Biallelic Mutations in P4HTM Cause Syndromic Obesity.

We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carry pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive form of severe childhood obesity using an in-house computational staged approach. The analysis included whole-exome sequencing data of 366 children with severe obesity, 1,000 individuals of the Pakistan Risk of Myocardial Infarction Study (PROMIS) study, and 200,000 participants of the UK Biobank to prioritize genes harboring rare homozygous variants with putative effect on human obesity.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

Investigation of wound healing activity Cynara humilis of root extracts.

Background: Wound healing is among the frequent illnesses that affects the skin, and therefore, the screening of natural preparation to treat skin burn is important. In Morocco, Cynara humilis is a Moroccan medicinal plant widely used for the treatment of skin burn.

Objectives: The aim of this study was to investigate the safety of C.

[Difficult immunofixation electrophoresis interpretation of serum proteins].

Immunofixation is currently very used in medical laboratories. The interpretation of the results is usually easy, but some cases raise interpretative problems. We here report two cases difficult to interpret.

[Overview of X-linked adrenoleukodystrophy in Morocco: results of the implementation of the program of clinical and biological diagnosis].

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease, due to mutations in the ABCD1 gene. It manifests as a damage to the central and peripheral nervous system, adrenal insufficiency and testicular damage in children. Diagnosis is based on the determination of long-chain saturated fatty acids.

In Vitro and In Vivo Antioxidant and Anti-Hyperglycemic Activities of Moroccan Oat Cultivars.

Improvement of oat lines via introgression is an important process for food biochemical functionality. This work aims to evaluate the protective effect of phenolic compounds from hybrid Oat line (F11-5) and its parent (Amlal) on hyperglycemia-induced oxidative stress and to establish the possible mechanisms of antidiabetic activity by digestive enzyme inhibition. Eight phenolic acids were quantified in our samples including ferulic, -hydroxybenzoic, caffeic, salicylic, syringic, sinapic, -coumaric and chlorogenic acids.

Management of X-linked adrenoleukodystrophy in Morocco: actual situation.

Objectives: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco.

Relationship between sex hormone levels, bone mineral density and bone turnover markers in healthy moroccan men: a cross-sectional study.

Introduction: Gonadal steroid hormones play a crucial role during skeletal growth and maturation in both men and women. The aim of this study is to evaluate the relationship of sex hormone levels, bone mineral density and biochemical markers of bone turnover in healthy Moroccan men.

Methods: 142 Moroccan men who had no previous diagnosis of osteoporosis were enrolled prospectively in this cross-sectional study between December 2009 and August 2010.

[Difficulties in interpreting the monoclonal gammopathy of chance discovery: transitional gammopathy case in a significant inflammatory syndrome].

The discovery of a monoclonal immunoglobulin is usually witnessed a malignant lymphoproliferative disease, but sometimes it is a transient event during viral, bacterial or fungal infections and during an inflammatory syndrome. Achieving electrophoresis performed in an elderly patient aged 55 with anemia to 63 g/L hemoglobin showed a consistent profile with intense inflammatory syndrome and chronic atypical with elevated C-reactive protein (CRP) greater than 300 mg/L (normal values: 0-8 mg/L) associated with the presence of two thin appearance monoclonal migrating bands in gamma position. Achieving immunofixation showed IgM kappa monoclonal confirmed by using betamercaptoethanol (BME).

[Biological disturbances during the lupus-associated pancreatitis: case report].

We report in this paper the case of female patient, hypertriglyceridemia associated with milky serum and hyperglycemia have been the alarm signal of a lupus-associated pancreatitis, the confirmation of this entity was done with elevated rate of serum lipase activity. It is about a 33 years age female. She has as unique antecedent a lupus diagnosed on January of the same.

[Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family].

Familial hypertriglyceridemia is a rare autosomal recessive inborn error of metabolism. Mutation within the LPL gene constitutes the first cause of monogenic etiology. Lipoprotein lipase (LPL) is the key enzyme in triglyceride-rich lipoproteins catabolism.

Relationships between vertebral fractures, sex hormones and vitamin D in Moroccan postmenopausal women: a cross sectional study.

