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.
Background: Cell adhesion molecules are protein entities that are located on the cell surface. The vascular cell adhesion molecule-1 (VCAM-1) and intercellular adhesion molecule-1 (ICAM-1) expression is related to type 2 diabetes mellitus (T2DM) with dyslipidemia. Objectives: To determine the levels of VCAM-1 and ICAM-1 in T2DM patients with dyslipidemia and to explore the relationship between VCAM-1 and ICAM-1 and the development of dyslipidemia in T2DM patients. Patients and methods: The study included 150 individuals with an age range of (35-55) years. Patients with diabetes for more than 5 years were excluded. Fifty healthy individuals constituted Group 1 (G1), fifty patients with T2DM constituted Group 2 (G2), and fifty T2DM p
... Show MorePapillary thyroid carcinoma (PTC) represents the most prevalent kind of thyroid gland cancer, making up around 80% of all occurrences of thyroid cancer. Evidence shows that Syndecan-1 (SDC-1) expression is lost in a number of benign and malignant epithelial neoplasms, although its expression profile in thyroid gland neoplasms is yet unknown. Therefore, the aim of this study was to assess SDC-1 expression in papillary thyroid carcinoma patients, as well as the relationship between age and gender and SDC-1 expression. To undertake a detailed investigation of SDC-1 in normal and malignant tissues, tissue sections were used to examine SDC-1 expression in 70 tissue samples, 50 distinct PTC (6 males and 44 females) and 20 normal tissue ty
... Show MoreIntroduction: With the advent of era of targeted cancer therapy, the serious side effects of chemoradiotherapy have been minimised. Considering the success story of anti-HER2/neu drugs in breast cancer oncology, the present study was conducted. The study evaluates the immunohistochemical expression of HER2/neu in endometrioid cancer among Iraqi patients. Aim: To assess the immunohistochemical expression of HER2/neu in endometrioid carcinoma of uterus and to find the relationship of this expression with FIGO stage and grade and with patient age. Materials and Methods: In this cross sectional study, formalin-fixed, paraffin-embedded tissue blocks of 62 hysterectomy specimens that were diagnosed as endometrioid carcinoma in the teaching labora
... Show MoreInsulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes (T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences. This study aimed to find the relationship between Glycated hemoglobin (HbA1c) and lipid profile components in T2DM patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in Medical City in Ba
... Show MoreInsulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes (T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences. This study aimed to find the relationship between Glycated hemoglobin (HbA1c) and lipid profile components in T2DM patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in Medical City in Baghdad be
... Show MoreCollagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlation be
... Show MoreThe correlation between dyslipidemia and the severity of coronavirus disease 2019 has been widely categorized. Dyslipidemia is one of the most dominant disorders among these patients. Systemic inflammation accompanied by cytokine storm hemostasis modifications and severe vasculitis have all been reported to occur among COVID-19 patients, and these may contribute to some severe complications.
The aim of this study is to assess the possible relationship between dyslipidemia and the severity of coronavirus disease 2019.
This work encompassed 200
Collagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlati
... Show MoreIn this investigation a high density polyethylene (HDPE) was used as a substitute to polyvinylchloride in the production of lead acid battery separators. This has been achieved by preparing mixtures of different percentages of the feed materials which include a high density polyethylene (HDPE) locally produced, filler materials such as silica and oils such as dioctylphthalate (DOP) or paraffin which were added to the mixture to improve the final properties of the separator. The materials were compounded by two roll-mills under the same conditions. The following parameters are involved: &nb
... Show MoreThe research is summarized in the construction of a mathematical model using the most common methods in the science of Operations Research, which are the models of transportation and linear programming to find the best solution to the problem of the high cost of hajj in Iraq, and this is done by reaching the optimum number of pilgrims traveling through both land ports and the number Ideal for passengers traveling through airports by Iraqi Airways, instead of relying on the personal experience of the decision-maker in Hajj and Umrah Authority by identifying the best port for pilgrim's travel, which can tolerate right or wrong, has been based on scientific methods of Operations Research, the researcher built two mathematical models
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