Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.

The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.

Effect of alemtuzumab on fatigue, quality of life, and patient/caregiver-reported outcomes in relapsing-remitting multiple sclerosis-A real-world evidence study.

Background: Alemtuzumab is approved in the European Union for treating highly active relapsing-remitting multiple sclerosis (RRMS). Patient-reported outcomes measure the treatment impact on quality of life (QoL), including fatigue, a common symptom in multiple sclerosis (MS). Chronic diseases like MS also affect the patient's caregiver.

Non-exudative OCT findings in neovascular AMD.

In this narrative review we describe the main optical coherence tomography biomarkers appearing in eyes with neovascular age-related macular degeneration (AMD) that do not directly correspond to exudation. We highlight those signs that may mimic exudation and therefore do not require active treatment, such as outer retinal tubulations, pseudocysts, lipid globules, or hyporeflective wedges. Other signs may indicate impending exudation such as hyperreflective foci or shallow irregular retinal pigment epithelium elevation, and therefore should be carefully monitored.

Stroke thrombectomy in the elderly: A propensity score matched study on a nationwide real-world registry.

Introduction: Data on safety and efficacy of endovascular thrombectomy (EVT) for acute ischemic stroke in older patients are limited and controversial, and people aged 80 or older were under-represented in randomized trials. Our aim was to assess EVT effect for ischemic stroke patients aged ⩾80 at a nationwide level.

Patients And Methods: The cohort included stroke patients undergoing EVT from the Italian Registry of Endovascular Treatment in Acute Stroke (IRETAS).

Olecranon fractures: An old fixation device for a new surgical technique.

Introduction: Internal fixation in not-comminuted oblique and transverse olecranon fractures is commonly performed with tension band wiring. However, despite its high healing rate, this technique is associated with a high rate of complications, often requiring the removal of fixation devices in up to 80 % of cases. The aim of our study was to describe a surgical technique using eyelet pins that maintains the effectiveness of the classic tension band wiring while reducing intolerance or displacement of the fixation devices.

Iron deficiency anemia in pregnancy and the postpartum: a practical approach by the Italian GOAL Working Group.

Background: Iron deficiency and iron deficiency anemia represent global health issues, particularly during pregnancy and the postpartum. The present paper aims to summarize the appropriate management of these conditions in order to try to improve how clinicians perceive, diagnose and treat iron deficiency and iron deficiency anemia.

Methods: An expert panel of Italian obstetricians of Lazio region was convened to evaluate the available literature on iron deficiency and iron deficiency anemia during pregnancy and the post-partum in order to try to define a flow chart on the appropriate management of such conditions; aspects related to the patient blood management have also been investigated.

Pediatric wrist fractures: variations in management across countries. An evidence-based summary of evidence.

Introduction: Fractures of the distal radius are common in pediatric population, with considerable variation in the management of pediatric wrist fractures across different countries. It is crucial to consider the different approaches to conservative management and surgical intervention. The decision on the appropriate treatment method often depends on the type and severity of the fracture, as well as the available healthcare resources and expertise in each country.

Increased nocturnal urinary cortisol levels in the elderly patients with depression, coexisting major geriatric syndromes and combined pathogenetic mechanisms.

Background: The mechanisms at the basis of depression are still matter of debate, but several studies in the literature suggest common pathways with dementia (genetic predispositions, metabolic and inflammatory mechanisms, neuropathological changes) and other geriatric syndromes.

Aims: To evaluate the role of cortisol (as marker of the HPA, hypothalamus-pituitary-adrenal axis hyperactivity) in elderly subjects with depressive symptoms (by the means of the AGICO, AGIng and COrtisol, study), in relationship to the presence of the major geriatric syndromes.

Methods: The AGICO study enrolled patients from ten Geriatric Units in Italy.

Polymorphisms within autophagy-related genes as susceptibility biomarkers for pancreatic cancer: A meta-analysis of three large European cohorts and functional characterization.

Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with patients having unresectable or metastatic disease at diagnosis, with poor prognosis and very short survival. Given that genetic variation within autophagy-related genes influences autophagic flux and susceptibility to solid cancers, we decided to investigate whether 55,583 single nucleotide polymorphisms (SNPs) within 234 autophagy-related genes could influence the risk of developing PDAC in three large independent cohorts of European ancestry including 12,754 PDAC cases and 324,926 controls. The meta-analysis of these populations identified, for the first time, the association of the BID variant with an increased risk of developing the disease (OR = 1.

"Heterotopic ossification after total hip arthroplasty through direct anterior approach without a dedicated orthopaedic table or direct lateral approach: a quasi-randomized single-center study".

Introduction: Heterotopic ossifications (HO) are common after total hip arthroplasty (THA). The invasiveness of surgical approaches plays a relevant role in HO development. The aims of this study were to assess the development of HO 6 months after THA through direct lateral approach (DLA) or direct anterior approach (DAA) without a dedicated orthopaedic table and to assess the clinical impact of HO.

MRI scan with the "feed and wrap" technique and with an optimized anesthesia protocol: a retrospective analysis of a single-center experience.

Introduction: MRI examinations in the pediatric population require acquiring motionless images in the safest possible manner. At our institute, we have developed a protocol called "Good Practice" aimed at avoiding anesthesia in newborns and infants through the use of the "feed and wrap" technique, as well as preventing hospitalization for older children requiring anesthesia with an optimized sedation protocol. We evaluated this protocol in terms of patient safety, imaging quality, and parental satisfaction.

Native hip geometry restoration in total hip arthroplasty: a retrospective analysis of eight different short stems.

Purpose: To compare different types of short stems (SS) in terms of native hip geometry reproducibility, analyzing centrum-collum-diaphyseal angle (CCD) and femoral offset (FO). These parameters allow the SS to be adapted to patient's anatomy in order to ensure better functional outcomes in total hip arthroplasty (THA).

Methods: A total of 387 cases of SS met the inclusion criteria.

Testing of the Czech questionnaire for identifying children at risk of obstructive sleep apnea.

This study aimed to create a Czech questionnaire for pediatric obstructive sleep apnea (POSA) risk screening, a first of its kind in the Czech Republic, where options for child polysomnography are limited. Compiling items from established English questionnaires and supplementing them with additional items, we designed the first version of the Czech questionnaire and tested it in a pilot study with parents of 30 children. After pilot feedback, a revised version with dichotomous and 5-item Likert scale questions was tested on 71 children's parents.

ASL, DSC, DCE perfusion MRI and 18F-DOPA PET/CT in differentiating glioma recurrence from post-treatment changes.

Objectives: To discriminate between post-treatment changes and tumor recurrence in patients affected by glioma undergoing surgery and chemoradiation with a new enhancing lesion is challenging. We aimed to evaluate the role of ASL, DSC, DCE perfusion MRI, and 18F-DOPA PET/CT in distinguishing tumor recurrence from post-treatment changes in patients with glioma.

Materials And Methods: We prospectively enrolled patients with treated glioma (surgery plus chemoradiation) and a new enhancing lesion doubtful for recurrence or post-treatment changes.

Right ventricular phenotyping in incident patients with idiopathic pulmonary arterial hypertension.

Background: Right ventricular (RV) imaging has not a definite role in risk stratification of pulmonary arterial hypertension (PAH) patients. We tested the hypothesis that echocardiography-derived phenotypes, depicting different degrees of RV remodeling and dysfunction, may provide additional prognostic information to current risk stratification tools.

Methods: Consecutive incident PAH patients aged ≥18 years, diagnosed between January 2005 and December 2021, underwent clinical assessment, right heart catheterization, standard echocardiography.

The Use of Mirror Therapy in Peripheral Seventh Nerve Palsy: A Systematic Review.

Background: Conservative therapy is currently the elective treatment for peripheric facial palsy according to scientific literature. The success of conservative therapy is due to physiotherapy and the application of its methods. The aim of this systematic review was to assess mirror therapy, a physiotherapeutic method.