Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome.

A 26-year-old woman developed a sudden headache, ptosis, and diplopia. Magnetic resonance imaging and angiography demonstrated a symmetrical lesion from the midbrain to the brainstem, involving the solitary nucleus and multifocal cerebral artery narrowing. Reversible cerebral vasoconstriction syndrome (RCVS) was suspected, and the patient improved after vasodilatation.

[Rapid progressive HTLV-1-associated myelopathy with bronchoalveolar lesions and a long spinal cord lesion extending to almost the entire spinal cord].

We report the case of a 73-year-old woman with progressive gait disturbance for several months and an impaired standing ability. Her symptoms were lower-limb-dominant spastic tetraplegia with normal muscle tonus, hyperreflexia with positive Babinski sign, hypothermesthesia and hypalgesia in bilateral lower limbs, and dysesthesia in the fingers of both hands. Magnetic resonance (MR) images revealed a long lesion extending to nearly the entire spinal cord, and chest computed tomography (CT) revealed diffuse multiple small nodular lesions in the lower parts of the right and left lungs.

New polyenic antibiotics active against gram-positive and gram-negative bacteria. VIII. Construction of synthetic medium for production of mono-chloro-congeners of enacyloxins.

New antibiotics enacyloxins (ENXs) are a family of non-lactonic polyene antibiotics produced by Frateuria sp. W-315. For the production of antibiotics, we had to employ two-step fermentations, the first is the production of spent medium of Neurospora crassa and the second is the production of antibiotics by Frateuria.

Absence of nonclassical congenital adrenal hyperplasia in patients with precocious adrenarche.

We studied 31 patients (28 girls and 3 boys), ranging in age from 3.2-7.9 yr, with precocious adrenarche defined by the presence of early sexual hair development, no signs of virilization, and bone age within +3 SD of the mean for chronological age.

Carbohydrate tolerance in cystic fibrosis is closely linked to pancreatic exocrine function.

We evaluated carbohydrate tolerance in nine thin cystic fibrosis (CF) patients and in six controls, measuring responsiveness to the following insulinotropic secretagogues: oral glucose, IV glucose, and IV tolbutamide. Glucose responses segregated patients into two groups: Group I with normal carbohydrate tolerance associated with normal to slightly increased insulin responses, and Group II with impaired carbohydrate tolerance associated with insulinopenia. This latter group included one patient with frank diabetes.

Insulin resistance in a young man with cystic fibrosis.

An 18-year-old man had cystic fibrosis (CF) and insulin-resistant carbohydrate intolerance characterized by (1) obesity, basal hyperinsulinemia, and hyperglucagonemia; (2) impaired oral glucose tolerance; (3) hyperinsulinemia in response to oral and intravenous (IV) administration of glucose and to IV administration of tolbutamide; (4) exaggerated gastric inhibitory polypeptide secretion following orally administered glucose; and (5) diminished sensitivity to insulin administered IV compared with other patients with CF. Both parents also demonstrate basal and stimulated hyperinsulinemia in response to orally administered glucose. The long-term outlook for patients with CF is improving, and more patients are surviving childhood.

A controlled trial of a physical fitness program for fifth grade students.

The relative effectiveness of a structured physical fitness program was compared with that of the customary organized activities for fifth grade students. The level of fitness was compared at the beginning and end of the nine-month academic year as well as after the three-month summer recess during which time no structured program was offered. The experimental group showed significant improvement over the control group in flexibility, strength and endurance during the school year; part of that improvement was maintained over the summer months; the physical fitness program had a positive influence on the general activity level of the students and was adopted by nine of the other 10 classrooms in the experimental school.

Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome.

The most common cardiac defect in Turner syndrome has been described previously as coarctation of the aorta. We have evaluated 35 consecutive patients with Turner syndrome by clinical examination and by M-mode and two-dimensional echocardiography. Twelve patients (34%) had isolated, nonstenotic bicuspid aortic valve.

Prepubertal gynecomastia caused by an adrenal tumor. Diagnostic value of ultrasonography.

Prepubertal gynecomastia is a rare disorder that may be associated with adrenal or testicular tumors. An adrenal tumor causing a mixed feminizing-virilizing syndrome in a 6-year-old boy was identified by ultrasonography, whereas excretory urography failed to show any abnormality. Highly elevated estrone concentrations were found in the plasma, as were more modestly increased levels of estradiol, testosterone, androstenedione, and 11-deoxycortisol.

The use of theophylline as an in vivo probe of adrenocortical function.

The first step in the stimulatory action of most polypeptide hormones, including ACTH, is interaction with a specific target organ plasma membrane receptor. Theophylline, a nonspecific stimulus of several endocrine processes, does so presumably by circumventing the receptor step and directly increasing cAMP by inhibiting phosphodiesterase-mediated hydrolysis. Five patients with adrenal insufficiency, documented by a lack of cortisol secretion in response to exogenous ACTH, underwent a 4-h iv infusion of theophylline.