GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

Isolated hypoparathyroidism is an uncommon metabolic disorder characterized by hypocalcemia and hyperphosphatemia, with absent or low levels of PTH. It may present as an apparently sporadic disorder or may be transmitted in families as a genetic trait. Mutations of the calcium-sensing receptor gene and of the preproPTH gene have been reported in occasional cases, and a mutation of the parathyroid-specific transcription factor GCMB gene has been reported in one familial case.

Surgical attitude towards carcinoid tumour of the appendix. Review of the literature.

Carcinoid tumours of the gastrointestinal tract are most frequently located at the appendix. We report two cases: In the first case, we realized a simple appendicectomy. In the second case, two weeks after the appendicectomy was performed, according to the histological characteristics of the tumoral specimen, the patient underwent a laparoscopic right hemicolectomy with regional lymphadenectomy.

Guidelines to laparoscopic management of acute cholecystitis.

Objective: The present work aims at identifying preoperative variables that may help the surgeon choosing the most appropriate operative approach in various clinical presentation of acute cholecystitis.

Summary Background Data: Conversion rates up to 60% have been reported for laparoscopic management of acute cholecystitis. Previous works indicate that the severity of the gallbladder inflammatory process represents the main cause of laparoscopic conversion.

Mucinous cystadenocarcinoma of the appendix. A rare tumour of the right iliac fossa.

A case of mucinous cystadenocarcinoma of the appendix is presented. The clinical feature is a painful syndrome of the right iliac fossa. In our observation, the diagnosis was not allowed by preoperative imaging.

[Congenital sideroblastic anemia in an infant].

Unlabelled: Sideroblastic anemia is rare in infants. When it occurs, it is generally hereditary and X-linked.

Case Report: A microcytic anemia without iron deficiency was diagnosed in a 2-month old infant with probable acquired cytomegalic infection.

[The ambulatory cancer patient treated by chemotherapy].

The success of cancer chemotherapy in ambulatory patients depends on the perfect knowledge of the various side effects of the drugs and moreover on a close cooperation and comprehension between the medical staff, the family practitioner and the patient. Quality of life is one of the most important aims of the treatment in oncology, especially in an ambulatory setting.

[Hypercoagulable states: definition and general mechanisms].

Hypercoagulable states are characterized by an increased risk for developing venous and arterial thrombosis. This situation is the consequence of inbalance of the hemostatic activity (fibroinformation > fibrinolysis). Primary and secondary hypercoagulable states are reviewed and clinical situations mandatory for a laboratory evaluation are discussed.

[The appropriate use of clinical biological tests in hypercoagulability].

Biological markers who are associated with hypercoagulability are of two types: Markers of activation: among them, the most interesting are the D-dimers which are good tools of diagnostic for the deep venous thrombosis and the pulmonary embolism. Thanks to their high negative predictive value. Etiological factors of hypercoagulable states and thrombosis, in other words: the "hypercoagulability chek up".

[A rare breast tumor: mammary fibromatosis. Two case reports and a review of the literature].

Aggressive fibromatosis of the breast is an uncommon benign disease. The clinical and X-Ray findings can simulate breast cancer. The diagnosis relies on histology.

[Analysis of the results of 137 subclinical breast lesions excisions. Value of ultrasonography in the early diagnosis of breast cancer].

Objective: Ultrasonography is invaluable for evaluation of palpable masses and masses detected by mammography. Ultrasound has no proved role in breast screening. Between 1991 and 1994, we included ultrasonography routinely in our screening mammography prescription, not only for evaluation of mass detected by mammography but also in radiographically dense, non-radiolucent breast.

[Sudden death].

Sudden death accounts for about 7000 deaths per year in Belgium. Everyone could be concerned, from the newborn to the octogenarian. Due to the scientifical and technical progresses of our rescue teams, our hospitals are more often confronted with resuscitated patients.

Radial club hand and Holt-Oram syndrome.

The authors describe the case of a young African girl born with a radial club hand associated with a pedicled floating thumb, no other orthopaedic malformation was detected. A ventricular septal defect necessitated surgery in emergency. In front of such malformative association, the Holt-Oram syndrome has been evoked.

Tuberculous peritonitis in an adolescent male.

Objective: To report the use of a new diagnostic approach in children with tuberculous peritonitis.

Patient: A 14-year-old boy with tuberculous peritonitis.

Results: None of the new diagnostic techniques helped us to make our diagnosis.

[Kidney cancer: fortuitous discovery of a para-uterine mass at the beginning of pregnancy].

The authors relate the case of an incidental detection of a renal cell carcinoma in pregnancy. The tumor appeared as an heterogeneous adnexial mass. Special consideration for the diagnostic evaluation was taken because of pregnancy and a minimal number of CAT scan was performed.

Chronic arsenicism: criminal poisoning or drug-intoxication? Report of two cases.

We report two cases with chronic arsenicism. The first one is a young 37-year-old woman who presents leucomelanoderma, plantar keratoderma, polyneuropathy of the legs and transversal striae of the nails. After investigations, criminal intoxication with arsenic caused by her own sister was discovered.

[Epidemiology and etiopathogeny of necrotizing fasciitis and streptococcal shock syndrome].

A significant increase in the frequency of necrotizing fasciitis caused by streptococci of group A has recently been noted. The disease usually appears in individuals without obvious risk factors. The initial lesion is often quite ordinary, and the evolution towards a toxic shock very swift.

[Streptococcus beta hemolytic necrotizing fasciitis. 5 cases in the Brussels area].

In the Brussels area five cases of necrotizing fasciitis occurred during the past two years in patients devoid of any pathology likely to lower the immune defence mechanisms. Alcoholism and the use of non-steroidal anti-inflammatory drugs seem to act as contributory factors. Necrotizing fasciitis develops alone or as complication of a pre-existent dermo-hypodermic infection.