Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012

Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Lin, Hsiang-Yu [verfasserIn] Chuang, Chih-Kuang Huang, Yu-Hsiu Tu, Ru-Yi Lin, Fang-Ju Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Chou, Yen-Yin Tsai, Wen-Hui Chang, Tung-Ming Lin, Shuan-Pei

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Schlagwörter:	Cause of death Hunter syndrome Mortality Mucopolysaccharidosis II Taiwan

Anmerkung:	© The Author(s). 2016

Übergeordnetes Werk:	Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 11(2016), 1 vom: 27. Juni
Übergeordnetes Werk:	volume:11 ; year:2016 ; number:1 ; day:27 ; month:06

Links:	Volltext

DOI / URN:	10.1186/s13023-016-0471-6

Katalog-ID:	SPR029496098

Internformat


LEADER	01000caa a22002652 4500
001	SPR029496098
003	DE-627
005	20230519154449.0
007	cr uuu---uuuuu
008	201007s2016 xx \|\|\|\|\|o 00\| \|\|eng c
024	7		\|a 10.1186/s13023-016-0471-6 \|2 doi
035			\|a (DE-627)SPR029496098
035			\|a (SPR)s13023-016-0471-6-e
040			\|a DE-627 \|b ger \|c DE-627 \|e rakwb
041			\|a eng
100	1		\|a Lin, Hsiang-Yu \|e verfasserin \|4 aut
245	1	0	\|a Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
264		1	\|c 2016
336			\|a Text \|b txt \|2 rdacontent
337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
500			\|a © The Author(s). 2016
520			\|a Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade.
650		4	\|a Cause of death \|7 (dpeaa)DE-He213
650		4	\|a Hunter syndrome \|7 (dpeaa)DE-He213
650		4	\|a Mortality \|7 (dpeaa)DE-He213
650		4	\|a Mucopolysaccharidosis II \|7 (dpeaa)DE-He213
650		4	\|a Taiwan \|7 (dpeaa)DE-He213
700	1		\|a Chuang, Chih-Kuang \|4 aut
700	1		\|a Huang, Yu-Hsiu \|4 aut
700	1		\|a Tu, Ru-Yi \|4 aut
700	1		\|a Lin, Fang-Ju \|4 aut
700	1		\|a Lin, Shio Jean \|4 aut
700	1		\|a Chiu, Pao Chin \|4 aut
700	1		\|a Niu, Dau-Ming \|4 aut
700	1		\|a Tsai, Fuu-Jen \|4 aut
700	1		\|a Hwu, Wuh-Liang \|4 aut
700	1		\|a Chien, Yin-Hsiu \|4 aut
700	1		\|a Lin, Ju-Li \|4 aut
700	1		\|a Chou, Yen-Yin \|4 aut
700	1		\|a Tsai, Wen-Hui \|4 aut
700	1		\|a Chang, Tung-Ming \|4 aut
700	1		\|a Lin, Shuan-Pei \|4 aut
773	0	8	\|i Enthalten in \|t Orphanet journal of rare diseases \|d London : BioMed Central, 2006 \|g 11(2016), 1 vom: 27. Juni \|w (DE-627)50900637X \|w (DE-600)2225857-7 \|x 1750-1172 \|7 nnns
773	1	8	\|g volume:11 \|g year:2016 \|g number:1 \|g day:27 \|g month:06
856	4	0	\|u https://dx.doi.org/10.1186/s13023-016-0471-6 \|z kostenfrei \|3 Volltext
912			\|a GBV_USEFLAG_A
912			\|a SYSFLAG_A
912			\|a GBV_SPRINGER
912			\|a SSG-OLC-PHA
912			\|a GBV_ILN_11
912			\|a GBV_ILN_20
912			\|a GBV_ILN_22
912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_95
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_206
912			\|a GBV_ILN_213
912			\|a GBV_ILN_230
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_602
912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4700
951			\|a AR
952			\|d 11 \|j 2016 \|e 1 \|b 27 \|c 06

