Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.

During a study of hereditary motor and sensory neuropathy-Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each family was admitted to the hospital in Sofia for full investigation. Pedigree analysis indicates autosomal recessive inheritance. The disorder is recognized in infancy by the presence of congenital cataracts and microcorneas. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs develops during childhood and leads to severe disability by the third decade. Associated neurological features are a moderate nonprogressive cognitive deficit in most affected individuals together with pyramidal signs and mild chorea in some. Accompanying nonneurological features include short stature, characteristic facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying a combination of neurological and nonneurological features.

Pharmacokinetic investigation with 125I labeled T-actemodulin (TAM).

The aim of the study was to label TAM with radioactive iodine and to follow its distribution in different organs of rats. T-actemodulin is a thymic hormone isolated from calf thymus by a new technology. TAM was labeled according to the method of Greenwood and Hunter. Two major peaks were observed on the gel chromatography: The first peak contained the labeled TAM; the second peak contained 125I which was not bound to the organic compound. Additional purification of the first peak was performed on a Sephadex G-75 column, and the eluate was designated as purified peak I. After a radioimmune testing it could be concluded that TAM was labeled successfully and the peak I contained 125I-TAM. Peak I, purified peak I and the peak II were applied to young male Wistar rats. The radioactivity of pancreas, kidney, spleen, adrenals, liver, thymus, bone marrow, testis and thyroid were measured after killing the animals 10 min, 60 min, and 24 h after the injections. The pharmacokinetic study showed that all organs, except for the thyroid have a higher affinity for labeled TAM than for the free 125I. Higher accumulation of labeled TAM was observed in the pancreas, kidney, adrenals and spleen. A specific uptake of labeled TAM in these organs can be suggested. Functional interrelations between thymus and pancreas, spleen, adrenals are discussed.

[The concentration of carcinoembryonic antigen and carbohydrate antigen Ca-19-9 in the blood serum in cancerous diseases of the gastrointestinal tract]. / Kontsentratsiia rakovo-émbrional'nogo antigena i karbogidratnogo antigena Ca-19-9 v syvorotke krovi pri onkologicheskikh zabolevaniiakh zheludochno-kishechnogo trakta.

The results of comparative investigation of 266 cancer patients, 44 patients with benign G. I. tract diseases and 66 healthy subjects using 2 tumor markers (CEA and Ca-19-9) showed the diagnostic value of both methods, not exceeding 38-42%. The most informative were the data on patients with pancreatic and colorectal cancers as well as in patients with detected metastases. Significant differences in the sensitivity, specificity and diagnostic informative value between the two markers were undetectable.

[Hormonal changes and cellular proliferation following partial resection of the pancreas]. / Khormonalni promeni i kletuchna proliferatsiia sled chastichna rezektsiia na pankreasa.

This study is an attempt to elucidate the histomorphologic changes in the different portions of the gastrointestinal tract, occurring after partial resection of the pancreas with occlusion of the canal of the pancreas that remains. Experiments were carried out on dogs. A number of gastrointestinal hormones were determined by radioimmunoassay. Serious hormonal disturbances after operative intervention on the pancreas were found. The hormonal derangements following pancreatic surgery were attributed to histomorphologic changes in the digestive system.

Changes in the electrical activity of the stomach after partial resection of the pancreas and occlusion of the pancreatic duct.

The electrical activity of the stomach and duodenum of six mongrel dogs was studied under chronic conditions after partial resection of the pancreas and occlusion of the pancreatic duct. Changes in the electrical activity were observed only in the stomach, manifested in the form of groups of slow potentials with accelerated rhythm (over 7 cpm--tachygastria) or delayed rhythm (below 3 cpm--bradygastria). A definite dynamics was observed in the appearance and development of rhythmic disorganization. The duration of the groups of slow potentials with abnormal rhythm increased 10-12 days after surgery. Radioimmunological studies showed a postoperative increase in the glucagon level, paralleled by a decrease in the content of the C-peptide and insulin in the blood plasma. Influsion with insulin (0.5 IU i.v.) regulates the disorganized antral rhythm. The dysbalance in the insulin/glucagon ratio in the blood serum is assumed to be the probable mechanism of the rhythmic disturbances.

