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.
Background: The COVID-19 infection is a more recent pandemic disease all over the world and studying the pulmonary findings on survivors of this disease has lately commenced.
Objective: We aimed to estimate the cumulative percentage of whole radiological resolution after 3 months from recovery and to define the residual chest CT findings and exploring the relevant affecting factors.
Subjects and Methods: Patients who had been previously diagnosed with COVID-19 pneumonia confirmed by RT-PCR test and had radiological evidence of pulmonary involvement by Chest CT during the acute illness were included in the present study. The radiol
... Show MoreBackground: The etiology of Systemic lupus erythematosus seems to be multifactorial including environmental as well as genetic factors. The genetic predisposition was supported by the occurrence of Systemic lupus erythematosus in more than one member of a family as well as in identical twins.
Aim of the study: To determine the human leukocyte antigen typing class I (A and B) in patients with Systemic Lupus Erythematousus disease.
Methods: Patients group consisted of 44 Iraqi Arab Muslims patients with Systemic lupus erythematosus disease who presented to Baghdad Medical City from January 2010 to January 2012 from Baghdad Province. The second control group consisted from 80 Iraqi Arab Muslims volunteers from hospital employees and t
Polycystic ovary syndrome (PCOS) is a prevalent condition in women of reproductive age. It is characterized by androgen excess and chronic anovulation. Some trace elements, macroelements, and heavy metals have been linked to pathophysiological mechanisms of PCOS .
To study the alterations in the serum levels of the trace element manganese (Mn), some macroelements, magnesium(Mg) and calcium (Ca), and the heavy metals cadmium (Cd) and lead (Pb), in obese and non-obese PCOS patients; and the association of these alterations with some of the hormonal changes occurring in PCOS.
The study was carried out at Kamal Al-Samarrai Hospital (Center for Infertility treatment and in vitro Fertilization "IVF") Baghdad- Iraq. Eig
... Show MoreThe traditional city suffers from the decline of the urban image due to urban development and homogeneity with the urban context of the city, and because of the lack of determinants governing the urban image, it is that the center of the city of traditional Kadhimiya suffers from a break in the urban image, Therefore, the research included how to build a distinctive urban image of the center of the traditional city of Kadhimiya and achieve the visual pleasure and comfort of the recipient and the urban image here means is an image not picture which are related to several aspects, including physical, social and psychological as well as the collective memory of individuals and their rela
The phenomenon of informal building Spread recently in Iraqi residential areas, in general, and in Baghdad, in particular, due to the urgent housing need, on the one hand, and lack of commitment to building controls, on the other hand, to highlight the phenomenon of uncommitted building to controls and housing governing legislation in Iraq, leading to heterogeneity in both building densities and plot areas, and disorder in the urban fabric and urban escape of those areas. Research problem identified as the absence of a clear vision about the General aspects of the phenomenon of informal building in residential street scene, and the role of designed housing projects as a substitute for informal building in built residential areas. The des
... Show MoreBackground: Chronic kidney disease is a gradual loss of kidney function with diabetes and hypertension as the leading cause. Chronic kidney disease is one of these systemic diseases that can affect salivary contents. Aims: This study aimed to assess salivary immunoglobulin A, interleukin-6 and C- reactive protein in chronic kidney disease patients on hemodialysis and those on conservative treatment in comparison with control subjects. Materials and methods: Ninety subjects were included in this study divided into three groups: 30 patients with chronic kidney disease on hemodialysis for at least 6 months ago; 30 patients with chronic kidney disease on conservative treatment and 30 healthy control subjects. Secretory immunoglobulin A, inte
... Show MoreIn Iraqi patients with acromegaly the present investigation included 40 control group and 70 patients with acromegaly divided 35 patients with Diabetic while another 35 patients without Diabetic, with ages between (29-72) years for the identification of GST activity polymorphisms by present and absent GSTM1, GSTT1, and PCR-RFLP, enzymatic digestions were carried out using BsmAI (Biolabs. England, UK) for GSTP1b and AciI (Biolabs, England, UK) for GSTP1c.the association GSTActivity with GST genotype were investigated in a cohort of Iraq acromegaly patients comparing with the healthy control group. The results show a non-significant change in GSTP1b gene in both groups, while show high significantly in GSTP1c in diabetic and non-diabetic acro
... Show MoreBackground: The present study aimed to assess the distribution, prevalence, severity of malocclusion in Baghdad governorate in relation to gender and residency Materials and Methods: A multi-stage stratified sampling technique was used in this investigation to make the sample a representative of target population. The sample consisted of 2700 (1349 males and 1351 females) intermediate school students aged 13 years representing 3% of the total target population. A questionnaire was used to determine the perception of occlusion and orthodontic treatment demand of the students and the assessment procedures for occlusal features by direct intraoral measurement using veriner and an instrument to measure the rotated and displaced teeth. Results a
... Show MoreBacteria could produce bacterial nanocellulose through a procedure steps: polymerization and crystallization, that occur in the cytoplasm of the bacteria, the residues of glucose polymerize to (β-1,4) lineal glucan chains that produced from bacterial cell extracellularly, these lineal glucan are converted to microfbrils, after that these microfbrils collected together to shape very pure three dimensional pored net. It could be obtained a pure cellulose that created by some M.O, from the one of the active producer organism like Acetic acid bacteria (AAB), that it is a gram -ve, motile and live in aerobic condition. The bacterial nanocellulose (BNC) have great consideration in many fields because of its flexible properties, features
... Show MoreBackground: Studies discussing the correlation between biochemical markers of bone turnover and the diagnosis of osteoporosis in postmenopausal Iraqi women are rare. This study is devoted to find out the significance of serum osteocalcin (OC) and osteopontin (OPN) levels with the incidence of osteoporosis and its major complication (fracture).Objectives: to investigate the significance of bone turnover biochemical markers; serum osteocalcin and serum osteopontin in evaluating osteoporosis for postmenopausal Iraqi women with and without history of vertebral fracture, as well as to explore the relationship of these markers with bone mineral density (BMD).Methods: Fifty seven postmenopausal women whose ages are fifty years old and over, cat
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