Metabolic syndrome among patients with type 2 diabetes in Jordan: A cross-sectional study.

Metabolic syndrome is a major public health problem worldwide and an independent predictor of cardiovascular disease in patients with type 2 diabetes (T2DM). This study aimed to determine the prevalence of metabolic syndrome and its individual components among Jordanian patients with T2DM. A cross-sectional design was conducted among T2DM patients at the National Center for Diabetes, Endocrinology and Genetics in Jordan.

Post-COVID-19 syndrome among healthcare workers in Jordan.

Background: Post-COVID-19 syndrome covers a wide range of new, recurring or ongoing health conditions, which can occur in anyone who has recovered from COVID-19. The condition may affect multiple systems and organs.

Aims: To evaluate the frequency and nature of persistent COVID-19 symptoms among healthcare providers in Jordan.

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.

Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and intergenic variants makes RNA-seq a powerful companion diagnostic.

Dyslipidemia among patients with type 2 diabetes in Jordan: Prevalence, pattern, and associated factors.

Objectives: To determine the prevalence and patterns of dyslipidemia and its associated risk factors among patients with type 2 diabetes attending the National Center for Diabetes, Endocrinology, and Genetics (NCDEG).

Methods: A cross-sectional study was conducted at the NCDEG in Amman, Jordan. A total of 971 patients with type 2 diabetes were included during the period September- December 2021.

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, suggesting that OFDs constitute a subgroup of developmental ciliopathies. Through homozygosity mapping and exome sequencing of two families with variable OFD type 2, we identified distinct germline variants in INTS13, a subunit of the Integrator complex.

Evaluation of elements in hair samples of children with developmental language disorder (DLD).

Background: Recent studies have highlighted a role for trace elements and toxic metals across neurodevelopmental disorders, including developmental stuttering, Autistic Spectrum Disorders (ASD), and Attention Deficit/Hyperactivity Disorder (ADHD). However, these environmental influences have yet to be explored in relation to Developmental Language Disorder (DLD).

Methods: Elemental hair composition of seven elements; zinc (Zn), magnesium (Mg), iron (Fe), potassium (K), aluminum (Al), lead (Pb), and barium (Ba) were analyzed in hair samples from 35 children affected by DLD and 35 controls with typical language development (TLD) using both inductive coupled plasma optical emission spectroscopy (ICP-OES) and inductive coupled plasma mass spectroscopy (ICP-MS).

Effect of combined G6PD deficiency and diabetes on protein oxidation and lipid peroxidation.

Background: Oxidative Stress, an imbalance in the pro-oxidant/antioxidant homeostasis, occurs in many physiological and non-physiological processes and several human diseases, including diabetes mellitus (DM) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Since the incidence of G6PD deficiency in Jordan and many parts of the world is high, this study aimed to measure the effect of G6PD deficiency on the oxidative markers and the antioxidant glutathione (GSH) in diabetic and non-diabetic individuals.

Methods: Whole blood G6PD deficiency was screened by the fluorescent spot method, and erythrocyte G6PD activity was determined using a quantitative assay.

Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in .

Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene () and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why individuals with MRS specifically lack pancreatic endocrine cells, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation c.1129C>T, which revealed loss of the pancreas body and tail.

Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.

Low-density lipoprotein receptor-related protein 4 (LRP4) is a multi-functional protein implicated in bone, kidney and neurological diseases including Cenani-Lenz syndactyly (CLS), sclerosteosis, osteoporosis, congenital myasthenic syndrome and myasthenia gravis. Why different LRP4 mutation alleles cause distinct and even contrasting disease phenotypes remain unclear. Herein, we utilized the zebrafish model to search for pathways affected by a deficiency of LRP4.

A homozygous loss-of-function mutation causes growth delay, frequent seizures and severe intellectual disability.

Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.

[FeFe]-Hydrogenase H-Cluster Mimics with Various -S(CH)S- Linker Lengths (n = 2-8): A Systematic Study.

