Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed imprinted genes on chromosome 15q11–13. Individuals with PWS typically experience feeding difficulties and a lack of appetite in infancy, followed by weight gain, uncontrolled appetite, and a lack of satiety. Hyperphagia in PWS is exacerbated by impaired satiety, low energy expenditure, and intellectual difficulties, including obsessive-compulsive disorder and/or autistic behaviors.Without rigorous external management of their eating behaviors, patients with PWS become severely obese and are at a higher risk of obesity-related morbidities, such as type 2 diabetes, obstructive sleep apnea, and hypertension. Moreover, the main causes of death for PWS are obesity-related comorbidities, such as renal failure, pulmonary embolism, and respiratory and heart failure. Clinical experiences with different supplements, diets, and other methods have not been encouraging.However, therapeutic options for patients with PWS may be improving, based on recent clinical trials for a number of medications. This report reviews the causes and management of hyperphagia, as well as previous and recent clinical trials aimed at treating hyperplasia in PWS. We are optimistic that the novel treatments currently in development will help alleviate the complex metabolic issues associated with PWS.

Acute pancreatitis (AP) rarely occurs in association with food allergy (FA), and the mechanism is not clearly explored. We herein report a rare case of egg protein-induced AP. A 5-year-old girl was brought to the hospital because of tongue pruritus and an increased level of egg white-specific immunoglobulin E. During an oral food challenge, she developed hives, abdominal pain and vomiting after ingestion of a cumulative of 610 mg of boiled egg white (70 mg of protein). After management with intramuscular injection of epinephrine and orally administered prednisolone and levocetirizine, her skin symptoms improved. The next day, blood tests showed elevated levels of amylase and lipase, and computed tomography revealed a swollen pancreas with a low-attenuated necrotic portion. She was diagnosed with AP and treated with food restriction, intravenous methylprednisolone and gabexate mesilate. The serum levels of amylase and lipase were reduced to normal levels on day 5 and her symptoms completely resolved on day 10. A suspicion of food-induced AP is required for correct diagnosis and proper management in children with FA when they manifest severe abdominal pain.

The association between lung injury and exposure to humidifier disinfectant (HD) containing a mixture of chloromethylisothiazolinone (CMIT) and methylisothiazolinone (MIT) has been controversial in South Korea. This study conducts a literature review in order to evaluate the likelihood of CMIT/MIT reaching the lower part of the respiratory tract and causing lung injury. A literature review focused on the inhalation risk of HD containing a mixture of CMIT and MIT. The major contents included the physicochemical properties of CMIT and MIT contained in HDs and methodological reviews on substance analysis, toxicity tests and clinical cases. HD products marketed in South Korea have been reported to contain approximately 1–2% CMIT and 0.2–0.6% MIT along with magnesium nitrate (20–25%), magnesium chloride (0.2–1.0%), and water (70–75%). The types of CMIT and MIT dispersed into the air and deposited in the respiratory tract are assumed to be either gaseous substances or nanoparticles mixed with magnesium salts. The result of the literature review including clinical cases of lung injury among CMIT/MIT HD product users, demonstrated that these chemicals likely reach the lower respiratory tract and accordingly cause lung injury.A number of humidifier disinfectant-associated lung injury cases with clinical evidence should be prioritized in risk assessment of HD containing CMIT and MIT, even though there might be insufficient evidence in all related areas, including inhalation exposure assessment studies, animal testing, and epidemiological studies.

Background: Reduced exercise capacity reflects symptom severity and clinical outcomes in patients with hypertrophic cardiomyopathy (HCM). The present study aimed to identify factors that may affect exercise capacity in patients with HCM. Methods: In 294 patients with HCM and preserved left ventricular (LV) ejection fraction, we compared peak oxygen consumption (peak VO2 ) evaluated by cardiopulmonary exercise testing as a representative parameter of exercise tolerance with clinical and laboratory data, including N-terminal pro-hormone of brain natriuretic peptide (NT-proBNP), diastolic parameters on echocardiography, and the grade of myocardial fibrosis on cardiac magnetic resonance imaging (CMR). Results: Median peak VO2 , was 29.0 mL/kg/min (interquartile range [IQR], 25.0–34.0). Age (estimated β = −0.140, P < 0.001), female sex (β = −5.362, P < 0.001), NT-proBNP (β = −1.256, P < 0.001), and E/e′ ratio on echocardiography (β = −0.209, P = 0.019) were significantly associated with exercise capacity. Peak VO2 was not associated with the amount of myocardial fibrosis on CMR (mean of late gadolinium enhancement 12.25 ± 9.67%LV). Conclusion Decreased exercise capacity was associated with age, female sex, increased NTproBNP level, and E/e′ ratio on echocardiography. Hemodynamic changes and increased filling pressure on echocardiography should be monitored in this population for improved outcomes.

