Associations of common SNPs in the SORT1, GCKR,LPL, APOA1, CETP,LDLR, APOE genes with lipid trait levels in an Algerian population sample

Genome-wide association studies have identified many lipid-associated loci primarily in European and Asian populations. In view of the differences between ethnic groups in terms of the frequency and impact of these variants, our objective was to evaluate the relationships between eight lipid-associated variants (considered individually and in combination) and fasting serum triglyceride, total cholesterol, HDL- and LDL-cholesterol levels in an Algerian population sample (ISOR study, n = 751). Three SNPs (in SORT1, CETP and GCKR) were individually associated with lipid level variations. Moreover, the risk allele scores for total cholesterol, triglyceride and LDL-C levels (encompassing between three and six SNPs) were associated with their corresponding lipid traits. Our study is the first to show that some of the lipid-associated loci in European populations are associated with lipid traits in Algerians. Although our results will have to be confirmed in other North African populations, this study contributes to a better understanding of genetic susceptibility to lipid traits in Algeria.     

Solitary pancreatic metastasis from squamous cell lung carcinoma: A case report and review of literature

BACKGROUNDPancreatic metastases from squamous cell lung carcinoma (SCLC) are unusual. These lesions are often asymptomatic and detected incidentally or during follow-up investigations, occasionally several years after removal of the primary tumor.CASE SUMMARYA 56-year-old male with SCLC developed jaundice 1 mo after the cancer diagnosis. An abdominal computed tomography (CT) scan showed a mass in the pancreatic head with distention of both intra- and extrahepatic biliary ducts. Endoscopic retrograde cholangiopancreatography and sphincterotomy were performed first, culminating with plastic biliary stent placement. Cytological examination of the pancreatic mass sample collected by fine-needle aspiration (FNA) under endoscopic ultrasound (EUS) guidance revealed the presence of malignant cells compatible with well-differentiated squamous cell carcinoma. After liver function normalized, chemotherapy was initiated with carboplatin and paclitaxel; however, 4 d later, the patient presented dysphagia. Cervico-thoraco-abdominal CT showed tracheoesophageal fistula and stent migration. After replacement with a 10 cm/10 mm uncovered metallic biliary stent and treatment of the tracheoesophageal fistula with a fully covered esophageal stent, the patient was able to start oral feeding progressively. He died 9 mo after the initial diagnosis.CONCLUSIONThe diagnosis of pancreatic metastasis from SCLC is challenging for clinicians. EUS-FNA is the primary exam for confirmatory diagnosis.     

Increased glucose excursion in cystic fibrosis and its association with a worse clinical status

BACKGROUND: Abnormal glucose tolerance is a frequent co-morbidity in cystic fibrosis patients (CF), and is associated with a worse prognosis. The objectives are to investigate (a) the relative contribution of insulinopenia and insulin resistance (IR) for glucose tolerance and (b) the association between various glucose parameters and CF clinical status. METHODS: Oral glucose tolerance tests were performed in 114 consecutive CF patients not known to be diabetic as well as 14 controls similar for age and BMI. RESULTS: Abnormal glucose tolerance was found in 40% of patients with CF: 28% had impaired glucose tolerance (IGT) and 12% had new cystic fibrosis related diabetes (CFRD). Compared to control subjects, all CF patients were characterized by an increased glucose excursion (AUC). While reduced early insulin release characterised CF, IGT and CFRD patients also present IR thus both mechanisms significantly contribute to glucose tolerance abnormalities. Increased glucose AUC and reduced early insulin release but not glucose tolerance categories were associated with a reduced pulmonary function (FEV(1)). CONCLUSION: In CF, early insulin secretion defect but also IR contribute to glucose intolerance. Early in the course of the disease, increased glucose AUC and reduced early insulin secretion are more closely associated with a worse clinical status than conventional glucose tolerance categories.     

