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.
Psoriasis is a dermatological, chronic, immune-mediated condition. Psoriasis symptoms are not associated with physical burden only, but it may also have psychosocial effects on patients, diminished cognitive control, poor body image and impairments in everyday life. The value of quality of life is important since improving it is the principal goal for non-curative disease. The aim of the current study was to evaluate quality of life in a sample of Iraqi patients with psoriasis. This study is a cross-sectional study that involved 300 already diagnosed psoriasis patients who attended to the center of Dermatology and Venereology, Medical City/Baghdad. The mean age of patients was (35.156 ±10.549 years). The Arabic version of Dermatology Li
... Show MoreBackground: Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosal disorders with a prevalence of 50-66%. The prevalence of hematinic deficiencies including ferritin and vitamin B12 deficiencies and their role in the prophylaxis and development of RAS is not well known. Many studies have demonstrated a high prevalence of hematinic deficiencies in patients with RAS. This study aimed to compare the serum level of ferritin and vitamin B12 in patients with recurrent aphthous ulcers and healthy controls. Subjects, Materials and Methods: The data were collected from patients who needed blood analysis to exclude anemia from November 2020 to May 2021. The study was approved by the institutional ethics committee. After recordi
... Show MoreAfamin, which is a human plasma glycoprotein, a putative multifunctional transporter of hydrophobic molecules and a marker for metabolic syndrome. Afamin concentration have been proposed to have a significant role as a predictor of metabolic disorders. Since NAFLD is associated with metabolic risk factors, e.g., dyslipidemia, insulin resistance and visceral obesity, it is considered as the hepatic manifestation of the metabolic syndrome. The objective of this study is to determine Afamin levels in hypothyroid patients with and without fatty liver disease and compare the results with controls. Also to study the relationship of Afamin level with the Anthropometric and Clinical Features (Age, Gender, BMI and Duration of Hypothyroidism) , Serum
... Show MoreBackground: Myasthenia gravis is an autoimmune disease of the neuromuscular junction that results in fluctuating muscle weakness as well as significant fatigue. Disease exacerbation is a critical condition, and the predisposing factors for it need to be identified to improve preventive measures.
Objectives: Our study aims to determine the predisposing factors for myasthenia gravis exacerbations in a group of Iraqi patients.
Subjects and Methods: A total number of 30 myasthenia gravis patients were admitted to the hospital with an exacerbation of their symptoms, determined as the development of functional disability, dysphagia, or respiratory fai
... Show MoreAcromegaly is a rare disease produce generalize and serious alteration in the patient with active disease. Many of these patients are also diabetic. Many analytes, hormones, markers are change in these disease. The objective of study is to assess the modification in a number of parameters that changed during the acromegaly as a result of excess in GH and IGF1 levels. The study included 36 patients and 38 healthy controls, paired by sex and age and BMI. Serum concentration of GH and the other parameters including (insulin, glucose, lipid profile, uric acid ) were determined by biochemical method .Compared to controls, acromegalic patients had increased levels of GH, insulin, glucose, triglyceride, very low density lipoprotein(VLDL) (p<0.05)
... Show MoreAnemia of chronic disease (ACD) and iron deficiency anemia (IDA) are the two most important types of anemia in rheumatoid arthritis (RA). Functional iron deficiency in ACD can be attributed to overexpression of the main iron regulatory hormone hepcidin leading to diversion of iron from the circulation into storage sites resulting in iron-restricted erythropoiesis. The aim is to investigate the role of circulating hepcidin and to uncover the frequency of IDA in RA. The study included 51 patients with RA. Complete blood counts, serum iron, total iron binding capacity, ferritin, and hepcidin- 25 were assessed. ACD was found in 37.3% of patients, IDA in 11.8%, and combined (ACD/IDA) in 17.6%. Serum hepcidin was higher in ACD than in con
... Show MoreInformation pollution is regarded as a big problem facing journalists working in the editing section, whereby journalistic materials face such pollution through their way across the editing pyramid. This research is an attempt to define the concept of journalistic information pollution, and what are the causes and sources of this pollution. The research applied the descriptive research method to achieve its objectives. A questionnaire was used to collect data. The findings indicate that journalists are aware of the existence of information pollution in journalism, and this pollution has its causes and resources.
Background: Parenteral nutrition (PN) is a life‑saving intervention for neonates who are unable to meet their nutritional requirements through enteral feeding. Despite its essential role, PN is frequently associated with metabolic, electrolyte, and hepatobiliary complications. Objective: To evaluate the frequency and pattern of metabolic, electrolyte, and hepatobiliary complications associated with PN administration in neonates. Methods: A prospective case-series study was conducted in two tertiary neonatal intensive care units (NICUs) in Baghdad, Iraq. Term and preterm neonates who received PN for at least five days were included. PN‑related metabolic, electrolyte, hepatobiliary, and hematological complications were recorded an
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