scholarly journals Usher Syndrome

2022 ◽  
Vol 12 (1) ◽  
pp. 42-66
Author(s):  
Alessandro Castiglione ◽  
Claes Möller
Keyword(s):  
Autosomal Recessive ◽  
Usher Syndrome ◽  
Genetic Condition ◽  
Review Reports ◽  
New Treatments ◽  
Loss Of Hearing ◽  
Type 3 ◽  
Autosomal Recessive Pattern

Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.

scholarly journals Gaucher's Disease - A case report

2015 ◽  
Vol 2 (2) ◽  
pp. 130
Author(s):  
Preeti Bajaj ◽  
Jyoti Kasture ◽  
Balbir Singh Shah
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Early Adulthood ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Type 3 ◽  
Storage Disorders

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

FUNCTIONAL STATUS AND ADAPTIVE POTENTIAL IN FOREIGN STUDENTS WITH DIFFERENT TYPES OF VEGETATIVE REGULATION DURING TUITION

2020 ◽  
pp. 118-126
Author(s):  
A.M. Satarkulova
Keyword(s):  
Heart Rate ◽  
Foreign Students ◽  
Autonomic Regulation ◽  
The Body ◽  
Functional Changes ◽  
Different Types ◽  
Type 3 ◽  
Adaptive Abilities

The assessment and dynamic control over students’ status is a very important task. It allows timely detection of prenosological status prior to pathology and health maintenance in students. The objective of the paper is to assess the adaptive abilities of the body, to analyze changes in heart rate variability indicators in students with various types of autonomic regulation, to identify prenosological status and precursory pathological symptoms. Materials and Methods. The study enrolled 302 students from India, aged 21.54±1.43. Programming complex «Psychophysiologist» was used to register the main HRV parameters within 5 minutes. Health status was evaluated according to the index of functional changes and the scale of functional states. Results. N.I. Shlyk (2009) distinguished two groups of students with different types of autonomic regulation: type 1 (53 %) with moderate and type 2 (5 %) with marked characteristics of central regulation profile, type 3 (35 %) with moderate and type 4 (7 %) with marked characteristics of autonomous regulation profile. Main parameters of HRV and adaptation potential were defined for each student.All the parameters characterized functional and health status. Conclusions. It was shown that 82 % of trial subjects (type 1), 53 % (type 2), 94 % (type 3) and 95 % (type 4) demonstrated satisfactory adaptation and their physiological processes were at an optimal level. 18 % of students (type 1) demonstrated reduced adaptive abilities of the body. Moreover, they were under moderate stress. 47 % of subjects (type 2) were also under a significant stress, which was proven by excessively high SI, low SDNN and TP, and an increased index of functional changes. 5 % of students (type 4) revealed dysfunctional characteristics in the heart rhythm, peculiar to pathology. Keywords: foreign students, heart rate variability, types of autonomic regulation, adaptation potential, functional status. Оценка состояния студентов и динамический контроль за ним является важной задачей, поскольку позволяет своевременно выявлять у студентов донозологические состояния, предшествующие патологии, и способствовать сохранению здоровья. Цель. Оценка адаптивных возможностей организма, анализ изменений показателей вариабельности сердечного ритма у студентов с различными типами вегетативной регуляции, выявление донозологических состояний и ранних признаков патологии. Материалы и методы. В исследовании участвовало 302 студента в возрасте 21,54+1,43 года из Индии. Регистрировались основные параметры ВСР в течение 5 мин с использованием программно-аппаратного комплекса «Психофизиолог». Состояние и уровень здоровья оценивались по индексу функциональных изменений и шкале функциональных состояний. Результаты. По способу, предложенному Н.И. Шлык, выделены группы студентов с различными типами вегетативной регуляции: I (53 %) и II типы (5 %) – с умеренным и выраженным преобладанием центрального контура регуляции соответственно, III (35 %) и IV типы (7 %) – с умеренным и выраженным преобладанием автономного контура регуляции соответственно. У каждого из студентов определены основные параметры ВСР и адаптационного потенциала, характеризующие функциональное состояние и уровень здоровья. Выводы. Показано, что для 82 % обследуемых с I типом, 53 % со II типом, 94 % c III типом и 95 % с IV типом регуляции характерно состояние удовлетворительной адаптации, физиологические процессы сохраняются на оптимальном уровне. В группе студентов I типа у 18 % студентов адаптивные возможности организма снижены, выявлено состояние умеренного напряжения. У 47 % обследуемых II типа также зафиксировано состояние резко выраженного напряжения, индикатором которого является чрезмерно высокое значение SI, низкие величины SDNN и ТP, повышенное значение индекса функциональных изменений. В группе студентов с IV типом у 5 % учащихсяв регуляции ритма сердца выявлены дисфункциональные признаки, характерные для патологии. Ключевые слова: иностранные студенты, вариабельность сердечного ритма, типы вегетативной регуляции, адаптационный потенциал, функциональное состояние.

