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Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein, we describe a patient with early-onset epilepsy who subsequently developed a progressive neurological phenotype including parkinsonism in her early teens. A de novo mutation in STXBP1 (c.416C>T, p.(Pro139Leu)) was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings implicate a secondary impairment of mitochondrial function in the progressive nature of the disease phenotype.
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Complejo I de Transporte de Electrón/deficiencia , Epilepsia/genética , Enfermedades Mitocondriales/genética , Proteínas Munc18/genética , Mutación Missense , Trastornos Parkinsonianos/genética , Encéfalo/fisiopatología , Niño , Progresión de la Enfermedad , Electroencefalografía , Complejo I de Transporte de Electrón/genética , Epilepsia/complicaciones , Exoma , Femenino , Humanos , Enfermedades Mitocondriales/complicaciones , Trastornos Parkinsonianos/complicaciones , FenotipoRESUMEN
BACKGROUND: Sports have been a fundamental component of any culture and legacy for centuries. Athletes are widely regarded as a source of national pride, and their physical well-being is deemed to be of paramount significance. The attainment of optimal performance and injury prevention in athletes is contingent upon physical fitness. Technology integration has implemented Cyber-Physical Systems (CPS) to augment the athletic training milieu. OBJECTIVE: The present study introduces an approach for assessing athlete physical fitness in training environments: the Internet of Things (IoT) and CPS-based Physical Fitness Evaluation Method (IoT-CPS-PFEM). METHODS: The IoT-CPS-PFEM employs a range of IoT-connected sensors and devices to observe and assess the physical fitness of athletes. The proposed methodology gathers information on diverse fitness parameters, including heart rate, body temperature, and oxygen saturation. It employs machine learning algorithms to scrutinize and furnish feedback on the athlete's physical fitness status. RESULTS: The simulation findings illustrate the efficacy of the proposed IoT-CPS-PFEM in identifying the physical fitness levels of athletes, with an average precision of 93%. The method under consideration aims to tackle the existing obstacles of conventional physical fitness assessment techniques, including imprecisions, time lags, and manual data-gathering requirements. The approach of IoT-CPS-PFEM provides the benefits of real-time monitoring, precision, and automation, thereby enhancing an athlete's physical fitness and overall performance to a considerable extent. CONCLUSION: The research findings suggest that the implementation of IoT-CPS-PFEM can significantly impact the physical fitness of athletes and enhance the performance of the Indian sports industry in global competitions.
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Atletas , Aptitud Física , Humanos , Aptitud Física/fisiología , Internet de las Cosas , Frecuencia Cardíaca/fisiología , Aprendizaje Automático , Temperatura Corporal/fisiologíaRESUMEN
BACKGROUND: This study investigated the impact of the High Intensity Interval Resistance Training (HIIRT) protocol on hormonal changes in older women. RESEARCH DESIGN AND METHODS: Forty sarcopenic women were divided into an experimental group (EX = 30) and a control group (C = 10). The EX-group was further divided into Maintenance Training 1 (MT1 = 10), Maintenance Training 2 (MT2 = 10), and Detraining (DT = 10). The participants underwent 8 weeks of resistance training, consisting of hypertrophy and strength cycles. Following this, the EX-group had a 4-week period with no exercise or a reduced training volume. Measurements were taken at three time points. RESULTS: After 8 weeks, the EX-group showed significant improvements in Insulin Like Growth Factor-1 (IGF-1), Myostatin (MSTN), Follistatin (Fstn), Growth Hormone (GH) and Cortisol (Cort) compared to the control group. During the volume reduction period, there were no significant differences between MT1 and MT2 groups, but both groups saw increases in IGF-1, Fstn, GH, and decreases in MSTN and Cort compared to the DT group. CONCLUSIONS: These findings suggest that performing at least one training session per week with the HIIRT protocol is crucial for maintaining hormonal adaptations in sarcopenic older women.
