Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.

Objective: Methylmalonic acidemia (MMAs) is known as a severe, complex, and lethal disorder of methylmalonate and cobalamin. The patients with MMA may have developmental, neurological, and metabolic disorders such as liver disease. Here, we aim to evaluate 6 Iranian patients suspected to MMA disorder.

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.

Hereditary Tyrosinemia Type 1 (HT1) is a genetic disorder characterized by an autosomal recessive inheritance pattern, caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, which results in a deficiency of fumarylacetoacetase. In our study, we identified a total of 15 mutations, including 12 newly discovered and 3 previously reported pathogenic mutations, in a cohort of 19 Iranian patients with the acute form of HT1. Out of the 12 novel variants identified, 11 were missense variants: p.

Clinical Findings, Bacterial Agents, and Antibiotic Resistance in Children with Spontaneous Peritonitis in Southern Iran: An Academic Tertiary Referral Center's Experience.

Background: Spontaneous bacterial peritonitis (SBP) is a fatal complication of ascites fluid infection. The causes of SBP in children differ from those in adults, and these bacteria are frequently resistant to antibiotics. Therefore, this study investigated the clinical findings, bacterial etiology, and antimicrobial resistance in children with SBP.

A Comparison of the Effect of Kegel Exercises and Conventional Therapy versus Conventional Therapy Alone in the Treatment of Functional Constipation in Children: A Randomized Clinical Trial.

Background: There have been few studies on the effect of Kegel exercises on the treatment of functional constipation in children. Hence, the present study investigated the add-on role of Kegel exercises in children with functional constipation.

Methods: This clinical trial was conducted on children with functional constipation, according to Rome IV, who were referred to the pediatric department of Imam Reza Clinic (Shiraz, Iran) in 2022.

Large Volume Paracentesis in Patients with Liver Cirrhosis Temporarily Diminishes Blood Cell Count.

Background: Large-volume paracentesis is the preferred treatment for patients with severe and refractory ascites. Several complications were reported during therapeutical paracentesis. However, there are very few published studies on the change in blood cell count after paracentesis.

Evaluation of Outcomes and Complications of Large Volume Paracentesis without Albumin and Coagulopathy Therapy in Pediatrics with Severe Ascites.

Background: Large-volume paracentesis has become the first treatment choice for patients with severe and refractory ascites. The studies have reported several complications after therapeutic paracentesis. But there are few published data on the complications with or without Albumin therapy.

Non-invasive monitoring associated with B lymphoma cells in post-transplant lymphoproliferative disorder (PTLD) patients: Systematic review.

Background: One of the most severe side effects of solid-organ transplantation is posttransplant lymphoproliferative disease (PTLD). People with human immunodeficiency virus infection (HIV), an immunosuppressive disease comparable to HIV, have a higher chance of developing lymphoma when their peripheral blood contains elevated levels of the immunoglobulins kappa and lambda free light chains (FLCs).

Methods: This systematic review's objective was to monitor associated B lymphoma cells in PTLD patients.

Questioning Diagnostic Value of Serum Matrix Metalloproteinase 7 for Biliary Atresia.

Background: Matrix metalloproteinase 7 (MMP7) has been suggested as a promising biomarker in diagnosing biliary atresia (BA). This study aimed to assess the diagnostic accuracy of serum MMP7 in BA in the Middle Eastern population.

Methods And Materials: In this cross-sectional study, neonates and infants with direct hyperbilirubinemia admitted to Namazi referral hospital, Shiraz, Iran, were studied.

Identification of a novel mutation in the gene in hereditary fructose intolerance.

Objectives: Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far.

Case Presentation: Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction.

Thyroid Stimulating Hormone, T3 and T4 Population-based Reference Range and Children Prevalence of Thyroid Dysfunction: First Report from South of Iran.

Background & Objective: The TSH reference range's validity affects the thyroid dysfunction diagnosis. The primary objective of this study is to determine the reference range, which is established according to age and region.

Methods: The data were collected retrospectively from people over the age of one who visited Motahari Clinic for routine health checkups between August 2017 and October 2019.

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.

Patient variants in have recently been associated with progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein that links membrane-associated proteins to the intraflagellar transport complex A. In mice, mutations in Tulp3 drive phenotypes consistent with ciliary dysfunction which include renal cystic disease, as part of a ciliopathic spectrum.

