Identification of a Variant in Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families.

Familial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder characterized by reduced plasma levels of low-density lipoprotein cholesterol and apolipoprotein B. To our knowledge, no study on FHBL in Lebanon and the Middle East region has been reported. Therefore, we conducted genetic studies in unrelated families and probands of Lebanese origin presenting with FHBL, in order to identify the causes of this disease.

Vitamin D3 Dose Requirement That Raises 25-Hydroxyvitamin D to Desirable Level in Overweight and Obese Elderly.

Context: Guidelines for the dosage of vitamin D supplementation vary widely globally.

Objective: To investigate the impact of 2 vitamin D doses, bracketed between the IOM recommended dietary allowance (RDA) and the upper tolerable limit, on vitamin D nutritional status in elderly individuals.

Methods: This post hoc analysis of data collected from a 12-month, double-blind, randomized control trial included 221 ambulatory participants (≥ 65 years) with a mean BMI of 30.

Total, Bioavailable, and Free 25(OH)D Relationship with Indices of Bone Health in Elderly: A Randomized Controlled Trial.

Context: Questions regarding the superiority of free and bioavailable 25-hydroxyvitamin D [25(OH)D] in predicting health outcomes remain unresolved.

Objective: This study investigates the impact of vitamin D variables-total, bioavailable, or free 25(OH)D-on indices of bone and mineral metabolism, at baseline and in response to 2 vitamin D doses.

Design: Our objectives are implemented as exploratory analyses on data collected in a 1-year, double-blind, randomized controlled trial completed in July 2014.

Classification and Regression Tree (CART) model of sonographic signs in predicting thyroid nodules malignancy.

Purpose: To develop a Classification and Regression Tree (CART) model in order to recognize the most suspicious sonographic features of thyroid nodules and efficiently guide their management.

Methods: 791 thyroid fine needle aspiration cytology (FNAC) performed under ultrasound guidance between January 2015 and January 2017 were reviewed. Retrieved data consisted in qualitative (patient's gender, composition, echogenicity, shape, margins and echogenic foci of the nodule) and quantitative (patient's age and maximal diameter of the nodule) variables as well as the Bethesda score.

Obesity/overweight and asthma control in LEBANESE adults: a cross-sectional study.

Background: Studies exploring the association between weight and asthma are not conclusive. Both obesity and asthma have been increasing in Lebanon, their association is not yet documented. The aim of this study is to explore the effect of weight on asthma control in adults.

Limitations of platform assays to measure serum 25OHD level impact on guidelines and practice decision making.

Context: Liquid Chromatography Mass Spectroscopy (LC-MS/MS) is the preferred method to measure 25 hydroxyvitamin D (25OHD) levels, but laboratories are increasingly adopting automated platform assays.

Objective: We assessed the performance of commonly used automated immunoassays, with that of LC-MS/MS, and the National Institute of Standards and Technology (NIST) reference values, to measure 25OHD levels.

Methods/setting: We compared serum 25OHD levels obtained from 219 elderly subjects, enrolled in a vitamin D trial, using the Diasorin Liaison platform assay, and the tandem LC-MS/MS method.

Impact of Calcium and Two Doses of Vitamin D on Bone Metabolism in the Elderly: A Randomized Controlled Trial.

The optimal dose of vitamin D to optimize bone metabolism in the elderly is unclear. We tested the hypothesis that vitamin D, at a dose higher than recommended by the Institute of Medicine (IOM), has a beneficial effect on bone remodeling and mass. In this double-blind trial we randomized 257 overweight elderly subjects to receive 1000 mg of elemental calcium citrate/day, and the daily equivalent of 3750 IU/day or 600 IU/day of vitamin D3 for 1 year.

SERUM INSULIN-LIKE GROWTH FACTOR 1 IN LEBANESE SCHOOLCHILDREN AND ITS RELATION TO VITAMIN D AND FERRITIN LEVELS.

Objective: The aims of our study were to establish reference values for insulin-like growth factor 1 (IGF-1) in Lebanese schoolchildren and to evaluate the relationship between IGF-1 and age, sex, body mass index (BMI), vitamin D, and ferritin.

Methods: This cross-sectional study included 952 Lebanese schoolchildren (495 boys and 457 girls) aged 8 to 18 years. Blood samples were taken from children attending 10 schools with different socio-economic status (SES).

Effect of vitamin D replacement on indexes of insulin resistance in overweight elderly individuals: a randomized controlled trial.

Background: It is unclear whether and at what dose vitamin D supplementation affects insulin resistance (IR).

Objective: We sought to investigate whether vitamin D at doses higher than currently recommended decreases indexes of IR in an ambulatory population of overweight elderly subjects.

Design: This double-blind, randomized, controlled multicenter trial enrolled 257 elderly overweight individuals aged ≥65 y with baseline 25-hydroxyvitamin D [25(OH)D] concentrations between 10 and 30 ng/mL.

[Screening of diabetic retinopathy and maculopathy in Lebanese population using retinography and SD-OCT: The role of telemedicine].

Purpose: Diabetes and diabetic retinopathy (DR) are nowadays a major public health threat. The aim of this study is the screening of DR and diabetic maculopathy (DM) in a primary medical care center in Lebanon. We study also the interest of retinography and of SD-OCT in a telemedicine screening program.

Bilateral ovary adrenal rest tumor in a congenital adrenal hyperplasia following adrenalectomy.

