ABSTRACT
The transmembrane domain recognition complex (TRC) pathway is required for the insertion of C-terminal tail-anchored (TA) proteins into the lipid bilayer of specific intracellular organelles such as the endoplasmic reticulum (ER) membrane. In order to facilitate correct insertion, the recognition complex (consisting of BAG6, GET4 and UBL4A) must first bind to TA proteins and then to GET3 (TRC40, ASNA1), which chaperones the protein to the ER membrane. Subsequently, GET1 (WRB) and CAML form a receptor that enables integration of the TA protein within the lipid bilayer. We report an individual with the homozygous c.633 + 4A>G splice variant in CAMLG, encoding CAML. This variant leads to aberrant splicing and lack of functional protein in patient-derived fibroblasts. The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found. Mislocalization of syntaxin-5 in patient fibroblasts and in siCAMLG deleted Hela cells confirms this as a consistent cellular marker of TRC dysfunction. Interestingly, the level of the v-SNARE Bet1L is also drastically reduced in both of these models, indicating a fundamental role of the TRC complex in the assembly of Golgi SNARE complexes. It also points towards a possible mechanism behind the hyposialylation of N and O-glycans. This is the first reported patient with pathogenic variants in CAMLG. CAMLG-CDG is the third disorder, after GET4 and GET3 deficiencies, caused by pathogenic variants in a member of the TRC pathway, further expanding this novel group of disorders.
Subject(s)
Endoplasmic Reticulum , Lipid Bilayers , Endoplasmic Reticulum/genetics , Endoplasmic Reticulum/metabolism , Glycosylation , HeLa Cells , Humans , Lipid Bilayers/analysis , Lipid Bilayers/metabolism , Molecular Chaperones/metabolism , Qa-SNARE Proteins/metabolism , Qc-SNARE Proteins/analysis , Qc-SNARE Proteins/metabolism , Ubiquitins/metabolismABSTRACT
Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder which results from the inability of biotin-dependent carboxylase enzymes to function due to the release and absorption of biotin, leading to neurological and cutaneous findings. In the present study, evaluation of demographic characteristics, clinical findings, laboratory results, molecular genetic characteristics, and genotype-phenotype correlations of cases with BD. Two hundred forty-seven cases were included in the study who were admitted to the Department of Pediatric Metabolism of Ankara Bilkent City Hospital after being identified with potential BD through the Newborn Screening Program (NBS), during family screening or based on suspicious clinical findings, or following the detection of a pathogenic variant in a BTD genetic analysis during the period of October 2020 and February 2022. The medical files of the cases were reviewed retrospectively. An analysis of the admission routes of all cases to our clinic revealed 89.5% NBS, 5.7% family screening, and 4.9% suspicious clinical findings suggestive of BD. Complete enzyme deficiency was identified in 19.8%, partial enzyme deficiency in 55.1%, and heterogenous enzyme deficiency in 9.7%. The most common pathogenic variants were c.1270G > C (p.Asp424His), c.410G > A (p.Arg137His), and c.38_44delGCGCTGinsTCC (p.Cys13Phefs*36) in BTD gene. The c.1270G > C variant was most common in patients with cutaneous symptoms. The c.410G > A and c.38_44delGCGCTGinsTCC variants were more common in the patients with neurological symptoms. The mean activity level in patients with the c.1270G > C homozygous variant was statistically significantly higher than the mean activity level in the c.1270G > C compound heterozygous patients and the activity level of patients without the c.1270G > C variant. The mean activity level in c.410G > A homozygous patients was statistically significantly lower than the mean activity level of the c.410G > A compound heterozygous patients and the activity level of patients without the c.410G > A variant. In the course of our study, four new pathogenic variants were detected, namely: c.190G > A (p.Glu64Lys), c.249 + 5G > T, c.228delA (p.Val77*), and c.682A > G (p.Ile228Val). Conclusions: The present study has determined the clinical and genetic spectrum of a large group of patients with BD in a single center. The frequent mutations in our study were similar to those reported in literature, and four novel variants were also described. What is Known: ⢠Biotinidase deficiency is an autosomal recessive, treatable inborn error of metabolism. Two hundred ninety-four pathogenic variants in the BTD gene have been identified and the c.1270G > C variant is the most frequent BTD gene mutation in both Turkey and around the world. What is New: ⢠Four new pathogenic variants (c.190G > A, p.Glu64Lys; c.249 + 5G > T; c.228delA, p.Val77*; and c.682A > G, p.Ile228Val) have been identified. It is believed that the c.38_44delGCGGCTGinsTCC variant is more commonly seen in individuals with ocular issues; however, further genotype-phenotype correlations are needed.
