Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.

Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high degree of clinical variability even though within the same family. This study aims to describe three cases, belonging to a consanguineous Tunisian family, sharing a new splicing mutation in the dysferlin gene and presenting intra-familial variability of dysferlinopathies: Proximal-distal weakness and distal myopathy with anterior tibial onset. We performed the next generation sequencing for mutation screening and reverse transcriptase-PCR for gene expression analysis. Routine muscle histology was used for muscle biopsy processing. The clinical presentation demonstrated heterogeneous phenotypes between the three cases: Two presented intermediate phenotypes of dysferlinopathy with proximal-distal weakness and the third had a distal myopathy with anterior tibial onset. Genetic analysis yielded a homozygous splicing mutation (c.4597-2A>G) in the dysferlin gene, giving rise to the suppression of 28 bp of the exon 43. The splicing mutation found in our family (c.4597-2A>G) is responsible for the suppression of 28 bp of the exon 43 and a wide clinical intra-familial variability.

Traumatic uterine rupture: A rare complication of vehicle accidents.

The rupture of the gravid uterus is a rare complication of trauma. It is reported in less than one percent of pregnant women who are victims of road accidents. The authors report the case of a 26-year-old nulliparous patient presented with a uterine rupture resulting in fetal death at 32 weeks of gestation following a nonpenetrating abdominal trauma in a road traffic accident. An extreme emergency operation and abdominal laparotomy confirmed the imaging findings and led to conservative treatment of the uterus and a splenectomy.

Clinical characteristics and prognosis of traumatic head injury following road traffic accidents admitted in ICU "analysis of 694 cases".

BACKGROUND: The aim of the present study is to analyze the clinical and epidemiological characteristics of Traumatic Brain Injury (TBI) following Road Traffic Accidents (RTAs). Moreover, we aim to evaluate the outcome of the TBI victims referred to our medico-surgical Intensive Care Unit (ICU), and to define predictive factors associated with poor prognosis. METHODS: A retrospective study over a 4-year period (2009 to 2012) of 694 patients with head injuries, incurred during road traffic accidents, admitted to the Intensive Care Unit (ICU) of a university hospital (Sfax-Tunisia). Basic demographic, clinical, biological, and radiological data were recorded on admission and during the ICU stay. RESULTS: There were 592 males (85.3%), and 102 female patients. The mean age was at 31.8 ± 17.8 years (range 1-91). The mechanism of the accident was detailed in 666 patients (96%). The majority of the victims were motorcycle riders and/or passengers (40.5%), followed by pedestrians (29.1%). Extra-cranial pathology was present in 452 patients (65%). A total of 677 patients (97.6%) required intubation, mechanical ventilation, and sedation. Mean ICU stay was 16 ± 17.4 days. A total of 187 patients (26.9%) died during their hospital stay. The GOS performed within a mean delay of 6 months after hospital discharge was as follows: 198 deaths (28.5%), 13 vegetative state (1.9%), and 349 (50.3%) good recovery and/or moderate disability. A multivariate analysis showed that the factors which correlated with a poor prognosis (mortality and severe disability) were: age > 38 years, Glasgow coma scale score < 8, subdural hematoma, and development of secondary systemic insults (respiratory, circulatory, and metabolic). CONCLUSION: In Tunisia, traumatic brain injury due to RTAs is a frequent cause of ICU admission, especially among young adults, and is associated with high mortality and morbidity rates. The majority of the victims were motorcycle riders and/or passengers and pedestrians. The factors associated with a poor outcome were: age > 38 years, Glasgow Coma Scale score < 8, subdural hematoma, and development of secondary systemic insults (respiratory, circulatory, and metabolic). As a consequence, prevention is highly warranted.

Posterior reversible encephalopathy syndrome in leukemic children: a sensitive issue.

Posterior reversible encephalopathy syndrome (PRES) is an acute central nervous system disorder characterized by reversible brain vasogenic edema. We report here a new case of a nine-year-old boy with B-cell acute lymphoblastic leukemia (B-ALL) who developed PRES secondary to induction chemotherapy including dexamethasone (dexamethasone®), vincristine (oncovin(®)), daunorubicin (adriblastine(®)) and intrathecal injection. Cerebral magnetic resonance imaging (MRI) showed high signal intensity on T2 at cortical and sub cortical region of parieto-frontal and parieto-occipital lobes. The patient was put under sodium valproate (depakine(®)) and we decided to continue dexamethasone (dexamethasone(®)) and daunorubicin (adriblastine(®)) injection. The MRI, after four weeks, was normal. So, we resumed vincristine (oncovin(®)) and we started L-asparaginase injections. Then, the outcome was favorable. The treatment of PRES is based on the withdrawal of the triggering factor to avoid the risk of irreversible lesions. But, due to the severity of leukemia the discontinuation of chemotherapy is difficult because of the risk of disease progression.