Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran.

Inherited metabolic diseases (IMD) are a group of rare genetic disorders that can present with a variety of symptoms. Since these disorders are hard to treat once the symptoms occur, neonatal screening may be a logical strategy. Here we evaluate the first results of national expanded IMD screening in Iran.

Navigating ethical dilemmas in complementary and alternative medicine: a narrative review.

Complementary and alternative medicine (CAM) is a rapidly growing industry, with millions worldwide seeking these treatments for various ailments. While many CAM therapies have shown promise in improving health outcomes, there are also ethical challenges associated with them. In this article, we explore some of the most pressing ethical issues in CAM, including informed consent, justice in accessibility, and evidence-based therapies.

Determinants of Self-monitoring of Blood Glucose in Iranian Children and Adolescents with Type 1 Diabetes.

Background: Type 1 diabetes mellitus (T1DM) is a prevalent chronic disease among children and adolescents, necessitating effective self-monitoring of blood glucose (SMBG) levels. Understanding the determinants and factors influencing SMBG behavior is crucial for optimizing diabetes management in this population.

Objectives: This study aimed to investigate the frequency of SMBG and identify the determinants influencing factors in children and adolescents with T1DM.

Unraveling the link between insulin resistance and Non-alcoholic fatty liver disease (or metabolic dysfunction-associated steatotic liver disease): A Narrative Review.

Objective: Non-alcoholic fatty liver disease (NAFLD) is rapidly becoming a significant global health concern, representing the leading cause of chronic liver disease and posing a substantial public health challenge. NAFLD is associated with higher insulin resistance (IR) levels, a key pathophysiological mechanism contributing to its development and progression. To counter this growing trend, it is crucial to raise awareness about NAFLD and promote healthy lifestyles to mitigate the impact of this disease.

Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report.

Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15-year-old girl, diagnosed as Swyer syndrome associated with left ovarian dysgerminoma.

Benefits of metformin add-on insulin therapy (MAIT) for HbA1c and lipid profile in adolescents with type 1 diabetes mellitus: preliminary report from a double-blinded, placebo-controlled, randomized clinical trial.

Objectives: Metabolic control during puberty is impaired in Type 1 Diabetes Mellitus (T1DM) patients due to increased insulin resistance. Metformin is one of the oral medications typically used in type 2 diabetes mellitus to reduce insulin resistance. We aimed to examine the effect of metformin on glycemic indices and insulin daily dosage in adolescents with T1DM.

3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis.

Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease.

Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria.

Objective: Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, which is classified into classic and non-classic types. It is estimated that 2% of children with PKU develop a severe and progressive neurological disease, called non-classic (malignant) PKU. This study aimed to demonstrate the clinical features, laboratory findings, and diagnostic/therapeutic characteristics of non-classic PKU patients referred to a tertiary referral center for children in Tehran, Iran.

Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in Gene.

Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive disorder caused by deficiency of β-glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β-glucuronidase in this lysosomal storage disorder is characterized by various manifestations such as nonimmune hydrops fetalis, spinal deformity, organomegaly, dysostosis multiplex, intellectual disability, and eye involvement. It is caused by a mutation in gene located on chromosome 7 q11.

Assessment of Anthropometric Indices in Patients with Phenylketonuria.

Objectives: Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are a number of studies which have demonstrated growth retardation in these patients, and some are in contrast. This study was performed to assess the growth parameters of treated PKU patients.

Utility of Seizure Pattern and Related Clinical Features in the Diagnosis of Neurometabolic Disorders.

Objectives: The current study aimed at identifying the role of seizure types and related clinical features in differentiation between neurometabolic disorders and other causes of seizure.

Materials & Methods: The current cross sectional study was conducted at two referral children hospitals in Tehran, Iran, from 2011 to 2018. The study population included 120 patients presenting with seizure due to neurometabolic disorders and 120 cases due to other causes.

Assessment of Sexual Maturation Among Girls With Special Needs in Tehran, Iran.

Background: There is limited data on sexual maturation among girls with intellectual, sensory, or physical disabilities.

Objectives: The present cross-sectional study was conducted to assess the sexual maturation of girls with these disabilities in special schools.

Methods: In this cross-sectional study, we evaluated the onset and progression of sexual maturation in 642 six to 18-year-old girls with intellectual, sensory, or physical disabilities from special schools in Tehran.

A Rare Case of Ovarian Hyperstimulation Syndrome in a Preterm Infant.

Ovarian hyperstimulation syndrome is a rare disease among preterm infants. This syndrome was first described in 1985 in four infants with a gestational age of <30 weeks. Several explanations for this syndrome have been suggested namely the immaturity of Hypothalamic-Pituitary-Gonadal (HPG) axis, lack of negative feedback, increased sensitivity of Follicle Stimulating Hormone (FSH) receptors due to mutation and high level of estradiol.

Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22.

There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22.

Vitamin D deficiency in chronic idiopathic urticaria.

Chronic urticaria is the most common skin diseases, characterized by chronic cutaneous lesions which severely debilitates patients in several aspects of their everyday life. Vitamin D is known to exert several actions in the immune system and to influence function and differentiation of mast cells, central role players in the pathogenesis of chronic idiopathic urticaria. This study was performed to evaluate the relationship between vitamin D levels and susceptibility to chronic idiopathic urticaria.

Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings.