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: In young adults, multiple sclerosis is a prevalent chronic inflammatory demyelinating condition. It is characterized by white matter affection, but many individuals also have significant gray matter involvement. A double-inversion recovery pulse (DIR) pattern was recently proposed to improve the visibility of multiple sclerosis lesions. Objective: To find out how well a DIR sequence, FLAIR, and T2-weighted pulse sequences can find MS lesions in the supratentorial and infratentorial regions. Methods: A total of 37 patients with established diagnoses of multiple sclerosis were included in this cross-sectional study. Brain MRI was done using double inversion recovery, T2, and FLAIR sequences. The number of lesions was count
... Show MoreThe escalating development of technology is one of the distinctive features of the communication environment in the field of sending and receiving satellite broadcasts of television channels in general and Iraqi satellite channels in particular, which contributed to the wide and rapid spread and reaching outside the drawn boundaries and bypassing even natural obstacles, and what is important in this is the communication content that these broadcasts Channels and its impact on the recipient due to the media, cultural, educational and entertainment content it provides, and in our research we will analyze the communication content of the Iraqi satellite channel by choosing one of its dialogue programs that coincided with the events of the l
... Show MoreAcute appendicitis is one of the commonest causes of acute abdomen. There is a wide discussion and controversy on the surgical and nonsurgical treatment of acute uncomplicated appendicitis. The aim of this study was to evaluate the efficacy and outcomes of the conservative management of selected cases of acute appendicitis with an antibiotic first plan.
This was a single hospital-based prospective study with a durat
The target of this study was to study the natural phytochemical components of the head (capsule) of Cynara scolymus cultivated in Iraq. The head (capsule) of plant was extracted by maceration in70% ethanol for 72 hours, and fractioned by hexane, chloroform and ethyl acetate. Preliminary qualitative phytochemical screening was performed on the ethyl acetate fraction for capsule was revealed the presence of flavonoid and aromatic acids. These were examined by (high -performance liquid chromatography) (HPLC diodarray), (high- performance thin-layer chromatography)(HPTLC).
Flavonoids were isolated by preparative layer chromatography and aromatic acid was isolated by preparative high-
... Show MoreKE Sharquie, SA Al Mashhadani, AA Noaimi, RK Al-Hayani, SA Shubber, Iraqi Postgraduate Medical Journal, 2012 - Cited by 1
This study is designed to isolate and molecular identification of C. neoformans, C. neoformans is pathogenic yeast and effect immunocompromised and immunocompetent. Methods: collect 50 samples from pigeon dropping and 50 samples from pigeon fanciers (sputum). The collection time was extended from November 2021 to February 2022, then culture at SDA, BSA, Cryptococcus Differential agar, esculin agar, Eucalyptus leaves agar media and Brain heart infusion agar with methyldopa, biochemical test including urease test and methyldopa, and then confirm identification by molecular identification by PCR technique sequencing and genetic analysis. The results showed that 3 swaps taken from sputum of human included cryptococcus neoformans and 6 s
... Show MoreAn experiment was conducted in a greenhouse - research station B - College of Agricultural Engineering Sciences, University of Baghdad, during the fall season of 2018 with the aim of propagating and initially studying the field performance of 18 and 20 potential potato lines derived from Rivera and Arizona cv. after in vitro exposure of nodal segments to different dosages of gamma rays (0, 10, 20, and 30 Gray) and EMS (0, 10, 20, and 30 mM). Each control cultivar and their derived lines were independently cultured in plastic bags according to the RCBD, with three replications. The results showed that the highest plant height and number of leaves were obtained from Arizona derived lines which gave 60.11 cm and 25.30 leaves.plant-1 in
... Show MoreFlexible molecular docking is a computational method of structure-based drug design to evaluate binding interactions between receptor and ligand and identify the ligand conformation within the receptor pocket. Currently, various molecular docking programs are extensively applied; therefore, realizing accuracy and performance of the various docking programs could have a significant value. In this comparative study, the performance and accuracy of three widely used non-commercial docking software (AutoDock Vina, 1-Click Docking, and UCSF DOCK) was evaluated through investigations of the predicted binding affinity and binding conformation of the same set of small molecules (HIV-1 protease inhibitors) and a protein target HIV-1 protease enzy
... Show MoreObjectives: To identify the frequency and types of microsatellite instability among a group of sporadic CRC patients and to correlate the findings with clinicopathological characteristics. Methods: During an 8-month period, all patients with sporadic CRC who attended to two teaching hospitals in Baghdad, Iraq were recruited to this cross-sectional study regardless of age, sex, ethnicity, or tumor characteristics. Demographic, clinical, and histopathological features were recorded. DNA was extracted from FFPE-blocks of the resected tumors and normal tissues. PCR amplification of five microsatellite mononucleotide repeat loci (BAT25, BAT26, NR-21, NR-24, and MONO-27) and 2 pentanucleotide repeat control markers (Penta C and Pent
... Show MoreA new series polymers was synthesized from reaction starting material Bisacodyl A or [(2-Pyridinylmethylene) di-4, 1-phenylene di acetate] with hydrogen bromide, then the products were polymerized by addition polymerization from used adipoyl and glutaroyl chloride. The structure of these compounds was characterized by FT-IR, melting points, TLC, X-Ray, DSC and 1H-NMR for starting material. These compounds were also screened for their antibacterial activists?