Association between albumin and depression: a population-based study.

INTRODUCTION: Albumin is the most prevalent plasma protein and is involved in a variety of critical physiological processes. Low serum albumin levels have been linked to depression symptoms in people who had recent suicide attempts and those suffering from several mental diseases such as acute episodes of mania, and schizophrenia. However, there has been little investigation into the relationship between depression and serum albumin levels in community-dwelling persons. This research aimed to examine the relationship between serum albumin and depression in a population-based sample and whether it differs depending on other possible confounders. METHODS: Our data were derived from a national household population study conducted in 2017 with a sample size of 3,521 Jordanians aged > 17 years old. The Patient Health Questionnaire (PHQ-9) scale, a self-administered scale, was used to screen for depression. Concentrations of serum albumin and other medical biomarkers were measured by blood tests. Using descriptive statistics for depression distribution and multivariate logistic regression analysis, the connection between albumin levels and depression was investigated. RESULTS: The odds ratios (ORs) for depression were significantly lower in the third and fourth quartiles of serum albumin concentration compared to the first quartile (OR = 0.64 and 0.66, respectively; P values = <0.001 and <0.001, respectively). This association was statistically significant even after controlling for variables such as gender, age, marital status, education, and occupation (OR = 0.67 and 0.75, respectively, and P values = 0.001 and 0.02, respectively), as well as after further controlling for other health status variables such as nutrition, comorbidity, body mass index, somking status, and biomedical markers such as serum calcium, phosphate, and magnesium (OR = 0.58 and 0.59, respectively, and P values = <0.001 and 0.001, respectively). Moreover, the unadjusted and adjusted odds ratios in the three regression models declined linearly with rising quartiles of serum albumin (P trend = <0.001, 0.009, and 0.001, respectively). CONCLUSIONS: Our research found an inverse relationship between serum albumin and depression. Serum albumin could be a warning measure for depression. It is required for appropriate intervention measures to be implemented.

The prevalence of thyroid dysfunction in Jordan: a national population-based survey.

BACKGROUND: The objectives of this study are to assess the prevalence of clinical and subclinical hypo- and hyperthyroidism and their associated factors among Jordanian adults. METHODS: In a cross-sectional population-based survey, a representative sample that included 3753 Jordanian adults was selected from the 12 governorates that represent the three regions of the country, in the year 2017. Sociodemographic and clinical data were obtained and blood samples were collected from all participants. Thyroid stimulating hormone (TSH), free tri-iodothyronine (FT3), free thyroxine (FT4), thyroglobulin antibody (TgAb) and thyroid peroxidase antibody (TPOAb) were measured to evaluate the thyroid function. RESULTS: The overall prevalence of thyroid dysfunction was 11.9%. Around 76% of patients with thyroid dysfunction were previously undiagnosed. The prevalence of hypothyroidism and subclinical hypothyroidism was 3.1 and 5.3%, respectively. The prevalence of hyperthyroidism and subclinical hyperthyroidism was 1.0 and 2.5%, respectively. Female preponderance which was mainly related to hypothyroid disorders was evident. The prevalence of positive TPOAb and TgAb in the study population was 14.9 and 15.3%, respectively. The prevalence of detectable TPOAb and TgAb in the euthyroid participants was10.3 and 11.9%, respectively. Logistic regression analysis revealed that female sex, age ≥ 50 years and the presence of TgAb and TPOAb were strongly associated with hypothyroidism. Hyperthyroidism was significantly associated with the presence of TPOAb and age ≥ 50 years. CONCLUSION: The prevalence of unrecognized thyroid dysfunction is high among Jordanians. A public health policy of screening high risk groups particularly those ≥50 years of age is recommended.

The relationship between aldose reductase gene C106T polymorphism and the severity of retinopathy in Type 2 diabetic patients: A case-control study.

