Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

2021 ◽  
pp. 105566562110381
Author(s):  
Naz Güleray ◽  
Can Koşukcu ◽  
Sümeyra Oğuz ◽  
Gizem Ürel Demir ◽  
Ekim Z. Taşkıran ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Elongation Factor ◽  
Copy Number Variant ◽  
University Hospital ◽  
High Rate ◽  
Study Cohort ◽  
Genetic Etiology ◽  
Skin Tag ◽  
Oculoauriculovertebral Spectrum ◽  
Sequencing Studies

Objective Oculoauriculovertebral spectrum (OAVS) is a genetically and clinically heterogeneous disorder that occurs due to a developmental field defect of the first and second pharyngeal arches. Even though recent whole exome sequencing studies (WES) have led to identification of several genes associated with this spectrum in a subset of individuals, complete pathogenesis of OAVS remains unsolved. In this study, molecular genetic etiology of OAVS was systematically investigated. Design/Setting/Patients A cohort of 23 Turkish patients with OAVS, referred to Hacettepe University Hospital, Department of Pediatric Genetics from 2008 to 2018, was included in this study. Minimal diagnostic criteria for OAVS were considered as unilateral microtia or hemifacial microsomia with preauricular skin tag. The cohort was clinically reevaluated for craniofacial and extracranial findings. Molecular etiology was investigated using candidate gene sequencing following copy number variant (CNV) analysis. WES was also performed for 2 of the selected patients. Results Patients in the study cohort presented similar demographic and phenotypic characteristics to previously described patients in the literature except for a higher frequency of bilaterality, cardiac findings, and intellectual disability/developmental delay. CNV analysis revealed a possible genetic etiology for 3 patients (13%). Additional WES in 1 of the 2 patients uncovered a novel heterozygous nonsense variant in Elongation factor Tu GTP-binding domain-containing 2 ( EFTUD2) causing mandibulofacial dysostosis with microcephaly (MFDM), which clinically overlaps with OAVS. Conclusion Detailed clinical evaluation for any patient with OAVS is recommended due to a high rate of accompanying systemic findings. We further expand the existing genetic heterogeneity of OAVS by identifying several CNVs and a phenotypically overlapping disorder, MFDM.

STUDY ON CLINICAL CHARACTERISTICS AND RESULT OF TREATMENT BENIGN VOCAL CORD TUMOR WITH RIGID LARYNGEAL ENDOSCOPIC SURGERY

2012 ◽  
pp. 58-65
Author(s):  
Duy Thai Truong ◽  
Van Dung Phan ◽  
Tu The Nguyen
Keyword(s):  
Vocal Cord ◽  
Endoscopic Surgery ◽  
Clinical Characteristics ◽  
University Hospital ◽  
High Rate ◽  
Treatment Rate ◽  
Reinke’S Edema ◽  
Vocal Nodules ◽  
A Prospective Study

Objective: Study on clinical characteristics and result of treatment benign vocal cord tumor with suspensive laryngeal endoscopic surgery. Materials and Methods: A prospective study was undertaken in 43 patients who had benign vocal cord tumor and performed a suspensive laryngeal endoscopic surgery at ENT Dept. of Hue University Hospital, from 3/2010 to 5/2011. Results: The most common was group was 31 - 45 (44.2%). There was no difference of gender. Moderate hoarness was 67.4%. Classification of benign laryngeal tumor: vocal nodules (13 cases), vocal cyst (18 cases), vocal polyp (10 cases) and Reinke’s edema (2 cases). The successful treatment rate of vocal benign tumor was 88.4%. Conclusions: Suspensive laryngeal endoscopic surgery was the best method to cure benign vocal cord tumor. The surgeon had a clear operative field, easy manoeuver, high rate of cure and less complication.

INTESTINAL PARASITE INFECTION IN HUE UNIVERSITY HOSPITAL IN 2013-2014 BY DIRECT EXAMINATION AND IMMUNOLOGICAL DIAGNOSTICS

2016 ◽  
pp. 105-111
Author(s):  
Nu Phuong Anh Ton ◽  
Thi Minh Chau Ngo
Keyword(s):  
Intestinal Parasite ◽  
Intestinal Parasites ◽  
Clonorchis Sinensis ◽  
Taenia Solium ◽  
University Hospital ◽  
High Rate ◽  
Intestinal Helminth ◽  
Direct Examination ◽  
Life Condition ◽  
Parasite Infections

