"I'm Trying to Reach Out, I'm Trying to Find My People": A Mixed-Methods Investigation of the Link Between Sensory Differences, Loneliness, and Mental Health in Autistic and Nonautistic Adults.

Background: Rates of loneliness are substantially higher among autistic compared with nonautistic individuals. This observation refutes the persistent stereotype that autistic individuals are not motivated to seek meaningful social relationships. More plausibly, social environments systematically exclude people with higher levels of sensory differences, impeding on opportunities for autistic individuals to form meaningful relationships.

Phenotype of Parathyroid-targeted Deletion in Mice Is Strain-dependent.

Hyperparathyroidism jaw-tumor syndrome is an autosomal dominant disorder caused by mutations in the tumor suppressor gene, encoding parafibromin, and manifesting benign or malignant parathyroid tumors, ossifying jaw fibromas, uterine tumors, and kidney lesions. Sporadic parathyroid carcinomas also frequently exhibit inactivating mutations and loss of parafibromin. To study the role of in parathyroid cell proliferation in vivo, we generated mice with a parathyroid-specific deletion of Homozygous knockout mice on a mixed B6/129/CD1 background had decreased serum calcium and PTH and smaller parathyroid glands compared with heterozygous or wild-type littermates, whereas homozygous -null mice on other backgrounds exhibited no abnormalities in parathyroid gland function or development.

Influence of Vitamin D Deficiency on Cyclin D1-Induced Parathyroid Tumorigenesis.

Primary hyperparathyroidism (PHPT) is a common endocrinopathy for which several pathogenic mechanisms, including cyclin D1 overexpression, have been identified. Vitamin D nutritional status may influence parathyroid tumorigenesis, but evidence remains circumstantial. To assess the potential influence of vitamin D insufficiency/deficiency on initiation or progression of parathyroid tumorigenesis, we superimposed vitamin D insufficiency or deficiency on parathyroid tumor-prone parathyroid hormone-cyclin D1 transgenic mice.

Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.

In this narrative review, we present data gathered over four decades (1980-2020) on the epidemiology, pathophysiology and genetics of primary hyperparathyroidism (PHPT). PHPT is typically a disease of postmenopausal women, but its prevalence and incidence vary globally and depend on a number of factors, the most important being the availability to measure serum calcium and parathyroid hormone levels for screening. In the Western world, the change in presentation to asymptomatic PHPT is likely to occur, over time also, in Eastern regions.

Parathyroid Hormone Regulates Circulating Levels of Sclerostin and FGF23 in a Primary Hyperparathyroidism Model.

Parathyroid hormone (PTH) increases fibroblast growth factor 23 (FGF23), mediated both by protein kinase A (PKA) and Wnt signaling, and decreases expression of sclerostin, a Wnt antagonist derived from osteocytes. Patients with primary hyperparathyroidism (PHPT) have lower serum sclerostin levels than healthy controls, consistent with the idea of downregulation by PTH. Nevertheless, the relationship between FGF23 and sclerostin in PHPT is still unclear.

GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.

Context: Multiglandular and familial parathyroid disease constitute important fractions of primary hyperparathyroidism (PHPT). Germline missense variants of GCM2, a regulator of parathyroid development, were observed in familial isolated hyperparathyroidism and sporadic PHPT. However, as these previously reported GCM2 variants occur at relatively high frequencies in the population, understanding their potential clinical utility will require both additional penetrance data and functional evidence relevant to tumorigenicity.

Ellipsoid Spectacle Comparison of Plusoptix, Retinomax and 2WIN Autorefractors.

Background: Handheld devices can automatically give an estimate of refraction. The established method for refraction comparison using spherical equivalent (M) and J0, J45 vector transformations by Bland-Altman analysis is too complex for non-eye doctors involved with vision screening and remote vision clinics. Therefore, a simpler comparison technique was developed.

Mutations in EPHB4 cause human venous valve aplasia.

Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic anomaly, caused by mutations in the receptor tyrosine kinase EPHB4, was recently described, with these patients also presenting with venous insufficiency. Whether the venous anomalies are the result of an effect on VVs is not known.

