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Biomedical subjects

Y H Chou

Publications and source records attributed to Y H Chou.

At least 109 records · Page 6Linked to original sources
PubMed1995

Umbilical venous line related pericardial effusion in a premature neonate: report of a case.

Cardiac tamponade occurs very rarely, but is life-threatening in the newborn. This paper reports a premature newborn who developed profound shock 25 hours after undergoing umbilical venous catheterization. Echocardiography taken later, showed marked pericardial effusion. An umbilical venous catheter was located in the left atrium. Immediate pericardiocentesis was performed, 11 mL of a clear straw-colored fluid was removed and the umbilical venous catheter was withdrawn into the inferior vena cava. The heart rate and blood pressure recovered immediately. Analysis of the pericardial fluid showed a high glucose level of 2,451 mg/dL. There was no pericardial effusion reaccumulation thereafter. Rapid diagnosis and treatment of pericardial effusion are mandatory to prevent subsequent morbidity and mortality when disastrous episodes, such as in the present case, occur.

Cardiac Tamponade↗
PubMed1995

[Epidermoid cyst of testis: benign testicular tumor].

Epidermoid cyst of the testis is very rare and accounts for approximately 1% of all testicular tumors. In the clinical examination, the testis has a palpable mass. Pathological findings usually reveal a squamous cell lined cyst, containing keratin, and the absence of appendages and teratoma element. If scrotum ultrasonography reveals a target sign suggestive of epidermoid cyst, the testis should be explored through an inguinal incision. Clamp the spermatic cord gently, and perform tumor enucleation. The frozen section is available at the time to check for any malignant cells. If no malignant cells exist, it is important to perform testis-preserving surgery, especially for young adults and children. We report two cases of epidermoid cyst. Serum beta-HCG and alpha-fetoprotein were within normal limits. We review our experience with scrotum ultrasonography and testis-preserving surgery in 2 men with epidermoid cyst to indicate when the clinical and intraoperative characteristics justify testis-preserving management.

Adolescent↗
PubMed1995

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

We report five novel mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation (228Arg-->Gln, 139Thr-->Met, 144Gly-->Glu, 63Arg-->Met, and 67Arg-->Cys) that encodes a nonconservative amino acid alteration. These mutations are each predicted to be in the Ca(2+)-sensing receptor's large extracellular domain. In three families with FHH linked to the Ca(2+)-sensing-receptor gene on chromosome 3 and in unrelated individuals probands with FHH, mutations were not detected in protein-coding sequences. On the basis of these data and previous analyses, we suggest that there are a wide range of mutations that cause FHH. Mutations that perturb the structure and function of the extracellular or transmembrane domains of the receptor and those that affect noncoding sequences of the Ca(2+)-sensing-receptor gene can cause FHH.

Calcium↗
PubMed1995

Recent experience of penile fracture (1989-1993).

Penile fracture is an uncommon injury in the genitourinary organ which occurs following a blunt injury on the rigid penis. Penile fracture with urethral injury is even rarer. A total of 11 new patients with penile fracture were treated at our institution from 1989 to 1993. All of these injuries occurred during sexual intercourse and received immediate surgical repair to preserve the sexual function. Only one patient with complete transection of the urethra received end-to-end anastomosis of the urethra. Unfortunately, he suffered from urethral-cutaneous fistula ten days later. Suprapubic urinary diversion was performed in 3 patients with partial urethral tearing, and they enjoyed satisfactory outcomes during the limited follow-up. Immediate surgical repair of tunica albuginea is recommended for preserving penile function. If associated with partial urethral tear, suprapubic urinary diversion is sufficient to treat urethral lesions.

Adult↗
PubMed1995

Comparison of radioisotopic and ultrasonic scanning in the evaluation of neonatal hypothyroidism.

BACKGROUND: Technetium-99m pertechnetate (Tc-99m) scan is presently the best diagnostic modality to delineate the anatomy of the neonatal thyroid. Because several factors will inhibit Tc-99m uptake in a normal thyroid gland and the Tc-99m scan requires expensive equipment and sometimes raises fear of radiation in parents, the ultrasonography might be an important complementary method for neonatal thyroid disorders. We described our experience with ultrasonography of the thyroid in 52 infants with suspected congenital hypothyroidism to compare the results obtained by using Tc-99m imaging in the same infants. METHODS: From Dec. 1991 to May 1992, 52 neonates with suspected congenital hypothyroidism by newborn screening were referred to Veterans General Hospital-Taipei for confirmatory diagnoses. All of them were investigated with Tc-99m and ultrasonography of the thyroid gland. Results of Tc-99m scan and ultrasonography were compared and analyzed. RESULTS: The ultrasonography failed to identify any ectopic gland and all cases were misinterpreted as hypoplasia or hemiagenesis of thyroid gland, but it never misinterpreted them as normal thyroid glands. The ultrasound never misinterpreted normal thyroid gland, while the Tc-99m scan misguided a normal gland as an athyreotic gland. CONCLUSIONS: The ultrasonography may be adopted as the first line image examination for the babies with suspected congenital hypothyroidism. If sonography shows abnormal thyroid gland such as hypoplasia, hemiagenesis or agenesis, the isotopic scan may be a good complementary method to confirm the diagnosis.