Subject(s)
Biotinidase Deficiency , Infant, Newborn , Humans , Child , Biotinidase Deficiency/diagnosis , Biotinidase Deficiency/genetics , Biotinidase Deficiency/pathology , Biotinidase/genetics , Biotinidase/metabolism , Biotin/therapeutic use , Biotin/genetics , Retrospective Studies , Mutation , Neonatal Screening , Molecular BiologyABSTRACT
BACKGROUND: Multiple myeloma (MM), characterized by extensive genomic instability and aberrant DNA damage repair, is a plasma cell malignancy due to the excessive proliferation of monoclonal antibody-producing plasma cells in the bone marrow. Despite the significant improvement in the survival of patients with the development of novel therapeutic agents, MM remains an incurable disease. Werner (WRN) helicase, a member of the RecQ helicase family that contributes to DNA replication, recombination, and repair, has been highlighted in cancer cell survival, yet the role and mechanism of WRN in MM remain unclear. METHODS AND RESULTS: Increased mRNA expression of WRN in newly diagnosed and relapsed CD138+ myeloma plasma cells than normal CD138+ plasma cells and their matched CD138- non-tumorigenic cells were detected by qPCR. Using NSC19630, a specific WRN helicase inhibitor, we further showed decreased cell viability, proliferation, and DNA repair and increased DNA damage and apoptosis in MM cells by MTT assay, cell cycle assay, apoptosis assay, and Western blotting. CONCLUSIONS: The results of the present study demonstrate that WRN is essential in MM cell viability, proliferation, and genomic stability, indicating its inhibition may enhance the efficacy of chemotherapy in MM.
Subject(s)
Multiple Myeloma , Humans , Multiple Myeloma/genetics , Werner Syndrome Helicase/genetics , Werner Syndrome Helicase/metabolism , Exodeoxyribonucleases/genetics , DNA Repair/genetics , RecQ Helicases/genetics , RecQ Helicases/metabolism , DNA Replication , DNA Damage/genetics , Cell Proliferation/geneticsABSTRACT
BACKGROUND: People with spinal cord injury (SCI) frequently develop neuropathic pain (NP) that worsens disability and diminishes rehabilitation efficacy. Chronic NP is presently incurable due to poor understanding of underlying mechanisms. We hypothesized that multilocus neuroinflammation (NIF) might be a driver of SCI NP, and tested it by investigating whether NP coexisted with central NIF, neurotransmission (NTM), neuromodulation (NML) and neuroplasticity (NPL) changes post-SCI. METHODS: Female Sprague-Dawley rats (230-250 g) with T10 compression or laminectomy were evaluated for physical conditions, coordinated hindlimb functions, neurological reflexes, and mechanical/thermal sensitivity thresholds at 1 day post-injury (p.i.) and weekly thereafter. Eight weeks p.i., central nervous system tissues were histochemically and immunohistochemically characterized for parameters/markers of histopathology and NIF/NTM/NML/NPL. Also analyzed was the correlative relationship between levels of selected biomarkers and thermosensitivity thresholds via statistical linear regression. RESULTS: SCI impaired sensorimotor functions, altered reflexes, and produced spontaneous pain signs and hypersensitivity to evoked nociceptive, mechanical, and thermal inputs. Only injured spinal cords exhibited neural lesion, microglia/astrocyte activation, and abnormal expression of proinflammatory cytokines, as well as NIF/NTM/NML/NPL markers. Brains of SCI animals displayed similar pathophysiological signs in the gracile and parabrachial nuclei (GrN and PBN: sensory relay), raphe magnus nucleus and periaqueduct gray (RMN and PAG: pain modulation), basolateral amygdala (BLA: emotional-affective dimension of pain), and hippocampus (HPC: memory/mood/neurogenesis). SCI augmented sensory NTM/NPL (GrN and PBN); increased GAD67 (PAG) level; reduced serotonin (RMN) and fear-off neuronal NTR2 (BLA) expressions; and perturbed neurogenesis (HPC). CONCLUSION: T10 compression caused chronic hyperalgesia that coexisted with NIF/NTM/NML/NPL responses at multilevel neuroaxis centers. The data have provided multidimensional biomarkers as new mechanistic leads to profile SCI NP for therapeutic/therapy development.
