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.
Globally, 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: The main objective was to compare the outcome of single layer interrupted extra-mucosal sutures with that of double layer suturing in the closure of colostomies.
Subjects and Methods: Sixty-seven patients with closure colostomy were assigned in a prospective randomized fashion into either single layer extra-mucosal anastomosis (Group A) or double layer anastomosis (Group B). Primary outcome measures included mean time taken for anastomosis, immediate postoperative complications, and mean duration of hospital stay. Secondary outcome measures assessed the postoperative return of bowel function, and the overall mean cost. Chi-square test and student t-test did the statistical analysis..
Resu
... Show MoreNew schiff bases series (VIII) a-e and 1,3-thiazolidin-4-one derivatives (IX) a-e containing the 1,2,4-triazole and 1,3,4-thiazazole rings were synthesized and screening their biological activities. These compounds were identified via Fourier transform infrared (FT-IR) spectra, some via Proton nuclear magnetic resonance (1H-NMR) and mass spectra. The biological results indicated that all of these compounds did not reveal antibacterial effectiveness against (Escherichia coli and Klebsiella species) (G-). Some of these compounds showed moderate antibacterial activity against (Staphylococcus aureus, and Staphylococcus epidermidis) (G+), and all compounds exhibited moderate activity against Candida albicans.
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Declaration has become today has an important and active and influential role in the recipient public life، and are concentrated advertising on the creativity component manufacture to attract his attention toward what to be announced from a variety products، and is dominated by television commercials tempo and imagination، and display them a variety of ways catches the attention and an impressive simulates the their senses of hearing and sight، to influence in the receiver and the public paid for purchase. Through it crystallization the subject of our research on the importance of creativity in television advertising and effective for attracting the attention of the publi |
The US invasion of Iraq in 2003 unleashed the repressed national aspirations of the Kurdish people. After the colonial powers, especially Britain, failed to establish a homeland of scattered Kurds in Iraq, Turkey, Syria and Iran, Iraq's Kurds managed to establish a semi-independent state in the north of the country Which lasted decades against the central authority in Baghdad in protest against what they call the forced integration of Kurds in the Iraqi state, and to obtain more rights and privileges as partners in this country. The federal region in the Kurdistan region of Iraq has become a reality, and it is eager not to strengthen its authority in return for the authority of the central government, but to annex other areas inhabited b
... Show MoreIn the present study, the aim was made to identify the relationship between thyroid autoimmunity (TAI) and female infertility. The study was performed on 30 infertile women and 22 age-matched healthy fertile control age (33 ± 5 years). Overall, serum prolactin (PRL), thyroid stimulating hormone (TSH) assay is the key test for the diagnosis and management of hypo and hyperthyroidism. Anti-TPO Ab and anti-TG Ab were measured. The mean ± SE of serum PRL (31.080 ± 3.06) ng/ml was significantly (P<0.05) higher in infertile group compared with control (16.191±1.36) ng/ml. Serum TSH was significantly (P<0.05) higher in infertile group (5.689 ± 1.12) µIU/ml compared to control group (2.282 ± 0.18) µIU/ml. The prevalence of positive
... Show MoreThe influence of culture on accounting systems and practices, including financial reports and accounting information through the values identified by Gray and derived from social-cultural values, and the four accounting values were derived from generally accepted accounting principles represented by (Conservatism, Uniformity, Secrecy, and Professionalism). Important and significant in maximizing financial performance, and measuring the extent of the role of these values in improving financial performance through attention to the values of accounting culture, this research
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