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Yosra Zaimi,1 Myriam Ayari,1 Asma Mensi,1 Linda Bel Hadj Kacem,2 Leila Achouri,3 Meriem Bouzrara,4 Yosra Said,1 Leila Mouelhi,1 Radhouane Debbeche1 1Department of Gastroenterology, Charles Nicolle Hospital, Tunis, Tunisia; 2Department of Pathology, Charles Nicolle Hospital, Tunis, Tunisia; 3Department of Oncologic Surgery, University of Tunis El Manar, Tunis, Tunisia; 4Department of Radiology, Charles Nicolle Hospital, Tunis, TunisiaCorrespondence: Myriam AyariDepartment of Gastroenterology, Charles Nicolle Hospital, Boulevard 9 Avril 1938 Bab Saâdoun, Tunis, 1006, TunisiaEmail ayari.myriam@hotmail.frAbstract: H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs’ syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs’ syndrome.Keywords: H syndrome, SLC29A3 gene, rare disease, pseudo-Meigs’ syndrome, Tunisian patient

We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β+mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [− − − − + + +] β haplotype and framework 1 (CCGCT) (FW1). This mutation was previously reported in the heterozygous state in association with the codon 9 (+TA) mutation in a β-TI patient originating from Tunisia. To the best of our knowledge, this is the first report describing this mutation in the homozygous state. The case reported here, coinherited Gilbert’s syndrome, which is characterized by hyperbilirubinemia. This conclusion was reached by the investigation of the promoter region [A(TA)nTAA] motif of theUGT1A1gene, showing the (TA)6/(TA)7genotype. [ABSTRACT FROM AUTHOR]

Background: Vitiligo is an important skin disease that can alter individual self-image and thus have major impact on the quality of life. Aims: The objective of this study was to translate and to test the reliability and validity of the 10-item Dermatology Life Quality Index (DLQI) questionnaire in Tunisian vitiliginous patients. Methods: Using a standard "forward-backward" translation procedure, the English language version of the questionnaire was translated into Persian (the Iranian official language) by two bilinguals. Seventy patients with vitiligo attending the Department of Dermatology, Regional Hospital, Medenine, Tunisia, were enrolled in this study. The reliability and internal consistency of the questionnaire were assessed by Cronbach′s “ coefficient and Spearman′s correlation, respectively. Validity was performed using convergent validity. Results: In all, 70 people entered into the study. The mean age of respondents was 28.3 (SD=11.09) years. Scores on the DLQI ranged from 0 to 24 (mean±SD, 7.05±5 .13). Reliability analysis showed satisfactory result (Cronbach′s “ coefficient=0.77). There were no statistically significant differences between daily activity (DA) and personal relationship (PR) scale mean scores in generalized versus focal-segmental involvement in sufferers ( P=0.056, P=0.053, respectively). There were also strong differences between the mean scores of the PR scale with the involvement of covered only and covered/uncovered areas ( P =0.016) that was statistically significant in the second group. Conclusions: The study findings showed that the Tunisian version of the DLQI questionnaire has a good structural characteristic and is a reliable and valid instrument that can be used for measuring the effects of vitiligo on quality of life.

Aim and Objective: Parkinson's disease (PD) is the second most common neurodegenerative disease. It is a multifactorial disorder (caused by aging, environmental, and genetic factors). Metabolomics can help explore the biomarker profiles for aging. Recent studies showed an association between the glutathione S-transferases (GSTs) polymorphisms and PD risk. The purpose of this study was to evaluate the association of this genetic polymorphism and the metabolomic profile in PD Tunisian patients, in order to identify effective biomarkers in the genetic differentiation., Materials and Methods: In this study, the metabolomic profile changes related to GSTs polymorphism were searched in 54 Tunisian PD patients treated with L-dopa, using a gas chromatography-mass spectrometry (GC-MS) technique., Results: The study results showed that mannose, methyl stearate, and three other unknown metabolites, increased in patients with GSTM1 positive genotype, while glycolic acid, porphine, monomethyl phosphate, fumaric acid, and three other unknown metabolites decreased in patients with GSTM1 positive genotype. Subsequently, the levels of glycolic acid, erythronic acid, lactic acid, citric acid, fructose, stearic acid, 2-amino-2-methyl-1,3-propanediol and three other unknown metabolites increased in patients with GSTM1 positive genotype, while the levels of proline, valine and two unknown metabolites decreased with GSTT1 positive genotype., Conclusion: All these altered metabolites are related to energy metabolism and it can be concluded that GSTs polymorphism based the shifting in energy metabolism and led to oxidative stress., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The frequencies of mutations vary according to the ethnic origin of populations. We describe in this study a patient with cystic fibrosis. She was homozygous for a new nonsense mutation identified for the first time in Tunisia: W19X, which expected to cause significant morbidity. This mutation appears to be specific to Tunisian population, although, it has identified only in CF Tunisian patients. The information provided by our study contributes to defining the molecular spectrum of CF in Tunisia, to improve genetic testing and prenatal diagnosis.