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.  https://www.selleckchem.com/products/GDC-0449.html  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.