Background: Vertebral Fractures (VFs) are associated with bone loss that occurs before menopause but is accelerated at menopause as a result of sex hormone deficiency. To determine the association of sex hormones, bone remodeling markers and vitamin D levels with bone mineral density (BMD) and asymptomatic VFs prevalence using vertebral fracture assessment (VFA) in a cohort of Moroccan menopausal women.

Methods: This was a cross-sectional study conducted from October 2012 to April 2013 with menopausal women aged 50 years old and over.

[Association between bone turnover markers, bone mineral density and vitamin D in Moroccan postmenopausal women].

Unlabelled: The aim of the study is to find the correlation between bone turnover markers and bone mineral density in a cohort of Moroccan postmenopausal women.

Patients And Methods: A cross-sectional study, conducted over a period of 12 months from October 2008 to November 2009. Five hundred Moroccan postmenopausal women volunteers participated in this study and we included only 185.

[Congenital nephrogenic diabetes insipidus: about a case report].

Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked.

[Association of Kaposi's disease-immunoglobulin monoclonal: a new case].

Kaposi disease, a tumor virus-induced, is a cutaneomucosis disease, generated by the virus infection HHV 8 of the gamma-Herpesviridae family. This virus is involved in several lymphoid pathologies. Its role in the plasma cell proliferation genesis during monoclonal gammopathy is discussed, and results are contradictory.

[Mantle cell lymphoma diagnosis].

Recent classifications of non-Hodgkin's lymphomas based on combination of morphologic, immunophenotypic, and cytogenetic criteria have individualized mantle cell lymphoma (MCL). This clinico-biological entity which accounts for 3 to 10% of all non-Hodgkin's lymphomas, now appears to be a biological and therapeutic model for the understanding and treatment of hematologic malignancies. The present study consisting of two cases of MCL collated at laboratory of hematology of Rabat Ibn Sina hospital.

[Homozygous familial hypercholesterolemia: development and a case illustration].

Familial hypercholesterolemia (FH) is a genetic disease caused by a mutation of the gene encoding for the low density lipoproteins (LDL) membrane receptor. The mutation is transmitted in an autosomal dominant mode and is manifested by permanent elevation of the plasma LDL-cholesterol concentration; such elevation is responsible for the early onset of cardiovascular complications. The other clinical manifestation is the existence of extravascular cholesterol deposits: xanthomas and corneal arcus.

[Multiple myeloma with D immunoglobulin].

The immunoglobulin D multiple myeloma is a rare form of multiple myeloma and affects a young population. It is characterized by its clinical severity and poor prognosis. We report four cases of multiple myeloma immunoglobulin D diagnosed and supported in the university hospital Center of Sale and Rabat-Morocco.

Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.

Background/aims: Steroid 11beta-hydroxylase deficiency (11OHD), the second cause of congenital adrenal hyperplasia (CAH), accounts only for 5% of all CAH. To date, only 51 different mutations have been reported with poor clinical and biological data. Most of them could be considered as private mutations except one, p.

Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Objective: The knowledge of the molecular basis of the Phenylketonuria (PKU, MIM# 261600) in different countries provides relevant information for undertaking specific and rational mutation detection strategies in each population and for the implementation of adequate dietary and cofactor treatment. There are no data available in Moroccan population.

Design And Methods: In this work we describe the genetic analysis by mutation scanning using denaturing gradient gel electrophoresis (DGGE) and subsequent direct sequencing of 20 different PKU families from Morocco.

CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease most often due to steroid 21-hydroxylase deficiency (21OHD). The incidence of the CYP21A2 gene mutations in 21OHD has been extensively studied in recent years. The p.

Is Ramadan fasting safe in type 2 diabetic patients in view of the lack of significant effect of fasting on clinical and biochemical parameters, blood pressure, and glycemic control?

The study objective was to determine if Ramadan fasting was safe in patients with type 2 diabetes mellitus (T2D), based upon a determination of the effect of fasting on a broad range of physiological and clinical parameters, including markers of glycemic control and blood pressure. The study was carried out in Ramadan 1422 (December 2001-January 2002) at the Diabetology Services, Hopital Ibn Sina, Rabat, Morocco. One hundred and twenty T2D Moroccan patients (62 women, 58 men), aged 48-60 yrs with well-controlled diabetes through diet and/or oral hypoglycemic drugs (OHD), received dietary instructions and readjustment of the timing of the dose of OHD (gliclazide modified release) according to the fasting/eating periods.