Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. Results: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. Conclusions: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia

Turkish Expressive and Receptive Language Test: I. Standardization, Reliability and Validity Study of the Receptive Vocabulary Sub-Scale

Objective: A reliable, valid and original test to assess the receptive vocabulary skills of children in Turkey was not available. Thus, the purpose of the current study was to develop a receptive vocabulary test for Turkish children based on the Turkish language

Automated Location of Optic Disk and Fovea in Color Fundus Images

Medical image analysis to aid in clinical diagnosis is one of the research areas currently drawing intense interests Of scientists. The retinal fundus photographs are widely used in the diagnosis and treatment of various eye diseases in clinics. OD detection is a main step while developing automated screening systems for a lot of eye diseases. This study describes the methods to detect OD and fovea regions main features of fundus images. To determine the OD we find the brightest part of the fundus. The candidate region of fovea is defined and area circle. The detection of fovea is done by using its spatial relationship with OD

Biotin deficiency in hyperemesis gravidarum

The aim of this study was to determine the serum biotin levels in patients with hyperemesis gravidarum (HG). Ninety pregnant women with HG (mild (n = 30), moderate (n = 30) and severe (n = 30)), and 80 pregnant women without HG were included for this study. In both groups, serum biotin levels were measured. There were no statistically significant differences in demographic and clinical characteristics between the HG groups and the control group except for PUQE scores. Serum biotin levels in all hyperemesis gravidarum groups were statistically significantly lower than control group. Negative statistically significant correlation between hyperemesis gravidarum severity and serum biotin levels was noted. This is the first study that shows low serum biotin levels in women with hyperemesis gravidarum.Impact statement What is already known on this subject? Almost 80% of pregnant women have nausea and vomiting. If nausea and vomiting became severe and the symptoms combined with weight loss and ketonuria; the diagnosis should be hyperemesis gravidarum (HG). The etiopathogenetic factors of this unwanted condition have not been exactly known. Biotin is an essential water-soluble vitamin. Biotin catabolism increases in pregnancy. Marginal biotin deficiency occurs in approximately 50% of the gestations despite the “normal” biotin intake on the diet. What do the results of this study add? Current study results elucidated that serum biotin levels were lower in HG cases compared to non HG cases. This study is the first study that reports the association between low serum level of biotin and HG. What are the implications of these findings for clinical practice and/or further research? Further research is needed to show the importance of biotin supplementation in women with hyperemesis gravidarum

Effect of hemoglobin F and A(2) on hemoglobin A(1c) determined by cation exchange high-performance liquid chromatography

WOS: 000489533000006Background: The potential effect of increase in hemoglobin (Hb) A(2) and HbF on glycated hemoglobin (HbA(1c)) measurements were investigated using a high-performance liquid chromatography (HPLC) method compared with an immunoturbimetric assay. Methods: Samples producing abnormal chromatograms during the measurement of routine HbA(1c) testing with HPLC were further analyzed to characterize abnormal Hb variants. Patients were divided into three groups that had only high HbF (group 1), only high HbA(2) (group 2), and both high HbA(2) and HbF (group 3). A(1c) values of patients were re-assayed using the immunoturbidimetric method (Advia, Siemens Healthcare, Germany). Results: HbA(1c) levels were significantly higher in all groups measured by immunoassay than in HPLC. We found a positive correlation between I IPLC and immunoturbidimetry in the group 2 and a slight correlation in the group 1. There was no correlation between the two methods in group 3. Conclusions: HbA(1c) measurement by HPLC method interfering with elevated HbA(2) and HbF, especially HbF, should be verified by an immunoturbidimetric method

Embolization of Dural Carotid-Cavernous Fistulas via the Thrombosed Superior Ophthalmic Vein

