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Sepsis is one of the most common causes of death in patients admitted to intensive care units (ICUs). The development of sepsis is significantly influenced by genetic predisposition. In this study, we highlight a potential association between a variant of the fat mass and obesity-associated (FTO) gene and risk of sepsis in children and adolescents. We investigated a first-intron tagging FTO polymorphism (rs17817449) by comparing a severe condition (SC) group, comprising 598 paediatric patients (ages 0–19 years) admitted to an ICU with fever, systemic inflammatory response syndrome (SIRS), sepsis, severe sepsis, septic shock, or multiple organ dysfunction syndrome (MODS), with a control group consisting of 616 healthy young adults. We observed a lower prevalence (p < 0.01; OR = 0.59, 95% CI = 0.39–0.87) of the FTO TT genotype in febrile and SIRS patients compared to patients with severe illness. There was a borderline trend towards a lower prevalence of the FTO TT genotype in the control group compared to the SC group (p < 0.09, OR = 0.81, 95% CI = 0.62–1.06). Our findings suggest that rs17817449, a common FTO polymorphism, may be a predictor of sepsis in paediatric patients, and that higher body weight is protective against this clinical complication. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Autoimmune hepatitis is a chronic liver disease caused by a dysfunctional immune system. It is widely believed that autoimmune hepatitis accumulates in families. We found that autoimmune hepatitis does accumulate in monozygotic twins. CASE REPORT: We present middle-aged monozygotic female twins developing autoimmune hepatitis consecutively within two years. Both twins had developed Graves' disease and were treated with carbimazole before the onset of autoimmune hepatitis. Both were cigarette smokers. The twins were treated with budesonide and azathioprine, which normalised liver parameters. CONCLUSIONS: This case report supports the hypothesis that a genetic factor might be of great importance in the aetiology of autoimmune hepatitis. [ABSTRACT FROM AUTHOR]

Lymphedema is the swelling of a part of the body due to the accumulation of lymphoid fluid in the subcutaneous soft tissue as a result of abnormalities in lymphatic drainage. Primary lymphedema is thought to have a mixed genetic component that arises from the erroneous development of the lymphatic system, which is also responsible for the malfunction of the lymphatic system. This condition can be sporadic or genetic. In this case present a 25-year-old male patient. The patient reported a bite on his finger because of a poisonous fish at age 18 years. Afterwards, he reported marked lymphedema, which gradually and progressively spread from the left ankle to the left thigh. Then, the patient was diagnosed as primary lymphedema praecox and classified as stage 2. In this case report, it is aimed to elucidate the genetic disease associated with primary lymphedema and to expatiate on the management of this chronic disease. [ABSTRACT FROM AUTHOR]

Objectives: The number of enucleations and visual sequels due to retinoblastoma is high. The aim of this study was to evaluate the different diagnostic aspects and propose strategies that might improve the clinical management of this condition., Method: A retrospective study was conducted on 38 patients with retinoblastoma studied genetically (29 unilateral, 9 bilateral). The evaluation included: age of onset, clinical signs, and time since onset, number of enucleations, time to diagnosis, and survival at 5 years., Results: Leukocoria was the main clinical sign (present in 90% of cases). The mean diagnostic delay was 3.2 months. Among the unilateral cases, the eyes were enucleated in 76%, and 55% in the bilateral forms. Only one death was found among the 25 patients followed-up for at least 5 years., Conclusions: Retinoblastoma diagnostic and treatment strategies need to be updated. Good coordination between paediatricians and ophthalmologists is essential for this. Its management in reference centres, which have the necessary technology and experience, should contribute to increase the rate of organ preservation., (Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)