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.
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 MoreTrajectory tracking and vibration suppression are essential objectives in a flexible joint manipulator control. The flexible joint manipulator is an under-actuated system, in which the number of control actions is less than the degree of freedom to be controlled. It is very challenging to control the underactuated nonlinear system with two degree of freedom. This paper presents a hierarchical sliding mode control (HSMC) for a rotary flexible joint manipulator (RFJM). Firstly, the rotary flexible joint manipulator is modeled by two subsystems. Secondly, the sliding surfaces for both subsystems are constructed. Finally, the control action is designed based on the Lyapunov function. Computer simulation results demonstrate the effectiveness of
... Show MoreTechnological advances have yielded new molecular biology-based methods for the diagnosis of infectious diseases. The newest and most powerful molecular diagnostic tests are available at regional and national reference laboratories, as well as at specialized centers that are certified to conduct metagenomic testing. Metagenomic assays utilize advances in DNA extraction technology, DNA sequence library construction, high throughput DNA sequencing and automated data analysis to identify millions of individual strands of DNA extracted from clinical samples. At present, metagenomic assays are only possible at a small number of special research, academic and commercial laboratories. Continued research in human and path
... Show MoreAbstract Background: The human epidermal growth factor receptor 2(HER2) proto-oncogene is overexpressed or amplified in approximately 15%-25% of invasive breast cancers. Approximately 35% of HER2-amplified breast cancers have coamplification of the topoisomerase II-alpha (TOP2A) gene encoding an enzyme that is a major target of anthracyclines. Hence, the determination of genetic alteration (amplification or deletion) of both genes is considered as an important predictive factor that determines the response of breast cancer patients to treatment. The aims of this study are to determinate TOP2A status gene amplification in a set of Iraqi patients with breast cancer that have had an equivocal (2+) and positive HER2/neu by immunohistochemistry
... Show MoreObjective: To Evaluate the Roley of Cytotoxic T-Lymphocytek antigen 4 Polymorphism and soluble immune checkpoint level (PD-1,PDL-1 and CTLA-4 ) in SARS-Cov-2 patients. Methods: Fromt October 2020 to April 2021, the currentk study was conducted in Baghdad-Iraq. Ninety patients with Confirmatory SARS-Cov-2 by PCR were inclusion in the study, and they were seeking treatment at Medical City in Baghdad's Teaching Hospital (BTH). Patients with SARS-Cov-2 were divided into two groups: those with Sever SARS-Cov-2 symptom and those with mild - moderate SARS-Cov-2 symptoms (cross sectional study. Patients with another form of autoimmune illness, malignant, diabetes, under the age of 18 and pregnant women were excluded. Results: Data rega
... Show MoreProteus mirabilis is considered as a third common cause of catheter-associated urinary tract infection, with urease production, the potency of catheter blockage due to the formation of biofilm formation is significantly enhanced. Biofilms are major virulence factors expressed by pathogenic bacteria to resist antibiotics; in this concern the need for providing new alternatives for antibiotics is getting urgent need, This study aimed to explore whether green synthesized zinc oxide nanoparticles (ZnO NPs) can function as an anti-biofilm agent produced by P.mirabilis. Bacterial cells were capable of catalyzing the biosynthesis process by producing reductive enzymes. The nanoparticles were synthesized from cell free
... Show MoreBackground: Errors of horizontal condylar inclinations and Bennett angles had largely affected the articulation of teeth and the pathways of cusps. The aim of this study was to estimate and compare between the horizontal condylar (protrusive) angles and Bennett angles of full mouth rehabilitation patients using two different articulator systems. Materials and Methods: Protrusive angles and Bennett angles of 50 adult males and females Iraqi TMD-free full mouth rehabilitation patients were estimated by using two different articulator systems. Arbitrary hinge axis location followed by protrusive angles and Bennett angles, estimation was done by a semiadjustable articulator system. A fully adjustable articulator system was utilized to locate th
... Show Moreداء السكري من النوع 2 (T2DM) هو مرض معقد يصيب العديد من الأعضاء إلى جانب البنكرياس مثل الكلى والكبد والدماغ والعين. بسبب ارتفاع السكر في الدم لفترات طويلة وعدم السيطرة على مرض السكري مع وجود عوامل خطر أخرى ، يمكن أن تحدث مضاعفات مرض السكري. تشمل مضاعفات مرض السكري مضاعفات الأوعية الدموية الدقيقة والأوعية الدموية الكبيرة التي تستهدف الكلى. تهدف الدراسة الحالية إلى التحقق من مستوى الانجوتينسن المحول للانزيم A
... Show MoreThe purpose of this study is to illuminate the role of CBCT in forensic dentistry through variations of mandibular measurements of Bonwill’s triangles in gender determination among the Iraqi population.
In this retrospective study 70 CBCT scans were analyzed to measure the Bonwill’s triangle, 35 for males and 35 for females aged between 20 and 50 years, all data were collected at the oral and maxillofacial radiology department in Ghazi AL-Hariri hospital for 3 months, and the data were obtained using a Kavo CBCT device (3D On De