Background: There has been no comparison of the determinants of admission route between acute ischemic stroke (AIS) and acute myocardial infarction (AMI). We examined whether factors associated with direct versus transferred-in admission to regional cardiocerebrovascular centers (RCVCs) differed between AIS and AMI. Methods: Using a nationwide RCVC registry, we identified consecutive patients presenting with AMI and AIS between July 2016 and December 2018. We explored factors associated with direct admission to RCVCs in patients with AIS and AMI and examined whether those associations differed between AIS and AMI, including interaction terms between each factor and disease type in multivariable models. To explore the influence of emergency medical service (EMS) paramedics on hospital selection, stratified analyses according to use of EMS were also performed. Results: Among the 17,897 and 8,927 AIS and AMI patients, 66.6% and 48.2% were directly admitted to RCVCs, respectively. Multivariable analysis showed that previous coronary heart disease, prehospital awareness, higher education level, and EMS use increased the odds of direct admission to RCVCs, but the odds ratio (OR) was different between AIS and AMI (for the first 3 factors, AMI > AIS; for EMS use, AMI < AIS). EMS use was the single most important factor for both AIS and AMI (OR, 4.72 vs. 3.90). Hypertension and hyperlipidemia increased, while living alone decreased the odds of direct admission only in AMI;additionally, age (65–74 years), previous stroke, and presentation during non-working hours increased the odds only in AIS. EMS use weakened the associations between direct admission and most factors in both AIS and AMI. Conclusions Various patient factors were differentially associated with direct admission to RCVCs between AIS and AMI. Public education for symptom awareness and use of EMS is essential in optimizing the transportation and hospitalization of patients with AMI and AIS.

Tinea faciei is a rare dermatophyte infection of the face that most often appears as a facial rash, followed by patches of small and raised bumps. Since it is uncommon in children and has similar rash patterns with various skin diseases, it is likely to be misdiagnosed as herpes simplex infection, contact dermatitis, disc-shaped lupus erythematosus, acne, and atopic dermatitis. In this case, siblings aged 3 and 4 were hospitalized due to skin rashes that occurred after traveling to Vietnam, and were administered antiviral drugs and systemic steroids under suspicion of herpes simplex infection with atopic dermatitis. Despite administration of these drugs, skin lesions did not show improvement. Serum beta-Dglucan assays were elevated in both patients, and after approximately 2 weeks, Trichophyton interdigitale was cultured in the older sister's skin fungal culture test. Both patients recovered after local and systemic antifungal therapy, without relapse or side effects. Skin lesions on the face, which do not respond to the existing treatment in children, should be checked for the possibility of tinea faciei through repeated fungal tests, and the beta-D-glucan assay can be a useful tool in diagnosing tinea faciei.

Tinea faciei is a rare dermatophyte infection of the face that most often appears as a facial rash, followed by patches of small and raised bumps. Since it is uncommon in children and has similar rash patterns with various skin diseases, it is likely to be misdiagnosed as herpes simplex infection, contact dermatitis, disc-shaped lupus erythematosus, acne, and atopic dermatitis. In this case, siblings aged 3 and 4 were hospitalized due to skin rashes that occurred after traveling to Vietnam, and were administered antiviral drugs and systemic steroids under suspicion of herpes simplex infection with atopic dermatitis. Despite administration of these drugs, skin lesions did not show improvement. Serum beta-Dglucan assays were elevated in both patients, and after approximately 2 weeks, Trichophyton interdigitale was cultured in the older sister's skin fungal culture test. Both patients recovered after local and systemic antifungal therapy, without relapse or side effects. Skin lesions on the face, which do not respond to the existing treatment in children, should be checked for the possibility of tinea faciei through repeated fungal tests, and the beta-D-glucan assay can be a useful tool in diagnosing tinea faciei.