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Biomedical subjects

I S Salti

Publications and source records attributed to I S Salti.

At least 19 recordsLinked to original sources
PubMed2005

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumours, which are frequently carcinomas, and ossifying jaw fibromas. In addition, some patients may develop renal tumours and cysts. The gene causing HPT-JT, which is referred to as HRPT2 and is located on chromosome 1q31.2, encodes a 531 amino acid protein called PARAFIBROMIN. To date 42 mutations, of which 22 are germline, have been reported and 97% of these are inactivating and consistent with a tumour suppressor role for HRPT2. We have investigated another four HPT-JT families for germline mutations, searched for additional clinical phenotypes, and examined for a genotype-phenotype correlation. Mutations were found in two families. One family had a novel deletional-insertion at codon 669, and the other had a 2 bp insertion at codon 679, which has been reported in four other unrelated patients. These five unrelated patients and their families with the same mutation were not found to develop the same tumours, thereby indicating an absence of a genotype-phenotype correlation. An analysis of 33 HPT-JT kindreds revealed that affected women in 13 HPT-JT families suffered from menorrhagia in their second to fourth decades. This often required hysterectomy, which revealed the presence of uterine tumours. This resulted in a significantly reduced maternal transmission of the disease. Thus, the results of our analysis expand the spectrum of HPT-JT-associated tumours to include uterine tumours, and these may account for the decreased reproductive fitness in females from HPT-JT families.

Adult↗
PubMed1995

Continuing medical education.

While continuing medical education (CME) is receiving increasing attention from medical educators and health administrators worldwide, many efforts need to be made to improve its performance and overall effectiveness. Traditionally, CME has depended primarily on periodic courses and conferences. These remain of unproven cost-effectiveness and often the choice of their content is not tailored to meet best the needs of the learners. It is proposed that CME activities be reshaped to depend more on supervised small-group tutorials in which the learner is an active participant in preparation and presentation. Moreover, instead of having CME activities take place once or twice a year in a distant location, a more practical format would be to plan additional activities more frequently, but less condensed, on an ongoing basis and preferably at the place of work all year round. Factors that may increase learner motivation would be to depend not only on attendance at CME activities but also on the introduction of assessment mechanisms that will measure objectively the actual desired advancement of the learners. Incentives for good learners and teachers need to be introduced. The cost of CME is heavy and can be a burden on health authorities and medical institutions. Contributions from the medical/pharmaceutical industry are acceptable provided quality control is assured and conflict of interest is avoided. Increasing use of computer-assisted teaching and modern telecommunication should, in the near future, help to reduce costs and improve effectiveness of most CME programmes.

Developing Countries↗
PubMed1982

Testicular in vitro conversion of progesterone to testosterone and androstenedione in 17 alpha-hydroxylase deficiency.

Incubations of [3H]-progesterone with testicular tissue obtained from a new case of male with 17 alpha-hydroxylase deficiency were performed. The per cent conversion to androstenedione and testosterone was virtually absent when compared to that obtained from an identical incubation performed using testicular tissue from a normal male with cryptochordism. The findings provide an in vitro evidence in support of the existence of 17 alpha-hydroxylase testicular defect in this disorder.

Adolescent↗
PubMed1981

Familial Cushing Disease.

A 28-year-old woman and her niece presented with manifestations of the Cushing syndrome. Endocrine studies, including small-and large-dose dexamethasone-suppression test confirmed the diagnosis of pituitary ACTH excess. The first patient had a sella of normal size and went into clinical and hormonal remission after external pituitary irradiation, and she has remained well of follow-up for 9 years. The niece had an enlarged sella turcica on tomography and is receiving a course of external pituitary irradiation.

Adult↗
PubMed1980

Thyrotropin secreting pituitary tumours: a cause of hyperthyroidism.

Pituitary thyrotropin excess resulting in hyperthyroidism has been previously reported in only 25 patients, of whom 19 had a pituitary tumour. This report describes a patient in whom a thyrotropin-producing pituitary tumour was associated with triiodothyronine thyrotoxicosis. Hypophysectomy was followed by a prompt fall in serum thyrotropin and a return to a euthyroid state.

Adult↗
PubMed1980

Hypercalciuric rickets: a rare cause of nephrolithiasis.

An unusual case of rickets associated with hypercalciuria is described. In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal glucosuria and impaired renal concentration but no renal tubular acidosis. Studies did not support the diagnosis of primary hyperparathyroidism. The findings in the patient were very similar to those in 4 previously reported cases and are suggestive of a new combination of multiple renal tubular defects.

Acidosis, Renal Tubular↗
PubMed1980

Renal lithiasis in Lebanon: I--the chemical types of urinary calculi.

The results of chemical analyses of 429 urinary calculi are presented and classified according to chemical composition. Some of the general features of the different chemical types of the stones are discussed. Although the general distribution of the chemical types of stones in Lebanon is essentially similar to that reported from other countries, the two striking features of this series are: (1) a relatively lower incidence of infection stones (i.e. stones containing magnesium ammonium phosphate) and (2) a relatively higher incidence of stones containing a mixture of uric acid and calcium oxalate and/or calcium phosphate.

Calcium Oxalate↗
PubMed1978

Partial hypopituitarism following septic peritonitis with shock.

A 46-year-old man had a prolonged septic peritonitis with shock that resulted from a perforated appendix at the age of 29, followed, six months later, by the gradual development of partial hypopituitarism. Radiographic studies, including a pneumoencephalogram, did not reveal any evidence of sellar or surprasellar masses. Endocrine studies revealed growth hormone and gonadotropic deficiency and possible adrenocorticotropic hormone deficiency and possible adrenocorticotropic hormone deficiency. The nature of the disease course yielded much speculation in regard to pathogenesis of the condition.

Humans↗