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Biomedical subjects

E Y Shen

Publications and source records attributed to E Y Shen.

At least 19 recordsLinked to original sources
PubMed2001

Galloway-Mowat syndrome: a glomerular basement membrane disorder?

We report a female infant with Galloway-Mowat syndrome. In addition to the characteristic dysmorphic appearance, neurological anomalies and early-onset nephrotic syndrome, she had arachnodactyly, an observation thus far reported uniquely in Taiwan. Also, her elder sister had the same condition. Renal pathology on light microscopy showed cystic dilatation of the renal tubules. Electron microscopy showed an irregular glomerular basement membrane and effacement of foot processes. This observation suggests that malformation of the glomerular basement membrane may cause the glomerulopathy in Galloway-Mowat syndrome.

Basement Membrane↗
PubMed2001

Ataxia telangiectasia: report of two cases.

Ataxia telangiectasia (A-T) is a rare autosomal recessive multisystem disease. The diagnosis of A-T is based on the typical clinical picture: ataxia and telangiectasia. However, an increase in (alpha-fetoprotein (AFP) level and the identification of the A-T mutated gene (ATM) assist in an early diagnosis. Here we report two cases of A-T diagnosed in our hospital (case 1: a 7-year-old boy; case 2: an 8-year-old girl). Both of these patients had typical clinical pictures of ataxia and telangiectasia, AFP was also increased (case 1:471.2 ng/dL; case 2: 196 ng/dL). T-cell dysfunction was noted in both patients. Case 1 had IgG2 deficiency and case 2 had IgA, IgG2 and IgG3 deficiency. Case 2 developed malignant lymphoma at 9 years of age and died of pneumonia with respiratory failure at 10 years of age. Because of rhe rarity of A-T in Taiwan, we report two cases to help pediatricians make an early diagnosis of A-T if they have a patient with progressive ataxia and oculocutaneous telangiectasia.

Ataxia Telangiectasia↗
PubMed2000

Effects of ascorbate in microdialysis perfusion medium on the extracellular basal concentration of glutamate in rat's striatum.

There are many evidences suggest that ascorbate in the extracellular space can affect glutamate concentration in the rat's brain. In this report, we studied how ascorbate in microdialysis perfusion medium affected glutamate level at the striatum in freely-moving rats. Three perfusion mediums were used: 0, 250, and 400 microM of ascorbate in perfusion medium. The extracellular basal concentrations of glutamate were determined to be 1.29+/-0.52 microM for the no ascorbate group, 0.86+/-0.35 microM for the low ascorbate group and 4.76+/-1.48 microM for the high ascorbate group. By using 400 microM of ascorbate in a perfusion medium, we found that the extracellular basal concentration of glutamate significantly increased and its in vivo recovery significantly decreased. This indicated that ascorbate concentration in a perfusion medium was important and must be carefully considered while using microdialysis technique to monitor glutamate concentration in vivo.

Animals↗
PubMed1999

Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis.

UNLABELLED: Gastro-intestinal bleeding is an uncommon presentation in children with neurofibromatosis. Gastro-intestinal involvement caused by jejunal leiomyoma has only been described in adults. To the best of our knowledge, this is the first paediatric case of jejunal leiomyoma associated with neurofibromatosis. We present a 10-year-old girl with a 9-month history of anaemia and low gastro-intestinal bleeding. Abdominal sonography and small bowel series showed a submucosal mass in the proximal jejunum. On surgery, a submucosal tumour was excised and histological examination suggested a diagnosis of "smooth muscle tumour of undetermined malignant potential". There were no recurrence of symptoms for 4 years after the operation. CONCLUSION: Jejunal leiomyoma should be considered in a child with neurofibromatosis presenting with gastro-intestinal bleeding.

Child↗
PubMed1999

Association of allergy with Tourette's syndrome.

