[Characterization of RET proto-oncogene C634Y mutation in a Moroccan family with multiple endocrine neoplasia type 2A]. / Caractérisation de la mutation C634Y du proto-oncogène RET dans une famille marocaine de néoplasie endocrinienne multiple de type 2A.

Medullary thyroid carcinoma (MTC) is a rare cancer which originates from the calcitonin producing "C" cells of thyroid gland. It presents in as isolated form or as part of the multiple endocrine neoplasia type 2 (MEN 2). The familial form of MTC which frequency remains underestimated, account for 25 to 40% of all MTC presentations. All hereditary forms are transmitted in an autosomal dominant manner and are due to proto-oncogene RET germ line mutations. Although MCT is relatively rare, preclinical or prebiological diagnosis can be achieved with genetic screening with high specificity and sensitivity. Early diagnosis is crucial for disease prevention. In this study we identified the first RET mutation underlying NEM 2A in Morocco. The C634Y mutation was present in the heterozygous state in a Moroccan family with MEN 2A. Genetic screening showed that six asymptomatic members of this family were not C364Y carriers. This report should contribute to the development of genetic screening for NEM 2 and F-MTC in Morocco.

[Evaluation of bone mineral density in hyperthyroid patients before and after medical therapy]. / Evaluation de la densité minérale osseuse chez les patients hyperthyroïdiens, et après contrôle de l'hyperthyroïdie par traitement médical.

Osteoporosis is a common complication of hyperthyroidism, but it is not often evaluated. The aim of this study is to examine bone mineral density (BMD) (dual energy X-ray absorptiometry: DEXA) in lumbar spine (L1-L4), femoral neck (FN) and Ward's triangle (TW) in 45 hyperthyroid patients (group A: n 25 active hyperthyroidism, group B: n 20 controlled hyperthyroidism on medical therapy, after a mean of 7 months of euthyroidism), compared to control group (group C: n 22). These 3 groups are adjusted by age, sex, menopausal status and BMI. In hyperthyroid patients (group A), as compared to the control group, we noticed a significant reduction of BMD (z score) in different sites, more markedly in the lumbar spine (p L1-L4: 0,005; p FN: 0,011; p TW: 0,019). In group A, no differences were found between BMD values after adjustment for Z score whatever the menopausal status (p L: 0.12; p FN: 0.33; p TW: 0.09) and degree ofhyperthyroidism (p L: 0.48; p FN: 0.41; p TW: 0.21). The degree of BMD in group B patients was different from that of patients in group A (p L: 0.37; p FN: 0.28; p TW: 0.31). and was significantly lower than in those of group C except for the TW (p L: 0.009; p CF: 0.038; p TW: 0.068). We conclude that it is important to consider that after reaching euthyroidism hyperthyroidism patients present a bone risk.

[Fighting against Buruli ulcer: the Côte-d'Ivoire experience]. / La lutte contre l'ulcère de Buruli. experience de la Côte-d'Ivoire.

Caused by Mycobacterium ulcerans, Buruli ulcer is an infectious disease which leads to large cutaneous ulceration and is responsible for huge socio-economic consequences. Since 1997 the World Health Organization has started a global Buruli ulcer initiative in which African endemic countries are committed. After an epidemiological background of the disease in Côte-d'Ivoire and a description of the different clinical aspects, we report the main disease management actions carried out in the country by the National Program for Buruli ulcer control from 1998 to 2003. It seems that surgical team missions carried out in health center to treat cases, early detection and treatment of cases together with the implementation of a specific poly-chemotherapy lead to an effective control of the disease.

[Pure gonadal dysgenesis XX and XY: observations in fifteen patients]. / Dysgénésies gonadiques pures XX et XY: à propos de 15 cas.

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.

[Gonadal dysgenesis associated with Mayer-Rokitansky-Küster-Hauser syndrome: a case report]. / Association dysgénésie gonadique et syndrome de Rokitansky Kuster Hauser: à propos d'un cas.