Introduction: Intestinalparasite infections still are very common in tropical country such as Vietnam. Therefore evaluation of the prevalence of them should be done. Materials and methods: A crosssectional descriptivestudy were carried out to use the wet mount direct examination, Kato and ELISA technique for evaluation the rate of intestinal parasite infections, interviewed them to reveal their life’s hygenic condition, knowledge and risk behaviour of intestinal parasite infections in 640 patients attending to the in Hue University of hospital. Result: The rate of soiltransmitted intestinal helminth were lower than the foodborne infection of cestode and trematode such as: Taenia solium/saginata 3.64%, Clonorchis sinensis 2.73%. The rate of positive antibody of rare intestinal parasite were Fasciola gigantica 40.68%, E. histolytica/dispar 43.75%, Toxocara canis 32.43%, Gnasthostoma spinigerum 37.5%, Taenia solium 51.43%, Strongyloidesstercoralis 16.67%. Most of people has hygenic life condition with hygenic water available. The popular knowledge of intestinal parasite diseases of transmission, pathology, prevention and treatment were concentrate on oiltransmittedintestinal helminth.There were high rate of platyhelminths infectious behaviourssuch as: eating raw water plant 75.6%, eating raw beef 80.6%, eating raw pork 72.2%, eating raw fish 11.8%, bare foot 34.2%. Conclusions: The result of our study showed that the higher rate of foodborne cestode and trematode than soiltransmittedhelminth correspond tothe hygenic life condition, the knowledge of the diseases and risk behavior of intestinal parasites infection. Key words: Helminth, cestode, trematode

scholarly journals The Prognostic Role of LRIG Proteins in Endometrial Cancer

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1361
Author(s):  
Zoia Razumova ◽  
Husam Oda ◽  
Igor Govorov ◽  
Eva Lundin ◽  
Ellinor Östensson ◽  
...  
Keyword(s):  
Overall Survival ◽  
Endometrial Cancer ◽  
Prognostic Factor ◽  
Confidence Interval ◽  
Initial Study ◽  
Surface Proteins ◽  
University Hospital ◽  
Study Cohort ◽  
Risk Of Death

Endometrial cancer (EC) is the most common gynecologic malignancy in Sweden and it has various prognostic factors. The LRIG family is a group of three integral surface proteins with a similar domain organization. The study aimed to explore LRIG family as prognostic factor proteins in EC. The initial study cohort included 100 women with EC who were treated at the Department of Women’s and Children’s Health, Karolinska University Hospital Solna, between 2007 and 2012. We assessed the associations between LRIG protein expression and type, grade, and stage of EC, as well as progression-free and overall survival. Immunohistochemistry results revealed that most women in the analytical sample had >50% LRIG1-, LRIG2- and LRIG3-positive cells. A statistically significant association was observed between having a high number of LRIG3-positive cells and superior overall survival (incidence rate ratio = 0.977; 95% confidence interval: 0.958–0.996, p = 0.019). Moreover, positive LRIG3 staining of the cell membrane was associated with reducing in the risk of death (hazard ratio = 0.23; 95% confidence interval: 0.09–0.57). Our results show that LRIG3 expression might be a prognostic factor in EC. The role of LRIG1 and LRIG2 expression remains to be further investigated.

Changes in the rate of prophylactic vena cava filter insertion at a university hospital

2015 ◽  
Vol 31 (6) ◽  
pp. 403-408
Author(s):  
Andrew Smith ◽  
Demetri Adrahtas ◽  
Doreen Elitharp ◽  
Antonios Gasparis ◽  
Nicos Labropoulos ◽  
...  
Keyword(s):  
Vena Cava ◽  
Vena Cava Filter ◽  
University Hospital ◽  
High Rate ◽  
Inappropriate Use ◽  
Surgical Critical Care ◽  
Change In Practice ◽  
Filter Insertion ◽  
Level I ◽  
Second Period

