scholarly journals Assessment of disability in patients with alkaptonuria

2020 ◽  
Vol 23 (2) ◽  
pp. 42-45
Author(s):  
Alexander V. Kuzin ◽  
Elena M. Zaytseva ◽  
Vera N. Amirdzhanova ◽  
Sergey A. Makarov ◽  
Jahangir S. Agzamov ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Adult Patients ◽  
Study Cohort ◽  
Survey Period ◽  
Disability Group ◽  
Working Age ◽  
Group 2 ◽  
Persistent Disability ◽  
First Time

Background. Alkaptonuria is an orphan, autosomal recessive disease in which clinical symptoms debut in adulthood and are characterized by progressive degenerative changes in large joints (knee, hip, shoulder) and the spine, often leading to the need for joint replacement. Developing changes often lead to persistent disability. The purpose of this study was to evaluate disability among adult patients with alkaptonuria. Materials and methods. The study included 46 adult patients (31 m 67.4% and 15 w 32.6%) with a reliable diagnosis of alkaptonuria at the age of 20 to 76 years (avg age 56.83 10.52). The assessment of the presence of a disability group at the time of patients treatment to a rheumatologist was carried out. Results. It turned out that disability was determined in 34 (75.6%) patients, there were no signs of persistent disability in 11 patients (24.4%). Among the patients who had signs of persistent disability, most often during the survey period, group 2 disability was established (61.8%), the differences between this and other groups were statistically significant (p 0.05). For the first time, disability in the study cohort of patients was established at the age of 31 to 59 years (the average age was 50.83 5.5 years). Conclusions. It is important to note that in the vast majority of cases, persistent disability occurs in patients who were of working age, which underscores the importance of alkaptonuria as a medical and social problem.

scholarly journals Features of Primary Ocular Disability in the Krasnodar Region in 2016–2018

2021 ◽  
Vol 18 (4) ◽  
pp. 955-961
Author(s):  
A. S. Apostolova ◽  
A. V. Malyshev ◽  
A. A. Bashko ◽  
A. A. Sergienko ◽  
E. V. Kudryavceva
Keyword(s):  
Adult Population ◽  
Progressive Increase ◽  
Eye Diseases ◽  
Retirement Age ◽  
Blind And Visually Impaired ◽  
Primary Disability ◽  
Working Age ◽  
Krasnodar Region ◽  
Group 2 ◽  
First Time

Purpose: to study the state and dynamics of changes in primary ocular disability in the period 2016–2018 by nosological forms. A complete retrospective study was made based on the data of the MSE (medical and social expertise) Bureau’s reporting documents. The following indicators of primary disability (per 10 thousand population) were registered from 2016 till 2018: among the adult population (18 years and older) 69,0–70,7–68,6 respectively; among the able-bodied population 42,8–44,1–41,1 respectively; among the population of retirement age — 125,1–126,4–124,6 accordingly. In the structure of primary disability of the adult population by severity for the period 2016–2018, the dynamics recorded an increase in the proportion of 1 group and 3 group with a decrease in the share of disability of 2 group. In the nosological structure of primary disability of the adult population in 2016–2017–2018, eye diseases account for 3 %, 3 % and 3.2 %, respectively, of all first recognized as disabled. There has been an increase in first-time applicants to the MSE Bureau. In the nosological structure of primary disability, the percentage of glaucoma patients over the past period is 47–33–32.5 % of the total number of primary disability for eye diseases, which determines the 1st rank. There is a progressive increase in the number of people with disabilities due to glaucoma of group 1 and group 2 throughout the study period. In the nosological structure of primary disability for 2016–2018 the percentage of patients with retinal diseases is 25–23–23.8 % of the total number of primary disability for eye diseases, which corresponds to the 2nd rank. There is a progressive increase in the number of disabled people in group 2. A low proportion of persons of working age in the structure of primary ocular disability was noted. A consistently high share of primary disability and a progressive increase in severe disability combined with an increase in persons of retirement age in the Krasnodar region forms an unfavorable forecast for an increase in the number of blind and visually impaired residents of the region.

