A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome.

Material And Methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling.

Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.

Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients.

Family relationships and sexual orientation disclosure to family by gay and bisexual men in Jamaica.

Gay and bisexual men in Jamaica encounter stigma and discrimination due to criminalization of and negative attitudes towards same-sex sexuality. Disclosure of sexual orientation may be self-affirming, but could increase exposure to negative responses and stressors. Outcomes of an online survey among 110 gay and bisexual Jamaican men ages 18 to 56 years suggest that disclosure to family is affected by level of economic independence.

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

Neurofibromatosis type 1 (NF1) is caused by mutations in the tumor suppressor gene NF1. The increased tumor risk in affected individuals is well established, caused by somatic biallelic inactivation of NF1 due to loss of heterozygosity. Pediatric teratoma has not been reported in individuals with NF1 previously.

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.

Context: Intronic DNA frequently encodes potential exonic sequences called pseudoexons. In recent years, mutations resulting in aberrant pseudoexon inclusion have been increasingly recognized to cause disease.

Objectives: To find the genetic cause of familial glucocorticoid deficiency (FGD) in two siblings.

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.

Silver-Russell syndrome (SRS) and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are described in isolation. However, their co-occurrence has only been rarely reported. Here, we present a case report of an adolescent with SRS who was diagnosed with MRKH during the evaluation of primary amenorrhoea.

Valuing psychiatric patients' stories: belief in and use of the supernatural in the Jamaican psychiatric setting.

The aim of this study was to examine illness presentation and understand how psychiatric patients make meaning of the causes of their mental illnesses. Six Jamaican psychiatric patients were interviewed using the McGill Illness Narrative Interview Schedule. Of the 6, 3 representative case studies were chosen.

Neurologic complaints in young children in the ED: when is cranial computed tomography helpful?

Main Objective: The objective of this study is to describe the use of emergent head computed tomography (CT) in young children and ask in which circumstances scans contributed to immediate management.

Methods: We reviewed electronic records of children, aged 1 month through 6 years, who received a head CT at a large suburban emergency department between February 2008 and February 2009. Age, sex, chief complaint, history, physical examination, indication for and results of head CT, red flags in history or physical examination, final disposition, and number of head CT scans performed to date were recorded.

Estrogen down-regulation of the Scx gene is mediated by the opposing strand-overlapping gene Bop1.

Recent genome-wide transcriptome studies suggest the presence of numerous bidirectional overlapping coding gene pairs in mammalian genomes. Various antisense RNAs are reported as non-coding RNAs that regulate the expression of sense RNA. However, it is still unclear whether the expression of bidirectional overlapping coding genes are regulated by the opposite strand gene transcript acting as a non-coding RNA.

Potential biological functions emerging from the different estrogen receptors.

Technological advances and new tools have brought about tremendous advances in elucidating the roles of estradiol and the estrogen receptors (ERs) in biological processes, especially within the female reproductive system. Development and analysis of multiple genetic models have provided insight into the particular functions of each of the ERs. This article reviews the insights into ER biology in female reproduction gained from the development and use of new types of experimental models.

Comparative developmental biology of the mammalian uterus.

The uterus is an essential organ for reproduction in mammals. Despite the importance of the uterus for the fertility and health of women and their offspring, relatively little is known about the hormonal, cellular, and molecular mechanisms that regulate development of the uterus in either the fetus or neonate. Disruption of uterine development in the fetus and neonate by genetic defects or exposure to endocrine disruptors can program the function of the uterus in the adult and lead to infertility, cancer, and even death.

The IGF system in the neonatal ovine uterus.

Postnatal development of the ovine uterus primarily involves uterine gland morphogenesis or adenogenesis. Adenogenesis involves the budding differentiation of the glandular epithelium (GE) from the luminal epithelium (LE) and then GE proliferation and coiling/branching morphogenetic development within the stroma between birth (postnatal day or PND 0) and PND 56. Insulin-like growth factor (IGF)-I and IGF-II mRNAs were previously found to be expressed only in the endometrial stroma, whereas the IGF receptor (IGF-1R) mRNA was most abundant in epithelia and in stroma, suggesting that an intrinsic IGF system regulates postnatal development of the uterus.

Neonatal estrogen exposure disrupts uterine development in the postnatal sheep.

Postnatal development of the ovine uterus between birth and postnatal day (PND) 56 involves budding differentiation of the endometrial glandular epithelium from the luminal epithelium (LE) followed by extensive coiling and branching morphogenesis of the tubular glands. To determine the short- and long-term effects of estrogen on neonatal ovine uterine development after PND 14, neonatal sheep were randomly assigned at birth (PND 0) to be treated daily with estradiol-17beta benzoate (EB; 0, 0.01, 0.

Ovarian regulation of endometrial gland morphogenesis and activin-follistatin system in the neonatal ovine uterus.

Postnatal development of the ovine uterus between birth and Postnatal Day (PND) 56 involves differentiation of the endometrial glandular epithelium from the luminal epithelium followed by tubulogenesis and branching morphogenesis. Previous results indicated that ovariectomy of ewes at birth did not affect uterine growth or initial stages of endometrial gland genesis on PND 14 but did affect uterine growth after PND 28. Available evidence from a number of species supports the hypothesis that the ovary does not affect endometrial gland morphogenesis in the postnatal uterus.

The activin-follistatin system in the neonatal ovine uterus.

Uterine gland development or adenogenesis in the neonatal ovine uterus involves budding and tubulogenesis followed by coiling and branching morphogenesis of the glandular epithelium (GE) from the luminal epithelium (LE) between birth (Postnatal Day [PND] 0) and PND 56. Activins, which are members of the transforming growth factor beta superfamily, and follistatin, an inhibitor of activins, regulate epithelial branching morphogenesis in other organs. The objective of the present study was to determine effects of postnatal age on expression of follistatin, inhibin alpha subunit, betaA subunit, betaB subunit, activin receptor (ActR) type IA, ActRIB, and ActRII in the developing ovine uterus.

Estrogen and antiestrogen effects on neonatal ovine uterine development.

Postnatal development of the ovine uterus between birth and Postnatal Day (PND) 56 involves differentiation of the endometrial glandular epithelium from the luminal epithelium followed by tubulogenesis and branching morphogenesis. These critical events coincide with expression of estrogen receptor alpha (ERalpha) by nascent endometrial glands and stroma. To test the working hypothesis that estrogen and uterine ERalpha regulate uterine growth and endometrial gland morphogenesis in the neonatal ewe, ewes were treated daily from birth (PND 0) to PND 55 with 1) saline and corn oil as a vehicle control (CX), 2) estradiol-17 beta (E2) valerate (EV), an ERalpha agonist, 3) EM-800, an ERalpha antagonist, or 4) CGS 20267, a nonsteroidal aromatase inhibitor.

Prolactin regulation of neonatal ovine uterine gland morphogenesis.

Uterine gland development or adenogenesis in the neonatal ovine uterus involves budding, proliferation, and branching morphogenesis of the glandular epithelium (GE) from the luminal epithelium (LE) between birth (postnatal day or PND 0) and PND 56. This critical developmental event is coincident with increases in serum PRL and expression of long and short PRL receptors specifically in the nascent and proliferating GE. In study one, ewes were treated with a placebo pellet as a control (CX) or a bromocryptine mesylate pellet from PNDs 0-56.