Objective We previously demonstrated a high rate of prophylactic vena cava filter (VCF) insertion at our institution. We have since attempted to restrict the use of VCF to indications supported by Level-I evidence. This study was designed to evaluate the success of our interventions. Methods All patients receiving VCF between 2007–2009 and 2012–2014 at a university hospital were reviewed. After assessing the use of VCF in the first period, a meeting was convened among the Departments of Radiology, Vascular Surgery and Trauma. Policy was implemented to avoid the inappropriate use of VCF. Data were prospectively collected in the second period to assess the effect of our intervention. Results There were 156 VCF placed from 2012 to 2014. VCF was absolutely indicated in 84% of cases, relatively indicated in 9% and prophylactic in 7%. These data contrast our previous experience from 2007 to 2009. In the earlier series, a total of 244 filters were placed, in which 54% of patients had an absolute indication, 14% relative, and 32% prophylactic. There was a significant decrease in filters placed for pure prophylaxis: whereas 76 prophylactic filters were placed between 2007 and 2009, only 11 were placed between 2012 and 2014 ( p < 0.0001). No significant differences existed for relatively indicated filters. The department of trauma and surgical critical care (TSCC) observed the most dramatic change in practice. TSCC placed 61 prophylactic VCF between 2007 and 2009 (57% of all filters placed by the department), and 4 prophylactic VCF from 2012 to 2014 (15% of filters placed by TSCC) ( p < 0.0001). Conclusion These findings demonstrate a significant change in the attitudes regarding prophylactic VCF insertion between the two periods of study. Further investigations must be performed to assess changes in clinical outcomes that may result from the altered practice at our university.

scholarly journals Tumor-Associated Trypsin Inhibitor (TATI) as a Biomarker of Poor Prognosis in Oropharyngeal Squamous Cell Carcinoma Irrespective of HPV Status

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2811
Author(s):  
Anni Sjöblom ◽  
Ulf-Håkan Stenman ◽  
Jaana Hagström ◽  
Lauri Jouhi ◽  
Caj Haglund ◽  
...  
Keyword(s):  
Trypsin Inhibitor ◽  
Poor Prognosis ◽  
Tissue Expression ◽  
University Hospital ◽  
Study Cohort ◽  
Hpv Dna ◽  
P16 Immunohistochemistry ◽  
Tumor Tissues ◽  
Hpv Status ◽  
Survival Endpoints

Background: We studied the role of tumor-associated trypsin inhibitor (TATI) in serum and in tumor tissues among human papillomavirus (HPV)-positive and HPV-negative OPSCC patients. Materials and methods: The study cohort included 90 OPSCC patients treated at the Helsinki University Hospital (HUS), Helsinki, Finland, in 2012–2016. TATI serum concentrations (S-TATIs) were determined by an immunofluorometric assay. Immunostaining was used to assess tissue expression. HPV status was determined with a combination of p16 immunohistochemistry and HPV DNA PCR genotyping. The survival endpoints were overall survival (OS) and disease-specific survival (DSS). Results: A significant correlation was found between S-TATI positivity and poor OS (p < 0.001) and DSS (p = 0.04) in all patients. In HPV-negative cases, S-TATI positivity was linked to poor OS (p = 0.01) and DSS (p = 0.05). In HPV-positive disease, S-TATI positivity correlated with poor DSS (p = 0.01). S-TATI positivity was strongly associated with HPV negativity. TATI serum was negatively linked to a lower cancer stage. TATI expression in peritumoral lymphocytes was associated with favorable OS (p < 0.025) and HPV positivity. TATI expression in tumor and in peritumoral lymphocytes correlated with lower cancer stages. Conclusion: Our results suggest that S-TATI positivity may be a biomarker of poor prognosis in both HPV-positive and HPV-negative OPSCC.

Perceptions, Attitudes and Use of Pharmacy Customers to Medicine Labels

2021 ◽  
pp. 58-70
Author(s):  
Eman Elmahjoubi ◽  
Mufida Yamane
Keyword(s):  
Structured Interview ◽  
University Hospital ◽  
High Rate ◽  
Foreign Languages ◽  
Local Study ◽  
The Public ◽  
Interview Technique ◽  
Written Information ◽  
Awareness Programs ◽  
The University

Background. The safe use of medicines largely relies on consumers reading the labeling and packaging carefully and accurately, and being able to comprehend and act on the information presented. We aimed to conduct local study on consumers’ perceptions, attitudes and use of written drug information. Methods. A survey included 200 adults of the public in 13 community pharmacies and one main hospital (the University Hospital) in Tripoli city of Libya, using a structured interview technique. Results. The results showed that 73% of participants read drug labels with variation from always (39.72 %) to rarely (10.95%). About 42.46% of pharmacy customers read the Patients Package Inserts (PPIs) routinely, however; 53.42% of them faced difficulties in understanding the labelling. Foreign languages and small font sizes of written information were the most barriers to participants` comprehensibility (44.69 %, 34%) respectively. The findings indicated that 59 % of the respondents were used to obtain information from pharmacists. Despite the relatively high rate of reading to drug labels among pharmacy customers; more than half of them were unable to interpret information correctly. Conclusion. The study demonstrated the need for the implementation of educational and awareness programs for patients by pharmacists to improve the health literacy of medication labels. Steps must be taken to ensure that medicines in Libyan market are supplied with bilingual and non-technical language labels.

