scholarly journals Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

2006 ◽  
Vol 6 ◽  
pp. 1517-1541 ◽  
Author(s):  
Meir Lotan ◽  
Bruria Ben-Zeev
Keyword(s):  
Down Syndrome ◽  
Present Article ◽  
Rett Syndrome ◽  
Current Literature ◽  
Clinical Characteristics ◽  
Genetic Disorder ◽  
Linked Gene ◽  
Classical Expression ◽  
Basic Understanding ◽  
The Individual

Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population.

scholarly journals Rett Syndrome. Guidelines for Individual Intervention

2006 ◽  
Vol 6 ◽  
pp. 1504-1516 ◽  
Author(s):  
Meir Lotan
Keyword(s):  
Down Syndrome ◽  
Functional Status ◽  
Present Article ◽  
Rett Syndrome ◽  
Therapeutic Intervention ◽  
Neurological Disorder ◽  
Intervention Program ◽  
Well Being ◽  
Neurological Dysfunction ◽  
Common Intervention

Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome. Patients with RS are characterized by an array of neurological and orthopedic difficulties that mandate an intensive therapeutic intervention program for the duration of the individual's life. Many aspects of the client’s well-being and functional status depend on the therapeutic intervention she receives and on her compliance to it. This article will briefly review common intervention approaches for individuals with RS and their present day's application. Due to the notion that individual intervention is the foundation on which progress and development of the functional gains rests, the present article will place basic guidelines for individual intervention with clients with RS. The article is mainly based on the clinical experience of the author and others working with individuals with RS.

Field Dependence and Psychological Differentiation: Reexamination

1972 ◽  
Vol 35 (1) ◽  
pp. 179-189 ◽  
Author(s):  
Paul L. Wachtel
Keyword(s):  
Individual Differences ◽  
Field Dependence ◽  
Current Literature ◽  
Comprehensive Approach ◽  
Laboratory Research ◽  
Psychological Differentiation ◽  
Personality Differences ◽  
Basic Understanding ◽  
The Individual

The concepts of field dependence and psychological differentiation have provided an extremely valuable link between theories of personality and psychopathology and laboratory research on perception and cognition. However, confusion between test and construct and failure to control adequately for intelligence have made it difficult to assess the limits of the concept of differentiation. Further, basic understanding of the nature of the individual differences observed has been hampered by insufficient efforts to distinguish between personality differences stemming from differences in ability and those stemming from differences in adaptive choices and strategies. The present paper examines these issues as they are reflected in the current literature and attempts to point toward a more comprehensive approach to research in this area.

AAC Supports for Individuals With Rett Syndrome Across the Lifespan

2015 ◽  
Vol 24 (3) ◽  
pp. 74-85
Author(s):  
Sandra M. Grether
Keyword(s):  
Rett Syndrome ◽  
Communication Skills ◽  
Preliminary Analysis ◽  
Multidisciplinary Approach ◽  
Motor Deficits ◽  
Complex Profile ◽  
Communication Behaviors ◽  
The Individual

Individuals with Rett syndrome (RS) present with a complex profile. They benefit from a multidisciplinary approach for diagnosis, treatment, and follow-up. In our clinic, the Communication Matrix © (Rowland, 1990/1996/2004) is used to collect data about the communication skills and modalities used by those with RS across the lifespan. Preliminary analysis of this data supports the expected changes in communication behaviors as the individual with RS ages and motor deficits have a greater impact.