Development of Bio-artificial Esophageal Tissue Engineering Utilization for Circumferential Lesion Transplantation: A Narrative Review.

The esophagus is the gastrointestinal tract's primary organ that transfers bolus into the stomach with peristaltic motion. Therefore, its lesions cause a significant disturbance in the nutrition and digestive system. Esophageal disease treatment sometimes requires surgical procedures that involve removal and circumferential full-thickness replacement.

Prevalence of Fungal Drug Resistance in COVID-19 Infection: a Global Meta-analysis.

Purpose: Secondary bacterial or fungal infections are one of the most important medical complications among patients with Coronavirus Disease 2019 (COVID-19). The emergence of multidrug-resistant (MDR) candida can cause many problems such as treatment failure, adverse clinical outcomes, and even disease outbreaks. This systematic review and meta-analysis aims to investigate the prevalence and outcomes of fungal drug-resistant in COVID-19 patients.

Rosa damascena together with brown sugar mitigate functional constipation in children over 12 months old: A double-blind randomized controlled trial.

Ethnopharmacological Relevance: Rosa × damascena Herrm., known as damask rose, is a bushy shrub that is found abundantly in Fars province, Iran. This species has been used in Iranian traditional practices for the treatment of abdominal pain and constipation, as gastrointestinal diseases.

An evaluation of ascitic calprotectin for diagnosis of ascitic fluid infection in children with cirrhosis.

Background: The most common infection in children with the hepatic disease with or without cirrhotic ascites is spontaneous bacterial peritonitis (SBP), which occurs in the absence of an evident intra-abdominal source of infection. The present study aims to assess the value of calprotectin in ascitic fluid in the diagnosis of ascitic fluid infection in children with liver cirrhosis.

Materials And Methods: In this cross-section study, 80 children with underlying liver disease who attended the Hepatology and Emergency Department in Shiraz University Hospitals were studied.

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.

Objectives: Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX α2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation.

Prevalence of HBV and HCV Infections in Iranian Blood Donors; An Updated Systematic Review and Meta-Analysis.

BACKGROUND Awareness of the prevalence of hepatitis B (HBV) and hepatitis C virus (HCV) infections, as blood transmitted infections, among blood donors can help policymakers improve the guidelines, share experiences, and estimate the blood safety over the country and in the region. We aimed to determine the prevalence of HBV and HCV infection in Iranian blood donors based on the present published literature. METHODS A meta-analysis was carried out based on the results of an electronic literature search in the international and national databases for all articles published until October 2020.

Pediatric liver and kidney transplantation in the era of COVID-19: a follow-up study from a tertiary referral center in Iran.

Background: We aimed to evaluate the impact of COVID-19 pandemic on pediatric transplant outcomes and determine whether to continue pediatric transplant activity or not, and how policies intended our center has been effective in preventing COVID-19 among organ transplant recipients.

Methods: We conducted a single-center, retrospective, cohort study of hospitalized pediatrics after organ transplantation at Shiraz transplant center since March to August 2020. All liver and kidney transplanted children were included the study and their laboratory and clinical related COVID-19 characteristics were followed up till 3 months after transplantation during hospitalization period and then weekly by the transplant committee.

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping.

The association between the score of adult attention-deficit/hyperactivity traits and risky driving behaviors with alcohol intake and narcotics consumption among Iranian motorcyclists.

Background: Motorcycle drivers are among the most vulnerable road users, accounting for a large proportion of global traffic accidents. This study aimed to investigate the association between the score of adult attention-deficit/hyperactivity (ADHD) traits and risky driving behaviors (RDB) with alcohol intake (AI) and narcotics consumption (NC) among motorcyclists in Iran.

Methods: This multi-center cross-sectional study encompassed 1747 motorcyclists from three cities in Iran.

The effects of metformin administration on liver enzymes and body composition in non-diabetic patients with non-alcoholic fatty liver disease and/or non-alcoholic steatohepatitis: An up-to date systematic review and meta-analysis of randomized controlled trials.

Background: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. One treatment is the use of metformin but its efficacy remains to be established.

Objective: The present systematic review and meta-analysis aimed to provide a more robust examination of the evidence for the effectiveness of metformin for treating non-diabetic NAFLD patients.