Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
Background: Treatment modalities of acromegaly and disease control impact differently on glucose homeostasis and lipid changes, and consequently on cardiometabolic risk. Aim: To investigate the possible association of lipid profile changes with the glycemic control status in acromegaly patients treated with octreotide LAR. Methods: This cross-sectional study included 52 Iraqi patients with acromegaly treated with octreotide LAR and not using statins. Demographic, anthropometric, and clinical data were collected, as well as the duration of Octreotide LAR administration. The glycemic state was assessed and classified as DM, prediabetes, or normal. Plasma levels of triglycerides, LDL cholesterol, HDL cholesterol, and non-HDL were evalu
... Show MoreRecently on the dermatological fields, the serum levels and the roles of Zn, Cu and Mg have been studied especially in acne vulgaris, but the results were controversial. The aim of the present study is to investigate a relationship between the severity of acne and the serum levels of zinc (Zn), copper (Cu) and magnesium (Mg) and to demonstrate the status of serum levels of zinc, copper, and magnesium in Iraqi male patients with acne vulgaris and to compare it with those of healthy controls.This case controlled study was conducted in the Department of Dermatology and Venerology and in the Poisoning Consultation Center of Baghdad Teaching Hospital between May 2009 to January 2010. Forty- five male patients with acne vulgaris, their a
... Show MoreThe current study aimed to ascertain the levels of matrix metalloproteinase-12 (MMP-12) and Lysyl oxidase (LOX) in osteoporosis patients and their correlation with alkaline phosphatase (ALP), magnesium (Mg), vitamin D (Vit D), calcium (Ca), phosphorus (P), and T-score %. 110 participants recruited from Baghdad Teaching Hospital, Iraq, were enrolled in this study from November 2019 to March 2020). The participants were divided into two groups: Group 1 comprised 60 osteoporotic women and group 2 consisted of 50 healthy women. (MMP and LOX) were estimated using a quantitative enzyme-linked immunosorbent assay (ELISA. The results showed significant differences in serum LOX, age, ALP, Mg, and T-score %, while no significant differences i
... Show MoreThis study accomplished to determine levels of salivary Alpha-Amylase (sAA) in Iraqi children with positive family history of hypertension, Hypertension was believed to be a risk factor in 18% of all deaths in 2010 (9.4 million globally). This study included one hundred children from primary school aged 6 to 13 years, with a focus in child welfare and family health history, with an emphasis on close relatives' hypertension reputations, with hypertension close relatives record categories identified by 1st and 2nd relatives, after documenting the full details, the burden was assessed for the children's families. The influence of age is confirmed by a correlation study of our own numbers, which shows a positive correlation. The disparity betwe
... Show MoreThe prevalence of diabetes is increasing rapidly and is now recognized as a significant global health problem. Diabetes occurs when a person does not produce enough insulin due to an imbalance in insulin production. This can lead to the failure of organs and tissues such as the kidneys, heart, blood vessels, eyes, nerves, and kidneys. As a result, early diagnosis and classification of type 2 diabetes mellitus (T2DM) are critical to aiding physician assessments. Subsequently, the current study aims to determine irisin levels in patients with T2DM and pre-DM as early predictors for disease cases. The current study included 138 subjects divided into three groups based on fasting blood glucose (FBG) and glycosylated hemoglobi
... Show MoreAbstract:
Background: Retinol binding protein 4 (RBP4), an adipokine that participate in a lipid metabolism or insulin resistance through a complex regulatory network. Recently, RBP4 was reported to be associated with many cardiovascular diseases (CVDs) risk factors in patients of type 2 diabetes mellitus (T2DM). This study aims to study the correlation of serum RBP4 with some markers of glycemic control, dyslipidemia, hypertension and obesity in T2DM Iraqi patients.
Subjects and Methods: one hundred fifty participants were enrolled in this coss-sectional study, 120 of participants were T2DM patients and 30 were apparently healthy individuals to serve as control gro
... Show MoreBackground: Diabetic nephropathy (DN) is a significant contributor to end-stage renal failure in individuals with type 2 diabetes mellitus (T2DM). Diabetic nephropathy is characterized by tubular atrophy, glomerular dilation, glomerulosclerosis, interstitial fibrosis, and proteinuria, resulting in deterioration of kidney function. DN, primarily caused by hyperglycemia, accounts for millions of deaths globally and is the leading cause of end-stage renal disease. Matrix metalloproteinase 10 is an enzyme essential for the breakdown of extracellular matrix constituents. Fetuin-A forms soluble complexes with calcium and phosphate to prevent soft tissue mineralization Objectives: To determine the levels of Matrix Metalloproteinase 10 and
... Show More