BACKGROUND: Hyperglycemia over-activates glucose reduction to sorbitol by aldose reductase (ALR) leading to osmoregulation disruption and cellular damage that cause diabetic complications. We investigated the association of C106T polymorphism of ALR2 gene with the severity of diabetic retinopathy (DR) in Jordanian Type 2 diabetic patients in this case-control study at the Ophthalmology clinic of the National Centre of Diabetes, Endocrinology, and Genetics. MATERIALS AND METHODS: A total of 277 subjects participated in the study (100 diabetics without retinopathy, 82 diabetics with retinopathy, and 95 controls). Blood samples were withdrawn followed by DNA extraction. C106T polymorphism was examined by polymerase chain reaction followed by restriction fragment length polymorphism and gel electrophoresis. Statistical analysis was performed by SPSS software using analysis of variance, multiple logistic regression or Chi-square test. RESULTS: The CT and TT genotypes were significantly more prevalent in DR patients than those without DR (CT 50% vs. 38%, TT 16.7% vs. 8%, P = 0.02 and 0.01, respectively). DR patients had T allele more frequently than those without it (41.7% vs. 27%, P = 0.007). Diabetics without retinopathy showed similar genotype and allele frequency to those of nondiabetic controls. No correlation between CT/TT genotypes and the severity of DR in affected subjects was found (χ2: 3.049, P = 0.550). CONCLUSION: C106T polymorphism increased the risk to develop retinopathy in Jordanian Type 2 diabetic patients. T allele of ALR2 was associated with DR. The severity of DR did not show an association with this polymorphism.

The performance of anthropometric measures to predict diabetes mellitus and hypertension among adults in Jordan.

OBJECTIVES: This study aimed to evaluate and compare the abilities of waist circumference (WC), body mass index (BMI), hip circumference (HC), waist-to-hip ratio (WHR) and waist-to-height ratio (WHtR) to predict recently and previously diagnosed diabetes and hypertension and assess their appropriate cut-off values among Jordanian adults. METHODS: Data from the 2017 cardiovascular risk factors survey were analyzed to achieve the study objective. The survey collected extensive data from a national population-based sample of Jordanian residents. A structured questionnaire was used to collect sociodemographic variables and clinical data. Blood samples were taken for biochemical measurements. Anthropometric characteristics were measured by the same team of trained field researchers. RESULTS: This study included a total of 1193 men and 2863 women. Their age ranged from 18 to 90 year with a mean (SD) of 43.8 (14.2) year. WHtR performed better than other anthropometric measures and had a good ability (AUC > 0.80) among women and fair ability among men to predict newly diagnosed diabetes and previously diagnosed diabetes and hypertension. The appropriate cut-off points for anthropometric measures among women were 92 cm form WC, 104 cm for HC, 30 Kg/m2 for BMI, 0.85 for WHR, and 0.60 for WHtR. For men, the appropriate cut-off points were 100 cm for WC, 104 cm for HC, 27 Kg/m2 for BMI, 0.93 for WHR, and 0.57 for WHtR. CONCLUSION: WHtR performed better than other anthropometric measures in predicting diabetes and hypertension among adult population in Jordan. We recommend WHtR as a measure of choice with a cut-off value of 0.6 for women and 0.57 for men to predict diabetes and hypertension among Jordanians.

The Effect of Gonadotropin-Releasing Hormone Analogue on Final Adult Height in Children with Idiopathic Short Stature.

OBJECTIVE: To assess final adult height (FAH) in children with short stature treated with gonadotropin-releasing hormone analogue (GnRHa). METHODS: All patients with idiopathic short stature (ISS) with normally timed puberty and a Tanner stage between 2 and 3, who achieved their FAH between 2005 and 2015, were included in this clinical historical cohort study. Height gain, FAH, and mid-parental height of 28 children with ISS who received GnRHa treatment for 1.8 ± 1.0 years to delay their puberty were compared to 31 untreated children. RESULTS: The FAHs of the treated and the untreated girls were 151.3 ± 5.1 and 146.8 ± 3.8 cm (p = 0.01), respectively. The FAHs of the treated and the untreated boys were 156.4 ± 4.7 and 152.3 ± 5.7 cm (p = 0.111), respectively. The height gain in the treated and the untreated girls was 1.6 ± 7.8 and -3.6 ± 5.7 cm (p = 0.036), respectively. Height gain in the treated and the untreated boys was -5.1 ± 13.6 and -11.5 ± 8.4 cm (p = 0.171), respectively. CONCLUSION: GnRHa therapy has a modest effect in improving FAH in adolescent females with ISS but not in boys.

