Search

Background Phenyl ketonuria (PKU) is a congenital metabolic disease. Irreversible brain damage is the result of phenyl alanin accumulation, so its amount should be restricted in patients diet. In their diet, trace elements such as hem Iron, folic acid, vitamin B12 and, etc are also limited, and could represent anemia. In this study, the frequency of anemia in PKU patients in Yazd was investigated and compare with non-affected individuals. Materials and Methods In this case-control study, all the PKU patients of Yazd who were under diet at least for 6 months were selected. The controls were selected from non PKU population and matched with cases according to age, gender and socioeconomic level. Hematologic factors were measured in both groups and analyzed using SPSS software using T-Test. Results This study consisted of 18 patients aged between 1 to 18 years old. Full blood count and blood indices did not show significant difference (p>0.05), except MCHC (p<0.05). The blood level of vitamin B12 and Folic acid were significantly higher in the cases than controls (p<0.05), but ferritin was not significantly different between them (P>0.05). Conclusion Our results did not show significant difference in presentation of anemia in patients with PKU and normal controls. Screening for anemia among PKU patients and taking supplements is recommended. [ABSTRACT FROM AUTHOR]

Background The aim of the present study was to determine the endocrine dysfunction in patients with major thalassemia, who receive hyper transfusion. Materials and Methods This cross sectional study was performed during one year, which included 65 major thalassemia patients (31 females and 34 males), aged between 14 month to 27 years old (median 10,3). Growth assessment was measured by height and weight according to age and BMI. For all patients serum ferrites concentration, serum calcium and phosphorus, alkaline phosphates, fasting blood sugar, thyroid stimulating hormone, free thyroxin, FSH, LH, dehydroepiandrosterone sulfate, testosterone, estradiol were measured. Results In this study, 44.9% of patients were found to be shorter than the height of 5th percentile for their age. Diabetes mellitus and impaired fasting glucose were seen in 16% and 28.6% of patients respectively. There was significant correlation between serum ferritin level and impaired glucose tolerance test (p-value =0.043) in them. Frequency of hypocalcaemia and hyperphosphatemia were 36.9% and 10.7% respectively. Frequency of hypogonadism was 54.8%. Fourthy percent of the patients had no endocrine abnormalities. Conclusion Endocrine dysfunctions are extremely frequent in patients with thalassemia, but chelating therapy can prevent or limit these complications. Impaired glucose tolerance was one of the most frequent endocrine complications, which were related to ferritin level. [ABSTRACT FROM AUTHOR]

Introduction Major ß Thalassemia represents a group of recessively inherited hemoglobin disorder, which is characterized by reduced synthesis of globins chains. Frequent blood transfusions can lead to iron overload, which may result in several endocrine complication especially in the absence of adequate chelating therapy. The objective of this study were to determine the prevalence of hypothyroidism in transfusion dependent thalassemia patients treated in the hematology unit of Shahid Sadoughy hospital and determination of the correlation of hypothyroidism with the Ferritin level. Methods This study was cross-sectional study which was performed during one year. Sixty five patients, ages between 1.2 years to 27years old entered to this study (47.6%female and 52.4%male) For all of the patients T3-T4-T3RUP, TSH and ferritin level were tested. Results The mean age of the patients was 10.3 years (47.6% above 10years and 52.4% under 10years old). This study demonstrated that fourteen patients (21%) had hypothyroidism (1.5%overt low T4 and high TSH), which 7.6% was sub clinical (normal T4and high TSH and 12.3% secondary hypothyroidism) in other study prevalence hypothyroidism was 2.2%-16.5%. There was no correlation between hypothyroidism and serum ferritin level (P-value= 0.38) Conclusion The high rate of hypothyroidism indicates the importance of regular follow up of thalassemia patients to prevent complications. [ABSTRACT FROM AUTHOR]

Background: In Permanent congenital hypothyroidism (PCH) is a lifelong condition characterized by a deficiency in thyroid hormone, leading to various neurodevelopmental complications. Early clinical signs are often nonspecific and easily overlooked, but newborn screening programs have improved early detection., Methods: This narrative review aims to provide insights comparatively transient and permanent PCH and also the diagnosis, risk factors, underlying pathophysiology, and genetic causes associated with PCH. Relevant studies were identified through a comprehensive search using the term 'Permanent congenital hypothyroidism' (Mesh) across scientific databases of electronic databases such as PubMed, Scopus, and Web of Science., Results: Prompt initiation of thyroid hormone replacement therapy, particularly within the initial two weeks postpartum, crucially enhances neurocognitive development outcomes. Multiple predictive approaches, encompassing screening TSH levels, maternal thyroid history, and levothyroxine dosage per kilogram assessment, aid in identifying PCH. Recent studies have demonstrated a mounting prevalence of PCH, contributing significantly to the overall rise in CH incidence. Genetic factors, primarily DUOX2 and DUOXA2 mutations, alongside environmental influences such as post-term birth, low birth weight, and macrosomia, may induce PCH. Nonetheless, reliable markers for early PCH prediction upon diagnosis remain elusive, leading to delayed recognition post-ceasing levothyroxine treatment around age 3., Conclusions: Recent studies have observed an increased incidence of PCH, contributing substantially to the overall rise in cases of congenital hypothyroidism. Understanding the diagnostic options and genetic etiologies associated with PCH is crucial for the early identification and appropriate management., Competing Interests: The authors declare no conflict of interest., (© The Author(s).)

Almost 15-30% of patients with papillary thyroid carcinoma (PTC) experience some degree of recurrence after treatment. Long-term follow-up and examination after thyroidectomy are very important in dealing with this issue. Serum thyroglobulin (Tg) level and neck ultrasound are the main part of follow-up for this purpose. The presence of thyroglobulin antibodies (TgAbs) leads to unreliable thyroglobulin (Tg) levels. The present study aims to evaluate the relationship between the simultaneous measurement of Tg and TgAb with long-term survival and response to treatment in these patients. This study was conducted by surveying available data from the medical records of 204 out of 600 patients over a 20-year period. In this research, 104 patients with positive TgAb were considered as the case group, and 100 patients with negative TgAb were selected as the control group. The relationship of TgAb titer was investigated with the staging, response to treatment (including the surgery number, number of radiotherapies, and dose of radioactive iodine), and recurrence in these patients. Also, the trend of TgAb changes was examined in the presence of high or low thyroglobulin levels during the follow-up period. Patients with high TgAb levels had more lymph node involvement, higher cumulative dose, a higher number of times received iodine, more surgical number, higher recurrence rate, and less excellent response (ER) to treatment during follow-ups. This effect of TgAb worsened in the presence of high Tg titer and remained up to 36 months. Overall, the baseline level of TgAb and its changes can be a suitable factor for predicting subsequent response to treatment and recurrence in patients with PTC. Accordingly, in cases with high TgAb and Tg levels, close follow-up should be considered up to Tg and TgAb normalization., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)

Background: Coronavirus disease 2019 (COVID-19) has spread quickly. Comorbidities, such as diabetes, have been determined as critical risk factors for COVID-19., Objectives: This study aimed to determine the frequency and severity of diabetic ketoacidosis (DKA) in children before and during the COVID-19 pandemic., Methods: This retrospective study examined children aged less than 18 years diagnosed with DKA hospitalized in Yazd Shahid Sadoughi Hospital from February 20, 2020, to November 21, 2021. The collected information was compared to those obtained during the same period in 2019 (pre-pandemic). According to the inclusion criteria, only children with suspected symptoms of COVID-19 or an infected family member underwent PCR., Results: The study included 70 children with confirmed DKA during the COVID-19 pandemic and 33 children hospitalized during the pre-pandemic period. The findings showed that the rate of DKA was higher during the pandemic than in the pre-pandemic period. In the DKA subgroups (during the COVID-19 pandemic vs. pre-pandemic), 35.7% vs. 21.2% were severe, 37.1% vs. 36.4% were moderate, and 27.1% vs. 42.4% were mild. Of 70 children, 30 underwent PCR tests for COVID-19, showing six positive cases. Among positive cases, five had mild symptoms, while one was hospitalized with signs of respiratory distress, polyuria, and polydipsia. All physical examinations of this patient were normal, except for the chest exam., Conclusions: A remarkable increase was observed in the frequency and severity of DKA in children during the pandemic., Competing Interests: Conflict of Interests: The authors declare no competing interests., (Copyright © 2023, International Journal of Endocrinology and Metabolism.)

