Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

Familial hypercholesterolemia (FH) is an inherited disease characterized by the deposition of LDL in tissues causing premature atherosclerosis. Many genes are implicated in FH resulting in a large variability in the phenotype. DNA sequencing of the LDLR gene was done for forty patients clinically diagnosed with homozygous FH and forty family members variably affected.

Computed tomography of adrenocortical carcinoma containing macroscopic fat.

The presence of macroscopic fat in an adrenal mass has classically been associated with myelolipoma. Adrenocortical carcinoma is typically an aggressive malignancy with a poor prognosis. The presence of macroscopic fat is not a characteristic finding in adrenocortical carcinoma or other adrenal malignancies.

Wistar-Kyoto and spontaneously hypertensive rat blood pressure after embryo transfer into different wombs and cross-suckling.

Blood pressure (BP) varies based on genetic and environmental factors. To test genetic and environmental influences on body weight (BW) and BP, one-cell homozygous embryos were transferred into spontaneously hypertensive (SHR, pup:shr) or (Wistar-Kyoto normotensive [WKY], pup:wky) normotensive rats' oviducts (embryos: s,w; oviduct-uterine: S,W), cross-suckled at birth (nurses S,W) and weaned to normal diets at day-21. BP at day-120 was measured by radiotelemetry and analyzed by methods of linear least square rhythmometry and analysis of variance.

Primary and secondary neoplasms of the spleen.

With the exception of lymphoma involving the spleen, other primary and secondary neoplasms are rare and infrequently encountered. Primary malignant neoplasms involving the spleen are lymphoma and angiosarcoma. Primary benign neoplasms involving the spleen include hemangioma, lymphangioma, littoral cell angioma and splenic cyst and solid lesions such as hamartoma and inflammatory pseudotumor.

Nerve conduction changes following arteriovenous fistula construction in hemodialysis patients.

Background: Peripheral neuropathy is a common complication of chronic renal failure (CRF). Superimposed neuropathies may complicate arteriovenous fistulas (AVF) construction. The aim of this study was to evaluate the effect of AVF construction on nerve conduction.

Postprandial ghrelin and PYY responses of male subjects on low carbohydrate meals to varied balancing proportions of proteins and fats.

Purpose: This study was conducted to investigate whether a higher proportion of protein or fat is more favorable for optimal ghrelin and peptide YY (PYY) release in subjects consuming low carbohydrate meals.

Methods: Eight normal weight men received, on three separate occasions, high protein low fat (HPLF) (40% protein, 25% fat), low protein high fat (LPHF) (10% protein, 55% fat) or medium protein medium fat (MPMF) (25% protein, 40% fat) meals, with equal low carbohydrates content in all three meals (35% of energy). Postprandial blood samples were collected before and 15, 30, 60, 120, 180 and 240 min following the ingestion of each meal.

The I allele of the angiotensin converting enzyme I/D polymorphism confers protection against coronary artery disease.

Background: Mutations in genes regulating lipid metabolism, vasoactivity, and coagulation are important modulators of coronary artery disease (CAD).

Objective: This study investigated the association between allelic variants of the angiotensin converting enzyme (ACE), methytetrahydrofolate reductase, plasminogen activator inhibitor-1 and factor V genes and CAD.

Methods: Clinical, biochemical, and angiographic information were collected from 300 patients who underwent cardiac catheterization and their DNA was genotyped by restriction fragment length polymorphism.

Optimising the medical management of hyperglycaemia in type 2 diabetes in the Middle East: pivotal role of metformin.

Aims: Increases in the prevalence of type 2 diabetes will likely be greater in the Middle East and other developing countries than in most other regions during the coming two decades, placing a heavy burden on regional healthcare resources.

Methodology: Medline search, examination of data from major epidemiological studies in the Middle Eastern countries.

Results: The aetiology and pathophysiology of diabetes appears comparable in Middle Eastern and other populations.

Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area.

Objective: To report a case of PHACE syndrome-Posterior fossa brain abnormalities, Hemangioma (usually facial), Arterial anomalies, Coarctation of the aorta along with cardiac defects, and Eye abnormalities-in a 16-year-old female patient with a port-wine stain of the right periorbital area present since birth in conjunction with hypoplasia of the contralateral internal carotid artery.

