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: H.pylori colonized gastric mucosal
epithelium will virtually develop gastritis and had the
capacity to persist for decades. Pathogenesis is
dependent upon strain, virulence host genetic
susceptibility, and environmental cofactors. Leptin is
a member of the class 1 cytokine family so altered
leptin production during ifnect and inflammation that
leptin part of the cytokine cascade ,which
orchestrates the defense mechanism.
Objective: Examin the effect of H.pylori infection
on serum leptin level.
Methods: One hundred and thirty(130) Patients
attending the Endoscopic Unit at "Gastroenterology
and Hepatology Teaching Hospital/ Baghdad Medical
City"were included in this study with ages rang
This study focused on the improvement of the quality of gasoline and enhancing its octane number by the reduction of n-paraffins using zeolite 5A. This study was made using batch and continuous mode. The parameters which affected the n-paraffin removal efficiency for each mode were studied. Temperature (30 and 40 ˚C) and mixing time up to 120 min for different amounts of zeolite ranging (10-60 g) were investigated in a batch mode. A maximum removal efficiency of 64% was obtained using 60 g of zeolite at 30 ˚C after a mixing time 120 min. The effect of feed flow rate (0.3-0.8 l/hr) and bed height (10-20 cm) were also studied in a continuous mode. The equilibrium isotherm study was made using different amounts of zeolite (2-20 g) and the
... Show MoreBack ground: Oral isotretinoin is recommended
for sever nodulocystic acne in the doses 0.5-
2mg/kg/day which is usually associated with higher
incidence of adverse effects. To reduce the
incidence of side-effects and to make it more costeffective,
the lower dose regimen of isotretinoin has
been used.
Aim: To compare the efficacy and tolerability of
oral isotretinoin 10mg and 20mg/day in acne
vulgaris.
Methods: one hundred and twenty patients with
acne vulgaris were randomized into two treatment
regimens each consisting of 60 patients. The first
was treated with 10mg/day and the second group
with 20mg/day for 24 weeks. Fifty five patients
from the first group and 47 patients from the second
Dialogue is one of the pillars of character building in the television series, through which it is possible to identify the most important characteristics and traits of the personality, in addition to its ability to reveal the most important problems at all levels. The following: (How does dialogue contribute to enhancing the traits of the alienated personality?). It therefore aims to identify the effectiveness of the dramatic dialogue in enhancing the traits of the alienated personality represented by (powerlessness, isolation, meaninglessness, objectification, non-standardization and rebellion). (The traits of the alienated character, and the second is the psychological function of the dramatic dialogue), to extract from them the main
... Show MoreDengke Naniura is a traditional food from Sumatera Utara, Indonesia, that is produced through fermenting process, and this food is believed to contain high probiotics. The objective of the current research is to determine the potential of LAB as a probiotic that has been obtained from Dengke Naniura. Dengke Naniura was traditionally prepared from Cyprinus carpio. Four LABs have been successfully isolated from Dengke Naniura, such as D7DA3, D7B3, D7DBF and D7DN3. Those four LAB isolates were identified as Lactobacillus sp. This result has been confirmed by the non-spore forming bacterium, non-motile, and Gram-positive. Also, it has been supported by biochemical test, for the example Voges Proskauer, catalase test, Methyl
... Show MoreThe focus of this research revolves around the importance level of sialic acid in the reasoning of cases, including tumors and then evaluate the patient's response to treatment and its impact on the immune response there are a lot of evidence showing that parts Alkrbu ???????? in peptides sugary and glycoproteins play an important role in Alfalitin life and responsiveness
Perchloroethylene (PERC) is commonly used as a dry-cleaning solvent, it is attributed to many deleterious effects in the biological system. The study aimed to investigate the harmful effect associated with PERC exposure among dry-cleaning workers. The study was carried out on 58 adults in two groups. PERC-exposed group; include thirty-two male dry-cleaning workers using PERC as a dry-cleaning solvent and twenty-six healthy non-exposed subjects. History of PERC exposure, use of personal protection equipment (PPE), safety measurement of the exposed group was recorded. Blood sample was taken from each participant for measurement of hematological markers, liver and kidney function tests. The results showed that 28.1% of the workers were usin
... Show MoreThe avian esophagus shows structural and functional differences related to feeding habits and habitat, with mucous secretions and amino acids playing key roles in protection and metabolism. The present study aimed to comparatively investigate the histological, histochemical, and amino acid profile characteristics of the cervical esophagus in the Iraqi pin-tailed sandgrouse (Pterocles alchata) and the red-wattled lapwing (Vanellus indicus). A total of eight adult individuals from each bird species (sandgrouse and lapwing) were collected from the Al-Samawah Desert, Al-Muthanna Province, and AlYusufiyah District, Baghdad Governorate, Iraq, respectively, between October 2025 and January 2026. Histological examination was performed using hematox
... Show MoreIn our research, we seek to shed a light on one of the most important and sensitive issues, namely, the Sufi influence in the Iraqi novel through the lame maqam of the novelist Jumaa Al-Lami, the Sufi discourse contains many semantic paradoxes between the text's apparent pronunciation and its interpretation of the format and the context that produced these patterns, and incited them, which concludes different results from the prevailing provisions and fixed ideas from the narrative text.The Arabic and Iraqi novel in particular became inspired by the power of Sufi discourse by talking about several Sufi figures by referring to it openly, or implicitly inspired by unauthorized concealment, in employing some of the ideas, or summoning
... Show MoreThe novel has recently received great attention from readers and before them writers, due to the role it is playing, and this indicates an important rule, which is whenever there is art or creativity, there must be a criticism of its own, and this criticism is certainly no less important than its owner, so we find There are critics who have their distinguished literary position in following up the narrative development, and trying to describe the transformation of its elements, including Professor Fadel Thamer, and whoever wants to approach an element of the novel as an explorer, he must stand on the visions of this critic about it, and this is what made us take the element (personality) Tracking the most important opinions of the critic
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