POLIOMYELITIS IN CANADIAN ESKIMOS: LABORATORY STUDIES. V. TYPE 1 AND TYPE 3 POLIOMYELITIS ANTIBODY LEVELS IN BAFFIN ISLAND ESKIMOS

1954 ◽  
Vol 32 (1) ◽  
pp. 119-125
Author(s):  
W. Wood ◽  
Eina M. Clark ◽  
F. T. Shimada ◽  
A. J. Rhodes
Keyword(s):  
Medical Records ◽  
Baffin Island ◽  
Tissue Cultures ◽  
Laboratory Studies ◽  
Poliomyelitis Virus ◽  
Antibody Titers ◽  
Antibody Levels ◽  
Type 3

Studies on the basic immunology of poliomyelitis in Canadian Eskimos have been continued. Some 87 sera collected from Eskimos at Pangnirtung, Baffin Island, have been examined for the presence of Type 1 and Type 3 poliomyelitis antibody by quantitative tests in tissue cultures. The same sera were previously examined for Type 2 antibody by quantitative tests in mice. The results of the three determinations are now presented together for comparison. These sera came from Eskimos aged 2 to 72 years of age. None of the Eskimos showed any evidence of paralysis. Examination of the medical records did not suggest that any paralytic disease had been present in this part of Baffin Island. Very few of the sera showed the presence of poliomyelitis antibody; thus, Type 1 antibody was demonstrated in the sera of 8%, Type 2 antibody in the sera of 9%, and Type 3 antibody in the sera of 14%. No significant number of Eskimos below the age of 45 years had acquired poliomyelitis antibody. The antibody titers mostly ranged between 10−1.0 and 10−2.0, and were significantly lower than the titers customarily found in recently paralyzed cases. These findings suggest that poliomyelitis infection occurred in Pangnirtung Eskimos many years before the date on which the samples were taken (1951). These results point to the worldwide prevalence of the three types of poliomyelitis virus.

Toward Personalized Treatment for Patients with Low von Willebrand Factor and Quantitative von Willebrand Disease

2021 ◽  
Vol 47 (02) ◽  
pp. 192-200
Author(s):  
James S. O'Donnell
Keyword(s):  
Von Willebrand Factor ◽  
Bleeding Risk ◽  
Von Willebrand Disease ◽  
Personalized Treatment ◽  
Treatment Plans ◽  
Type 3 ◽  
Von Willebrand ◽  
Willebrand Factor

AbstractThe biological mechanisms involved in the pathogenesis of type 2 and type 3 von Willebrand disease (VWD) have been studied extensively. In contrast, although accounting for the majority of VWD cases, the pathobiology underlying partial quantitative VWD has remained somewhat elusive. However, important insights have been attained following several recent cohort studies that have investigated mechanisms in patients with type 1 VWD and low von Willebrand factor (VWF), respectively. These studies have demonstrated that reduced plasma VWF levels may result from either (1) decreased VWF biosynthesis and/or secretion in endothelial cells and (2) pathological increased VWF clearance. In addition, it has become clear that some patients with only mild to moderate reductions in plasma VWF levels in the 30 to 50 IU/dL range may have significant bleeding phenotypes. Importantly in these low VWF patients, bleeding risk fails to correlate with plasma VWF levels and inheritance is typically independent of the VWF gene. Although plasma VWF levels may increase to > 50 IU/dL with progressive aging or pregnancy in these subjects, emerging data suggest that this apparent normalization in VWF levels does not necessarily equate to a complete correction in bleeding phenotype in patients with partial quantitative VWD. In this review, these recent advances in our understanding of quantitative VWD pathogenesis are discussed. Furthermore, the translational implications of these emerging findings are considered, particularly with respect to designing personalized treatment plans for VWD patients undergoing elective procedures.

scholarly journals Optimally growing initial errors of El Niño events in the CESM

2021 ◽  
Author(s):  
Hui Xu ◽  
Lei Chen ◽  
Wansuo Duan
Keyword(s):  
El Niño ◽  
El Nino ◽  
Equatorial Pacific ◽  
Initial Error ◽  
Initial Errors ◽  
El Niño Events ◽  
Type 3 ◽  
El Nino Events