The effect of the nature of the dithiolato ligand on the physical and electrochemical properties of synthetic H-cluster mimics of the [FeFe]-hydrogenase is still of significant concern. In this report we describe the cyclization of various alkanedithiols to afford cyclic disulfide, tetrasulfide, and hexasulfide compounds. The latter compounds were used as proligands for the synthesis of a series of [FeFe]-hydrogenase H-cluster mimics having the general formulas [Fe(CO){μ-S(CH)S}] (n = 4-8), [Fe(CO){μ-S(CH)S}] (n = 6-8), and [Fe(CO){(μ-S(CH)S)}] (n = 6-8).

[FeFe]-Hydrogenase H-cluster mimics mediated by naphthalene monoimide derivatives of peri-substituted dichalcogenides.

Synthetic models of the active site of [FeFe]-hydrogenase containing naphthalene monoimide (NMI) of peri-substituted dichalcogenides as bridging linkers have been prepared and characterized using different spectroscopic methods. The influence of the imide functionality and the chalcogen atoms on the redox properties and the catalytic behaviour of complexes 7-10 was studied using cyclic voltammetry. The results revealed that the imide functionality has improved the chemical stability of the reduced species and the replacement of the S atoms by Se caused a cathodic shift in the oxidation peaks.

Selenium makes the difference: protonation of [FeFe]-hydrogenase mimics with diselenolato ligands.

The synthetic models of the active site of an [FeFe]-hydrogenase containing a Sn atom in the bridgehead of the diselenato ligand, namely [Fe(CO){μ-(SeCHSe)SnMe}], 3 and [Fe(CO){μ-(SeCH)SnMe}], 4 have been synthesized and characterized by different spectroscopic methods. The protonation properties of complex 4 have been investigated by monitoring the IR spectra in the carbonyl stretching region, H NMR in the hydride region as well as the Se{H} NMR upon addition of strong and moderate acids wherein the protonation of the active site of the [FeFe]-hydrogenase at one of its internal basic sites is considered an essential step in the catalytic cycle. Furthermore, we investigated the redox properties and the catalytic behaviour of complexes 3 and 4 in the presence of AcOH as a source of protons suggesting an ECE (E = electrochemical process, C = chemical process) mechanism.

[FeFe]-Hydrogenase H-Cluster Mimics with Unique Planar μ-(SCH ) ER Linkers (E=Ge and Sn).

Analogues of the [2Fe-2S] subcluster of hydrogenase enzymes in which the central group of the three-atom chain linker between the sulfur atoms is replaced by GeR and SnR groups are studied. The six-membered FeSCECS rings in these complexes (E=Ge or Sn) adopt an unusual conformation with nearly co-planar SCECS atoms perpendicular to the Fe-Fe core. Computational modelling traces this result to the steric interaction of the Me groups with the axial carbonyls of the Fe (CO) cluster and low torsional strain for GeMe and SnMe moieties owing to the long C-Ge and C-Sn bonds.

Ligand effects on the electrochemical behavior of [Fe2(CO)5(L){μ-(SCH2)2(Ph)P=O}] (L = PPh3, P(OEt)3) hydrogenase model complexes.

In this paper we study the influence of substituting one CO ligand in [Fe2(CO)6{μ-(SCH2)2(Ph)P=O}] (1) by better σ-donor L ligands affording [Fe2(CO)5(L){μ-(SCH2)2(Ph)P=O}] {L = PPh3 (2) and P(OEt)3 (3)} in relation to the steric interactions and the voltammetric behavior. Cyclic voltammetric investigations under N2 and CO showed remarkable differences in the electrochemical behaviour of complexes 2 and 3: (i) Complex 2 tends to expel PPh3 upon reduction whereas complex 3 exhibits chemical reversibility and (ii) Under CO, complex 3 reacts with CO affording a new compound P, which shows a reversible wave at E1/2 ∼ -0.9 V (vs.

Ruthenium(II) bipyridine complexes bearing quinoline-azoimine (NN'N″) tridentate ligands: synthesis, spectral characterization, electrochemical properties and single-crystal X-ray structure analysis.

