Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection, responsible for Coronavirus Disease 2019 (COVID-19), exhibits a spectrum of clinical manifestations, ranging from asymptomatic to severe pulmonary dysfunction or death. The variability in COVID-19 severity has largely been attributed to the host's genetic characteristics, suggesting a polygenic genetic architecture, without significant strong evidence of sex-related genetic differences. In this Italian retrospective case-control study, we investigated the association between COVID-19 severity (severe vs.

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay, and slight facial features. Genomic variants inactivating or impairing its protein product kinase activity have been reported, making next-generation sequencing (NGS) and chromosomal microarray analysis (CMA) the standard diagnostic tests. We report a suspicious case of CDD in a female child who tested negative upon NGS and CMA and harbored an X chromosome de novo pericentric inversion.

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a diagnostic point of view, highlighting possible gene disruption and addressing to appropriate genotype-phenotype association. Structural rearrangements can either occur randomly within the genome or present with a recurrence, mainly due to peculiar genomic features of the surrounding regions.

Lessons for a digital future from the school of the pandemic: From distance learning to virtual reality.

The unexpected onset of the pandemic emergency placed so-called Distance Learning (DL) at the center of the academic world, affecting students and teachers across all formative steps. The DL experience has opened up the way for many queries in terms of research on the front of education, besides showcasing instances of innovation within the schooling institution, both increasingly urgent and no longer deferrable. The collective shock that started in March of 2020 was an opportunity to incentivize a leap in evolution, heavily digital in nature, within the educational system; howbeit, the generation of digital natives were already, prior to the onset of COVID-19, waiting to sense greater openness in the Italian school system toward newer technologies, in addition to less standardized, more innovative, creative and hybrid didactic formulas.

Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.

Background: Spinal muscular atrophy (SMA) is due to the homozygous absence of in around 97% of patients, independent of the severity (classically ranked into types I-III). The high genetic homogeneity, coupled with the excellent results of presymptomatic treatments of patients with each of the three disease-modifying therapies available, makes SMA one of the golden candidates to genetic newborn screening (NBS) (SMA-NBS). The implementation of SMA in NBS national programmes occurring in some countries is an arising new issue that the scientific community has to address.

Developing and piloting a communication assessment tool assessing patient perspectives on communication with pharmacists (CAT-Pharm).

Background: Effective communication strategies in health care help to enhance patient empowerment and improve clinical outcomes.

Objective: Adapt the original Communication Assessment (CAT) instrument for the pharmacist profession (CAT-Pharm) and to test its validity and reliability in two different settings.

Setting: Five hospital pharmacies in Italy and five community pharmacies in Malta.

The European COVID-19 drugs calculation tool: an aid for the estimation of the drugs needed during the SARS-CoV 2 pandemic.

Objective: To create an informatics supportive tool, which can assist healthcare professionals in estimating potential requirements for essential drug supplies to respond to the current SARS-CoV-2 pandemic based on epidemiological forecasting.

Methods: The tool was based on a Susceptible-Infected-Removed (SIR) epidemiological model in which the population is divided into three compartments and transmission parameters are specified to define the rate at which people move between stages. Appropriate data entry was guaranteed by the creation of structured guided paths.

Role of the hospital pharmacist in an Italian antimicrobial stewardship programme.

Unlabelled: The inappropriate use of antimicrobial agents is contributing to an increasing phenomenon of bacterial resistance. For this reason, there is a growing interest in 'antimicrobial stewardship', a series of coordinated and multidisciplinary interventions aimed to promote the safe and appropriate use of antimicrobials in which the pharmacist's contribution is necessary for the optimal choice of drug, dose, duration of therapy and the implementation of cost containment strategies.

Aim Of The Study: We wanted to create a reference model and a specific training manual on antibiotic stewardship to introduce the role of the department pharmacist with specific infection disease skills in the Italian health system hospitals.

Blindness influences the growth of institutionalized prepubertal subjects.