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Hormona de Crecimiento Humana , Entrenamiento de Fuerza , Sarcopenia , Humanos , Femenino , Anciano , Factor I del Crecimiento Similar a la Insulina , Entrenamiento de Fuerza/métodos , HidrocortisonaRESUMEN
T2DM is known to cause disturbances in glucose homeostasis and negative changes in the heart muscle, while aging and diabetes are recognized risk factors for CVD. Given this, our study aims to investigate a method for controlling and managing CVDs induced by T2DM in elderly populations. To achieve this, we categorized 40 rats into 5 groups, including HAD (n = 8), HA (n = 8), AD (n = 8), AHT (n = 8), and ADT (n = 8). The exercise protocol consisted of eight weeks of HIIT (three sessions per week) performed at 90-95% of maximal speed. Following cardiac tissue extraction, we assessed the levels of IGF-1, PI3K, and AKT proteins using Western blot technique, and analyzed the histopathological variations of the heart tissue using H&E, Sudan Black, and Masson's trichrome tissue staining. The histological findings from our study demonstrated that T2DM had a significant impact on the development of pathological hypertrophy and fibrosis in the heart tissue of elderly individuals. However, HIIT not only effectively controlled pathological hypertrophy and fibrosis, but also induced physiological hypertrophy in the AHT and ADT groups compared to the HA and AD groups. Results from Sudan Black staining indicated that there was an increase in lipid droplet accumulation in the cytoplasm of cardiomyocytes and their nuclei in the HA and AD groups, while the accumulation of lipid droplets decreased significantly in the AHT and ADT groups. In both the AHT group and the ADT group, a single HIIT session led to a reduction in collagen fiber accumulation and fibrotic frameworks. Our research also revealed that diabetes caused a significant elevation in the levels of IGF-1, PI3K, and AKT proteins, but after eight weeks of HIIT, the levels of these proteins decreased significantly in the training groups. Overall, our findings suggest that HIIT may be a suitable non-pharmacological approach for improving histological and physiological changes in elderly individuals with T2DM. However, we recommend further research to examine the impact of HIIT training on both healthy and diseased elderly populations.
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Enfermedades Cardiovasculares , Diabetes Mellitus Tipo 2 , Entrenamiento de Intervalos de Alta Intensidad , Humanos , Ratas , Animales , Anciano , Factor I del Crecimiento Similar a la Insulina , Entrenamiento de Intervalos de Alta Intensidad/métodos , Proteínas Proto-Oncogénicas c-akt , Miocitos Cardíacos , Apoptosis , Fibrosis , Hipertrofia , Fosfatidilinositol 3-QuinasasRESUMEN
Paresis of the upper and lower limbs is a typical issue in stroke survivors. This study aims to determine whether core exercises help stroke survivors with very severe motor impairment recover their motor function. This study employed a within-subjects design. Eleven hemiparetic stroke patients with very severe motor impairment (FMA score < 35) and ages ranging from 24 to 52 years old were enrolled in this study. All participants engaged in supervised core exercise training twice a week for 12 weeks. The main outcome measures were Fugl-Meyer Assessment Lower Extremity (FMA-LE) and Fugl-Meyer Assessment Upper Extremity (FMA-UE), which were measured before training and at intervals of four weeks during training. Repeated measures ANOVA was used to analyze the effect of core exercises on motor function performance and lower extremity motor function and upper extremity motor function recovery. There were significant differences in the mean scores for motor function performance, lower extremity motor function, and upper extremity motor function throughout the four time points. A post-hoc pairwise comparison using the Bonferroni correction revealed that mean scores significantly increased and were statistically different between the initial assessment and follow-up assessments four, eight, and twelve weeks later. This study suggests that 12 weeks of core exercise training is effective for improving motor function recovery in patients with very severe motor impairment.