In our clinical practice, we often encounter signs and symptoms of allergy, such as rhinitis and asthma, in patients with Tourette's syndrome (TS). Some of the allergic manifestations are similar to the oral tics or motor tics found in TS patients. To clarify the association between TS and allergy, we evaluated 72 consecutive patients with TS from 1 September 1996 through 31 August 1997. The diagnosis of TS was based on the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria. Sixty-five boys and 7 girls, 4 to 17 years old (9.4 +/- 3.1 yr) were evaluated using the Multiple Allergens Simultaneous Tests (MAST) for the detection of total and specific immunoglobulin. Forty-five patients had positive results, of whom 41 (56.9%) had clinical evidence of allergy. The prevalence of allergy in the local population as reported by The International Study of Asthma and Allergy in Childhood Taiwan Group (1994) was 44.3% (33.5% with allergic rhinitis and 10.8% with asthma). These subjects served as controls. Comparing the number of patients with clinical evidence of allergy in the MAST positive group (56.9%) of TS patients with the control group (44.3%), the difference was significant++ (p < 0.05). The prevalence of allergy in TS patients in our study was significantly higher than in the general population. TS had an association with allergy.

Adolescent↗
PubMed1998

Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis.

UNLABELLED: Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of combined SMCI and CNPAS, obtained from the literature. Of the patients with SMCI, 69% had short stature, 48% growth hormone deficiency or hypopituitarism, 23% pituitary absence or hypoplasia, and 17% had del (18p-) or r(18). Of the patients with CNPAS, 63% had SMCI, 75% were short, 43% had hypopituitarism or growth hormone deficiency, 36% had pituitary or CNS anomaly, and 33% had del (18p), r(18), or del (13q). CONCLUSIONS: Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.

Abnormalities, Multiple↗
PubMed1998

Cerebral perfusion in children with Alice in Wonderland syndrome.

Alice in Wonderland syndrome (AIWS) is characterized by visual hallucinations and bizarre perceptual distortions. Technetium-99m hexamethylpropyleneamine tomography (SPECT) brain scans were performed in four patients during the acute stage of AIWS. Two patients were demonstrated to have Epstein-Barr virus infections. One had abnormal (EEG) findings. The visual-evoked potential, cranial CT, and MRI findings were negative. The decreased cerebral perfusion areas in all patients were near the visual tract and visual cortex. All involved some regions of the temporal lobe. In most patients with AIWS, the EEG, CT, and MRI are unable to determine the precise pathologic areas. However, a SPECT brain scan may demonstrate abnormal perfusion areas and explain the clinical presentations.

Cerebrovascular Circulation↗
PubMed1996

Neurogenic diabetes insipidus in children with hypoxic encephalopathy: six new cases and a review of the literature.

UNLABELLED: Hypoxic encephalopathy is rarely mentioned as a cause of neurogenic diabetes insipidus (DI) in children. We here report six cases of DI which occurred after severe hypoxic/ischaemic brain damage and include a review of the literature on 28 paediatric cases of neurogenic DI due solely to severe hypoxia/ischaemia. Airway obstruction, haemorrhagic shock and sudden infant death syndrome are the three major causes of hypoxia/ischaemia. The ages (25/28) ranged from 0.03 to 18 years (mean 7.27 years, median 5 years). The intervals between the hypoxic insult and the onset of DI (23/28) ranged from 0.08 days (2 h) to 13 days (mean 4.07 days, median 3.5 days). Linear regression analysis revealed no significant correlation between the age and the interval. Nineteen cases (82.6%) developed DI within 6 days after the hypoxic/ischaemic insult. Only two neonates survived with developmental delay. The remaining 26 cases died. CONCLUSION: Neurogenic DI can be caused by hypoxia/ischaemia and is an ominous sign of severe brain damage in children with hypoxic encephalopathy. It is important to recognize this potential sequel by regularly monitoring intake and output, plasma sodium level, and urine specific gravity.

Adolescent↗
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

Reversal of diastolic cerebral blood flow in infants without brain death.

The reversal of diastolic cerebral blood flow has been regarded as a characteristic waveform of brain death and a useful confirming sign. We report 2 patients who had diastolic flow reversal but survived. One, a 1-month-old boy with status epilepticus, had reversal of diastolic cerebral blood flow detected by Doppler ultrasound soon after admission. Reversal disappeared after medical management for increased intracranial pressure and seizure control. He recovered without sequelae. The other, a 6-month-old girl with choroid plexus papilloma, had reversal of diastolic flow during abrupt clinical deterioration. Emergent surgical removal of the tumor was performed and she survived with hemiparesis and psychomotor retardation. Our patients demonstrated that even in the presence of diastolic reversal of cerebral blood flow, prompt and effective treatment can avoid a fatal outcome.

Blood Flow Velocity↗
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

Aicardi's syndrome in a female infant with a family history of miscarried male siblings.

Aicardi's syndrome is thought to be an X-linked genetic disease, although the mechanism for transmission remains uncertain. We report on a four-month-old female patient with Aicardi's syndrome. She was born prematurely at 28 weeks' gestation, weighing 1,500 g. Asymmetric myoclonic jerks developed at one month of age. Her left eye showed chorioretinal lacunae and a coloboma on the optic disc, while the right eye was microphthalmic with total retinal detachment. A CT scan disclosed heterotopia and dysgenesis of the corpus callosum. Abnormal development of the thoracic vertebrae was also evident. The most remarkable aspect of this case was that the patient's mother had suffered three miscarriages. Two are known to have been male, but the other gender is unknown. This family history may support the theory that there is a factor, lethal for males, involved in the genetic transmission of Aicardi's syndrome.

Abnormalities, Multiple↗
PubMed1992

Early diagnosis of a vein of Galen aneurysm: report of a case.

Congenital vascular malformation with an aneurysm of the vein of Galen is rarely seen, particularly in the prenatal period. With the advancement of diagnostic techniques such as ultrasonography, we were able to detect a case prenatally and to diagnose it postnatally.

Cerebral Veins↗
PubMed1990

The obstetric management in very-low-birth weight infants.

Eighty-three very-low-birth weight (VLBW) infants weighing between 500 g and 1,500 g were studied. The neonatal morbidity and mortality were 86.7% and 18.1%, respectively. Sixty-six point seven percent (8/12) of the infants weighing under 1,000 g suffered from a periventricular-intraventricular or intracranial hemorrhage (PVH/IVH) and their mortality rate was 50%. The incidence of PVH/IVH was 52.1%, and the mortality rate was 12.7% when the birth weight was between 1,000 g and 1,500 g. Forty-nine percent of the PVH/IVH took place on the first day of neonatal life, and 93% developed within 5 days after delivery. Cesarean section neither reduced the incidence of PVH/IVH nor increased the survival rate whether in cephalic or breech presentation. The incidence of PVH/IVH was not affected by type of presentation or the interval between the rupture of membranes and the delivery. Respiratory distress syndrome (RDS) and the requiring of a ventilator for ventilation significantly increased the incidence of PVH/IVH, while a low Apgar score (less than 3) at 5 minutes did not.

Apgar Score↗
PubMed1989

Brain abscesses in children--a cooperative study of 83 cases.

This study reviews our experience in 83 cases of brain abscesses in children diagnosed at seven teaching hospitals during the 10-year period from June 1978 to July 1987. The average age of the patients was 7 years, with 12% of them less than 1 year old. The male-to-female ratio was 1.7:1. Of the brain abscesses, 90.4% were detected by CT brain scan. A total of 50.6% patients had congenital heart disease, and 20.4% patients had sepsis and/or meningitis. Only 6% cases had ear, nose, and throat infection. Sixty-eight (81.9%) patients received a combination of antibiotics and surgical treatment. The cerebral abscesses were totally excised in 26 cases, aspirated and partially excised in 6, and aspirated in 32. Sixty patients had pus cultures from the cerebral abscesses. Organisms were isolated in 29 (49.2%) of them. Streptococcus was by far the most common organism. The overall outcome was: 49 (59%) alive; 16 (19.3%) dead; 18 (21.7%) lost to follow-up. Among the 16 mortalities, the causes of death were due to failure to treat the diseases causing the brain abscesses. We had a better outcome in patients whose cerebral abscesses were totally excised or whose abscesses were aspirated, and in patients who were older than 1 year of age.

Adolescent↗