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The objective of this research is to analyze the influence of various factors on glycemic control in pediatrics with type 1 diabetes mellitus (T1DM). The study, a cross-sectional analysis, involved 221 T1DM patients below 18 years old who visited our clinic between 2011 and 2020, predating the COVID-19 outbreak. Out of the initial pool, 204 participants were chosen based on specific criteria. By computing odds ratios and 95% confidence intervals, we determined the correlation between these factors and achieving optimal glycemic control (HbA1c < 7.5%). Of the 204 individuals, 55.9% (113 patients) were female. The average age at diagnosis was 6.93 ± 3.9 years. Mean HbA1c (A1C) level of optimal and suboptimal groups were 6.97, 95% CI 6.84 to 7.1 and 8.86, 95% CI 8.68 to 9.03, respectively (p-value < 0.001). Fifty patients had optimal glycemic control and 154 people experienced suboptimal glycemic control during the follow-up that the prevalence of each of them was 24.51, 95% CI 18.7 to 31 and 75.49, 95% CI 68.99 to 81.22, respectively. In the assessment of risk factors associated with suboptimal glycemic control, patients aged 10–14 years had the highest likelihood of experiencing suboptimal glycemic control (crude odds ratio [COR] 3.12, 95% CI 1.04 to 9.3), followed by duration of diabetes (COR 2.85, 95% CI 1.2 to 6.8), which both were significant. By utilizing multivariable logistic regression analysis, a noteworthy finding emerged. It was revealed that patients aged 10–14 years exhibited a significant association with suboptimal glycemic control, [adjusted odds ratio (AOR) 4.85, 95% CI 1.32 to 17.7]. Additionally, a statistically significant correlation was identified between individuals with a body mass index (BMI) falling within the ≥ 95th percentile category and suboptimal glycemic control, Cramer’s V = 0.21, p-value = 0.01. Our research has revealed a significant correlation between patients aged 10–14 years and obese individuals (BMI ≥ 95th) with suboptimal glycemic control. It is crucial to consider these factors as they can offer valuable insights during diagnosis, highlighting the increased risk of long-term suboptimal glycemic control.

Vitamin D‐dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha‐hydroxylase. We report a known case of VDDRIA with hypotonia, growth and developmental disorders and discuss about the mutation and its management.

Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD. MSUD happens in about 1 in 86,800 to 185,000 live births. According to some diversity in the management of Iranian patients with MSUD, the development of a national guideline is essential. This guideline is provided through a literature search on articles in PubMed, Scopus, Web of Sciences, Cochrane, and Embase databases from 2001 to 2022 accompanied by a consensus of physicians of different centers in Iran who are experts in the diagnosis and management of this disease. This article considers pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment, and monitoring of MSUD patients with limited recourse.

Background and aimThe Type 1 diabetes (T1D) management is a major challenge for families. Parenting styles are considered critical psychosocial factors influencing diabetes management outcomes. The present study investigated the relationship between parenting styles and glycemic control in children with T1D.Materials and methodsThis study is a cross-sectional study. The samples accordingly consisted of 110 parent–child pairs refereed to an endocrinology clinic in Iran in 2020. Demographic and Clinical Data and Parenting Styles and Dimensions Questionnaire-Short Form (PSDQ-SF) collected data. As a final point, the data were analyzed using the SPSS Statistics software and the associated tests.ResultsThe Mean ± SD age of the children was 10.31 ± 2.23. Out of 110 parents, 108 cases were practicing the authoritative parenting style and two individuals had thus far adopted the permissive one. More authoritativeness practiced by parents was associated with improved glycemic control. A significant direct relationship was found between the sub-factor 2 of the authoritative parenting style and HbA1c and postprandial blood sugar (β = 0.342, p = 0.004 and β = 0.301, p = 0.02, respectively).ConclusionsThis study contributed to more understanding of the significant role of parental responsiveness in promoting good glycemic control.

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.

Congenital goiter (CG) is one of the rarest disorders observed in a newborn at birth diagnosed with hypothyroidism. Considering the simultaneity of pregnancy and baby's hypothyroidism at birth, the goiter can be caused by diabetes during pregnancy and hypothyroidism emergence in the baby. Congenital goiter (CG) is one of the rarest disorders observed in a newborn at birth diagnosed with hypothyroidism. Considering the simultaneity of pregnancy and baby's hypothyroidism at birth, the goiter can be caused by diabetes during pregnancy and hypothyroidism emergence in the baby.