Editor's Choice - A Comparison of Computed Tomography Angiography and Colour Duplex Ultrasound Surveillance Post Infrarenal Endovascular Aortic Aneurysm Repair: Financial Implications and Impact of Different International Surveillance Guidelines.

Objective: Use of colour duplex ultrasound (CDUS) and computed tomography angiography (CTA) for infrarenal endovascular aortic aneurysm repair (EVAR) surveillance differs in internationally published guidelines. This study aimed firstly to compare CDUS detection of significant sac abnormalities with CTA. Secondly, a sensitivity analysis was conducted to compare financial estimates of the, predominantly CDUS based, local and Society of Vascular Surgery (SVS) protocols, the risk stratified European Society of Vascular Surgery (ESVS) protocol, and the CTA based National Institute of Health and Care Excellence (NICE) protocol.

Trichromatic Enhanced Dynamic Color Screening on the PDI Check Nintendo 3DS Game.

Introduction: Classification of color deficiency has required substantial time and expense with the static Farnsworth-Munsell and Innova Rabin tests. Therefore, dynamic color tests were developed for the Nintendo 3DS.

Methods: Fifteen color deficient patients and 17 age-matched normals performed Rabin color test in addition to PDI Check dynamic color games resembling Farnsworth-Munsell presentation (version 0.

The Role of Comparisons in Judgments of Loneliness.

Loneliness-perceived social isolation-is defined as a discrepancy between existing social relationships and desired quality of relationships. Whereas most research has focused on existing relationships, we consider the standards against which people compare them. Participants who made downward social or temporal comparisons that depicted their contact with others as better (compared to other people's contact or compared to the past) reported less loneliness than participants who made upward comparisons that depicted their contact with others as worse (Study 1-3).

Hormonal regulation of biomineralization.

Biomineralization is the process by which organisms produce mineralized tissues. This crucial process makes possible the rigidity and flexibility that the skeleton needs for ambulation and protection of vital organs, and the hardness that teeth require to tear and grind food. The skeleton also serves as a source of mineral in times of short supply, and the intestines absorb and the kidneys reclaim or excrete minerals as needed.

Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas.

Objective: Primary hyperparathyroidism is most often caused by a sporadic single-gland parathyroid adenoma (PTA), a tumor type for which cyclin D1 is the only known and experimentally validated oncoprotein. However, the molecular origins of its frequent overexpression have remained mostly elusive. In this study, we explored a potential tumorigenic mechanism that could increase cyclin D1 stability through a defect in molecules responsible for its degradation.

Satisfiability Attack-Resistant Camouflaged Two-Dimensional Heterostructure Devices.

Reverse engineering (RE) is one of the major security threats to the semiconductor industry due to the involvement of untrustworthy parties in an increasingly globalized chip manufacturing supply chain. RE efforts have already been successful in extracting device level functionalities from an integrated circuit (IC) with very limited resources. Camouflaging is an obfuscation method that can thwart such RE.

Oculocardiac Reflex During ROP Exams.

Purpose: Reducing physiologic stress including bradycardia during staging eye exams for retinopathy of prematurity (ROP) is desirable. We observed heart rate change during routine retinopathy of prematurity eye examinations and compared the response with our ongoing study of oculocardiac reflex (OCR) elicited by uniform EOM tension during strabismus surgery.

Patients And Methods: Electrocardiograph was prospectively monitored during ROP exams featuring indirect ophthalmoscopy with Alfonso lid speculum and see-through scleral depressor without topical anesthesia.

The Impact of Re-Operation, Relatives and Race on the Oculocardiac Reflex During Strabismus Surgery.

Purpose: The oculocardiac reflex (OCR) is a trigeminovagal bradycardia elicited by tension on an extraocular muscle (EOM). Using three decades of observational data, we investigated whether or not individual strabismus patients are prone to oculocardiac reflex.

Patients And Methods: All patients undergoing strabismus surgery from 1992 to 2019 had deliberate 10-second, 200-gram square-wave tension on extraocular rectus muscles with anesthetic variables recorded.