Congenital hypothyroidism (CH) occurs with a relatively alarming prevalence in infants, and if not diagnosed and treated in time, it can have devastating consequences for the development of the nervous system. CH is associated with genetic changes in several genes that encode transcription factors responsible for thyroid development, including mutations in the NK2 homeobox 1 (NKX2.1) gene, which encodes the thyroid transcription factor-1 (TTF-1). Although CH is frequently observed in pediatric populations, there is still a limited understanding of the genetic factors and molecular mechanisms contributing to this disease. The sequence of the NKX2.1 gene was investigated in 75 pediatric patients with CH by polymerase chain reaction (PCR), single-stranded conformation polymorphism (SSCP), and direct DNA sequencing. Four missense heterozygous variations were identified in exon 3 of the NKX2.1 gene, including three novel missense variations, namely c.708A>G, p.Gln202Arg; c.713T>G, p.Tyr204Asp; c.833T>G, p.Tyr244Asp, and a previously reported variant rs781133468 (c.772C>G, p.His223Gln). Importantly, these variations occur in highly conserved residues of the TTF-1 DNA-binding domain and were predicted by bioinformatics analysis to alter the protein structure, with a probable alteration in the protein function. These results indicate that nucleotide changes in the NKX2.1 gene may contribute to CH pathogenesis.

Antimicrobial peptides, as an important member of the innate immune system, have various biological activities in addition to antimicrobial activity. There are some AMPs with antidiabetic activity, especially those isolated from amphibians. These peptides can induce insulin release via different mechanisms based on peptide type. In this review study, we collected all reported AMPs with antidiabetic activity. We also analyze the sequence and structure of these peptides for evaluation of sequence and structure effect on their antidiabetic activity. Based on this review, the biggest peptide family with antidiabetic activity is temporins with nine antidiabetic peptides. Frogs are the most abundant source of antidiabetic peptides. Bioinformatics analysis showed that an increase of positive net charge and a decrease of hydrophobicity can improve the insulinotropic effect of peptides. Peptides with higher positive net charge and Boman index showed higher activity. Based on this review article, AMPs with antidiabetic activity, especially those isolated from amphibians, can be used as novel antidiabetic drug for type 2 diabetes disease. So, amphibians are potential sources for active peptides which merit further evaluation as novel insulin secretagogues. However, strategy for the increase of stability and positive activity as well as the decrease of negative side effects must be considered., Competing Interests: None of the authors have any conflicts of interest., (Copyright © 2021 Hossein Soltaninejad et al.)

