Familial cerebellar ataxia and hypogonadism associated with sensorimotor axonal polyneuropathy

In this article, we report two siblings who have familial cerebellar ataxia and hypogonadism associated with sensorimotor axonal polyneuropathy documented by light microscopy. This combination has not been reported previously in the literature. Cerebellar ataxia and hypogonadism is reviewed according to the clinical and laboratory features of the reported cases in the literature.     

Laryngopyocele: signs on computed tomography

A laryngocele is an air-filled dilation of the saccule of the larynx. An infected laryngocele is called a laryngopyocele. Our experience with a case of laryngopyocele with signs on computed tomography before and after antibiotic therapy is presented since laryngopyocele is more unusual.     

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

BackgroundFamilial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations.MethodsWe included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands carrying pathogenic variations were screened via Sanger sequencing. ResultsAmong 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene, 3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state.ConclusionIn this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations.     

Increased fetoplacental active renin production in pregnancy-induced hypertension

Since pregnancy-induced hypertension is associated with impaired uteroplacental blood flow, we studied fetoplacental and maternal renin production in controls and subjects with pregnancy-induced hypertension. We measured total, active, and inactive (pro-) renin in maternal serum, fetal arterial and venous blood, and chorion homogenate in eight normotensive term patients and 18 patients with pregnancy-induced hypertension. No differences in active or prorenin were found in maternal blood from normal women or patients with pregnancy-induced hypertension. In contrast, fetal artery and vein, as well as chorionic tissue, contained significantly higher active renin in pregnancy-induced hypertension compared with normal subjects. No difference in fetal or chorionic prorenin was seen in the two groups. Thus active to total renin ratio was higher in the fetus and chorion of subjects with pregnancy-induced hypertension, which suggests enhanced active renin production. These results suggest that pregnancy-induced hypertension is associated with increased activity of the renin-angiotensin system in the fetoplacental unit, which is not reflected in the maternal circulation. This may be an attempt by the fetus and chorionic membranes to maintain vascular homeostasis in the face of altered uteroplacental blood flow.     

Antioxidative,Cytotoxic, and Antibacterial Properties of Self-assembled Glycine-histidine-based Dipeptides with or Without Silver Nanoparticles in Bio-inspired Film

Recent years have seen much attention being given to self-assembly of dipeptide-based structures, especially to self-regulation of dipeptide structures with different amino acid sequences. In this study we investigated the effects of varying solvent environments on the self-assembly of glycine-histidine (Gly-His) dipeptide structures. First we determined the morphological properties of Gly-His films formed in different solvent environments with scanning electron microscopy and then structural properties with Fourier-transform infrared (FTIR) spectroscopy. In addition, we studied the effects of Gly-His films on silver nanoparticle (AgNP) formation and the antioxidant and cytotoxic properties of AgNPs obtained in this way. We also, assessed antibacterial activities of Gly-His films against Gram-negative Escherichia coli and Pseudomonas aeruginosa and Gram-positive Staphylococcus aureus. Silver nanoparticle-decorated Gly-His films were not significantly cytotoxic at concentrations below 2 mg/mL but had antibacterial activity. We therefore believe that AgNP-decorated Gly-His films at concentrations below 2 mg/mL can be used safely against bacteria.Key words: Ag, antibacterial surface, Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus, toxicity     

Clinical Impact of Empirical Antibiotic Therapy in Patients With Coronavirus Disease 2019 Requiring Oxygen Therapy

Despite the low prevalence of secondary bacterial infection in coronavirus disease 2019 (COVID-19) patients, most of them were administered antibiotic therapy empirically. However, the prognostic impact of empirical antibiotic therapy has not been evaluated. We conducted retrospective propensity score-matched case-control study of 233 COVID-19 patients with moderate to severe illnesses who required oxygen therapy and evaluated whether empirical antibiotic therapy could improve clinical outcomes. Empirical antibiotic therapy did not improve clinical outcomes including length of stay, days with oxygen requirement, the proportion of patients with increased oxygen demand, the proportion of patients who required mechanical ventilation, and overall mortality. This finding implies that routine administration of antibiotics for the treatment of COVID-19 is not essential and should be restricted.     

Comment on “The effect of omalizumab on hematological and inflammatory parameters in patients with chronic spontaneous urticarial”: reply from authors

Abstract

We read Cosansu’s commentary entitled “Effectiveness of the new inflammatory parameters in patients with chronic spontaneous urticarial” to our study with great interest. The author remarked that a limited number of patients had C-reactive protein levels and it was not specified whether there were any other drugs used by the patients and no information was given about the severity of the disease in our study.