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Biomedical subjects

A Chraibi

Publications and source records attributed to A Chraibi.

12 recordsLinked to original sources

[Pure gonadal dysgenesis XX and XY: observations in fifteen patients].

BACKGROUND: Pure gondal dysgenesis is characterized by impuberism with a female phenotype without genital ambiguity. The aim of the study is to describe the diagnostic and therapeutic patterns as well as the clinical features. PATIENTS AND METHODS: A retrospective study of 15 patients with pure gonadal dysgenesis (15 patients, 46 XX and two 46 XY). Clinical parameters, familial cases, serum gonadotropin levels, pelvic ultrasonography, endoscopic data, karyotype, analysis of SRY (sex determining Y chromosome) and therapeutic control and clinical course were recorded. RESULTS: Average age at diagnosis was 21+/-2.83 years. Primary amenorrhea was the most frequent reason for consultation. A familial case was found in five patients. The association of sensorineural deafness was noted in one patient, suggesting Perrault's syndrome. Serum gonadotropin levels were elevated. Celioscopic evaluation carried out for six patients confirmed the diagnosis. There was one case of uterine and vaginal aplasia association (Mayer-Rokytansky-Küster-Hauser syndrome). In one XY patient, SRY analysis was normal. Prophylactic gonadectomy was performed in both XY patients. Substitution therapy was initiated in 11 patients. Follow-up in 6 patients revealed development of secondary sexual characters. DISCUSSION: The clinical, biological and histological features of our patients presenting pure gonadal dysgenesis XX were in agreement with earlier reports in the literature. Familial cases suggest possible autosomal transmission. The lack of a mutation in XY patients suggests a post-transcription anomaly. Complete or parital dysgenesis can be identified by histological analysis of the gondads. CONCLUSION: Study of sex determining genes should provide new perspectives for earlier diagnosis and treatment of pure gondadal dysgenesis.

Adult↗

Gender-specific leptinemia and its relationship with some components of the metabolic syndrome in Moroccans.

The levels of the liporegulatory hormone leptin are increased in obesity, which contributes to the metabolic syndrome; the latter is associated with elevated cardiovascular risk and morbidity. Leptin may play a role in the metabolic syndrome since correlations have been observed between serum leptin levels and several components of the metabolic syndrome. The association of leptinemia and hypertension or diabetes is inconsistent. Leptin levels are higher in females versus males and obese versus lean individuals. We investigated if correlations exist between leptin levels and several indices of the metabolic syndrome in obese and lean Moroccan subjects with (63 males, 129 females) and without (123 males, 234 females) diabetes and/or hypertension. Plasma glucose and insulin and systolic and diastolic blood pressures were higher in obese versus lean individuals. Obesity had no effect on lipid profile, plasma IGF-1, or C-peptide levels. Leptin levels were higher in females versus males and in obese versus lean individuals. The levels correlated significantly with body mass index. Serum leptin concentration did not correlate with either systolic or diastolic blood pressure, although there was a trend for higher blood pressure with increased leptin levels in females. There was no significant difference in leptin levels between NIDDM patients and healthy controls. However, in hypertensive patients, leptin levels were significantly higher in both lean males and females with diabetes as compared to those without diabetes. Similarly, the higher leptin levels paralleled elevated insulin levels in obese nondiabetic males and females, and in male and female diabetics with hypertension. Correlations were observed between leptin levels and C-peptide (an estimate of endogenous insulin secretion), but not with serum IGF-1. The calculated values of HOMA-IR, a marker of insulin resistance, were somewhat higher, parallel with elevated leptin levels, in obese male and female individuals compared to their lean counterparts. There was no relationship between leptin levels and serum lipids. There was a trend for increased serum uric acid levels with higher leptin concentrations. Thus, leptinemia is related to some components of metabolic syndrome, and in turn, it may contribute to the syndrome. This study is novel in that relationships were determined between leptin levels and various indices of metaboli syndrome in a large population of the same ethnic/regional background.

Aged↗

Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit.

The autosomal recessive form of type I pseudohypoaldosteronism (PHA-I) is an inherited salt-losing syndrome resulting from diminution-of-function mutations in the 3 subunits of the epithelial Na+ channel (ENaC). A PHA-I stop mutation (alpha(R508stop)) of the ENaC alpha subunit is predicted to lack the second transmembrane domain and the intracellular COOH-terminus, regions of the protein involved in pore function. Nonetheless, we observed a measurable Na+ current in Xenopus laevis oocytes that coexpress the beta and gamma subunits with the truncated alpha subunit. The mutant alpha was coassembled with beta and gamma subunits and was present at the cell surface at a lower density, consistent with the lower Na+ current seen in oocytes with the truncated alpha subunit. The single-channel Na+ conductance for the mutant channel was only slightly decreased, and the appearance of the macroscopic currents was delayed by 48 hours with respect to wild-type. Our data suggest novel roles for the alpha subunit in the assembly and targeting of an active channel to the cell surface, and suggest that channel pores consisting of only the beta and gamma subunits can provide significant residual activity. This activity may be sufficient to explain the absence of a severe pulmonary phenotype in patients with PHA-I.

Amiloride↗

Comparison of NovoPen 3 and syringes/vials in the acceptance of insulin therapy in NIDDM patients with secondary failure to oral hypoglycaemic agents.