Gonadal dysgenesis with female phenotype is defined as the absence or insufficient development of the ovaries. Hypogonadism or impuberism are variable, depending on the degree of gonadal development. Mayer-Rokitansky-Küster-Hauser syndrome is a rare malformative anomaly (1/5000 women) associating uterine and vaginal aplasia with normal ovaries. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. Hormone assay revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome. There were no other morphological malformations. An association between these two conditions is very exceptional and appears to be coincidental, independent of chromosomal anomalies. Hormone substitution therapy remains the only therapeutic option. Hormone substitution is aimed at triggering the development of secondary sexual characters and prevent osteoporosis. There remains the unsolved problem of infertility.

Treatment of type 1 diabetes with insulin lispro during Ramadan.

OBJECTIVE: To compare insulin lispro with regular human insulin with respect to blood glucose control and frequency of hypoglycaemia in patients with type 1 diabetes who wished to fast during the month of Ramadan. RESEARCH DESIGN AND METHODS: Insulin lispro or regular human insulin was given together with NPH insulin, twice daily before the morning and evening meals, for two weeks each in an open-label, randomised, cross-over design, and 64 patients completed the protocol. Blood glucose was self-monitored at fasting morning and evening, and 1-h and 2-h after the post-sunset meal on three consecutive days at the end of each treatment period. RESULTS: The 2-h blood glucose excursion after the post-sunset meal was significantly (p=0.026) lower with insulin lispro (2.50 +/- 0.46 mmol/l) than with regular human insulin (3.47 +/- 0.49 mmol/l). Daily insulin doses did not differ between treatments but compliance with recommended time of injection was better with insulin lispro. Hypoglycaemia incidence (insulin lispro, 15 (23.4%) patients; regular human insulin 31 (48.4%) patients; p=0.004) and frequency (insulin lispro, 0.70 +/- 0.19; regular human insulin 2.25 +/- 0.36 episodes/patient/30 days; p<0.001) were lower with insulin lispro. Five (22.7%) of the episodes during insulin lispro occurred during the nocturnal period compared with 27 (36.5%) of the episodes while on regular human insulin. CONCLUSIONS: Glycaemic control, measured by postprandial glycemic excursions, was improved and hypoglycaemia was significantly reduced with insulin lispro compared with regular human insulin. Patients with type 1 diabetes who insist on fasting during Ramadan may be better managed with insulin lispro.

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.

[Bilateral gynecomastia revealing malignant feminizing adrenocortical carcinoma]. / Gynécomastie bilatérale révélatrice d'un corticosurrénalome malin féminisant.

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.

Effects of hypoxic blood on baroreceptor activity in the dog.

The effects of perfusing arterial baroreceptors with venous blood have been tested on eleven single fibres in nine dogs using a discrete pouch preparation. The frequency of discharge on the afferent baroreceptor fibres was not altered by the composition of blood perfusing them. It is concluded that the reduction in impulse discharge from these baroreceptors during sympathetic nerve stimulation is probably not due to anoxia (or reduced blood flow) at the nerve terminals.

The state-trait anxiety inventory and sex.

This study sought to investigate the response pattern of male and female subjects to the state-trait anxiety inventory (STAI) under anxiety-provoking and normal conditions. The relationship between the STAI and systolic and diastolic blood pressures for both men and women under the above-mentioned conditions was also examined. We found that the STAI X-2 and the systolic blood pressure discriminated between the sexes and the treatment conditions. On the average, both men and women scored significantly higher during the anxiety-provoking stimulus situation than during the normal condition on systolic and diastolic blood pressures. The men seemed to be more prone to anxiety than the women. We also found that, STAI X-1 related negatively to both the systolic and diastolic blood pressures in the anxious condition among men, while it related positively to the systolic and diastolic blood pressure among women. During the "calm" period, while STAI X-1 and X-2 were unrelated to systolic and diastolic blood pressure among men, the STAI X-2 correlated positively with systolic and diastolic blood pressures among women.

[Paralytic shellfish poisoning (author's transl)]. / L'intoxication mytilique ou intoxication paralytique par les fruits de mer.

Different diseases as viral or bacterian gastro-enteritis, Tiphoid, viral hepatitis can come from shellfishes. Less known is the shellfish poisoning although recent outbreaks took place in Spain, France, England, Morocco. Toxic poisoning is caused by a poison produced by dinoflagelates of plankton which get developped in shells and make them dangerous, even cooked, to be eaten. A respiratory failure can result from this neurotropic poison.