Psychometric evaluation of a Moroccan version of health assessment questionnaire for use in Moroccan patients with rheumatoid arthritis

Objective of the study is to test the reliability and validity of a translated version of health assessment questionnaire (HAQ) on Moroccan patients with rheumatoid arthritis (RA). We led a prospective study from July 2004 to September 2005. A total of 100 Moroccan patients were recruited. After translation to dialect Arabic, back translation, expert committee review and pretesting of the questionnaire, it was administered to the selected patients and tested for construct validity, reliability and internal consistency. The construct validity was evaluated by correlating the yield of the questionnaire with other disease activity and severity parameters. The questionnaire was administered again after a time interval of between 2 and 10 days for evaluation of the reliability of this test. All the items were tested for their loyalty to the principal component. The adapted questionnaire showed a good internal consistency. Cronbach's alpha test was 0.994. The test-retest showed a strong reliability with a kappa test ranging from 0.70 to 0.92 for all domains. Intraclass correlation coefficient for the total score was 0.987. The Moroccan HAQ showed a strong validity. It correlates significantly with disease activity and severity parameters. The unidimentionality has been demonstrated. About 71.5% of all variabilities was accounted for by the first principal component. The Moroccan Arabic dialect version of HAQ is a reliable and valid instrument that can be self-administered by Moroccan RA patients to assess their functional disability.     

Genotypic Correlation Between Six Common β-Thalassemia Mutations and the XmnI Polymorphism in the Moroccan Population

β-Thalassemia (thal) is the most common recessive inherited disorder in Mediterranean populations. It is estimated that the frequency of this disease in the Moroccan population is between 1.5 and 3.0%. Severe forms of homozygous thalassemia cases require expensive and technically demanding curative (bone marrow transplantation) or palliative (chronic transfusion/chelation) therapies. The ?158 (C→T) polymorphism of the ^Gγ-globin gene (XmnI polymorphism) is known to ameliorate the severity of the disease because of it strong association with an increased production of fetal hemoglobin (Hb F). Among the many known mutations in Morocco, six are common [codon 39 (C→T), frameshift codon (FSC) 8 (?AA), IVS-II-745 (C→G), FSC 6 (?A), ?29 (A→G) and IVS-I-1 (G→A)]. In this study, we have investigated, in 82 Moroccan β-thalassemic chromosomes, the correlation between the six common mutations and the XmnI polymorphism using the Fisher exact test. The XmnI polymorphism was divided into two categories, (XmnI [+] and XmnI [?]) and the six common Moroccan mutations into two groups (group I with FSC 8 and group II without FSC 8). Correlation was carried out between the XmnI [+] category and the six common mutations individually that showed that 68% of chromosomes in the XmnI [+] category had the FSC 8 (?AA) mutation. The results reported here show that there is a positive correlation between the XmnI polymorphism and FSC 8 mutation in linkage with haplotype IV [? + ? + + ? +] (p <10^?5). In conclusion, molecular determination of genetic markers in early childhood will help to identify candidates for pharmacological Hb F switching by hydroxyurea (HU). In the Moroccan population, a good response to HU treatment should be suspected in cases with the ?158 (C→T) polymorphism in linkage with haplotype IV and internal β-globin gene framework 3.     

The Rare Codon 24 (T>A) (β+) Mutation in Association with the Common Codon 39 (C> T) (β0) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient

We present the rare codon 24 (T?>?A) (β⁺) mutation causing transfusion-dependent β-thalassemia (β-thal) in combination with the common codon 39 (C?>?T) (β⁰) defect in a Moroccan boy. We report the characterization of the mutation, phenotype, haplotype and possible origin of the first case in Morocco and discuss the significance of this genotype combination with a β⁰ defect.     

Giant aneurysmal bone cyst of the scapula: A case report

Aneurysmal bone cyst (ABC) is a benign bone tumor affecting mainly children and young adults. It occurs in the metaphysis of the long bones. The scapula is a very rare location. Imaging may be highly suggestive of ABC in cases of an osteolytic, expansive, and hemorrhagic lesion with fluid-fluid levels and thin septa. The diagnosis must systematically be confirmed by performing a biopsy, in order to adopt the best therapeutic strategy. There are several therapeutic means, but wide resection remains the gold standard. The evolution is very variable and can go from spontaneous healing to recurrence with the destruction of the bone. We report a rare case of aneurysmal bone cyst of the scapula in a young patient.