Indexfelder

author_variant	h y l hyl c k c ckc y h h yhh r y t ryt f j l fjl s j l sj sjl p c c pc pcc d m n dmn f j t fjt w l h wlh y h c yhc j l l jll y y c yyc w h t wht t m c tmc s p l spl
matchkey_str	article:17501172:2016----::assfetadlnclhrceitco3ptetwtmcplschrd
hierarchy_sort_str	2016
publishDate	2016
allfields	10.1186/s13023-016-0471-6 doi (DE-627)SPR029496098 (SPR)s13023-016-0471-6-e DE-627 ger DE-627 rakwb eng Lin, Hsiang-Yu verfasserin aut Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. Cause of death (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Mortality (dpeaa)DE-He213 Mucopolysaccharidosis II (dpeaa)DE-He213 Taiwan (dpeaa)DE-He213 Chuang, Chih-Kuang aut Huang, Yu-Hsiu aut Tu, Ru-Yi aut Lin, Fang-Ju aut Lin, Shio Jean aut Chiu, Pao Chin aut Niu, Dau-Ming aut Tsai, Fuu-Jen aut Hwu, Wuh-Liang aut Chien, Yin-Hsiu aut Lin, Ju-Li aut Chou, Yen-Yin aut Tsai, Wen-Hui aut Chang, Tung-Ming aut Lin, Shuan-Pei aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 11(2016), 1 vom: 27. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:11 year:2016 number:1 day:27 month:06 https://dx.doi.org/10.1186/s13023-016-0471-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2016 1 27 06
spelling	10.1186/s13023-016-0471-6 doi (DE-627)SPR029496098 (SPR)s13023-016-0471-6-e DE-627 ger DE-627 rakwb eng Lin, Hsiang-Yu verfasserin aut Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. Cause of death (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Mortality (dpeaa)DE-He213 Mucopolysaccharidosis II (dpeaa)DE-He213 Taiwan (dpeaa)DE-He213 Chuang, Chih-Kuang aut Huang, Yu-Hsiu aut Tu, Ru-Yi aut Lin, Fang-Ju aut Lin, Shio Jean aut Chiu, Pao Chin aut Niu, Dau-Ming aut Tsai, Fuu-Jen aut Hwu, Wuh-Liang aut Chien, Yin-Hsiu aut Lin, Ju-Li aut Chou, Yen-Yin aut Tsai, Wen-Hui aut Chang, Tung-Ming aut Lin, Shuan-Pei aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 11(2016), 1 vom: 27. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:11 year:2016 number:1 day:27 month:06 https://dx.doi.org/10.1186/s13023-016-0471-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2016 1 27 06
allfields_unstemmed	10.1186/s13023-016-0471-6 doi (DE-627)SPR029496098 (SPR)s13023-016-0471-6-e DE-627 ger DE-627 rakwb eng Lin, Hsiang-Yu verfasserin aut Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. Cause of death (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Mortality (dpeaa)DE-He213 Mucopolysaccharidosis II (dpeaa)DE-He213 Taiwan (dpeaa)DE-He213 Chuang, Chih-Kuang aut Huang, Yu-Hsiu aut Tu, Ru-Yi aut Lin, Fang-Ju aut Lin, Shio Jean aut Chiu, Pao Chin aut Niu, Dau-Ming aut Tsai, Fuu-Jen aut Hwu, Wuh-Liang aut Chien, Yin-Hsiu aut Lin, Ju-Li aut Chou, Yen-Yin aut Tsai, Wen-Hui aut Chang, Tung-Ming aut Lin, Shuan-Pei aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 11(2016), 1 vom: 27. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:11 year:2016 number:1 day:27 month:06 https://dx.doi.org/10.1186/s13023-016-0471-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2016 1 27 06
allfieldsGer	10.1186/s13023-016-0471-6 doi (DE-627)SPR029496098 (SPR)s13023-016-0471-6-e DE-627 ger DE-627 rakwb eng Lin, Hsiang-Yu verfasserin aut Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. Cause of death (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Mortality (dpeaa)DE-He213 Mucopolysaccharidosis II (dpeaa)DE-He213 Taiwan (dpeaa)DE-He213 Chuang, Chih-Kuang aut Huang, Yu-Hsiu aut Tu, Ru-Yi aut Lin, Fang-Ju aut Lin, Shio Jean aut Chiu, Pao Chin aut Niu, Dau-Ming aut Tsai, Fuu-Jen aut Hwu, Wuh-Liang aut Chien, Yin-Hsiu aut Lin, Ju-Li aut Chou, Yen-Yin aut Tsai, Wen-Hui aut Chang, Tung-Ming aut Lin, Shuan-Pei aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 11(2016), 1 vom: 27. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:11 year:2016 number:1 day:27 month:06 https://dx.doi.org/10.1186/s13023-016-0471-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2016 1 27 06
allfieldsSound	10.1186/s13023-016-0471-6 doi (DE-627)SPR029496098 (SPR)s13023-016-0471-6-e DE-627 ger DE-627 rakwb eng Lin, Hsiang-Yu verfasserin aut Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. Cause of death (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Mortality (dpeaa)DE-He213 Mucopolysaccharidosis II (dpeaa)DE-He213 Taiwan (dpeaa)DE-He213 Chuang, Chih-Kuang aut Huang, Yu-Hsiu aut Tu, Ru-Yi aut Lin, Fang-Ju aut Lin, Shio Jean aut Chiu, Pao Chin aut Niu, Dau-Ming aut Tsai, Fuu-Jen aut Hwu, Wuh-Liang aut Chien, Yin-Hsiu aut Lin, Ju-Li aut Chou, Yen-Yin aut Tsai, Wen-Hui aut Chang, Tung-Ming aut Lin, Shuan-Pei aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 11(2016), 1 vom: 27. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:11 year:2016 number:1 day:27 month:06 https://dx.doi.org/10.1186/s13023-016-0471-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2016 1 27 06
language	English
source	Enthalten in Orphanet journal of rare diseases 11(2016), 1 vom: 27. Juni volume:11 year:2016 number:1 day:27 month:06
sourceStr	Enthalten in Orphanet journal of rare diseases 11(2016), 1 vom: 27. Juni volume:11 year:2016 number:1 day:27 month:06
