Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Background: Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC-MS/MS) analysis are viewed worldwide as the gold standard procedure for the expanded NBS programs for these disorders. Advanced molecular technologies point to genomic sequencing as an alternative and feasible strategy for the screening of genetic diseases, including IMDs.

The Role of GFAP in Post-Mortem Analysis of Traumatic Brain Injury: A Systematic Review.

Traumatic brain injuries (TBIs) are a leading cause of mortality and morbidity, particularly in forensic settings where determining the cause of death and timing of injury is critical. Glial fibrillary acidic protein (GFAP), a biomarker specific to astrocytes, has emerged as a valuable tool in post-mortem analyses of TBI. A PRISMA-based literature search included studies examining GFAP in human post-mortem samples such as brain tissue, cerebrospinal fluid (CSF), serum, and urine.

The Role of Cardiac Troponins in Postmortem Diagnosis of Myocardial Ischemia: A Systematic Review.

Postmortem diagnosis of myocardial ischemia remains a challenge in forensic pathology, as traditional methods like autopsy and histology may not always provide conclusive results. Cardiac troponins, specifically cTnI and cTnT, are well-established biomarkers for myocardial injury in living patients, but their role in postmortem ischemia diagnosis is still under investigation. This systematic review aims to evaluate the role of troponins in diagnosing myocardial ischemia in postmortem cases, focusing on the diagnostic accuracy, sample types, and the influence of the postmortem interval (PMI).

Different patterns of neurogenic quadrilateral space syndrome: a case series of undefined posterior shoulder pain.

Background: Quadrilateral space syndrome is a painful disorder of the shoulder caused by static or dynamic entrapment of the axillary nerve and the posterior humeral circumflex artery. It was first described in 1983; however, it is an uncommon syndrome that initially presents with nonspecific shoulder pain or selective deltoid atrophy, and diagnosis is often delayed owing to its rarity. Young athletes of overhead sports are more commonly affected by this syndrome.

Heterologous Expression of Secreted Proteins from Phytophthora in Pichia pastoris Followed by Protein Purification by Immobilized Metal Ion Affinity (IMAC).

This chapter describes the protocol for heterologous expression of Phytophthora proteins in the yeast Pichia pastoris. Two methods to prepare the constructs for expression are described, using two different strains of P. pastoris, as well as methods for protein expression and purification by immobilized metal ion affinity (IMAC).

Analysis of shoulder motion with inertial sensors in Poland syndrome patients.

Purpose: Poland syndrome is a congenital malformation characterized by agenesis or hypoplasia of pectoralis muscles. There is a limited literature on how the anatomic anomalies of PS may impact the movement of the shoulder. This study analyzes the effects of absence of the pectoralis muscles on the shoulder kinematic.

The Role of AFB1, OTA, TCNs, and Patulin in Forensic Sciences: Applications in Autopsy, Criminal Investigations, and Public Health Prevention.

Mycotoxins, specifically aflatoxin B1 (AFB1), ochratoxin A (OTA), trichothecenes (TCNs), and patulin, are a group of secondary metabolites that can contaminate food, leading to severe health implications for humans. Their detection and analysis within forensic toxicology are crucial, particularly as they can be implicated in cases of poisoning, foodborne illnesses, or lethal chronic exposure. However, little is known about the application that mycotoxins could have in forensic investigations and especially about the possibility of extracting and quantifying these molecules on tissues or post-mortem fluids collected at autopsy.

From diagnosis to rehabilitation of trigger finger: a narrative review.

Trigger finger (TF), also known as stenosing flexor tenosynovitis, is a common pathology of the fingers causing functional deficit of the hand. In recent years, new therapeutic approaches such as extracorporeal shock wave therapy (ESWT) and ultrasound-guided (USG) procedures have joined the most traditional conservative treatments as the adaptation of daily activities involving the affected hand and the orthosis. Likewise, the ultrasound (US) examination of the affected finger using modern high-frequency probes has progressively become part of the comprehensive assessment of patients with TF coupled with the medical history, the physical examination, and the functional scales.

Rapunzel Syndrome: Clinical, Diagnostic and Forensic Aspects in Related Deaths-A Review of the Literature.

Rapunzel syndrome is a rare and severe form of trichobezoar, characterized by the presence of hair masses in the stomach that often extend into the bowel, resembling the legendary "Rapunzel's" long hair. : This review examines the clinical, diagnostic, forensic, and post-mortem aspects associated with Rapunzel syndrome, with a focus on cases resulting in mortality or those at high risk of death due to complications. In particular, the review systematically analyzes the existing literature on fatal cases of Rapunzel syndrome, emphasizing insights into risk factors, clinical manifestations, diagnostic methods, autopsy findings, and preventive measures to provide a focused understanding of these critical aspects.

Hydrocolloid-based bioplastics: Degradation in characterized soils.

Three different type of bioplastics were studied. They were made of amylose only, argan proteins only, while the third type contained both polymers at a 1:1 ratio. Their degradation was studied in three different type of soils fully characterized regarding their composition.

Maximizing Knee OA Treatment: A Comparative Look at Physiotherapy and Injections.

