Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

BACKGROUND: Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. CASE PRESENTATION: A 4-and-a-half-year-old Caucasian girl was referred to our clinic with a liver biopsy report indicating a diagnosis of glycogen storage disease. Prior to being referred to our clinic, the patient had been under the care of pediatric gastroenterologists. The patient's initial symptoms included chronic abdominal pain, constipation, and elevated liver transaminase. With the help of the pediatric gastroenterologists, cholestasis, Wilson disease, and autoimmune hepatitis were ruled out. Given that glycogen storage diseases type I and type III are the most common, we initially managed the patient with frequent feedings and a diet that included complex carbohydrates such as a corn starch supplement and a lactose restriction. Following an unfavorable growth velocity and hepatomegaly during the follow-up period, genetic analysis was conducted, which revealed a novel mutation of the phosphorylase kinase regulatory subunit beta gene- a c.C412T (P.Q138x) mutation. As the diagnosis of glycogen storage disease type IX was confirmed, the treatment regimen was altered to a high protein diet (more than 2 g/kg/day) and a low fat diet. CONCLUSION: Given the mild and varied clinical manifestations of glycogen storage disease type IX, it is possible for the diagnosis to be overlooked. It is important to consider glycogen storage disease type IX in children who present with unexplained hepatomegaly and elevated transaminase levels. Furthermore, due to the distinct management of glycogen storage disease type IX compared with glycogen storage disease type I and glycogen storage disease type III, genetic analysis is essential for an accurate diagnosis.

Ebselen: A promising therapy protecting cardiomyocytes from excess iron in iron-overloaded thalassemia patients.

Iron-overload-associated cardiomyopathy has been one of the primary causes of mortality in thalassemia patients with iron burden. There is growing evidence citing the beneficial effects of ebselen as an antioxidant selectively blocking the divalent metal transporter 1 (DMT-1) to deter iron ingress into cardiomyocytes, raising internets in viewing this component in this population in order to treat and even prevent cardiomyopathy occurring from iron surplus. In this article, we reviewed the potential advantageous effects of ebselen in thalassemia patients who suffer from iron excess, susceptible to cardiomyopathy induced by iron overload. A systematic search in several databases, including PubMed, Scopus, and Web of Science, was conducted to explore the role of ebselen in controlling iron-overload-related cardiomyopathy in thalassemia patients by the keywords of Ebselen AND iron. The inclusion criteria were English-written preclinical and clinical studies investigating the efficacy and side effects of ebselen in an iron-overload context. After searching the databases, 44 articles were found. Next, of 19 published articles, 3 were included in this article. After reviewing the references of the included studies, no articles were added. In conclusion ebselen can be a promising adjuvant therapy in patients with thalassemia alongside the standard treatment with iron chelators, particularly in severe cases with cardiomyopathy, due to falling iron inflow by inhibiting DMT-1 and increasing ferroportin-1 expression and antioxidant properties. However, clinical studies need to be carried out to reach a definite conclusion.

Relationship between medical history and multiple sclerosis: A-case-control study.

This project sought to explore the potential association between medical history and the development of multiple sclerosis (MS) by conducting a retrospective study. This population-based case-control study included 200 MS cases and 2 control groups of 200 patients and healthy individuals each. Data was collected through face-to-face interviews, medical file reviews, and an electronic checklist. Multivariable analysis was used to calculate odds ratios and 95% confidence intervals to estimate the risk of each medical history on MS occurrences. Of 600 participants, 381 (63.5%) individuals were female. The mean age of the participants was 36.5 ±â€…11.9 years. The adjusted risks of MS were 4.40; 95% CI: 1.73 to 11.1 for measles and 4.75; 95% CI: 2.05 to 11 for amoxicillin consumption. The adjusted MS odds for autoimmune disease including 4.63; 95% CI: 0.35 to 60.6 for psoriasis and 7.15; 95% CI: 1.87 to 27.2 for myasthenia gravis. On the other hand, the calculated adjusted odds of MS occurrence were 0.14; 95% CI: 0.03 to 0.69 for seizure and 0.17; 95% CI: 0.02 to 1.49 for epilepsy. This study suggested that individuals with autoimmune diseases should be monitored more closely, as they may be at an increased risk of developing other autoimmune conditions, particularly MS.