[Antiphospholipid antibodies in 146 women with repeated pregnancy losses]. / Anticorps antiphospholipides et pertes foetales: étude rétrospective de 146 cas.

Antiphospholipid antibodies are associated with arterial and venous thrombosis and recurrent abortions. However, the prevalence of these antibodies in repeated miscarriages varies in different reports. To obtain quantitative data with restricted criteria and discuss the origin of the variability on the literature, we investigated the presence of antiphospholipid antibodies in 146 women who had 2 or more consecutive pregnancy losses and in 99 women whose pregnancies were successful. Antiphospholipid antibodies (lupus anti-coagulant or anticardiolipin antibodies of 20 or more IgG units) were found in 45% of women with pregnancy losses and in 9% of controls (p < 0.001). The type of loss was determined according to the trimester of pregnancy and the time of the fetal loss. 68% of patients with antiphospholipid antibodies had at least one fetal loss on the second or third trimester compared with 45% of patients without fetal loss (p < 0.01). Further studies should be conducted using more rigorous definition of clinical and laboratory characteristics in a way to allow better comparison between studies.

[Cytological features of acute leukaemia in the central region of Tunisia]. / Aspects cytologiques des leucémies aiguës: à propos de 193 cas colligés dans la région centrale de Tunisie.

In Tunisia, because of an absence of population registry, data on acute leukaemia are scarce. We studied the epidemiological and cytological characteristic of 193 patients with acute leukaemia. Haemograms were carried out and slides for peripheral blood and bone marrow were prepared for each patient. The age range of the patients was 10 months to 83 years with a predominance of males (ratio: 1.27). As regards type of leukaemia, 40.4% had acute lymphoblastic leukaemia, 51.8% had acute myeloblastic leukemia and 7.8% were unclassified. Diagnosis was made at less than 10 years in 31.6% of cases and 72% of these were the lymphoblastic type. Anaemia (Hb < 11 g/dL was found in 85% of cases, thrombocytopenia (platelets < 100 000/mm3) in 80.5% and hyperleukocytosis (WBC > 100 000/mm3) in 14.5% of cases with blasts in peripheral blood in 92% of cases.

[Epidural anesthesia for the repair of the femoral neck fracture in elderly patients].

For the repair of the femoral neck fracture in the elderly patients, an epidural catheter was inserted immediately after injury and epidural anesthesia was employed to allow radical operation as early as possible. The subjects were 45 patients with a mean age of 81.4 years. Surgical procedures were osteosynthesis and replacement of the femoral cap. The preoperative management of pain included insertion of an epidural catheter at the L2-L4 interspace immediately after injury for injection of 0.25% bupivacaine. The catheter was inserted 1.5 days on average after injury, and surgery was undertaken 1.4 days on average after the insertion. The intraoperative management included epidural anesthesia by injection of 1.5% mepivacaine. The mean duration of anesthesia was 150 min, and the total amount of mepivacaine used during the operation averaged 284 mg. For postoperative management, the epidural catheter was retained for 5 days on average to achieve adequate pain relief. The incidence of postoperative complications was relatively low, and the post operative course was also favorable.

Biotinidase deficiency: novel mutations in Algerian patients.

Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated. In the present study, we report the clinical features and the molecular investigation of biotinidase deficiency in four unrelated consanguineous Algerian families including five patients with profound biotinidase deficiency and one child characterized as partial biotinidase deficiency. Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3. Since newborn screening is not available in Algeria, cascade screening in affected families would be very helpful to identify at risk individuals.

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

BACKGROUND: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. OBJECTIVE: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. METHODS: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected individuals: 196 patients classified as MRX and 17 patients with MR and previously detected cerebellar anomalies. RESULTS: Four novel oligophrenin 1 mutations were identified. In the MRX group, two nonsense mutations were detected. In the MR group, two mutations were found: a deletion of exons 16 to 17 and a splice site mutation. All patients shared characteristic clinical, radiologic, and distinctive features with a degree of intrafamilial variability in motor and cognitive deficits. CONCLUSIONS: Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group.