Entre o mestre e o discípulo nas Migalhas Filosóficas: a existência educadora em Kierkegaard

2018 ◽  
Vol 11 (1) ◽  
pp. 155-174
Author(s):  
Fransmar Costa Lima
Keyword(s):  
Present Article ◽  
Rio De Janeiro ◽  
Research Study ◽  
Buenos Aires ◽  
Soren Kierkegaard ◽  
Sao Paulo ◽  
São Paulo ◽  
Basic Point ◽  
The Individual

Resumo: O artigo que ora se apresenta é, na realidade, um pequeno ensaio que tem por finalidade indagar a importância da educação no pensamento de Søren Kierkegaard e investigar se, no âmbito da existência como possibilidade, uma educação voltada para a subjetividade se mostra efetiva diante dos debates acerca da liberdade e da singularidade do indivíduo. Pouco se debate sobre o conceito de educação em Kierkegaard, porém, acreditamos que se trata de um ponto basilar no pensamento do filósofo dinamarquês, conforme buscamos demonstrar, e deve ser objeto de maiores pesquisas, estudos e reflexões. Tomamos como referência para o início desse debate textos como as Migalhas Filosóficas e o Post-Scriptum, onde a subjetividade e a singularidade aparecem como conceitos fundamentais.Palavras-chave: Educação. Existência. Singularidade. Subjetividade. Kierkegaard. Abstract: The present article is, in fact, a small essay whose purpose is to investigate the importance of education in Søren Kierkegaard's thinking and to investigate whether, in the scope of existence as a possibility, an education focused on subjectivity is effective before the debates about the freedom and the singularity of the individual. There is little debate about the concept of education in Kierkegaard, but we believe that this is a basic point in the thinking of the Danish philosopher, as we seek to demonstrate, and should be the object of further research, study and reflection. We take as reference for the beginning of this debate texts such as the Philosophical Fragments and the Post-Scriptum, where subjectivity and singularity appear as fundamental concepts.Keywords: Education. Existence. Uniqueness. Subjectivity. Kierkegaard. REFERÊNCIASALMEIDA, J.M A alteridade na construção da ética de Kierkegaard e Lévinas. In:  Revista Controvérsia - Vol. 6, n° 1: 36-45 (jan-mai 2010), São Leopoldo: UNISINOS, 2010.KIERKEGAARD, Søren. Diario: 1847-1848, Vol. 4. 3ª ed. A cura di Cornelio Fabro. Brescia: Morcelliana, 1980. (D 4)._______. Opere. Sansoni Editore. Milano: 1993._______. Postilla Conclusiva no Scientifica alle Briciole di Filosofia. In: Opere. Tradução e organização de Cornélio Fabro. Sansoni Editore: Milano, 1993._______. As obras do amor: algumas considerações cristãs em forma de discurso. Tradução de Álvaro Valls. Petrópolis: Vozes, 2005._______. Três Discursos Edificantes de 1843. Tradução de Henri Nicolay Levinspuhl.  Publicação do Tradutor. Rio de Janeiro:  2000.KIERKEGAARD, Søren. Migalhas filosóficas ou um bocadinho de filosofia de João Climacus. Tradução de Álvaro Valls, e Ernani Reichmann. Petrópolis: Vozes, 2001._______. O conceito de Ironia: constantemente referido à Sócrates. Tradução de Álvaro Valls, e Ernani Reichmann. Vozes: Rio de Janeiro, 1997._______. Johannes Climacus ou É preciso duvidar de tudo. Tradução Silvia Saviano Sampaio e Álvaro Valls. Martins Fontes: São Paulo, 2003._______. Diário Íntimo. Tradução de Maria Angélica Bosco. Santiago Rueda: Buenos Aires, 1989MARTINS, J.S.; VALLS, A. L. M. (orgs.). Kierkegaard no nosso tempo. Nova Harmonia: São Leopoldo: 2010. 

Orthodontic Aspects on the Chronological and Dental Age in Children with Down Syndrome

2018 ◽  
Vol 69 (1) ◽  
pp. 208-213
Author(s):  
Mariana Pacurar ◽  
Bogdan Dragomir ◽  
Alina Silvana Szalontay ◽  
Cristian Romanec
Keyword(s):  
Down Syndrome ◽  
Emotional Disorders ◽  
Metabolic Diseases ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Deciduous Teeth ◽  
Healthy Children ◽  
Dental Maturation ◽  
Children With Down Syndrome ◽  
The Family

