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.
Vitamins play an important role in the human health, and thus they are the kind of major nutrients in the body. Chemical products perform numerous physiological functions and can jeopardize health jointly in their absence and surplus. Therefore, it is necessary to establish methods for observation vitamin levels in various molds. In this review paper, the most methods of determination used are high performance liquid chromatography (HPLC), spectrophotometric and potentiometric techniques by listed the value of : slope, linear range, correlation coefficient, detection limit, the max of wavelength and PH and compared with these methods.
This search include the synthesis of some new 1,3-oxazepine derivatives have been prepared, starting from reaction of L-ascorbic acid with dry acetone in presence of dry hydrogen chloride afforded the acetal (I). Treatment of the latter with p-nitrobenzoyl chloride in pyridine yielded the ester (II) which was dissolved in (65%) acetic acid in absolute ethanol yielded the glycol (III). The reaction of the glycol (III) with sodium periodate in distilled water at room temperature produced the aldehyde (IV). The compound (V) [4-(1,3-dioxoisoindolin-2-yl)benzoic acid] was synthesized by reaction p-aminobenzoic acid and phthalic anhydride in presence of (gla. CH3COOH). Reaction of compound (V) with thionyl chloride produced [4-(1,3-dioxoisoindoli
... Show MoreKE Sharquie, A Noaimi, W Al-Janabi, American Journal of Dermatology and Venereology, 2014 - Cited by 4
KE Sharquie, AA Noaimi, AA Hajji, Journal of Cosmetics, Dermatological Sciences and Applications, 2014 - Cited by 5
The aldol condensation of 2-acetylnaphthalene with 9-anthracene carboxaldehyde afforded α, β-unsaturated keton (1) . New heterocyclic compounds containing: cyclohexenone[2], indazole[3], pyrimidinethion [4], thiazolo fused pyrimidine[5], isoxazoline[6], substituted pyrazoline[7]a-d and pyrimidinone[8] rings system were synthesized from α, β-unsaturated keton[1]. Cyclization of [1] with ethylacetoacetate gave the mentioned heterocycle cyclohexanone [2]. The cyclo condensation of [2] with hydrazine gave the new indazole derivative [3]. furthermore, the reation of [1]with thiourea gives thiopyrmidine derivative [4]. The cyclo condensation of [4] with chloroacetic acid gave the fused rings [5]. Then reacted compound[1] with hydroxy
... Show MoreAcute myeloid leukemia (AML) represents the most prevalent type of acute leukemia in adults and is responsible for approximately 80% of all cases. The tumor suppressor gene (TP53) is a gene that has been frequently studied in cancer, and mutations in this gene account for about 50% of human cancers. This study aims to evaluate the correlation between two single nucleotide polymorphisms (SNPs) in the gene: rs1042522 and rs1642785, and a group of Iraqi patients suffering from pre-diagnostic acute myeloid leukemia (AML). Blood samples were collected from sixty patients (26 males and 34 females) and sixty controls (26 males and 34 females); these subjects were matched in gender, age, and ethnicity. Genomic DNA has been extracted fro
... Show MoreThe research aims to test the effect of the behavioral factors (intangible) represented by an explanatory variable represented by organizational silence and a responsive variable of quality of Function life. The problem was the negative effects of the organizational silence on the morale of the employees and consequently their performance and the quality of function life. To collect the data and information needed to measure the two variables of research conducted in the health center / Sulaikh by taking a sample of (40) employees to test the hypotheses of research through the survey of their views, using statistical tools non parametric using the program. The most important recommendations were the establishment of training workshops fo
... Show More