Four octahedral ruthenium(II) azoimine-quinoline complexes having the general molecular formula [Ru(II)(L-Y)(bpy)Cl](PF6) {L-Y=YC6H4N=NC(COCH3)=NC9H6N, Y=H (1), CH3 (2), Br (3), NO2 (4) and bpy=2,2'-bipyrdine} were synthesized. The azoimine-quinoline based ligands behave as NN'N″ tridentate donors and coordinated to ruthenium via azo-N', imine-N' and quinolone-N″ nitrogen atoms. The composition of the complexes has been established by elemental analysis, spectral methods (FT-IR, electronic, (1)H NMR, UV/Vis and electrochemical (cyclic voltammetry) techniques.

Towards establishing a multiple sclerosis biobank in Jordan.

Genome-wide association studies (GWAS) have been a promising approach in unraveling genetic associations to multiple sclerosis (MS), a complex, multifactorial disease. Biobanks are repositories of patient biospecimens and information that can promote GWAS research. However, the success of GWAS and biobanking is dependent on the level of participation of MS patients in genetic research.

The promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients.

Multiple sclerosis is a chronic inflammatory autoimmune disease of the human central nervous system. A number of studies with compelling evidence have provided correlation between single nucleotide polymorphisms in interleukin-7 receptor alpha and multiple sclerosis (MS) in several populations. One such variation, rs6897932, is located within the coding region and results in the generation of a soluble receptor, whereas another one, rs11567685, is located in the promoter region and affects gene expression.

Prevalence of MTHFR C677T single nucleotide polymorphism in genetically isolated populations in Jordan.

Methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphism is a major inherited risk factor of venous thromboembolism. We sought to determine its prevalence in genetically isolated populations of Chechens and Circassians in Jordan. The MTHFR C677T mutation was analyzed from blood samples taken from 120 random unrelated Chechens and 72 Circassians.

FAM20A mutations can cause enamel-renal syndrome (ERS).

Enamel-renal syndrome (ERS) is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS), which closely resembles ERS except for the renal calcifications. We characterized three families with AIGFS and identified, in each case, recessive FAM20A mutations: family 1 (c.

Diabetes mellitus in genetically isolated populations in Jordan: prevalence, awareness, glycemic control, and associated factors.

Objectives: Diabetes mellitus is one of the most common non-communicable diseases globally. This study seeks to estimate the prevalence of impaired fasting glycemia and type 2 diabetes mellitus in genetically isolated populations in Jordan: the Circassians and Chechans.

Research Design And Methods: Data were analyzed from a cross-sectional study that included a random sample of adult Circassians and Chechans.

Genetic polymorphisms of the CYP3A4, CYP3A5, CYP3A7 and CYP1A2 among the Jordanian population.

Cytochromes P450 (CYP450) plays an extremely vital role in oxidation, reduction, and peroxidation of numerous endogenous and exogenous compounds, like drugs and procarcinogens. Mainly, expression occurs in the liver, in varying polymorphic forms. Therefore, proposed as biomarkers of susceptibility to carcinogenicity and toxicity.

Complementary and alternative medicine use among Jordanian patients with diabetes.

Purpose: This study explores the prevalence, type, frequency, purpose and pattern of herbal preparation use as complementary and alternative medicine (CAM) in a cohort of patients with diabetes in Jordan.

Method: The study took the form of a cross-sectional survey of patients attending the outpatient departments at The National Centre for Diabetes, Endocrine and Genetics (NCDEG), in Amman. The method was based on semi-structured questionnaire.

First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.

Introduction: Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components.

Material And Methods: Clinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families.

Results And Discussion: Fourteen patients were children of consanguineous parents and suffered from autosomal recessive (AR) CGD forms with mutations in the CYBA, NCF1, and NCF2 genes encoding p22phox, p47phox, and p67phox proteins, except for one patient in whom the mutation's location was not found.

Prevalence of sexually transmitted infections among sexually active Jordanian females.

Objectives: To determine the prevalence of the most important sexually transmitted infections among women of child bearing age in Jordan.

Goal: To assess the need for screening programs to detect sexually transmitted infections.

Study Design: This is a cross-sectional study wherein consecutive symptomatic and asymptomatic women presenting to gynecology and family planning clinics from different areas in Jordan were tested for reproductive tract infections caused by Chlamydia trachomatis, Neisseria gonorrhoeae, Treponema pallidum, and Trichomonas vaginalis.