Objective: In contrast to the high incidence of testicular adrenal rest tumors in adult male patients with congenital adrenal hyperplasia (CAH), ovarian adrenal rest tumors (OARTs) in female CAH patients are rare. In this case report, we describe a case of bilateral OART in a female patient with CAH due to 21-hydroxylase deficiency.

Methods: We present a detailed case report with the clinical, imaging, and laboratory findings of the patient.

Estrogen receptor α is not a candidate gene for metabolic syndrome in Caucasian elderly subjects.

Objective: Variants of estrogen receptor α (ERα) have been associated with obesity, dyslipidemia, diabetes and blood pressure. The Middle East registers some of the highest rate of metabolic syndrome worldwide. The aim of this study is to investigate the relationship between metabolic syndrome, a clustered combination of these metabolic factors, and polymorphisms PvuII and XbaI of ERα in Lebanese Caucasian elderly overweight subjects.

Chronic urticaria and autoimmune thyroiditis.

Goal: Idiopathic chronic urticaria may be associated to other auto-immune diseases, in particular thyroiditis. The goal of our study is to show that this association is higher than the incidence of auto-immune thyroiditis in the general population.

Methods: It is a retrospective observational study including 90 patients with chronic urticaria.

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Background: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments.

Vitamin D status in Lebanese university students.

Vitamin D inadequacy is highly prevalent in Lebanon in young adults, school children and postmenopausal osteoporotic women. However, this prevalence has not been previously studied in university students. Three hundred and eighty-one students (mean age 23.

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and therapeutic features of AIPmut-associated pituitary adenomas have not been studied comprehensively.

Objective: The objective of the study was to assess clinical/therapeutic characteristics of AIPmut pituitary adenomas.

[Autoimmune thyroid disease. Clinical and biological correlations].

In this article, we analyze the clinical and biological data concerning the autoimmune thyroid diseases in patients recruited in an endocrinology clinic at the university hospital center of Hôtel-Dieu de France between March 2005 and November 2005. We studied 121 patients (51 with Basedow disease and 70 with Hashimoto thyroiditis), between 13 and 68 years old, with a BMI of 24.68 kg/m2 and with a female predominance (105 women).

Multiple pancreatic insulinomas: multislice CT.

Imaging techniques are in permanent evolution and so are their respective sensitivities. We present a case of a patient who had three abdominal CT scans over 10 years for the detection of pancreatic insulinomas. The first was made on an incremental CT and showed no lesion, the second on a single-slice helical CT which revealed a single centimetric tumor of the head of the pancreas, and the third on 64-slice CT which revealed 5 infracentimetric tumors.

Impact of different metabolic syndrome classifications on the metabolic syndrome prevalence in a young Middle Eastern population.

The metabolic syndrome (MetS) prevalence in a young Middle Eastern population has never been studied. We studied this prevalence in a randomly selected population of Lebanese students using different MetS classifications. Three hundred eighty-one subjects aged 18 to 30 years were included in the study.

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH. The incidence of FH is particularly high in the Lebanese population presumably as a result of a founder effect.

Vitamin D in relation to metabolic risk factors, insulin sensitivity and adiponectin in a young Middle-Eastern population.

Objectives: Several studies suggest a link between circulating 25-hydroxyvitamin D (25(OH)D) and metabolic risk factors. However, this relation has been mainly studied in elderly and/or obese subjects. In addition, the relation between 25(OH)D and adiponectin is unclear.

Serum adiponectin and leptin levels in relation to the metabolic syndrome, androgenic profile and somatotropic axis in healthy non-diabetic elderly men.

Objective: The relationships between adipocytokines, sex steroids and the GH/IGF-I axis is poorly studied and subject to controversy in healthy elderly male subjects. We investigated the association between both adiponectin and leptin, and the metabolic syndrome (MetS), lipid parameters, insulin sensitivity, sex steroids and IGF-I in healthy non-diabetic Lebanese men.

Design And Methods: In this cross-sectional study, a total of 153 healthy non-diabetic men aged 50 and above (mean age 59.

Dietary calcium and vitamin D intake in an adult Middle Eastern population: food sources and relation to lifestyle and PTH.

Little is known about calcium and vitamin D intakes in Middle Eastern countries, where the prevalence of hypovitaminosis D is high. This study identifies major sources of calcium and vitamin D in the Lebanese diet, examines lifestyle factors that may influence intake of these nutrients and investigates the relationship between nutritional or lifestyle factors and parathyroid hormone (PTH). Three hundred sixteen young healthy volunteers aged 30 to 50 (men, non-veiled and veiled women) were recruited from different rural and urban Lebanese community centers.

Pravastatin does not affect insulin sensitivity and adipocytokines levels in healthy nondiabetic patients.

Background: The effect of statins on insulin resistance is controversial and poorly studied in nondiabetic subjects. In addition, the effect of statins on leptin and adiponectin has never been studied.

Methods: Forty healthy nondiabetic volunteers (22 men and 18 women) aged 28 to 72 were randomized either to placebo or pravastatin 40 mg daily for a 12-week period.

Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene.

Type 1 diabetes (T1D) is a complex autoimmune disease. Several genetic loci have been implicated in the susceptibility to this illness. Evaluated was the role of the CTLA4 exon 1 A49G polymorphism and its role as a risk factor for T1D in our population.