This open, randomised, cross-over study compared the acceptance and safety of NovoPen 3 with that of conventional syringes and vials when initiating insulin treatment in 96 NIDDM patients with secondary failure to oral hypoglycaemic agents. These patients had not previously been treated with insulin. All patients used each insulin administration system for 12 weeks. Group A started therapy using NovoPen 3 and crossed over to syringe/vial administration; Group B started with syringe/vial administration followed by NovoPen 3. In total, 78 patients completed the study. Most patients in Group A initially found the insulin injections very easy or easy and many of those who found injections easy at first found them very easy by the end of week 12. During the first period, patients in Group B found insulin administration more difficult than those in Group A. Injection pain was significantly lower with NovoPen 3 than with syringes and vials (P = 0.0018). Patients in Group B reported a significantly lower level of injection pain after the switch to using NovoPen 3 (P = 0.0003). Acceptance of insulin injections was significantly higher by patients using NovoPen 3 than by those using syringes and vials (P = 0.0059). Setting and drawing up the dose of insulin was also easier for patients using NovoPen 3 (P = 0.0490). At the end of the study, most patients (89.5% (68/76 replies)) said that they preferred NovoPen 3 to syringes and vials. Glycaemic control improved compared with baseline after starting insulin therapy, with no differences between Groups A and B, or between the two injection systems. The number of reported hypoglycaemic episodes was very low and was not significantly different between Groups A and B, or between the two administration systems. No treatment-related adverse events were reported. We conclude that use of NovoPen 3 provides better acceptance of insulin injection than use of conventional syringes and vials during initiation of insulin therapy in NIDDM patients with secondary failure to treatment with oral hypoglycaemic agents.

Administration, Oral↗

An epithelial serine protease activates the amiloride-sensitive sodium channel.

Sodium balance, and ultimately blood pressure and extracellular fluid volume, is maintained by precise regulation of the activity of the epithelial sodium channel (ENaC). In a Xenopus kidney epithelial cell line (A6), exposure of the apical membrane to the protease inhibitor aprotinin reduces transepithelial sodium transport. Sodium-channel activity can be restored by subsequent exposure to the nonspecific protease trypsin. Using A6 cells and a functional complementation assay to detect increases in ENaC activity, we have cloned a 329-residue protein belonging to the serine protease family. We show that coexpression of this protein with ENaC in Xenopus oocytes increases the activity of the sodium channel by two- to threefold. This channel-activating protease (CAP1) is expressed in kidney, gut, lung, skin and ovary. Sequence analysis predicts that CAP1 is a secreted and/or glycosylphosphatidylinositol-anchored protein: ENaC activity would thus be regulated by the activity of a protease expressed at the surface of the same cell. This previously undiscovered mechanism for autocrine regulation may apply to other ion channels, in particular to members of the ENaC family that are present in neurons and epithelial cells.

Amino Acid Sequence↗

Combined liver and kidney transplantation in patients with chronic nephritis associated with end-stage liver disease.

A variety of renal diseases can be associated with end-stage liver diseases requiring orthotopic liver transplantation (OLT), including cirrhosis-associated glomerulonephritis (GN), and nephropathy unrelated to the liver disease. A retrospective survey showed that nine patients undergoing liver transplantation in our centre had histologically proven GN or interstitial nephritis with renal failure and/or nephrotic-range proteinuria, and experienced severe complications post-OLT since nephrotoxic immunosuppressive drugs (CsA and FK506) could not be adequately given. Four of the nine patients died. Therefore, combined liver-kidney transplantation has been suggested as first choice treatment in such patients. From January 1990 to February 1994, in patients with end-stage liver disease referred for OLT, and who presented with unexplained renal function impairment and/or significant proteinuria, severe nephropathy was confirmed by renal biopsy in nine: four mesangiocapillary GN with immune deposits, one membranous nephropathy, two diabetic glomerulosclerosis and two interstitial nephritis. All underwent liver transplantation immediately followed by kidney transplantation. The postoperative period was uneventful, and neither death nor renal failure were recorded. Combined transplantation resulted in all patients in the normalization of renal function, and in the disappearance of proteinuria within the first postoperative month. From 6 months to 4 years post-transplant, the renal function remained within normal ranges in all patients. Routine renal transplant biopsy was performed in two patients with pre-transplant cirrhosis-associated GN, and showed no evidence of recurrence of the original nephropathy. We conclude that combined liver-kidney transplantation is an adequate therapeutic option in patients with end-stage liver disease associated with advanced kidney disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

[Multocida Pasteurella and leg ulcer].

INTRODUCTION: We observed two cases of Pasteurella and discuss the role of bacterial sampling in ulcerations of the lower limb. CASE REPORTS: In the first case, Pasteurella was discovered in an ulceration of the lower limb and was cured with no particularly specific care. In the second case, Pasteurella had been inoculated by scratching an ulceration and could not be cured without specific treatment. DISCUSSION: No specific pathological consequence in chronic carriers could be possible, a situation which has often been reported in the literature. Pasteurella is an unusual specific cause of ulcerations of the lower limb.

Aged↗

[Bilateral gynecomastia revealing malignant feminizing adrenocortical carcinoma].

We report here a new case of feminizing adrenocortical carcinoma revealed by a bilateral gynecomastia in a 50 year old man. The malignant character was already suspected on clinical and hormonal data. It was confirmed by the pathology. The op'DDD treatment of three weeks was of too short duration to allow any opinion on its efficacy.

Adrenal Cortex Neoplasms↗