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Cause of death Hunter syndrome Mortality Mucopolysaccharidosis II Taiwan
isfreeaccess_bool	true
container_title	Orphanet journal of rare diseases
authorswithroles_txt_mv	Lin, Hsiang-Yu @@aut@@ Chuang, Chih-Kuang @@aut@@ Huang, Yu-Hsiu @@aut@@ Tu, Ru-Yi @@aut@@ Lin, Fang-Ju @@aut@@ Lin, Shio Jean @@aut@@ Chiu, Pao Chin @@aut@@ Niu, Dau-Ming @@aut@@ Tsai, Fuu-Jen @@aut@@ Hwu, Wuh-Liang @@aut@@ Chien, Yin-Hsiu @@aut@@ Lin, Ju-Li @@aut@@ Chou, Yen-Yin @@aut@@ Tsai, Wen-Hui @@aut@@ Chang, Tung-Ming @@aut@@ Lin, Shuan-Pei @@aut@@
publishDateDaySort_date	2016-06-27T00:00:00Z
hierarchy_top_id	50900637X
id	SPR029496098
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR029496098</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519154449.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2016 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/s13023-016-0471-6</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR029496098</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s13023-016-0471-6-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Lin, Hsiang-Yu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s). 2016</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Cause of death</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hunter syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Mortality</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Mucopolysaccharidosis II</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Taiwan</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chuang, Chih-Kuang</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Yu-Hsiu</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tu, Ru-Yi</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Fang-Ju</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Shio Jean</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chiu, Pao Chin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Niu, Dau-Ming</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsai, Fuu-Jen</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hwu, Wuh-Liang</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chien, Yin-Hsiu</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Ju-Li</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chou, Yen-Yin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsai, Wen-Hui</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chang, Tung-Ming</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Shuan-Pei</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Orphanet journal of rare diseases</subfield><subfield code="d">London : BioMed Central, 2006</subfield><subfield code="g">11(2016), 1 vom: 27. Juni</subfield><subfield code="w">(DE-627)50900637X</subfield><subfield code="w">(DE-600)2225857-7</subfield><subfield code="x">1750-1172</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:11</subfield><subfield code="g">year:2016</subfield><subfield code="g">number:1</subfield><subfield code="g">day:27</subfield><subfield code="g">month:06</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://dx.doi.org/10.1186/s13023-016-0471-6</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_SPRINGER</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2003</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2005</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2011</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2055</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2111</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">11</subfield><subfield code="j">2016</subfield><subfield code="e">1</subfield><subfield code="b">27</subfield><subfield code="c">06</subfield></datafield></record></collection>
author	Lin, Hsiang-Yu
spellingShingle	Lin, Hsiang-Yu misc Cause of death misc Hunter syndrome misc Mortality misc Mucopolysaccharidosis II misc Taiwan Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
authorStr	Lin, Hsiang-Yu
ppnlink_with_tag_str_mv	@@773@@(DE-627)50900637X
format	electronic Article
delete_txt_mv	keep
author_role	aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut
collection	springer
remote_str	true
illustrated	Not Illustrated
issn	1750-1172
topic_title	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 Cause of death (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Mortality (dpeaa)DE-He213 Mucopolysaccharidosis II (dpeaa)DE-He213 Taiwan (dpeaa)DE-He213
topic	misc Cause of death misc Hunter syndrome misc Mortality misc Mucopolysaccharidosis II misc Taiwan
topic_unstemmed	misc Cause of death misc Hunter syndrome misc Mortality misc Mucopolysaccharidosis II misc Taiwan
topic_browse	misc Cause of death misc Hunter syndrome misc Mortality misc Mucopolysaccharidosis II misc Taiwan
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
format_main_str_mv	Text Zeitschrift/Artikel
carriertype_str_mv	cr
hierarchy_parent_title	Orphanet journal of rare diseases
hierarchy_parent_id	50900637X
hierarchy_top_title	Orphanet journal of rare diseases
isfreeaccess_txt	true
familylinks_str_mv	(DE-627)50900637X (DE-600)2225857-7
title	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
ctrlnum	(DE-627)SPR029496098 (SPR)s13023-016-0471-6-e
