Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.

Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM # 613091) represents a clinical spectrum encompassing a heterogeneous group of skeletal dysplasias associated with homozygous or compound heterozygous mutations of DYNC2H1. We describe the case of a couple with two consecutive therapeutic abortions due to a diagnosis of short-rib thoracic dysplasia mutations. In the first pregnancy, the diagnosis has been made at 21 weeks.

Drilling for 'New Oil' in Care Integration - Co-Production of the Concept and Specification of an Integrated Data Centre for Policy Decision Making, Care Planning, and Research in Estonia.

Introduction: Care integration needs to take place on different levels, including that of infrastructure and especially data infrastructure. Only integrated data allow for policy making, care planning, research, and evaluation that spans across different sectors of care and support.

Methods: In the course of an EU-funded reform initiative on integrated care, the Estonian government and various agencies have developed a concept for an integrated data centre, bringing together information from social, medical, and vocational support services.

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

Background: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants.

Aim: We performed the first comprehensive analysis of diagnostic, clinical, genetic, and epidemiological aspects of HK deficiency.

Methods: We collected clinical information and blood samples from a newly detected HK-deficient individual and from published cases identified by a systematic literature review.

One-Day versus Three-Day Low-Residue Diet and Bowel Preparation Quality before Colonoscopy: A Multicenter, Randomized, Controlled Trial.

Background: One-day low-residue diet (LRD) is recommended before colonoscopy, but only three single-center trials compared the 1-day versus 3-day LRD. The aim of this multicenter study was to compare the impact of a 3-day versus 1-day LRD on its ability to adequately and successfully prepare the bowel of outpatients that require a colonoscopy. The outpatients' tolerance and adherence to the LRD were also considered.

Efficacy of Secukinumab in Psoriasis: Post Hoc Gender-Wise Analysis of the SUPREME Study.

Purpose: Psoriasis, a common systemic inflammatory disorder, presents with gender-related differences in the quality of life (QoL) and treatment outcomes. This post hoc analysis from the Phase 3b SUPREME study explored gender-related differences in patient characteristics and efficacy of secukinumab 300 mg on Psoriasis Area and Severity Index (PASI) 75/90/100 and impact on QoL using the Dermatology Life Quality Index (DLQI) in patients with moderate to severe psoriasis through week 24.

Patients And Methods: The proportion of patients achieving PASI 75/90/100 was computed using a nonresponder imputation approach.

A Simple Non-Invasive Score Based on Baseline Parameters Can Predict Outcome in Patients with COVID-19.

We evaluated the role of CRP and other laboratory parameters in predicting the worsening of clinical conditions during hospitalization, ICU admission, and fatal outcome among patients with COVID-19. Consecutive adult inpatients with SARS-CoV-2 infection and respiratory symptoms treated in three different COVID centres were enrolled, and they were tested for laboratory parameters within 48 h from admission. Three-hundred ninety patients were enrolled.

Functional and clinical outcomes after superior eyelid transorbital endoscopic approach for spheno-orbital meningiomas: illustrative case and literature review.

The pattern of growth of spheno-orbital meningiomas accounts for the main presenting symptoms, such as proptosis, eye motility deficit, visual impairment, diplopia. As these are benign tumors, the postoperative patient's quality of life is an important factor to consider during the preoperative planning. A detailed literature review of superior eyelid transorbital endoscopic approach for spheno-orbital meningiomas, including our own case, was made.

Overall survival and objective response in advanced unresectable hepatocellular carcinoma: A subanalysis of the REFLECT study.

Background & Aims: Validated surrogate endpoints for overall survival (OS) are important for expediting the clinical study and drug-development processes. Herein, we aimed to validate objective response as an independent predictor of OS in individuals with unresectable hepatocellular carcinoma (HCC) receiving systemic anti-angiogenic therapy.

Methods: We investigated the association between objective response (investigator-assessed mRECIST, independent radiologic review [IRR] mRECIST and RECIST v1.

Voices from the past: The pioneering use of the phonograph in neurology.

Since its discovery by the American inventor and industrialist Thomas Alva Edison (1847-1931) in 1877, the phonograph attracted much interest in the field of medicine. This article describes the earliest pioneering examples of the use of the phonograph in neurology. In France, the use of the phonograph for obtaining audio recordings of delusions and speech or language disturbances was first proposed by Victor Maurice Dupont (1857-1910) in 1889 and in Italy by the physician Gaetano Rummo (1853-1917), who had studied at La Salpêtrière under Jean-Martin Charcot (1825-1893).