Features of postoperative period in patients with chronic venous insufficiency: phlebectomy versus thermal ablation

2020 ◽  
pp. 64-75
Author(s):  
E. Burleva ◽  
O. Smirnov ◽  
S. Tyurin
Keyword(s):  
Postoperative Period ◽  
Chronic Venous Insufficiency ◽  
Thermal Ablation ◽  
Venous Insufficiency ◽  
Clinical Symptoms ◽  
Varicose Veins ◽  
Statistical Processing ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

The purpose of the study was to conduct a comparative assessment of the course of the postoperative period after phlebectomy and thermal ablation in patients with varicose veins of the lower extremities in the system of the great saphenous vein (GSV) with class C2 of chronic venous insufficiency (CVI) — CEAP class C2. Materials and methods: 455 patients (455 limbs) with CEAP class C2. Group 1 (n = 154) received stripping + minimally invasive phlebectomy; Group 2 — endovenous laser ablation (EVLA) of GSV trunk + sclerotherapy of varicose veins; 3 group (n = 150) — radiofrequency ablation (RFA) of the GSV + sclerotherapy. All patients were united by a single tactical solution — the elimination of pathological vertical reflux in GSV. In each group, patients were with similar hemodynamic profile were selected (Group 1 = 63; Group 2 = 61; Group 3 = 61). The course of the postoperative period (from 2 days to 2 months) was compared for pain (visual analog scale — VAS), clinical symptoms of chronic venous insufficiency, degree of satisfaction (Darvall questionnaire), and duration of disability. Statistical processing was carried out using Excel programs for Windows XP, MedCalc® (version 11.4.2.0., Mariakerke, Belgium). Results: Postoperative pain is more pronounced (during day 1 for Group 1–4.0, Group 2–3.0, Group 3–2.0) and more prolonged (up to 4 days) after open surgeries (p < 0.05). The dynamics of the clinical symptoms of CVI (including varicose syndrome and use of compression therapy) could not be fully evaluated in connection with the ongoing sclerotherapy procedures for patients of Groups 2 and 3. Satisfaction of patients with aesthetic aspects was higher than expected in all groups. Reliable statistical differences proved decrease in days of disability (Group 1–14; Group 2–4; Group 3–3) and earlier return to physical activities and work in patients after thermal ablation in comparison with phlebectomy. Conclusion: The study shows that all three methods for eliminating vertical reflux in the GSV can be proposed for a large category of patients with CEAP of class C3 and C2. Medical and social rehabilitation of patients using endovascular thermal ablation technologies proceeds faster, which is beneficial both for the patients and for society.

scholarly journals Impact of immunogenicity on clinical efficacy and toxicity profile of biologic agents used for treatment of inflammatory arthritis in children compared to adults

2021 ◽  
Vol 13 ◽  
pp. 1759720X2110026
Author(s):  
Chinar R. Parikh ◽  
Jaya K. Ponnampalam ◽  
George Seligmann ◽  
Leda Coelewij ◽  
Ines Pineda-Torra ◽  
...  
Keyword(s):  
Side Effects ◽  
Clinical Efficacy ◽  
Inflammatory Arthritis ◽  
Biologic Agents ◽  
Adult Patients ◽  
Therapeutic Drug ◽  
Biologic Drugs ◽  
Therapeutic Implications ◽  
The Impact ◽  
First Time

The treatment of inflammatory arthritis has been revolutionised by the introduction of biologic treatments. Many biologic agents are currently licensed for use in both paediatric and adult patients with inflammatory arthritis and contribute to improved disease outcomes compared with the pre-biologic era. However, immunogenicity to biologic agents, characterised by an immune reaction leading to the production of anti-drug antibodies (ADAs), can negatively impact the therapeutic efficacy of biologic drugs and induce side effects to treatment. This review explores for the first time the impact of immunogenicity against all licensed biologic treatments currently used in inflammatory arthritis across age, and will examine any significant differences between ADA prevalence, titres and timing of development, as well as ADA impact on therapeutic drug levels, clinical efficacy and side effects between paediatric and adult patients. In addition, we will investigate factors associated with differences in immunogenicity across biologic agents used in inflammatory arthritis, and their potential therapeutic implications.

Patients Who Attend Alone at a First Memory Consultation: Are They a Specific Population,or Is It an Instance of Confounding Bias?

2019 ◽  
Vol 81 (1-2) ◽  
pp. 81-86
Author(s):  
Pierre Koskas ◽  
Mouna Romdhani ◽  
Olivier Drunat
Keyword(s):  
Selection Bias ◽  
Confounding Bias ◽  
Significant Difference ◽  
Comparison Groups ◽  
Methodological Problems ◽  
Group 2 ◽  
The Impact ◽  
First Time ◽  
State Examination ◽  
Group 1

As commonly happens in epidemiological research, none of the reported studies were totally free of methodological problems. Studies have considered the influence of social relationships on dementia, but the mechanisms underlying these associations are not perfectly understood. We look at the possible impact of selection bias. For their first memory consultation, patients may come alone or accompanied by a relative. Our objective is to better understand the impact of this factor by retrospective follow-up of geriatric memory outpatients over several years. All patients over 70 who were referred to Bretonneau Memory Clinic for the first time, between January 2006 and 2018, were included in the study. The patients who came alone formed group 1, the others, whatever type of relative accompanied them, formed group 2. We compared the Mini-Mental State Examination (MMSE) scores of patients; and for all patients who came twice for consultation with at least a 60-day interval, we compared their first MMSE with the MMSE performed at the second consultation. In total, 2,935 patients were included, aged 79.7 ± 8.4 years. Six hundred and twenty-five formed group 1 and 2,310 group 2. We found a significant difference in MMSE scores between the 2 groups of patients; and upon second consultation in group 2, but that difference was minor in group 1. Our finding of a possible confounding factor underlines the complexity of choosing comparison groups in order to minimize selection bias while maintaining clinical relevance.

scholarly journals Outcomes of Endodontic Therapy Comparing Conventional Sodium Hypochlorite Irrigation with Passive Ultrasonic Irrigation Using Sodium Hypochlorite and Ethylenediaminetetraacetate. A Retrospective Analysis

2016 ◽  
Vol 10 (1) ◽  
pp. 375-381 ◽  
Author(s):  
Moritz Hertel ◽  
Katja Sommer ◽  
Eckehard Kostka ◽  
Sandra Maria Imiolczyk ◽  
Husam Ballout ◽  
...  
Keyword(s):  
Sodium Hypochlorite ◽  
Clinical Symptoms ◽  
Treatment Success ◽  
Success Rates ◽  
Chi Square ◽  
Passive Ultrasonic Irrigation ◽  
Ultrasonic Irrigation ◽  
Endodontic Irrigation ◽  
Group 2

The aim of the present study was to investigate the clinical outcomes of two different standardized endodontic irrigation protocols. It was assumed that the additional use of ethylenediaminetetraacetate (EDTA) and passive ultrasonic irrigation (PUI) would result in an increased rate of absence of symptoms and remission based on the periapical index (PAI) compared to passive irrigation using only sodium hypochlorite (NaOCl). Data and radiographs from 199 teeth retrieved from the institutional endodontic database were analyzed retrospectively. In 106 teeth irrigation was performed using only NaOCl (protocol 1). Ninety-three teeth were irrigated using NaOCl and EDTA (protocol 2). Chlorhexidine (CHX) was additionally used in revision treatments in both groups. All irrigants in group 2 were activated by PUI. Mean follow-up periods were: protocol 1 = 9.2 ± 4.4 and protocol 2 = 6.6 ± 2.5 months (p < 0.0001 (chi-square test). The frequencies of the PAImasterpoint and PAIfollow-up scores did not differ significantly between teeth, which received either protocol 1 or 2 (p = 0.555 and 0.138). Statistical analysis revealed no significant association between treatment success (absence of clinical symptoms and PAIfollow-up = I or PAImasterpoint > PAIfollow-up > I) and the applied protocol (success rates: protocol 1 = 72.6% vs. protocol 2 = 82.8%; p = 0.203). Furthermore, the frequency of extractions did not differ significantly between the two protocols (p = 0.102). No association was found between follow-up time and treatment success (p = 0.888). The hypothesis was not confirmed. Even though the obtained success rate was higher after supplementing the irrigation protocol with EDTA and PUI, no significance was recorded. Hence, protocol 2 was not superior to protocol 1 regarding therapy success, at least within the limited follow-up period. It may be cautiously concluded that sufficient mechanical debridement combined with passive NaOCl irrigation results in comparably high success rates compared to EDTA and PUI.

scholarly journals Genetic and Antigenic Characterization of Avian Avulavirus Type 6 (AAvV-6) Circulating in Canadian Wild Birds (2005–2017)

