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Biomedical subjects

S P Lin

Publications and source records attributed to S P Lin.

At least 73 records · Page 4Linked to original sources
PubMed1996

CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years.

We report on six cases with CVS-exposed limb-"reduction" defects born in our hospital during a period of 9 years (1986-1994). Four cases were associated with other birth defects. One had an oromandibular-limb hypogenesis syndrome with a cleft lip and jejunal atresia, a second had an oromandibular-limb hypogenesis (Hanhart) syndrome, a third had severe flexion deformity at the hips and hyperextension at the knees with meconium peritonitis and intestinal obstruction, and a fourth had Poland anomaly. Detailed clinical descriptions, prenatal diagnosis, photographs, and radiographs are presented. Our presentation adds to the information on severe limb abnormalities after CVS and suggests CVS-exposed limb defects may be associated with other birth defects resulting from vascular insufficiency or intrauterine compression. We suggest that detailed post-CVS sonographic followups are necessary for each CVS-exposed case to identify not only the possible fetal limb reduction, but also vascular disruption-type malformations and compressive deformities.

Abnormalities, Multiple↗
PubMed1996

Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery.

The prenatal and postnatal findings of a fetus with partial deletion of 3p25 -> pter and duplication of 2p25.3 -> pter are described. The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and cryptorchidism. All of these anomalies were consistent with those described in 3p- and partial trisomy 2p syndromes, and also frequently seen in patients with other chromosomal disorders. However, the prenatal sonograms revealed unusual shortening of the long bones, a single umbilical artery, and normal development of the skull. Our case suggests that skeletal growth retardation of the long bones may occur earlier than that of the skull in fetuses associated with chromosomal aberrations such as del(3p)/dup(2p). Shortening of the long bones and a single umbilical artery together with other abnormalities detected by prenatal ultrasound thus warrant a fetal cytogenetic study.

Abnormalities, Multiple↗
PubMed1996

Prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune syndrome).

Asphyxiating thoracic dysplasia (ATD), or Jeune syndrome, is an uncommon autosomal recessive skeletal disorder characterized by a small thorax, varying degrees of rhizomelic brachymelia, polydactyly, pelvic abnormalities, and renal anomalies. We describe prenatal sonographic examinations in the third trimester of a fetus with abnormal small thorax, short limbs, polyhydramnios, and absence of fetal respiratory movements. At 36 weeks gestation, the fetal biparietal diameter was 93 mm, compatible with 37 weeks; the long-bone lengths measured < 5th percentile; the thoracic circumference (TC) measured 230 mm (< 5th percentile); the abdominal circumference (AC) measured 286 mm (25th percentile), and the TC/AC ratio was 0.80 (lower limit of normal). Our case shows that, although a discrepancy between gestational age and TC is prominent, TC/AC ratio may reach lower limit of normal in cases of fetal ATD, when fetal growth is compromised.

Adult↗
PubMed1996

Schizoid personality disorder after prenatal exposure to famine.

OBJECTIVE: The authors tested whether early prenatal exposure to famine was associated with schizophrenia spectrum personality disorder in addition to being associated with schizophrenia per se as shown in a previous study. METHOD: The risk of schizoid personality disorder, as defined by ICD-6 to ICD-9, in men at age 18 years was compared in birth cohorts that were conceived at the height of the Dutch Hunger Winter famine and in unexposed birth cohorts of 1944-1946 in the famine region of Holland. RESULTS: The exposed cohort had a significantly greater risk (relative risk = 2.01) of schizoid personality disorder. CONCLUSIONS: Prenatal nutritional deficiency was associated with a greater risk of schizoid personality disorder in men at age 18 years.

Adolescent↗
PubMed1995

Limb defects after chorionic villus sampling.

OBJECTIVE: To clarify the association between limb defects and chorionic villus sampling (CVS). METHODS: Questionnaires were sent to 165 major obstetric units in Taiwan to survey the incidence of limb defects with and without CVS exposure during 1991. Limb defects with CVS exposure from September 1990 to June 1992 were also surveyed. The spectrum of limb defects in CVS-exposed and general populations were compared by the Poisson test. RESULTS: The incidence of limb defects in the surveyed general population in 1991 was 0.032% and that with CVS exposure was 0.294%, a statistically significant difference (P < .001). The incidence of severe limb defects in the general population was 0.0026% and that with CVS exposure was 0.22%, also statistically significant (P < .001). Twenty-nine cases of limb defects after CVS were reported from September 1990 until June 1992: 19 cases with transverse limb reduction, two with mid-palm reduction, seven with adactyly or hypodactyly, and one with syndactyly. Four cases also had oromandibular-limb hypogenesis syndrome. CONCLUSIONS: The incidence of limb defects, especially the severe types, was increased after CVS. The spectrum of limb defects with CVS exposure was more severe than the limb defects seen in the general population and showed a specific pattern ranging from hypodactyly, adactyly, and transverse limb reduction, to oromandibular-limb hypogenesis. A correlation between the severity of limb defects and the timing of CVS was suggested.

Abnormalities, Multiple↗
PubMed1995

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.

