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Biomedical subjects

S P Lin

Publications and source records attributed to S P Lin.

105 records · Page 6Linked to original sources
PubMedDate not supplied

Molecular diagnosis of Apert syndrome in Chinese patients.

Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made.

Acrocephalosyndactylia↗
PubMedDate not supplied

An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.

Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity. R248C mutation in the extracellular domain of fibrobast growth factor receptor 3 (FGFR3) was common in TD type I. Two TD type I patients were examined for R248C mutation by use of restriction digestion and direct sequencing. The results showed that both patients carried R248C mutation. Because of the homogeneity of R248C mutation among different ethnic populations, all TD patients should be analysed using this PCR-based method presented in this work.

Humans↗
PubMedDate not supplied

A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan.

Amino acid and acylcarnitine profiling of dry blood specimens using electrospray tandem mass spectrometry (ESI/MS/MS) has been recognized as an useful tool for screening inherited metabolic defects of newborns. In this pilot study, we introduced this technology to screen 2100 newborns to establish the normal amino acid and acylcarnitine level. Based on the upper cutoff level (average + 4*SD), twenty-nine samples studied were considered as abnormal. After follow-up samples and urine GC/MS analysis, only two were confirmed as true inborn errors. One was identified as hyperphenylalaninemia, and the other as isovaleric acidemia. The positive rate of true inborn metabolic error was 0.09% (2/2100), and the false positive rate 1.28% (29/2100) in this study. ESI/MS/MS is proven to be an adequate tool for inborn metabolic error screening.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.

Gaucher disease (GD), one of the most prevalent lysosomal storage diseases, is caused by deficiency of lysosomal acid beta-glucosidase (GBA). It is divided into three types according to the presence and progression of neurologic symptoms. Of those, type II is relatively rare and most severe; patients usually die before the age of two years. Using polymerase chain reaction (PCR) and direct sequencing of GBA gene in five Taiwanese type II GD patients, we identified two novel mutations: G355D and three-nucleotide insertion in exon 7 of GBA. The latter resulted in an in-frame insertion of a methionine residue between Leu241 and Ser242. L444P, the second most common GD allele among non-Jewish Caucasian population, was found in all five type II GD patients (50%). Overall, 9 out of 10 GD alleles were identified in this study. Direct sequencing of all PCR products led to high detection rate of GD alleles and identification of the RecNci 1 alleles. In the future, high throughput sequencing will make it possible identifying more rare mutations in type II GD patients.

Base Sequence↗
PubMedDate not supplied

Congenital varicella syndrome as an unusual cause of congenital malformation: report of one case.

Intrauterine infections with varicella-zoster virus following maternal varicella in early pregnancy and resulting in congenital malformations are rare. Herein we report a child with congenital varicella syndrome characterized by low birth weight, cicatricial scarring, hypoplasia of both lower extremities with joint contracture, congenital hip dislocation, corneal opacity, atresia of the sigmoid colon and a rarely associated cloaca anomaly. The varicella IgG remained positive after she was seven months old. Her mother developed chickenpox at the 14th week of gestation. The purpose of this article is to raise pediatricians' index of suspicion for congenital varicella syndrome when an infant is born with multiple congenital malformations with an apparent history of maternal varicella infection.

Abnormalities, Multiple↗
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Clinical experience in anesthetic management for children with mucopolysaccharidoses: Report of ten cases.

The mucopolysaccharidoses (MPS) are hereditary disorders. Children with these disorders have multisystem disease and present significant challenges for the anesthesiologist. The establishment and maintenance of an adequate airway represents the most commonly encountered anesthesia-related problem in these patients. We report ten children with MPS who required surgical intervention. One patient died and the others had a good outcome. In this report, we share our experience and discuss the anesthetic risks and management of MPS patients.

Anesthesia, General↗
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Liveborn trisomy 22: report of one case.

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.

Adult↗
PubMedDate not supplied

[A survey on weight and height of children (1 month-7 years) and plotting of growth curves (1 month-18 years) in Taiwan, 1987-1988].

From July 1987 to December 1988, 19,625 children in Taiwan were measured for their body weights and heights. They were 9,564 boys and 10,061 girls and were seen either in a well baby clinic of a large community hospital or in the local kindergartens. We divided these children into 64 groups according to their sex and ages. The mean values and standard deviation of body weight and height were tried to correlate with those from children of school age reported for 1987 by the Ministry of Education. Furthermore, body weight and height growth curves were drawn for these children, aged from 1 month to 18 years.

