Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.
Diagnosis ; Genetic Counseling ; Genetic Heterogeneity ; Genetic Testing ; Humans ; Molecular Biology ; Molecular Diagnostic Techniques ; Neuromuscular Diseases ; Pediatrics ; Phenotype

PURPOSE: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. METHODS: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. RESULTS: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. CONCLUSION: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.
Caregivers ; Classification* ; Diagnosis ; Humans ; Infant* ; Muscle Hypotonia ; Muscular Atrophy, Spinal ; Myotonic Dystrophy ; Peripheral Nervous System ; Prader-Willi Syndrome ; Prognosis ; Quality of Life ; Retrospective Studies

Upbeat nystagmus has been described in bilateral lesions of the medulla, the ventral tegmentum, the anterior cerebellar vermis, the adjacent brachium conjunctivum, and the midbrain. Imbalance of the vertical vestibulo- ocular reflex (VOR) favoring the downward VOR activity would therefore result in upbeat nystagmus. We report a patient with transient upbeat nystagmus due to unilateral pontine infarction that may have disrupted bilateral upward VOR pathways running in the ventral tegmental tracts.
Humans ; Infarction* ; Mesencephalon ; Reflex ; Running

When performing septoplasty in patients with a high deviation of the nasal septum, effective correction is difficult and postoperative complications such as a saddle nose may result if the bone or cartilage is removed inordinately. Although several surgical techniques have been introduced, some are difficult to apply easily. Furthermore, the deviation may persist despite the application of surgical techniques due to the rebound memory of the remaining cartilage. This study aimed to describe a simple and safe surgical technique for crooked nasal septa with a high deviation. This method using horizontal dorsal septal incision allows easy separation of the highly deviated portion from the upper lateral cartilage. Furthermore, it is less traumatic than other methods, and predictably preserves the keystone area.

PURPOSE: This study was conducted in order to develop morning bread using powdered citrus peels and to examine the effect of its several biological activities for 12 weeks in overweight adults (BMI ≧ 23) living in dormitories of Chonbuk National University. METHODS: Control bread was prepared using the same formula except for replacing the wheat flour with 3% citrus peel powder. Subjects were classified according to two groups: Intake group of 3% citrus peel powder fortified morning bread (n = 30) and general morning bread (n = 30). RESULTS: The results of our study showed no significant effects of citrus peel powdered morning bread on anthropometric indices and biochemical characteristics among overweight adults. Despite the slight reduction in total-cholesterol, LDL-cholesterol, GOT, and GPT (p < 0.05), no significant differences in changes of these values were observed between the two groups. CONCLUSION: The short duration of our intervention might have resulted in the lack of any significant effect. Therefore, conduct of further studies with longer duration is warranted in order that the results from this study can be utilized as a basis for the development of food products with citrus peel powder.
Adult ; Bread* ; Breakfast ; Citrus* ; Coronary Artery Disease ; Flour ; Humans* ; Jeollabuk-do ; Overweight ; Powders* ; Triticum

This study was performed to investigate the effect of gastric banding surgery on the improvement of glycated hemoglobin (HbA(1c)) of morbidly obese (MO) patients with type 2 diabetes mellitus (T2DM) with the consideration that obesity was associated with insulin resistance and T2DM. We retrospectively reviewed the medical records of 38 MO with T2DM patients and 50 MO patients. Pre-surgery and post-surgery data were analyzed a year later. The medical data from these patients, including sex, age, height, weight, body composition, HbA(1c), triglyceride, total cholesterol, aspartate transaminase (AST), and alanine transaminase (ALT) were measured. There were significant reductions of body weight and body mass index (BMI), body fat, body fat percentage, waist-hip ratio, visceral fat, and obesity in each group before and after gastric banding surgery. Results of AST, ALT, and HbA(1c) had significant reductions in each group. For HbA(1c), treatment rate was 71% in the MO group with T2DM with significant reduction of 22.8%. It is thought that a gastric banding surgery is one of the breakthrough methods not only for weight loss but also for the prevention of complication of the obese patients with T2DM. Thus, gastric banding surgery could be effective in controlling HbA(1c) in obese patients with type 2 diabetes mellitus.
Adipose Tissue ; Alanine Transaminase ; Aspartate Aminotransferases ; Body Mass Index ; Body Weight ; Cholesterol ; Diabetes Mellitus, Type 2* ; Hemoglobin A, Glycosylated ; Humans ; Insulin Resistance ; Intra-Abdominal Fat ; Medical Records ; Obesity ; Retrospective Studies ; Triglycerides ; Waist-Hip Ratio ; Weight Loss

