Feasibility of Setting the Tidal Volume Based on End-Expiratory Lung Volume: A Pilot Clinical Study.

Objectives: To assess the feasibility of setting the tidal volume (TV) as 25% of the actual aerated lung volume (rather than on ideal body weight) in patients with Acute Respiratory Distress Syndrome (ARDS).

Design: Physiologic prospective single-center pilot study.

Setting: Medical ICU specialized in the care of patients with ARDS.

Diverticulitis, surgery, evidence-based medicine, and the Steve Jobs' dots: a narrative review.

Purpose: Emergency treatment of acute diverticulitis remains a hazy field. Despite a number of clinical studies, randomized controlled trials (RCTs), guidelines and surgical societies recommendations, the most critical hot topics have yet to be addressed.

Methods: Literature research from 1963 until today was performed.

Evaluation of Simplified Diet Scores Related to -Reactive Protein in Heavy Smokers Undergoing Lung Cancer Screening.

The aim of this study was to assess the relationship between adherence to a healthy diet, such as the Mediterranean diet (MedDiet), and -reactive protein (CRP) in Italian heavy smokers undergoing an LDCT screening program (bioMILD trial), using scores calculated by simple questionnaires. Simple formats of food frequency questionnaires were administered to a sample of 2438 volunteers, and the adherence to a healthy diet was measured by the validated 14-point MEDAS and by two adaptations proposed by us: 17-item revised-MEDAS and 18-item revised-MEDAS. The OR of CRP ≥ 2 mg/L for 1-point increase in 14-point MEDAS score was 0.

Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.

Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic variants were found only for rare forms of cataract but not for retinopathies. The aim of this study was to characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. Electroretinography in an affected calf revealed absent cone-mediated function, whereas the rods continue to function normally.

GSH-Independent Induction of ER Stress during Hypoglycaemia in the Retinal Cells of Mice.

Glucose is one of the most important metabolic substrates of the retina, and glycaemic imbalances can lead to serious side effects, including retinopathy. We previously showed that hypoglycaemia induces retinal cell death in mice, as well as the implication of glutathione (GSH) in this process. This study aimed to analyse the role of low glucose-induced decrease in GSH levels in endoplasmic reticulum (ER) stress.

Helmet and face mask for non-invasive respiratory support in patients with acute hypoxemic respiratory failure: A retrospective study.

Purpose: Non-invasive respiratory support could reduce the incidence of intubation in patients with Acute Hypoxemic Respiratory Failure (AHRF). The optimal interface or modality of non-invasive respiratory support is debated. We sought to evaluate the differences between patients who succeeded or failed non-invasive respiratory support, with a specific focus on the type of non-invasive respiratory support (i.

Molecular Biomarkers of Neovascular Age-Related Macular Degeneration With Incomplete Response to Anti-Vascular Endothelial Growth Factor Treatment.

The standard treatment for neovascular age-related macular degeneration (nAMD) consists of intravitreal anti-vascular endothelial growth factors (VEGF). However, for some patients, even maximal anti-VEGF treatment does not entirely suppress exudative activity. The goal of this study was to identify molecular biomarkers in nAMD with incomplete response to anti-VEGF treatment.

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Introduction: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised treatment. Although treatment guidelines are available, the methodology used to develop this guidance has come under increased scrutiny.

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Introduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI.

Orthopaedic challenges for mucopolysaccharidoses.

Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular system is always involved. The aim of the present study was to establish a framework for MPS-related orthopaedic manifestations and for their treatment.

The effects of uninvolved side epiphysiodesis for limb length equalization in children with unilateral cerebral palsy: clinical evaluation with the Edinburgh visual gait score.

Purpose: Hemiplegic cerebral palsy patient may present a shorten leg on the hemiplegic side that afflicts negatively the kinematic of the uninvolved limb. Thus, the aim of this study was to investigate the modification of gait kinematic after epiphysiodesis for limb equalization and secondary to verify the prediction of correction.

Methods: Skeletally immature hemiplegic patients with a minimum limb leg discrepancy (LLD) of 2.

Breast cancer survival by molecular subtype: a population-based analysis of cancer registry data.

Background: The relation between breast cancer molecular subtype and survival has been studied in several jurisdictions, but limited information is available for Ontario. The aim of this study was to determine breast cancer survival by molecular subtype and to assess the effect on survival of selected demographic and tumour-based characteristics.

Methods: We extracted 29 833 breast cancer cases (in 26 538 girls and women aged ≥ 15 yr) diagnosed between 2010 and 2012 from the Ontario Cancer Registry.

Polycystic Kidney Disease without an Apparent Family History.

The absence of a positive family history (PFH) in 10%-25% of patients poses a diagnostic challenge for autosomal dominant polycystic kidney disease (ADPKD). In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease, 210 affected probands underwent renal function testing, abdominal imaging, and comprehensive and mutation screening. From this cohort, we reviewed all patients with and without an apparent family history, examined their parental medical records, and performed renal imaging in all available parents of unknown disease status.