title_full	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
author_sort	Lin, Hsiang-Yu
journal	Orphanet journal of rare diseases
journalStr	Orphanet journal of rare diseases
lang_code	eng
isOA_bool	true
recordtype	marc
publishDateSort	2016
contenttype_str_mv	txt
author_browse	Lin, Hsiang-Yu Chuang, Chih-Kuang Huang, Yu-Hsiu Tu, Ru-Yi Lin, Fang-Ju Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Chou, Yen-Yin Tsai, Wen-Hui Chang, Tung-Ming Lin, Shuan-Pei
container_volume	11
format_se	Elektronische Aufsätze
author-letter	Lin, Hsiang-Yu
doi_str_mv	10.1186/s13023-016-0471-6
title_sort	causes of death and clinical characteristics of 34 patients with mucopolysaccharidosis ii in taiwan from 1995–2012
title_auth	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
abstract	Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. © The Author(s). 2016
abstractGer	Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. © The Author(s). 2016
abstract_unstemmed	Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade. © The Author(s). 2016
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700
container_issue	1
title_short	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
url	https://dx.doi.org/10.1186/s13023-016-0471-6
remote_bool	true
author2	Chuang, Chih-Kuang Huang, Yu-Hsiu Tu, Ru-Yi Lin, Fang-Ju Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Chou, Yen-Yin Tsai, Wen-Hui Chang, Tung-Ming Lin, Shuan-Pei
author2Str	Chuang, Chih-Kuang Huang, Yu-Hsiu Tu, Ru-Yi Lin, Fang-Ju Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Chou, Yen-Yin Tsai, Wen-Hui Chang, Tung-Ming Lin, Shuan-Pei
ppnlink	50900637X
mediatype_str_mv	c
isOA_txt	true
hochschulschrift_bool	false
doi_str	10.1186/s13023-016-0471-6
up_date	2024-07-04T01:12:59.630Z
_version_	1803608999471349760
fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR029496098</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519154449.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2016 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/s13023-016-0471-6</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR029496098</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s13023-016-0471-6-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Lin, Hsiang-Yu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s). 2016</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Conclusions Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Cause of death</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hunter syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Mortality</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Mucopolysaccharidosis II</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Taiwan</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chuang, Chih-Kuang</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Yu-Hsiu</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tu, Ru-Yi</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Fang-Ju</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Shio Jean</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chiu, Pao Chin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Niu, Dau-Ming</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsai, Fuu-Jen</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hwu, Wuh-Liang</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chien, Yin-Hsiu</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Ju-Li</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chou, Yen-Yin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsai, Wen-Hui</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chang, Tung-Ming</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lin, Shuan-Pei</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Orphanet journal of rare diseases</subfield><subfield code="d">London : BioMed Central, 2006</subfield><subfield code="g">11(2016), 1 vom: 27. Juni</subfield><subfield code="w">(DE-627)50900637X</subfield><subfield code="w">(DE-600)2225857-7</subfield><subfield code="x">1750-1172</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:11</subfield><subfield code="g">year:2016</subfield><subfield code="g">number:1</subfield><subfield code="g">day:27</subfield><subfield code="g">month:06</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://dx.doi.org/10.1186/s13023-016-0471-6</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_SPRINGER</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2003</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2005</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2011</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2055</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2111</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">11</subfield><subfield code="j">2016</subfield><subfield code="e">1</subfield><subfield code="b">27</subfield><subfield code="c">06</subfield></datafield></record></collection>
score	7.3993244

Nicht das Richtige dabei?

Schreiben Sie uns!

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012

Nicht das Richtige dabei?

Zugang & Verfügbarkeit

Vorhandene Bände

Nicht das Richtige dabei?