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2022 ◽  
Author(s):  
Amel Chtourou ◽  
Saba Gargouri ◽  
Emna Elleuch ◽  
Lamia Fki-Berrajah ◽  
Fahmi ◽  
...  

Abstract Background/Aims: We aimed to describe spontaneous short-term hepatitis B Virus (HBV) DNA level fluctuations and to assess the usefulness of quantitative HBsAg (qHBsAg) in Tunisian patients with HBeAg-negative chronic HBV infection.Patients and methods: We included 174 treatment-naïve patients with chronic HBeAg-negative HBV. A one-year prospective follow-up was carried out with serial determinations of HBV DNA, alanine aminotransferase levels and qHBsAg. Patients were classified into three groups: inactive carriers (G1), patients with HBeAg negative chronic hepatitis B (CHB) (G2) and patients with indeterminate state (G3). For this latter group, a liver biopsy was indicated.Results: Only genotype D was detected. During the follow-up, 21.6% and 19.5% of patients with low initial (<2000 IU/mL) and intermediate viral load (2000-20000 IU/mL), experienced a subsequent increase in their HBV DNA levels above 2000 and 20000 IU/mL, respectively. Significant variations of HBV DNA levels (≥0.5 log10 IU/mL) were observed in 61.1% of patients at 6 months-interval. Among the 174 patients, 89 (51.1%) belonged to G1, 33 (19%) to G2 and 52 (29.9%) to G3. Fourteen patients have undergone liver biopsy, among whom 7 (50%) showed moderate to severe liver disease. Combination of HBV DNA <2000 IU/mL and qHBsAg <832 IU/mL excluded CHB in 98.4% of cases.Conclusions: This study highlights the large short-term HBV DNA fluctuations in Tunisian patients with HBeAg negative chronic HBV of genotype D. HBV DNA < 2000 IU/mL along with qHBsAg < 832 IU/mL excluded CHB in 98.4% of cases. Significant proportion of patients with indeterminate state within genotype D would have HBeAg negative CHB.


2022 ◽  
Vol 15 (1) ◽  
Author(s):  
Mariem Ennouri ◽  
Andreas D. Zimmer ◽  
Emna Bahloul ◽  
Rim Chaabouni ◽  
Slaheddine Marrakchi ◽  
...  

Abstract Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms. Syndromic ichthyosis is rather a large group of heterogeneous diseases. Overlapping phenotypes and genotypes between these disorders is a major characteristic. Therefore, determining the specific genetic background for each form would be necessary. Methods A total of 11 Tunisian patients with non-syndromic (8 with ARCI and 2 with ILC) and autosomal syndromic ichthyosis (1 patient) were screened by a custom Agilent HaloPlex multi-gene panel and the segregation of causative mutations were analyzed in available family members. Results Clinical and molecular characterization, leading to genotype–phenotype correlation in 11 Tunisian patients was carried out. Overall, we identified 8 mutations in 5 genes. Thus, in patients with ARCI, we identified a novel (c.118T > C in NIPAL4) and 4 already reported mutations (c.534A > C in NIPAL4; c.788G > A and c.1042C > T in TGM1 and c.844C > T in CYP4F22). Yellowish severe keratoderma was found to be associated with NIPAL4 variations and brachydactyly to TGM1 mutations. Two novel variations (c.5898G > C and c.2855A > G in ABCA12) seemed to be features of ILC. Delexon13 in CERS3 was reported in a patient with syndromic ichthyosis. Conclusions Our study further extends the spectrum of mutations involved in ichthyosis as well as clinical features that could help directing genetic investigation.


2021 ◽  
Author(s):  
Amel Chtourou ◽  
Saba Gargouri ◽  
Emna Elleuch ◽  
Awatef Taktak ◽  
Lamia Fki-Berrajah ◽  
...  

Abstract Background/Aims: We aimed to describe spontaneous short-term hepatitis B Virus (HBV) DNA fluctuations and to assess the usefulness of quantitative HBsAg (qHBsAg) in Tunisian patients with HBeAg-negative chronic HBV infection.Methods: We included 174 treatment-naïve patients with chronic HBeAg-negative HBV. A one-year prospective follow-up was carried out with serial determinations of HBV DNA, alanine aminotransferase (ALT) levels and qHBsAg. Patients were classified into three groups: inactive carriers (G1), patients with HBeAg negative CHB (G2) and patients with “indeterminant state” (G3). For this latter group, a liver biopsy was indicated.Results: Genotype D was the only detected. During the follow-up, 21.6% and 19.5% of patients with low initial (<2000 IU/mL) and intermediate viral load (2000-20000 IU/mL), experienced a subsequent increase in their HBV DNA levels above 2000 and 20000 IU/mL, respectively. Significant variations of HBV DNA levels (≥0.5 log10 IU/mL) were observed in 61.1% of patients at 6 months-interval. Among the 174 patients, 89 (51.1%) belonged to G1, 33 (19%) to G2 and 52 (29.9%) to G3. Fourteen patients have undergone liver biopsy, among whom 7 (50%) showed moderate to severe liver disease. Combination of HBV DNA <2000 IU/mL and qHBsAg <832 IU/mL excluded CHB in 98.4% of cases.Conclusions: This study highlights the large short-term HBV DNA fluctuations in Tunisian patients with HBeAg negative chronic HBV of genotype D. HBV DNA < 2000 IU/mL along with qHBsAg < 832 IU/mL excluded CHB in 98.4% of cases. Significant proportion of patients with “indeterminant state” within genotype D would have HBeAg negative CHB.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Latifa Chkioua ◽  
Yessine Amri ◽  
Sahli Chaima ◽  
Ferdawes Fenni ◽  
Hela Boudabous ◽  
...  