Background: The prevalence of obesity is considered to be increased worldwide. Lack of mineral elements is one of the essential side effects of bariatric surgery as a trending treatment for obesity. We aimed to assess zinc deficiency among morbidly obese patients before and following different types of bariatric surgical procedures., Methods: In the present retrospective cohort study, 413 morbidly obese patients (body mass index (BMI) ≥ 40 kg/m2 or BMI ≥ 35 kg/m2 with a complication or risk factor, e.g., diabetes mellitus) were enrolled who received bariatric surgery, aged between 18 and 65 years old, and had a negative history of active consumption of alcohol and illicit drugs. Patients were assigned into three groups of bariatric surgeries: mini-gastric bypass, Roux-en-Y gastric bypass (RYGB), and sleeve gastrectomy (SG). We recorded baseline clinical and demographic characteristics and zinc serum levels during the preoperative and postoperative follow-up periods at three, six, and 12 months after the operation., Results: All patients with a mean age of 40.57 ± 10.63 years and a mean preoperative BMI of 45.78 ± 6.02 kg/m2 underwent bariatric surgery. 10.2% of the bariatric patients experienced zinc deficiency before the surgery, and 27.1% at 1 year after the surgery. The results showed that 27.7% of mini-gastric bypass patients, 29.8% of RYGB, and 13.3% of SG experienced zinc deficiency 12 months following surgery. We observed no statistical differences in the preoperative and postoperative zinc deficiency between different types of surgeries., Conclusion: A high prevalence of preoperative zinc deficiency among morbidly obese patients who underwent bariatric surgery was observed, which increased during the postoperative periods. We recommend assessing zinc serum levels and prescribing zinc supplements before the bariatric operation to alleviate the prevalence of zinc deficiency after the operation.

Synbiotic (probiotic bacteria and prebiotic) has beneficial effects on the gastrointestinal tract. This study was designed to investigate the effect of synbiotic supplementation on the growth of mild to moderate failure to thrive (FTT) children. A randomized, triple-blind, placebo-controlled trial was conducted involving 80 children aged 2-5 years with mild to moderate FTT, who were assigned at random to receive synbiotic supplementation (10 9 colony-forming units) or placebo for 30 days. The weights, height, and BMI were recorded in a structured diary, and the questionnaires were completed to monitor the numbers of infection episodes, gastrointestinal problems, admission to hospital, and appetite improvement during the study. Sixty-nine children completed the study. There were no differences in the demographic characteristic between the two groups. The mean weight was similar at baseline. After 30 days of intervention, the mean weight of the participants in the synbiotic group increased significantly than those in the placebo group (600 ± 37 vs. 74 ± 32 g/month P 0.000). BMI changes in synbiotic and placebo group were 0.44 and 0.07 kg/m 2 , and that the differences among the two groups were significant.(P 0.045) Furthermore, the height increment in synbiotic and placebo group was 0.41 and 0.37 cm respectively with no significant difference (P 0.761). Administration of 30-day synbiotic supplementation may significantly improve weight and BMI in Iranian children with mild to moderate FTT, but there is no effect on the height in this study. Further studies should be designed to found out the effect of synbiotic on growth parameters in undernourished and well-nourished children.

Background: Studies show the relationship between vitamin D deficiency and glucose metabolism disorders. The aim of this study was the evaluation of the effect of vitamin D administration in management of diabetes mellitus type 1 (T1D)., Methods: We evaluated the effect of supplementation with vitamin D on HbA1c levels of children and adolescents with T1D. In this before-after study, 70 subjects with T1D were enrolled. Fasting serum 25-hydroxyvitamin D, calcium, phosphate, alkaline phosphatase, glucose and HbA1c were measured at the initiation and after the administration of 50,000 IU of vitamin D3 biweekly for 3 months. The results were then compared using paired t-test. Between 70 patients, five patients were excluded from the study because they did not completed the study and finally 65 subjects finished the study., Results: Sixty-five patients including 35 children and 30 adolescents were recruited. Forty-three (66.1%) subjects had vitamin D deficiency (<30 ng/mL). Vitamin D administration leads to decrease of fast blood sugar and HbA1c levels significantly in treated group without effect on calcium and alkaline phosphatase levels. So, no significant alterations occurred in calcium and alkaline phosphatase levels after supplementation with vitamin D., Conclusions: This study showed that HbA1c may be reduced by administration of vitamin D to children and adolescents with T1D without changing the dose of insulin.

