Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study.

Background And Objectives: Quality of life (QoL) in children with facioscapulohumeral dystrophy (FSHD) seems plausible decreased. Little is known about factors influencing QoL in children with FSHD. Our objective is to explore factors contributing to the QoL of children, adolescents, and young adults with FSHD, to describe how they experience life with FSHD, and to report their support needs.

Comparative analysis of mortality in patients admitted with an infection with influenza A/B virus, respiratory syncytial virus, rhinovirus, metapneumovirus or SARS-CoV-2.

Background: While influenza virus and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are recognised as a cause of severe illness and mortality, clinical interest for respiratory syncytial virus (RSV), rhinovirus and human metapneumovirus (hMPV) infections is still limited.

Methods: We conducted a retrospective database study comparing baseline characteristics and 30-day mortality in a large cohort of adult patients admitted for an overnight stay or longer with an influenza virus (A/B), rhinovirus, hMPV, RSV or SARS-CoV-2 infection. For non-SARS-CoV-2 viruses, data were included for the period July 2017-February 2020.

A Qualitative Study on the Effects of the COVID-19 Pandemic on Solid Organ Transplantation.

Solid organ transplantation is a lifesaving intervention requiring extensive coordination and communication for timely and safe care. The COVID-19 pandemic posed unique challenges to the safety and management of solid organ transplantation. This descriptive qualitative study aimed to understand how hospital stakeholders were affected by and responded to the COVID-19 pandemic to contribute toward improved healthcare delivery responses and strategies during times of systemic strain on the healthcare system.

A Randomized Three-Arm Double-Blind Placebo-Controlled Study of Homeopathic Treatment of Children and Youth with Attention-Deficit/Hyperactivity Disorder.

Approximately 30% of children diagnosed with attention-deficit/hyperactivity disorder (ADHD), the most prevalent mental health disorder in children worldwide, do not respond to conventional pharmaceutical treatments. Previous studies of homeopathic treatment for ADHD have been inconclusive. The objectives of this study were to determine if there (a) is an overall effect of homeopathic treatment (homeopathic medicines plus consultation) in the treatment of ADHD; (b) are any specific effects the homeopathic consultation alone in the treatment of ADHD; and (c) are any specific effects of homeopathic medicines in the treatment of ADHD.

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium-sensing receptor (CaSR). To date, four probands with FHH2-associated Gα11 mutations and eight probands with ADH2-associated Gα11 mutations have been reported. In a 10-year period, we identified 37 different germline GNA11 variants in >1200 probands referred for investigation of genetic causes for hypercalcemia or hypocalcemia, comprising 14 synonymous, 12 noncoding, and 11 nonsynonymous variants.

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.

We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory failure during respiratory infections. This and other cases were reported as isolated dystrophy of the diaphragmatic musculature.

Toward a 'green allopathy'? Naturopathic paradigm and practice in Ontario, Canada.

Epistemic tensions have long been evident within naturopathy, a heterodox healthcare occupation licensed across much of North America. Naturopaths less inclined toward bioscientific explanatory and evidentiary norms have long used the trope of the 'green allopath' to critique the practices of their more biomedically- (i.e.

Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.

Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations. Anticipation leads to an earlier and more severe phenotype in subsequent generations. Early-onset cataract is a common initial manifestation of the late or adult-onset type of myotonic dystrophy 1.

GPs' perspectives on diagnosing childhood urinary tract infections: a qualitative study.

Background: Diagnosis and management of childhood urinary tract infection (UTI) is challenging in general practice because of a range of factors.

Aim: To explore GPs' perspectives concerning the barriers to and facilitators for diagnosis and management of childhood UTI.

Design And Setting: Qualitative study in general practice in Belgium.

Incidence rates and trends of childhood urinary tract infections and antibiotic prescribing: registry-based study in general practices (2000 to 2020).

Background: To improve the management of childhood urinary tract infections, it is essential to understand the incidence rates, testing and treatment strategy.

Methods: A retrospective study using data from 45 to 104 general practices (2000 to 2020) in Flanders (Belgium). We calculated the incidence rates (per 1000 person-years) of cystitis, pyelonephritis, and lab-based urine tests per age (< 2, 2-4, 5-9 and 10-18 years)) and gender in children and performed an autoregressive time-series analysis and seasonality analysis.

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Objective: The autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder characterised by immune dysregulation and autoimmune endocrine gland destruction. APS-1 is caused by biallelic mutations affecting the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which facilitates immunological self-tolerance.

Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.

Background: The slow channel syndrome is a rare hereditary disorder caused by a dominant gain-of-function variant in one of the subunits of the acetylcholine receptor at the neuromuscular junction. Patients typically experience axial, limb and particularly extensor finger muscle weakness.

Objective: Age at diagnosis is variable and although the long-term prognosis is important for newly diagnosed patients, extensive follow-up studies are rare.

Clinical prediction rules for childhood urinary tract infections: a cross-sectional study in ambulatory care.

Background: Diagnosing childhood urinary tract infections (UTIs) is challenging. Clinical prediction rules may help to identify children that require urine sampling. However, there is a lack of research to determine the accuracy of the scores in general practice.

Safety, Effectiveness, and Professional Judgment: A Survey of Training-Related Perspectives Among Physiotherapists Who Practise Acupuncture in Ontario.

Physiotherapists practise various forms of acupuncture worldwide, but no international consensus exists as to the appropriate duration of related training programs. In this cross-sectional study, we aimed to characterize the training-related backgrounds and views of acupuncture-practising physiotherapists. A total of 426 physiotherapists who practised acupuncture in Ontario completed an online survey that included training-related items and an open-ended question (39 provided training-related responses).

A mixed-methods survey of physiotherapists who practice acupuncture and dry needling in Ontario, Canada: practice characteristics, motivations, and professional outcomes.

Background: Physiotherapists (PTs) across the globe are increasingly incorporating filiform needling techniques (e.g., acupuncture, dry needling) into their clinical toolkits; and, the evidence base for these complementary therapies is becoming progressively more robust.

Point-of-care tests for pediatric urinary tract infections in general practice: a diagnostic accuracy study.

Background: Early diagnosis of pediatrics urinary tract infections in the outpatient settings is challenging but essential to prevent hospitalization and kidney damage.

Objective: We aimed to evaluate the diagnostic test accuracy of a selection of point-of-care tests for pediatric urinary tract infections in general practice.

Methods: A prospective cross-sectional study in 26 general practices in Flanders, Belgium (clinicaltrials.

Clinical Features for the Diagnosis of Pediatric Urinary Tract Infections: Systematic Review and Meta-Analysis.

Purpose: Accurate diagnosis of urinary tract infection in children is essential because children left untreated can experience permanent renal injury. We aimed to assess the diagnostic value of clinical features of pediatric urinary tract infection.

Methods: We performed a systematic review and meta-analysis of diagnostic test accuracy studies in ambulatory care.

Outpatient urine collection methods for paediatric urinary tract infections: Systematic review of diagnostic accuracy studies.

Aim: To investigate the diagnostic test accuracy of urine collection methods for urinary tract infections in outpatient children.

Methods: A systematic literature review until April 2021 (Medline, Web of Science, Embase, Cinahl) to examine the diagnostic test accuracy of urine culture on collection methods for urinary tract infection in outpatient children below 18 years. Contamination rates were studied as secondary outcome.

A cross-sectional workforce survey of three traditional and complementary medicine professions in Ontario, Canada.

Background: Workforce studies about traditional and complementary medicine (T&CM) occupations in industrialized countries are scant; and, these occupations' position within the broader occupational workforce remains unclear. This study aims to address these gaps using a comparative approach.

Methods: Naturopaths, traditional Chinese medicine (TCM) / acupuncture practitioners, and homeopaths in Ontario, Canada were surveyed regarding their demographics, practice characteristics and self-reported income.

A Comparative Study for License Application Regulations on Proprietary Chinese Medicines in Hong Kong and Canada.

Chinese Medicine plays a symbolic role among traditional medicines. As Chinese Medicine products are widely used around the globe, regulations for Chinese Medicine products are often used as models for the efficient regulation of natural products that are safe, and high-quality. We aimed to compare the regulatory registration requirements for Proprietary Chinese Medicines in Hong Kong and Canada.

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 () Variant.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid tumors, pituitary adenomas, and pancreatic neuroendocrine neoplasms (PNENs). MEN1 is caused by germline mutations in > 75% of patients, and the remaining 25% of patients may have mutations in unidentified genes or represent phenocopies with mutations in genes such as cell cycle division 73 (, the calcium sensing receptor (, and cyclin-dependent kinase inhibitor 1B (, which are associated with the hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia type 1, and MEN4, respectively. Here, we report a heterozygous c.