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.
Aim: To learn more about Oral Lichen Planus Iraqi patients, including their background information, symptoms, and prognosis. Materials and Methods: From the Oral and Maxillofacial Pathology Department, College of Dentistry, Baghdad University, we retrospectively reviewed the medical records of 68 patients with a histologically confirmed clinical diagnosis of oral lichen planus and subsequently contacted the patients by phone to evaluate their prognosis. Results: Females were more likely than males to experience severe pain; the reticular form of Oral Lichen Planus was the most prevalent at 38.2%, but the erosive type was more prevalent among females. Only 53 of 68 patients responded to phone calls. More than 37% of those respondents reporte
... Show MoreGlobally, iron deficiency anemia is a problematic nutritional deficiency health-related issue that impacts early-adulthood people such as university students. The aim was to asses female nursing students’ knowledge concerning iron deficiency anemia in the College of Nursing, University of Baghdad.
A cross-sectional survey was carried out from the period of June 18, 2023 to December 20, 2023. Nonprobability (purposive) samples of 100 female nursing students were selected from the second, third, and fourth stages in the College of N
Background: Despite the fact that asthma is a long-term disease that may be treated, many people are unable to control their symptoms due to a lack of knowledge about their condition. The study's purpose was to find out if a pharmacist intervention improved asthma management because of this.
Objective: this study designed to assess the effect of pharmaceutical care on pulmonary functions test.
Method: The study was completed in three months. The patients who were enrolled were divided into two groups: Group 1 consists of 23 asthma patients who were randomly assigned to receive conventional therapy for chronic bronchial asthma based on disease stage and se
... Show MoreAPDBN Rashid, Review of International Geographical Education Online (RIGEO), 2021
The aim of the research is to shed light on the stages of developing the Iraqi virtual science Library(IVSL) project, and to define its distinctive role in providing all kinds of electronic resources to researchers from professors and graduate students, to identify its contents , the entry interfaces and applications of use, and provide them through electronic portals to publishing houses, research institutions and international universities, The research sample included the teaching staff and researchers participating in educational qualification courses at the Continuing Education Center at the University of Baghdad, The research population and its sample consisted of the category of (IVSL) users, and its sample (387) users. Analysis meth
... Show MoreToxoplasmosis is a widespread infection usually caused by Toxoplasma gondii (T. gondii) parasite. It occurs in humans and other warm blooded animals, causing severe problems. It was found that there is an alteration in the trace elements concentrations levels associated with some human diseases. This study aimed to investigate the changes in the concentrations of some trace elements (Mg, Fe , Zn, and Cu) in the sera of 60 immunocompetent patients with chronic toxoplasmosis and 82 healthy individuals as a control group. Measuring the serum level of seropositivity rate of anti-T. gondii antibodies was done by Enzyme Linked Immunosorbent Assay (ELISA) Kit, while the concentrations of trace elements were measured by absorption spectrophotometry
... Show MoreThe practice of self medication is continuously increasing worldwide due to its important roles in curing minor conditions or symptoms. This study was conducted to evaluate the factors associated with self medication practice of Iraqi respondents residing in Baghdad City. This study was designed as cross sectional study in which data was collected via direct interviews with respondents using a previously prepared questionnaire. This study investigated 348 respondents from different age groups. The majority of respondents were male aged between 30-60 years, married with secondary or academic level of education and employed with accepted monthly income. The main reason for practicing self medication was previous experience with the same condi
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