Fast RBC loading by fluorescent antibodies and nuclei staining dye and their potential bioanalytical applications.

This study was designed to load different antibodies (Abs) and a fluorescent dye onto the red blood cell (RBC) surface. We have used fluorescein isothiocyanate (FITC)-conjugate anti-human Ab, CD22-PE (B-cell marker-phycoerythrin Ab), and 4',6-diamidino-2-phenylindole (DAPI) for insertion over the RBC surface. In a first step, conjugation experiments were performed: in dimethyl sulfoxide (DMSO), RBCs were conserved and modified by succinic anhydride to create an additional -COOH group, and then activated with 3-(3-dimethylaminopropyl)carbodiimide-N-hydroxysuccinimide (EDC-NHS) in 2-(N-morpholino) ethanesulfonic acid hydrate buffer for insertion of labeled Abs or DAPI. In a second step, fluorescence signals were evaluated by microscopy and the mean fluorescence intensities of cell lysates were measured by spectrofluorometry. The results showed clear evidence for adsorption of FITC- and PE-labeled Abs to activated conserved RBCs. DAPI was adsorbed well also to DMSO-conserved RBCs without the need for an activation step. The DMSO conservation step was enough to create reactive RBCs for insertion of specific Abs and fluorescent dyes. The additional modification by succinic anhydride and activation with EDC-NHS resulted in two- to seven-fold increase in fluorescence signals, indicating a much higher RBC loading capacity. These Ab- and fluorescent dye-functionalized RBCs have potentially high application in developing new biomedical diagnostic and in vitro assay techniques.

APOE Gene polymorphism among Jordanian Alzheimer`s patients with relation to lipid profile.

OBJECTIVE: To investigate the frequencies of the apolipoprotein E (APOE) alleles and genotypes and study their relationship with the lipid profile in Jordanian patients with late-onset Alzheimer`s disease (AD). METHODS: This case-control study was carried out on 71 Jordanian individuals: 38 patients with late-onset AD (age >/=65 years) and 33 age-matched healthy controls. All participants were recruited from senior homes and Jordan University Hospital, Amman, Jordan between January 2010 and December 2013. Each sample was examined for APOE`s 3 major isoforms (e2, e3, e4) using the polymerase chain reaction technique (PCR) followed by the sequencing technique. In addition, samples were screened for lipid profiles (total cholesterol (TC), high-density lipoprotein (HDL), lower-density lipoprotein (LDL), and triglyceride (TG) levels. RESULTS: The e3/e4 genotype and e4 allele prevalence were higher in AD patients compared to healthy controls (26.3% vs. 3.0%, p=0.03 and 15.8% vs. 4.5%, p=0.03; respectively). In the AD group, the e2 carriers showed the lowest levels of total and LDL cholesterol, and the e4 carriers showed the highest levels of total and LDL cholesterol, although the difference was not statistically significant (p>0.05). CONCLUSION: APOE-e4 frequency was almost 4 times higher in the AD group compared to the control group, and this difference was statistically significant. A trend that was observed in the AD group regarding the lipid profile and e2 and e4 carriers requires further investigation using a larger sample size.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical heterogeneity, posing considerable challenges for patients, physicians, and researchers. We report on the genetic findings from a systematic study of a large collection of 174 independent ARCMT families. Initial sequencing of the three most common ARCMT genes (ganglioside-induced differentiation protein 1­GDAP1, SH3 domain and tetratricopeptide repeats-containing protein 2­SH3TC2, histidine-triad nucleotide binding protein 1­HINT1) identified pathogenic mutations in 41 patients. Subsequently, 87 selected nuclear families underwent single nucleotide polymorphism (SNP) genotyping and homozygosity mapping, followed by targeted screening of known ARCMT genes. This strategy provided molecular diagnosis to 22% of the families. Altogether, our unbiased genetic approach identified pathogenic mutations in ten ARCMT genes in a total of 41.3% patients. Apart from a newly described founder mutation in GDAP1, the majority of variants constitute private molecular defects. Since the gene testing was independent of the clinical phenotype of the patients, we identified mutations in patients with unusual or additional clinical features, extending the phenotypic spectrum of the SH3TC2 gene. Our study provides an overview of the ARCMT genetic landscape and proposes guidelines for tackling the genetic heterogeneity of this group of hereditary neuropathies.

