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.
Gastritis can be defined as histological inflammation of the gastric mucosa. It can be classified according to the time course of the disease as acute or chronic, histological findings, anatomic location, and pathological mechanisms. The objective of this study was to evaluation of serum levels of the proinflammatory cytokines IL-8, IL-17 and IL-22 in Helicobacter pylori infection and their association with the degree of gastritis histopathology in a sample of Iraqi patients. The case-control prospective study consists of 60 patients who attended the Gastrointestinal Tract Center at Al-Kindy Teaching Hospital during the period from December 2019 to April 2020. In addition, the control group included 60 apparently healthy individuals. Bio
... Show MoreBackground: The aim of the present study is to evaluate the esthetic smile in sample of Iraqi adults and to assess the gender differences. Materials and Methods: 100 persons (50malesand 50 females had class I normal dental and skeletal selected for this study.Clinical examination and digital photograph with posed smile were performed for each individual. Six linear soft tissue parameters in each photograph using AutoCAD program 2011. Five visual and four quantitative evaluations of the smile were studied for eachsubject. The smile arch and index, buccal corridor spaces (BCSs) were studied.Descriptive statistics of the measurements were calculated. Independent student’s ttestswere used to evaluate the gender differences. Statistics: Desc
... Show MoreIntroduction: Dental fear is defined as the patient’s specific reaction towards stress related to dental treatment in which the stimulus is unkn..
Background: Tubal ligation, recognized as a surgical intervention that ensures permanent contraception, has established itself as an option for women seeking a definitive solution for family planning. Objective: To assess the psychosexual implications of tubal ligation in a sample of women in Baghdad, Iraq. Methods: A prospective cohort study was conducted in a teaching hospital for 2 years, from the first of January 2022 to the end of December 2023, in which 203 women who underwent tubal ligation were included. Results: In the present study, we found that 158 (77.8%) had no depression, mild depression presented in 27 (13.3%), and moderate depression in only 15 (7.4%). While 163 (80.3%) of women did not suffer from anxiety, 32 (15.8
... Show MoreBackground: A Catheter-associated with candidiasis infection is the most common nosocomial infection and the objective of this work is to isolate and identify Candida species from catheterized patients by ordinary culture and PCR.Objective:To study the isolation and identification of Candida species from catheterized patients by culture media and polymerase chain reaction(PCR).Methods: One hundred and thirty five Candida species isolates were obtained from urine culture of catheterized specimens from male and female patients , During the period between October 2011 to April 2012 , attending AL-Ramadi general teaching Hospital. A quantitative urine culture for isolation and identification of Candida species was. The isolation of Candida s
... Show MoreMedia is one of the main and effective factors; and it is a tool of crisis management equipment. Media is one of the most dangerous, effective and decisive weapons in modern conflicts; a tool for making events and influencing their events and trends as a means of reporting as the enormous capabilities of media which help media to move very quickly, and cross borders; and overcome obstacles, through many means of audio, reading and visual. As its ability, moreover, to influence the psychological and intellectual control of communities, and behaviors.
Intelligent media is, then, used in crises management and coverage. Crises have been existed with the presence of man on Earth. Thei
... Show MoreBackground: Obesity represents a clear and
present danger to the health of children and
adolescents. Its prevalence among American
youth has doubled in the past 3 decades, and
there are now more overweight and obese
adults in the United States than adults of
normal weight.
Objectives of the study:
1- Finding whether screen watching among
adolescents has an effect on increasing
prevalence overweight and obesity.
2- The effect of other variables like physical
activity, eating in front of screen, eating under
stress on obesity and overweight among the
subjects sample.
Patients &Methods: During 3 months period a
cross sectional survey was conducted on 4
high schools at Baghdad with total
There are numerous bidirectional interactions between the reproductive system and the liver. Sex steroids regulate metabolic health through signaling effects in both peripheral and central metabolic tissues, including adipose tissue, liver, skeletal muscle, and brain, and have a role in the etiology of structural and functional liver diseases. Blood samples were obtained from 90 healthy women (control group) and 90 women that have hormonal changes (patients’ group). The levels of reproductive hormones (follicle stimulation hormone/FSH, luteinizing hormone/LH, estradiol/E2, progesterone/P4) were measured by using fully automated Cobas E411, whereas those of liver enzymes (alanine transaminase /ALT, aspartate aminotransferase/AST, a
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