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Background: Type 2 diabetes is one of the most common metabolic diseases in recent years and has become an important risk factor for cardiovascular disorders. The first goal is to reduce type 2 diabetes, and in the case of cardiovascular disease, the second goal is to reduce and manage that disorder. Materials and methods: The rats were divided into 4 groups: Healthy Control (n=8), Diabetes Control (n=8), Diabetes Training (n=8), and Healthy Training (n=8). The protocol consisted of 8 weeks of High-intensity interval (5 sessions per week), where the training started with 80% of the peak speed in the first week, and 10% was added to this speed every week. To measure the level of B-catenin, c-MYC, GSK3B, and Bcl-2 proteins using the western blot method, cardiac pathological changes were measured using hematoxylin and eosin staining, Masson's trichrome and PAS staining and apoptosis using the TUNEL method. Findings: Histological results showed that diabetes causes significant pathological hypertrophy, fibrosis, and severe apoptosis in heart tissue. HIIT training significantly reduced pathological hypertrophy and fibrosis in heart tissue, and the rate of cardiomyocyte apoptosis was greatly reduced. This research showed that diabetes disorder increases the levels of B-catenin and c-Myc proteins and causes a decrease in the expression of GSK3B and Bcl-2 proteins. After eight weeks of HIIT training, the levels of B-catenin and c-Myc proteins decreased significantly, and the levels of GSK3B and Bcl-2 proteins increased. Conclusion: This study showed that HIIT could be a suitable strategy to reduce cardiomyopathy in type 2 diabetic rats. However, it is suggested that in future studies, researchers should perform different intensities and exercises to promote exercise goals in type 2 diabetic cardiomyopathy.
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Enfermedades Cardiovasculares , Diabetes Mellitus Experimental , Diabetes Mellitus Tipo 2 , Entrenamiento de Intervalos de Alta Intensidad , Ratas , Animales , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/terapia , Diabetes Mellitus Experimental/terapia , Proteínas Proto-Oncogénicas c-myc , Fibrosis , Hipertrofia , Proteínas Proto-Oncogénicas c-bcl-2RESUMEN
Knee osteoarthritis (OA) is a chronic joint disease that can affect all ages, but it is more common in the elderly. Pharmacological and non-pharmacological treatments have been invented evolutionarily over the years to halt this disease. Exercise is one of the first-line treatments for knee OA as well as for prevention. This case study features a 47-year-old man who has grade IV bilateral knee OA and has never had any surgery and takes fish oil daily as a supplement. His walking pattern was significantly impacted by the chronic knee discomfort he had in both legs. Thus, the walking gait of this patient was analyzed together with core muscle activation before and after two weeks of core resistance exercise intervention. The knee pain score was assessed using the Western Ontario and McMaster Universities Index (WOMAC). The outcomes of this research depict that core resistance training has the potential to be used as an alternative, non-surgical and non-pharmacological treatment for a patient with knee OA.
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BACKGROUND: Home-based exercise (HBE) and patient education (EDU) have been reported as beneficial additions to usual knee osteoarthritis (KOA) rehabilitation. However, previous trials mostly examined the effects of HBE and EDU separately. Thus, this study aimed to evaluate the effects of a structured combined HBE and EDU program in addition to usual KOA rehabilitation on pain score, functional mobility, and disability level. STUDY DESIGN: A parallel-group, single-blinded randomized controlled trial. METHODS: Eighty adults with KOA were randomly allocated to experimental (n=40) and control (n=40) groups. All participants underwent their usual physiotherapy care weekly for eight weeks. The experimental group received a structured HBE+EDU program to their usual care, while the control group performed home stretching exercises to equate treatment time. The Knee Injury and Osteoarthritis Outcome Score (KOOS) for the disability level, visual analogue scale (VAS) for pain, and timed up-and-go test (TUG) for mobility were measured pre-post intervention. RESULTS: After eight weeks, the experimental group demonstrated significant improvements in the KOOS (all subscales), pain VAS, and TUG scores compared to baseline (P<0.001); meanwhile, only KOOS (activities of daily living and sports subscales) was significant in the control group. Relative to the control, the experimental group presented higher improvements (P<0.001) by 22.2%, 44.1%, and 15.7% for KOOS, pain VAS, and TUG, respectively. CONCLUSION: Integrating the HBE+EDU program into usual KOA rehabilitation could reduce pain and disability, while it improved functional mobility. The finding of this study suggests a combination of a structured HBE and EDU program to be considered as part of mainstream KOA management.