Female↗
PubMed1994

Intestinal schistosomiasis japonica: CT-pathologic correlation.

PURPOSE: To study the pathologic basis of intestinal wall calcification caused by Schistosoma japonicum visualized with computed tomography (CT). MATERIALS AND METHODS: Twelve patients underwent CT of the abdomen to detect what pathologic examination proved to be schistosomiasis japonica. Eight intestinal specimens from five of the patients were subjected to radiography, and the pathologic and radiographic findings were correlated. RESULTS: CT demonstrated curvilinear or nodular calcification in the colon in 11 patients, in the appendix in two, and in the distal ileum in one. In five patients, calcifications resembling tram tracks were found in the sigmoid colon. Pathologic examination of the specimens showed calcified eggs of S japonicum deposited more extensively in the submucosa and subserosa than in the muscularis propria, which led to the tram-track appearance. CONCLUSION: The extensive curvilinear or tram-track calcification found in the colon in patients with schistosomiasis japonica is calcification of deposited eggs.

Aged↗
PubMed1994

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations (> 15 mg/dl). Many cases have occurred in families with familial hypocalciuric hypercalcemia, a benign condition transmitted as a dominant trait. Among several hypothesized relationships between the two syndromes is the suggestion that neonatal severe hyperparathyroidism is the homozygous form of familial hypocalciuric hypercalcemia. To test this hypothesis, we refined the map location of the gene responsible for familial hypocalciuric hypercalcemia on chromosome 3q. Analyses in 11 families defined marker loci closely linked to the gene responsible for familial hypocalciuric hypercalcemia. These loci were then analyzed in four families with parental consanguinity and offspring with neonatal severe hyperparathyroidism. Each individual who was homozygous for loci that are closely linked to the gene responsible for familial hypocalciuric hypercalcemia had neonatal severe hyperparathyroidism. The calculated odds of linkage between these disorders of > 350,000:1 (lod score = 5.56). We conclude that dosage of the gene defect accounts for these widely disparate clinical phenotypes; a single defective allele causes familial hypocalciuric hypercalcemia, while two defective alleles causes neonatal severe hyperparathyroidism.

Chromosome Mapping↗
PubMed1994

Duplex ultrasound of extracranial carotid artery in a male patient of Takayasu's arteritis: a case report.

Takayasu's arteritis is a chronic inflammatory disease of artery. Its etiology is still uncertain. The disease mostly involves aorta and its major branches. We recently examined a young male patient using duplex Doppler ultrasound (DUS). High resolution real-time ultrasound revealed long-segment stenosis over common carotid arteries on both sides and internal carotid arteries, mostly due to adventitia thickening. Doppler ultrasound showed increased blood velocity of bilateral common carotid arteries with spectral broadening. B-mode findings correlated well with those of Doppler's, and all the information obtained from DUS was compatible with those of angiography. DUS is helpful in diagnosis of Takayasu's arteritis and provides hemodynamic data of the diseased carotid arteries. It can also be used as an effective tool for follow-up in patients with Takayasu's arteritis.

Adult↗
PubMed1994

Percutaneous transluminal angioplasty of neck vessels.

BACKGROUND: Although surgical endarterectomy or bypass is regarded as the treatment-of-choice for extracranial cerebral vascular stenosis, percutaneous transluminal angioplasty (PTA) has its role as an alternative procedure for symptomatic patients refractory to medical therapy and/or for whom surgical treatment is contraindicated. METHODS: Occlusive blood vessels were first identified by neurologic, ultrasonic and angiographic studies. Patients were premedicated with heparin and corticosteroid. From a transfemoral approach, double lumen balloon dilatation catheter was guided across the area of stenosis, and inflated two or three times to produce dilatation. Following PTA, patients received anticoagulants and corticosteroid for a period, and were followed by clinical examination, Doppler blood-flow and angiographic studies. RESULTS: Seventeen patients undergoing 26 procedures were included in this study. The lesions involved subclavian artery in nine cases, common carotid artery in seven, internal carotid artery in five and proximal vertebral artery in five. Digital subtraction angiography (DSA) was done immediately after PTA and showed improvement of stenotic segment (residual stenosis < 30%) in 22 vessels. Restenosis occurred in two cases of subclavian artery PTA six months later. There were three complications, including TIA in two cases and hematoma at the puncture site in one case. Clinically, symptomatic improvement was obtained in 13 cases. CONCLUSIONS: In patients with significant atherosclerotic stenosis of neck vessels, PTA is a beneficial procedure for improving blood flow to brain circulation and for alleviating symptoms.

Aged↗
PubMed1993

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

We demonstrate that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis. The Ca(2+)-sensing receptor belongs to the superfamily of seven membrane-spanning G protein-coupled receptors. Three nonconservative missense mutations are reported: two occur in the extracellular N-terminal domain of the receptor; the third occurs in the final intracellular loop. One mutated receptor identified in FHH individuals was expressed in X. laevis oocytes. The expressed wild-type receptor elicited large inward currents in response to perfused polyvalent cations; a markedly attenuated response was observed with the mutated protein. We conclude that the mammalian Ca(2+)-sensing receptor "sets" the extracellular Ca2+ level and is defective in individuals with FHH and NSHPT.