Traditionally, pathologists microscopically examine tissue sections to detect pathological lesions; the many slides that must be evaluated impose severe work burdens. Also, diagnostic accuracy varies by pathologist training and experience; better diagnostic tools are required. Given the rapid development of computer vision, automated deep learning is now used to classify microscopic images, including medical images. Here, we used a Inception-v3 deep learning model to detect mouse lung metastatic tumors via whole slide imaging (WSI); we cropped the images to 151 by 151 pixels. The images were divided into training (53.8%) and test (46.2%) sets (21,017 and 18,016 images, respectively). When images from lung tissue containing tumor tissues were evaluated, the model accuracy was 98.76%. When images from normal lung tissue were evaluated, the model accuracy (“no tumor”) was 99.87%. Thus, the deep learning model distinguished metastatic lesions from normal lung tissue. Our approach will allow the rapid and accurate analysis of various tissues.

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

BACKGROUND/OBJECTIVES: The prevalence of morbid obesity in Korean women has consistently been increasing, while the overall prevalence rate of obesity in Korean women seems to be stable. In addition to bariatric surgery, intragastric balloons (IGBs), as a nonsurgical therapy, have been reported to be effective in weight loss. However, the beneficial effects of IGB in Korean women with obesity have not been fully investigated. The aim of this study was to evaluate the changes in fat mass in Korean women with obesity who had undergone IGB treatment for 6 mon. SUBJECTS/METHODS: Seventy-four women with obesity (body mass index [BMI] ≥ 25.0 kg/m 2 ) were recruited. Clinical data, including general information, comorbidities with obesity, anthropometric data, and changes in the body fat composition before and after IGB treatment, were obtained from the subjects. RESULTS: Most subjects had one or more comorbidities, such as osteoarthropathy and woman's disease, and had poor eating behaviors, including irregular mealtimes, eating quickly, and frequent overeating. Body composition measurements showed that weight, fat mass, and waist-hip circumference ratio decreased significantly at 6 mon after IGB treatment.In particular, women with morbid obesity (BMI ≥ 30 kg/m 2 ) showed 33% excess weight loss.There was no significant difference in skeletal muscle mass and mineral contents after IGB treatment. CONCLUSIONS This study suggested that 6 mon of IGB treatment can be a beneficial treatment for obesity without muscle mass and bone mineral loss.

BACKGROUND/OBJECTIVES: The prevalence of morbid obesity in Korean women has consistently been increasing, while the overall prevalence rate of obesity in Korean women seems to be stable. In addition to bariatric surgery, intragastric balloons (IGBs), as a nonsurgical therapy, have been reported to be effective in weight loss. However, the beneficial effects of IGB in Korean women with obesity have not been fully investigated. The aim of this study was to evaluate the changes in fat mass in Korean women with obesity who had undergone IGB treatment for 6 mon. SUBJECTS/METHODS: Seventy-four women with obesity (body mass index [BMI] ≥ 25.0 kg/m 2 ) were recruited. Clinical data, including general information, comorbidities with obesity, anthropometric data, and changes in the body fat composition before and after IGB treatment, were obtained from the subjects. RESULTS: Most subjects had one or more comorbidities, such as osteoarthropathy and woman's disease, and had poor eating behaviors, including irregular mealtimes, eating quickly, and frequent overeating. Body composition measurements showed that weight, fat mass, and waist-hip circumference ratio decreased significantly at 6 mon after IGB treatment.In particular, women with morbid obesity (BMI ≥ 30 kg/m 2 ) showed 33% excess weight loss.There was no significant difference in skeletal muscle mass and mineral contents after IGB treatment. CONCLUSIONS This study suggested that 6 mon of IGB treatment can be a beneficial treatment for obesity without muscle mass and bone mineral loss.