Key Facts

Metabolic disorders are associated with a wide variety of cardiovascular manifestations, including cardiomyopathy, dysrhythmias and conduction disturbances, valvular heart disease, vascular disorders, and pulmonary hypertension.

Most metabolic cardiomyopathies result from disorders of energy production, mostly involving other organs, particularly skeletal muscle and liver.

Taken as a group, the disorders of fatty acid oxidation and of oxidative phosphorylation are the most common causes of metabolic cardiomyopathies; another important group is disorders of glycogen metabolism, especially Pompe disease.

In some metabolic disorders, the cardiac manifestations may be late, subtle, or secondary to metabolic derangements in other organs.

Valvular dysfunction and infiltrative cardio-myopathy occur as a late complication in many lysosomal storage disorders.

Myocardial dysfunction is common in hemo-chromatosis, a metabolic cardiomyopathy most easily prevented.

Symptomatic coronary heart and cerebrovas-cular disease during childhood is restricted to severe defects of low-density lipoprotein metabolism.

Peripheral vascular disease is prominent in homocystinuria. Disorders of lipoproteins metabolism possess a significant long-term, but modifiable burden of premature atherosclerosis to a large number of children.

Pulmonary arterial hypertension may be a quite rare complication in a few metabolic diseases, especially glycogen storage disease I.

Mutations in genes encoding K_ATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of K_ATP channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional K_ATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing K_ATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of K_ATP loss- versus gain-of-function.

This review article summarizes recent research into the mechanisms as to how elevated levels of triglyceride (TG) and low levels of high- density- lipoprotein cholesterol (HDL-C) contribute to inflammation and atherosclerosis. Evidence supports the role of TG-rich lipoproteins in signaling mechanisms via apolipoproteins C-III and free fatty acids leading to activation of NFKβ, VCAM-1 and other inflammatory mediators which lead to fatty streak formation and advanced atherosclerosis. Moreover, the cholesterol content in TG-rich lipoproteins has been shown to predict CAD risk better than LDL-C. In addition to reverse cholesterol transport, HDL has many other cardioprotective effects which include regulating immune function. The “functionality” of HDL appears more important than the level of HDL-C. Insulin resistance and central obesity underlie the pathophysiology of elevated TG and low HDL-C in metabolic syndrome and type 2 diabetes. Lifestyle recommendations including exercise and weight loss remain first line therapy in ameliorating insulin resistance and the adverse signaling processes from elevated levels of TG-rich lipoproteins and low HDL-C.

Background

Naturopathy is a distinct system of traditional and complementary medicine recognized by the World Health Organization and defined by its philosophic approach to patient care, rather than the treatments used by practitioners. Worldwide, over 98 countries have practicing naturopaths, representing 36% of all countries and every world region. The contributions of naturopaths to healthcare delivery services internationally has not been previously examined. Thus, the primary intention of this research was to conduct an international survey of naturopathic practice and patient characteristics in order to gain insight to the breadth of their practices and the type of clinical conditions routinely encountered.

Methods

The cross-sectional study was conducted in naturopathic clinics in 14 countries within 4 world regions including the European (Portugal, United Kingdom, Switzerland, Spain), Americas (Canada, United States, Chile, Brazil), Western Pacific (Hong Kong, Australia, New Zealand) and African (South Africa). Naturopathic practitioners in each country were invited to prospectively complete an online survey for 20 consecutive cases. The survey was administered in four languages.

Results

A total of 56 naturopaths from 14 countries participated in the study, providing a mean of 15.1 cases each (SD 7.6) and 851 cases in total. Most patients were female (72.6%) and all age categories were represented with a similar proportion for 36–45 years (20.2%), 46–55 years (19.5%), and 56–65 years (19.3%). A substantial majority (75%) of patients were considered by the participant to be presenting with chronic health conditions. The most prevalent category of health conditions were musculoskeletal (18.5%), gastrointestinal (12.2%), and mental illness (11.0%). The most common treatment categories prescribed or recommended to patients by the participants were dietary changes (60.5%), lifestyle and behaviour changes (56.9%), herbal medicines (54.2%) and nutritional supplements (52.1%). Many patients were known by participants to be receiving care from a general practitioner (43.2%) or a specialist medical practitioner (27.8%).

Conclusions

Naturopathic practitioners provide health care for diverse health conditions in patients in different age groups. The global population would benefit from researchers and policy makers paying closer attention to the potential risks, benefits, challenges and opportunities of the provision of naturopathic care within the community.

Mammals receive light information through the eyes, which perform two major functions: image forming vision to see objects and non-image forming adaptation of physiology and behavior to light. Cone and rod photoreceptors form images and send the information via retinal ganglion cells to the brain for image reconstruction. In contrast, nonimage-forming photoresponses vary widely from adjustment of pupil diameter to adaptation of the circadian clock. nonimage-forming responses are mediated by retinal ganglion cells expressing the photopigment melanopsin. Melanopsin-expressing cells constitute 1–2% of retinal ganglion cells in the adult mammalian retina, are intrinsically photosensitive, and integrate photic information from rods and cones to control nonimage-forming adaptation. Action spectra of ipRGCs and of melanopsin photopigment peak around 480 nm blue light. Understanding melanopsin function lets us recognize considerable physiological effects of blue light, which is increasingly important in our modern society that uses light-emitting diode. Misalignment of circadian rhythmicity is observed in numerous conditions, including aging, and is thought to be involved in the development of age-related disorders, such as depression, diabetes, hypertension, obesity, and cancer. The appropriate regulation of circadian rhythmicity by proper lighting is therefore essential. This perspective introduces the potential risks of excessive blue light for human health through circadian rhythm disruption and sleep deprivation. Knowing the positive and negative aspects, this study claims the importance of being exposed to light at optimal times and intensities during the day, based on the concept of the circadian clock, ultimately to improve quality of life to have a healthy and longer life.