Amino Acid Sequence↗
PubMed1993

Obstructive intestinal herniation due to improper use of a seat belt: a case report.

The term "seat belt syndrome" has been used to describe injuries to the abdominal viscera caused by seat belts during car accidents. These injuries are usually sustained as a result of the rapid deceleration that occurs in front-end collisions, with the consequent compression of the abdominal viscera. The spectrum of injuries includes intestinal perforation or stenosis, mesenteric disruption, and lumbar fracture-dislocation. We present an uncommon case of obstructive herniation in a 2-year-old girl which we believe was due to improper use of a seat belt.

Child, Preschool↗
PubMed1993

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.

Familial hypertrophic cardiomyopathy (FHC) is caused by missense mutations in the beta cardiac myosin heavy chain (MHC) gene in less than half of affected individuals. To identify the location of another gene involved in this disorder, a large family with FHC not linked to the beta MHC gene was studied. Linkage was detected between the disease in this family and a locus on chromosome 1q3 (maximum multipoint lod score = 8.47). Analyses in other families with FHC not linked to the beta MHC gene, revealed linkage to the chromosome 1 locus in two and excluded linkage in six. Thus mutations in at least three genetic loci can cause FHC. Three sarcomeric contractile proteins--troponin I, tropomyosin and actin--are strong candidate FHC genes at the chromosome 1 locus.

Actins↗
PubMed1993

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2.

Alkaptonuria, the first human disorder recognized by Garrod as an inborn error of metabolism, is a rare recessive condition that darkens urine and causes a debilitating arthritis termed ochronosis. We have studied two families with consanguineous parents and four affected children in order to map the gene responsible for alkaptonuria. Coinheritance of either neonatal severe hyperparathyroidism or sucrase-isomaltase deficiency and alkaptonuria provided a candidate location for the mutated genes on chromosome 3. Homozygosity mapping with polymorphic loci identified a 16 centiMorgan region on chromosome 3q2 that contains the alkaptonuria gene. Analysis of two additional nonconsanguineous families supports linkage of alkaptonuria to this single locus (combined lod score = 4.3, theta = 0).

Adult↗
PubMed1993

Ultrastructural features of penile tissue in impotent men.

Penile erection is related to the integrity of penile tissue. In order to study the ultrastructural histopathological changes in penile erectile tissue in impotent men, biopsies were taken from 29 impotent and 5 normal patients during surgical treatment. Light microscopy revealed insignificant histological changes and various degrees of fibrotic change in the corpora cavernosa of impotent men, and electron microscopy revealed severe myopathic, fibrotic changes in the penile tissue. These non-specific changes could not be used to determine the aetiology of impotence, and the relationship between the ultrastructural appearances, the causes of impotence and the results of treatment was unclear. Further studies are required to establish the value of intracorporeal biopsy in selecting treatment for impotent patients.

Adult↗
PubMed1993

[Complications of transurethral resection of prostate].

A total of 342 benign prostatic hypertrophy patients were treated at the Department of Urology, Kaohsiung Medical College Hospital from January 1972 to December 1988. Median duration of operating time was 74.4 minutes, 67 patients (20%) required a blood transfusion and the mean volume of blood per patient transfused was 1019.4 ml. Median post-operative catheter management was 7 days and the median post-operative ward time was 8.6 days. Two patients (0.5%) had a bladder lesion with peritoneal perforation and required a secondary operation for bladder suture. Secondary hemorrhaging return for treatment of clotting was seen in 11 cases (3.2%). Stress incontinence was noted in 11 cases (3.2%). Anterior urethral stricture was noted in 9 cases (2.6%), impotence occurred in only one case (0.3%) and TUR syndrome in 2 (0.6%). There were two post-operative deaths, for a mortality rate of 0.6 percent. The causes of death were sepsis in one patient and acute renal failure in the other.

Aged↗
PubMed1993

Persistent pulmonary hypertension of the newborn associated with excessive pulmonary arterial muscularization: report of an autopsy case.

A 3700-g male infant born at 37 weeks' gestation presented with cyanosis at birth. He was diagnosed as having persistent pulmonary hypertension of the newborn (PPHN) on the basis of persistent hypoxemia, despite continuous mechanical ventilatory support with 100% O2, and right-to-left shunting through the foramen ovale shown by Doppler echocardiography. Treatment with hyperventilation, and administration of tolazoline, prostaglandin E1 and MgSO4 failed to reverse his hypoxemia. High ventilator settings were required, and pneumothoraces ensued. Airway resistance increased gradually with development of hypercapnia and deterioration of hypoxemia. Bradycardia unresponsive to resuscitation occurred, and he died at eight days of age. Postmortem examination of the lungs revealed increased peripheral connective tissue and diffuse extension of medial smooth muscle to the precapillary pulmonary arteries. Excessive antenatal muscularization of the peripheral pulmonary arteries and resultant increased vasoconstriction capacity may have played an important role in the pathogenesis of PPHN in this case.

Humans↗