Thickness Trends of Electron and Hole Conduction and Contact Carrier Injection in Surface Charge Transfer Doped 2D Field Effect Transistors.

One of the main limiting factors in the performance of devices based on two-dimensional (2D) materials is Fermi level pinning at the contacts, which creates Schottky barriers (SBs) that increase contact resistance and, for most transition metal dichalcogenides (TMDs), limit hole conduction. A promising method to mitigate these problems is surface charge transfer doping (SCTD), which places fixed charge at the surface of the material and thins the SBs by locally shifting the energy bands. We use a mild O plasma to convert the top few layers of a given TMD into a substoichiometric oxide that serves as a p-type SCTD layer.

CDK4/6 Dependence of Cyclin D1-Driven Parathyroid Neoplasia in Transgenic Mice.

The protein product of the cyclin D1 oncogene functions by activating partner cyclin-dependent kinases (cdk)4 or cdk6 to phosphorylate, thereby inactivating, the retinoblastoma protein pRB. Nonclassical, cdk-independent, functions of cyclin D1 have been described but their role in cyclin D1-driven neoplasia, with attendant implications for recently approved cdk4/6 chemotherapeutic inhibitors, requires further examination. We investigated whether cyclin D1's role in parathyroid tumorigenesis in vivo is effected primarily through kinase-dependent or kinase-independent mechanisms.

Smile (but only deliberately) though your heart is aching: Loneliness is associated with impaired spontaneous smile mimicry.

As social beings, humans harbor an evolved capacity for loneliness - perceived social isolation. Loneliness is associated with atypical affective and social processing, as well as physiological dysregulation. We investigated how loneliness influences spontaneous facial mimicry (SFM), an interpersonal response involved in social connection and emotional contagion.

Mutational Analysis of Parathyroid Adenomas.

Benign parathyroid adenoma is the most common cause of primary hyperparathyroidism, whereas malignant parathyroid carcinoma is exceedingly rare. Distinguishing parathyroid carcinoma from benign adenoma is often difficult, and may be considerably delayed even after surgical resection until the rigorous diagnostic criteria of local invasion of surrounding tissues and/or distant metastases are fulfilled. Thus, new insights into their respective molecular bases may potentially aid in earlier diagnostic discrimination between the two, as well as informing new directions for treatment.

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: New and future perspectives for parathyroid carcinoma.

This report summarizes published data on parathyroid cancer, with the inclusion of topics discussed at MEN2019: 16th International Workshop on Multiple Endocrine Neoplasia, 27-29 March 2019, Houston, TX, USA. An expert panel on parathyroid cancer was constituted by the Steering Committee to address key questions in the field. The objectives were to recap open forum discussion of interested parties from multiple disciplines.

Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska.

Background: Optic nerve hypoplasia (ONH), one of the most common causes of pediatric blindness in developed countries, has been difficult to directly quantify. We sought to measure optic nerve size in Alaskan pediatric patients with optic nerve hypoplasia using ultra-widefield fundus imaging.

Methods: Adult and pediatric patients underwent conventional ultra widefield fundus imaging (OPTOS, Dunfermline, Scotland) with manual image processing to determine optic nerve size validated against refractive error and nystagmus and compared to optical spectral domain tomography.

Interoception and Social Connection.

Interoception - the process of sensing bodily signals - has gained much interest in recent years, due to its role in physical and mental well-being. Here, we focus on the role of interoception in , which is a relatively new and growing research area. Studies in this area suggest that interoception may help in appraising physiological signals in social situations, but also that (challenging) social situations may reduce interoceptive processing by shifting attention from internally- to externally- focused.

School bus accommodation-relaxing skiascopy.

Objective: Accurate estimation of hyperopia and astigmatism is challenging in delayed children. Conventional skiascopy holds rows of increasing power ± lenses vertically in front of one eye. The school bus accommodation-relaxing skiascopy (SBA-RS) design holds child-friendly, lenses +1 to +10D horizontally so that a higher power fogs the nontested eye-relaxing accommodation without cycloplegia.