Calculated Maximal Volume Ventilation (cMVV) as a Marker of Early Respiratory Failure in Amyotrophic Lateral Sclerosis (ALS).

Respiratory failure assessment is among the most debatable research topics in amyotrophic lateral sclerosis (ALS) clinical research due to the wide heterogeneity of its presentation. Among the different pulmonary function tests (PFTs), maximal voluntary ventilation (MVV) has shown potential utility as a diagnostic and monitoring marker, able to capture early respiratory modification in neuromuscular disorders. In the present study, we explored calculated MVV (cMVV) as a prognostic biomarker in a center-based, retrospective ALS population belonging to the Piemonte and Valle d'Aosta registry for ALS (PARALS).

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.

Background And Purpose: Advances in multidisciplinary care are extending overall survival in Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort and identify novel challenges associated with the disease.

Methods: Nineteen individuals aged 25-48 years (median 34 years) with a confirmed diagnosis of out-of-frame DMD gene mutation were selected.

Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset.

Aim: We reviewed the clinical features of a sample of pediatric acquired demyelinating syndromes with the purpose of determining the appropriate protocol for follow-up after the first episode.

Methods: A multicenter retrospective observational study was conducted on a cohort of 40 children diagnosed with a first episode of acquired demyelinating syndrome over the period 2012-2021. Patients were evaluated with clinical and neuroradiologic assessment after 3, 6, and 12 months, with a median follow-up of 4.

Acute coronary syndrome in very elderly patients-a real-world experience.

Very elderly population constitutes an increasingly larger proportion of patients admitted for acute coronary syndromes (ACS). Notably, age represents both a proxy of frailty and an exclusion criterion in clinical randomized trials, which probably contributes to lack of data and undertreatment of real-world elderly patients. The aim of the study is to describe patterns of treatment and outcome of very elderly patients with ACS.

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Objective: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype-genotype relationship and functional consequences of SCN1A variants in a cohort of patients.

Methods: Sixteen probands carrying SCN1A pathogenic variants were ascertained via a national collaborative network. We also performed a literature review including individuals with SCN1A variants causing non-DS and non-GEFS+ phenotypes and compared the features of the two cohorts.

Perinatal asphyxia partly affects presepsin urine levels in non-infected term infants.

Objectives: Standard of care sepsis biomarkers such as C-reactive protein (CRP) and procalcitonin (PCT) can be affected by several perinatal factors, among which perinatal asphyxia (PA) has a significant role. In this light, new early sepsis biomarkers such as presepsin (P-SEP) are needed to enact therapeutic strategies at a stage when clinical and laboratory patterns are still silent or unavailable. We aimed at investigating the potential effects of PA on longitudinal P-SEP urine levels.

Stone free rate and clinical complications in patients submitted to retrograde intrarenal surgery (RIRS): Our experience in 571 consecutive cases.

Introduction: The purpose of this study is to report the stone free rate (SFR) and clinical complications in patients submitted to retrograde intrarenal surgery (RIRS).

Materials And Methods: A total of 571 procedures of upper urinary stones treated using flexible ureteroscopy and holmium laser lithotripsy from January 2014 to February 2020 have been analyzed. Overall SFR was evaluated after 3 months following the procedure by means of a non-contrast computed tomography.

Post-pregnancy recurrent biliary colic with intraoperative diagnosis of limy bile syndrome.

Introduction: Limy bile syndrome (LBS) is an unusual condition in which gallbladder and/or bile ducts are filled with paste-like radiopaque material with a high calcium carbonate content. It can be rarely associated with PTH disorder and hypercalcemia.

Presentation Of Case: A 35-year-old woman presented with epigastric and right hypochondrium pain since a few hours.

Functional hypothalamic and drug-induced amenorrhea: an overview.

