Valdezkorsgaard0823
new therapeutic interventions. We further brought up interesting new insights into the pathophysiology of GA-I in brain and periphery.
Ankle trauma in children and adolescents is the most common orthopedic injury encountered in pediatric trauma. It has long been recognized that a lateral ankle injury in this population is often a Salter and Harris type I fracture of the distal fibula (SH1). The purpose of this study is to confirm the existence of a lateral ankle sprain and to report the incidence of each pathology of the lateral ankle compartment SH1 fracture, ATFL injury, and osteochondral avulsions.
A systematic review of the literature is done using the database provided by PubMed and Embase. All articles reporting the incidence of imaging modality-confirmed lateral ankle injury (SH1, ATFL injury, osteochondral avulsion) in children and adolescents were included. Exclusion criteria were the following case reports or articles with less than ten subjects, unspecified imaging modality and articles unrelated to lateral ankle lesions. Thus, 237 titles and abstracts were selected, 25 were analyzed thoroughly, and 11 articles were included fochondral avulsions. This should be taken into consideration in daily practice when ordering radiological examination and deciding on treatment modalities.
Malnutrition is common in chronic kidney disease stage 5 (CKD5) and has negative clinical impacts. The aim of the present study is to evaluate bioimpedance spectroscopy (BIS) in diagnosing malnutrition in CKD5 including hemodialysis and peritoneal dialysis patients (CKD5D) using cutoff values for fat-free mass index (FFMI) according to the Global Leadership Initiative on Malnutrition criteria. Dual-energy X-ray absorptiometry (DXA) was used as a reference method.
We performed a single-center cross-sectional diagnostic study of 90 patients with CKD5 or CKD5D.
BIS-derived FFMI estimates were significantly higher compared with those obtained by DXA (18.5 ± 2.6 vs.17.8 ± 2.0, P < .05). The mean difference in FFMI estimates between the methods (DXA-BIS) and Bland-Altman 95% limits of agreements is -0.38 (2.76, -3.52) kg/m
. Overhydration (B = 0.67, P < .001), age (B = 0.02, P = .037), and interactions between overhydration and CKD5 subgroups (P = .034) independently predicted bias in BIS-derived FFMI. BIS-derived FFMI showed poor sensitivity (64%) and positive predictive value (48%) in diagnosing malnutrition in the present study population.
The present study showed a limited agreement between estimates of FFMI derived by BIS and DXA due to a large interindividual variation. Gefitinib Using BIS as a clinical tool for assessing FFMI has limited accuracy and poor sensitivity in diagnosing malnutrition in patients with CKD5 and CKD5D.
The present study showed a limited agreement between estimates of FFMI derived by BIS and DXA due to a large interindividual variation. Using BIS as a clinical tool for assessing FFMI has limited accuracy and poor sensitivity in diagnosing malnutrition in patients with CKD5 and CKD5D.Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin. We present detailed phenotype and genotype data from a cohort of 40 cases with SCN4A gene mutations seen in neuromuscular diagnostic service in Huashan hospital, Fudan University. Cases were referred from 6 independent provinces from 2010 to 2018. A questionnaire covering demographics, precipitating factors, episodes of paralysis and myotonia was designed to collect the clinical information. Electrodiagnostic studies and muscle MRI were retrospectively analyzed. The clinical spectrum of patients included 6 Hyperkalemic periodic paralysis (15%), 18 Hypokalemic periodic paralysis (45%), 7 sodium channel myotonia (17.5%), 4 paramyotonia congenita (10%) and 5 heterozygous asymptomatic mutation carriers (12.5%). Review of clinical information highlights a significant delay to diagnosis (median 15 years), reports of pain and myalgia in the majority of patients, male predominance, circadian rhythm and common precipitating factors. Electrodiagnostic studies revealed subclinical myotonic discharges and a positive long exercise test in asymptomatic carriers. Muscle MRI identified edema and fatty infiltration in gastrocnemius and soleus. A total of 13 reported and 2 novel SCN4A mutations were identified with most variants distributed in the transmembrane helix S4 to S6, with a hotspot mutation p.Arg675Gln accounting for 32.5% (13/40) of the cohort. Our study revealed a higher proportion of periodic paralysis in SCN4A-mutated patients compared with cohorts from England and the Netherlands. It also highlights the importance of electrodiagnostic studies in diagnosis and segregation studies.Very long-chain acyl-coenzyme A (CoA) dehydrogenase (VLCAD) deficiency is an autosomal recessive fatty acid oxidation disorder characterized by rhabdomyolysis, hypoglycemia and cardiomyopathy. The general treatment approach in adult patients is based on the prevention of catabolism. High carbohydrate, low fat diet and supplementation of medium-chain triglycerides are essential in the treatment. There is little experience with pregnancy follow-up in this patient group. We present a complicated peripartum course and successful management in a patient with VLCAD deficiency. Although high-dose glucose infusion was initiated, creatine kinase levels significantly increased in the immediate postpartum period, but the patient remained asymptomatic and rhabdomyolysis resolved rapidly after increasing the glucose infusion rate.
Many dietary guidelines encourage low-fat dairy products; however, recent studies have found null and inverse associations between high-fat dairy intake and cardiovascular disease (CVD) risk. We examined the association between the intake of total dairy and different types of dairy and carotid intima-media thickness (IMT), a marker of subclinical atherosclerosis, in Mexican women.
Dairy consumption was assessed using a validated food-frequency questionnaire (FFQ) in 1759 women in the Mexican Teachers' Cohort (MTC) study who were free of CVD or cancer. We categorized participants according to total dairy intake and consumption of four mutually exclusive dairy groups high-fat, low-fat, yogurt, and dairy with added sugars. IMT and atherosclerotic plaque were measured by B-mode ultrasonography. Subclinical atherosclerosis was defined as an IMT ≥0.8mm and/or the presence of plaque. Multivariable linear regression and logistic regression models were used to respectively assess the mean percentage difference of mean IMT and odds ratios (OR) for subclinical atherosclerosis across quantiles of dairy consumption.