Methods: Thyroid-stimulating hormone, free thyroxine, and growth hormone (GH) levels were measured, and insulin-induced hypoglycemia and arginine infusion tests were done. Radiologic investigations included sagittal enhanced T1-weighted magnetic resonance imaging of the brain and the pituitary gland as well as computed tomography and magnetic resonance angiography of the head and neck.

Safety of low-dose cyclosporine therapy before transplantation in kidney allograft recipients.

Introduction: Graft dysfunction immediately posttransplantation can vary from subtle slowing of the expected decrease in creatinine concentration to frank oliguria requiring dialysis therapy for days to weeks. Risk factors for slow and delayed graft function include prolonged preservation, older donor age, and high plasma renin activity in the recipient. Cyclosporine (CsA) nephrotoxicity is another cause of early kidney allograft dysfunction.

Improved Glycaemic Control with Biphasic Insulin Aspart 30 in Type 2 Diabetes Patients Failing Oral Antidiabetic Drugs: PRESENT Study Results.

AIMS: This paper presents the treatment outcomes for patients intiated on biphasic insulin aspart 30 (BIAsp 30) treatment: BIAsp 30-only, BIAsp 30 + sulphonylureas (SU), BIAsp 30 + biguanides (BI), BIAsp 30 + SU + BI, BIAsp 30 + alpha-glucosidase inhibitors (GI), and BIAsp 30 + BI + thiazolidinediones (TZD) after failing oral antidiabetic drugs (OADs) treatment. METHODS: This was a multi-national, multi-centre, six-month, prospective, open-labelled, uncontrolled, clinical experience evaluation study, with the exception of a three-month study in one country (China) ("all exclude China" and "China"). Initiation and discontinuation of BIAsp 30 treatment were entirely at the discretion of the attending physicians.

Thyroid cancer in Lebanese children and adolescents: a 15-year experience at a single institution.

Background And Aim: Thyroid carcinomas are rare in childhood and adolescence. Management of this entity remains controversial. The aim of this study is to review our experience with multidisciplinary management of papillary thyroid cancer in the pediatric population at a tertiary care specialized medical center in Lebanon.

Prevalence of asthmatic symptoms in Lebanese patients with type 1 diabetes and their unaffected siblings compared to age-matched controls.

Patients with type 1 diabetes (a TH1 disease) have been reported to be at a lower risk of developing asthma (a TH2 disease). Both diseases are affected by environmental and genetic factors. Our objective is to examine this relationship in Lebanon, a Middle-Eastern country, where no previous similar studies are available.

Adjusting the basal insulin regimen of patients with type 1 diabetes mellitus receiving insulin pump therapy during the Ramadan fast: A case series in adolescents and adults.

Background: Ramadan, the ninth month of the Islamic lunar calendar, is the holy month of fasting for adolescent and adult Muslims. Observance of Ramadan is considered obligatory for every healthy adult Muslim. During this time, Muslims refrain from eating, drinking, smoking, and administering oral or parenteral medications from sunrise to sunset daily for 28 to 30 days.

KIT gene mutations and copy number in melanoma subtypes.

Purpose: We recently identified a KIT exon 11 mutation in an anorectal melanoma of a patient who had an excellent response to treatment with imatinib. To determine the frequency of KIT mutations across melanoma subtypes, we surveyed a large series of tumors.

Experimental Design: One hundred eighty-nine melanomas were screened for mutations in KIT exons 11, 13, and 17.

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.

Most cases of juvenile-onset diabetes (JOD) are diagnosed as type 1 diabetes (T1D), for which genetic studies conducted in outbred Caucasian populations support the concept of multifactorial inheritance. However, this view may be partly challenged in particular population settings. In view of the suggestive evidence for a high prevalence of Wolfram syndrome (WFS) in Lebanon, the phenotypic variability associated with WFS1 mutations, and the high consanguinity rate in Lebanon, we aimed to evaluate the contribution of WFS1 mutations as monogenic determinants to JOD in Lebanon.