Vitamin B12 deficiency in Jordan: a population-based study.

BACKGROUND: Vitamin B12 deficiency is highly prevalent worldwide and has been linked to hematologic, neurologic and psychiatric diseases. There are a few studies regarding vitamin B12 deficiency in developing countries in general and in Jordan in particular. OBJECTIVES: The aims of the present study were to assess the vitamin B12 status of Jordanians at national level and to identify population groups at high risk for vitamin B12 deficiency. METHODS: Vitamin B12 status was assessed in a national sample of 5,640 subjects aged >8 years. The study involved interviews, laboratory measurements of vitamin B12 and other parameters, and physical measurements. The present report deals exclusively with subjects aged >18 years (n = 2,847). RESULTS: The percentages of subjects with low (<200 pg/ml, n = 857), borderline (201-350 pg/ml, n = 382) and normal vitamin B12 level (>350 pg/ml, n = 1,608) were 30.1, 13.4 and 56.5%, respectively. Of the 382 subjects who had borderline vitamin B12 level, 61 subjects had both increased total homocysteine (tHcy; >13 µmol/l) and low holocobalamin (<35 pmol/l). Since elevated tHcy also indicates folate deficiency, the overall prevalence of vitamin B12 deficiency reached 32.2% (31.9% among males and 32.4% among females) after adding those 61 subjects to the 857 subjects with low vitamin B12 level. CONCLUSION: In conclusion, our study showed that almost one third of Jordanian adults have vitamin B12 deficiency with no gender differences. Intake of vitamin B complex and multivitamins seems to protect from vitamin B12 deficiency. An in-depth study of the dietary and eating habits of Jordanians may be needed to explain the observed age and regional differences in vitamin B12 deficiency in the study population.

N-acetyltransferase-2 genotypes among Jordanian patients with diabetes mellitus.

BACKGROUND: There are inconsistent reports concerning N-acetyltransferase 2 (NAT2) genotypes in diabetes mellitus (DM). OBJECTIVE: The objective of the study was to explore any association between NAT2 genotypes and Type 1 and Type 2 DM in Jordanians. METHODS: 106 Type 1 and 110 Type 2 DM patients attending the "National Center for Diabetes, Endocrinology and Genetics", Amman, Jordan, were included in the study. DNA was extracted from venous blood using a commercial DNA extraction kit. NAT2 genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The frequency of the genotype that encodes rapid acetylation (the wild-type genotype NAT2*4/4) was similar in the two types of diabetes mellitus. Those which encode intermediate acetylation (NAT2*4/5, NAT2*4/6, and NAT2*4/7) were higher in Type 2 diabetes (0.482) compared to Type 1 diabetes (0.339), while the frequency of genotypes which encode slow acetylation (NAT2*5/5, NAT2*5/6, NAT2*5/7, NAT2*6/6, NAT2*6/7, and NAT2*7/7) were higher in Type 1 diabetes (0.547) compared to Type 2 diabetes (0.418). CONCLUSION: There is excess of genotypes encoding intermediate acetylation in Type 2 DM and an excess of slow acetylator genotypes in Type 1 DM. Furthermore, NAT2*4/6 genotype (which encodes intermediate acetylation) was more prevalent in Type 2 DM. Type 1 DM behaved similar to non-diabetic controls in regard to acetylation status.

Quality of care for type 2 diabetes in Jordan: A national study.

