Biomedical subjects
Publications and source records attributed to W M Toyama.
Gastroschisis is a rare congenital abdominal wall anomaly with a pathogenesis and mode of transmission that are not completely understood. There are few published reports of familial gastroschisis and no reported case of vertical transmission. The authors report the first published case of a mother who had gastroschisis and gave birth to a son with gastroschisis, which supports a genetic etiology.
Medullary thyroid carcinoma (MTC) develops in all patients with multiple endocrine neoplasia type IIb (MEN IIb), a rare syndrome that either occurs sporadically or is inherited in an autosomal dominant pattern. The MTC in patients with MEN IIb has been reported to be biologically aggressive with onset at a young age and rapid progression as evidenced by widespread metastases and death, frequently in the teenage years. Seven children, aged 2 to 11 years (mean, 7 years), from three kindreds with MEN IIb were evaluated for evidence of tumor recurrence 3 to 10 years following thyroidectomy. In one child, age 11, a thyroid mass was palpable preoperatively. However, in the remaining six children (aged 2 to 10 years), the diagnosis of MTC was established by an increased concentration of plasma calcitonin (CT), either basally or following pentagastrin (Pg) stimulation. All patients underwent total thyroidectomy with removal of central lymph nodes from the neck. At the time of surgery, six children were found to have bilateral macroscopic MTC, five without and one with cervical metastases. One child (age 2 years) had C-cell hyperplasia, a premalignant precursor of MTC. Currently, five of the seven children are without evidence of recurrent disease clinically and have normal plasma CT levels (less than 0.3 ng/mL) following calcium (Ca) and Pg stimulation 3, 3, 10, 10, and 10 years after thyroidectomy. Two of the seven children have biochemical evidence of residual MTC.(ABSTRACT TRUNCATED AT 250 WORDS)
Five patients were encountered in whom agenesis either of the proximal extrahepatic biliary ducts (four patients) or total absence of the extrahepatic bile ducts and gall bladder (one patient) were evaluated. Jaundice was diagnosed from at birth to 3 weeks of age (average, 1.2 weeks of age) in these five patients. The patients' ages ranged from 2 to 8 weeks at the time of surgical exploration. Findings at surgery showed either absence of the entire extrahepatic biliary ducts or proximal bile duct remnants, no evidence of an inflammatory process, and no fibrous mass present at the portahepatis. Liver biopsy specimens showed histological evidence of cholestasis, minimal bile duct proliferation and fibrosis, and nearly complete absence of inflammation. In three patients in whom a portocholecystostomy was performed, no bile flow was obtained. Two patients underwent surgical exploration and liver biopsy only. One patient died as a result of severe congenital heart disease at 3 months of age. Four patients have undergone successful hepatic transplantation. These patients are now 10 months to 6 years of age. In our review of the literature, we were unable to find any reports of bile duct agenesis despite the fact that it appears to be a known phenomenon. We conclude that patients with biliary agenesis have early onset of jaundice when compared with patients with biliary atresia, absence of inflammation at the portahepatis at the time of surgical exploration, as well as on biopsy of the liver. Portoenterostomy or portocholecystostomy are likely to fail. We believe that liver transplantation is the treatment of choice for this rare entity.
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We have found that with proper selection and preoperative preparation, a major portosystemic shunt can be done with considerable safety in a majority of cystic fibrosis patients and thus provide them with significant palliation and improved quality of life.
Four hundred and sixteen open pulmonary biopsies through limited thoracotomies are reported. Tissue sufficient for diagnosis was obtained in all cases. Case selection, operative technique, spectrum of diagnoses, complications, and comparisons with other techniques are defined. Diagnoses by category were as follows: occupational, 105 patients (25 percent); neoplastic disease, 80 patients (19 percent); specific histologic diagnosis, (ie, sarcoidosis), 70 patients (17 percent); specific infection, 23 patients (6 percent); vascular diagnosis, 16 patients (4 percent); and nonspecific pulmonary disease, 122 patients (29 percent). Pneumothorax, minor in most cases, was the most common complication. It occurred in 97 (23 percent) of the patients, but only 24 (6 percent) required the placement of a chest tube. Pleural effusion occurred in 106 patients (25 percent) and was minor. Hemothorax occurred in two (0.5 percent) and superficial wound infection in three (0.7 percent). Overall mortality was 4.5 percent (19 patients). Only two deaths (0.4 percent) were related to the procedure. Open pulmonary biopsy remains our diagnostic method of choice in diffuse lung disease of undetermined etiology.
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