The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Relation of Climate Temperature to Intracerebral Hemorrhage Volume

OBJECTIVE: In our study we aimed to investigate the correlation between volumes of intracerebral parenchymal hemorrhage, control of hypertension and daily weather temperature changes. METHODS: Data of total 88 patients (49 male-39 female, age 66.50 ± 15.00) with parenchymal hemorrhage were analysed retrospectively (June 2004-June 2009). Hypertension in medical history, arterial blood pressure levels at the time of referral to our clinic, antihypertensive drug usage, hemorrhage volume measured in computerized tomography and daily highest weather temperature were analysed. RESULTS: There was no correlation between volume of hemorrhage and existence of hypertension and drug usage (p> 0.05). There was no correlation between patients’s age and volume of hemorrhage (p> 0.05). There was no correlation between daily weather temperature and volume of hemorrhage in the normotensive patients according to our results. Furthermore there was statistically significant negative correlation between weather temperature and volume of hemorrhage in hypertensive patients without any effect of being on antihypertensive treatment (correlation factor: -0.254) (p< 0.05). CONCLUSION: The volume of hemorrhage in hypertensive patients with hemorrhagic stroke during colder weather seems to be larger. Thus their prognosis are worse. Probably change in the blood viscosity might be responsibl

Does melatonin alleviate ototoxic effect caused by administration of cisplatin?

Aim: In this study, it was aimed to experimentally investigate the protective effects of melatonin in the cisplatin-induced ototoxicity. Material and Methods: Ten Wistar-albino rats were included in the study. Two equal groups were generated randomly as cisplatin and melatonin groups. Rats’ underwent Auditory Brainstem Response (ABR) and Distortion Product Otoacoustic Emission (DPOAE) testing before the drug administration and the results were recorded. Both tests were repeated 72 hours after the cisplatin administration in all rats. Results: Significant difference was found between the I-IV interval values before the treatment and after the treatment both in cisplatin and melatonin group. As well as the significant difference in hearing threshold value changes, statistically, significant differences in ABR-I and ABR-IV interval variations were also seen between the cisplatin and melatonin groups. A statistically significant decrease was found between the initial and final control SNR (signal-to-noise ratio) levels within the cisplatin group in the evaluations at 2000Hz, 3000Hz and 4000Hz. Statistically, significant differences were observed between SNR levels when the melatonin group was compared with the cisplatin group. Conclusion: Melatonin appears to reduce cisplatin-induced ototoxicity in rats. Although, the use of supplementary therapies targeting to reduce the toxic effects in clinical studies is still a controversial point

Effects of methotrexate in a toluene diisocyanate-induced allergic rhinitis rat model

Objectives: This study aims to investigate the therapeutic effect of low-dose topical administration of methotrexate (MTX) in a toluene diisocyanate (TDI)-induced allergic rhinitis rat model. Materials and Methods: The experiments were performed on 18 healthy male Wistar albino rats weighing between 250-270 g. Rats were divided into four study groups: control group (n=5), sham group (n=3), steroid group (n=5), and MTX group (n=5). After the drugs were administered, multiple biopsies were taken bilaterally from the nasal mucosal areas and evaluated histologically for fibrosis, loss of cilia and goblet cells, edema, squamous cell metaplasia, and vascular proliferation. Results: Fibrosis, loss of cilia cells, edema, and vascular proliferation were significantly lower in both MTX and steroid groups than in the control group (p0.05). There were no statistically significant differences with respect to loss of goblet cells and squamous cell metaplasia among the studied groups (p>0.05). Conclusion: Methotrexate may be an alternative or adjuvant therapeutic agent in allergic rhinitis

Locking of Tunneled Cuffed Hemodialysis Catheters with a Mixture of 45% Ethanol and 4% Trisodium Citrate is Effective in Preventing Catheter-Related Infections and Thrombosis

OBJECTIVE: In this study, we aimed to investigate the effect of a mixture consisting of 45% ethanol and 4% trisodium citrate (E-TSC) on the development of catheter-related infection (CRI) and catheter thrombosis in hemodialysis patients

COVID-19 Infection in Peritoneal Dialysis Patients: A Comparative Outcome Study with Patients on Hemodialysis and Patients without Kidney Disease

Objectives: There is limited data about coronavirus disease-19 (COVID-19) characteristics and results in peritoneal dialysis (PD) patients. This study aimed to investigate the characteristics and outcomes among PD patients and compare them with matched hemodialysis (HD) patients and a control group without kidney disease

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) to chromosome 6p25 in a consanguineous Turkish family. The degree of hearing loss was moderate to severe in affected individuals. We subsequently identified a nonsense mutation (p.E245X) in SERPINB6, which is located within the linkage interval for DFNB91 and encodes for an intracellular protease inhibitor. The p.E245X mutation cosegregated in the family as a completely penetrant autosomal-recessive trait and was absent in 300 Turkish controls. The mRNA expression of SERPINB6 was reduced and production of protein was absent in the peripheral leukocytes of homozygotes, suggesting that the hearing loss is due to loss of function of SERPINB6. We also demonstrated that SERPINB6 was expressed primarily in the inner ear hair cells. We propose that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss

Impact of hospital-acquired acute kidney injury on Covid-19 outcomes in patients with and without chronic kidney disease: a multicenter retrospective cohort study

Background/aim: Hospital-acquired acute kidney injury (HA-AKI) may commonly develop in Covid-19 patients and is expected to have higher mortality. There is little comparative data investigating the effect of HA-AKI on mortality of chronic kidney disease (CKD) patients and a control group of general population suffering from Covid-19. Materials and methods: HA-AKI development was assessed in a group of stage 3 & ndash;5 CKD patients and control group without CKD among adult patients hospitalized for Covid-19. The role of AKI development on the outcome (in-hospital mortality and admission to the intensive care unit [ICU]) of patients with and without CKD was compared. Results: Among 621 hospitalized patients (age 60 [IQR: 47 & ndash;73]), women: 44.1%), AKI developed in 32.5% of the patients, as stage 1 in 84.2%, stage 2 in 8.4%, and stage 3 in 7.4%. AKI developed in 48.0 % of CKD patients, whereas it developed in 17.6% of patients without CKD. CKD patients with HA-AKI had the highest mortality rate of 41.1% compared to 14.3% of patients with HA-AKI but no CKD (p < 0.001). However, patients with AKI+non-CKD had similar rates of ICU admission, mechanical ventilation, and death rate to patients with CKD without AKI. Adjusted mortality risks of the AKI+non-CKD group (HR: 9.0, 95% CI: 1.9 & ndash;44.2) and AKI+CKD group (HR: 7.9, 95% CI: 1.9 & ndash;33.3) were significantly higher than that of the non-AKI+non-CKD group. Conclusion: AKI frequently develops in hospitalized patients due to Covid-19 and is associated with high mortality. HA-AKI has worse outcomes whether it develops in patients with or without CKD, but the worst outcome was seen in AKI+CKD patients