The present study aimed to describe the quality of healthcare delivered to patients with type 2 diabetes in Jordan in 2017. Another objective was to identify the factors related to glycemic control and hospital admission due to type 2 diabetes. This was a national population-based household study. Aspects of care quality were evaluated in relation to outcomes, such as glycemic control [hemoglobin A1c; glycated hemoglobin (HbA1c) level <7%] and hospital admission owing to diabetes. A total of 754 patients previously diagnosed with type 2 diabetes and aged ≥25 years were recruited. The number of annual visits was >10 for 48.5% and 1-4 for 38.2% of patients. The proportion of patients achieving glycemic control was 33.0%. In total, 4 of 5 patients reported easy access to health facilities and good health team support. Foot and eye examinations were performed for 24.9 and 55.0% of the patients, respectively. Dietary advice was delivered to 87.5% of the patients. Glycemic control exhibited a significant inverse association with the duration of diabetes and the number of annual visits. Following a specific diet for managing diabetes and the cessation of medication after an improved well-being were independently associated with a higher likelihood of glycemic control (HbA1c <7%). On the whole, the present study demonstrates that a number of indicators for the quality of diabetes care in Jordan were relatively satisfactory; however, others require improvement. The findings demonstrate that numerous patients with diabetes in Jordan require education about the treatment and management of, and complications associated with diabetes, especially those who are recently diagnosed.

Control of diabetes, hypertension, and dyslipidemia in Jordan: a cross-sectional study.

To determine the level of glycemic, blood pressure (BP), and lipids control among patients with type 2 diabetes mellitus (DM) attending the National Center for Diabetes, Endocrinology and Genetics and to determine factors associated with poor control. Methods: A cross-sectional study of 1200 Jordanian type 2 DM patients was included in this study during the period of December 2017-December 2018. We reviewed the charts of these patients until January 2020. Data obtained from medical records included information about sociodemographic variables, anthropometric measurements, glycated hemoglobin (HbA1c), BP, low-density lipoprotein (LDL), the presence of DM complications, and treatment. Results: The percentage of subjects who had HbA1c values of less than 7% was 41.7%. BP targets (<140/90 and 130/80 mmHg) were achieved in 61.9 and 22% of our patients, respectively. LDL targets less than 100 and 70 mg/dl or less were achieved in 52.2 and 15.9% of our studied population. Only 15.4% of our patients could have simultaneous control of HbA1c less than 7%, BP less than 140/90 mmHg, and LDL less than 100 mg/dl. Factors associated with poor glycemic control were obesity [odds ratio (OR)=1.9], DM duration between 5 and 10 years or more than 10 years (OR=1.8 and 2.5, respectively), and the use of a combination of oral hypoglycemic agent plus insulin or insulin alone (OR=2.4 and 6.2, respectively). Moreover, factors associated with uncontrolled BP (≥140/90) were male gender (OR=1.4), age 50-59 years or at least 60 years (OR=3.3 and 6.6, respectively), overweight and obesity (OR=1.6 and 1.4, respectively), insulin use (OR=1.6), and LDL at least 100 mg/dl (OR=1.4). Conclusion: The overall prevalence of poor glycemic control was high and alarming. Future research should focus on capturing all variables that may impact glycemic, BP, and dyslipidemia control, with special emphasis on a healthy lifestyle that would be of great benefit in this control.

Prevalence and Correlates of Hypophosphatemia Among Type 2 diabetic patients attending the National Center for Diabetes, Endocrinology and genetics (NCDEG).

