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 type 2 diabetes mellitus there is a progressive loss of beta cell function. One new
approach yielding promising results is the use of the orally active dipeptidyl peptidase-4 (DPP-4)
inhibitors for type 2 diabetes mellitus.
Objective: This study aims at comparing the possible occurrence of macrovascular & microvascular
complications in Iraqis patients with type 2 diabetes mellitus using two combinations of drugs
metformin + glibenclamide and metformin + sitagliptin.
Methodology: Sixty eight T2DM patients and 34 normal healthy individuals as control group were
enrolled in this study and categorized in to two treatment groups. The group 1 (34 patients ) received
metformin 500 mg three times daily
This research aims to show the sight at the importance of the private banking sector in Iraq and its role in financing of the investment projects , of the ability of Central Bank's decision to increase the minimum limit of capital for private banks to provide support to the economic activity and the development in Iraq. In addition to illustrate the importance of the capital increase, with a, and taking into notice the most important determinants that can stand in front of these banks in the beginning of the decision implementation, which in turn can lead to the most important proceedings that can contribute in the support of banks to implementation the decision. Also, the research has highlighted the most important ways through wh
... Show MoreWomen are considered the real power to build societies, as they are half of society, and it is their responsibility to raise generations، as human history testifies to the recording of great names with their giving and achievement in various scientific, social and humanitarian disciplines. Because of the importance of women in our lives, society must give them special care, whether at home or within the community structure to which they belong, so that they contribute to the image that brings about a transformation in the public scene, as well as providing them with support to take charge of bringing about change themselves, and this explains the interest of the press at all levels. Women's issues and topics through various journal
... Show MoreThis research aims to develop rehabilitation exercises using cryotherapy for patients with frozen shoulder, Identify the effect of rehabilitation exercises combined with cryotherapy on pain relief and improved range of motion in the experimental group , and identify the effect of standard rehabilitation exercises on pain relief and improved range of motion in the control group, and identify the differences between the experimental and control groups in the post-tests for the variables of pain and range of motion. The researchers used an experimental design with two equivalent groups (experimental and control) using pre- and post-tests, as it was suitable for the nature of the research problem and its objectives, the research populat
... Show MoreLiquefied petroleum gas (LPG), Natural gas (NG) and hydrogen were all used to operate spark ignition internal combustion engine Ricardo E6. A comparison of CO emissions emitted from each case, with emissions emitted from engine fueled with gasoline as a fuel is conducted.
The study was accomplished when engine operated at HUCR for gasoline n(8:1), was compared with its operation at HUCR for each fuel. Compression ratio, equivalence ratio and spark timing were studied at constant speed 1500 rpm.
CO concentrations were little at lean ratios; it appeared to be effected a little with equivalence ratio in this side, at rich side its values became higher, and it appeared to be effected by equivalence ratio highly, the results s
... Show MoreThis article investigates Iraq wars presentation in literature and media. The first section investigates the case of the returnees from the war and their experience, their trauma and final presentation of that experience. The article also investigates how trauma and fear is depicted to create an optimized image and state of fear that could in turn show Iraqi society as a traumatized society. Critics such as Suzie Grogan believes that the concept of trauma could expand to influence societies rather than one individual after exposure to trauma of being involved in wars and different major conflicts. This is reflected in Iraq as a country that was subjected to six comprehensive conflicts in its recent history, i.e. less than half a century; th
... Show MoreMost of the water pollutants with dyes are leftovers from industries, including textiles, wool and others. There are many ways to remove dyes such as sorption, oxidation, coagulation, filtration, and biodegradation, Chlorination, ozonation, chemical precipitation, adsorption, electrochemical processes, membrane approaches, and biological treatment are among the most widely used technologies for removing colors from wastewater. Dyes are divided into two types: natural dyes and synthetic dyes.
Background: Periodontal diseases are inflammatory diseases affecting the supporting tissues of the teeth. One of the leading environmental factors that are closely related not only to the risk but also to the prognosis of periodontitis is smoking. This study aimed to evaluate the influence of smoking on periodontal health status and to measure the levels of matrix metalloproteinase-9 in smokers and nonsmokers chronic periodontitis patients, also it aimed to test the correlation between the levels of matrix metalloproteinase-9 and the clinical periodontal parameters. Materials and Methods: Five milliliters samples of un-stimulated whole saliva and full-mouth clinical periodontal recordings (plaque index, gingival index, bleeding on probing,
... Show MoreMany condensed polymers [A1-A7] were prepared via reaction of (Ethylenediaminetetraacetic acid = EDTA), with different prepared imide-diamines by modification [ modification of amino acids and antibiotics (B1- B7)] Imide-diamines were prepared by chlorination of L-amino acids such as [ L-Histidine, L-Alanine, L-Valine, L-Glycine and L-Aspargine ] or selected antibiotics such as [Cephallixine monohydrate and Amoxilline ] with thionyl chloride at 0°C, then reacted with ammonia to obtain imidediamines [B1-B7] . The physical properties of all prepared condensed polymers [A1-A7], new prepared diamines [B1-B7] were studied and characterized by FT -IR spectroscope to certify the structural formulas. The thermal analysis (TGA, DTA) were studied, a
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