Publications by authors named "Vahid Saeedi"
Background: This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition.
Case Presentation: A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal insufficiency (AI), growth delay, seizures, and hyperpigmentation. Laboratory evaluation revealed hypoalbuminemia, significant proteinuria, hyperkalemia, and elevated adrenocorticotropic hormone (ACTH) levels.
Article Synopsis
- This study explored how specific genetic factors related to HLA-II alleles affect the presence of insulin autoantibodies in children with type 1 diabetes (T1D), involving a sample of 111 T1D children and their families.
- It found that certain HLA alleles (like DRB1*03:01 and DQB1*02:01) were more common in T1D patients, while other alleles were less frequent, indicating a possible genetic predisposition.
- The research also suggested that similarities between proteins from gut bacteria and islet cell autoantigens could contribute to the development of T1D, hinting that gut health may be an important factor for those at genetic risk.
Background: This systematic review aims to comprehensively assess the diagnostic accuracy of cognitive screening tools validated for older adults in Iran, providing evidence-based recommendations for clinicians and researchers.
Methods: A comprehensive search in March 2023 across Web of Science, PubMed, Scopus, ScienceDirect, SID, IranMedex, and IranDoc, enhanced by hand-searching references and Google Scholar, identified cross-sectional studies on cognitive screening in Iranian seniors. We assessed diagnostic accuracy, cognitive domains, and test strengths and weaknesses.
Article Synopsis
- A study was conducted on Iranian families with Type 1 diabetes (T1D) to analyze the genetic transmission of specific HLA alleles and haplotypes from parents to children and calculate the associated genetic risk score.
- The research involved 240 T1D subjects, including 111 parent-child trios, and compared them with 330 healthy individuals, using high-resolution HLA typing for detailed genetic analysis.
- Key findings showed that certain haplotypes significantly increased the risk of developing T1D, with one haplotype raising the risk by 24.5 times, while other haplotypes were found to offer protective benefits against the disease.
Background: Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance.
View Article and Find Full Text PDFBackground: Obesity is now well-recognized as an independent risk factor for cognitive decline. Although extensive research has been conducted on cognitive outcomes following bariatric surgery in young adults, very little is known about the impact of advanced age on the cognitive benefits of weight-loss procedures.
Objectives: This study aimed to assess cognitive function in older Iranian patients before and after bariatric surgery.
Pulmonary embolism (PE) is the most severe clinical presentation of venous thromboembolism (VTE), which can be challenging to diagnose due to its non-specific symptoms. The overlapping clinical symptoms of Coronavirus disease 2019 (COVID-19) and PE may make distinguishing between the two difficult. Thus, the diagnosis of PE may be delayed or missed, with grave consequences for the patient's outcome and safety.
View Article and Find Full Text PDFBackground: Sestrin2 and beclin1 are two newly found proteins that have essential roles in autophagy. This study attempted to evaluate the plasma concentrations of sestrin2 and beclin1 in women with polycystic ovary syndrome (PCOS) and healthy controls and to explore the clinical value of these proteins as novel biomarkers for PCOS.
Methods: In this case-control study, plasma levels of sestrin2 and beclin1, fasting blood sugar (FBS), lipid profile, insulin, and androgens were evaluated in 63 women (31 patients and 32 controls).