A point mutation (1898 + 5G-->T) located five base pairs downstream from the donor splice site in intron 12 of the CFTR gene has been identified in a consanguineous CF patient of Chinese origin. To determine if this nucleotide substitution could affect mRNA splicing, PCR analysis was performed with RNA isolated from the lymphoblastoid cell line of the mother of the deceased patient. While exon 12-minus transcript was detected in this sample, it was also found in individuals without 1898 + 5G-->T, albeit in a smaller proportion. Using a sequence polymorphism associated with each of the two alleles in the mother, however, we showed that mutant transcript was almost exclusively produced by the 1898 + 5G-->T allele. Skipping of exon 12 would result in the deletion of 29 amino acids from the first nucleotide binding domain of CFTR, rendering the protein non-functional. The possibility of a low level (< or = 2.5%) of normal transcript from the mutant allele cannot be excluded and it may explain the pancreatic sufficient phenotype of the patient. The 1898 + 5G-->T mutation was found in two other CF patients of Chinese origin, but it was not detected in 192 CF chromosomes of Caucasian origin and 30 other chromosomes from Chinese individuals without a family history of CF.

Base Sequence↗
PubMed1995

Increased risk of affective disorders in males after second trimester prenatal exposure to the Dutch hunger winter of 1944-45.

BACKGROUND: Prenatal and perinatal factors have been linked to affective disorders. We therefore undertook an exploratory study to determine whether prenatal exposure to severe famine was associated with an increased risk of affective disorders. METHOD: Monthly birth cohorts that were exposed and unexposed to the Dutch Hunger Winter of 1944-45 were identified. The cumulative incidences of affective psychoses and neurotic depression (ICD-9 criteria) were compared between exposed and unexposed cohorts during each trimester of gestation. RESULTS: The relative risk (RR) of affective psychosis (broad and restricted definitions) among persons exposed to famine during the second trimester was significantly increased (broad: RR (95% confidence interval) = 1.62 (1.19, 2.20); restricted: 1.59 (1.14, 2.21)). Separate analysis by gender showed a significant association among males (broad: 2.26 (1.43, 3.57); restricted: 2.40 (1.49, 3.89), but not females (broad: 1.28 (0.84, 1.94); restricted: 1.17 (0.73, 1.76)). The risk of neurotic depression was not increased after prenatal famine exposure. CONCLUSIONS: These results suggest a possible relationship between prenatal famine during the second trimester and affective psychosis, lending plausibility to reports that have associated affective psychoses with prenatal exposures. Further studies of this relationship are warranted.

Adult↗
PubMed1995

Enamel pitting in childhood tuberous sclerosis.

Dental enamel pitting was studied as a diagnostic sign of pediatric tuberous sclerosis (TSC). Thirteen patients aged 2.5 to 18 years with varying degrees of TSC were evaluated. They were checked for the presence of enamel pitting by the use of two to three drops of dental plaque disclosing stain which was applied to the labial surfaces of dry teeth. This technique provides a remarkable color contrast allowing for the detection of many small and subtle enamel pits. A control group of 39 unrelated patients without TSC were also examined. A total of 77% of TSC patients (10/13) revealed enamel pitting, compared with 13% of controls. The distribution of enamel pitting among TSC patients and normal controls of each sex was statistically significant. The total number of enamel pits in each patient varied from 1 to 26 and increased with age; 90% of the teeth with enamel pitting displayed one to two pits per tooth. The youngest patient with enamel pitting was 5 years old. The simplicity of this test and the high probability of pitting in TSC make the examination useful in the assessment of patients in whom the diagnosis of this serious genetic disease is being considered.

Adolescent↗
PubMed1994

No relation between risk of schizophrenia and prenatal exposure to influenza in Holland.

The authors compared the risk of schizophrenia in Dutch birth cohorts that were or were not exposed during the second trimester of gestation to the 1957 A2 influenza epidemic. Exposed birth cohorts did not have a higher risk of schizophrenia. These findings suggest that, in some populations, there is no relation between prenatal exposure to influenza and risk of schizophrenia.

Adult↗
PubMed1993

Maple syrup urine disease: report of two cases.

Two cases of maple syrup urine disease (MSUD) are reported. Case 1 was a 10-day-old male infant who had cyanotic episodes and recurrent generalized convulsions; the odor of burned sugar from the body and urine was also noted. Plasma and urine amino acid analysis disclosed a marked increase in the concentration of branched chain amino acids (BCAA). As a result of a BCAA-free diet and mega-doses of thiamine, the condition stabilized. However, the patient was lost to follow-up and expired at two months of age due to inadequate management. Case 2 was a 20-day-old female infant with poor feeding, vomiting for one week, generalized convulsions and a peculiar burned sugar smell from the body and urine. Based on our experience with the first case, MSUD was suspected, and the infant was treated accordingly. However, subsequent follow-up revealed delayed developmental milestones. We present the first two reported cases of MSUD in Taiwan and review the relevant literature.

Amino Acids, Branched-Chain↗
PubMed1992

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.

We describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases with larger deletions including 2q37.2-->qter have been reported. Clinical manifestations our patient has in common with them include frontal bossing, long eyelashes, micrognathia, infantile hypotonia and developmental delay. His twin brother is physically and developmentally normal and chromosomes of the parents were normal. The mildness of the phenotype in this patient supports less stringent criteria for cytogenetic study of developmentally impaired individuals.

Adult↗
PubMed1992

Schizophrenia after prenatal exposure to the Dutch Hunger Winter of 1944-1945.

We tested the hypothesis that first-trimester exposure to acute food deprivation is a risk factor for schizophrenia. A sharp and time-limited decline in the food intake of the Dutch population following a Nazi blockade in 1944 to 1945 created a unique if tragic natural experiment to test this hypothesis in three regions of Holland (west, north, and south). In the west, or famine region, birth cohorts exposed to severe food deprivation (an average daily ration under 4200 kJ) during the first trimester showed a substantial increase in hospitalized schizophrenia for women but not for men. Relative risks for women were 2.17 for "broad" and 2.56 for "restricted" schizophrenia. Moderate food deprivation during the first trimester (average daily ration under 6300 kJ) was not associated with increased risk of schizophrenia in the famine region. In the north and south regions, numbers were smaller and there was no exposure to severe famine. Birth cohorts exposed to moderate food deprivation during the first trimester showed a trend toward increased risk of schizophrenia for women. These findings give plausibility to the proposition that early prenatal nutrition can have a gender-specific effect on the risk of schizophrenia.

Female↗
PubMed1992

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications.

N-Acetyl-L-glutamate synthetase (NAG synthetase) is a mitochondrial matrix enzyme which catalyzes the synthesis of N-acetyl-Lglutamate (NAG), a physiologic activator of the urea cycle enzyme carbamylphosphate synthetase I. Deficiency of NAG synthetase in humans has been reported only three times previously. Two cases presented with uncontrolable neonatal hyperammonemia leading to death, while a third child presented with hyperammonemia and a neurodegenerative picture at 15 months of age after previously being healthy. We report here a new case of NAG synthetase deficiency who presented at 4 years, 10 months of age with an episode of hyperammonemia. Diagnosis was made at age 5 years, 6 months when a liver biopsy showed 9.7% of normal activity. Urine orotic acid was low, and total NAG content in liver was normal. Liver pathology revealed micro- and macrovesicular fat and mitochondria of irregular size and shape with intracristae crystallizations. NAG content in liver in patients with NAG synthetase deficiency has not previously been reported. Its normal value in the face of NAG synthetase deficiency suggests an abnormal localization of NAG to the cytoplasm and the likelihood of aberrant cytoplasmic synthesis of this compound. Additional physiologic implications of this speculative abnormal compartmentalization are discussed.

Acetyltransferases↗
PubMed1992

Assignment of two human alpha-1,3-galactosyltransferase gene sequences (GGTA1 and GGTA1P) to chromosomes 9q33-q34 and 12q14-q15.

alpha-1,3-Galactosyltransferase is a terminal glycosyltransferase that is widely expressed in a variety of mammalian species, with the notable exception of man, apes, and Old World monkeys. Although transcripts for this enzyme are not detectable in humans, homologous sequences have been identified in human genomic DNA. These sequences correspond to a processed pseudogene that maps to chromosome 12 and the inactivated remnant of the once functional source gene that maps to chromosome 9. We have now established that the former sequence (GGTA1P) is localized to 12q14-q15 and the latter sequence (GGTA1) is localized to 9q33-q34 [corrected].

Chromosome Banding↗
PubMed1991

Risk factors for homelessness among patients admitted to a state mental hospital.

OBJECTIVE: This study measured the overall prevalence of homelessness and tested a priori hypothesized risk factors for homelessness among patients admitted to a state hospital. The risk factors included male gender, age under 40 years, black race, urban residence, schizophrenia-related diagnosis, alcohol abuse, and drug abuse. METHOD: For 377 patients admitted to a New York state mental hospital, the 3-month, 3-year, and lifetime prevalences of homelessness were assessed. The associations between these prevalences and the hypothesized risk factors were measured by relative risks in univariate analyses and by odds ratios derived from a logistic regression in multivariate analyses. RESULTS: The 3-month prevalence of homelessness was 19%, the 3-year prevalence was 25%, and the lifetime prevalence was 28%. In univariate analyses, significant associations included drug abuse with 3-month prevalence, 3-year prevalence, and lifetime prevalence; urban residence with 3-year prevalence and lifetime prevalence; and age under 40 years with 3-month prevalence. In the logistic regression analyses, the only significant associations were urban residence with 3-year prevalence and lifetime prevalence. Male gender, black race, alcohol abuse, and schizophrenia-related diagnosis had little or no relation to homelessness. CONCLUSIONS: The overall prevalence of homelessness in these patients was remarkably high. Several strong risk factors for homelessness in the general population had only a moderate effect or no effect on homelessness in this population. Risk factors for homelessness in psychiatric patients may be somewhat different from those in the general population.

Adult↗