Publications by authors named "POZZI L"

Ecological variation and anthropogenic landscape modification have had key roles in the diversification and extinction of mammals in Madagascar. Lemurs represent a radiation with more than 100 species, constituting roughly one-fifth of the primate order. Almost all species of lemurs are threatened with extinction, but little is known about their genetic diversity and demographic history.

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Endoscopic ultrasound-guided biliary drainage (EUS-BD) has dramatically spread and improved in the last two decades and is changing the paradigm of drainage in case of malignant biliary obstruction (MBO). EUS-BD can be achieved from different routes, including the common bile duct (choledochoduodenostomy), intrahepatic bile ducts (hepaticogastrostomy), and gallbladder as a rescue (cholecystogastrostomy/cholecystoduodenostomy). EUS-guided hepaticogastrostomy (EUS-HGS) is a valuable option for biliary drainage in MBO when ERCP fails or is not feasible.

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Choledochal cysts (CCs) are cystic dilations of intrahepatic and/or extrahepatic bile ducts. Around 80% of CCs are diagnosed within the first decade of life. These complex clinical entities are extremely rare, especially in the Western population.

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In the last few years, our understanding of disease molecular mechanisms underpinning ALS has advanced greatly, allowing the first steps in translating into clinical practice novel research findings, including gene therapy approaches. Similarly, the recent advent of assistive technologies has greatly improved the possibility of a more personalized approach to supportive and symptomatic care, in the context of an increasingly complex multidisciplinary line of actions, which remains the cornerstone of ALS management. Against this rapidly growing background, here we provide an comprehensive update on the most recent studies that have contributed towards our understanding of ALS pathogenesis, the latest results from clinical trials as well as the future directions for improving the clinical management of ALS patients.

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: Serum alpha-fetoprotein (AFP) is a recognized affordable oncological marker in patients with hepatocellular carcinoma (HCC). However, AFP's prognostic role has been assessed mainly after specific treatments, and no unanimously recognized cut-offs have been identified. The aim of this study is to investigate the prognostic role of different basal AFP cut-offs on survival and HCC course.

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  • Several clinical trials have shown that different bowel preparations (BPs) work similarly, but there's a lack of real-world studies comparing them.
  • This study, conducted over 14 months with 1,779 patients at an academic hospital, focused on the effectiveness of 1L-PEG compared to 2L-PEG and picosulphate mixtures in achieving proper bowel preparation before colonoscopy.
  • The findings reveal that 1L-PEG significantly improves bowel preparation adequacy and identifies specific risk factors, like male sex and smoking, that lead to inadequate preparation, suggesting it enhances clinical practice and saves healthcare resources.
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Background: Various reduction techniques exist to treat traumatic shoulder dislocation, but best management remains unclear.

Aims: To investigate the reduction rate of traumatic anteroinferior shoulder dislocations using two sedation-free techniques and success rates of subgroups.

Methods: A single-center study was performed analysing shoulder dislocations in a two-year period.

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As research in automatically detecting bugs grows and produces new techniques, having suitable collections of programs with known bugs becomes crucial to reliably and meaningfully compare the effectiveness of these techniques. Most of the existing approaches rely on collecting manually curated real-world bugs, or synthetic bugs seeded into real-world programs. Using real-world programs entails that extending the existing benchmarks or creating new ones remains a complex time-consuming task.

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  • SOD1-ALS is a specific type of amyotrophic lateral sclerosis that may benefit from targeted treatments, and the study aims to compare its clinical features with other ALS types to define its unique phenotype.
  • The researchers conducted a meta-analysis of existing studies to gather clinical data on SOD1-ALS and several other major ALS gene variants, using parameters like patient survival and onset age.
  • Results revealed that SOD1-ALS has a higher rate of spinal onset and earlier onset age compared to some groups, while its survival rates are longer than those of C9-ALS and FUS-ALS but shorter than TARDBP-ALS, underscoring the need for proper genetic testing and counseling for affected patients.
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Human-robot interaction is a rapidly developing field and robots have been taking more active roles in our daily lives. Patient care is one of the fields in which robots are becoming more present, especially for people with disabilities. People with neurodegenerative disorders might not consciously or voluntarily produce movements other than those involving the eyes or eyelids.

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Objectives: We report the clinical presentation and evolution of a case with a novel Progranulin gene () mutation and non-fluent language disturbances at onset.

Materials And Methods: A 60 year-old, white patient was followed due to a history of language disturbances. Eighteen months after onset, the patient underwent FDG positron emission tomography (PET), and at month 24 was hospitalized to perform neuropsychological evaluation, brain 3 T MRI, lumbar puncture for cerebrospinal fluid (CSF) analysis, and genotyping.

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Obesity is a chronic disease that impairs quality of life and leads to several comorbidities. When conservative therapies fail, bariatric surgical options such as Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) are the most effective therapies to induce persistent weight loss. Over the last two decades, bariatric endoscopy has become a valid alternative to surgery in specific settings.

