PubMed | Maamouri Hospital, Mongi Slim hospital and Rabta Hospital
Type: | Journal: The Pan African medical journal | Year: 2016
Treatment of Kienbcks disease has historically been determined by staging, ulnar variance, and presence or absence of arthritic changes. With the advent of newer techniques of vascularized bone grafting, the status of the cartilage shell of the lunate has become another factor that can influence the procedure performed. The purpose of this article is to describe the technique of Kuhlmann vascularized bone graft for Kienbcks disease. In addition, the indications, contraindications, and outcomes are described.
Euch-Fayache G.E.,Mongi Ben Hamida National Institute of Neurology |
Bouhlal Y.,University of California at San Francisco |
Amouri R.,Mongi Ben Hamida National Institute of Neurology |
Feki M.,Rabta Hospital |
Hentati F.,Mongi Ben Hamida National Institute of Neurology
Brain | Year: 2014
Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. The majority of cases originated in the Mediterranean region, and the 744delA was the most common mutation among the 22 mutants previously described. We examined the clinical and molecular features of a large cohort of 132 Tunisian patients affected with ataxia with vitamin E deficiency. Of these patients, nerve conduction studies were performed on 45, and nerve biopsy was performed on 13. Serum vitamin E was dramatically reduced for 105 of the patients analysed. Molecular analysis revealed that 91.7% of the patients (n = 121) were homozygous for the 744delA mutation. Three other mutations were detected among the remaining patients (8.3%, n = 11) in the homozygous state. Two were previously reported (400C>T and 205-1G>T), and one was novel (553+1T>A). Age of onset was 13.2 ± 5.9 years, with extremes of 2 and 37 years. All described patients exhibited persistent progressive cerebellar ataxia with generally absent tendon reflexes. Deep sensory disturbances, pyramidal syndrome and skeletal deformities were frequent. Head tremor was present in 40% of the patients. Absence of neuropathy or mild peripheral neuropathy was noted in more than half of the cohort. This is the largest study of the genetic, clinical and peripheral neuropathic characteristics in patients with ataxia and vitamin E deficiency. The 744delA mutation represents the most common pathological mutation in Tunisia and worldwide, likely because of a Mediterranean founder effect. Our study led us to suggest that any patient displaying an autosomal recessive cerebellar ataxia phenotype with absent tendon reflexes and minor nerve abnormalities should first be screened for the 744delA mutation, even in the absence of a serum vitamin E measurement. © 2013 The Author (2013).
Sethom M.M.,Rabta Hospital |
Fares S.,Rabta Hospital |
Bouaziz N.,Razi Hospital |
Melki W.,Razi Hospital |
And 4 more authors.
Prostaglandins Leukotrienes and Essential Fatty Acids | Year: 2010
The study was aimed to examine membrane polyunsaturated fatty acids (PUFAs) profile in patients with schizophrenia (SZ) before and after antipsychotic medication and test their association with psychopathology. Erythrocyte membrane fatty acids were analysed by gas chromatography in 36 drug-free patients with SZ and 36 controls. Psychometric evaluation and blood sampling were achieved at baseline and after 3 months of antipsychotic treatment. At enrolment, levels of total PUFAs and arachidonic (AA) and docosahexaenoic (DHA) acids were significantly lower, but ω6/ω3 PUFAs ratio was higher in patients. AA and DHA were negatively related to the Andreason's scale for assessment of negative symptoms (SANS) score. DHA was inversely related to "alogia", "anhedonia", "avolition", and "blunted affect" subitems of SANS. After 3 months under typical antipsychotic drugs, fatty acid profile turned into comparable to controls in parallel with psychopathology improvement. Data indicate that PUFAs deficits are associated with psychotic state and negative symptoms of SZ. © 2010 Elsevier Ltd.