Correction of lower limb deformities in children with renal osteodystrophy by guided growth technique.

Purpose: Renal osteodystrophy (ROD) may cause severe lower limb deformities in children. The purpose of this study is to evaluate the efficacy of the temporary hemiepiphysiodesis for the correction of lower limb deformities in children with ROD.

Methods: Guided growth correction by hemiepiphysiodesis has been performed in skeletally immature patients with deformities of the lower limbs caused by ROD.

Unique medical issues in adult patients with mucopolysaccharidoses.

The mucopolysaccharidoses are a group of inherited metabolic diseases caused by deficiencies in enzymes involved in the sequential degradation of glycosaminoglycans (GAGs) leading to substrate accumulation in various tissues and organs. GAG accumulation can cause growth retardation and progressive damage to respiratory, cardiovascular, musculoskeletal, nervous, gastrointestinal, auditory, and visual systems. In the past, few people with severe phenotypic mucopolysaccharidosis (MPS) reached adulthood.

Community-based participatory research to improve life quality and clinical outcomes of patients with breast cancer (DianaWeb in Umbria pilot study).

Introduction: Breast cancer (BC) is the most frequent cancer in Europe and the International Agency for Research on Cancer (IARC) has estimated over 460 000 incident cases per year. Survival among patients with BC has increased in the past decades and EUROCARE-5 has estimated a 5-year relative survival rate of 82% for patients diagnosed in 2000-2007. There is growing evidence that lifestyle (such as a diet based on Mediterranean principles associated with moderate physical activity) may influence prognosis of BC; however, this information is not currently available to patients and is not considered in oncology protocols.

The treatment of complex proximal humeral fractures: analysis of the results of 55 cases treated with PHILOS plate.

Complex proximal humerus fractures are often difficult to treat. Their frequency is high, especially in the elderly, and their treatment is still controversial. The aim of this study was to analyze the clinical and radiological results achieved by patients with complex proximal humerus fractures, treated with PHILOS plate only.

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Background: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment of the disease is mainly performed by Enzyme Replacement Therapy (ERT) with idursulfase, in use since 2006. Clinical efficacy of ERT has been monitored mainly by the Hunter Outcome Survey (HOS) while very few independent studies have been so far conducted.

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.

Background: Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal disease, including hip dysplasia, is almost invariably present in MPS I-H, and appears to be particularly unresponsive to HSCT.

RARS with fibrosis and del(20q) transformed into ALL.

Transformation of myelodysplastic syndrome (MDS) into acute myelogenous leukemia occurs in approximately 30 % of cases, while progression into acute lymphoblastic leukemia (ALL) is rare. We report on a 67-year-old man with the diagnosis of MDS, subtype refractory anemia with ring sideroblasts (RARS), karyotype 20q- , JAK-2 negative and grade III fibrosis on the bone marrow biopsy, who evolved into ALL 33 months after the diagnosis of MDS. RARS is one of the subtypes of MDS with most indolent course.

Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations.

Acute promyelocytic leukemia (APL) is characterized by the presence of the t(15;17) and PML-RARa rearrangement, with good response to treatment with retinoids. However, few cases of variant APL involving alternative chromosomal aberrations have been reported, including t(11;17)(q23;q21) (Wells et al. in Nat Genet 17:109-113, 1; Arnould et al.

Adjuvant bisphosphonates in endocrine-responsive breast cancer: what is their place in therapy?

Recent advances in the treatment of early breast cancer have improved clinical outcomes and prolonged survival, especially in women with endocrine-responsive disease. However, cancer therapies including cytotoxic chemotherapy, ovarian suppression, and aromatase inhibitors can drastically reduce circulating estrogen, increasing bone loss and fracture risk. Because most women with early breast cancer will live for many years, it is important to protect bone health during cancer therapy.

Septic physeal separation of proximal femur in a newborn.

In newborns physeal separations and septic osteomyelitis or arthritis are unusual, representing a problem in diagnosis and treatment. Therapy needs to be carried out soon in order to prevent anatomical and functional consequences. Association between septic event and physeal separation is rare.

Is Endocrine Therapy Really Pleasant? Considerations about the Long-Term Use of Antihormonal Therapy and Its Benefit/Side Effect Ratio.

Endocrine therapy has become a key part in the adjuvant treatment of hormone responsive breast cancer. The positive effect on relapse risk reduction is well defined, but therapy is not free from bothersome side effects for which estrogen deprivation accounts to a great extent. Since endocrine therapy is usually prescribed for 5 years or longer to optimally display its protective effect, and because physical strain is missing, good tolerability and safety properties are important, particularly in low-risk patients.

Pulled elbow in infancy: Diagnostic role of imaging.

Purpose: Pulled elbow is a common injury in infancy. Typically the child, after a sudden pull, refuses to use the arm. The history and clinical findings are sufficient to make the diagnosis, and radiography or ultrasonography are not necessary.