Background. Congenital hyperinsulinism (CHI) is a rare and life-threatening genetic disorder. Sirolimus as a mammalian target of rapamycin inhibitor may be helpful in patients with CHI who do not respond well to other treatments including diazoxide and octreotide. However, the safety and efficacy of this therapy are still unclear. This study aimed to evaluate the potential therapeutic effects of sirolimus in CHI patients with mutations in the ABCC8 and KCNJ11 genes. Methods. During the period of this follow-up study, every child with a confirmed diagnosis of unresponsive CHI underwent genetic evaluation. Among those who had positive genetic testing, six families agreed to participate in this study. The participants were evaluated for ABCC8, KCNJ11, or HNF4α gene mutations by polymerase chain reaction (PCR) sequencing. The participants who were unresponsive to diazoxide and octreotide therapy received 0.5 mg/m2/d of sirolimus, and the dose was gradually increased until a serum concentration of 5–15 ng/ml was achieved. Then, the participants were followed up for any possible complications. Results. Among the study participants, only one neonate was completely free of hypoglycemia after one year of follow-up, whereas three others experienced a partial reduction in hypoglycemic episodes over six months. One neonate underwent pancreatectomy despite receiving sirolimus. The oldest participant with a mutation in the ABCC8 gene responded well to sirolimus therapy after surgery and remained asymptomatic for 18 months. Conclusion. This study suggested that sirolimus therapy needs further evaluation to determine which patients will benefit the most. The genetic basis of CHI may have possible implications for determining the patient’s response.

Background. Post-COVID-19 nephropathies have been reported profusely in the literature with diverse pathophysiological mechanisms. To the best of our knowledge, this is the first report of transient distal (type 1) renal tubular acidosis (dRTA) in an infant with confirmed COVID-19. Case Presentation. We describe a 32-day-old female with diarrhea and fever without respiratory complaints. Her weight, height, and head circumference were normal for age. The primary lab test showed leukocytosis, neutrophilia, elevated inflammatory markers, and non-anion-gap metabolic acidosis. Real-time polymerase chain reaction (RT-PCR) and elevated SARS-CoV-2 immunoglobulin M confirmed COVID-19, while echocardiography and spiral chest computed tomography scan were normal. Intravenous fluid therapy and supportive care were initiated. Blood culture was positive for Klebsiella pneumoniae. Amikacin and cefotaxime were ordered. Although diarrhea and dehydration gradually improved, venous blood gas still showed metabolic acidosis. Due to the alkaline urine and hypokalemic-hyperchloremic metabolic acidosis, dRTA was diagnosed. Notably, the patient dramatically responded to Shohl’s solution. Conclusions. Regarding the various manifestations of COVID-19, the possible association between dRTA and COVID-19 needs further investigation in children.

Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran. Methods: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography. Results: Of the 407,244 screened newborns (48.7% girls and 51.3% boys), 14 girls and 13 boys were diagnosed definitely from 465 suspicious cases of PKU. The incidence of PKU was 0.66 in 10,000, which was noted in different severity (severe PKU - 1:67,874, mild PKU - 1:45,249, and HPA - 1:33,937). In addition, we did not detect any cases of nonclassic PKU. Conclusions: Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was no significant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease.

Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retardation. The PAH gene, that is 90 kb long, is consisted of 13 exons and 12 introns. The aim of the present study was to identify the frequency of five common mutations on PAH gene among patients with PKU in Mazandaran and Golestan provinces including c.1066-11G>A, p. R261Q, p. R252W, p. R261X, and c.1200 + 1G>C. Methods: Forty unrelated PKU patients, that 22 of them, were from Mazandaran and 18 of them from Golestan provinces were enrolled in the study. Genomic DNA was extracted from leukocytes using Qiagen DNA extraction kit and polymerase chain reaction - restriction fragment length polymorphism method was applied to detect five common mutations. Results: Three out of the 5 investigate mutations were identified among the patients. The c.1066-11G>A mutation has the highest frequency (27.5%) among the patients and the frequency of p. R261Q and p. R261X mutations were 3.75 and 1.25%, respectively. In Golestan province, only c.1066-11G>A mutation was observed in investigated alleles. Conclusions: The high frequency of c.1066-11G>A mutation in Golestan province may be related to genetic drift, founder effect, and consanguinity.