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We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles (biceps femoris, adductor magnus, gastrocnemius, and soleus) was preferentially affected as was the paraspinal muscle. Muscles in the anterior compartment of the thigh were affected in more advanced stages. Both patients had symptomatic atrioventricular block. The POPDC1 protein was undetectable in the muscles of the patients. As observed by transmission electron microscopy, one of the patient samples had fewer caveolae along the sarcolemma than a control sample.

Histopathologic evaluation of muscle biopsy samples is essential for classifying and diagnosing muscle diseases. However, the numbers of experienced specialists and pathologists are limited. Although new technologies such as artificial intelligence are expected to improve medical reach, their use with rare diseases, such as muscle diseases, is challenging because of the limited availability of training datasets. To address this gap, we developed an algorithm based on deep convolutional neural networks (CNNs) and collected 4041 microscopic images of 1400 hematoxylin-and-eosin-stained pathology slides stored in the National Center of Neurology and Psychiatry for training CNNs. Our trained algorithm differentiated idiopathic inflammatory myopathies (mostly treatable) from hereditary muscle diseases (mostly non-treatable) with an area under the curve (AUC) of 0.996 and achieved better sensitivity and specificity than the diagnoses done by nine physicians under limited diseases and conditions. Furthermore, it successfully and accurately classified four subtypes of the idiopathic inflammatory myopathies with an average AUC of 0.958 and classified seven subtypes of hereditary muscle disease with an average AUC of 0.936. We also established a method to validate the similarity between the predictions made by the algorithm and the seven physicians using visualization technology and clarified the validity of the predictions. These results support the reliability of the algorithm and suggest that our algorithm has the potential to be used straightforwardly in a clinical setting. The authors developed a deep convolutional neural network-based algorithm to support pathological muscle diagnosis. The algorithm differentiated idiopathic inflammatory myopathies and outperformed nine human physicians under limited diseases and conditions. These results suggest that the algorithm has the potential to be used directly in clinical settings.

To understand quality of life (QoL) perceptions of people with epilepsy (PWE) through knowledge, attitude, and behavior (KAB); PWE; their families (PWEf); and the general population (GPop).This descriptive study was conducted in Jakarta and its surrounding cities from January to December 2019. PWE were recruited from outpatient clinics. PWEf were caregivers who lived with PWE. GPop were age matched, randomly selected, and interviewed for public events. The perception of QoL was scaled from 1 to 5 (1 =very poor to 5 =very good). KAB was obtained from open- and closed-ended questionnaires, scaled from 1 to 5 (1 =strongly disagree to 5 =strongly agree). The differences in each group were analyzed using t-tests and analysis of variance.We interviewed 371 participants, predominantly female and senior high school graduates. Unemployment and singlehood were higher in PWEs. QoL perception in PWE was similar to GPop (3.01 [0.75] vs. 3.07 [0.76], p = 0.49), yet lower in PWEf (2.78 [0.76]; p 0.05). According to PWE and PWEf, not being stigmatized and support from family were essential, while GPop emphasized the medical perspective. Overall, the knowledge section had the lowest score and behavior had the highest. The GPop was uncertain about the cause of epilepsy in K2 (3.73 [1.05]), K4 (3.35 [1.24]), and K7 (2.93 [1.08]); p 0.001. Despite positive behavior, GPop were unwilling to marry (B4) nor had PWE as their in-laws (B5); (2.83 [0.73] and 2.78 [0.77]; p 0.001). Moreover, PWEf were still doubtful about GPop's acceptance (B1) (3.86 [0.38] vs 4.00 [0.40]; p 0.05).The perception of QoL in PWE did not seem to be directly associated with KAB. Despite similar knowledge of PWE and PWEf, better perceptions came from PWE and GPop. The reluctance to form deeper bonds between GPop and PWE, along with PWEf's skepticism, could lead to low self-esteem, unemployment, and unmarried rates. Further studies are required to elaborate on these issues.

Histopathologic evaluation is essential for categorizing and studying neuromuscular disorders. However, experienced specialists and pathologists are limited, especially in underserved areas. Although new technologies, such as artificial intelligence, are expected to improve medical reach, their use in rare diseases is challenging because of the limited availability of training datasets. To address this knowledge gap, we developed an algorithm based on deep convolutional neural networks that used data from microscopic images of hematoxylin-and-eosin-stained pathology slides. Our algorithm differentiated idiopathic inflammatory myopathies (mostly treatable) from hereditary muscle diseases (mostly non-treatable) and achieved better sensitivity and specificity than real physicians' diagnoses. Furthermore, it successfully and accurately classified four subtypes of the abovementioned muscular conditions. These results suggest that our algorithm can be safely used in a clinical setting. We established the similarity between the algorithm's and physicians' predictions using visualization technology, and clarified the validity of the predictions.