Background: Knee osteoarthritis (OA) is a prevalent and disabling condition often managed with physiotherapy or intra-articular injections. However, the comparative effectiveness of these treatments remains unclear. This systematic review aimed to evaluate and compare the efficacy of physiotherapy and intra-articular injections in managing knee OA.

AO/OTA B and C articular fractures of the distal humerus: What are the boundaries between Total Elbow Arthroplasty and ORIF?

Background: Nowadays, an increasing number of Total Elbow Arthroplasty (TEA) surgeries have been selected as the primary intervention for distal humerus joint fractures. TEA has demonstrated favorable outcomes in elderly osteoporotic patients and has been associated with fewer complications and reduced stiffness when compared to Open Reduction Internal Fixation (ORIF) surgeries. This retrospective cohort study aimed to analyze differences in terms of functional outcomes, complications, and reoperation rates of distal fractures of the humerus treated with ORIF and TEA.

Multidisciplinary high resolution Geophysical Imaging of Pantano Ripa Rossa Segment of the Irpinia Fault (Southern Italy).

The Irpinia Fault, also known as the Monte Marzano Fault System, located in the Southern Apennines (Italy), is one of the most seismically active structures in the Mediterranean. It is the source of the 1980, Ms 6.9, multi-segment rupture earthquake that caused significant damage and nearly 3,000 casualties.

Rebuilding Stability: Exploring the Best Rehabilitation Methods for Chronic Ankle Instability.

Chronic Ankle Instability (CAI) is a common condition characterized by repeated episodes of ankle "giving way" and impaired balance, leading to functional limitations. Various rehabilitation techniques, including balance training, proprioceptive exercises, whole-body vibration (WBV), and novel approaches like stroboscopic vision, are used to address these deficits. This review evaluates the effectiveness of different rehabilitation interventions for CAI management.

Assessing semantic interoperability in environmental sciences: variety of approaches and semantic artefacts.

The integration and reuse of digital research products can be only ensured through the adoption of machine-actionable (meta)data standards enriched with semantic artefacts. This study compiles 540 semantic artefacts in environmental sciences to: i. examine their coverage in scientific domains and topics; ii.

MicroRNA dysregulation in ataxia telangiectasia.

Introduction: Ataxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the underlying mechanisms of complex rare human diseases, as miRNAs play a role in various biological functions including proliferation, differentiation, and DNA repair. In this study, we investigate the differential expression of miRNAs in samples from AT patients to identify miRNA patterns and analyze how these patterns are related to the disease.

The Role of Adrenomedullin as a Predictive Marker of the Risk of Death and Adverse Clinical Events: A Review of the Literature.

Adrenomedullin (ADM) is a vasodilatory peptide that plays a crucial role in maintaining cardiovascular health through its various biological functions. ADM was discovered in the acidic extract of human pheochromocytoma tissue and has been recognized for its significant effects on the vascular system. The main functions of ADM include vasodilation, controlling blood pressure and maintaining vascular integrity, although its role on cardiovascular health is broader.

A Review of the Literature on Episodes of Acute Fentanyl Intoxication in Pediatric Age and Toxicological Applications.

Fentanyl is an opioid with powerful analgesic effects and a high speed of action. Due to its pharmacological properties, this molecule has therapeutic application as an anesthetic in surgery or as palliative therapy for cancer patients. Unfortunately, in recent years, the easy availability of this substance, the low cost and the illegal online market have favored the large-scale diffusion of fentanyl.

Long-term outcomes and trends in elbow arthroplasty with Coonrad-Morrey prosthesis: a retrospective study in large group of patients.

Purpose: Total Elbow Arthroplasty (TEA) was first developed to treat severe rheumatoid arthritis, but its uses have grown to encompass end-stage osteoarthritis, post-traumatic arthritis, and distal humeral fractures. This study analyzes indications changes, long-term survival, complications, and post-operative functional results of the Coonrad-Morrey prostheses, enhancing the existing literature on this technique and substantial case history.

Methods: We included 122 arthroplasties in 117 patients, 28 males and 89 females (mean age of 67 years) treated in our hospital between 2002 and 2016.

Essential gene screening identifies the bromodomain-containing protein BRPF1 as a new actionable target for endocrine therapy-resistant breast cancers.

Identifying master epigenetic factors controlling proliferation and survival of cancer cells allows to discover new molecular targets exploitable to overcome resistance to current pharmacological regimens. In breast cancer (BC), resistance to endocrine therapy (ET) arises from aberrant Estrogen Receptor alpha (ERα) signaling caused by genetic and epigenetic events still mainly unknown. Targeting key upstream components of the ERα pathway provides a way to interfere with estrogen signaling in cancer cells independently from any other downstream event.

The experimental reconstruction of a complicated case of work accident due to a scraper.

Background: Workplace safety is a global public health issue. Re-constructing an accident can prove extremely complicated, especially when the event occurs without direct witnesses or when the scene is altered. In these cases, it is essential to adopt proper investigation pro-tocols in order to ensure the correct reconstruction of the dynamics.