An amendment to this paper has been published and can be accessed via a link at the top of the paper.


2021 ◽  
pp. 107815522110482
Author(s):  
Rim Frikha ◽  
Olfa Kassar ◽  
Moez Elloumi ◽  
Hassen Kamoun

Aim This study was carried out to assess the minimal residual disease in Tunisian patients with chronic myeloid leukemia (CML) treated with tyrosine kinase inhibitors in routine clinical practice, to recognize potentially eligible carrier for treatment discontinuation, based on a molecular response (MR). Patients and Methods A retrospective study was carried out in the Hospital University of Sfax, south of Tunisia from January 2016 to October 2020, including all CML patients in the chronic phase at diagnosis, treated with TKI (tyrosine kinase inhibitors) for a minimum duration of 6 months. Quantitative assessment of the BCR-ABL transcript was performed using the Cepheid Xpert BCR-ABL ultra-assay. Molecular response and outcome were evaluated, according to the European Leukemia Net guidelines. Results A total of 162 CML patients were carried out. The median age was 50 years, the sex ratio M/F was 1.62. The rate of cumulative EMR; MMR and DMR was 80.8%; 73.8% and 55.9% respectively. According to the ELN criteria, 141 CML patients were evaluable. Optimal, suboptimal response and failure were noted in 81 (57.4%), 33(23.4%), and 27(19.1%) patients, respectively. Overall survival (OS) and progression-free survival (PFS) were 96.3% and 85%. Risk factors for an event (death/progression) were lack of EMR, MMR, and DMR (P < 0.05). Among 149 patients with sustained DMR; 14 (8.6%) CML patients have discontinued TKI therapy. Conclusion Despite the limit of our study (duration and size), the available real-life molecular responses with TKI therapy should be considered to identify potentially CML patients eligible for discontinuation of TKI therapy.


Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1922
Author(s):  
Khouloud Zayoud ◽  
Ichraf Kraoua ◽  
Asma Chikhaoui ◽  
Nadège Calmels ◽  
Sami Bouchoucha ◽  
...  

Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype. After clinical examination, two patients were investigated via next generation sequencing, targeting seventeen Nucleotide Excision Repair (NER) genes. All three patients harbored a novel, c.3156dup, homozygous mutation located in exon 18 of ERCC6/CSB that affects the C-terminal region of the protein. Sanger sequencing confirmed the mutation and the parental segregation in the three families, and Western blots showed a lack of the full-length protein. NER functional impairment was shown by reduced recovery of RNA synthesis with proficient unscheduled DNA synthesis after UV-C radiations in patient-derived fibroblasts. Despite sharing the same mutation, the clinical spectrum was heterogeneous among the three patients, and only two patients displayed clinical photosensitivity. This novel ERCC6 variant in Tunisian patients suggests a founder effect and has implications for setting-up prenatal diagnosis/genetic counselling in North Africa, where this disease is largely undiagnosed. This study reveals one of the rare cases of CS clinical heterogeneity despite the same mutation. Moreover, the occurrence of an identical homozygous mutation, which either results in clinical photosensitivity or does not, strongly suggests that this classic CS symptom relies on multiple factors.


2021 ◽  
Author(s):  
latifa chkioua ◽  
Yessine Amri ◽  
Chayma Saheli ◽  
Wassila Mili ◽  
Sameh Mabrouk ◽  
...  

