The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

The validity and reliability of a new scale to measure patient-determined communication barriers in hospitals

Objective: Creating an environment that boosts effective communication between patients and healthcare personnel, and identifying factors that impair good communication, have favorable results on the quality of healthcare services. The primary goal of this study was to develop a new valid and reliable scale that could be used to identify communication barriers at the patient level. Method: The study was conducted with 421 patients receiving healthcare services at Gaziantep University Şahinbey Research and Practice Hospital. The respondents varied in age, gender, education level and by the department to which they were admitted. Descriptive statistics, exploratory factor analysis, confirmatory factor analysis and Cronbach’s alpha test were utilized. Results: Based on the analysis of the data collected, a new valid and reliable scale (Cronbach’s alpha= 0.81) was constructed, consisting of 28 items and 7 sub-dimensions. Conclusion: The proposed scale showed that the main factors leading to the creation of communication barriers were waiting times, fear and anxiety experienced by the patients, security staff, patients’ need for attention, lack of trust towards healthcare personnel, concern and need for being informed and prejudice. Key words: Health communication, communication barriers, patients, healthcare personnel, hospitals </p

Ocular Problems in Triple-A Syndrome and Their Management

Triple-A syndrome (Allgrove syndrome), is a rare autosomal recessive syndrome that is characterized by adrenal insufficiency, alacrimia and achalasia. In this report, we present a case of triple-A syndrome and discuss the ocular manifestations of the diseases along with evaluation of the therapeutic options. In addition to the classic triad of triple-A syndrome, our patient had intermittent exotropia. The patient was receiving oral steroids for adrenal insufficiency and artificial tear drops for eye dryness. Surgery was planned for exotropia. Punctum plug insertion was made simultaneously with bilateral lateral rectus recessions. Postoperative follow-up revealed near and distant horizontal deviation at the interval of ±10 PD. The patient’s complaints about eyes regressed significantly as well. Triple-A syndrome is a life threatening and rare disorder that could be fatal when undiagnosed. Punctum plugs are convenient therapy option for the treatment of xerophthalmia encountered in triple-A syndrome. With strabismus surgery including punctum plug insertion, any other surgery can be simultaneously carried out during a single session of general anesthesia. (Turk J Ophthalmol 2012; 42: 492-4

Covid-19 in liver transplant recipients: A national cohort

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Outcomes following deceased and live donor liver transplantation for the indication of acute liver failure: A multicenter experience

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