ABSTRACT
Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene. With these clinical and radiological findings, the case was diagnosed as Roberts syndrome. Full gene sequencing of the ESCO2 gene for the patient was done. In this patient, a novel frameshift mutation was identified in the ESCO2 gene
ABSTRACT
Objective: Jo evaluate the thiol/disulphide homeostasis in children with non-autoimmune subclinical hypothyroidism [SHT]
Subjects and Methods: Thiol/disulphide homeostasis, involving native thiol [SH], disulphide [SS], and total thiol [SS + SH], was evaluated in 60 children and adolescents who were negative for thyroid auto-antibodies [anti-thyroid per-oxidase, anti-thyroglobulin] and had a thyroid-stimulating hormone [TSH] value of >5 mlU/L, and in 40 sex- and age-matched healthy control subjects who were negative for thyroid autoantibodies and had normal TSH levels. Lipid profiles and urine iodine levels were also determined
Results: SH [466 +/- 32.8 vs. 462 +/- 32.1 |amol/L p = 0.59), SH + SS [508 +/- 34.0 vs. 506 +/- 32.7 |amol/L, p = 0.81), SS (21 +/- 5.5 vs. 22 +/- 5.8 Mmol/L, p = 0.41), SS/SH [4.5 +/- 1.2 vs. 4.8 ± 1.3%, p = 0.36], SS/SH + SS [4.1 +/- 1.0 vs. 4.3+/-1.1 %7 p = 0.36] and SH/SH + SS [91 +/- 2.1 vs. 91 +/- 2.1 %,p = 0.31] levels were similar in children with SHT and control subjects [p > 0.05]. There was no difference between total cholesterol, triglyceride, and low-density lipoprotein levels in SHT patients and controls. No difference was detected between the patients with or without iodine deficiency in the SHT group in terms of thiol/disulphide homeostasis parameters
Conclusion: The status of dynamic thiol/disulphide homeostasis did not change in children and adolescents with non-autoimmune SHT. Future studies are needed for the evaluation of oxidative stress in patients with long-standing non-autoimmune SHT