Abstract Background: Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine crystals in the cornea observed accidently during a routine ocular examination. The ocular cystinosis is associated with different mutations in CTNS gene. Cysteamine therapy mostly corrects the organ abnormalities. Methods: This study was performed in collaboration with the department of ophthalmology of Farhat Hached Hospital. The Optical Coherence Tomography (OCT) of the cornea and retinal photography were used to search cystine crystals within the corneas and conjunctiva in eight Tunisian patients. Screening for the common 57-kb deletion was performed by standard multiplex PCR, followed by direct sequencing of the entire CTNS gene. Results: The studied patients were found to have cystine crystal limited anterior corneal stroma and the conjunctiva associated with retinal crystals accumulation. CTNS gene sequencing disclosed 7 mutations: three missense mutations (G308R, p.Q88K, and p.S139Y); one duplication (C.829dup), one framshift mutation (p.G258f), one splice site mutation (c.681+7delC) and a large deletion (20327-bp deletion). Crystallographic structure analysis suggests that the novel mutation p.S139Y is buried in a first transmembrane helix closed to the lipid bilayer polar region, introducing a difference in hydrophobicity which could affect the hydrophobic interactions with the membrane lipids. The second novel mutation p.Q88K which is located in the lysosomal lumen close to the lipid membrane polar head region, introduced a basic amino acid in a region which tolerate only uncharged residue. The third missense mutation introduces a positive change in nonpolar tail region of the phospholipid bilayer membrane affecting the folding and stability of the protein in the lipid bilayer. Conclusion: Our data demonstrate that impaired transport of cystine out of lysosomes is the most common, which is obviously associated with the mutations of transmembrane domains of cystinosine resulting from a total loss of its activity.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Makhlouf Yasmine ◽  
Wafa Triki ◽  
Kaouther Maatallah ◽  
Hanene Ferjani ◽  
Dorra Ben Nessib ◽  
...  

Abstract Background Juvenile idiopathic arthritis (JIA) is characterized by a widely variable clinical course and outcome. If uncontrolled, joint damage may occur. In this context, coxitis is a feared complication. The aim of our study was to determine the prevalence and patterns of hip involvement in Tunisian JIA patients. Methods A retrospective study including children with JIA according to the International League of Associations for Rheumatology (ILAR)) was conducted between 2012and 2021. Sociodemographic data as well as disease characteristics were collected. Laboratory markers including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were recorded. Hip involvement was assessed clinical exam and imaging (standard radiograph, ultrasound or magnetic resonance imaging (MRI)). We compared these parameters between the two groups: G1: presence of coxitis and G2: absence of coxitis. Results The study included 40 patients with a male predominance: sex ratio was 1.6. The mean age was 11.1 years-old [3–16]. The mean age at onset of the disease was 18.1 years old [8–30]. The distribution of the different subsets was as follows: polyarticular with rheumatoid factor (n = 1), polyarticular without rheumatoid factor (n = 2), enthesitis-related arthritis (n = 29), oligoarthritis (n = 7), psoriatic arthritis (n = 1). Extra-articular manifestations were found in 21.2% of cases: ocular (n = 4), pulmonary (n = 2) and cardiovascular (n = 1). The mean ESR and CRP was 30.9 mm/h [2–90] and 15.8 mg/l [1–70] respectively. A high ESR or CRP were found in 67% of cases. Hip involvement concerned 70% of the patients and was bilateral in 67.9% of them. Hip radiographs were normal in 50% of cases. Ultrasound was performed in 9 patients and revealed a positive Doppler synovitis (n = 2), a negative Doppler synovitis (n = 7) and joint effusion (n = 2). MRI was performed in 20% of cases and revealed synovitis (67%) and joint effusion (33%). Overall, 79.3% of patients had medical treatment combining NSAIDs and rehabilitation, 39% of the patients had had local infiltration with Hexatrione and only two patients had hip replacement. Hip involvement was not correlated with age at onset (P = 0.2), subtype (P = 0.8), sex (P = 0.7), extraarticular manifestations (P = 0.4). Similarly, there was no correlation between the presence of coxitis and ESR (P = 0.07) as well as CRP (P = 0.5). Conclusion Our study showed that hip involvement is frequent among Tunisian patients with JIA. Although not correlated with disease characteristics, hip involvement should be assessed frequently and carefully.


2021 ◽  
Author(s):  
A Zribi ◽  
S Ben Nasr ◽  
M Ahmad ◽  
S Fendri ◽  
N Mansouri ◽  
...  

Background: Sarcoidosis is a multi-systemic granulomatosis of unknown cause, characterized by a clinical polymorphism. It results from interplay of environmental and genetic factors. Objective: The aim of our study was to describe sociodemographic and genetic characteristics in Tunisian patients with sarcoidosis. Methods: We conducted a retrospective study of patients with sarcoidosis followed in the internal medicine and neurology departments at the Military Hospital of Tunis. We collected epidemiological characteristics. Genetic study concerned only patients who accepted to participate. DNA extraction was performed from whole blood. HLA class II typing and gene mutation testing of the ACE gene were also performed. Results: Our study concerned 50 patients. The mediastino-pulmonary involvement was the most frequent (72.3%), followed by neurological involvement (58.5%), cutaneous involvement (50.8%) and ophthalmological involvement (40%). Genetic analysis showed a high frequency of the HLA DRB1 * 1501 allele (38%), DD genotype (30%) and D allele (54%) of the ACE gene. Treatment with corticosteroids was most often used 73.85%. The evolution was favorable in 13 cases (26.15%), and stable in 63% of cases. Conclusion: sociodemographic and genetic characteristic are variable from one ethnic to another. Advances in genotyping and statistical analysis are helping to elucidate the genetics of sarcoidosis.


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