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.
Contracaecum rudolphii Hartwich, 1964 is a nematode which causes major concerns to human and wildlife animal’s health. However, the population genetics of C. rudolphii has been poorly studied in Iraq. In order to gain a deeper understanding in the outline of the genetic diversity of the nematode C. rudolphii that were isolated from its host cormorant Phalacrocorax carbo (Linnaeus, 1758), in the middle areas of Iraq, twenty specimens of C. rudolphii adults were isolated from nine individuals of P. carbo. The first (ITS-1) internal transcribed spacers (ITS) of ribosomal DNA (rDNA) of C. rudolphii were amplified using conventional polymerase chain reaction (PCR); then, the amplicons were subjected to sequencing. Concatenation of ITS
... Show MoreContracaecum rudolphii Hartwich, 1964 is a nematode which causes major concerns to human and wildlife animal’s health. However, the population genetics of C. rudolphii has been poorly studied in Iraq. In order to gain a deeper understanding in the outline of the genetic diversity of the nematode C. rudolphii that were isolated from its host cormorant Phalacrocorax carbo (Linnaeus, 1758), in the middle areas of Iraq, twenty specimens of C. rudolphii adults were isolated from nine individuals of P. carbo. The first (ITS-1) internal transcribed spacers (ITS) of ribosomal DNA (rDNA) of C. rudolphii were amplified using conventional polymerase chain reaction (PCR); then, the amplicons were subjected to sequencing. Concatenation of ITS-1 (rD
... Show MoreThis research seeks the effects of dubbed Turkish TV series on Iraqi audiences. The chosen sample is about 600 Iraqi students at Baghdad and al-Anbar Universities. This study consists of four sections: section one deals with the theoretical framework of the study. Section two studies the dubbed Turkish TV series. The third section explores the role of mass media in forming tendencies, and the last section seeks the field study by analyzing the tendencies if Iraqi viewers of these series.
The goal of this study is to know the role these series played in affecting the behavior and attitudes of Iraqi people and how it can change their morals.
The research ends with the number of results like the negative effect of these series on the
The study aimed to clarify the meanings learned and inferred from reading books، letters and messages in Surat Al-Qur’an. The inductive method، the analytical method، and the deductive method، One of the most prominent results of the research: that the multiplicity of Qur’anic readings produces a variety and expansion in the meaning that has a clear impact on the interpretation by clarifying the meaning of the verse.
This study aimed to identidy the role of a professional social worker practice specialist in the field of social care for Corona patients, in light of some demographic variables such as (gender, marital status, economic status,), through a field study at the Iraqi Ministry of Social Affairs. A random sample of (50) social workers in the Iraqi Ministry of Social Affairs in various places affiliated with the ministry was chosen. a questionnaire developed by the researcher about the role of the social worker in the field of social care for Corona patients was administered to the study sample to collect the needed data. The results showed that there is a positive statistically significant correlation relationship at the level (0.01) between
... Show MoreBackground Parkinson’s disease (PD) is currently the fastest-growing neurological disorder in the world. Patients with PD face numerous challenges in managing their chronic condition, particularly in countries with scarce healthcare infrastructure. Objective This qualitative study aimed to delve into neurologists’ perspectives on challenges and gaps in the Iraqi healthcare system that influence the management of PD, as well as strategies to mitigate these obstacles. Method Semi-structured interviews were conducted with neurologists from five different Iraqi provinces, working in both hospitals and private neurology clinics, between November 2024 and January 2025. A thematic analysis approach was employed to identify the main challenge
... Show MoreRepresents the narrative and drama important sources in the serial drama television structure, and the advent of modern narrative techniques within the dramatic structure of the series of television directorial and processors that hired them, form a quantum leap in the level of the emergence of distinct forms of dramatic rely on narrative techniques according to the harmonic fabric is in control of making the form of art. dramatic and running events, but in order to discharge the need to adhere to the basics of drama and adapted within the mediator television capabilities, and narrative to make forms of television series to Atantzm in drift fixed because of the nature of governing structure formalism, this does not mean the existence of
... Show MoreThe current research aims to diagnose the role of social responsibility as a contributing factor in enhancing the quality of services provided by the public sector in Iraq, where the research sought to demonstrate the relationship and impact of social responsibility dimensions (economic, legal, moral, and human) on the sector Services related to the electric field in Nineveh governorate because of its importance and its direct relationship with the citizen especially after the end of military operations in the destruction of the electricity sector by a large percentage in the city of Mosul. Nineveh Electricity Distribution Directorate / Center was chosen as a research community including (administrators and staff) of the research
... Show MoreOne hundred isolates of Pseudomonas aeruginosa were obtained from patients admitted to Baghdad hospitals, Iraq during the period between May 2018 until July 2018. These isolates were distributed as 15 isolates from blood, 25 isolates from urinary tract infections, 10 isolates from sputum, 12 isolates from wounds, 15 isolates from ear infections, 15 isolates from bronchial wash of patients suffering from respiratory tract infections in addition to 8 isolates from cystic fibrosis patients. The isolates were initially identified by culturing on MacConkey agar, blood agar and P. aeruginosa agar then diagnosed by performing some morphological and biochemical tests. The second diagnosis was done by API 20E system followed by Vitek 2 compact syste
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