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.
The current study shows the cytotoxicity effect of the Crassula ovata n-hexane extract on esophagus can¬cer. C. ovata is a perennial succulent plant belonging to the Crassulaceae family. In Africa, the leaves were used medicinally to cure epilepsy and diarrhoea by boiling them in milk. The hexane fraction, which is obtained through the maceration method, demonstrates the presence of many compounds that have an anticancer effect, which are ob¬tained by gas chromatography - mass spectroscopy. The phytosterol compound was isolated by a preparative thin layer chromato¬graph and was identified by liquid chromatography - mass spectroscopy. The hexane fraction was found to possess a strong anticancer effect against esophagus cancer. The
... Show MoreThe impacts of numerous important factors on the Energy Absorption (EA) of torsional Reinforced Concrete (RC) beams strengthened with external FRP is the main purpose and innovation of the current research. A total of 81 datasets were collected from previous studies, focused on the investigation of EA behaviour. The impact of nine different parameters on the Torsional EA of RC-beams was examined and evaluated, namely the concrete compressive strength (f’c), steel yield strength (fy), FRP thickness (tFRP), width-to-depth of the beam section (b/h), horizontal (ρh) and vertical (ρv) steel ratio, angle of twist (θu), ultimate torque (Tu), and FRP ultimate strength (fy-FRP). For the evaluation of the energy absorption capacity at di
... Show Moreفي هذا البحث نحاول تسليط الضوء على إحدى طرائق تقدير المعلمات الهيكلية لنماذج المعادلات الآنية الخطية والتي تزودنا بتقديرات متسقة تختلف أحيانا عن تلك التي نحصل عليها من أساليب الطرائق التقليدية الأخرى وفق الصيغة العامة لمقدرات K-CLASS. وهذه الطريقة تعرف بطريقة الإمكان الأعظم محدودة المعلومات "LIML" أو طريقة نسبة التباين الصغرى"LVR
... Show MoreThis study evaluates the flexural behavior of ultra-thin (50 mm) one‑way reinforced‑concrete (RC) slabs retrofitted with near‑surface mounted (NSM) carbon‑fiber‑reinforced polymer (CFRP) rods under quasi‑static loading. T300‑grade CFRP rods (≈4 mm diameter) were bonded in pre‑cut 7 mm × 7 mm grooves using a two‑part epoxy. As a proof-of-concept experimental baseline, three simply‑supported specimens (1000 mm × 500 mm × 50 mm) were tested in a six‑point bending configuration (four applied loads + two reactions): two conventional controls and one strengthened slab. A load‑control rate of ~15 kN/min was applied; the controls were cycled twice and the strengthened slab four times. Relative to the average of
... Show MoreThe high carbon dioxide emission levels due to the increased consumption of fossil fuels has led to various environmental problems. Efficient strategies for the capture and storage of greenhouse gases, such as carbon dioxide are crucial in reducing their concentrations in the environment. Considering this, herein, three novel heteroatom-doped porous-organic polymers (POPs) containing phosphate units were synthesized in high yields from the coupling reactions of phosphate esters and 1,4-diaminobenzene (three mole equivalents) in boiling ethanol using a simple, efficient, and general procedure. The structures and physicochemical properties of the synthesized POPs were established using various techniques. Field emission scanning elect
... Show MoreBackground: Due to the complicated and time-consuming physiological procedure of bone healing, certain graft materials have been frequently used to enhance the reconstruction of the normal bone architecture. However, owing to the limitations of these graft materials, some pharmaceutical alternatives are considered instead. Chitosan is a biopolymer with many distinguishing characteristics that make it one of the best materials to be used as a drug delivery system for simvastatin. Simvastatin is a cholesterol lowering drug, and an influencer in bone formation process, because it stimulates osteoblasts differentiation, bone morphogenic protein 2, and vascular endothelial growth factor. Objectives: histological, histochemical and histomorp
... Show MoreThe research aims to clarify the importance of adoption of International Accounting Standard No. (12) "Income Taxes" as a tool for the measurement and disclosure of income taxes in the financial statements، and how to deal with the differences that arise as a result of difference in net profit accounting for net tax profit ،The problem of the research focused on the disparity between the income tax estimate in Iraq in accordance with the accounting standards and financial reporting and assessment of income tax in accordance with the tax laws and legislation, this discrepancy has led to the emergence of differences between accounting profit and tax profit (temporary differences and permanent differences) and these differences of w
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