Subject(s)
Neuralgia , Spinal Cord Injuries , Rats , Animals , Female , Hyperalgesia/metabolism , Rats, Sprague-Dawley , Neuralgia/metabolism , Spinal Cord Injuries/pathology , Inflammation/complications , BiomarkersABSTRACT
BACKGROUND: We aimed to analyze the neutrophil/lymphocyte ratio (NLR) and lymphocyte/monocyte ratio (LMR) to investigate their value in supporting the diagnosis of influenza in cases with influenza-like symptoms. METHODS: A total of 5,693 pediatric patients who applied to the Pediatric Clinic between January 2015 and December 2018 were included in the study. Complete blood count and influenza rapid antigen tests were evaluated at the time of admission. RESULTS: The mean LMR was significantly lower in patients with influenza A than non-influenza A patients (p < 0.001). LMR was also significantly lower in those with influenza A or B compared to those in the influenza-negative group (p < 0.001). There was no significant difference (p = 0.83) in terms of the mean LMR between influenza B positive and negative patients. The mean NLR was significantly higher in influenza A positive patients in comparison with influenza A negative patients (p < 0.001), and it was significantly lower in influenza B positive patients than in influenza B negative patients (p < 0.001). CONCLUSIONS: We concluded that LMR and NLR, which had been rarely examined in the literature, had important value in the diagnosis of influenza. However, these values alone were far from being sufficient for the definitive diagnosis of influenza.
Subject(s)
Influenza, Human , Neutrophils , Blood Cell Count , Child , Humans , Influenza, Human/diagnosis , Lymphocytes , Monocytes , Prognosis , Retrospective StudiesABSTRACT
BACKGROUND: The clinical picture of COVID-19 shows significant similarity with influenza. In this study, it was aimed to compare the clinical and laboratory findings between pediatric patients diagnosed with COVID-19 and those with influenza A or B, and to obtain data on the differential diagnosis of COVID-19 from influenza in children. METHODS: The study included 104 patients with COVID-19, 140 patients with influenza A and 135 patients with in-fluenza B (379 patients in total) who were admitted to our tertiary hospital with symptoms of acute respiratory tract infection. RESULTS: Fever, cough, runny nose, and pharyngeal hyperemia rates were significantly lower in patients with COVID-19 than in those with influenza A/B. The highest leukocytosis and lymphocytosis rates were seen in influenza A patients. Eosinophil levels were found significantly lower in the influenza A/B patients compared to the COVID-19 group. C-reactive protein levels were significantly higher in the influenza A/B group when compared with the COVID-19 group. The mean PDW value was significantly higher in the COVID-19 patients compared to influenza A/B. CONCLUSIONS: Our study data show that low body temperature and loss of taste and smell support the diagnosis of COVID-19, and fever, cough, pharyngeal hyperemia, and runny nose support the diagnosis of influenza. While leukocytosis and increased C-reactive protein suggest influenza, high PDW and eosinophil levels support COVID-19.
Subject(s)
COVID-19 , Influenza, Human , Respiratory Tract Infections , Child , Humans , Influenza, Human/diagnosis , Laboratories , SARS-CoV-2ABSTRACT
The case of a 69-year-old man with bilateral synchronous tonsillar carcinoma is reported. The patient complained of nasal closure, strange voice, and discomfort in his pharynx when he was admitted to the Department of Otolaryngology Head and Neck Surgery at Wakayama Medical University, Wakayama, Japan, in March 2017. The palatine tonsils were enlarged and the surface was irregular. Left cervical lymphadenopathy was also evident. Histological examination from both tonsils was performed and bilateral tonsillar squamous cell carcinoma was diagnosed. PCR analysis showed the same HPV-DNA pattern from bilateral tonsils. Concurrent chemoradiotherapy was performed. Total 70 Gy of irradiation (2Gy/day×35 day) was applied to bilateral tonsillar tumours and upper neck. Follow up was conducted every three months and the patient was free of recurrence for three years. Patient's informed consent was taken to publish the case report.