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Osteoartritis de la Rodilla , Automanejo , Adulto , Humanos , Osteoartritis de la Rodilla/rehabilitación , Actividades Cotidianas , Resultado del Tratamiento , Dolor , Terapia por EjercicioRESUMEN
Bariatric procedures are on the rise as a surgical treatment for morbid obesity. In reproductive age of women, bariatric surgeries will improve factors related to anovulation and lead to spontaneous fertility. Spontaneous pregnancy can happen within a year after bariatric surgery due to higher level of sex hormone binding globulin and follicular stimulating hormone and reduction in androgens level. Reduction of length of follicular phase of menstrual cycle was reported and contribute to improved ovulatory status. The major impact to pregnant women is development of small for gestational age babies due to persistent weight loss but this can be minimized by avoiding pregnancies too soon after bariatric surgery and good nutrition supplement. Risk of developing gestational diabetes mellitus and preeclampsia reduced among post bariatric surgery compared to no surgery. Another benefit observed are reduction in the risk of caesarean section and admission to neonatal intensive care unit. There are no significant changes in composition of breast milk in postpartum women without bariatric surgery and with women whom undergone surgery although more study needed to evaluate this effect. Good prenatal care, micronutrient supplement during antenatal follow up and close supervision from expert managing this pregnancy are essential component to ensure good outcome to mothers and their newborn.
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BACKGROUND: Bilateral femoral neuropathy is an uncommon complication of various surgical and nonsurgical procedures, such as pelvic/abdominal surgery or vaginal delivery. Case Report. We report a case of a 41-year-old male who was found unresponsive against the wall in a "lithotomy-type" position with both knees flexed at approximately 90 degrees and both hips flexed and externally rotated at approximately 90 and 60 degrees, respectively, 24-48 hours after a drug overdose (combination of dihydrocodeine, paracetamol, diazepam, and amitriptyline). During his recovery, he complained of severe bilateral proximal lower limb weakness and bilateral distal lower limb pain and allodynia. His symptoms were initially attributed to critical illness myopathy/neuropathy (CIMN). However, thorough clinical and neurophysiological evaluation revealed that his symptoms were due to severe bilateral femoral neuropathies. CONCLUSIONS: To our knowledge, this is the first reported case of bilateral femoral nerve palsy due to prolonged posturing in a "lithotomy-type" position in the context of a drug overdose.
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A method for estimating the size of the group necessary in evaluation of the efficacy of preventive intervention among the population is described. The parameters for calculating the necessary size of the sample from an equation and the fundamentals of compiling tables by means of electronic computers are discussed. The data of the Kaunas survey conducted according to the WHO program illustrate the statistical approach. The material of the Kaunas survey is also used to estimate the size of the population necessary for testing the hypothesis on the possibility of preventing myocardial infarction by reducing the risk factor.
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Trastornos Cerebrovasculares/prevención & control , Infarto del Miocardio/prevención & control , Estudios de Evaluación como Asunto , Prueba de Tolerancia a la Glucosa , Humanos , Hipercolesterolemia/prevención & control , Hiperglucemia/prevención & control , Hipertensión/prevención & control , Lituania , Masculino , Persona de Mediana Edad , Riesgo , MuestreoRESUMEN
The spectrophotometric measurement of hemoglobin performed with a well standardized instrument using venous blood is widely accepted as a reference standard for anemia. In developed countries automated electronic counters are used instead. However, this method of determining anemia is not practical for screening in developing countries as it requires special skill or expensive equipment to obtain the specimen or to perform the test. The primary objective of this study was to determine the feasibility of using capillary microhematocrit measurement as a screening test for anemia. The 104 patients examined ranged in age from 6 months to 6 years; 65 were males and 36 females. Sixty one of the 104 cases (58.7%) were below 2 years of age and the other 43 cases (41.5%) were older than 2 years. Hemoglobin values ranged from 2.7-13.5 g/dl and capillary microhematocrit ranged from 9-41%. Analysis of the result showed a significant correlation between the capillary microhematocrit values and the capillary hemoglobin values (r = 0.99 and p less than 0.001). The sensitivity of the microhematocrit method for detecting anemia was 91.11% and the specificity was 89.83%. The predictive value for a normal (negative) microhematocrit was 92.98% and the predictive value for a low (positive) microhematocrit was 87.23%. We conclude from this study that the capillary microhematocrit measurement method can be appropriately used as a screening test for anemia.
