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.
Often times, especially in practical applications, it is difficult to obtain data that is not tainted by a problem that may be related to the inconsistency of the variance of error or any other problem that impedes the use of the usual methods represented by the method of the ordinary least squares (OLS), To find the capabilities of the features of the multiple linear models, This is why many statisticians resort to the use of estimates by immune methods Especially with the presence of outliers, as well as the problem of error Variance instability, Two methods of horsepower were adopted, they are the robust weighted least square(RWLS)& the two-step robust weighted least square method(TSRWLS), and their performance was verifie
... Show MoreBackground: human paillomavirus infections (genital warts) are the most frequent sexually transmitted viral infections. a wide range of treatment options is available with different efficacy.
Objective: To evaluate the efficacy of podophyllin, trichloracetic acid (TCA) in the treatment of genital warts and side effects of them.
Subjects and methods: a total of sixty patients with genital warts were randomly selected, 30 in each group, in the Department of Dermatology, medical city for a Duration of 11 months from January 2009 to December 2009 treated with 35 % podophyllin in the tincture of benzoin or 50% TCA) .Forty-eight patients were followed up for three months.
Results: wart
... Show MoreAnaemia is a common extra-articular manifestation of rheumatoid arthritis (RA) where anaemia of chronic disease (ACD) and iron deficiency anaemia (IDA) are the two most frequent types. The distinction between these two types of anaemia has always been challenging requiring sophisticated techniques. Serum transferrin receptor (sTfR) a truncated soluble form of the transferrin receptor is one of the parameters that is influenced by the Iron content and supply to the erythrons and is not affected by inflammatory status and therefore the use of the sTfR/log ferritin (sTfR-F) index can be a reliable indicator of functional iron deficiency.
Background: Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosa diseases characterized by recurrent, shallow, round or oval painful oral ulcers surrounded by inflammatory erythematous halos, the condition is chronic and self-limiting in immunocompetent patients. Aim of the study: to investigate the serum vitamin D levels in Iraqi female patients with RAS and the relationship between vitamin D levels and the severity of RAS. In this cross sectional study 30 female patients with idiopathic RAS, and 30 age and sex matched healthy controls were included, the severity of RAS is assessed by the number of oral aphthous ulcers in each attack and the frequency of attacks. Serum 25(OH) D levels were determined by the Enzy
... Show MoreHyperprolactinemia is a common endocrine abnormality caused by physiological factors like pregnancy and lactation, drug-induced factors like antipsychotics, pituitary adenomas that secrete prolactin, or stalk compression or section that reduces dopamine inhibition. Dopamine agonists cure most prolactinomas.
To assess response to treatment in micro versus macroprolactinoma.
Background :Alkaline phosphatase (ALP) was a widely used marker for skeletal and hepatobiliary disorders, but its activity was also increased in atherosclerosis and peripheral vascular disease. Several study has showed that ALP activity was increased in the sera of diabetic patients. The current study was conducted to evaluate ALP activity in type 2 diabetic patients and optimum conditions for enzyme activity in their sera.Methods: This study was carried out at in AL-Yarmok hospital(diabetic center) between February /2009 and April /2009. Fifty two patients with type 2 diabetes have been enrolled. Besides BMI, WHR, serum fasting blood glucose, ALP, HbA1C,uric acid and lipid profile levels have been performed .The relationship bet
... Show MoreAbstract Metabolic syndrome (MS) is a group of clinical and biological abnormalities included risk of insulin resistance , disorders in glucose metabolism , abdominal obesity and abnormal lipid profile these features confer a greater risk of cardiovascular diseases . Anyway, the co-occurrence of diabetes mellitus and metabolic syndrome potentiates the cardiovascular risk associated with each of the two conditions. The present study aimed to determine a relationship between prolactin level in type -2- diabetic Iraqi women and metabolic syndrome, as well to find a relationship between prolactin level and other studied biochemical markers. seventy menopausal diabetic women with metabolic syndrome with age in range (45-50) years were enrolled i
... Show MoreNanotechnology extends the limits of molecular diagnostics to the nanoscale. This study describes some of the details of how the body interacts with nanoparticles. Biological tests measuring the presence or activity of selected substances become quicker, more sensitive, and more flexible when certain nanoscale particles are put to work as tags. Particular emphasis is placed on the effects of surface changes on body-borne particles, their transport within the body, and the dose-response effect. Other considerations include the definition of "persistent" in the context of therapy, FDA scientific committees, and the need for nanoparticle tracking. In short, there have been dramatic changes in molecular and genetic research findings, as well as
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