Viruses ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 543
Author(s):  
Tamiko Hisanaga ◽  
Catherine Soos ◽  
Nicola Lewis ◽  
Oliver Lung ◽  
Matthew Suderman ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Fusion Gene ◽  
Full Genome ◽  
Genome Sequences ◽  
Viral Shedding ◽  
Genetic Groups ◽  
Antigenic Characterization ◽  
Specific Pathogen ◽  
First Time

We describe for the first time the genetic and antigenic characterization of 18 avian avulavirus type-6 viruses (AAvV-6) that were isolated from wild waterfowl in the Americas over the span of 12 years. Only one of the AAvV-6 viruses isolated failed to hemagglutinate chicken red blood cells. We were able to obtain full genome sequences of 16 and 2 fusion gene sequences from the remaining 2 isolates. This is more than double the number of full genome sequences available at the NCBI database. These AAvV-6 viruses phylogenetically grouped into the 2 existing AAvV-6 genotype subgroups indicating the existence of an intercontinental epidemiological link with other AAvV-6 viruses isolated from migratory waterfowl from different Eurasian countries. Antigenic maps made using HI assay data for these isolates showed that the two genetic groups were also antigenically distinct. An isolate representing each genotype was inoculated in specific pathogen free (SPF) chickens, however, no clinical symptoms were observed. A duplex fusion gene based real-time assay for the detection and genotyping of AAvV-6 to genotype 1 and 2 was developed. Using the developed assay, the viral shedding pattern in the infected chickens was examined. The chickens infected with both genotypes were able to shed the virus orally for about a week, however, no significant cloacal shedding was detected in chickens of both groups. Chickens in both groups developed detectable levels of anti-hemagglutinin antibodies 7 days after infection.

scholarly journals 440. Clinical Characteristics of Early Noncritical Hospitalized Patients with Coronavirus Disease 2019 (COVID-19): A Single-Center Retrospective Study in New York City

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S287-S288
Author(s):  
Michelle Lee ◽  
Mona Fayad ◽  
Tarub Mabud ◽  
Paulino Tallon de Lara ◽  
Adiac Espinosa Hernandez ◽  
...  
Keyword(s):  
New York ◽  
New York City ◽  
York City ◽  
Clinical Laboratory ◽  
Clinical Symptoms ◽  
New York State ◽  
General Medicine ◽  
Retrospective Chart Review ◽  
Clinical Severity ◽  
Study Cohort

Abstract Background COVID-19 first originated in Wuhan, China, in December 2019. As of April 9, 2020, New York State had become the single largest global epicenter of COVID-19. Methods This is a retrospective chart review of the first 33 patients with RT-PCR-confirmed COVID-19 admitted from the emergency department to a general medicine unit in a single academic hospital in New York City between March 11th to March 27th, 2020. Patient’s demographic, clinical, laboratory, radiographic investigations, treatments and clinical outcomes were retrospectively extracted from the electronic medical record and followed until April 10th, 2020. Patients were divided into severe and nonsevere sub-cohorts. Statistics were descriptive in nature. Results The study cohort (median age 68 yr, 67% male) presented with subjective fevers (82%), cough (88%), and dyspnea (76%). The median incubation period was 3 days. Most cases met SIRS criteria upon admission (76%). Patients had elevated inflammatory markers. Patients were treated with antimicrobials, corticosteroids, hydroxychloroquine, and varying levels of supplemental oxygen. Mortality was 15% and 18% of the cohort required intensive care services. Conclusion Patient age, presenting clinical symptoms, comorbidity profile, laboratory biomarkers, and radiographic features are consistent with findings published from China. Severe patients had peaks in inflammatory biomarkers later in the hospitalization, which may be useful to trend. Further studies are necessary to create guidelines to better risk-stratify COVID-19 patients based on clinical severity. Disclosures All Authors: No reported disclosures

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

Outcomes for working age patients after first-time acute coronary syndrome – ANZACS-QI 35

2020 ◽  
Author(s):  
Nikki J. Earle ◽  
Katrina K. Poppe ◽  
Anna Rolleston ◽  
Gerard Devlin ◽  
Andrew J. Kerr ◽  
...  
Keyword(s):  
Acute Coronary Syndrome ◽  
Coronary Syndrome ◽  
Working Age ◽  
First Time

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.

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