scholarly journals Treatment of Anorexia Nervosa: The Importance of Disease Progression in the Prognosis

2017 ◽  
Vol 30 (7-8) ◽  
pp. 517
Author(s):  
Rodrigo Andrade ◽  
Manuel Gonçalves-Pinho ◽  
António Roma-Torres ◽  
Isabel Brandão
Keyword(s):  
Anorexia Nervosa ◽  
Dropout Rate ◽  
University Hospital ◽  
High Rate ◽  
Prognostic Features ◽  
Illness Duration ◽  
Intense Fear ◽  
Life Threatening ◽  
Fear Of Weight Gain ◽  
The Impact

Introduction: Anorexia nervosa is a severe, usually chronic, life-threatening disease of complex etiology characterized by food restriction, overestimation of the importance of body weight and image, intense fear of weight gain and distortion of body image. Anorexia nervosa is associated with high rates of mortality, suicide and decreased quality of life. Our aim is to present an anorexia nervosa treatment program offered in a major university hospital in Portugal, and to determine the impact of illness duration before admission on the outcome. Our hypothesis is that patients with greater disease longevity may have worse prognosis and poorer outcome.Material and Methods: The sample included data from case records of 169 patients seen consecutively and for the first time at Centro Hospitalar São João, between 2010 and 2015. We performed a retrospective observational study which included data collected at admission and from later follow-up years.Results: From the initially selected patients, 14.8% reached total remission, 16% accomplished partial remission and 14.2% ended up with exacerbation/stagnation of the disease. The dropout rate was of 55% throughout our study period. We found significant differences on outcome rates between distinct illness duration groups (p = 0.007).Discussion: There are several factors frequently associated with poor outcome for anorexia nervosa. The interpretation of outcome findings was limited by the high rate of dropout and lack of consistent definition criteria.Conclusion: Our results support the idea that illness duration has an important role on the outcome and prognostic features of these patients.

scholarly journals Circulating Heme Oxygenase-1: Not a Predictor of Preeclampsia but Highly Expressed in Pregnant Women Who Subsequently Develop Severe Preeclampsia

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Valéria C. Sandrim ◽  
Mayara Caldeira-Dias ◽  
Heloisa Bettiol ◽  
Marco Antonio Barbieri ◽  
Viviane Cunha Cardoso ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Heme Oxygenase ◽  
Clinical Symptoms ◽  
Severe Preeclampsia ◽  
Urine Samples ◽  
University Hospital ◽  
Enzyme Linked Immunosorbent Assay ◽  
Heme Oxygenase 1 ◽  
Study Cohort ◽  
Potential Biomarker

Preeclampsia is the major cause of maternal and fetal deaths worldwide. Circulating biomarker concentrations to predict preeclampsia must be determined. Therefore, the objective was to evaluate heme oxygenase-1 (HO-1) concentration in both plasma and urine samples from pregnant women before the development of preeclampsia and to identify a potential biomarker for preeclampsia development. We performed a case-control study nested in a prospective study cohort at University Hospital of the Ribeirao Preto Medical School, University of São Paulo (HCFMRP-USP), Ribeirao Preto, Brazil. Of 1400 pregnant women evaluated at 20–25 weeks of gestation, 460 delivered in hospitals outside our institution. Of 940 pregnant women who completed the protocol, 30 developed preeclampsia (cases, 14 cases of severe preeclampsia and 16 cases of mild preeclampsia). Healthy pregnant women (controls, n=90) were randomly selected from the remaining 910 participants. HO-1 concentration was evaluated in plasma/urine samples by using a commercial enzyme-linked immunosorbent assay kit. We found similar HO-1 levels in the plasma and urine for case and control groups. In the subgrouped preeclampsia, lower plasma HO-1 levels were found in mild compared with severe preeclampsia. We conclude that plasma HO-1 levels were not altered at 20–25 weeks of gestation before the manifestation of preeclampsia symptoms. Pregnant women who subsequently develop severe preeclampsia show higher expression of HO-1. This may be indicative of important underlying pathophysiologic mechanisms that differentiate between mild and severe preeclampsia and may possibly be related to a higher prooxidative status even before the development of clinical symptoms.

