Proximate analysis and vitamin B contents of fresh-made, canned chickpea and broad bean dips commercially produced in Jordan.

Background: Chickpea and broad bean dips are among the most popular legume-based dishes in the Middle Eastern countries. They are either made freshly by restaurants or sold in cans. Various manufacturing processes may enhance or reduce the chemical compositions of any food products, including these dips, which in turn can affect their nutritional values and health benefits.

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.

Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive inborn error of metabolism characterized by elevated branched chain amino acids (BCAA) leucine/isoleucine and valine in blood of affected children. The phenotypic and genotypic spectrum of MSUD is largely unreported in Egypt. We recruited ten patients (4 males/6 females, 2weeks-12years) from nine unrelated families with clinical and biochemical evidence of MSUD.

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder.

Knowledge, Awareness, and Practices toward Colorectal Cancer and Its Dietary and Lifestyle-Related Risk Factors among Jordanian University Students: A Cross-Sectional Study.

Background: Globally, colorectal cancer (CRC) incidence is rising, and it is a leading cause of mortality, with greater death rates pronounced in developing countries, including Jordan. Understanding knowledge and awareness of etiologic factors, unhealthy lifestyles, and dietary patterns is crucial for combating ailments. Hence, this study is aimed at investigating the level of knowledge and awareness of CRC-related risk factors, practices, and possible associations of studied variables among young Jordanians.

Phytochemical analysis, antioxidant, and antimicrobial activities of Jordanian Pomegranate peels.

Pomegranate (Punica granatum) peels have shown numerous health benefits such as antioxidant, anti-inflammatory, and antimicrobial activities. These health activities are owed to the unique phytochemical components present in pomegranate peels. Variations in the pomegranate cultivar, geographical region, and extraction methods significantly affect the phytochemical composition and concentrations of pomegranate fruits and their peels, hence their health outcomes.

Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.

Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the homogentisate 1,2-dioxygenase (HGD) gene. This leads to a deficient HGD enzyme with the consequent accumulation of homogentisic acid (HGA) in different tissues causing complications in various organs, particularly in joints, heart valves and kidneys. The genetic basis of AKU in Egypt is completely unknown.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurocognitive deterioration. There are four MPS III subtypes (A, B, C, and D) that are clinically indistinguishable with variable rates of progression. A retrospective analysis was carried out on 34 patients with MPS III types at Cairo University Children's Hospital.

Remodeling Immune Response in A Celiac Disease Patient Using Herbal Supplementation: A Clinical Case-Study.

Background: Celiac disease (CD) is an autoimmune disorder characterized by abnormal serological response (autoimmune anti-tissue-Transglutaminase antibodies) triggered by gluten ingestion in genetically predisposed individuals. The only available effective management for those patients is a strict gluten-free diet.

Aim: To investigate the improvement of CD after completing a traditional herbal supplementation and alternative medicine treatment.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, first identified as the gene disrupted in the reeler mouse, a classic neurological mutant exhibiting ataxia, tremors and a 'reeling' gait. In humans, biallelic variants in RELN have been associated with a recessive lissencephaly variant with cerebellar hypoplasia, which matches well with the homozygous mouse mutant that has abnormal cortical structure, small hippocampi and severe cerebellar hypoplasia.

Association of salary and intention to stay with the job satisfaction of the dietitians in Jordan: A cross-sectional study.

This cross-sectional study aimed to determine job satisfaction among the Jordanian dietitians, the factors associated with job satisfaction, and the relationship between job satisfaction and intent to stay. A convenience sample of 600 dieticians performed a self-reported online survey. Most of the participants were females (83.

The Emergence of Rift Valley Fever in Gedaref State Urges the Need for a Cross-Border One Health Strategy and Enforcement of the International Health Regulations.

This study investigated the causative agent of a haemorrhagic fever epidemic in Gedaref state, south-east Sudan. Six cases of febrile illness with haemorrhagic manifestations presented at outpatient health-clinics. Blood samples were collected from the patients and shipped to Khartoum where they were tested for dengue virus (DENV), chikungunya virus (CHIKV), and Rift Valley fever virus (RVFV) using real-time qPCR.

"Kankasha" in Kassala: A prospective observational cohort study of the clinical characteristics, epidemiology, genetic origin, and chronic impact of the 2018 epidemic of Chikungunya virus infection in Kassala, Sudan.

Background: The public health impact of Chikungunya virus (CHIKV) is often underestimated. Usually considered a mild condition of short duration, recent outbreaks have reported greater incidence of severe illness, fatality, and longer-term disability. In 2018/19, Eastern Sudan experienced the largest epidemic of CHIKV in Africa to date, affecting an estimated 487,600 people.

The first laboratory-confirmed imported infections of SARS-CoV-2 in Sudan.

Background: The rapidly growing pandemic of coronavirus disease 2019 (COVID-19) has challenged health systems globally. Here we report the first identified infections of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2; aetiology of COVID-19) among recent international arrivals to Sudan and their contacts.

Methods: Suspected cases were identified clinically and/or epidemiologically.

ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Acid ceramidase deficiency is an orphan lysosomal disorder caused by ASAH1 pathogenic variants and presenting with either Farber disease or spinal muscle atrophy with progressive myoclonic epilepsy (SMA-PME). Phenotypic and genotypic features are rarely explored beyond the scope of case reports. Furthermore, the new biomarker C26-Ceramide requires validation in a clinical setting.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are a spectrum of rare lysosomal storage disorders characterized by acid ceramidase deficiency (ACD), resulting from pathogenic variants in N-acylsphingosine amidohydrolase 1 (ASAH1). Other than simple listings provided in literature reviews, a curated, comprehensive list of ASAH1 mutations associated with ACD clinical phenotypes has not yet been published. This publication includes mutations in ASAH1 collected through the Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease (NHS), ClinicalTrials.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Background: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. HFS shows some clinical overlap to Farber disease (FD), a recessive lysosomal storage disorder.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Aim: Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase.

Lysosomal Storage Disorders in Egyptian Children.

Objective: To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt.

Methods: The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically.

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

Objectives: To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children's Hospital for the same disorders over the past 7 years using the same technology.

Methods: Dried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Purpose: The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.

Methods: Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes.