Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients.

BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and atrophy. Delayed diagnosis can lead to loss of motoric functions, which may then progress to deformities such as thoracolumbar scoliosis, pelvic obliquity, and hip subluxation/dislocation. The lack of information or limited experience among healthcare providers and costly genetic tests can cause delayed diagnosis. The current study aimed to assess the characteristics of patients with SMA. Moreover, the association between SMA type and delayed diagnosis and the risk of spinal deformity in the Indonesian SMA Community was evaluated. METHODS: This was a cross-sectional study performed on 53 patients diagnosed with SMA. Data about patients' characteristics were obtained from the Indonesian SMA Community using a questionnaire in August 2019. The information included age, sex, SMA type, age at suspicion and definite diagnosis of SMA, and presence of spinal deformities. Then, descriptive analysis and logistic regression analysis were performed, and the Kruskal-Wallis test and the Chi-square test were utilized. RESULTS: The median age of patients suspected of SMA was 24 months. A definitive diagnosis of SMA was obtained at 36 months. Further, 43% of patients presented with SMA type 2 and 58% with spinal deformities. Results showed a positive correlation between time interval between suspicion and definite diagnosis of SMA and the risk of spinal deformities (B = 0,07; p > 0.05). Delayed diagnosis was more common in SMA type 3 than in SMA types 1 and 2, and SMA type 2 was correlated with a twofold risk of spinal deformities (p = 0.03; prevalence ratio = 2.09). CONCLUSIONS: SMA type 2 is associated with a twofold risk of spinal deformities. Delayed diagnosis is more common in SMA type 3 than in SMA types 1 and 2. Moreover, there was an association between the time interval between suspicion and definite diagnosis of SMA and the risk of spinal deformities in patients with SMA.

General rehabilitation for the Post-COVID-19 condition: A narrative review.

COVID-19 significantly impacts the acute phase or the period after being infected by severe acute respiratory syndrome coronavirus-2. Studies have shown it has affected multiorgan and needs continuous care by a multidisciplinary team. Nowadays, guidance is required to assist the recovery process of survivors who reported at least one symptom as a residual effect. This study aims to describe the rehabilitation management of post-COVID-19 conditions. As the number of survivors seems to be increasing, it is expected that COVID-19 survivors will recover through a holistic approach by all physicians. Comprehensive rehabilitation for long COVID or COVID-19-related illnesses includes exercising, nutrition, education, managing voice, breathlessness, neurocognitive problems, mental health, feeding problems, and daily activities. Specific recommendations have already been published to support rehabilitation for survivors in every targeted organ. Supportive care, especially rehabilitation programs, is recently an urgent knowledge in this pandemic.

Prediction for the maximum inspiratory pressure value from the thoracic expansion measurement in Indonesian healthy young adults.

Background: The diaphragm is the primary muscle responsible for breathing. Weakness in the diaphragm will result in breathing difficulties. The micro-RPM (respiratory pressure meter) is a non-invasive testing device to measure respiratory muscle strength, which is not always feasible, while thoracic expansion measurements are easy to do. Aim: This study constructs a prediction formula for a maximal inspiratory pressure (MIP) value from thoracic expansion measurements. Methods: This study was quantitative with a cross-sectional design. Participants were healthy adults aged 20-40 years, with normal Mini-Mental State Examinations, body mass index, spirometry, and moderate activity levels. The tests performed were MIP and thoracic expansion measurements at three levels: axilla (L1), the fourth intercostal space (L2), and at processus xiphoideus (L3). The data were analyzed using an unpaired t-test and multivariate. Results: The mean MIP for males (81.51 ± 13.90 cmH2O) was significantly greater than females (63.17 ± 15.89 cmH2O) (P = 0.0001). These findings were not different with the Chinese, Indian, Mangalorean, and Malaysian populations because they are all of Asian ethnicity. Thoracic expansion L2 (r = 0.463, P = 0.0001) and L3 (r = 0.502, P = 0.0001) were moderately correlated with MIP, whereas thoracic expansion L2, L3 combined with gender had a weak effect on MIP. The prediction formula was: MIP = 56.802 + 2.387 + L2 + 13.904 + Gender * and MIP = 53.289+ 3.561 + L3 + 9.504 + Gender *, * 0 = female; 1 = male. Conclusions: A prediction formula for MIP can be made using the thoracic expansion variable with gender as a determinant factor. A quick and easy measurement of thoracic expansion can be used as a mean of screening respiratory muscle strength in patient care.