Objectives: To estimate the prevalence of hypophosphatemia and its associated factors among type 2 diabetic patients attending (NCDEG) in Amman-Jordan, and compare the prevalence of hypophosphatemia between diabetics, nondiabetic subjects. Patients and methods: A case-control study was carried out at (NCDEG). A total of 1580 diabetic patients (59.7% females, 40.3% males), mean age (SD) of 55.15 ± 15.3 attended this center from January 1st, 2020 till March 31st, 2020 were included. Our study included 2155 non-diabetic from the national population-based multipurpose study in Jordan in 2017, to compare serum inorganic phosphate between diabetic, nondiabetic. Pregnant, those aged <18 or >80 years, GFR below 30 ml/min or those on hemodialysis were excluded. The data included patient's age, gender, smoking and medication, HbA1c. Statistical analysis were performed using the Package for Social Sciences (SPSS) version 21. Results: The overall prevalence of hypophosphatemia in the diabetic patients was significantly higher (10.5% vs. 3.2%, P-value 0.001). Multivariate logistic regression analysis showed that in diabetic: males, current smokers, diabetic patients with HbA1c between 7 and 9% and >9%, those who on thiazide diuretics were 2, 1.9, 1.8, 1.7, and 1.9 times, more likely to have hypophosphatemia than their counterparts (P-values 0.001, 0.001, 0.006, 0.018 and 0.003), respectively, and it was found those on statin were less likely to have hypophosphatemia. Conclusion: The prevalence of hypophosphatemia among type 2 diabetic patients is high. Factors independently related to hypophosphatemia in diabetic patients: male gender, smoking, poor glycemic control, taking thiazides and not being on statin.

The prevalence of hypertension and its progression among patients with type 2 diabetes in Jordan.

BACKGROUND: Assessing the prevalence and progression of hypertension among diabetics is crucial for designing appropriate strategies for successfully managing hypertension and its life-threatening complications. This study aimed to assess the prevalence of hypertension, its progression, and its determinants among type 2 diabetes mellitus (T2DM) patients in Jordan. MATERIALS AND METHODS: A cross-sectional study was conducted among 1382 Jordanian patients with T2DM in the period from January 2019 to January 2020. Blood pressure (BP) was followed and measured every 2-3 months using standardized automated sphygmomanometer during patients' routine visits for a total of 12 months. Data were obtained from medical records that included sociodemographic variables, anthropometric measurements, HbA1c, lipid profile, presence of T2DM complications and treatment. RESULTS: The prevalence of hypertension among T2DM patients at the baseline was 74.6% (95% CI: 72.2%, 76.9%). The one-year incidence of hypertension among T2DM patients who were free of hypertension at the baseline was 26.2% (95% CI: 21.7%, 31.1%). In the multiple logistics regression analysis, patients older than 60 years (OR = 1.3 (95% CI: 1.01, 1.7); p-value 0.045) and those with positive family history of hypertension (OR = 4.2 (95% CI: 1.2, 8.2); p-value 0.026) were more likely to have uncontrolled hypertension. Patients who were using insulin only were less likely (OR = 0.5 (95% CI: 0.2, 0.9); p-value 0.026) to have uncontrolled hypertension compared to those who were on oral hypoglycemic agents only. CONCLUSION: The prevalence of hypertension among Jordanian patients with T2DM is alarmingly high. Healthcare providers should be committed to policies or preventive strategies targeting the modifiable risk factors associated with hypertension.

Osteoporosis among Postmenopausal Women in Jordan: A National Cross-Sectional Study.

Osteoporosis is considered a widespread health problem that affects senior citizens, particularly older women, after the menopause. This national study aimed to estimate the prevalence of osteoporosis among Jordanian postmenopausal women and to determine the association of demographic and nutritional factors, such as calcium and vitamin D supplement intake, with osteoporosis in postmenopausal women. A cross-sectional study was conducted among 884 postmenopausal women aged ≥50 years. A multistage sampling technique was used to select participants from three geographic regions of Jordan (north, middle, and south). The data were collected from the participants by a team of field researchers comprising men and women through a standard questionnaire. The prevalence of osteoporosis was 19.8% among postmenopausal Jordanian women. The study results showed that age (p ˂ 0.001), geographic region (p = 0.019), occupation (p = 0.002), and educational level (p = 0.001) were significantly associated with osteoporosis. Moreover, osteoporosis was significantly associated with calcium and vitamin D supplement intake (p < 0.05). There is a high prevalence of osteoporosis among postmenopausal Jordanian women. Therefore, there is a need to educate women at this age, and probably at an earlier age, to prevent or reduce the development of osteoporosis.

