[Cryptorchidism: An update of advances in its diagnosis and treatment].

The absence of one or both testicles in the scrotal position is defined as cryptorchidism. It occurs in 1 - 8 % of full-term newborns and up to 45 % of preterm newborns. Its detection is of great importance due to its association with fertility disorders and the risk of malignancy.

Nocturnal Salivary Cortisol Is an Accurate Non-Invasive Test to Assess Endogenous Hypercortisolism in Children with Obesity and a Clinical Phenotype Suspicious for Cushing's Syndrome.

Introduction: Cushing's syndrome (CS) constitutes one of the most challenging diagnostic assessments for paediatric endocrinologists. The clinical presentation of some children with exogenous obesity overlaps with those observed in hypercortisolism states. Accurate, non-invasive first-line tests are necessary to avoid false-positive results in the obese.

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Context: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction, with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported.

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.

Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witteveen-Kolk syndrome (WITKOS, OMIM #613406) associated with 15q24 microdeletions encompassing . Whether hypogonadotropic hypogonadism is due to haploinsufficiency of or any of the other eight genes present in 15q24 is not known.

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary (neurohypophysis), can be congenital or acquired. When more than one pituitary hormone axis is impaired, the condition is known as combined pituitary hormone deficiency (CPHD). The deficiency may be primarily due to a hypothalamic or to a pituitary disorder, or concomitantly both, and has a negative impact on target organ function.

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

Growth hormone (GH) binding to GH receptor activates janus kinase 2 (JAK2)-signal transducer and activator of transcription 5b (STAT5b) pathway, which stimulates transcription of insulin-like growth factor-1 (IGF1), insulin-like growth factor binding protein 3 (IGFBP3) and insulin-like growth factor acid-labile subunit (IGFALS). Although STAT5B deficiency was established as an autosomal recessive disorder, heterozygous dominant-negative STAT5B variants have been reported in patients with less severe growth deficit and milder immune dysfunction. We developed an in vivo functional assay in zebrafish to characterize the pathogenicity of three human STAT5B variants (p.

Cognitive and Cultural Factors That Affect General Vaccination and COVID-19 Vaccination Attitudes.

The development of COVID-19 vaccines is a major scientific accomplishment that has armed communities worldwide with powerful epidemic control tools. Yet, COVID-19 vaccination efforts in the US have been marred by persistent vaccine hesitancy. We used survey methodology to explore the impact of different cognitive and cultural factors on the public's general vaccination attitudes, attitudes towards COVID-19 vaccines, and COVID-19 vaccination status.

Tipping the Fencesitters-The Impact of a Minimal Intervention Enhanced with Biological Facts on Swiss Student Teachers' Perception of HPV Vaccination Safety.

Not much is known about the role of scientific knowledge in vaccination decision making. This study is based on previous findings that the concern about the human papillomavirus (HPV) agent mutating back to a virulent HPV was common among Swiss student teachers and turned out to be one factor of vaccine hesitancy. The study investigate the impact of a standard public health brochure describing the effectiveness, safety, and importance of HPV vaccination on young student teachers, and the additional effect of supplementing the standard brochure with biological arguments against the mutation concerns.

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.

Introduction: Pubertal delay is described as one of the clinical features in Noonan syndrome (NS) and it may be one of the factors causing short adult height in those patients. The present study aimed at characterizing pubertal development in NS and identifying pubertal delay predictors.

Methods: We analyzed 133 individuals with a molecular diagnosis of NS and clinical puberty evaluation.

Factors Influencing Willingness to Share Health Misinformation Videos on the Internet: Web-Based Survey.

Background: The rapidly evolving digital environment of the social media era has increased the reach of both quality health information and misinformation. Platforms such as YouTube enable easy sharing of attractive, if not always evidence-based, videos with large personal networks and the public. Although much research has focused on characterizing health misinformation on the internet, it has not sufficiently focused on describing and measuring individuals' information competencies that build resilience.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated individuals with hypopituitarism that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor.

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Purpose: Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations in known and candidate genes for this disorder. It could also increase the proportion of patients that receive a genetic diagnosis.

Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors.

Introduction: Practice guidelines cannot recommend establishing a diagnosis of growth hormone deficiency (GHD) without performing growth hormone stimulation tests (GHST) in children with risk factors, due to the lack of sufficient evidence.

Objective: Our goal was to generate an evidence-based prediction rule to diagnose GHD in children with growth failure and clinically identifiable risk factors.

Methods: We studied a cohort of children with growth failure to build the prediction model, and a second, independent cohort to validate the prediction rule.

Dynamical Signatures of Quasiparticle Interactions in Quantum Spin Chains.