Background: Functional hypothalamic amenorrhea (FHA) is a form of chronic anovulation not due to identifiable organic causes and with adverse health consequences. The identification of women with this disorder or the precocious identification of women at risk is based on the knowledge of lifestyle risk factors or behaviors such as stress, weight loss, and excessive physical exercise that are known to negatively impact gonadal axis activity.

Methods: In this overview, we described the most common forms of FHA, in particular stress-induced amenorrhea and overtraining-induced amenorrhea.

Light sedation with dexmedetomidine: a practical approach for the intensivist in different ICU patients.

Light sedation, corresponding to a Richmond Agitation-Sedation Scale between 0 and -1 is a priority of modern critical care practice. Dexmedetomidine, a highly selective, central, α2-adrenoceptor agonist, is increasingly administered in the intensive care units (ICUs) as an effective drug to induce light sedation, analgesia and a quasi-physiological sleep in critically ill patients. Although in general dexmedetomidine is well tolerated, side effects as bradycardia, hypertension, and hypotension may occur.

Meteorological factors, air pollutants, and emergency department visits for otitis media: a time series study.

AbstractOtitis media (OM) is a very common disease in children, which results in a significant economic burden to the healthcare system for hospital-based outpatient departments, emergency departments (EDs), unscheduled medical examinations, and antibiotic prescriptions. The aim of this retrospective observational study is to investigate the association between climate variables, air pollutants, and OM visits observed in the 2007-2010 period at the ED of Cuneo, Italy. Measures of meteorological parameters (temperature, humidity, atmospheric pressure, wind) and outdoor air pollutants (particulate matter, ozone, nitrous dioxide) were analyzed at two statistical stages and in several specific steps (crude and adjusted models) according to Poisson's regression.

Consensus conference on TIPS management: Techniques, indications, contraindications.

The trans jugular intrahepatic Porto systemic shunt (TIPS) is no longer viewed as a salvage therapy or a bridge to liver transplantation and is currently indicated for a number of conditions related to portal hypertension with positive results in survival. Moreover, the availability of self-expandable polytetrafluoroethylene (PTFE)-covered endoprostheses has dramatically improved the long-term patency of TIPS. However, since the last updated International guidelines have been published (year 2009) new evidence have come, which have open the field to new indications and solved areas of uncertainty.

Poor repertoire General Movements predict some aspects of development outcome at 2 years in very preterm infants.

Background: Observation of the quality of endogenously generated "General Movements" has been proved to be a reliable and sensitive tool in the assessment of fragile neonates. The absence of fidgety movements at 2-4 months post-term is highly predictive of Cerebral Palsy. On the contrary, the presence of a poor repertoire pattern during the writhing period is not reliable in predicting motor or neurobehavioral disorders at any stage of development.

Brain cooling and eligible newborns: should we extend the indications?

Therapeutic hypothermia (whole body or selective head cooling) is recognized as standard of care for brain injury control in term infants with perinatal hypoxic ischemic encephalopathy (HIE). Recent metanalyses and systematic reviews in human newborns have shown a reduction in mortality and long-term neurodevelopmental disability at 12-24 months of age, with more favourable effects in the less severe forms of HIE. HIE is most often noted in term newborns.

Coupled plasma filtration adsorption.

Sepsis is one of the main causes of death in critically ill patients worldwide, and in many cases it is associated with renal and/or other organ failure. However, we do not have a unique efficient therapy to reduce this extremely high mortality rate. In the last years interest around the use of extracorporeal blood purification techniques has increased.

A slight decrease in renal function further impairs bone mineral density in primary hyperparathyroidism.

Background: The impairment of renal function can affect the clinical presentation of primary hyperparathyroidism (PHPT), increasing cardiovascular morbidity, fracture rate, and the risk of mortality.

Aim: The aim of the study was to assess the differences in bone status in a series of consecutive patients affected by PHPT without overt renal failure at diagnosis grouped according to creatinine clearance (Ccr).

Methods: A total of 161 consecutive patients with PHPT were studied.