Suggested insulin regimens for patients with type 1 diabetes mellitus who wish to fast during the month of Ramadan.

Objectives: This paper reviews available information on insulin regimens that may enable patients with type 1 diabetes mellitus to fast during the month of Ramadan with minimal complications. It also provides guidance for health care professionals in managing patients who wish to observe the fast.

Methods: Relevant English-language articles were identified through searches of the MEDLINE, EMBASE, and Index Medicus Eastern Mediterranean Region databases (all, 1980-2008) conducted in February 2008 using the terms Ramadan, fasting, type 1 diabetes mellitus, hypoglycemia, and hypotension.

Negative effect of leptin on bone mass in type 1 diabetes.

Studies investigating the effect of leptin on bone mass were inconsistent and some related it to the effect of insulin. We intend in this cross-sectional study to investigate the effect of leptin on bone mass in type 1 diabetic patients. We recruited 42 patients with type 1 diabetes for which we determined weight, height, HbA1c, microalbuminuria, serum leptin, bone mineral content (BMC) and density (BMD), and body composition.

Effect of chronic hypoxia on leptin, insulin, adiponectin, and ghrelin.

The endocrine system plays an important role in the adaptation to hypoxia. The aim of this study was to assess the effect of chronic hypoxia on insulin, adiponectin, leptin, and ghrelin levels in a neonatal animal model. Sprague-Dawley rats were placed in a normobaric hypoxic environment at birth.

Variation of postprandial PYY 3-36 response following ingestion of differing macronutrient meals in obese females.

Aim: This study investigated the effect of macronutrient composition of meals on postprandial peptide YY(3-36) (PYY(3-36)) response in obese hyperinsulinemic females.

Methods: Eight obese females consumed three iso-energetic meals of different macronutrient composition, high carbohydrate (HC; 60% CHO, 20% protein, 20% fat), high fat (HF; 30% CHO, 20% protein, 50% fat) and high protein (HP; 30% CHO, 50% protein, 20% fat), on three separate occasions, 1 month apart. PYY(3-36), insulin and glucose were measured before and 15, 30, 60, 120 and 180 min following each meal.

Biphasic insulin aspart 30 treatment improves glycaemic control in patients with type 2 diabetes in a clinical practice setting: experience from the PRESENT study.

Aim: The Physicians' Routine Evaluation of Safety and Efficacy of NovoMix 30 Therapy (PRESENT) study aims to assess the safety and efficacy of biphasic insulin aspart 30 (BIAsp 30) in patients with type 2 diabetes mellitus in routine clinical practice.

Methods: This was a 6-month, prospective, multinational, multiethnic observational study involving 21 977 patients from 13 countries (India, Iraq, Jordan, Kuwait, Lebanon, Qatar, Romania, Russia, Saudi Arabia, South Africa, South Korea, Turkey and the United Arab Emirates). The patients were transferred to BIAsp 30 with or without oral antidiabetic drugs (OADs) from prior treatment with OAD (n = 8583), insulin (n = 5942), OAD + insulin (n = 4673) or diet (i.

Biphasic insulin aspart 30 treatment in patients with type 2 diabetes poorly controlled on prior diabetes treatment: results from the PRESENT study.

Aim: The safety and efficacy of biphasic insulin aspart (BIAsp30) were evaluated in patients uncontrolled on previous treatment (human insulin +/- oral hypoglycaemic agent [OHA] or OHA only) in routine clinical practice.

Methods: This was a large, multi-national, multicentre, prospective, 6-month study in type 2 diabetes mellitus patients who were prescribed BIAsp30. Changes in glycated haemoglobin (HbA(1c)), fasting plasma glucose (FPG), postprandial plasma glucose (PPPG), proportion who achieved target HbA(1c) < 7% and rate of hypoglycaemic episodes were assessed.

Calcium and phosphorus metabolism in stable renal transplant recipients.

Objectives: This study sought to elucidate the status of calcium, phosphorus, and parathyroid hormone in patients following kidney transplant.

Materials And Methods: In this cross-sectional study, 20 renal transplant recipients were evaluated. For each patient, age, sex, time since transplant, and body weight were recorded.