Subject(s)
Alphapapillomavirus , Carcinoma, Squamous Cell , Neoplasms, Multiple Primary , Tonsillar Neoplasms , Aged , Carcinoma, Squamous Cell/therapy , Humans , Male , Palatine Tonsil , Papillomaviridae , Tonsillar Neoplasms/therapyABSTRACT
BACKGROUND: To evaluate the effect of frequency-shifting techniques recently used in hearing aids for speech discrimination scores and hearing thresholds. METHODS: Thirty individuals (16 men and 14 women) with sensorineural hearing loss who used normal fitting monaural hearing aids and frequency-shifting feature for at least 2 months and whose 4000-8000 Hz hearing threshold was over 70 dB participated. The average age was 69.73 ± 10 (range: 65-80 years). We detected the types and degree of each participant's hearing loss. Measurements with and without hearing aids were made in a free field. For speech discrimination scores, 6 listings consisting of 25 monosyllables have been used. It has been avoided to learn words thanks to presentation of words in different listings to subjects. RESULTS: Pure-tone averages of the participants were measured using a supra-aural headphone, normal fitting hearing aid, and frequency-shifting feature. The results were 55.93 ± 6.89, 40.47 ± 5.48, and 36.73 ± 5.72 dB, respectively (pË0.05). Speech discrimination scores for hearing aids worn on the right ear were measured as 67.73 ± 12.42%, 77.33 ± 10.33%, and 82.13 ± 10.46% with supra-aural headphones, normal fitting hearing aids, and frequency-shifting feature, respectively. Scores for hearing aids worn on the left ear were 68 ± 7.56%, 76.80 ± 6.96%, and 82.13 ± 6.67% with supra-aural headphone, normal fitting hearing aid, and frequency-shifting feature, respectively (pË0.05). CONCLUSION: Elderly individuals using hearing aids had low speech discrimination scores. The frequency-shifting feature recently used in hearing aids significantly increased the scores, making a significant contribution to the solution of speech reception and communication problems in cases of high-frequency hearing loss caused by presbyacusis in elderly individuals..
Subject(s)
Deafness , Hearing Aids , Hearing Loss, Sensorineural , Speech Perception , Aged , Audiometry, Pure-Tone , Auditory Threshold , Female , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/therapy , Humans , Male , Middle AgedABSTRACT
BACKGROUND AND OBJECTIVE: Umbilical cord blood which can be obtained by a non-invasive method can be informative about the clinical status of the newborn. It was aimed to establish reference intervals for umbilical cord blood parameters, and to compare complete blood count results between umbilical cord and venous blood samples in this study. METHODS: This study was conducted at Medipol University Sefaköy Hospital, Department of Pediatrics, Istanbul, Turkey. A total of 1898 newborns who were born in a two-year period between January 2018 and December 2019 were included in the study. Venous blood samples were taken from 184 of them, and umbilical cord blood samples were taken from 1714 newborns. RESULTS: The percentiles were determined according to gender and delivery method for the hematological parameters of umbilical cord blood. While mean platelet, eosinophil and mean corpuscular volume values were similar between the groups (p>0.05 for each), and significant differences were found between the groups in terms of all other mean hematological parameters (p<0.05 for each). CONCLUSION: The results of the complete blood count of umbilical cord blood samples can provide reliable information about the newborn. There are significant differences between umbilical cord and venous blood samples in terms of hematological parameters. For these reasons, it is necessary to determine reliable value ranges for umbilical cord blood hematological parameters in newborns. Data of our study can be a guide for further studies and clinicians.
ABSTRACT
BACKGROUND: Intravenous recombinant enzyme replacement therapy (ERT) is currently available for 8 lysosomal diseases. Hypersensitivity reactions (HSRs) may be observed during this long-term treatment. OBJECTIVE: To evaluate the frequency and clinical treatment features of ERT HSRs and the management of desensitizations in children. METHODS: Medical records were reviewed retrospectively for patients who received ERT. Those who had experienced HSRs to ERT were included in the study. The demographic characteristics of the patients, culprit enzyme, signs and symptoms, diagnostic tests, management of the reaction, and the protocol employed for the maintenance of ERT were recorded. RESULTS: During the study period, 54 patients received ERT in our institution. A total of 11 patients (20.4%) experienced HSR to ERT. All reactions were of immediate type. The most common symptoms were cutaneous manifestations. A total of 9 patients experienced urticaria, and 2 had anaphylaxis as initial reaction. Patients who had isolated cutaneous symptoms continued their treatments with antihistamines, corticosteroid premedication, slower infusion rate or both. Patients who had recurrent urticaria with these modalities or those who had anaphylaxis continued their ERT with desensitization (n = 8). A total of 3 patients required revisions in desensitization protocols because of recurrent anaphylaxis. CONCLUSION: The reactions that develop during this long-term treatment may be treated by premedication-prolonged infusion, but in some patients, desensitization protocols are necessary for the continuation of therapy. Revisions in desensitization protocols may be required.