To investigate if blindness influences the growth rate of young subjects we measured height and weight of 71 prepubertal blind subjects (33 females and 38 males) aged 7-10 yr, in Tanner stage one puberty, living at the Institute "Martuscelli" for young blind individuals in Naples, Italy. They were divided into two groups: group 1 consisting of 27 subjects (14 females and 13 males) with total blindness; group 2 consisting of 44 subjects (20 females and 24 males) having only a light perception. The distribution in quintiles of their height and weight was compared by X2 test for trend to that of an age-matched large population (7902 subjects: 3808 females and 4094 males) of primary school from the same district.

Plasma thyrotropin, thyroxine, triiodothyronine, free thyroxine, free triiodothyronine, and cortisol levels in blind prepubertal boys.

Findings on thyroid function in blind subjects are lacking. The aim of this study was to investigate the thyroid hormonal pattern in prepubertal blind subjects. Six healthy and 8 blind males, aged 7-10 yr, in Tanner stage one puberty, living at Institute "Martuscelli" for blind young subjects, Napoli, Italy, were studied.

Dysgerminoma in 45,X Turner syndrome: report of a case.

Here we report the fourth case of dysgerminoma in a patient with the syndrome of gonadal dysgenesis and 45,X karyotype. Typical Turner's syndrome features were unusually associated with breast development, menarche and secondary amenorrhoea. Exaggerated basal and GnRH stimulated gonadotrophin and low oestradiol levels were typical of post-pubertal Turner's syndrome.

Prepubertal endocrine follow-up in subjects with Wilms' tumor.

Twenty-three prepubertal subjects treated for Wilms' tumor (10 males and 13 females) were endocrinologically evaluated off therapy from 0.5 to 4.08 years.

Influence of blindness on plasma luteinizing hormone, follicle-stimulating hormone, prolactin, and testosterone levels in prepubertal boys.

The aim of this study was to determine if changes in LH, FSH, PRL, and testosterone (T) secretion occur in blind prepubertal boys. Eight blind and six normal boys, aged 7-10 yr, living at an institute for blind subjects in Naples, Italy, were studied. Each had a combined GnRH (100 micrograms) and TRH (200 micrograms) test at 0800 h after nocturnal rest.

Thyroid localization in adult histiocytosis X.

Authors report on a rare case of thyroid involvement by histiocytosis X. A 27-yr-old man with diabetes insipidus and lung bullous disease of 2 yr duration was found to have thyroid gland infiltration by differentiated histiocytosis X. This was based on cytological findings consistent with the diagnosis, obtained by fine needle aspiration biopsy.

Isosexual precocious pseudopuberty secondary to a testosterone-secreting Leydig cell testicular tumour: true isosexual development early after surgery.

The paper reports on a 6-year-old boy with precocious pseudopuberty due to androgen hypersecretion by a testicular interstitial cell tumour. Steroidogenesis, characterized by high testosterone, dihydrotestosterone, androstenedione, dehydroepiandrosterone and 17-hydroxyprogesterone plasma levels, was not modified by ACTH, dexamethasone or HCG administration. Gonadotropins were subnormal and unresponsive to LRH stimulation.

Circannual variations of plasma thyrotropin in Klinefelter's syndrome.

The aim of this study was to explore the occurrence of abnormalities in the circannual thyrotropin (TSH) rhythm in Klinefelter's syndrome (KS). For 3 years, 69 healthy adult males and 73 patients with KS, usually living in Sardinia, were studied by a cross-sectional design. Plasma samples were taken between 08.

Circannual variations of plasma testosterone, luteinizing hormone, follicle-stimulating hormone and prolactin in Klinefelter's syndrome.

To clarify the influence of primary testicular failure upon circannual hormone rhythmicity we have been studying, by cross-sectional design, 93 adult patients with Klinefelter's syndrome (KS) and 64 adult healthy males to look for evidence of circannual rhythms in testosterone (T), LH, FSH and PRL plasma concentrations. Plasma samples were taken from 08.00 to 09.

Male pseudohermaphroditism due to 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency associated with atrial septal defect.

Male pseudohermaphroditism in a 6 month old boy, due to congenital 3 beta-hydroxysteroid dehydrogenase deficiency, associated with atrial septal defect, is reported. At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months.