Background

There are several situations in which magnetic resonance imaging (MRI) might impact whether an cerebrovascular event is considered a new stroke. These include clinically non-focal events with positive imaging for acute cerebral infarction, and worsening of older symptoms without evidence of new infarction on MRI. We sought to investigate the impact of MRI on stroke detection and stroke incidence, by describing agreement between a strictly clinical definition of stroke and a definition based on physician opinion, including MRI imaging findings.

Methods

All hospitalized strokes that occurred in five Ohio and Northern Kentucky counties (population 1.3 million) in the calendar year of 2005 were identified using ICD-9 discharge codes 430–436. The two definitions used were: “clinical case definition” which included sudden onset focal neurologic symptoms referable to a vascular territory for >24 h, compared to the “best clinical judgment of the physician definition”, which considers all relevant information, including neuroimaging findings. The 95 % confidence intervals (CI) for the incidence rates were calculated assuming a Poisson distribution. Rates were standardized to the 2000 U.S. population, adjusting for age, race, and sex, and included all age groups.

Results

There were 2403 ischemic stroke events in 2269 patients; 1556 (64 %) had MRI performed. Of the events, 2049 (83 %) were cases by both definitions, 185 (7.7 %) met the clinical case definition but were non-cases in the physician’s opinion and 169 (7.0 %) were non-cases by clinical definition but were cases in the physician’s opinion. There was no significant difference in the incidence rates of first-ever or total ischemic strokes generated by the two different definitions, or when only those with MRI imaging were included.

Conclusions

We found that MRI findings do not appear to substantially change stroke incidence estimates, as the strictly clinical definition of stroke did not significantly differ from a definition that included imaging findings. Including MRI in the case definition “rules out” almost the same number of strokes as it “rules in”.

We describe the impact of community health workers (CHWs) providing community-based support services to enrollees who are high consumers of health resources in a Medicaid managed care system. We conducted a retrospective study on a sample of 448 enrollees who were assigned to field-based CHWs in 11 of New Mexico’s 33 counties. The CHWs provided patients education, advocacy and social support for a period up to 6 months. Data was collected on services provided, and community resources accessed. Utilization and payments in the emergency department, inpatient service, non-narcotic and narcotic prescriptions as well as outpatient primary care and specialty care were collected on each patient for a 6 month period before, for 6 months during and for 6 months after the intervention. For comparison, data was collected on another group of 448 enrollees who were also high consumers of health resources but who did not receive CHW intervention. For all measures, there was a significant reduction in both numbers of claims and payments after the community health worker intervention. Costs also declined in the non-CHW group on all measures, but to a more modest degree, with a greater reduction than in the CHW group in use of ambulatory services. The incorporation of field-based, community health workers as part of Medicaid managed care to provide supportive services to high resource-consuming enrollees can improve access to preventive and social services and may reduce resource utilization and cost.

Background and aims

Acute appendicitis (AA) is among the most common causes of acute abdominal pain. Diagnosis of AA is still challenging and some controversies on its management are still present among different settings and practice patterns worldwide.

In July 2015, the World Society of Emergency Surgery (WSES) organized in Jerusalem the first consensus conference on the diagnosis and treatment of AA in adult patients with the intention of producing evidence-based guidelines. An updated consensus conference took place in Nijemegen in June 2019 and the guidelines have now been updated in order to provide evidence-based statements and recommendations in keeping with varying clinical practice: use of clinical scores and imaging in diagnosing AA, indications and timing for surgery, use of non-operative management and antibiotics, laparoscopy and surgical techniques, intra-operative scoring, and peri-operative antibiotic therapy.

Methods

This executive manuscript summarizes the WSES guidelines for the diagnosis and treatment of AA. Literature search has been updated up to 2019 and statements and recommendations have been developed according to the GRADE methodology. The statements were voted, eventually modified, and finally approved by the participants to the consensus conference and by the board of co-authors, using a Delphi methodology for voting whenever there was controversy on a statement or a recommendation. Several tables highlighting the research topics and questions, search syntaxes, and the statements and the WSES evidence-based recommendations are provided. Finally, two different practical clinical algorithms are provided in the form of a flow chart for both adults and pediatric (< 16 years old) patients.

Conclusions

The 2020 WSES guidelines on AA aim to provide updated evidence-based statements and recommendations on each of the following topics: (1) diagnosis, (2) non-operative management for uncomplicated AA, (3) timing of appendectomy and in-hospital delay, (4) surgical treatment, (5) intra-operative grading of AA, (6) ,management of perforated AA with phlegmon or abscess, and (7) peri-operative antibiotic therapy.

Mood disorders are ubiquitous. They are passed on via genetic risk, directly linked to other medical conditions, triggered by social events beyond our control, and resist treatment through our own subconscious defenses. With a continued shortage of psychiatrists, it is essential that providers are able to screen, identify, and potentially treat these mood conditions.