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Anemia/diagnóstico , Niño , Preescolar , Países en Desarrollo , Femenino , Hematócrito , Hemoglobinas/análisis , Humanos , Indonesia , Lactante , Masculino , Valor Predictivo de las PruebasRESUMEN
All paediatric patients with the diagnosis of diphtheria who were seen at the Department of Child Health Ujung Pandang General Hospital from October 1987 to October 1989 were evaluated for bull-neck, ECG patterns and serum creatine phosphokinase (CPK) values. Their ages ranged from 1 year and 2 months to 13 years with a mean of 6.54 +/- 3.09 years. Males and females were affected in a ratio of 1:1. Of 39 patients included in the trial, 28 were classified as having normal ECG and 11 as having abnormal ECG on admission. During hospitalization, 56.4% of cases showed ECG changes. All patients had raised serum CPK levels on admission. This increase was 14.6 times the normal level in cases with abnormal ECG and only 3.0 times in those with normal ECG (p < 0.01). The highest levels of serum CPK were noted in the first week, then returned to normal in the second week and decreased further in the third week. It became also evident that patients who developed abnormal ECG later on, had already demonstrated an increased serum CPK level of 5.2 times the normal levels on admission. Bull-neck appeared in 19 out of the 39 patients. Patients with bull-neck differed very significantly (p < 0.001) from those without bull-neck in either the frequency of the occurrence of abnormal ECG patterns or the mean CPK serum levels.(ABSTRACT TRUNCATED AT 250 WORDS)
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Creatina Quinasa/sangre , Difteria/fisiopatología , Electrocardiografía , Adolescente , Niño , Preescolar , Difteria/complicaciones , Difteria/enzimología , Edema/etiología , Femenino , Humanos , Lactante , Masculino , Miocarditis/etiología , Cuello , Pronóstico , Estudios ProspectivosRESUMEN
A study of plasma concentrations of urea creatinine in 202 primary school children aged between 6 to 15 years was carried out in Ujung Pandang from November 1, 1988 through February 28, 1989. Sampling was done using multi-stage random sampling method. Plasma urea concentrations were not affected by sex, age and nutritional status. Normal distribution of plasma urea concentrations in P2.5 and P97.5 were 8.13 mg/dl and 24.09 mg/dl respectively (95% confidence level). There was no difference of creatinine concentration between the two sexes. The overall mean creatinine concentrations was significantly higher in the well-nourished group (0.73 +/- 0.081) mg/dl) as compared to PEM group (0.63 +/- 0.066 mg/dl). This study revealed a correlation between age and plasma creatinine concentrations in the well-nourished (r = 0.46, p less than 0.01) as well as in PEM (r = 0.37, p less than 0.01) group. Hence, normal distribution of plasma creatinine concentrations should be base on values in each age group. This study showed no correlation between plasma urea and creatinine concentrations.
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Creatinina/sangre , Urea/sangre , Adolescente , Factores de Edad , Niño , Fenómenos Fisiológicos Nutricionales Infantiles , Femenino , Humanos , Indonesia , Masculino , Estado Nutricional , Desnutrición Proteico-Calórica/sangre , Valores de Referencia , Factores SexualesRESUMEN
We have investigated hemoglobin O Indonesia (HbOIna) in related ethnic populations of the Indonesian archipelago: 1725 individuals of the five ethnic populations of South Sulawesi (Bugis, Toraja, Makassar, Mandar, and Kajang) and 959 individuals of the neighboring islands, who were divided into five phylogenetic groups: (a) Batak; (b) Malay from Padang, Pakanbaru, and Palembang in the island of Sumatra; (c) Javanese-related populations (Java, Tengger, and Bali) from the islands of Java and Bali; (d) populations of the Lesser Sunda Islands of Lombok, Sumba, and Sumbawa; and (e) the Papuan-languagespeaking population of Alor Island. Nineteen individuals heterozygous for HbO(Ina) were identified from the Bugis, Toraja, Makassar, and Kajang ethnic populations, but none from the other populations. In all cases, the underlying mutation was found to be in codon 116 (GAG to AAG) of the alpha1-globin gene, resulting in the Glull6Lys amino acid change. The level of HbO in the 17 individuals plus 12 additional family members carrying the mutation was found to be 11.6 +/- 1.0%, significantly lower than the expected 17%-22%, indicating the instability of HbO.