Lack of relationship between Alu repetitive elements in angiotensin converting enzyme and the severity of diabetic retinopathy.

BACKGROUND: Angiotensin-converting enzyme (ACE) stimulates angiogenesis that leads to the development of diabetic retinopathy (DR). Alu repetitive elements in ACE gene increase the expression of this enzyme. We investigated the frequency of Alu repetitive elements, insertion/deletion (I/D) polymorphism, in angiotensin-converting enzyme among diabetic retinopathy patients and whether this polymorphism is associated with the severity of retinopathy in Jordanians with type 2 diabetes. METHODS: A total of 277 subjects participated in this case/ control study (100 diabetic patients without DR, 82 diabetic patients with DR, and 95 healthy control). Blood samples were withdrawn, followed by DNA extraction. Alu repetitive elements were examined by polymerase chain reaction followed by gel electrophoresis. RESULTS: The genotype and allele frequencies among diabetic patients, were close to healthy controls (genotypes, II 44.4 vs. 44.7%, ID 44.4 vs. 42.6%, DD 12.2 vs. 12.8%, P = 0.402 and 0.677 respectively, alleles, I 65.6 vs. 66%, D 34.4 vs. 34%, P=0.863). Complicated diabetics with retinopathy showed similar genotype and allele frequency to those without complications. The severity of diabetic retinopathy in affected individuals was not correlated with I/D polymorphism (P=0.862). CONCLUSIONS: We conclude that the presence of Alu repetitive elements did not increase the development or progression risk to retinopathy in Jordanian type 2 diabetic patients. No association between I or D alleles with the severity of DR was detected.

Effect of Metformin on Anthropometric Measurements and Hormonal and Biochemical Profile in Patients with Prediabetes.

OBJECTIVES: Metformin is the most widely preferred first-line oral antidiabetic agent that results in clear benefits in blood sugar regulation and diabetes-related complications. This study is aimed at assessing the effect of metformin on anthropometric, hormonal, and biochemical parameters in patients with prediabetes or insulin resistance. METHODS: A prepoststudy was conducted among 52 patients with prediabetes or insulin resistance who met the inclusion criteria. Weight, body mass index (BMI), and waist circumference were measured before and 12 months after metformin treatment. Serum concentrations of sex steroids, gonadotropins, and lipids were also assessed. Homeostasis model assessment (HOMA) index and quantitative sensitivity check (QUICKI) index scores were calculated before metformin treatment and after 12 months of use. RESULTS: After 12 months of metformin treatment, female patients had significant reduction in weight, BMI, and waist circumference after adjusting for age. Metformin use for 12 months resulted in significant reduction in mean fasting blood glucose and HbA1c in females only. Total cholesterol decreased significantly among men only and serum HDL-C showed a significant rise among females only. Serum LDL-C and triglycerides did not change significantly in females and males. Our study did now significant changes in ACTH and cortisol levels in both females and males after metformin treatment. Metformin use resulted in significant increase in luteinizing hormone (LH) and progesterone levels in males, while it was associated with significant increase in prolactin, follicular stimulating hormone (FSH), and dehydroepiandrostenedione-sulphate (DHEA-S) levels and significant decrease in total testosterone level in females. CONCLUSION: Metformin treatment in females with prediabetes reduces BMI, waist circumference, fasting blood glucose, and HbA1c. The changes in the studied parameters differed significantly according to sex.

SLCO1B1 Gene Polymorphisms (rs2306283 and rs4149056) and Statin-Induced Myopathy in Jordanian Diabetics.