Pendahuluan: Miastenia gravis (MG) merupakan penyakit autoimun kronik pada taut neuromuskular dengan gejala kelemahan fluktuatif. Kemajuan dalam diagnosis dan tatalaksana kasus MG akan meningkatkan angka harapan hidup pasien, sehingga evaluasi keberhasilan terapi tidak lagi hanya didasarkan pada mengatasi gejala, namun juga dalam mengevaluasi kualitas hidup pasien. The 15-item Myasthenia Gravis Quality of Life scale (MG-QOL15) merupakan kuesioner yang digunakan saat ini untuk mengevaluasi kualitas hidup pada pasien MG. Tujuan: Mendapatkan instrumen MG-QOL15 versi bahasa Indonesia yang valid dan reliabel. Metode: Empat puluh empat pasien penyakit MG di Poliklinik Neurologi Rumah Sakit Cipto Mangunkusumo yang memenuhi kriteria inklusi diikutsertakan dalam penelitian potong lintang ini. Pasien mengisi kuesioner MG-QOL15 sebanyak 2 kali dengan jarak waktu 2 hari. Konsep yang digunakan untuk uji validitas MG-QOL15 INA adalah validasi lintas budaya menurut metode World Health Organization (WHO). Uji reliabilitas dinilai menggunakan nilai alfa Cronbach. Hasil: MG-QOL15 INA telah melalui validasi lintas budaya menurut WHO dengan nilai koefisien korelasi Spearman berkisar antara 0,568-0,789 pada pemeriksaan pertama dan 0,574-0,763 pada retest. Nilai alfa Cronbach pada pemeriksaan pertama 0,917 dan 0,909 untuk re-test. Diskusi: MG-QOL15 INA valid dan reliabel untuk digunakan sebagai instrumen evaluasi kualitas hidup pasien MG. Kata Kunci: MG-QOL15, Miastenia gravis, kualitas hidup

A 42-year-old man with a history of two previous coronary embolisms was referred to our hospital. He had been experiencing muscle weakness since he was around 40 years old. He had muscle atrophy of the scapula, upper arm, and lower extremities, and electromyography revealed myogenic changes in the limb muscles. Histopathological analysis of the muscle biopsy specimen revealed a complete deficiency of emerin protein, and genetic examination revealed a mutation in the emerin (EMD) gene, resulting in a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is a muscular disorder with three symptoms: joint contracture at early onset, muscle weakness and atrophy, and cardiac dysfunction. Although this patient showed no obvious joint contracture, the course and clinical symptoms vary among patients. Therefore, in patients in whom clinical diagnosis is difficult, muscle biopsy and genetic testing should be performed for EDMD in order to prevent sudden death due to this disease.

Background: Nonconvulsive status epilepticus (NCSE) is often underdiagnosed in patients with metabolic encephalopathy (ME). The diagnosis of ME should be made specifically to recognize the underlying etiology. Delay in seizure identification and making a diagnosis of NCSE contributed to the poor outcome. Objective: This study aimed to find the incidence and outcome of NCSE in patients with ME. Methods and Material: This was an observational prospective cross-sectional study in patients with ME in emergency and critical care units in Cipto Mangunkusumo General Hospital. The diagnosis of NCSE was based on EEG using Salzburg Criteria for Nonconvulsive Status Epilepticus (SCNC). The outcome was assessed within 30 days after the NCSE diagnosis has been made. Results: A total of 50 patients with ME were involved in this study. NCSE was confirmed in 32 subjects (64%). The most common etiology of ME was sepsis (58%). The mortality rate in the NCSE and non-NCSE group was 40.6% vs 44.4%. Multiple aetiologies were risk factors to poor outcome in the NCSE group. Conclusions: The incidence of NCSE among patients with ME at our hospital was high. Despite the anti-epileptic treatment of the NCSE group, the underlying cause of ME is still the main factor that affected the outcome. Therefore, aggressive treatment of anti-epileptic drug (AED) should be very carefully considered knowing the possible side-effect that might worsen the outcome of patients with ME.

Introduction Erasmus GBS Outcome Score (EGOS) is a model to predict the outcome of patients after GBS. EGOS studies were conducted in well developed countries, which have different patient characteristics and medical facility than in the middle-income country like Indonesia. In the middle-income country, the prognosis could be different because of limited medical facility and the lack of patient’s awareness. Methods This is a retrospective study of GBS patients who was admitted to Cipto Mangunkusumo Hospital (CMH) from 2010 to 2015. We reviewed demographic and clinical characteristics, EGOS, and the outcome of GBS patients. Results GBS patient who was admitted to CMH were 11.6 cases/year. There was no seasonal variation of GBS onset. Male-to-female ratio was 1.2: 1. Mean age of patients was 41.7 years old. The most frequent variant of GBS was AIDP (37.5%), followed by AMSAN (25%), AMAN (25%) and MFS (12.5%). Median duration of onset – to hospital was 8.5 days. In 83.3% patients the first plasma exchange was started at more than two weeks after the onset. Proportion of patients with good outcome was 74.4%. Higher EGOS tend to have higher proportion of patients with poor outcome. Conclusion This study shows EGOS can be applied at middle income country with limited resources and still have good trend to predict the outcome of the GBS even if the immunotherapy was started more than two weeks after the onset.