Subject(s)
Desensitization, Immunologic/methods , Drug Hypersensitivity/etiology , Drug Hypersensitivity/immunology , Enzyme Replacement Therapy/adverse effects , Lysosomal Storage Diseases/drug therapy , Child , Female , Humans , Male , Retrospective StudiesABSTRACT
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the cause of coronavirus disease (COVID-19), spreading from Wuhan to worldwide has been emerged since December 2019. Although scientists and researchers have been racing to develop specific therapeutic agents or vaccines against SARS-CoV-2 since the identification of the agent, either a drug or a vaccine has not been approved to treat or to prevent COVID-19 up to date. On the base of historical experiences, Convalescent Plasma (CP), a passive antibody therapy, has been evaluated as a hopeful and potential therapeutic option since the beginning of the COVID-19 outbreak. Immune plasma had been used previously for the treatment of H1N1 influenza virus, SARS-CoV-1 and MERS-CoV epidemics successfully. In this scope competent authorities are responsible to set up certain principles and criteria for the collection and clinical use of COVID-19 Convalescent Plasma (CCP). This document has been prepared to aid both for the convalescent plasma suppliers and the clinicians. The first part encompasses the supply of CCP and the second part lead the clinical use of CCP for the treatment of patients with severe COVID-19 infection. Turkish Ministry of Health developed a guide on collection and clinical use of CCP and created a web-based monitoring system to follow-up the patients treated with convalescent plasma in universal. This follow-up process is thought to be crucial for the creation and development of current and future treatment modalities. This guide would be a pathfinder for clinicians and/or institutions those eager to conduct CCP treatment more effectively.
Subject(s)
COVID-19/therapy , Social Control, Formal , Blood Donors , COVID-19/immunology , Follow-Up Studies , Humans , Immunization, Passive , SARS-CoV-2/physiology , COVID-19 SerotherapyABSTRACT
Hepatic sinusoidal obstruction syndrome (HSOS) is a potentially life-threatening complication of allogeneic hematopoietic stem cell transplantation (allo-HSCT). We retrospectively evaluated the incidence, risk factors, treatment and survival for HSOS after allo-HSCT in Turkey. We also reported our experience of defibrotide (DF) for HSOS prophylaxis in high-risk (HR) patients. Across Turkey, 1153 patients from 10 centers were enrolled in the study. We evaluated the medical records of patients who were treated with allo-SCT between January 2012 and December 2015. The study included 1153 patients (687 males/466 females) with median age of 38 (15-71) years. The incidence of HSOS was 7.5 % (n = 86). The incidences of HSOS in the HR/DF+, HR/DF- and standard risk (SR) group were 8%, 66.7 % and 6.2 %, respectively. The rate of HSOS development was not statistically different between HR/DF + and SR group (p = 0.237). HSOS prophylaxis (defibrotide) was significantly decreased HSOS-related mortality (p = 0.004). The incidence of HSOS was found similar to literature in this large Turkish cohort. Defibrotide prophylaxis appears to be associated with low incidence of HSOS development and reduced HSOS-related mortality. Although these results are promising, future studies are needed to support the efficacy of defibrotide prophylaxis in patients with risk of HSOS.