AbstractThe optimally growing initial errors (OGEs) of El Niño events are found in the Community Earth System Model (CESM) by the conditional nonlinear optimal perturbation (CNOP) method. Based on the characteristics of low-dimensional attractors for ENSO (El Niño Southern Oscillation) systems, we apply singular vector decomposition (SVD) to reduce the dimensions of optimization problems and calculate the CNOP in a truncated phase space by the differential evolution (DE) algorithm. In the CESM, we obtain three types of OGEs of El Niño events with different intensities and diversities and call them type-1, type-2 and type-3 initial errors. Among them, the type-1 initial error is characterized by negative SSTA errors in the equatorial Pacific accompanied by a negative west–east slope of subsurface temperature from the subsurface to the surface in the equatorial central-eastern Pacific. The type-2 initial error is similar to the type-1 initial error but with the opposite sign. The type-3 initial error behaves as a basin-wide dipolar pattern of tropical sea temperature errors from the sea surface to the subsurface, with positive errors in the upper layers of the equatorial eastern Pacific and negative errors in the lower layers of the equatorial western Pacific. For the type-1 (type-2) initial error, the negative (positive) temperature errors in the eastern equatorial Pacific develop locally into a mature La Niña (El Niño)-like mode. For the type-3 initial error, the negative errors in the lower layers of the western equatorial Pacific propagate eastward with Kelvin waves and are intensified in the eastern equatorial Pacific. Although the type-1 and type-3 initial errors have different spatial patterns and dynamic growing mechanisms, both cause El Niño events to be underpredicted as neutral states or La Niña events. However, the type-2 initial error makes a moderate El Niño event to be predicted as an extremely strong event.

scholarly journals Successful Aging Perception in Middle-Aged Korean Men: A Q Methodology Approach

2021 ◽  
Vol 18 (6) ◽  
pp. 3095
Author(s):  
Mi Hyeon Seong ◽  
Eunyoung Shin ◽  
Sohyune Sok
Keyword(s):  
Successful Aging ◽  
Q Methodology ◽  
Principal Component ◽  
Middle Aged ◽  
Practice Nurses ◽  
Mature Type ◽  
Type 3 ◽  
Family Centered

The purpose of this study is to identify the types of perception of successful aging in middle-aged men and to analyze and describe the characteristics of each type of successful aging perception of middle-aged men in South Korea. This study uses an exploratory study design, applying the Q methodology, which is a subjective research method. The participants were 25 middle-aged men (40 to 60 years old) living in C, Y, and B cities, which were P-samples that were judged to best reveal the successful aging of middle-aged men. In this study, principal component analysis of the PQ method program was used. The five perception types of successful aging among middle-aged men are Type 1 for the “leisure type”, Type 2 for the “mature type”, Type 3 for the “health-oriented type”, Type 4 for the “patriarchal type”, and Type 5 for the “family-centered type”. The mature type had the highest variance among the five types, and the leisure type was the type that showed the second-highest variance. In nursing practice, nurses need to pay attention to the successful aging perceptions of middle-aged Korean men for their successful aging in the future.

scholarly journals The Effect of Coronal Implant Design and Drilling Protocol on Bone-to-Implant Contact: A 3-Month Study in the Minipig Calvarium

Materials ◽  
2021 ◽  
Vol 14 (10) ◽  
pp. 2645
Author(s):  
Omer Cohen ◽  
Dieter D. Bosshardt ◽  
Evegeny Weinberg ◽  
Gil Slutzkey ◽  
Ofer Moses
Keyword(s):  
Implant Design ◽  
Drill Diameter ◽  
Bone To Implant Contact ◽  
Type 3

Stress concentrated at an implant’s neck may affect bone-to-implant contact (BIC). The objective of this study was to evaluate four different implant neck designs using two different drilling protocols on the BIC. Methods: Ninety-six implants were inserted in 12 minipigs calvarium. Implants neck designs evaluated were: type 1–6 coronal flutes (CFs), 8 shallow microthreads (SMs); type 2–6 CFs,4 deep microthreads (DMs); type 3–4 DMs; type 4–2 CFs, 8 SMs. Two groups of forty-eight implants were inserted with a final drill diameter of 2.8 mm (DP1) or 3.2 mm (DP2). Animals were sacrificed after 1 and 3 months, total-BIC (t-BIC) and coronal-BIC (c-BIC) were evaluated by nondecalcified histomorphometry analysis. Results: At 1 month, t-BIC ranged from 85–91% without significant differences between implant types or drilling protocol. Flutes on the coronal aspect impaired the BIC at 3 m. c-BIC of implant types with 6 CFs was similar and significantly lower than that of implant types 3 and 4. c-BIC of implant type 4 with SMs was highest of all implant types after both healing periods. Conclusions: BIC was not affected by the drilling protocol. CFs significantly impaired the -BIC. Multiple SMs were associated with greater c-BIC.

