Skeletal phenotypes in postmenopausal women affected by primary hyperparathyroidism.

Purpose: The current primary hyperparathyroidism (PHPT) presents as a mild disease. We explored skeletal phenotypes in postmenopausal women affected by PHPT, focusing on fracture prevalence.

Methods: PHPT women were retrospectively evaluated at four Italian centers for osteoporosis management (two centers in Milan, = 244; Cuneo, = 128; Pisa, = 131).

The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report.

Background: Brown tumors are rare bone manifestations of primary hyperparathyroidism (PHPT) that may occur at different sites either as single or multiple lesions and they can easily be mistaken for malignant lesions. Neither bone site nor morphological or functional imaging are useful to drive the differential diagnosis and biopsy is often the only conclusive procedure.

Case Description: We report the case of a 53 years-old man referred to our outpatient clinic for severe symptomatic PHPT complicated by nephrolithiasis and osteoporosis.

Persistent primary hyperparathyroidism caused by an ectopic adenoma in the piriform sinus: case report and review of the literature.

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder in which surgery is the only curative therapy. Ectopic parathyroid adenoma in the pyriform sinus resulting from a pathological migration of parathyroid glands along the embryological development is a rare cause of PHPT. We describe a case of a persistent primary hyperparathyroidism after previous unsuccessful surgery due to an ectopic parathyroid adenoma within the pyriform sinus and we review the previous reports on this issue.

Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis.

Context: Atypical parathyroid tumor (APT) represents a neoplasm characterized by histological features typical of parathyroid carcinoma (PC) but lacking local infiltration and/or distant metastasis, leading to uncertainty regarding its malignant potential.

Objective: To characterize the molecular landscape and deregulated pathways in APT.

Methods: Whole-exome sequencing (WES) was conducted on 16 APTs.

Acute and long-term outcomes of SARS-CoV-2 infection in school-aged children in England: Study protocol for the joint analysis of the COVID-19 schools infection survey (SIS) and the COVID-19 mapping and mitigation in schools (CoMMinS) study.

Background: The symptom profiles of acute SARS-CoV-2 infection and long-COVID in children and young people (CYP), risk factors, and associated healthcare needs, are poorly defined. The Schools Infection Survey 1 (SIS-1) was a nationwide study of SARS-CoV-2 infection in primary and secondary schools in England during the 2020/21 school year. The Covid-19 Mapping and Mitigation in Schools (CoMMinS) study was conducted in schools in the Bristol area over a similar period.

Familial states of primary hyperparathyroidism: an update.

Background: Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism-jaw tumor (HPT-JT). The latter consists of familial hypocalciuric hypercalcemia (FHH) types 1, 2 and 3, neonatal severe primary hyperparathyroidism (NSHPT), and familial isolated primary hyperparathyroidism (FIHP).

Can computer simulation support strategic service planning? Modelling a large integrated mental health system on recovery from COVID-19.

Background: COVID-19 has had a significant impact on people's mental health and mental health services. During the first year of the pandemic, existing demand was not fully met while new demand was generated, resulting in large numbers of people requiring support. To support mental health services to recover without being overwhelmed, it was important to know where services will experience increased pressure, and what strategies could be implemented to mitigate this.

When to suspect infantile hypercalcemia-1?

Purpose: The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D/24,25(OH)D ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed.

Evaluating the impact on health outcomes of an event that resulted in a delay in contact tracing of COVID-19 cases in England, September 2020: an observational study.

Objective: In September 2020, 15 861 SARS-CoV-2 case records failed to upload from the Second Generation Surveillance System (SGSS) to the Contact Tracing Advisory Service (CTAS) tool, delaying the contact tracing of these cases. This study used CTAS data to determine the impact of this delay on population health outcomes: transmission events, hospitalisations and mortality. Previously, a modelling study suggested a substantial impact.

Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.

Purpose: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism, deafness, and renal abnormalities. The disorder is caused by the haploinsufficiency of the zinc finger transcription factor GATA3 and exhibits a great clinical variability with an age-dependent penetrance of each feature. We report two unrelated kindreds whose probands were referred to our outpatient clinic for further evaluation of hypoparathyroidism.

Approach to the Patient With Parathyroid Carcinoma.

Parathyroid carcinoma (PC) is usually associated with severe symptomatic primary hyperparathyroidism (PHPT) and accounts for less than 1% of all cases of PHPT and approximately 0.005% of all cancers. PC most commonly occurs as a sporadic disease and somatic CDC73 mutations can be detected in up to 80% of cases.

Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.

Background: Multiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to describe cutaneous lesions and other non-endocrine manifestations of in a cohort of patients with familial (F) and sporadic (S) , compare the prevalence of these manifestations between the two cohorts, and investigate the correlation with mutation status.

Methods: We collected phenotypic and genotypic data of 185 patients with F- and S- followed from 1997 to 2022.

"Image quality evaluation of the Precise image CT deep learning reconstruction algorithm compared to Filtered Back-projection and iDose: a phantom study at different dose levels".

Purpose: To characterize the performance of the Precise Image (PI) deep learning reconstruction (DLR) algorithm for abdominal Computed Tomography (CT) imaging.

Methods: CT images of the Catphan-600 phantom (equipped with an external annulus) were acquired using an abdominal protocol at four dose levels and reconstructed using FBP, iDose (levels 2,5) and PI ('Soft Tissue' definition, levels 'Sharper','Sharp','Standard','Smooth','Smoother'). Image noise, image non-uniformity, noise power spectrum (NPS), target transfer function (TTF), detectability index (d'), CT numbers accuracy and image histograms were analyzed.

Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the gene.

The gene is crucial for bone development and homeostasis. Homozygous mutations in cause severe bone fragility known as osteogenesis imperfecta type XV. Moreover, heterozygous mutations have been found in adults with early-onset osteoporosis.

Steroid treatment in the management of destructive thyrotoxicosis induced by PD1 blockade.

Objective: Destructive thyroiditis is the most common endocrine immune-related adverse event (iRAEs) in patients treated with anti-PD1/PD-L1 agents. Given its self-limited course, current guidelines recommend no treatment for this iRAE. Nevertheless, in patients with enlarged thyroid volume and a poor performance status, thyrotoxicosis may be particularly severe and harmful.

Automated Prediction of the Response to Neoadjuvant Chemoradiotherapy in Patients Affected by Rectal Cancer.

Background: Rectal cancer is a malignant neoplasm of the large intestine resulting from the uncontrolled proliferation of the rectal tract. Predicting the pathologic response of neoadjuvant chemoradiotherapy at an MRI primary staging scan in patients affected by locally advanced rectal cancer (LARC) could lead to significant improvement in the survival and quality of life of the patients. In this study, the possibility of automatizing this estimation from a primary staging MRI scan, using a fully automated artificial intelligence-based model for the segmentation and consequent characterization of the tumor areas using radiomic features was evaluated.

Statement of the Italian Association of Medical Physics (AIFM) task group on radiation dose monitoring systems.

The evaluation of radiation burden in vivo is crucial in modern radiology as stated also in the European Directive 2013/59/Euratom-Basic Safety Standard. Although radiation dose monitoring can impact the justification and optimization of radiological procedure, as well as effective patient communication, standardization of radiation monitoring software is far to be achieved. Toward this goal, the Italian Association of Medical Physics (AIFM) published a report describing the state of the art and standard guidelines in radiation dose monitoring system quality assurance.

A single phantom, a single statistical method for low-contrast detectability assessment.

Purpose: The assessment of low-contrast-details is a part of the quality control (QC) program in digital radiology. It generally consists of evaluating the threshold contrast (Cth) detectability details for different-sized inserts, appropriately located in dedicated QC test tools. This work aims to propose a simplified method, based on a statistical model approach for threshold contrast estimation, suitable for different modalities in digital radiology.

Radiofrequency electromagnetic fields from mobile communication: Description of modeled dose in brain regions and the body in European children and adolescents.

Background: Little is known about radiofrequency electromagnetic fields (RF) from mobile technology and resulting dose in young people. We describe modeled integrated RF dose in European children and adolescents combining own mobile device use and surrounding sources.

Methods: Using an integrated RF model, we estimated the daily RF dose in the brain (whole-brain, cerebellum, frontal lobe, midbrain, occipital lobe, parietal lobe, temporal lobes) and the whole-body in 8358 children (ages 8-12) and adolescents (ages 14-18) from the Netherlands, Spain, and Switzerland during 2012-2016.

Association between estimated whole-brain radiofrequency electromagnetic fields dose and cognitive function in preadolescents and adolescents.

Objective: To investigate the association between estimated whole-brain radiofrequency electromagnetic fields (RF-EMF) dose, using an improved integrated RF-EMF exposure model, and cognitive function in preadolescents and adolescents.

Methods: Cross-sectional analysis in preadolescents aged 9-11 years and adolescents aged 17-18 years from the Dutch Amsterdam Born Children and their Development Study (n = 1664 preadolescents) and the Spanish INfancia y Medio Ambiente Project (n = 1288 preadolescents and n = 261 adolescents), two population-based birth cohort studies. Overall whole-brain RF-EMF doses (mJ/kg/day) were estimated for several RF-EMF sources together including mobile and Digital Enhanced Cordless Telecommunications phone calls (named phone calls), other mobile phone uses than calling, tablet use, laptop use (named screen activities), and far-field sources.

Estimated whole-brain and lobe-specific radiofrequency electromagnetic fields doses and brain volumes in preadolescents.

Objective: To assess the association between estimated whole-brain and lobe-specific radiofrequency electromagnetic fields (RF-EMF) doses, using an improved integrated RF-EMF exposure model, and brain volumes in preadolescents at 9-12 years old.

Methods: Cross-sectional analysis in preadolescents aged 9-12 years from the Generation R Study, a population-based birth cohort set up in Rotterdam, The Netherlands (n = 2592). An integrated exposure model was used to estimate whole-brain and lobe-specific RF-EMF doses (mJ/kg/day) from different RF-EMF sources including mobile and Digital Enhanced Cordless Telecommunications (DECT) phone calls, other mobile phone uses than calling, tablet use, laptop use, and far-field sources.

Association of Exposure to Ambient Air Pollution With Thyroid Function During Pregnancy.

Importance: Air pollutants interact with estrogen nuclear receptors, but their effect on thyroid signaling is less clear. Thyroid function is of particular importance for pregnant women because of the thyroid's role in fetal brain development.

Objective: To determine the short-term association of exposure to air pollution in the first trimester with thyroid function throughout pregnancy.

Prenatal and postnatal exposure to air pollution and emotional and aggressive symptoms in children from 8 European birth cohorts.

Background: The association between air pollution exposure and emotional and behavioural problems in children is unclear. We aimed to assess prenatal and postnatal exposure to several air pollutants and child's depressive and anxiety symptoms, and aggressive symptoms in children of 7-11 years.

Methods: We analysed data of 13182 children from 8 European population-based birth cohorts.