haploinsufficiency: case series and literature review.

Background: -related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this disorder have been described.

Methods: Our study included three children with haploinsufficiency recruited from three medical genetics centers.

Palliative short-course radiotherapy (RAPASH study) in patients with rectal cancer.

Background: Palliative radiation therapy (RT) is used to treat symptomatic rectal cancer although clinical benefits and toxicities are poorly documented. There is no consensus about the optimal RT regimen and clinical practice undergoes significant changes. Our aim was to evaluate the efficacy and toxicity of short-course (SC) RT in this setting of patients.

Effect of sacubitril/valsartan on cardiac remodeling compared with other renin-angiotensin system inhibitors: a difference-in-difference analysis of propensity-score matched samples.

Background: In patients with heart failure with reduced ejection fraction (HFrEF), treatment with sacubitril-valsartan (S/V) may reverse left ventricular remodeling (rLVR). Whether this effect is superior to that induced by other renin-angiotensin system (RAS) inhibitors is not well known.

Methods: HFrEF patients treated with S/V (n = 795) were compared, by propensity score matching, with a historical cohort of 831 HFrEF patients (non-S/V group) treated with angiotensin-converting enzyme inhibitors or angiotensin receptor blockers (RAS inhibitors).

Ultrasound evaluation of diaphragm kinetics after minimally invasive surfactant administration.

Purpose: Concerns remain on different alveolar deposition of surfactant between LISA and INSURE methods. Ultrasound evaluation of diaphragm kinetics may provide clinical evidence on this issue, as indirect representation of the respiratory system compliance.

Methods: This was a prospective-observational pilot study.

Arterial lactate as a risk factor for death in respiratory failure related to coronavirus disease 2019: an observational study.

Background: Arterial lactate is a recognized biomarker associated with death in critically ill patients. The prognostic role of arterial lactate in acute respiratory failure due to the novel coronavirus disease 2019 (COVID-19) is unclear.

Objectives: We aimed to investigate the prognostic role of arterial lactate levels at admission in patients with COVID-19-related acute respiratory failure.

Comparison of MRI vs. [F]FDG PET/CT for Treatment Response Evaluation of Primary Breast Cancer after Neoadjuvant Chemotherapy: Literature Review and Future Perspectives.

The purpose of this systematic review was to investigate the diagnostic accuracy of [F]FDG PET/CT and breast MRI for primary breast cancer (BC) response assessment after neoadjuvant chemotherapy (NAC) and to evaluate future perspectives in this setting. We performed a critical review using three bibliographic databases (i.e.

[F]-FDHT PET for the Imaging of Androgen Receptor in Prostate and Breast Cancer: A Systematic Review.

The aim of this systematic review is to provide a comprehensive overview of the role of fluoro-5α-dihydrotestosterone ([F]-FDHT) for the in vivo imaging of androgen receptors (AR) through positron emission tomography (PET) in metastatic breast (mBC) and metastatic castration-resistant prostate cancer (mCRPC). Relevant studies published from 2013 up to May 2023 were selected by searching Scopus, PubMed and Web of Science. The selected imaging studies were analyzed using a modified version of the critical Appraisal Skills Programme (CASP).

Open vs robotic gastrectomy with D2 lymphadenectomy: a propensity score-matched analysis on 1469 patients from the IMIGASTRIC prospective database.

Background: Comparative data on D2-robotic gastrectomy (RG) vs D2-open gastrectomy (OG) are lacking in the Literature. Aim of this paper is to compare RG to OG with a focus on D2-lymphadenectomy.

Study Design: Data of patients undergoing D2-OG or RG for gastric cancer were retrieved from the international IMIGASTRIC prospective database and compared.

Different right ventricular dysfunction and pulmonary coupling in acute heart failure according to the left ventricular ejection fraction.

Background: Right ventricular (RV) dysfunction and pulmonary uncoupling are two acknowledged features associated with poor outcome, however few data defined RV adaptation across the different left ventricular ejection fraction (EF) cut-off. Additionally, less data are reported in patients with acute heart failure (AHF).

Aims: The aim of present study was to analyse RV function in AHF patients presenting with either reduced or preserved EF.

New insights on circumscribed choroidal hemangioma: "bench to bedside".

Circumscribed choroidal hemangioma is a rare vascular hamartoma of the choroid, presenting as a red-orange mass at the posterior pole on fundoscopic examination. Despite its benign origin, associated complications such as subretinal fluid, serous retinal detachment, retinoschisis and neovascular glaucoma may lead to serious visual impairment in more than half patients. Because of its similarity to amelanotic choroidal melanoma and choroidal metastasis, differential diagnosis is still challenging for specialists.

The broad-spectrum activity of perampanel: state of the art and future perspective of AMPA antagonism beyond epilepsy.

Glutamate is the brain's main excitatory neurotransmitter. Glutamatergic neurons primarily compose basic neuronal networks, especially in the cortex. An imbalance of excitatory and inhibitory activities may result in epilepsy or other neurological and psychiatric conditions.

Prospective analysis of febrile neutropenia patients with bacteraemia: the results of an international ID-IRI study.

Objectives: Bacteraemia during the course of neutropenia is often fatal. We aimed to identify factors predicting mortality to have an insight into better clinical management.

Methods: The study has a prospective, observational design using pooled data from febrile neutropenia patients with bacteraemia in 41 centres in 16 countries.

Minipuberty assessment in newborns with hypoxic ischemic encephalopathy treated with therapeutic hypothermia: a single-center case-control study.