Background: The embryonic development of the thyroid gland is regulated by the expression of several candidate genes which are related to congenital hypothyroidism. These genes include the numerous critical thyroid transcription factors such as NKX2.1, NKX2.5, FOXE1, and PAX8. The molecular analysis of these loci will be essential to the explanation of the participation of these transcription activators in the etiology of hypothyroidism. Among them, the role of NKX2.5 is important during the early thyroid morphogenesis and in controlling thyroidal cell differentiation and migration. Importantly, NKX2.5 change nucleotides are recognized to be central to the genesis of congenital hypothyroidism., Methods: A case-control study was conducted in 65 unrelated patients, diagnosed with primary congenital hypothyroidism and all of them were diagnosed according to the clinical presentations of thyroid hypoplasia and without cardiovascular defects. Mutational screening of the entire NKX2-5 coding sequence was performed in a cohort of pediatric patients by PCR-SSCP and direct sequencing., Results: We identified two known variations 73C>T (R25C) and 63A>G (E21E) in patients with thyroid hypothyroidism. Both of them are located in conserved region of the gene and previously reported in cases with thyroid dysgenesis and congenital heart defects. There was a significance association between 63A>G variation with primary hypothyroidism (p=0.003)., Conclusions: These SNPs are probably related to thyroid hypoplasia because the allele frequency of the 63A>G polymorphism was significantly different in patients and controls and also R25C variation not observed in healthy cases.

Antimicrobial peptides are members of the immune system that protect the host from infection. In this study, a potent and structurally novel antimicrobial peptide was isolated and characterized from praying mantis Sphodromantis viridis. This 14-amino acid peptide was purified by RP-HPLC. Tandem mass spectrometry was used for sequencing this peptide, and the results showed that the peptide belongs to the Mastoparan family. The peptide was named Mastoparan-S. Mastoparan-S demonstrated that it has antimicrobial activities against a broad spectrum of microorganisms (Gram-positive and Gram-negative bacteria and fungi), and it was found to be more potent than common antibiotics such as kanamycin. Mastoparan-S showed higher antimicrobial activity against Gram-negative bacteria compared to Gram-positive ones and fungi. The minimum inhibitory concentration (MIC) values of Mastoparan-S are 15.1-28.3 µg/ml for bacterial and 19.3-24.6 µg/ml for fungal pathogens. In addition, this newly described peptide showed low hemolytic activity against human red blood cells. The in vitro cytotoxicity of Mastoparan-S was also evaluated on monolayer of normal human cells (HeLa) by MTT assay, and the results illustrated that Mastoparan-S had significant cytotoxicity at concentrations higher than 40 µg/ml and had no any cytotoxicity at the MIC (≤30 µg/ml). The findings of the present study reveal that this newly described peptide can be introduced as an appropriate candidate for treatment of topical infection.

Objective: Early diagnosis and treatment of congenital hypothyroidism (CH) and the prevention of developmental retardation is the main goal of public health national screening programs. This study compares the cognitive ability of children with CH diagnosed by neonatal screening with a healthy control group (2007) in Yazd, Iran., Materials & Methods: In a case-controlled study, the intelligent quotient (IQ) of 40 five-year-old children with early treated CH and good compliance were evaluated by the Wechsler preschool and primary scale of intelligent test and compared to 40 healthy age and gender matched children as controls., Results: 22 boys (55%) and 18 girls (45%) in both groups were evaluated. In children with CH, 19 (47.5%) and 21 (52.5%) persons had transient and permanent hypothyroidism, respectively. Range of TSH and T4 level at the onset of diagnosis were 11.41-81 mu/l and 1.50-14.20 μg/dl, respectively. The intelligence levels of all children with CH were within the average or normal range and IQs ranged from 91-108. Children with CH had lower full-scale IQs (107.25 ± 2. 9 versus 110.50 ± 2.66, p=0.001), verbal IQ (106.95 ± 3.5 versus 109.90 ± 3.44, P-value=0.001) and performance IQ (106.3 ± 3.68 versus 108.87 ± 3.70) than the control group. However, no statistically significant differences were observed for mean IQ scores in permanent and transient CH., Conclusion: Children with CH who had early treatment and good compliance had normal cognitive abilities, but may have a decreased IQ relative to the healthy control group.