Prevalence of Helicobacter pylori infection among blood donors in Saxony-Anhalt, Germany – a region at intermediate risk for gastric cancer

2017 ◽  
Vol 55 (07) ◽  
pp. 653-656 ◽  
Author(s):  
Caspar Franck ◽  
Armin Hoffmann ◽  
Alexander Link ◽  
Christian Schulz ◽  
Kerstin Wuttig ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Helicobacter Pylori ◽  
Blood Donors ◽  
Eradication Therapy ◽  
Surrogate Marker ◽  
University Hospital ◽  
Study Cohort ◽  
Emergency Ward ◽  
Age Related ◽  
H Pylori

Abstract Background In the federal state of Saxony-Anhalt, gastric cancer (GC) incidence ranks among the highest in Germany. Helicobacter pylori prevalence is a surrogate marker for GC risk in a given population. In 2010 we reported an H. pylori seroprevalence of 44.4 % in patients at the emergency ward of the University Hospital of Magdeburg, the capital of Saxony-Anhalt. Our aim is to update these findings in a cohort of healthy blood donors from the same region. Materials and methods The sera of 516 consecutive blood donors (40.1 ± 14.1 years; 286 males and 230 females) were tested for antibodies against H. pylori and CagA. Data on demographics and previous H. pylori eradication therapy were obtained by means of a structured questionnaire. Blood donors with positive serology for H. pylori or CagA and/or history of eradication therapy were classified as H. pylori-positive. Results Overall, 28.9 % of the study cohort were H. pylori-positive. The prevalence was higher in older generations (9 % in 18 – 20 years up to 47 % in 61 – 70 years). In 44.4 % of H. pylori IgG-positive donors, CagA serology was also positive. This proportion was not age-dependent. Study participants with siblings were by trend more often H. pylori-positive (p = 0.066). Conclusion Compared to our previous study in patients at the emergency ward, we found by trend lower age-related H. pylori prevalence rates. In our cohort of healthy blood donors, we confirmed a lower H. pylori prevalence in younger generations.

scholarly journals Development and evaluation of the focused assessment of sonographic pathologies in the intensive care unit (FASP-ICU) protocol

Critical Care ◽  
2021 ◽  
Vol 25 (1) ◽  
Author(s):  
Stefan Schmidt ◽  
Jana-Katharina Dieks ◽  
Michael Quintel ◽  
Onnen Moerer
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Conclusive Evidence ◽  
Rate Of Change ◽  
University Hospital ◽  
High Rate ◽  
Whole Body ◽  
Routine Surveillance ◽  
Organ Systems ◽  
Training Schemes

Abstract Background The use of ultrasonography in the intensive care unit (ICU) is steadily increasing but is usually restricted to examinations of single organs or organ systems. In this study, we combine the ultrasound approaches the most relevant to ICU to design a whole-body ultrasound (WBU) protocol. Recommendations and training schemes for WBU are sparse and lack conclusive evidence. Our aim was therefore to define the range and prevalence of abnormalities detectable by WBU to develop a simple and fast bedside examination protocol, and to evaluate the value of routine surveillance WBU in ICU patients. Methods A protocol for focused assessments of sonographic abnormalities of the ocular, vascular, pulmonary, cardiac and abdominal systems was developed to evaluate 99 predefined sonographic entities on the day of admission and on days 3, 6, 10 and 15 of the ICU admission. The study was a clinical prospective single-center trial in 111 consecutive patients admitted to the surgical ICUs of a tertiary university hospital. Results A total of 3003 abnormalities demonstrable by sonography were detected in 1275 individual scans of organ systems and 4395 individual single-organ examinations. The rate of previously undetected abnormalities ranged from 6.4 ± 4.2 on the day of admission to 2.9 ± 1.8 on day 15. Based on the sonographic findings, intensive care therapy was altered following 45.1% of examinations. Mean examination time was 18.7 ± 3.2 min, or 1.6 invested minutes per detected abnormality. Conclusions Performing the WBU protocol led to therapy changes in 45.1% of the time. Detected sonographic abnormalities showed a high rate of change in the course of the serial assessments, underlining the value of routine ultrasound examinations in the ICU. Trial registration The study was registered in the German Clinical Trials Register (DRKS, 7 April 2017; retrospectively registered) under the identifier DRKS00010428.

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