Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

Background and PurposeWarburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20. Here we present the clinical and genetic characterization of a consanguineous Tunisian family with a WARBM phenotype presenting two pathogenic variations, one of which is on RAB3GAP1.MethodsWe applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype.ResultsWe reveal a new variation in RAB3GAP1 ({"type":"entrez-nucleotide","attrs":{"text":"NM_012233.3","term_id":"1677500243"}}NM_012233.3: c.297del, p.Gln99fs) and another variation in ABCD1 ({"type":"entrez-nucleotide","attrs":{"text":"NM_000033","term_id":"1519313321"}}NM_000033: c.896A>G, p.His299Arg). Each of these mutations, which in silico predictions concluded as being pathogenic variations, affects a critical protein region. Both affected males presented a WARBM-compatible phenotype, with severe intellectual disability, severe developmental delay, postnatal growth delay, postnatal microcephaly, congenital bilateral cataracts, general hypotonia, and a thin corpus callosum without a splenium. However, intrafamilial clinical heterogeneity was present, since only the oldest child had large ears, microphthalmia, foot deformities, and a genital anomaly, and only the youngest child had microcornea. Despite the mutation identified in ABCD1, our patients did not have any X-linked symptoms of adrenoleukodystrophy disorder that are usually caused by ABCD1 mutations, which prompted our interest in clinical monitoring.ConclusionsWES analysis of a consanguineous Tunisian family with WARBM revealed a novel variation in RAB3GAP1 ({"type":"entrez-nucleotide","attrs":{"text":"NM_012233.3","term_id":"1677500243"}}NM_012233.3: c.297del, p.Gln99fs) that is most likely pathogenic and allowed us to confirm the diagnosis of WARBM.     

Radiological features of Adenomatoid odontogenic tumor: Report of a maxillary case and a mandibular one

We present two cases of AOT, the first case concerns a 23‐year‐old patient with an AOT located in the maxilla and the second case involves a 37‐year‐old patient presenting an AOT with mandibular localization.     

Long-term predictors of death among Tunisian patients presenting fornon ST-elevation acute coronary syndrome

Background. Coronary artery disease is the leading cause of death in emerging countries. Contemporary data about clinical profile and prognosis in Tunisian patients presenting for non ST-elevation acute coronary syndrome (NSTE-ACS) are lacking. Aim. We sought to study the risk profile and 3-year mortality predictors in Tunisian patients presenting for NSTE-ACS in the contemporary setting. Methods. In this single center study, data about all consecutive patients presenting to our center for NSTE-ACS from April 2014 to July 2016 were extracted and outcomes exhaustively updated. 3-year mortality predictors were determined by multivariable survival analysis. Results. A total of 340 patients were included, of which 204 (61.8%) were male. Mean age was 63.6 ± 10.3 years. Prevalence of diabetes mellitus, hypertension and smoking was 57.3%, 62.4%, and 45.3%, respectively. In-hospital, 6, 12 and 36-month mortality rate was 2.3%, 3.2%, 7.1% and 15.2%, respectively. In multivariable survival analysis, independent predictors of death were age >75 (HR=5.45, 95% CI: 2.9-10.03, p<0.001), ST-segment deviation (HR=1.86, 95% CI: 1.04-3.33, p=0.036), anemia (HR=2.56, 95% CI: 1.41-4.67, p=0.002), left ventricular ejection fraction (LVEF) <40% (HR=3.5, 95% CI: 1.84-6.67, p<0.001) and a Global Registry of Acute Coronary Events (GRACE) score ≥140 (HR=2.38, 95% CI: 1.02-5.57, p=0.044) Conclusion. In Tunisian patients presenting for NSTE-ACS, long-term mortality was high. Advanced age, ST-segment deviation, anemia, LVEF <40% and a GRACE score ≥140 were independent long-term predictors of death.     

Congenital diaphragmatic hernias in the adult: report of six cases

The anterior hernia or the fissure of Larrey and Bochdalek hernia are exceptional in adult. We present 6 cases of congenital diaphragmatic hernia revealed in adult. Three hernia of the fissure of Larrey and three Bochdalek hernia. We discuss the different clinical, radiological, and therapeutic aspects of these hernia. We insist on the gravity of strangulated hernia and their surgical treatment.     

Mammography screening of breast cancer in Tunisia. Results of first experience]

This article reports the results of a mammography screening program of breast cancer, realized in the department of Radiology, Charles Nicolle hospital. A free screening mammography with two incidences was offered to women aged from 40 to 70 years old. 2200 mammographies were realized from May 1995 till July 1997. Women having a positive test benefited of a diagnostic explorations in the same unity. The positive test rate was 24%. Predictive positive value was 31%. This program allowed to detect 10 subclinical cancers, corresponding to a rate of detection of 4.5 cancers for 1000 women. This program is a first experience which demonstrated the feasibility of the mammography screening to wide scale and allowed the medical and paramedical team to acquire an experience.     

Scaphoid fracture associated with distal radius fracture in children:a case report

Te forearm distal bone fracture is the most com-mon fracture in children. Scaphoid frac-ture is rare because the scaphoid is largely car-tilaginous in children. Some cases associating both distal radius and scaphoid fractures were reported in the literature. Scaphoid fracture often occurs without displacement and can be easily overlooked. We re-ported a case of children wrist injury combining scaphoid fracture with ipsilateral distal fracture.     

Clinical experience with the mini-extracorporeal circulation system: an evolution or a revolution?

PURPOSE: We studied a cohort of 150 patients operated on with a new cardiopulmonary bypass (CPB) system. This is the mini-extracorporeal circulation (MECC) system. DESCRIPTION: The MECC is a fully heparin coated closed-loop CPB system that includes a centrifugal pump and has a priming volume of 450 mL. Between March 2001 and September 2002, 150 consecutive patients were operated on using the mini-CPB (MECC) method. This includes 105 coronary artery bypass graft and 45 aortic valve replacement patients. The median age was 66.7 +/- 10.7 years with a gender ratio of 3.27 males to 1 female. EVALUATION: The 30-day operative mortality was 1.3%. The hemoglobin concentration was stable and perioperative transfusion was needed in only 6% of all patients. The renal and neuropsychiatric complications were less than 1%. CONCLUSIONS: In our experience, the MECC system is a reliable new concept for CPB with good clinical results.     

Effect of triple antiretroviral therapy on Tunisian AIDS profile: study of 139 cases

We report a retrospective study to estimate highly active antiretroviral therapy (HAART) effect in 139 HIV infected patients. Four criteria are studied: prevalence of opportunistic infections, CD4 cell count evolution, viral load progression and mortality. Gastrointestinal side effects are the most common clinical adverse reaction (61.1 percent), and hematological side effects are the most common biological adverse reaction (61.2 percent). During the 22.8 months (3 months to 6 years) follow-up average period, CD4 cell counts remained above 500 per cubic millimeter in only 25.8 percent of cases, while 63.5 percent of patients had a viral load below 400 copies per milliliter. During the study on patients receiving HAART, opportunistic infections appeared in 17.3 percent of cases (24 cases) and mortality in 6.4 percent of cases.