BACKGROUND: The use of statins to lower high serum cholesterol levels may be associated with a number of adverse reactions, including severe myopathy. The solute carrier organic anion transporter 1B1 (SLCO1B1) gene, which encodes the organic anion-transporting polypeptide OATP1B1, is related to the intracellular transport of statins. The aim of this research was to study the association of rs2306283 and rs4149056 genetic polymorphism of the SLCO1B1 gene with the development of statin-induced myopathy in Jordanian diabetics receiving statins. METHODS: We included 413 patients attending the Diabetes Clinics of the National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan. The study was approved by the Institutional Review Board of NCDEG. Myopathy was defined as the elevation of creatine kinase more than 3 times the upper limit of normal. Every subject signed an informed consent form and donated 3-5 mL of venous blood. Genome DNA was extracted from lymphocytes of peripheral blood. Genotypes were identified using the Tetra Amplification Refractory Mutation System of SLCO1B1. RESULTS: The minor allele frequencies of rs2306283 [G] and rs4149056 [C] were 0.38 and 0.23, respectively. The two SNPs followed the Hardy-Weinberg equilibrium. The development of SIM was significantly associated with the homozygous and heterozygous minor allele genotype of rs4149056 (CC and CT), and the homozygous wild type allele genotype of rs2306283 (AA). There was no linkage disequilibrium between the two SNPs in the studied subgroups. CONCLUSION: Genetic polymorphism in the SLCO1B1 Gene is a risk factor for the development of SIM in Jordanian patients.

The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan.

BACKGROUND: Neuromuscular disorders (NMDs) encompass a large group of genetic and acquired diseases affecting muscles, leading to progressive muscular weakness. These disorders are frequently inherited in an autosomal-recessive (AR) pattern with extreme heterogeneity and various clinical presentations. Consanguinity increases the likelihood of AR disorders, with high rates of cousin inbreeding in Jordan and other Arab countries. In Jordan, the implementation of genetic diagnosis is limited, with delayed or misdiagnosis of genetic disorders. Thus, the lack of genetic counselling and specialized treatment options is frequently encountered in the country. METHODS: Whole-exome sequencing (WES) was conducted for eleven probands from ten Jordanian families who have been formerly diagnosed with limb-girdle dystrophy (LGMD) and Charcot-Marie-Tooth disease (CMT). The previous diagnoses were established principally on clinical examination in the absence of genetic testing. Additionally, Sanger sequencing and segregation analysis were used to validate the resulted pathogenic variants. RESULTS: Multiple variants were identified using WES: For DYSF gene, a missense variant (c. 4076 T > C, p.Leu1359Pro) in exon 38; a nonsense variant (c. 4321C > T, p.Gln1441Ter) in exon 39; a single-nucleotide deletion (c. 5711delG, p.Gly1904AlafsTer101) in exon 51. Other variants included a missense variant (c. 122G > A, p.Arg41Gln) in exon 3 of MPV17 gene, a single-nucleotide deletion (c. 859 delC, p.Lue287Ser fs14*) in exon 6 of SGCB gene, a missense variant (c. 311G > A, p.Gly104Asp) in exon 2 of SLC25A46 gene, a nonsense variant (c. 496C > T, p.Arg166Ter) in exon 5 of SGCG gene, and a nonsense variant (c.3202C > T, p.Gln1068Ter) in exon 13 of SH3TC2 gene. CONCLUSION: Utilization of WES is helpful to facilitate rapid and accurate NMDs diagnosis, complementing a thorough clinical evaluation. This approach can be invaluable to aid in the identification of genetic risks among consanguineous couples. Subsequently, well-informed genetic counselling and potential individualized treatment can be provided.

Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene.

Limb-girdle muscular dystrophies (LGMDs) are a large group of heterogenous genetic diseases characterized by muscle weakness. In this study, an induced pluripotent stem cell (iPSC) line was generated from LGMD patient's skin dermal fibroblasts, carrying a homozygous mutation in the Sarcoglycan Beta (SGCB) gene; chr4:52890221, c. 859 delC, p.Lue 287Ser fs14*. The reprogramming process was carried out using Sendai viruses encoding for Yamanaka factors. The resulting iPSCs showed normal morphology and karyotype, expressed pluripotency markers, demonstrated the potential to differentiate in vitro into three germ layers and retained the disease-causing SGCB mutation. This iPSC line represents an ideal source of cells for the investigation of LGMD disease mechanisms.