Adolescent↗
PubMedDate not supplied

The VATER association: analysis of forty six cases without karyotyping.

Forty-six patients with two or more features of the VATER association admitted to the Mackay Memorial Hospital from May, 1983 to Mar, 1992 were retrospectively enrolled in this study. We compared the incidence of major features with that reported in the literature. Imperforate anus, congenital heart disease, and renal anomalies were the three most common major features in our study. Thirteen patients died. Heart failure was the major cause of mortality. We noted many patients associated minor features, and among them there was a relatively high ratio of cleft lip, cleft palate, and hypospadius. The overall outcome and development were good among the survivals. We suggest that children who have any congenital anomaly included in the VATER association should get a careful examination and evaluation of their heart, genitourinary tract, limbs and vertebrae. Early correction if possible is indicated in such patients.

Abnormalities, Multiple↗
PubMedDate not supplied

Computerized Dysmorphology Database Mackay (CDDM): preliminary report.

A computerized dysmorphology database is useful for the pediatrician and geneticist in the task of diagnosing multiple malformation syndromes in children. We set up a new dysmorphology database "Computerized Dysmorphology Database Mackay (CDDM)" managed by the Clipper program. At present 278 disease entities with their clinical features and references are stored in the database. In this article, we report a practice analysis of ten dysmorphic patients by CDDM. A specific syndrome was accurately and rapidly diagnosed with the aid of CDDM in all ten cases. They serve as examples on how CDDM can be efficiently applied to obtain a short list of syndromes for differential diagnosis.

Abnormalities, Multiple↗
PubMedDate not supplied

The 18 p- syndrome: report of one case.

Deletion of the short arm of chromosome 18 is more difficult to diagnose than most of other chromosomal abnormalities as the phenotypic picture is not specific enough to establish the diagnosis. Mental retardation, short stature, and hypertelorism were some of the prominent features of the syndrome. Some systemic diseases, such as congenital heart disease, hypothyroidism, IgA deficiency, were reported to be associated with this syndrome. We present a 14-month-old male baby with a round face, protruding tongue, hypertelorism, epicanthal folds, short stature, and psychomotor retardation to be a case of chromosome 18 p-. This was a de novo deletion and was not detected till the patient's second admission to our hospital. However, there was no other systemic disease could be found. The experience learned from this patient suggests that individuals with multiple congenital anomalies and psychomotor impairment, regardless of the severity, may warrant cytogenetic analysis.

Abnormalities, Multiple↗
PubMedDate not supplied

Juvenile nephronophthisis-medullary cystic disease complex: a family study.

Two sisters, eight and six years old, respectively, were admitted to Mackay Memorial Hospital in 1993 with the chief complaints of growth retardation, polyuria and nocturnal enuresis. Poor urinary concentration, sodium wasting, anemia and renal insufficiency were noted during hospitalization. Ultrasonography revealed increased renal echogenicity, loss of corticomedullary differentiation and multiple tiny corticomedullary cysts in both kidneys. Renal histopathology showed mild increase in glomerular mesangial cellularity and matrix, mild focal tubular atrophy with thickening of the tubular basement membrane. Other family members were screened by ultrasonography and found another six patients in two generations of the paternal side. Renal cysts were found in five cases. Three of them had progressively deteriorating renal failure. Five had stable renal function after three years of supportive treatment. Thus, it was concluded that the age of onset does not differentiate medullary cystic disease (MCD) from juvenile nephonophthisis (JN), and that JN and MCD could be considered a clinical complex. The absence of corticomedullary cysts on ultrasonography does not preclude the diagnosis. It is also suggested that any children with clinical symptoms of polyuria, polydipsia, anemia and growth retardation from their early years should be carefully examined, and the family history should be investigated to permit early detection of the disease.

Adult↗
PubMedDate not supplied

Robinow syndrome: report of one case.

We report a 2-month-old infant with Robinow syndrome. Clinical manifestations included short stature, characteristic facies, mesomelic brachymelia, brachydactyly, camptodactyly, duplication of thumbs, hypoplasia of clitoris, and deformed pronated foot. A cytogenetic study revealed a normal female karyotype. Chest radiography showed rib anomalies, a vertebral anomaly in T8, narrowing of interpedicular distances and flaring with slight thickening of the bone cortex in the bilateral humeral bone. Hand and foot radiography showed generalized shortening include unequal size of metacarpal, metatarsal and phalangeal bones. In our case, sporadic or autosomal recessive inheritance was most likely. The literature is reviewed.

Abnormalities, Multiple↗