Background: Endemic goiter is present in most parts of Iran. Iron deficiency adversely affects the physiology of thyroid. The initial steps of thyroid hormone synthesis are catalyzed by thyroperoxidases and are dependent on iron. In many developing countries, children are at high risk of both goiter and iron deficiency anemia. In addition, iron deficiency may alter central nervous system control of thyroid metabolism; andalso Iron-deficiency anemia decreases plasma concentrations of thyroxine and triiodothyronine., Material and Method: We conducted a randomized, double-blind,controlled trial in 2-12-y-old children with euthyroid goiter and without iron-deficiency anemia. THE CHILDREN WEREDIVIDED INTO TWO GROUPS: The Patients who were under treatment with ferrous-sulphat and controls .active treatment consisted of iron supplementation was administered orally with a dose of 2 mg/kg day. The duration of active treatment was 12 weeks., Results: In this study 40 children (female: 22, male: 18) were divided into two groups randomly. (20 patients in each group).There were no significant differences at baselines between groups with regard to gender, age and weigh. At the end of the study, the reduction of more than one grade of goiter was significant between iron-treated and placebo groups. In treatment group, 16 patients (80%) had decreased grade of goiter, while in the control group, 3 patients (15%) had grade reduction(P-value<0.001)., Conclusion: At the end of the study, decrease of more than one grade of goiter had significant differences between iron-treated and control groups.

Background: Congenital hypothyroidism is a condition of thyroid hormone deficiency. Approximately 1 in 4000 newborn infants has a deficiency of thyroid function. The aim of this study is determination of the prevalence of permanent and transient congenital hypothyroidism (CH) in Yazd, Iran., Methods: From May 2006 to June 2008, 35377 newborns were screened by measuring serum TSH obtained by heel prick. The neonates who had a TSH≥5mU/L were recalled for measurement of serum T4 and thyroid stimulating hormone (TSH) in venous samples. Based on the results of the secondary measurements (between days 7 and 28), neonates were considered hypothyroid if their T4 was <6.5 mg/dl and their TSH was ≥10mIU/L. In 22 primarily diagnosed as cases of CH, treatment was discontinued at age 3 years for 4 weeks and T4 and TSH were measured again. Permanent or transient CH was determined from the results of these tests; Patients with TSH levels ≥5 mIU/l were diagnosed with permanent CH., Results: The incidence of congenital hypothyroidism was found to be 1:1608 with a female to male ratio of 0.69:1. In 22 patients with CH, 10 patients were diagnosed with permanent CH (45.5%) and 12 with transient hypothyroidism (54.5%). Permanent CH was associated with higher TSH levels at first measurement than transient hypothyroidism (P-value=0.041)., Conclusion: The rate of transient CH in our study was higher than the comparable worldwide rate, so more and larger studies are needed to find clear information about the etiologic factors of this disease.

Objective: Hypothyroidism may be an exacerbating factor for primary headaches and migraine is one of the most common primary headaches in childhood. The purpose of this study was to evaluate the effect of treatment of subclinical hypothyroidism on children with migraine headache., Materials & Methods: In a quasi-experimental study, the severity and monthly frequency of headache of 25 migraineur children with subclinical hypothyroidism who were referred to the pediatric neurology clinic of Shahid Sadoughi University of Medical Sciences,Yazd, Iran between January 2010 and February 2011 and were treated with levothyroxine for two months were evaluated., Results: Thirteen girls (52%) and 12 boys (48%) with the mean age of 10.2 ± 2.76 years were evaluated. In children with hypothyroidism, the monthly frequency of headache (mean ± SD: 17.64 ± 9.49 times vs. 1.2 ± 1.1 times) and the severity of headache (mean± SD: 6.24±1.8 scores vs. 1.33 ± 0.87 scores) were significantly decreased by treatment., Conclusion: Based on the results of this study, treatment of subclinical hypothyroidism was effective in reducing migraine headaches. Therefore, it is logical to check thyroid function tests in migraineur children.