Subject(s)
Hematopoietic Stem Cell Transplantation/methods , Hepatic Veno-Occlusive Disease/therapy , Transplantation Conditioning/methods , Transplantation, Homologous/methods , Adolescent , Adult , Aged , Female , Humans , Incidence , Male , Middle Aged , Retrospective Studies , Risk Factors , Turkey , Young AdultABSTRACT
PURPOSE: To evaluate the clinical findings and ocular surface changes in patients with ankylosing spondylitis (AS). METHODS: This prospective study involved 45 patients with AS (group 1) and 28 healthy subjects (group 2). Patients in group 1 were in the inactive period. The study subjects underwent a complete ophthalmic examination. The right eyes of the subjects in each group were tested for the study including slit-lamp examination, Schirmer I test, tear break-up time (TBUT), conjunctival impression cytology (CIC), and ocular surface disease index (OSDI). Results between the two groups were compared. RESULTS: The mean Schirmer I test result was found as 12.2±8 mm in group 1 and 20.3±9.9 mm in group 2 (P<0.001), whereas the mean TBUT value was found as 3.8±1.9 sec in group 1 and 10.1±4.8 sec in group 2 (P<0.001). The OSDI scores were significantly higher in group 1 (36.5±19.4) than in group 2 (9.1±12.9, P<0.001). The CIC scores were significantly higher in group 1 (2.12±0.7) than in group 2 (0.57±0.6, P<0.001). Notably, none of the patients in group 1 showed grade 0 differentiation, and none of the patients in group 2 showed grade 2 or 3 differentiation. The CIC scores were significantly higher in group 1 (2.12±0.7) than in group 2 (0.57±0.6, P<0.001). CONCLUSION: Ocular surface changes, including squamous metaplasia in the bulbar conjunctiva, can be observed in patients with AS.
Subject(s)
Conjunctiva/diagnostic imaging , Conjunctival Diseases/diagnosis , Spondylitis, Ankylosing/complications , Tears/metabolism , Adolescent , Adult , Conjunctival Diseases/etiology , Female , Follow-Up Studies , Humans , Male , Middle Aged , Prospective Studies , Slit Lamp Microscopy , Young AdultABSTRACT
OBJECTIVE: To determine the ideal method for postoperative pain management after circumcision by comparing the most frequently used different methods like; dorsal penile block, caudal epidural block, subcutaneous ring block, intravenous paracetamol and intravenous tramadol HCl. METHODS: Between May 1st 2015 to May 1st 2016, 500 children between 2-10 year old were circumcised at the department of pediatric surgery of Istanbul Medipol University Health Care Practice & Research Center Sefakoy Hospital. Five groups were formed according to postoperative analgesia methods which were planned to be compared; Group-I. penile block, Group-II. Caudal epidural block, Group-III. subcutaneous ring block, Group-IV as intravenous paracetamol and Group-V as intravenous tramadol HCl. In order to evaluate the postoperative pain levels of children, Children's Hospital Eastern Ontario Pain Scale (CHEOPS) was filled at 30, 60, 120, 180 minutes after circumcision by a researcher who does not know which method was applied. RESULTS: No significant difference is found between the groups (p>0.05). In the statistical analysis, no significant difference was found in the effect of analgesia methods on CHEOPS scores between 30, 60, 120 and 180 minutes (p>0.05). In parallel with this result, no significant difference was found in the effect of heart beat rates and respiration rate averages between 30, 60, 120 and 180 minutes (p>0.05). CONCLUSION: It has been shown that none of the five method has any superiority in reducing pain after circumcision and that all five methods can be used. However, we think that side effects of regional anesthesia and systemic analgesic applications should not be ignored.
ABSTRACT
BACKGROUND: The argyrophilic proteins of nuclear-organized regions (AgNOR), visualised with colloidal silver methods as black dots are known as AgNOR. To date, the relationship between AgNOR and cancer and inflammatory conditions has been investigated. However, there has been no report investigating the relationship between AgNOR and atopic dermatitis. The aim of this study was to investigate the relationship between atopic dermatitis and AgNOR in paediatric patients. METHODS: Twenty-nine children with atopic dermatitis and 23 healthy children were included in the study. AgNOR test results were analysed prospectively. RESULTS: The mean AgNOR number (40.19 ± 21.06) in the patient group was significantly higher than the control group (12.83 ± 10.40) (P < .001). CONCLUSIONS: This study investigated the association between AgNOR and atopic dermatitis for the first time in the literature. In the study, atopic dermatitis and AgNOR were found to be related. In the study, for the first time with the ROC analysis, AgNOR limit values with high sensitivity and specificity levels were determined in the diagnosis of atopic dermatitis.
