Aortic elastic properties in athletes using anabolic-androgenic steroids

The use of anabolic-androgenic steroids (AAS) has been linked to acute cardiovascular events in athletes. The purpose of the present study was to investigate the aortic elastic properties in athletes who had been self-administering AAS compared with a group of athletes not using these drugs. Fourteen male bodybuilders using AAS and 27 male wrestlers (non-users) volunteered to the study. All subjects were placed in a mild recumbent position and the ascending aorta was recorded in the two-dimensional guided M-mode tracings. Although the aortic distensibility was found to be reduced in user athletes (2.1 +/- 1.1 vs. 3.8 +/- 1.4 cm(2) dyn(-1) 10(-6), p = 0.01; 9.3 +/- 3.7 vs. 5.9 +/- 2.5, p = 0.003, respectively). The results of this study indicate that aortic stiffness is increasing in athletes using AAS. (c) 2005 Elsevier Ireland Ltd. All rights reserved

Traumatic lung pathologies confused with COVID-19

While the COVID-19 pandemic affected the whole world, lung radiologic imaging has become widely used for diagnosis. Ground glass opacity is the most detected radiologic findings in pulmonary tomography. However, in the first 6-8 hours of CT scans of patients admitted to the hospital with injuries affecting the chest cavity, single or multiple patchy and/or diffuse ground-glass parenchymal infiltrates can be seen usually. Due to these appearances, it is necessary to eliminate COVID-19 in cases with a lung contusion. This study aims to evaluate the clinical and laboratory characteristics of patients who presented with pulmonary trauma and were suspected of COVID-19 due to lung images. Between the March 2020 and December 2020 pandemic period, patients who applied to our hospital in emergency services due to trauma and who were discharged or hospitalized in COVID services or followed in intensive care units because COVID-19 could not be excluded due to lung tomography findings were included in the study. It was evaluated retrospectively with laboratory tests and thoracic CTs in patients over 18 years old. Fourteen cases were included in the study, seven of them were males (50%), with a mean age of 45 (19-74). The COVID-19 PCR result was negative for all patients except one patient (case 11) with lymphopenia. Peripherally located ground-glass opacity (GGO) (92.9%), subpleural line (85.7%), air bronchogram (64.3%), pleural thickening (64.3%), atelectasis (% 64.3), consolidation (50%), ground glass mixed consolidation (42.9%) was detected in chest CT cases. Eleven cases (78.6%) were hospitalized to the COVID service or intensive care unit. Thoracic CT images of patients with lung trauma may be confused with COVID-19. It is appropriate to evaluate the cases together with epidemiological data, clinical and laboratory findings. Lymphopenia may help physicians to consider the diagnosis of COVID-19 in trauma patients. [Med-Science 2022; 11(2.000): 712-6

Evaluation Of Central Nervous System In Patients With Glycogen Storage Disease Type 1A

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group. Five patients had intellectual disability, 10 had EEG abnormalities, seven had abnormal VEP and two had abnormal BAEP results. MRI was abnormal in five patients. There was significant correlation between the number of hypoglycemic attacks and MRI abnormalities. Central nervous system may be affected in GSD type 1a even in patients with normal neurologic examination. Accumulation of abnormal results in patients with poor metabolic control supports the importance of metabolic control in GSD type 1a.WoSScopu

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It manifests with microcephaly, intractable seizures, and progressive cerebral atrophy. Currently, there is no established treatment for this condition. In our pediatric cohort, we discovered, by whole-exome sequencing in two siblings from Turkey, a novel homozygous missense mutation in asparagine synthetase at NM_133436.3 (ASNS_v001): c.1108C>T that results in an amino acid exchange p.(Leu370Phe), in the C-terminal domain. After identification of the metabolic defect, treatment with oral asparagine supplementation was attempted in both patients for 24 months. Asparagine supplementation was well tolerated, and no further disease progression was observed during treatment. One of our patients showed mild developmental progress with increased levels of attention and improved nonverbal communication. These results support our hypothesis that asparagine supplementation should be further investigated as a treatment option for ASNSD. We further reviewed all previously reported ASNSD cases with regard for their clinical phenotypes and brain imaging findings to provide an essential knowledge base for rapid diagnosis and future clinical studies

Evaluation of Patients with Fibrotic Interstitial Lung Disease: Preliminary results from the Turk-UIP Study

OBJECTIVE: Differential diagnosis of idiopathic pulmonary fibrosis (IPF) is important among fibrotic interstitial lung diseases (ILD). This study aimed to evaluate the rate of IPF in patients with fibrotic ILD and to determine the clinical-laboratory features of patients with and without IPF that would provide the differential diagnosis of IPF

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations