Notes

Polluting the environment along with psychological medicines.
Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation. Conclusion We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.Objectives Established reference intervals of thyroid function in neonates are important; however, studies often consist of a small sample size or lack of clinical information. We aim to define reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) for infants aged 14-30 days. We also reviewed follow-up TSH for infants with initial values 10-20 mIU/L. Methods Venous TSH and FT4 of term babies aged 14-30 days with breast milk jaundice that had thyroid function test performed as part of a prolonged jaundice workout from September 2016 to March 2017 were analyzed. Electronic medical records were reviewed to ensure only well babies with no pathological causes of jaundice or conditions that may affect thyroid function were included. TSH and FT4 were analyzed using immunoassay analyzer Dxl 800, Beckman Coulter. Results There were no correlations between FT4 and TSH with gender, birth weight and ethnicity. Correlation coefficient between FT4 and total bilirubin was weak at 0.138 (p=0.001). No association was found between TSH and bilirubin levels. Mean FT4 was higher in the younger age group day 14-21 (p less then 0.01). There was no significant difference in TSH values between the age groups. Infants with mildly elevated TSH 10-20 mIU/L had normalized values on follow-up (mean, 11.41 vs. 4.42 mIU/L; p less then 0.01; 95%CI, 5.88-8.09). The following reference intervals (2.5-97.5th percentile) were derived FT4 day 14-21 (n=513) 11.59-21.00 pmoL/L; FT4 day 22-30 (n=66) 10.14-19.60 pmoL/L; TSH day 14-30 (n=579) 1.90-10.34 mIU/L. Comparison between studies showed variations of reference intervals with different manufacturer assays, age and methodology. Conclusions Our reference intervals would be useful in the clinical setting. Infants with mildly elevated TSH could be monitored first instead of immediate treatment.Objectives Holocarboxylase synthetase deficiency (HCSD) (OMIM #253270) is a rare inborn error of metabolism with an estimated annual incidence of 1 in 200,000 people. Typical manifestations of HCSD include eczema, alopecia, lactic acidosis and hyperammonemia. Diagnosis is made through genetic analysis. Case presentation Patient 1 was a 7-year-old girl with normal growth and development, presenting with severe hypoglycemia and metabolic acidosis. Her family reported that she was diagnosed as having ketotic hypoglycemia; she had five episodes of hypoglycemia and metabolic acidosis in past 4 years when her oral intake decreased during acute illness. Patient 2 was a 6-month-old female infant with normal growth and development, presenting with progressive generalized eczema and metabolic acidosis for the first time. We found that they both had hyperammonemia, hyperlactatemia, hyperketonemia, organic acids detected in urine and elevated C5OH acylcarnitine level by tandem mass spectrometry. HLCS gene analysis showed a homozygous pathogenic variant p.V363D in patient 1 and a pathogenic variant p.R508W compound with a novel splice site pathogenic variant c.2010-1G>A in patient 2. They have been on biotin treatment (10 mg/day for both of them) for more than 2 years and no more symptoms have occurred. Conclusions HCSD is a rare disease, and it can be fatal if severe metabolic acidosis occurs without timely management. Once the diagnosis is made, most of the patients with HCSD have good prognosis and normal life expectancy with biotin treatment.Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene. Case presentation 4-month-old twins were admitted with fever, respiratory distress, vomiting, diarrhea, and failure to thrive. Physical examination findings revealed developmental delay and hypotonia with no head control, and laboratory findings were severe anemia, neutropenia, and hypogammaglobulinemia. Despite normal vitamin B12 and folate levels, homocysteine and urine methylmalonic acid levels were elevated in both patients. Bone marrow examinations revealed hypocellular bone marrow in both cases. The patients had novel pathogenic homozygous c.241C>T (p.Gln81Ter) variant in the TCN2 gene. In both cases, with intramuscular hydroxycobalamin therapy, laboratory parameters improved, and a successful clinical response was achieved. Conclusions In infants with pancytopenia, growth retardation, gastrointestinal manifestations, and immunodeficiency, the inborn error of cobalamin metabolism should be kept in mind. Early diagnosis and treatment are crucial for better clinical outcomes. What is new? In literature, to date, less than 50 cases with TC deficiency were identified. In this report, we presented twins with TCN2 gene mutation. Both patients emphasized that early and aggressive treatment is crucial for achieving optimal outcomes. In this report, we identified a novel variation in TCN2 gene.Objectives Neera, nonfermented coconut inflorescence sap (NFCIS) from unopened spadix of Cocos nucifera L., is a well-known traditional beverage. But, scientific reports on its health benefits are limited. NFCIS is reported to exhibits free radical scavenging activity, and its chemical composition is found promising. In the present study, the effect of NFCIS on alleviating cisplatin-induced nephrotoxicity was analyzed in mice. Methods The renal toxicity was induced by