WOS: 000321698400015PubMed ID: 23715515Purpose: To present the authors' experience treating dural carotid-cavernous sinus fistulas (CCF) with retrograde embolization via the thrombosed superior ophthalmic vein (SOV). Methods: The medical records of 4 patients with dural CCFs treated via the thrombosed SOV were reviewed. All procedures were performed unilaterally in the interventional radiology unit with the administration of general anesthesia. The SOV was exposed via an eyelid crease incision, and then an angiocatheter was inserted in the vein and advanced through the segment with thrombosis to the cavernous sinus, where embolizing agents were deposited. After the procedure, the patients were followed up and evaluated clinically. Results: Three patients had unilateral CCFs, and 1 had a bilateral CCF (3 women and 1 man; age range, 58-68 years). The CCFs were Barrow type B (n = 2) and Barrow type D (n = 2). All patients had severe venous congestive orbital symptoms, chorioretinopathy, increased intraocular pressure, and visual loss. In all cases, the SOV appeared as a pale, thin, tortuous vessel adherent to the surrounding tissues during the surgical procedure. In 3 patients, the cavernous sinus was successfully embolized, and all symptoms were completely resolved without recurrence during follow up (3, 15, and 24 months). In the patient in whom the SOV could not be catheterized, the symptoms regressed slowly, but visual acuity remained unchanged during follow up (64 months). Conclusions: Dural CCFs can be successfully treated through the SOV, even when the vein is thrombosed. Identification and catheterization of the thrombosed SOV may be difficult because of the tiny and fibrotic structure of the vein

Comparison of Regularity Detection between Individuals with and without Speech-in-Noise Problems using Electrophysiological Methods

OBJECTIVE: To analyze the cortical representations of auditory regularities and the relation between these representations and speech-in-noise (SIN) abilities and to compare two groups of participants with different SIN abilities on these cortical measures. MATERIALS and METHODS: In total, 22 participants aged 20-40 years with normal hearing and without noise exposure, brain stem level-processing issues, neurological/psychiatric issues, or related medication were presented with three different stimuli resembling auditory regularities appearing after random sounds as well as a random series of sounds. Participants received a total of 480 stimuli in passive and active phases each (in which they actively detected regularities). Evoked responses were recorded via 20-channel standard electroencephalography (EEG) cap. RESULTS: The groups were not significantly different in terms of evoked potential parameters. A significant negative correlation was observed between amplitudes of responses evoked by decreasing the frequency regularity in the active phase and SIN scores. Response parameters were significantly different between the stimuli. Active phase latencies were shorter and amplitudes were higher than passive phase ones, except for two stimuli. CONCLUSION: Cortical representations of decreasing frequency regularity are promising for revealing the link between SIN and representations of regularity detection. This paradigm is suggested to applicable to individuals with clinical-level SIN problems [hearing aid (HA) and cochlear implant (CI) users, normal-hearing individuals, children with learning problems, children with dyslexia, and others] to reveal which process of SIN mechanism is defective; this is a complicated process with many sub-mechanisms. These results may be utilized in designing CI and HA algorithms (for more robust representations of auditory regularities) and rehabilitation programs

Connectors as a risk factor for blood-associated infections (3-way stopcock and needleless connector): A randomized-experimental study

WOS: 000516608100007PubMed: 31604623Background: Microorganisms causing catheter-related bloodstream infections colonize to intravenous catheters (IVC)-particularly to connectors mounted to catheters. the aim of this study was to examine the colonization in 3-way stopcock (TWS) connectors and needleless connectors (NCs) that integrated into central, port, and peripheral venous catheters. Methods: This random, experimental study consisted of 180 connectors that were inserted into the IVCs of patients in general surgery, reanimation intensive care, and daily chemotherapy units. Cultures of the connectors were obtained at least 48 hours after connecting to IVCs. Results: This study showed that gram-negative, gram-positive, and other pathogens reproduced, although their colonization level was not high enough to develop an infection. When the results of colonization for patients using TWS and NC were compared, the peripheral venous catheters (using a TWS) resulted in a significantly higher increase in reproduction than in patients using NC (P .05). Conclusions: the study's results indicated no significant difference between NC and TWSs in terms of reproduction. It should also be noted that connectors integrated into IVC pose a risk in the development of catheter-related bloodstream infections. (C) 2019 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.Koc University Semahat Arsel Nursing Education and Research Center (SANERC) in TurkeyThis research was supported by Koc University Semahat Arsel Nursing Education and Research Center (SANERC) in Turkey