PubMed | Rabta Hospital and Tunisian Research Laboratory Sport Performance Optimization
Type: | Journal: The Libyan journal of medicine | Year: 2016
Vitamin D inadequacy is widespread in children and adolescents worldwide. The present study was undertaken to assess the vitamin D status in active children living in a sunny climate and to identify the main determinants of the serum concentration of 25-hydroxyvitamin D (25-OHD).This cross-sectional study included 225 children aged 7-15 years practicing sports in a football academy. Anthropometric measures were performed to calculate body mass index (BMI), fat mass, and maturity status. A nutritional enquiry was performed including 3-day food records and food frequency questionnaire. Plasma 25-OHD and insulin were assessed by immunoenzymatic methods ensuring categorization of vitamin D status and calculation of insulin sensitivity/resistance indexes. A logistic regression model was applied to identify predictors for vitamin D inadequacy.Vitamin D deficiency (25-OHD<12 g/L) was observed in 40.9% of children and insufficiency (12<25-OHD<20 g/L) was observed in 44% of children. In a multivariate analysis, vitamin D deficiency and insufficiency were associated with a lower dietary intake of vitamin D, proteins, milk, red meat, fish, and eggs. However, no significant relationship was observed with maturation status, adiposity, or insulin resistance.Tunisian children and adolescents are exposed to a high risk of vitamin D inadequacy despite living in a sunny climate. Circulating 25-OHD concentrations are related to the intake of vitamin D food sources but not to maturation status or body composition. Ensuring sufficient and safe sun exposure and adequate vitamin D intake may prevent vitamin D inadequacy in children from sunny environments.
PubMed | Charles Nicolle Hospital, Bechir Hamza Children Hospital and Rabta Hospital
Type: Case Reports | Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | Year: 2016
Bloom syndrome is a rare disease characterized by chromosomal instability and increased risk of developing lymphoma.We report on a case of Bloom syndrome in a 5-year-old boy with Burkitt lymphoma. The diagnosis was suspected by growth retardation, repeated respiratory infections, facial telangiectasia, and a low immunoglobulin level, then confirmed cytogenetically by sister chromatid exchanges. Chemotherapy was poorly tolerated, which required reducing the doses. Unfortunately, it was not sufficient to control the neoplasm and the patient died 14 months after diagnosis.Cancers in Bloom syndrome are a challenge since the potentially life-threatening side effects of the chemotherapy may require modifications in standard treatment such as dose reduction, which can compromise the tumor prognosis.
Nasrallah F.,Rabta Hospital |
Feki M.,Rabta Hospital |
Briand G.,Laboratory of Biochemistry |
Kaabachi N.,Rabta Hospital
Clinical Biochemistry | Year: 2010
Objectives: To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the diagnosis of the organic acidurias in the clinical biochemistry laboratories. Material and methods: Guanidinoacetic acid, creatine standard solutions and pooled urines and pathological samples were used to validate a new and simple GC/MS technique modified from reported methods; its accuracy was assessed by comparing with liquid chromatography-electrospray tandem mass spectrometry (HPLC-MS/MS) method. Results: The method is precise: intra assay and inter assay variability for low and high concentrations were 3%, 6.4%/1.4%, 6.9% for creatine and 1.4%, 6.4%/0.9%, 6.9% for guanidinoacetoacetate. Agreement with HPLC/MS-MS method is good. Conclusion: The GC/MS modified method is fast, reliable and practical for the diagnosis of CDS using the same means as those for organic acidurias diagnosis. © 2010 The Canadian Society of Clinical Chemists.
Hadj-Taieb S.,Rabta Hospital
La Tunisie médicale | Year: 2012
Inborn errors of metabolism are neglected in developing countries because they are not as common as infectious and nutritional disorders. In Tunisia, no information is available on the incidence and epidemiological features of these inherited metabolic diseases. To precise the profile of aminoacidopathies other than phenylketonuria and organic acidurias and to estimate their incidences in Tunisia. Between 1987 and 2009, our laboratory received 13171 requests for analysis of patients with symptoms suggestive of inborn errors of metabolism. For these cases, ion exchange chromatography of free amino acids was performed on amino acids analyser. Urinary organic acids profiles were determined by gas chromatography-mass spectrometry. Abnormal cases were 370 (2.8%), divided into 212 cases of aminoacidopathies (57.3%) and 158 cases of organic acidurias (42.7%). The most frequent aminoacidopathies, were maple syrup disease (32.5%), tyrosinemia type I (28.8%) and nonketotic hyperglycinemia (16%). Methylmalonic aciduria (33.5%), propionic aciduria (18.4%) and 2-hyrdoxy glutaric aciduria (10.8%) were the most frequent organic acidurias. The incidences were calculated using the Hardy-Weinberg formula and were estimated at 1/13716 for maple syrup disease, 1/14804 for tyrosinemia type I, 1/16144 for methylmalonic aciduria and 1/23176 for propionic aciduria. Aminoacidopathies and organic acidurias turned out to be highly frequent in Tunisia, mainly because of a high rate of consanguinity. We believe that they are underestimated. To improve their diagnosis, it is necessary to have available sophisticated equipment which would allow early treatment of patients.
Tangour M.,Rabta Hospital |
Chelly I.,Rabta Hospital |
Haouet S.,Rabta Hospital |
Zitouna M.,Rabta Hospital |
Kchir N.,Rabta Hospital
Journal of Cutaneous Pathology | Year: 2011
Synchronous occurrence of lymphomatous proliferations of B and T lineage in the same patient is a very rare event and still poorly understood. All the cases reported in the English language literature are described as single case reports. We report a case of 49-year-old man, with 2-year history of multiple myeloma, presented with a raised, erythematous and ulcerated nodule in the anterior aspect of his right thigh. Histologic examination of biopsy specimen showed a dense dermic infiltrate made of large balastic cells displaying anaplastic morphology with no epidermotropism. Immunohistochemical study showed that tumor cells stained positive with CD30, EMA and CD4, and negative for CD3, CD8, CD5, CD20, CD79a, CD138 and anaplastic lymphoma kinase 1 (ALK or Ki-1). Copyright © 2009 John Wiley & Sons A/S.
Nasrallah F.,Rabta Hospital |
Feki M.,Rabta Hospital |
Kaabachi N.,Rabta Hospital
Pediatric Neurology | Year: 2010
Creatine deficiency syndromes, which have only recently been described, represent a group of inborn errors of creatine synthesis (l-arginine-glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency) and transport (creatine transporter deficiency). Patients with creatine deficiency syndromes present with mental retardation expressive speech and language delay, and epilepsy. Patients with guanidinoacetate methyltransferase deficiency or creatine transporter deficiency may exhibit autistic behavior. The common denominator of these disorders is the depletion of the brain creatine pool, as demonstrated by in vivo proton magnetic resonance spectroscopy. For diagnosis, laboratory investigations start with analysis of guanidinoacetate, creatine, and creatinine in plasma and urine. Based on these findings, enzyme assays or DNA mutation analysis may be performed. The creatine deficiency syndromes are underdiagnosed, so the possibility should be considered in all children affected by unexplained mental retardation, seizures, and speech delay. Guanidinoacetate methyltransferase deficiency and arginine-glycine amidinotransferase deficiency are treatable by oral creatine supplementation, but patients with creatine transporter deficiency do not respond to this type of treatment. © 2010 Elsevier Inc. All rights reserved.
PubMed | Charles Nicolle Hospital and Rabta Hospital
Type: Journal Article | Journal: Dermatology practical & conceptual | Year: 2016
IgA pemphigus is a rare autoimmune vesiculo-pustular skin disease. Only approximately 70 cases have been reported to date. We report a case of IgA pemphigus with IgA antibodies to desmoglein 1 (Dsg1) and desmoglein 3 (Dsg3).We report the case of an 60-year-old man with intraepidermal neutrophilic IgA pemphigus with IgA antibodies to Dsg1 and Dsg3. Histologic examination revealed subcorneal neutrophilic pustules with few acantholytic cells. The disease was not effectively controlled by conventional therapeutic regimens (colchicine, dapsone). Systemic treatment with isotretinoin 25 mg/d and prednisone 20 mg/d achieved only a slight effect after six months.Our case confirmed the recalcitrant nature of IgA pemphigus in response to distinct therapies, indicating that further research focusing on therapeutic approaches for this type of pemphigus is needed. Physicians should keep IgA pemphigus in mind when approaching patients with bullous eruption.