cisplatin (16 mg/kg b.wt. ip) in Swiss albino mice. The antioxidant activity of NFCIS was evaluated by nitric oxide radical scavenging assay and phorbol-12-myristate-13-acetate-induced superoxide radical generation in mice peritoneal macrophages. Total polyphenolic content of sap was determined using Folin-Ciocalteu reagent. The phytochemicals present in NFCIS was identified using Fourier transform infrared (FT-IR) spectroscopy. Results NFCIS was found to scavenge nitric oxide (NO) radicals (IC50 = 32 ± 2.47 μL/mL) and shown to inhibit superoxide (SO) generation (53.5 ± 2.1%) in macrophages. High polyphenolic content (193 µg gallic acid/mL) was determined in the sap. The FT-IR spectrum of NFCIS revealed the presence of several phytochemicals indicate its pharmaceutical and nutritional value. Cisplatin-induced hike in urea, creatinine and lipid peroxidation was significantly decreased to 65.16, 87.74 and 53.41% by NFCIS, respectively. Hb (42.37%) and total count (72.81%) were also found to be increased. Additionally, the activity of antioxidant enzymes superoxide dismutase, catalase, glutathione peroxidase and reduced glutathione was enhanced to 53.06, 40, 52.22 and 38.49%, respectively. Conclusions Results indicate that NFCIS effectively alleviates cisplatin-mediated renal toxicity by its antioxidant activity.Objectives To investigate the association between sitting posture during the use of school furniture and changes in the spine in adolescents. Methods A cross-sectional study was conducted with 240 students. The sitting position on school furniture was collected five times (3, 6, 9, 12, and 15 min). Postural alteration of the spine was identified by direct observation in front of a symmetograph. Screening for scoliosis was obtained by Adams test. Results The presence of the factor away from the table presented higher percentages at times 3, 6, 9, and 15 min (24.2, 25, 29.2, and 26.7%, respectively). At 12 min, the highest frequency was the presence of poorly positioned lower limbs (25.8%). Associations were observed between poor sitting posture with changes in head anteriorization and retroversion of the pelvis among women and with thoracic hyperkyphosis in men. Conclusions The findings suggest that there are sex-dependent associations between poor sitting posture during use of school furniture and spinal alterations in adolescents.Objectives Parents play a significant role in promoting of healthy sexuality in adolescents. The purpose of the present study was to assess the effectiveness of a sexuality education intervention program to enhance parent-adolescent sexual communication. Methods This study was a randomized controlled field trial. Parents of male adolescent aged 13-16 years were recruited from eight public all-boys high schools in Karaj, Iran. A multi-stage stratified random sampling method was used and 102 parents were assigned into intervention and control groups. The recruitment and data collection process lasted from February to November 2019. Self-report demographic questionnaire and six general parenting and parent-adolescent sexual communication measures were used to assess the impact of intervention. Sexuality education program was presented for the parents of intervention group, in the form of four weekly 2-h sessions. Parents were assessed at the baseline, within one week post-intervention, and three-month follow-up less then 0.001) to sexual communication at each follow-up. Conclusions We identified the educational program as a promising tool for improving parent-adolescent communication regarding sexuality-related issues. This program provides the evidence for implementation of parent-based sexuality education programs.A non-reversible state of epithelial to mesenchymal transition (EMT) at term accumulates proinflammatory mesenchymal cells and predisposes fetal membrane to weakening prior to delivery at term. We investigated the induction of EMT in amnion epithelial cells (AEC) in response to inflammation and infection associated with spontaneous preterm birth (SPTB). For this, membranes from SPTB were screened for EMT markers. Primary AEC in culture were treated with TNF-α (10 and 50 ng/mL) and LPS (50 and 100 ng/mL) for 72 h. Cell shape index (SI) was determined based on morphological shift (microscopy followed by ImageJ software analysis). Immunocytochemistry and Western blot assessed changes in epithelial markers (cytokeratin-18 and E-cadherin) and mesenchymal markers (vimentin and N-cadherin). Involvement of transforming growth factor beta (TGF-β) in EMT induction and EMT associated inflammation was tested using specific markers (Western blot) and by measuring MMP9 (ELISA), respectively. We report that PTB is associated with fetal membrane EMT. TNF-α produced dose- and time-dependent induction of EMT; within 24 h by 50 ng/mL and after 72 h by 10 ng/mL. AEC showed mesenchymal morphology, lower E-cadherin, higher vimentin and N-cadherin and higher MMP9 compared to control. CD38 inhibitor 1 in vitro TNF-α-induced EMT was not associated with canonical TGF-β pathway. LPS, regardless of dose or time, did not induce EMT in AEC. We conclude that PTB with intact membranes is associated with EMT. Our data suggest that inflammation, but not infection, is associated with non-canonical activation of EMT and inflammation that can predispose membrane to undergo weakening.
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