Recurrent Glioblastoma Treatment: State of the Art and Future Perspectives in the Precision Medicine Era.

Current treatment guidelines for the management of recurrent glioblastoma (rGBM) are far from definitive, and the prognosis remains dismal. Despite recent advancements in the pharmacological and surgical fields, numerous doubts persist concerning the optimal strategy that clinicians should adopt for patients who fail the first lines of treatment and present signs of progressive disease. With most recurrences being located within the margins of the previously resected lesion, a comprehensive molecular and genetic profiling of rGBM revealed substantial differences compared with newly diagnosed disease.

Long-term follow-up of patients with a quadripolar active fixation left ventricular lead: An Italian multicenter experience.

Introduction: Left ventricular (LV) lead optimal positioning is one of the most important determinants of cardiac resynchronization therapy (CRT) success. LV quadripolar active fixation (QAF) leads have been designed to ensure stable LV pacing in the target area and reduce the likelihood of phrenic nerve stimulation (PNS). The aim of this analysis is to compare performances, safety, and clinical outcomes of QAF with those of quadripolar passive fixation leads (QPL) and bipolar active fixation (BAF) leads in a real-world cohort of CRT patients.

Dexamethasone and Nutraceutical Therapy Can Reduce the Myalgia Due to COVID-19 - a Systemic Review of the Active Substances that Can Reduce the Expression of Interlukin-6.

Background: Myalgia reflects generalized inflammation and cytokine response and can be the onset symptom of 36% of patients with COVID-19. Interleukin-6 (IL-6) and tumor necrosis factor-α (TNF- α) levels in plasma and upper respiratory secretions directly correlate with the magnitude of viral replication, fever, and respiratory and systemic symptoms, including musculoskeletal clinical manifestations.

Objective: The aim of our work is to report literature scientific investigation clinical protocol to reduce the immunomodulation and inflammatory response nutraceutical therapy associated with dexamethasone and how can reduce the expression of Interlukina-6(IL-6) and myalgia due to COVID-19.

Intradural extramedullary cavernous hemangioma of the cervicothoracic junction: A case report and review of the literature.

Background: Intradural extramedullary cavernous hemangiomas of the spine are rare, benign lesions with only 40 published cases to date.

Case Description: The authors report a rare case of a histologically diagnosed intradural extramedullary cavernous hemangioma of the spine involving the cervicothoracic junction and causing sudden gait disturbances and urinary retention in a 24-year-old male. Gross total tumor removal allowed complete spinal decompression and sensible improvement of the clinical condition with no evidence of tumor relapse at 12-month follow-up examination.

Obesity and Bone: A Complex Relationship.

There is a large literature on the relationship between obesity and bone. What we can conclude from this review is that the increase in body weight causes an increase in BMD, both for a mechanical effect and for the greater amount of estrogens present in the adipose tissue. Nevertheless, despite an apparent strengthening of the bone witnessed by the increased BMD, the risk of fracture is higher.

Long-term management of moderate-to-severe adult atopic dermatitis: a consensus by the Italian Society of Dermatology and Venereology (SIDeMaST), the Association of Italian Territorial and Hospital Allergists and Immunologists (AAIITO), the Italian Association of Hospital Dermatologists (ADOI), the Italian Society of Allergological, Environmental and Occupational Dermatology (SIDAPA), and the Italian Society of Allergy, Asthma and Clinical Immunology (SIAAIC).

Atopic dermatitis (AD) is a common chronic-relapsing inflammatory skin disease, burdened by various comorbidities. AD most commonly occurs in children but may persist or present in adulthood becoming a lifelong condition. Therefore, AD requires an effective long-term treatment improving disease signs and symptoms but also of patients' quality of life (QoL).

Thoracic re-irradiation with 3D-conformal or more advanced techniques: A systematic review of treatment safety by the Re-irradiation Study Group of the Italian Association of Radiation and Oncology AIRO.

Re-irradiation (re-RT) is a treatment modality that has been actively investigated in recurrent lung cancer or in lung metastases appeared in previously irradiated areas. A literature search, according PRISMA recommendations and a meta-analysis technique were performed with the aims to identify possible factors related to the toxicity incidence and severity of ≥ G3 acute toxicity. 1243 patients and 36 studies, met inclusion criteria.