Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.

BACKGROUND: Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies. Mutation of the lamin A/C (LMNA) gene, which causes EDMD, also causes many other diseases. There is inter and intrafamilial variability in clinical presentations. Precise diagnosis can help in patient surveillance, especially before they present with cardiac problems. Hence, this paper shows how a molecular work-out by next-generation sequencing can help this group of disorders. CASE PRESENTATION: A 2-year-10-month-old Javanese boy presented to our clinic with weakness in lower limbs and difficulty climbing stairs. The clinical features of the boy were Gower's sign, waddling gait and high CK level. His father presented with elbow contractures and heels, toe walking and weakness of limbs, pelvic, and peroneus muscles. Exome sequencing on this patient detected a pathogenic variant in the LMNA gene (NM_170707: c.C1357T: NP_733821: p.Arg453Trp) that has been reported to cause Autosomal Dominant Emery-Dreifuss muscular dystrophy. Further examination showed total atrioventricular block and atrial fibrillation in the father. CONCLUSION: EDMD is a rare disabling muscular disease that poses a diagnostic challenge. Family history work-up and thorough neuromuscular physical examinations are needed. Early diagnosis is essential to recognize orthopaedic and cardiac complications, improving the clinical management and prognosis of the disease. Exome sequencing could successfully determine pathogenic variants to provide a conclusive diagnosis.

The physiological effect of prone positioning and lateral decubitus in non-intubated patients with severe COVID-19: a prospective cohort study.

Introduction: Prone positioning is one type of postural lung recruitment manoeuvre that has been widely studied regarding the benefits and physiological changes of the cardiorespiratory system. However, prone positioning is not very comfortable for the patients because they have to lie on their stomachs for a while when the oxygen therapy and other monitoring devices are still attached. Based on patient observations, some patients will change to more comfortable positions, namely using the right/left lateral decubitus position. The purpose of this research was to examine the physiological impact of prone and lateral decubitus position in non-intubated patients who were diagnosed with severe COVID-19. Methods: It was a prospective cohort study in subsequent people with severe COVID-19 who obtained a non-rebreathing mask or high-flow nasal cannula at a University Hospital between 1 June and 10 September 2021. The study lasted for a total of 2021 days and involved 48 patients. The patients assumed the prone positioning or lateral decubitus every morning and afternoon for 4 h and were measured for cardiorespiratory parameters and blood gas analysis. It has been reported in line with the STROCSS criteria. Results: Dynamic changes based on cardiorespiratory parameters and blood gas analysis parameters in patients with prone and lateral decubitus position in patients with severe COVID-19 receiving conventional oxygen therapy (via non-rebreathing mask) or high-flow nasal cannula did not show any significant difference. Conclusion: The physiological effect of prone positioning and lateral decubitus in non-intubated patients with severe COVID-19 are similar. Accordingly, lateral decubitus can be an alternative for postural lung recruitment manoeuvres and warrants further randomized trials.

Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting.

BACKGROUND: Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory failure is the main cause of morbidity and mortality in DMD patients. Respiratory devices have been reported to increase the effectiveness of cough and pulmonary function, thus prolong the survival rate. However, there is scarcity of studies about DMD patients' respiratory profiles and usage of respiratory devices in Indonesia. METHODS: We recruited 8 Indonesian DMD patients in Dr. Sardjito Hospital and UGM Academic Hospital, Yogyakarta. Baseline pulmonary function was measured using spirometry. Peak Cough Flow was measured at baseline, with chest compression, after air stacking with manual ventilation bag, and with the combined techniques. Data recorded was presented as mean ± SD and analysed using ANOVA. RESULTS: Here we show the respiratory profiles from 8 non-ambulatory DMD patients (mean age: 13.25 ± 3.96 years old) confirmed by genetic testing. None of them had access to respiratory devices. Spirometry measurements showed 7 of 8 patients had severe restrictive pulmonary function with mean FEV1/FVC 22.40 ± 10.30% of predictive values (normal ratio > 70%). In addition, all patients showed poor cough performances measured by peak cough flowmeter (160 ± 44.58 L/min (normal value > 270 L/min)) that were improved by air stacking using a manual ventilation bag (167.4 ± 46.72 L/min). Three patients who had nocturnal hypoventilation did not have daytime hypercapnia. Manual ventilation bag or mechanical in-/ex-sufflation was indicated in 75% of patients while nocturnal assisted ventilation was indicated in 50% of patients. Neither daytime assisted ventilation nor tracheostomy was indicated in these patients. CONCLUSION: Use of manual exsufflation in combination with the manual ventilation bag for air stacking to improve cough performance is recommended as the first step of respiratory management in DMD patients. Provision of manual ventilation bag serve as an affordable and effective device for respiratory support in the early stage of respiratory involvement in those non-ambulatory patients with DMD.

Rehabilitation for Cancer Survivors: How We Can Reduce the Healthcare Service Inequality in Low- and Middle-Income Countries.

Cancer diagnosis often substantially affects patient's physical, psychological, and emotional status. Most patients with cancer experience declining of energy, activity levels, social-cultural participation, and relationships. In addition, cancer progression and adverse effects of aggressive cancer treatment often cause debilitating pain, fatigue, weakness, joint stiffness, depression, emotional instability, limited mobility, poor nutritional status, skin breakdown, bowel dysfunction, swallowing difficulty, and lymphedema leading into functional impairment and disability that can be addressed through rehabilitation care. Comprehensive care models by involving cancer rehabilitation have resulted in significant improvement of patient's quality of life. Although cancer rehabilitation has been implemented in many high-income countries, it is either not yet or suboptimally delivered in most low- and middle-income countries. In this review, we discussed gaps regarding cancer rehabilitation services and identified opportunities to improve quality of cancer care in developing countries. Future collaborations among international organizations and stakeholders of health care delivery systems are required to initiate and improve high-quality cancer rehabilitation in the developing countries.