Genetics is a key discipline in medicine, but also a clinical discipline with medical and social implications. The interest in reducing the number of genetic disorders and recognizing the risk of them repeating when a family confronts itself with a genetic anomaly becomes more and more important in the hierarchy of prophylactic emergencies. Presenting themselves as metabolic diseases (monogenic mutations) or malformations (polygenic and multifactorial heredity) because of their frequency, these disorders position themselves on an ascendant curve. They become difficult to deal with for the society, for the family and for the interested individual and cause emotional disorders. The Down syndrome is the most frequent type of genetic disorder. It is characterized by a specific set of signs and symptoms. People with Down syndrome require special medical care that, apart from the family, must include a team of doctors of various specializations and also a dentist. They are predisposed to hearing and sight disorders and thyroid problems as well. In 50% of the cases there are also anomalies of the heart, and the risk of leukaemia is 20 times higher. Some of them even develop an Alzheimer type dementia during their life. The people with Down syndrome can have an average IQ up to a moderate form of handicap. In particular, the studies on Down syndrome in dentistry are quite frequent, but they focus more on cavities, periodontal disease and hypodontia. In spite of this, the connection of Down syndrome and dental eruption is less studied. Consequently, the present study is intended to fill this missing part from the specialized literature, focusing on the relation between the Down syndrome and the chronological and dental ages in children. The health of the oral cavity is neglected in these patients, their parents focusing more on the treatment of the other systemic disorders of their children; the lack of interest is reflected in their poor oral hygiene.The trial group included 94 children with mixt dentition, aged between 6 and 12, divided as follows: 36 children with Down syndrome enrolled at the Educational Centre for Inclusive Education no. 1 of Tg. Mures and Alpha Transilvana Foundation. The chronology and the eruption sequences are subjected to certain variations and they are influenced by the presence of cavities, the premature loss or, on the contrary, the prolonged retention of deciduous teeth as well as dental anchylosis. Dental maturation is less subjected to variations, as it is a progressive, continuous and cumulative process. The presence of Down syndrome in children generates a delay in teeth eruption by 1.27 years compared to the data identified in the specialized literature and to the information obtained on the healthy children included in the study.

scholarly journals Tips and Pearls for Tracheostomy during the Covid-19 Pandemic

2021 ◽  
Vol 25 (03) ◽  
pp. e459-e462
Author(s):  
Darwin Kaushal ◽  
Shilpa Goyal ◽  
Nithin Prakasan Nair ◽  
Kapil Soni ◽  
Bikram Choudhury ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Present Article ◽  
Critically Ill ◽  
Current Literature ◽  
Literature Search ◽  
Scientific Evidence ◽  
Early Tracheostomy ◽  
Life Saving ◽  
Number Of Patients ◽  
Elective Tracheostomy

AbstractThe number of critically-ill coronavirus disease 2019 (Covid-19) patients requiring mechanical ventilation is on the rise. Most guidelines suggest keeping the patient intubated and delay elective tracheostomy. Although the current literature does not support early tracheostomy, the number of patients undergoing it is increasing. During the pandemic, it is important that surgeons and anesthesiologists know the different aspects of tracheostomy in terms of indication, procedure, tube care and complications. A literature search was performed to identify different guidelines and available evidence on tracheostomy in Covid-19 patients. The purpose of the present article is to generate an essential scientific evidence for life-saving tracheostomy procedures.

scholarly journals Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study

2021 ◽  
Vol 22 (12) ◽  
pp. 6274
Author(s):  
María Fernández ◽  
Alicia de de Coo ◽  
Inés Quintela ◽  
Eliane García ◽  
Márcio Diniz-Freitas ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Metabolic Pathways ◽  
Nominal Significance ◽  
Severe Periodontitis ◽  
Gene Level ◽  
Individual Marker ◽  
The Individual ◽  
Control Study ◽  
Marker Level

Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis (n = 50) and DS patients with healthy periodontium (n = 36). All samples were genotyped with the “Axiom Spanish Biobank” array, which contains 757,836 markers. An association analysis at the individual marker level using logistic regression, as well as at the gene level applying the sequence kernel association test (SKAT) was performed. The most significant genes were included in a pathway analysis using the free DAVID software. C12orf74 (rs4315121, p = 9.85 × 10−05, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 × 10−05, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 × 10−05, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 × 10−05, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 × 10−05, OR = 0.14) showed a higher probability in the individual analysis. The analysis at the gene level highlighted PIWIL, MIR9-2, LHCGR, TPR and BCR. At the signaling pathway level, PI3K-Akt, long-term depression and FoxO achieved nominal significance (p = 1.3 × 10−02, p = 5.1 × 10−03, p = 1.2 × 10−02, respectively). In summary, various metabolic pathways are involved in the pathogenesis of periodontitis in DS, including PI3K-Akt, which regulates cell proliferation and inflammatory response.

Reading Identity, Reading Essence: A Strategic Essentialist Approach to Mulk Raj Anand’s Untouchable

2021 ◽  
Vol 2 (4) ◽  
pp. 91-101
Author(s):  
Saleha Ilhaam
Keyword(s):  
Present Article ◽  
Human Existence ◽  
The Other ◽  
Political Strategy ◽  
Other Hand ◽  
Strategic Essentialism ◽  
Reading Identity ◽  
The Difference ◽  
The Individual ◽  
Individual Self

The term strategic essentialism, coined by Spivak, is generally understood as “a political strategy whereby differences (within Group) are temporarily downplayed, and unity assumed for the sake of achieving political goals.” On the other hand, essentialism focuses that everything in this world has an intrinsic and immutable essence of its own. The adaption of a particular “nature” of one group of people by way of sexism, culturalization, and ethnification is strongly linked to the idea of essentialism. Mulk Raj Anand’s Bakha is dictated as an outcast by the institutionalized hierarchy of caste practice. He is essentialized as an untouchable by attributing to him the characteristic of dirt and filth. However, unlike other untouchables, Bakha can apprehend the difference between the cultured and uncultured, dirt and cleanliness. Via an analysis of Anand’s “Untouchable,” the present article aims to bring to the forefront the horrid destruction of the individual self that stems from misrepresentations of personality. Through strategic essentialism, it unravels Bakha’s contrasting nature as opposed to his pariah class, defied by his remarkable inner character and etiquette. The term condemns the essentialist categories of human existence. It has been applied to decontextualize and deconstruct the inaccurately essentialized identity of Bakha, which has made him a part of the group he does not actually belong to.

Pathophysiology of Rett syndrome from the stand point of clinical characteristics

2001 ◽  
Vol 23 ◽  
pp. S94-S98 ◽  
Author(s):  
Masaya Segawa
Keyword(s):  
Rett Syndrome ◽  
Clinical Characteristics

scholarly journals Modified ELISA for Ultrasensitive Diagnosis

2021 ◽  
Vol 10 (21) ◽  
pp. 5197
Author(s):  
Naoko Tsurusawa ◽  
Jyunhao Chang ◽  
Mayuri Namba ◽  
Daiki Makioka ◽  
Sou Yamura ◽  
...  
Keyword(s):  
Infectious Diseases ◽  
Present Article ◽  
Immunosorbent Assay ◽  
Current Literature ◽  
Quantitative Measurement ◽  
Review Article ◽  
Detection Sensitivity ◽  
Enzyme Linked Immunosorbent Assay ◽  
Ultrasensitive Detection ◽  
Lifestyle Related Diseases

An enzyme-linked immunosorbent assay (ELISA) can be used for quantitative measurement of proteins, and improving the detection sensitivity to the ultrasensitive level would facilitate the diagnosis of various diseases. In the present review article, we first define the term ‘ultrasensitive’. We follow this with a survey and discussion of the current literature regarding modified ELISA methods with ultrasensitive detection and their application for diagnosis. Finally, we introduce our own newly devised system for ultrasensitive ELISA combined with thionicotinamide adenine dinucleotide cycling and its application for the diagnosis of infectious diseases and lifestyle-related diseases. The aim of the present article is to expand the application of ultrasensitive ELISAs in the medical and biological fields.

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