Subject(s)
Antigens, Nuclear/metabolism , Dermatitis, Atopic/metabolism , Case-Control Studies , Child, Preschool , Female , Humans , Infant , MaleABSTRACT
BACKGROUND/AIMS: The aim of this study was to observe the relationship between the gene expression profiles of tumor necrosis factor (TNF)-α and endothelin (EDN)-1 and obstructive sleep apnea (OSA). METHODS: A prospective, cross-sectional study performed at a tertiary-care academic center; 108 patients with snoring and day-time sleeplessness were included in this study carried out in the Otolaryngology Department. All patients were evaluated with 1-night polysomnography (PSG). There were 63 patients with OSA and 45 patients without OSA. In the OSA group, the median apnea hypopnea index (AHI) was 29.1; in the non-OSA group, the median AHI was 2.1. Blood samples were obtained from all 108 patients for the genetic analysis of the expression of TNF-α and EDN-1. PSG findings and gene expression levels were evaluated in both groups. RESULTS: The median (range) age was 46 (20-81) years, BMI 24.9 (15-49), EDN-1 gene expression 0.45 (0.02-67.88) pg/µL, and TNF-α gene expression 1.71 (0.08-59.52) pg/µL. We found that EDN-1 and TNF-α gene expression levels were significantly higher in the OSA group than in the control group (p = 0.009 vs. p < 0.001). CONCLUSION: EDN-1 and TNF-α gene expression levels were associated with the occurrence of OSA.
Subject(s)
Endothelin-1/genetics , Sleep Apnea, Obstructive/genetics , Tumor Necrosis Factor-alpha/genetics , Adult , Aged , Aged, 80 and over , Body Mass Index , Case-Control Studies , Cross-Sectional Studies , Endothelin-1/metabolism , Female , Humans , Male , Middle Aged , Polysomnography , Prospective Studies , RNA, Messenger/metabolism , Sleep Apnea, Obstructive/metabolism , Tumor Necrosis Factor-alpha/metabolism , Young AdultABSTRACT
OBJECTIVES: To compare the Neural Response Telemetry (NRT) results of the cochlear implanted children who showed wave 5 and who could not, in preimplantation ABR. MATERIAL AND METHOD: 24 children (11 boys, 13 girls) with bilateral profound sensorineural hearing loss participated in this study. Age of children ranged between 13 and 60 months (mean 30 months). All participated children were implanted with Cochlear® Nucleus brand devices. In preoperative ABR evaluation with click stimulus in 100 dBnHL intensity level, 9 children showed wave V and 15 children did not. We compared intraoperative NRT results of 1st, 6th, 11th, 16th and 22nd electrodes, those were selected from 22 electrodes, of the two groups. RESULTS: There was no statistically significant difference between the children who showed wave V and who did not in preoperative ABR, when compared the intraoperative NRT results of 1st, 6th, 11th, 16th and 22nd electrodes (p>0,05). CONCLUSION: intraoperative NRT was obtained in all the implanted children with bilateral profound sensorineural hearing loss, even if they received wave V or not in preoperative ABR. There was no difference between any of the parameters of the test results of the two groups. Normal NRT results can be achievable when there is no wave V in preoperative ABR.
Subject(s)
Action Potentials , Cochlear Implants , Cochlear Nerve/physiopathology , Evoked Potentials, Auditory, Brain Stem , Hearing Loss, Bilateral/physiopathology , Hearing Loss, Bilateral/rehabilitation , Hearing Loss, Sensorineural/physiopathology , Hearing Loss, Sensorineural/rehabilitation , Telemetry , Child, Preschool , Female , Humans , Infant , Male , Preoperative PeriodABSTRACT
The aim the present study is to evaluate ocular and cervical Vestibular Evoked Myogenic Potentials (VEMPs) of adult individuals with and without tinnitus who have normal hearing. Thirty one patients who have normal hearing, complaining about unilateral or bilateral subjective tinnitus and 30 volunteers who without tinnitus and vestibular complains were enrolled into the present study. Following examination by of Ear Nose Throat (ENT) physician, Tinnitus Disability Questionnaire (TDQ), pure tone audiometry (125-16.000 Hz) speech tests, oVEMP and cVEMP tests were applied to all participants. Fourteen individuals with normal hearing and tinnitus were male (44%) and 17 (56%) were female with an age average of 35.8 ± 10.2.30 years; the control group consisted of 16 males (53%) and 14 females (47%) with an age average of 37.5 ± 12 years. Two individuals of the tinnitus group had bilateral tinnitus and 29 individuals had unilateral tinnitus. A statistically significant difference in individuals without tinnitus and tinnitus must be normal at work between test answers that are not available 125-16000 Hz range Air Conduction (AC) hearing thresholds, speech tests, cVEMP and oVEMP responses. Tinnitus may appear due to many reasons. Vestibular system is one of the conditions that can cause tinnitus. According to the findings obtained from adult individuals with normal hearing, the vestibular system does not cause tinnitus.