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  • The study aims to identify distinguishing features between primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS), focusing on early symptoms, serum biomarkers, and prognostic indicators in patients with upper motor neuron syndrome.
  • It analyzed clinical data from 105 patients (55 with PLS and 50 with ALS) and found that PLS patients had a longer time to first neurological evaluation and lower neurofilament light chain (NfL) levels compared to ALS patients.
  • The study concludes that NfL could serve as both a diagnostic tool to differentiate between PLS and ALS and a prognostic factor for patients with upper motor neuron syndrome.
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Fungal periprosthetic joint infections (PJI) are difficult to treat, due to important biofilm formation and limited local penetration of systemically administered antifungals. Calcium sulphate (CaSO ) might be a promising carrier to increase local concentration of antifungals. We hypothesized that local amphotericin B release from CaSO is high enough to significantly contribute to treatment of fungal PJI.

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  • - This study investigates the molecular pathways involved in neurolymphomatosis (NL), a condition affecting the peripheral nervous system, focusing on clinical observations and gene expression analysis in nerve biopsies from NL patients and those with inflammatory neuropathies as controls.
  • - Researchers categorized NL patients into three neuropathy types based on symptoms and found notable differences in cellular infiltration patterns in nerve tissues between these forms.
  • - The study identified significant changes in gene expression, with 115 up-regulated and 1151 down-regulated genes, highlighting potential biomarkers like ACTA1 and DES, which may indicate a shift to a more aggressive phenotype in NL, possibly contributing to a worse prognosis.
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In the last decades, the continuous increase in the number of the vast cohort of chronic patients that constantly need medical assistance and supervision, and the widespread lack of therapist has brought to an increased interest in the role of medical technologies in rehabilitative programs and assistive scenarios. Current clinical evidence in rehabilitation demonstrates that there is an important and increasing demand for innovative therapeutic solutions to recover the hand functions to prevent patients to need assistance in performing daily life activities. This works describes the pathway from patent to TRL5 of a device to support hand grip actions and interaction with daily life objects.

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  • The study investigates the MRI features and clinical characteristics of motor neuron disease (MND) in patients with specific genetic mutations compared to those with sporadic MND and healthy individuals.
  • Patients with the mutation displayed a variety of clinical symptoms, significant cognitive impairment, and distinctive brain atrophy, particularly in the right lateral parietal cortex.
  • Additionally, unique white matter changes were observed in the corticospinal tract and inferior longitudinal fasciculi of mutation carriers, differentiating them from other MND cases.
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Introduction: In the last few years, different studies highlighted a significant enrichment of loss of function (LoF) variants in amyotrophic lateral sclerosis (ALS), and an additional role for the p.Arg261His missense variant in the disease susceptibility. Several other missense variants have been described so far, whose pathogenic relevance remains however unclear since many of them have been reported in both patients and controls.

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Service robotics is a fast-developing sector, requiring embedded intelligence into robotic platforms to interact with the humans and the surrounding environment. One of the main challenges in the field is robust and versatile manipulation in everyday life activities. An appealing opportunity is to exploit compliant end-effectors to address the manipulation of deformable objects.

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Background And Purpose: This study was undertaken to determine the diagnostic and prognostic value of a panel of serum biomarkers and to correlate their concentrations with several clinical parameters in a large cohort of patients with amyotrophic lateral sclerosis (ALS).

Methods: One hundred forty-three consecutive patients with ALS and a control cohort consisting of 70 patients with other neurodegenerative disorders (DEG), 70 patients with ALS mimic disorders (ALSmd), and 45 healthy controls (HC) were included. Serum neurofilament light chain (NfL), ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1), glial fibrillary acidic protein (GFAP), and total tau protein levels were measured using ultrasensitive single molecule array.

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In recent years, multiple technological and methodological advances have increased our ability to estimate phylogenies, leading to more accurate dating of the primate tree of life. Here we provide an overview of the limitations and potentials of some of these advancements and discuss how dated phylogenies provide the crucial temporal scale required to understand primate evolution. First, we review new methods, such as the total-evidence dating approach, that promise a better integration between the fossil record and molecular data.

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Iliopsoas impingement (IPI) causes persistent groin pain and functional impairment after total hip arthroplasty (THA). It is caused most often by an overhang of the cup. Psoas tenotomy may successfully treat IPI in overhangs <8 mm.

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Human Cytomegalovirus (HCMV) and Epstein-Barr virus (EBV) are endowed with the ability of establishing lifelong latency in human hosts and reactivating in immunocompromised subjects, including patients suffering from ulcerative colitis (UC). We, therefore, aimed to investigate virus-specific immunity in UC patients. A cohort of 24 UC patients (14 responders and 10 refractory to therapy) and 26 control subjects was prospectively enrolled to undergo virus-specific serology (by ELISA assay) and assessment of both CD4 and CD8 virus-specific T-cell response (by interferon-γ enzyme-linked immunospotanalysis).

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Article Synopsis
  • * There are currently no effective treatments for ALS, and a lack of diagnostic and prognostic biomarkers complicates clinical practice.
  • * Neurofilament proteins, particularly neurofilament light chain and phosphorylated neurofilament heavy chain, are emerging as promising biomarkers for ALS, aiding in diagnosis, prognosis, and treatment evaluation, though guidelines for their clinical use are still needed.
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