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.
Television culture has become the most dangerous of our time. It manipulates with minds and hearts together; and forms consciousness. It transforms societies into actual forces rejecting certain principles by guiding the media landscape through visible connotations acceptable to the public; or provokes the citizen against elements that put a burden on the viewer or the public in order to create a positive reaction to the subject of combating terrorism by combining these ads in line with what the public wants of security and tranquility and a decent living after suffering from terrorism in the past years.
Therefore, this research deals with television advertisements as one of the most important fo
... Show Moret. The current study was conducted on the umbilical cord blood of newborns in the Banks Hospital in Baghdad, Diyala, and Khalis in Diyala, where the study included 90 samples of blood, and samples were collected for the period from the 1st of October;2020 to The first of February;2021 AD, where the study included measuring levels of interleukin-6;Adiponectin,glucose and bilirubin in the blood, comparison study between the study variables with the child's weight (greater than 3 kg),(less or equal 3 kg),the mother's age (greater than 25 years, less or equal to 25 years),the sex of the child (male, female).The results of our study showed that there were no significant differences between the variables of the current study between the two sex
... Show MoreTannin acyl hydrolase as the common name of tannase is an inducible extracellular enzyme that causes the hydrolysis of galloyl ester and depside bonds in tannins, yielding gallic acid and glucose. The main objective of this study is to find a novel gallic acid and tannase produced by
Background: The use of minerals in treatment of different diseases is as old as man himself. zinc is the most famous trace mineral related to male sexual function. Oligoasthenozoospermic subfertile patients were treated with zinc sulphate for three months.
Objectives: Aim of the research is to investigate the role of Zinc and if it affects the abnormalities of some semen parameters and to study the possible role of pharmaceutical preperations of zinc in amelioration of male subfertility as well as to assess the ability of Zinc to induce changes in the serum and semen zinc levels in addition to the levels of reproductive hormones (FSH and Testosterone).
Type of the study:
... Show MoreBackground: Orthodontic therapy often causes external root resorption. Serum vitamin D (VD) level is important for tooth mineralization and bone remodeling. This study aimed to test the impact of vitamin D (VD) supplements on bone and root remodelling in a vitamin D (VD) deficient rat model following orthodontic retention. Methods and Material: 30 male Wistar rats were divided into three groups: a control group of 10 rats and two experimental groups of 10 rats each with vitamin D deficiency (VDD) induced by a VD-free diet for 21 days. And a third group with VD supplementAll groups received orthodontic active treatment using a modified orthodontic appliance that applied 50 gm of force for 14 days to move the maxillary right first mol
... Show MoreKE Sharquie, AA Noaimi, AH Muhammad Ali, 2008 - Cited by 3
This study was conducted to investigate thyroid function and Anti-Müllerian hormone (AMH) in (Chronic kidney disease) CKD patients by evaluating their levels in CKD patients, 50 patients were diagnosed to have CKD stage-5, their ages ranged between 20-50 years (25 males and 25 females) who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq, they were recruited from April 2018 to July 2018 and were enrolled into the study. The control group consisted of 20 healthy individuals, their ages ranged between 20-48 years (10 males and 10 females). The study showed non-significant (p>0.05) increase in AMH level in CKD patients compared to the control group. On the other hand, TSH was recorded a highly significant (
... Show MoreBackground: Osteoarthritis (OA) is a degenerative joint disease. It is one of the major causes of disability in developed and developing countries. Human leukocyte antigen (HLA) as part of immune system has a role in the disease process.Objectives: To investigate whether there is an association between HLA class II-DRB and OA.Methods: A case control study with 26 patients with osteoarthritis and 22 apparently healthy obese control persons matching in ethnicity were enrolled in this study during the period between October 2012 till March 2013. Direct interview was done with each patient and HLA typing was done by molecular method using Sequence Specific Primer (PCR-SSP) method using One Lambda Kit-USA. Results: The results showed that fem
... Show MoreThe present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on 70 subjects, 50 patients with an age range between 20-50 years (25 males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10 males and 10 females), who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April 2018 to July 2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea
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