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Etnicidad/genética , Hemoglobinas Anormales/genética , Mutación , Sustitución de Aminoácidos , Pueblo Asiatico/genética , Secuencia de Bases , Cartilla de ADN , Demografía , Recuento de Eritrocitos , Femenino , Tamización de Portadores Genéticos , Globinas/genética , Hematócrito , Humanos , Indonesia , Masculino , Fenotipo , Filogenia , Polimorfismo de Longitud del Fragmento de Restricción , Mapeo Restrictivo , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
Three Indonesian patients with identical genotypes, each compound heterozygotes for Filipino beta(o)-thalassemia/HbE, expressed different clinical severities. One patient has mild disease and is transfusion independent, while the other two are severely affected and transfusion dependent. The size of the Filipino beta(o)-globin gene deletion was confirmed to be 45 kb, resolving conflicting values given in the literature. Neither ameliorating genetic factors such as alpha-globin gene deletions or the XmnI restriction site polymorphism at position -158 upstream of the (G)gamma-globin gene, nor differences in beta-globin gene haplotype, explain the phenotypic variation. These observations have implications for the development of antenatal diagnosis in Indonesia, as at present it is not possible to give an accurate prediction of severity of phenotype for this common genotype.
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Globinas/genética , Hemoglobina E/genética , Hemoglobinuria/genética , Eliminación de Secuencia , Talasemia beta/genética , Niño , Desoxirribonucleasas de Localización Especificada Tipo II , Electroforesis en Gel de Campo Pulsado , Femenino , Hemoglobinuria/complicaciones , Hemoglobinuria/etnología , Heterocigoto , Humanos , Indonesia , Masculino , Linaje , Fenotipo , Filipinas/etnología , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Diagnóstico Prenatal , Talasemia beta/complicaciones , Talasemia beta/etnologíaRESUMEN
OBJECTIVE: To determine the possible relationship between food and life style habits and bone health in adolescent Israeli females. METHODS: 2,000 adolescent Israeli Jewish and Arab high-school girls (mean age 14.5) completed a semi-quantitative food frequency questionnaire and a personal history questionnaire. 27 food components were calculated for each subject. Bone mineral content and density were determined for 112 subjects with calcium intake below 800 mg/day. RESULTS: Average calcium intake was found to be 1,260 mg/day, but 20% of all girls had a calcium intake below 800 mg/day. All low-energy diets were very low in calcium, as mean calcium intake per 1,000 calories was 411 128 grams. A large percentage of diets with less than 800 mg calcium were also deficient in phosphorus (95.2%), magnesium (84.8%). iron (90.5%) and zinc (100%). Due to differences in food sources. Jewish girls had more phosphorus in their diet, but less magnesium and iron compared to Arab girls. Calcium and zinc deficiencies in Jewish and Arab diets were similar. A negative correlation was found between body mass index (BMI) and age at menarche for all girls in the study. Bone mineral density (BMD) measured for girls with calcium intake below 800 mg/day distributed normally around the average when compared to age matched controls despite their low calcium intake. There was a strong positive correlation between BMD and bone mineral content (BMC) at all sites and body weights. CONCLUSIONS: Low calcium intake, other nutritional deficiencies and delayed menarche due to low-energy diet in the growing period and in adolescence may prevent the formation of healthy bones. There is no evidence of lower bone mass among the low calcium intake group in the study population at this stage. It remains to be documented if the window of opportunity for optimal bone accretion for this group will be missed in the future. possibly leading to increased risk of osteoporosis.