Pediatric Acute Liver Failure in Sickle Cell Disease.

Introduction: Sickle cell intrahepatic cholestasis (SCIC) is one of the rarest and the most severe acute hepatic manifestations of sickle cell disease (SCD) and it can rapidly progress to acute liver failure. It is associated with a high mortality rate, demanding prompt recognition and management.

Case Presentation: We report a case of a 7-year-old boy with a history of homozygous HbS SCD who presented to the emergency department with fever, increasing abdominal pain, and jaundice.

Interplay between TERT promoter mutations and methylation culminates in chromatin accessibility and TERT expression.

The telomerase reverse transcriptase (TERT) gene is responsible for telomere maintenance in germline and stem cells, and is re-expressed in 90% of human cancers. CpG methylation in the TERT promoter (TERTp) was correlated with TERT mRNA expression. Furthermore, two hotspot mutations in TERTp, dubbed C228T and C250T, have been revealed to facilitate binding of transcription factor ETS/TCF and subsequent TERT expression.

Genome-wide analysis of constitutional DNA methylation in familial melanoma.

Background: Heritable epigenetic alterations have been proposed as an explanation for familial clustering of melanoma. Here we performed genome-wide DNA methylation analysis on affected family members not carrying pathogenic variants in established melanoma susceptibility genes, compared with healthy volunteers.

Results: All melanoma susceptibility genes showed the absence of epimutations in familial melanoma patients, and no loss of imprinting was detected.

Genome-wide characterization of 5-hydoxymethylcytosine in melanoma reveals major differences with nevus.

Melanoma demonstrates altered patterns of DNA methylation that are associated with genetic instability and transcriptional repression of numerous genes. Active DNA demethylation is mediated by TET enzymes that catalyze conversion of 5-methylcytosine (mC) to 5-hydroxymethylcytosine (hmC). Loss of hmC occurs in melanoma and correlates with disease progression.

Sleep habits in infants: the role of maternal education.

Objective: Sleep disturbances are frequent in infants. Early development of sleep routines has a positive effect on sleep quality. The objective of this study was to assess the impact of maternal education on the development of infants' sleep habits (SHs).

[Infectious Mononucleosis and Cholestatic Hepatitis: A Rare Association].

Infectious mononucleosis is one of the major clinical manifestations of Epstein-Barr virus infection. In this syndrome, elevation of liver transaminase levels is common but cholestasis is rare, with few cases described in the literature. We present the case of a 14-year-old female adolescent, admitted to the Emergency Room with fever, odynophagia and cervical adenomegaly.

Ptosis, miosis and cats.

Horner's syndrome (HS) is caused by a disruption in the oculosympathetic pathway. Both congenital and acquired HS are unusual in children. Acquired HS can be caused by trauma, surgical intervention, tumours, vascular malformations or infection.

pmTOR is a marker of aggressiveness in papillary thyroid carcinomas.

Background: Activation of the mTOR pathway has been observed in thyroid cancer, but the biologic consequences regarding tumor behavior and patient prognosis remain poorly explored.

Methods: We aimed to evaluate the associations of the mTOR pathway with clinicopathologic and molecular features and prognosis through the immunocharacterization of pmTOR and pS6 expression (as readouts of the pathway) in a series of 191 papillary thyroid carcinomas.

Results: pmTOR expression was associated with distant metastases (P = .

Poorly Differentiated and Undifferentiated Thyroid Carcinomas.

Thyroid cancer is the most common endocrine malignancy and its incidence goes on increasing worldwide. The majority of thyroid tumours comprise well-differentiated (papillary and follicular) thyroid carcinomas that usually carry an excellent prognosis, while a minority progress to poorly differentiated carcinoma (PDTC) and, ultimately, to the highly aggressive and lethal undifferentiated carcinoma (UTC). Recently, some major advances have been made on the histologic and imunohistochemical identification, as well as on the molecular characterization of PDTC and UTC.

TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas.

Context: Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers.

Objectives: We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTCs).

Design: This was a retrospective observational study.