Introduction: The aim of our single-center case-control study is to evaluate whether minipuberty occurs in patients with hypoxic ischemic encephalopathy (HIE) who underwent therapeutic hypothermia (TH). We intend to conduct this evaluation by confronting the values of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) and the values of testosterone in males and estradiol in females between newborns with HIE and in subsequent TH and healthy controls.

Methods: We enrolled 40 patients (age: 56-179 days; 23 males), of whom 20 met the inclusion criteria for the case group and who underwent TH.

Training in Diagnostic Hysteroscopy: The "Arbor Vitae" Method.

: Diagnostic hysteroscopy is the gold standard in the diagnosis of intrauterine pathology and is becoming an essential tool in the daily practice of gynecology. Training programs for physicians are necessary to ensure adequate preparation and learning curve before approaching patients. The aim of this study was to describe the "Arbor Vitae" method for training in diagnostic hysteroscopy and to test its impact on the knowledge and skills of trainees using a customized questionnaire.

PET Radiomics and Response to Immunotherapy in Lung Cancer: A Systematic Review of the Literature.

Unlabelled: The aim of this review is to provide a comprehensive overview of the existing literature concerning the applications of positron emission tomography (PET) radiomics in lung cancer patient candidates or those undergoing immunotherapy.

Materials And Methods: A systematic review was conducted on databases and web sources. English-language original articles were considered.

Ocular-Surface Regeneration Therapies for Eye Disorders: The State of the Art.

The ocular surface is a complex structure that includes cornea, conjunctiva, limbus, and tear film, and is critical for maintaining visual function. When the ocular-surface integrity is altered by a disease, conventional therapies usually rely on topical drops or tissue replacement with more invasive procedures, such as corneal transplants. However, in the last years, regeneration therapies have emerged as a promising approach to repair the damaged ocular surface by stimulating cell proliferation and restoring the eye homeostasis and function.

Surgical management and side effects of parotid gland surgery for benign lesions: a retrospective analysis of our experience from 2012 to 2021.

Surgery is the treatment of choice for tumours in the parotid gland. We evaluated complications following parotid surgery. We conducted a retrospective study on 554 patients undergoing parotid surgery for benign parotid tumours from 2012 to 2021.

Total Transfemoral Branched Endovascular Thoracoabdominal Aortic Repair (TORCH2): Short-term and 1-Year Outcomes From a National Multicenter Registry.

Objective: The use of steerable sheaths to allow total transfemoral access (TFA) of branched endovascular repair (BEVAR) of thoracoabdominal aortic aneurysms has been proposed as an alternative to upper extremity access (UEA); however, multicenter results from high-volume aortic centers are lacking.

Materials And Methods: The Total Transfemoral Branched Endovascular Thoracoabdominal Aortic Repair (TORCH2) study is a physician-initiated, national, multicenter, retrospective, observational registry (Clinicaltrials.gov identifier: NCT04930172) of patients undergoing BEVAR with a TFA for the cannulation of reno-visceral target vessels (TV).

Hepato-Biliary Imaging in an Acute Setting: Is There a Role for Nuclear Medicine?

Nuclear medicine (NM) is not commonly considered as a first-line imaging modality in hepato-biliary (HB) emergencies. The aim of this review is to provide an update on the potential of NM for the imaging of HB emergencies. Tc-HIDA scintigraphy showed high diagnostic accuracy for acute cholecystitis, thus being particularly useful in patients at high-risk for surgery due to comorbidities and with no clear findings at US or CT.

The Day-To-Day Practice of MMR and MSI Assessment in Colorectal Adenocarcinoma: What We Know and What We Still Need to Explore.

Background: The DNA mismatch repair (MMR) system is a highly preserved protein complex recognizing short insertions, short deletions, and single base mismatches during DNA replication and recombination. MMR protein status is identified using immunohistochemistry. Deficit in one or more MMR proteins, configuring deficient MMR status (dMMR), leads to frameshift mutations particularly clustered in microsatellite repeats.

The "banana splitting DREZotomy": an atraumatic method to improve pain relief after dorsal root entry zone lesioning in brachial plexus injuries. Case series and tenets for the treatment.

Background: The treatment of neuropathic deafferentation pain due to avulsion injuries of the brachial plexus is a major problem, albeit rare, in the neurosurgical practice. The aim of the paper is to present step-by-step the main principles of a surgical upgrade of the well-known Dorsal Root Entry Zone lesioning, that we named banana splitting DREZotomy.

Methods: A comparison is made among three groups of patients, two of which were treated following the classic techniques, while in the third no physical agent is applied to the spinal cord during surgery.

A strange case of Transthyretin Cardiac Amyloidosis in the Elderly: a diagnostic challenge.

Transthyretin (TTR)-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive, hypertrophic heart disease and may go undiagnosed. We here report the case of a 83-year-old woman, which has rapresented an unique case of transthyretin-related cardiac amyloidosis, as a patient with an initial diagnosis of hypertensive heart disease later develops an infiltrative cardiomyopathy due to amyloid deposits.

Artificial intelligence in diabetic retinopathy screening: clinical assessment using handheld fundus camera in a real-life setting.

Aim: Diabetic retinopathy (DR) represents the main cause of vision loss among working age people. A prompt screening of this condition may prevent its worst complications. This study aims to validate the in-built artificial intelligence (AI) algorithm Selena+ of a handheld fundus camera (Optomed Aurora, Optomed, Oulu, Finland) in a first line screening of a real-world clinical setting.