Subject(s)
Acoustic Stimulation/methods , Disability Evaluation , Tinnitus/diagnosis , Vestibular Evoked Myogenic Potentials/physiology , Adult , Audiometry, Pure-Tone/methods , Case-Control Studies , Female , Humans , Male , Middle Aged , Prognosis , Reference Standards , Risk Assessment , Severity of Illness Index , Surveys and Questionnaires , Vestibular Function TestsABSTRACT
AIM: Meniere's Disease (MD) is a chronic disease that is characterized by intermittent episodes of tinnitus, vertigo, and progressivefluctuating sensorineural hearing loss together with aural fullness. The aim of this study is to evaluate Meniere's disease patients with vestibular test battery as Videonystagmography (VNG), Vestibular Evoked Myogenic Potentials (VEMPs) and Video Head Impulse Test (V-HIT) to assess peripheral and central vestibular systems. METHODS: 16 bilateral, 17 unilateral patients suffering from MD (mean age, 40.90 years, range, 23 to 66 years; 20 women and 13 men) comprised the study group, and 39 healthy (mean age, 38.10 years, range from 21 to 60 years; 22 women and 17 men) volunteers formed control group. Evaluation of peripheral and central vestibular systems changes with oculomotor tests, caloric test, C-VEMPs, O-VEMPs, and the evaluation of the vestibular ocular reflex (VOR) using the V-HIT. RESULT: Twenty-six ears out of the forty-nine ears that were affected by Meniere's disease were diagnosed as otolith or ampullary dysfunction. As to O-VEMPs testing, N1 and P1 waves could not be obtained from thirty of the forty-nine ears affected by Meniere's disease. As for obtained N1 and P1 waves, prolonged N1 and P1 wave latencies, and reduced amplitude was observed in Meniere's group. P1 and N1 waves were not observed in 5 bilateral and 2 unilateral Meniere's patients (12 ears out of 49 affected ears) in C-VEMPs recordings (23.9%). In Meniere's patients' group, 44.9% of the velocity gain values were obtained in the pathologic borders of v- HIT. In addition to lower velocity gain, higher ratios of asymmetry were obtained from the ears affected with Meniere's disease. CONCLUSION: According to these results, it can be concluded that Meniere's disease significantly affects the peripheral vestibular system but the functions of the central vestibular system were not affected.
Subject(s)
Meniere Disease/diagnosis , Meniere Disease/physiopathology , Vestibular Evoked Myogenic Potentials , Vestibular Function Tests , Adult , Aged , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
PURPOSE: To report changes in subfoveal choroidal thickness (SFCT) using spectral-domain optical coherence tomography following pars plana vitrectomy (PPV) with silicone oil (SiO) endotamponade injection and subsequent removal. METHODS: In this prospective study, 24 eyes of 24 patients with macula-off rhegmatogenous retinal detachment (RD) were included. These patients underwent PPV with SiO injection removal. SFCT measurements were taken 2 weeks and 3 months after PPV and SiO injection and 1 month after SiO removal. The contralateral eyes served as controls. RESULTS: Mean SFCT values of the operated eyes were 294.1 ± 70.5 µm and 282.9 ± 80.6 µm 2 weeks and 3 months after PPV and 264.2 ± 63.3 µm 1 month after SiO removal. There was no significant change in SFCT between first and second measurements (p = 0.96). SFCT decrease was statistically significant when first and last measurements were compared (p = 0.03). SFCT percent change was correlated with duration of SiO in the eye and was not correlated with amount of endolaser photocoagulation performed during surgery. SFCT values of the fellow eyes were 317.1 ± 84.8 µm, 313.7 ± 79.8 µm and 306.1 ± 69.1 µm, at 2 weeks and 3 months after PPV and 1 month after SiO removal, respectively. There was no significant difference between the measurements of the control eyes taken at different time intervals (p = 0.430, p = 0.085, respectively). CONCLUSION: SFCT seems to decrease after the removal of the SiO which indicates that choroidal parameters should be taken into account during or after surgery for rhegmatogenous RD.