Acción del medicamento tribestan sobre la concentración de algunas hormonas en el suero de hombres sanos / Action of tribestan on the concentration of some hormones in healthy men

El Trabajo representa un estudio de la acción del medicamento Tribestan sobre la concentración serica de hormonas hipofisiarias, de la ACTH, STH, LH y FSH, hormonas suprarenales, aldosterona y cortisol, y las hormonas sexuales testosterona y estradiol. Los experimentos se efectuaron en 8 hombres y 8 mujeres entre los 28 y 45 anos de edad. El medicamento se aplicó durante 5 dias por via oral, en dosis de 250 mg, tres (3) veces al dia. Las muestras de suero se tomaron a las 08:00 a.m. y a las 12:00m., antes y despues del tratamiento. Se estableció que el medicamento no cambia significativamente las concentraciónes de las hormonas y la ACTH. Pero el eje hipofisis-gonadas fue influido significativamente tanto en las mujeres, predominantemente con concentración elevada de FSH y estradiol, como en los hombres predominantemente aumentó

Effect of diazepam and medazepam on prolactin secretion.

Pharmacological studies of the effect of Diazepam and Medazepam on prolactin secretion were carried out on sexually mature male albino rats. The experiments were carried out using two series of experimental set-ups. In the first series an analysis was made of the effect of Diazepam in doses of 2 and 4 mg/kg body mass, and of Medazepam in doses of 1 and 10 mg/kg body mass, on the prolactin secretion on the 60th min after a single intraperitoneal injection. The second series of experiments was designed to investigate the effect of Diazepam and Medazepam in the same doses under conditions of acute immobilization of the animals for 60 min. The prolactin levels in the serum were tested using a radioimmunological method. Prolactin secretion decreases after a single intraperitoneal administration of Diazepam in both doses. Prolactin content in the serum was reduced only after a dose of 10 mg/kg body mass. Under conditions of experimental immobilization stress, prolactin secretion was stimulated in the animals from the control group, treated with standard solution used as solvent. Diazepam in both doses administered and Medazepam in a dose of 10 mg/kg inhibit the prolactin secretion stimulated by acute immobilization stress.

[Basal blood level of adrenocorticotropic hormone in diabetes mellitus patients]. / Prouchvaniia vurkhu bazalnoto kruvno nivo na adrenokortikotropniia khormon pri bolni ot zakharen diabet.

A study was carried out on the basal blood level of adrenocorticotropic hormone (ACTH) in 355 patients with diabetes mellitus by a radioimmunologic method. A significant though quantitatively slight elevation of its average value was established versus that of the healthy controls. The changes established reveal a light dependence on sex, age, duration of the disease, type of diabetes, kind of medicamentosus treatment and blood sugar level. No correlation was also established between the hormonal changes and the vasculardegenerative complications with the exception of its insignificantly higher average value in the patients with proliferative retinopathy. The compensation of diabetes leads to normalization of the hormonal level.

[Basal blood level of thyrotropic hormone in diabetes mellitus patients]. / Prouchvaniia vurkhu bazalnoto kruvno nivo na tireotropniia khormon pri bolni ot zakharen diabet.

The basal blood level of the thyrotropic hormone (TTH) was radioimmunologically determined in 160 patients with diabetes mellitus. A significant increase of its average level was established versus that in the control group of healthy subjects. The changes found showed no dependence on sex, age, duration and type of disease, light deviations from the standard body weight and the differences in drug treatment. A light correlation was established between the thyrotropinemia and glycemia as well as an insignificant dynamics of the hormonal blood level after the compensation of the diabetes. The higher TTH level established in the patients without retinopathy requires further studies on the significance of that fact.

[Hyperprolactinemia in chronic kidney failure patients]. / Khiperprolaktinemiia pri bolni s khronichna bubrechna nedostatuchnost.

The determination of the endocrine state of the patients with chronic renal insufficiency is of significance because of the endocrine sexual disorders often observed in those patients. According to literature data, hyperprolactinemia in combination with gonad dysfunction is often observed in the sera of those patients. Hyperprolactinemia was established, with the present study, in the examined 47 patients (18 females and 29 males) with chronic renal insufficiency, the normal physiological difference in prolactin level depending on sex, being eliminated in those patients. The hyperprolactinemia in the patients examined, as compared with the prolactin level in a control group of healthy subjects (10 females and 12 males) is statistically significant (p less than 0.01). Very likely that hyperprolactinemia in the patients with chronic renal insufficiency is complexly conditioned by the disturbed regulation and disturbed degradation and elimination.