We study the transverse dynamical susceptibility of an antiferromagnetic spin-1/2 chain in the presence of a longitudinal Zeeman field. In the low magnetization regime in the gapless phase, we show that the marginally irrelevant backscattering interaction between the spinons creates a nonzero gap between two branches of excitations at small momentum. We further demonstrate how this gap varies upon introducing a second neighbor antiferromagnetic interaction, vanishing in the limit of a noninteracting "spinon gas.

Emergent Fermi Surface in a Triangular-Lattice SU(4) Quantum Antiferromagnet.

Motivated by multiple possible physical realizations, we study the SU(4) quantum antiferromagnet with a fundamental representation on each site of the triangular lattice. We provide evidence for a gapless liquid ground state of this system with an emergent Fermi surface of fractionalized fermionic partons coupled with a U(1) gauge field. Our conclusions are based on numerical simulations using the density matrix renormalization group method, which we support with a field theory analysis.

Three-Magnon Bound State in the Quasi-One-Dimensional Antiferromagnet α-NaMnO_{2}.

Here we report on the formation of a three-magnon bound state in the quasi-one-dimensional antiferromagnet α-NaMnO_{2}, where the single-ion, uniaxial anisotropy inherent to the Mn^{3+} ions in this material provides a binding mechanism capable of stabilizing higher order magnon bound states. While such states have long remained elusive in studies of antiferromagnetic chains, neutron scattering data presented here demonstrate that higher order n>2 composite magnons exist, and, specifically, that a weak three-magnon bound state is detected below the antiferromagnetic ordering transition of NaMnO_{2}. We corroborate our findings with exact numerical simulations of a one-dimensional Heisenberg chain with easy-axis anisotropy using matrix-product state techniques, finding a good quantitative agreement with the experiment.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

Background: The most frequent monogenic causes of growth hormone insensitivity (GHI) include defects in genes encoding the GH receptor itself (GHR), the signal transducer and activator of transcription (STAT5B), the insulin like-growth factor type I (IGF1) and the acid-labile subunit (IGFALS). GHI is characterized by a continuum of mild to severe post-natal growth failure.

Objective: To characterize the molecular defect in a patient with short stature and partial GHI.

p.R209H GH1 variant challenges short stature assessment.

Objective: to describe the marked variability in clinical and biochemical patterns that are associated with a p.R209H GH1 missense variant in a large Argentinean pedigree, which makes the diagnosis of GHD elusive.

Design: We describe a non-consanguineous pedigree composed by several individuals with short stature, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (IGHD) and 4 other siblings with severe short stature, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Background: IGF1 is a key factor in fetal and postnatal growth. To date, only three homozygous IGF1 gene defects leading to complete or partial loss of IGF1 activity have been reported in three short patients born small for gestational age. We describe the fourth patient with severe short stature presenting a novel homozygous IGF1 gene mutation.

Proliferation of Resident Macrophages Is Dispensable for Protection during Infections.

Infection with the intestinal parasite is one of the most common causes of diarrheal disease in the world. Previous work has demonstrated that the cells and mechanisms of the adaptive immune system are critical for clearance of this parasite. However, the innate system has not been as well studied in the context of infection.

Evidence of topological superconductivity in planar Josephson junctions.

Majorana zero modes-quasiparticle states localized at the boundaries of topological superconductors-are expected to be ideal building blocks for fault-tolerant quantum computing. Several observations of zero-bias conductance peaks measured by tunnelling spectroscopy above a critical magnetic field have been reported as experimental indications of Majorana zero modes in superconductor-semiconductor nanowires. On the other hand, two-dimensional systems offer the alternative approach of confining Majorana channels within planar Josephson junctions, in which the phase difference φ between the superconducting leads represents an additional tuning knob that is predicted to drive the system into the topological phase at lower magnetic fields than for a system without phase bias.

Evaluating the Quality of Health Information in a Changing Digital Ecosystem.

Background: Critical evaluation of online health information has always been central to consumer health informatics. However, with the emergence of new Web media platforms and the ubiquity of social media, the issue has taken on a new dimension and urgency. At the same time, many established existing information quality evaluation guidelines address information characteristics other than the content (eg, authority and currency), target information creators rather than users as their main audience, or do not address information presented via novel Web technologies.

Behavioral Interventions Using Consumer Information Technology as Tools to Advance Health Equity.

The digital divide related to consumer information technologies (CITs) has diminished, thus increasing the potential to use CITs to overcome barriers of access to health interventions as well as to deliver interventions situated in the context of daily lives. However, the evidence base regarding the use and impact of CIT-enabled interventions in health disparity populations lags behind that for the general population. Literature and case examples are summarized to demonstrate the use of mHealth, telehealth, and social media as behavioral intervention platforms in health disparity populations, identify challenges to achieving their use, describe strategies for overcoming the challenges, and recommend future directions.