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If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementing such a screening program in Taiwan,(More)
Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, intermittent, and thiamine responsive types. We report a 16-day-old boy who suffered from difficult feeding, persistent metabolic acidosis, and tricycling movement of the lower legs. Status epilepticus was(More)
Methylmalonic acidemia (MMA) is an autosomal recessive disease of branched chain amino acid metabolism. The disease can be classified as vitamin B12-responsive or nonresponsive type. For the nonresponsive type, there is no curative treatment, and its prognosis is usually poor. We report one case that had vitamin B12-nonresponsive type MMA diagnosed at 3(More)
BACKGROUND AND PURPOSE Mitochondrial DNA (mtDNA) mutation is an important cause of hearing impairment, but its prevalence in Taiwan is not clear. The purpose of this study is to identify mtDNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan. METHODS During a period of 36 months, 10 families with non-syndromic hearing(More)
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally(More)
BACKGROUND AND PURPOSE Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with defects in steroidogenesis. Its wide and non-specific clinical spectrum poses problems for early diagnosis. Without a screening program, affected newborns may be missed, even though they have a life-threatening illness. The purpose of this study was to survey(More)
Ocular changes in some types of the mucopolysaccharidoses (MPS) include corneal clouding, glaucoma, pigmentary retinop-athy, optic disc edema, and optic atrophy. 1,2 Pigmentary retinop-athy has been reported in MPS I (Hurler disease), MPS IS (Scheie syndrome), MPS I-H/S (Hurler/Scheie), MPS II (Hunter disease), MPS III (Sanfilippo syndrome), and MPS IV A(More)
BACKGROUND Teaching reflection and administering reflective writing assignments to students are widely practiced and discussed in medical education and health professional education. However, little is known about how medical students use language to construct their narratives. Exploring students' linguistic patterns in their reflective writings can(More)
BACKGROUND Scrub typhus, a potentially fatal rickettsial infection, is endemic in western Pacific Rims including Taiwan. Most reports have been concerned about mainly adult patients, whereas serologic surveys suggested that as many as one-half of cases of scrub typhus might be in children. METHODS We conducted a retrospective study of childhood scrub(More)
OBJECTIVE This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies. METHODS From 2004 to 2009, pregnant women who underwent amniocentesis in their second trimester at three hospitals in western Taiwan and(More)