Objectives Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by the age of onset, symptomatology, and the rapidity of disease progression. The diagnosis of ASMD can be delayed or missed because of the wide spectrum of severity and its variable manifestations. Analysis of genotype-phenotype correlations can help to determine ASMD disease type and inform management. Here, we describe the clinical presentation of 47 patients with ASMD referred to a single center in Iraq since 2007, whose diagnosis was confirmed by gene sequencing and ASM activity. Study design This was a retrospective observational cohort study of patients diagnosed with ASMD in Iraq. Results The cohort included 47 patients with ASMD. A positive family history and consanguinity were noted in 66% and 98% of these cases, respectively. Hepatosplenomegaly, anemia, and thrombocytopenia were present in 100%, 79%, and 44% of patients, respectively. Notably, dysmorphic features were observed in 23% of cases. Thirteen SMPD1 variants were present in this cohort, the most common of which were c.1556A > G (p.Tyr519Cys), c.740delG (p.Gly247Alafs*10), c.967A > C (p.Ser323Arg), and c.1267C > T (p.His423Tyr). Three of the variants identified were novel, specifically c.967A > C (p.Ser323Arg), c.1579A > G (p.Asn527Asp), and c.905C > T (p.Thr302Ile). Conclusions Physicians assessing infants and children who present with hepatosplenomegaly or anemia and dysmorphic features should have a high index of suspicion for ASMD, particularly in regions with high rates of consanguineous unions.
Diabetic kidney disease is an illness of the glomerulus that interferes with the glomerular filtration barrier (GFB), which is worked to enable kidney to selective purification of water and solutes in addition to limiting the movement of large macromolecules such as albumin. In the glomerular endothelium, mesangial cells, foot cells, and the brush border of the proximal tubules, ACE-2 is expressed and that the kidneys represent the highest-expressing region of this enzyme. Thus, the current study aimed to evaluate ACE-2 level in this case compared to healthy condition. The study Conducted with 120 male and female ranging in age (30-65) years old. Ninety patients with type 2 diabetes subdivided into three groups on the basis of A
... Show MoreBackground: While two-thirds of breast cancers express hormone receptors for either estrogen (ER) and/or progesterone (PR) , genetically altered PI3K pathway was found in more than 70% of ER-positive breast cancers.An aberrant activity of cyclin-dependent kinase 1 (CDK1) in a wide variety of human cancers has selectively constituted an attractive pharmacological targets in MYC-dependent human breast cancer cells.
Aim of the study: Role of p110-beta as well as and CDK 1 in the pathogenesis of subset of breast cancers and contribution in their carcinogenesis.
Type of the study: is a retrospective study
Methods: This retr
... Show MoreBackground: Diabetes mellitus (DM) could be regarded as a set of chronic metabolic disorders which have a common aspect of hyperglycemia. The resistance in the peripheral actions of insulin or impaired insulin secretion could be the reason hepcidin which is a peptide hormone derived from liver, in systemic iron homeostasis is an essential regulator, and its lopsided production participates in the pathogenesis of iron disorders in spectrum. Osteoporosis often accompanies many diseases like ß-thalassemia, hemochromatosis, sickle liver diseases, cell disease and hemosiderosis featured by iron overload, evidences suggest that Iron overload and iron deficiency are suggested by evidences that they affect bone in a negative way, acting
... Show MoreBackground: Many structural or functional abnormalities can impair the production of thyroid hormones and cause hypothyroidism.Objectives: to identify the main etiological causes of hypothyroidism among patients visiting Specialized Center for Diabetes and Endocrinology.Methods: This study was conducted in the Specialized Center for Diabetes and Endocrinology on 217 patients with proved hypothyroidism, from 2006 to 2008. Every patient was tested with thyroid function tests, Ultrasound examination, thyroid autoantibodies, fine needle aspiration, radiology of skull, isotopes scan, also checking adrenal and gonadal function. Results: Out of these 217 patients 120 patients have thyroiditis 33 patients had been undergone thyroidectomy. 39 pat
... Show MoreContext: The ability of implant dentistry to be a successful alternative for edentulous patients has increased in the last decade. Clinical features such as osseointegration and stability, in addition to the endurance of the integration urged the researchers towards a better understanding of the design parameters that control long term success of the implants. It is therefore necessary to quantify the effect of changing implant design parameters on interface stress distribution within the maxilla bone. Methods and Materials: A 3D-finite element study was conducted to investigate the effect of changing implant shape parameters (implant body design and implant thread depth) on stress distribution while insertion of the implant in two diff
... Show MoreBackground: The problem of difficult gallbladder is not clearly defined and associated with real missing of therapeutic approaches that decreased morbidity. Moreover, the difficult gallbladder was reported as a contributing risk factor for biliary injury due to raised difficulty in surgical dissection within Calot’s triangle. The aim of this study is to determine the surgical outcomes of the open fundus-first cholecystectomy in lowering the rate of lethal intraoperative risks.
Subjects and Methods: Our prospective study conducted during the period of January 2019 to December 2022 at Ibn Sina specialized hospital, Khartoum, Sudan, for two hundred and fifty-three patients underw
... Show MoreA fracture is a damage to bone tissue that causes damage to the tissue surrounding the bone and may penetrate the skin. Subjects and methods: the present study included (80) fractured Iraqi patients (and 40) patients with DM2 and (40) without DM2 and compared them with (40) healthy control. Patients and control are matched in age. This study showed a significant increase in retinol-binding protein 4 (RBP4) and a considerable decrease in Vit .A GPT and GOT in fracture patients with and without DM2. In addition, there was a significant negative correlation between RBP4 with (GPT and GOT) in fracture patients with DM2 and a significant positive correlation between RBP4 with (GPT and GOT) in fracture patients without DM2.
... Show MoreBreast cancer is the most common malignancy in female and the most registered cause of women’s mortality worldwide. BI-RADS 4 breast lesions are associated with an exceptionally high rate of benign breast pathology and breast cancer, so BI-RADS 4 is subdivided into 4A, 4B and 4C to standardize the risk estimation of breast lesions. The aim of the study: to evaluate the correlation between BI-RADS 4 subdivisions 4A, 4B & 4C and the categories of reporting FNA cytology results. A case series study was conducted in the Oncology Teaching Hospital in Baghdad from September 2018 to September 2019. Included patients had suspicious breast findings and given BI-RADS 4 (4A, 4B, or 4C) in the radiological report accordingly. Fine needle aspirati
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