Clinical Tools to Assess Functional Capacity During Risk Assessment Before Elective Noncardiac Surgery : A Scoping Review.

Background: Functional capacity is critical to preoperative risk assessment, yet guidance on its measurement in clinical practice remains lacking.

Purpose: To identify functional capacity assessment tools studied before surgery and characterize the extent of evidence regarding performance, including in populations where assessment is confounded by noncardiopulmonary reasons.

Data Sources: MEDLINE, EMBASE, and EBM Reviews (until July 2024).

Incidence and relative risk of delirium after major surgery for patients with pre-operative depression: a systematic review and meta-analysis.

Background: Delirium is a common and potentially serious complication after major surgery. A previous history of depression is a known risk factor for experiencing delirium in patients admitted to the hospital, but the generalised risk has not been estimated in surgical patients.

Methods: We conducted a systematic review and meta-analysis of studies reporting the incidence or relative risk (or relative odds) of delirium in the immediate postoperative period for adults with pre-operative depression.

Perioperative adverse events in adult patients with obstructive sleep apnea undergoing ambulatory surgery: An updated systematic review and meta-analysis.

Background: The suitability of ambulatory surgery for patients with obstructive sleep apnea (OSA) remains controversial. This systematic review and meta-analysis aimed to evaluate the odds of perioperative adverse events in patients with OSA undergoing ambulatory surgery, compared to patients without OSA.

Methods: Four electronic databases were searched for studies published between January 1, 2011 and July 11, 2023.

The impact of pre-operative depression on pain outcomes after major surgery: a systematic review and meta-analysis.

Symptoms of depression are common among patients before surgery. Depression may be associated with worse postoperative pain and other pain-related outcomes. This review aimed to characterise the impact of pre-operative depression on postoperative pain outcomes.

The prevalence and risk factors of sleep disturbances in surgical patients: A systematic review and meta-analysis.

Determining the prevalence and risk factors related to sleep disturbance in surgical patients would be beneficial for risk stratification and perioperative care planning. The objectives of this systematic review and meta-analysis are to determine the prevalence and risk factors of sleep disturbances and their associated postoperative complications in surgical patients. The inclusion criteria were: (1) patients ≥18 years old undergoing a surgical procedure, (2) in-patient population, and (3) report of sleep disturbances using a validated sleep assessment tool.

Clinical tools to assess functional capacity before elective non-cardiac surgery: a scoping review protocol.

Objective: The objective of this scoping review is to map the evidence on clinical tools to assess functional capacity prior to elective non-cardiac surgery.

Introduction: Functional capacity is a strong prognostic indicator before surgery, which can be used to identify patients at elevated risk of postoperative complications, yet, there is no consensus on which clinical tools should be used to assess functional capacity in patients prior to non-cardiac surgery.

Inclusion Criteria: This review will consider any randomized or non-randomized studies that evaluate the performance of a functional capacity assessment tool in adults (≥18 years) prior to non-cardiac surgery.

Postoperative outcomes in surgical patients with obstructive sleep apnoea diagnosed by sleep studies: a meta-analysis and trial sequential analysis.

Identifying surgical patients with obstructive sleep apnoea may assist with anaesthetic management to minimise postoperative complications. Using trial sequential analysis, we evaluated the impact of obstructive sleep apnoea diagnosed by polysomnography or home sleep apnoea testing on postoperative outcomes in surgical patients. Multiple databases were systematically searched.

Use and Performance of the STOP-Bang Questionnaire for Obstructive Sleep Apnea Screening Across Geographic Regions: A Systematic Review and Meta-Analysis.

Importance: Obstructive sleep apnea (OSA) is a highly prevalent global health concern and is associated with many adverse outcomes for patients.

Objective: To evaluate the utility of the STOP-Bang (snoring, tiredness, observed apnea, blood pressure, body mass index, age, neck size, gender) questionnaire in the sleep clinic setting to screen for and stratify the risk of OSA among populations from different geographical regions.

Data Sources And Study Selection: MEDLINE, MEDLINE In-process, Embase, EmCare Nursing, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, PsycINFO, Journals@Ovid, Web of Science, Scopus, and CINAHL electronic databases were systematically searched from January 2008 to March 2020.

Efficacy and Safety of N-Acetylcysteine for the Management of Chronic Pain in Adults: A Systematic Review and Meta-Analysis.

Objective: To assess the efficacy and safety of N-acetylcysteine in the treatment of chronic pain.

Methods: A systematic search was carried out until April 2020 for clinical studies of N-acetylcysteine in the management of any persistent or recurrent chronic pain condition for adults ≥ 18 years old. Risk of bias was assessed using the validated risk of bias tools.

Validation of the STOP-Bang questionnaire for screening of obstructive sleep apnea in the general population and commercial drivers: a systematic review and meta-analysis.

Purpose: Obstructive sleep apnea (OSA) is a critical occupational health concern, but is often undiagnosed in the general population and commercial drivers. The STOP-Bang questionnaire is a simple, reliable tool to screen for OSA, which could improve public health in a cost-effective manner. The objective of this systematic review and meta-analysis is to assess the validity of the STOP-Bang questionnaire to detect OSA in these key populations.

Identification of a De Novo Xq26.2 Microduplication Encompassing Gene in a Child with Intellectual Disability.

Long non-coding RNAs (lncRNAs), defined as transcripts of >200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson's, Huntington's, Alzheimer's diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case of a five-year-old child with global developmental delay carrying a de novo microduplication on chromosome Xq26.

Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.

Background: Monosomy 1p36 is the most common terminal deletion syndrome with an autosomal dominant pattern of inheritance. This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental delay and intellectual disability of various degree are present in all patients and about the 90% of patients have a severe intellectual disability. Dental agenesis or other dental anomalies have not been described in previous reports.

Conflicts of Interest in Inflammatory Bowel Disease Articles on UpToDate.

Background: Financial conflicts of interest (FCOIs) are widespread in inflammatory bowel disease (IBD) and may be particularly important in point-of-care (POC) resources, such as UpToDate, that are used to aid clinical decision making. In this study, we determined the prevalence of industry payments from companies making biologic medications for IBD to contributors of UpToDate articles on IBD.

Methods: This cross-sectional analysis included UpToDate articles that mention the use of biologic medications for IBD.

A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.

Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been determined.

Familial Mediterranean fever: breaking all the (genetic) rules.

Objective: FMF is an inherited autoinflammatory syndrome, characterized by attacks of painful periodic fever caused by diffuse serositis and risk of secondary amyloidosis due to IL-1β-mediated inflammation. The disease appears to be transmitted through autosomal recessive mutations in the MEFV gene encoding the pyrin protein Although more than 300 variants have been reported worldwide so far, their association with symptom severity, the relative frequencies in different populations and the disease penetrance are far from being completely understood. We investigated genotype-phenotype correlations in two large nuclear families and verified whether commonly used web-based tools can usefully predict variant pathogenicity in FMF.

Improved GMP compliant approach to manipulate lipoaspirates, to cryopreserve stromal vascular fraction, and to expand adipose stem cells in xeno-free media.

Background: The stromal vascular fraction (SVF) derived from adipose tissue contains adipose-derived stromal/stem cells (ASC) and can be used for regenerative applications. Thus, a validated protocol for SVF isolation, freezing, and thawing is required to manage product administration. To comply with Good Manufacturing Practice (GMP), fetal bovine serum (FBS), used to expand ASC in vitro, could be replaced by growth factors from platelet concentrates.

Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins.

Unlabelled: The co-occurrence of gonadal agenesis alongside hypoplastic derivatives of the paramesonephric ducts has rarely been observed.

Patient(s): 16-year-old dizygotic twin sisters were referred to our department because of primary amenorrhea. X-ray, bone densitometry, ultrasonography, pelvic MRI and measurement of pituitary, ovary, and thyroid hormones were performed.

Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.

Context: Pseudohypoparathyroidism type Ib (PHP-Ib) is a rare imprinting disorder characterized by end-organ resistance to PTH and, frequently, to thyroid-stimulating hormone. PHP-Ib familial form, with an autosomal dominant pattern of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an isolated loss of methylation at the guanine nucleotide-binding protein α-stimulating activity polypeptide 1 A/B differentially methylated region (DMR), secondary to genetic deletions disrupting the upstream imprinting control region in the syntaxin-16 (STX16) locus. However, deletions described up to now failed to account some cases of patients with a methylation defect limited to the A/B DMR; thus, it is expected the existence of other still unknown rearrangements, undetectable with conventional molecular diagnostic methods.

Stathmin regulates mutant p53 stability and transcriptional activity in ovarian cancer.

Stathmin is a p53-target gene, frequently overexpressed in late stages of human cancer progression. Type II High Grade Epithelial Ovarian Carcinomas (HG-EOC) represents the only clear exception to this observation. Here, we show that stathmin expression is necessary for the survival of HG-EOC cells carrying a p53 mutant (p53(MUT) ) gene.

Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay.

Objective: To explain the lack of genotype-phenotype correlation observed in a patient double heterozygous for the 852del22 and F508del mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Design: Case report.

Setting: Medical laboratory department.

Somatic mosaicism in a patient with Lynch syndrome.

Genetic mosaicism is the presence of genetically different cell populations within an individual and can be associated with a milder disease phenotype. We describe a somatic mosaicism in a Lynch syndrome patient with a MLH1 gene mutation (c.1050delA).

Sequence analysis of the immunoglobulin antigen receptor of hepatitis C virus-associated non-Hodgkin lymphomas suggests that the malignant cells are derived from the rheumatoid factor-producing cells that occur mainly in type II cryoglobulinemia.

Analysis of the immunoglobulin receptor (IGR) variable heavy- and light-chain sequences on 17 hepatitis C virus (HCV)-associated non-Hodgkin lymphomas (NHLs) (9 patients also had type II mixed cryoglobulinemia [MC] syndrome and 8 had NHL unrelated to MC) and analysis of intraclonal diversity on 8 of them suggest that such malignant lymphoproliferations derive from an antigen-driven pathologic process, with a selective pressure for the maintenance of a functional IgR and a negative pressure for additional amino acid mutations in the framework regions (FRs). For almost all NHLs, both heavy- and light-chain complementarity-determining regions (CDR3) showed the highest similarity to antibodies with rheumatoid factor (RF) activity that have been found in the MC syndrome, thus suggesting that a common antigenic stimulus is involved in MC syndrome and in HCV-associated lymphomagenesis. Moreover, because HCV is the recognized pathologic agent of MC and the CDR3 amino acid sequences of some HCV-associated NHLs also present a high homology for antibody specific for the E2 protein of HCV, it may be reasonable to speculate that HCV E2 protein is one of the chronic antigenic stimuli involved in the lymphomagenetic process.