scholarly journals Challenge of diabetes mellitus and researchers’ contributions to its control

2021 ◽  
Vol 19 (1) ◽  
pp. 614-634
Author(s):  
Ayodele T. Odularu ◽  
Peter A. Ajibade
Keyword(s):  
Diabetes Mellitus ◽  
Medical Records ◽  
Diabetes Type ◽  
Future Studies ◽  
The Past ◽  
Significant Events ◽  
Review Study ◽  
Type 3

Abstract The aim of this review study was to assess the past significant events on diabetes mellitus, transformations that took place over the years in the medical records of treatment, countries involved, and the researchers who brought about the revolutions. This study used the content analysis to report the existence of diabetes mellitus and the treatments provided by researchers to control it. The focus was mainly on three main types of diabetes (type 1, type 2, and type 3 diabetes). Ethical consideration has also helped to boost diabetic studies globally. The research has a history path from pharmaceuticals of organic-based drugs to metal-based drugs with their nanoparticles in addition to the impacts of nanomedicine, biosensors, and telemedicine. Ongoing and future studies in alternative medicine such as vanadium nanoparticles (metal nanoparticles) are promising.

Research on Effect of Alloy Elements on Equilibrium and Properties of Ni-Cr-Co Type Nickel-Based Superalloy

2016 ◽  
Vol 849 ◽  
pp. 513-519
Author(s):  
Qing Quan Zhang ◽  
Ming Yang Li ◽  
Ran Wei ◽  
Hui Yun Wu ◽  
Zhen Rui Li
Keyword(s):  
High Temperature ◽  
Room Temperature ◽  
High Temperature Strength ◽  
Nickel Based Superalloy ◽  
Type 3 ◽  
Room Temperature Strength ◽  
Super Alloy ◽  
Type Nickel

Ni-Cr-Co type Nickel-based super alloy Inconel 740H was studied. The effect of Nb, Al and Ti on the equilibrium of this alloy was analyzed by JMatPro software. The amount of Ti and Nb should be controlled by 1.50wt.%, and meanwhile, Al should be 1.0-2.0wt.%. If Mo and W were added the amount of Mo should be in the range of 1.0-2.0wt. %, and W should be about 1.0wt.%. Based on these results, three types of new alloys were designed, which contain Ni-Cr-Co-Mo type (1#), Ni-Cr-Co-W type (2#) and Ni-Cr-Co-Mo-W type (3#). Compared with the Ni-Cr-Co type Inconel 740H alloy, the room temperature strength, high temperature strength and high temperature durable performance of the three new alloys improved, which can provide the evidence and reference to optimize the chemical composition of Inconel 740H alloy, i.e., adding 1.50wt.% Mo and 1.0wt.% W individually or together.

scholarly journals Response of Pea Varieties to Damage Degree of Pea Weevil,Bruchus pisorumL.

Scientifica ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Ivelina Mitkova Nikolova
Keyword(s):  
Crop Yields ◽  
Egg Laying ◽  
Breeding Programs ◽  
Good Opportunity ◽  
Damage Degree ◽  
Field Germination ◽  
Type 3 ◽  
Emergence Hole

A study was conducted to determine the response of five pea varieties (Pisum sativumL.) to damage degree ofBruchus pisorum: Glyans, Modus, Kamerton, and Svit (Ukrainian cultivars) and Pleven 4 (Bulgarian cultivar). The seeds were classified into three types: healthy seeds (type 1), damaged seeds with parasitoid emergence hole (type 2), and damaged seeds with bruchid emergence hole (type 3) and they were sown. It was found that the weight of 1000 seeds did not affect the field germination of the pea varieties. Healthy and damaged seeds with parasitoid emergence holes (first and second seed types) provide a very good opportunity for growth and development while plants from damaged seeds with bruchid emergence holes had poor germination and vigor and low productivity. These seeds cannot provide the creation of well-garnished seeding and stable crop yields. Among tested varieties, the Ukrainian variety Glyans had considerably higher seed weight, field germination, and index germination and weak egg-laying activity ofB. pisorumcompared to others. Use of spring pea cultivars that are weakly preferred by the pea weevil in breeding programs would reduce losses due to pea weevil and provide an environmentally safer option to its control.

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