Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis
Chen S, Liang B, Lin N
et al.
Shixin Chen,1,* Bin Liang,1,* Na Lin,1 Mian Pan,2 Li Li2 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, People’s Republic of China; 2Department of Obstetrics, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, People’s Republic of China*These authors contributed equally to this workCorrespondence: Li Li, Email bobo20040618@fjmu.edu.cnAbstract: Given the clinical heterogeneity and generally poor prognosis of X-linked myotubular myopathy (XLMTM), the identification of prenatal indicators and relevant medical history is imperative. However, studies specifically addressing the prenatal manifestations of this condition remain limited. Therefore, we investigated a case of XLMTM characterized by persistent polyhydramnios and conducted a comprehensive literature review. A neonate diagnosed with XLMTM was identified at the Fujian Provincial Maternity and Children’s Hospital, Fuzhou, China. Genetic analysis, including whole exome sequencing (WES) and Sanger sequencing, was performed on the infant and his parents. Pathogenic variants were classified following American College of Medical Genetics and Genomics criteria. A literature review examined prenatal features of polyhydramnios in male infants with XLMTM. The mother experienced persistent idiopathic polyhydramnios and underwent amniotic fluid reduction and prenatal diagnosis. Despite normal fetal karyotyping and single nucleotide polymorphism-array findings, the neonate, born at 36 weeks, had severe respiratory failure and died 1.5 h post-resuscitation. WES identified a pathogenic hemizygous frameshift mutation within exon 10 of MTM1 (c.968_969delinsT, p.K323Mfs*2). A literature review revealed phenotypic variability in XLMTM, with single-nucleotide variations being the most common mutation type. The novel MTM1 mutation (c.968_969delinsT, p.K323Mfs*2) caused XLMTM in this case. The prenatal characteristics exhibited by the mother, including persistent amniotic fluid and reduced fetal movement, highlight the need for WES in high-risk pregnancies, offering critical insights for prenatal diagnosis and genetic counselling.Keywords: X-linked myotubular myopathy, polyhydramnios, MTM1 gene, WES, prenatal diagnosis
Gynecology and obstetrics
Measuring the duration of kangaroo mother care for neonates: a scoping review
Moffat Nyirenda, Cally J Tann, Melissa M Medvedev
et al.
Objectives Kangaroo mother care (KMC) is high impact for survival of low birth weight neonates, but there are few rigorous evaluations of duration required for impact. We conducted a scoping review of KMC duration measurement methods and assessed their validation.Design Scoping review in accordance with Joanna Briggs Institute guidance for conducting scoping review.Data sources MEDLINE, Embase, Cochrane Library, PsycINFO, African Index Medicus, Latin American and Caribbean Health Sciences Literature, ClinicalTrials.gov, International Clinical Trials Registry Platform, International Standard Randomised Controlled Trial Number Registry, Medrxiv and OpenGrey were searched through November 2022.Eligibility criteria for selecting studies Publications with primary data on KMC duration were included. We excluded short procedural skin-to-skin care studies.Data extraction and synthesis Selection and data abstraction were conducted by two independent reviewers. A data charting form based on the variables of interest was used to abstract data.Results A total of 213 publications were included, of which 54 (25%) documented a method of measuring KMC duration. Only 20 publications (9%) provided a detailed description of the duration measurement method, and none reported validity. Most studies used caregiver reports (29, 54%) or healthcare worker observations (17, 31%). Other methods included independent observers and electronic monitoring devices.Conclusion Only 9% of KMC studies reporting duration documented the measurement method applied, and no studies were found with documented validation of duration measurement methods. Accurate and comparable data on the dose response of KMC will require duration measurement methods to be validated against a gold standard such as an independent observer.
Continental Divide: The Values and Institutions of the United States and Canada
S. Lipset
588 sitasi
en
Political Science, Sociology
Theoretical Foundations of Cultural Materialism and Understanding of Literary Text
Dr. Mujahid Abbas, Dr. Kamran Abbas Kazmi
Cultural Materialism theory is proposed by an American Anthropologist Marvin Harris. This theory has a scientific strategy to find the facts about human cultures. This theory suggests that in every sociocultural system, three major parts, infrastructure, structure, and superstructure, interact with each other. Infrastructure refers to material resources of the culture that man established to get energy and food from his physical environment. Structure refers to the laws and procedures of social institutions which regulate the distribution of food and power among the members of the society. Superstructure refers to the soft images of society like art, music, language, literature, and behaviors of individuals in a social setup. This theory provides a comprehensive analysis pattern of any literary text by finding the infrastructure in the base of structure and superstructure. In this article, it is tried to formulate theoretical bases and practical dimensions of cultural materialism۔
Language. Linguistic theory. Comparative grammar, Computational linguistics. Natural language processing
Emotional Intelligence and Leadership in Workplace: a Systematic Review (1990 – 2020)
Orjana de Oliveira Pacheco, Isaías Peixoto, Monalisa Muniz
This article was focused on the context of organizational psychology and aimed at verifying the correlation between emotional intelligence (IE) and the aspects of workplace leadership, through a systematic literature review (from 1990 to May 2020). The research was conducted from February to July 2020, based on the following databases: BVS Brasil Phycology, PEPSIC, SCIELO, LILACS and American Psychological association (APA PsycINFO). Searches were applied with the combination of the descriptors of “emotional intelligence”, “leadership”, and “work” and their respectives in Portuguese. From all the articles, 75 were considered, being 22 theoretical and 53 empirical. The found results indicate mostly positive relation between IE and leadership aspects and performance. Throughout the texts, the main countries and continents and the periods in which the research occurred, the IE patterns, and the tests which were applied were highlighted.
Psychology, Industrial psychology
The Comparative Study of Iranian and German Folk Stories (Case Study: Molla Nasreddin's Story and Grimm's Legends
Fatemeh Jabbari Gharebagh, Najmeh Dorri
. Introduction Stories and legends are like ships in the direction of the wind, moving east and west, north and south, traveling from one land to another, and sometimes changing from one form to another. The process of development and metamorphosis of these stories can usually be traced, despite their ups and downs. Among the most attractive examples of this type of story are those that have humorous content, and they have certainly played an important role in creating pleasure and entertainment for people in different nations. Since such stories were usually presented as anecdotes and in a short form, they could be passed on more quickly. One of the most famous comic characters in Iran is Molla Nasreddin, who has a long history among Iranians and other people. His popularity, presence, and influence are such that many instructive hints and answers are attributed to him and he is effectively represented in folk literature and Persian proverbs and sayings.The fact that stories have been used since ancient times as one of the best methods of education prompted us to look for similarities in the legends and stories of other peoples. Compare with domestic examples. Among the different countries, the German fairy tales collected by the Brothers Grimm seem to be more similar to the stories of Molla Nasreddin. In this article we will try to answer the question, what are the similarities and differences between the themes of the stories of Molla Nasreddin and the fairy tales of the Brothers Grimm? 2.MethodologyThe method used in this research is descriptive-analytical. The data has been analyzed by content analysis technique and library documents have been used in it. The research approach in terms of comparative literature is based on the American school. 3.DiscussionFrom the distant past to the present, wise people have told stories and legends to guide others and teach them important life lessons. The problems that people faced on a daily basis required solutions, which were often found in stories. On the other hand, people's dreams and fantasies, and even unattainable desires could come true in stories and sweeten their palates, even if only for a short time. In the following article, we will review the summary of some stories of Molla Nasreddin and related stories in Grimm's Fairy Tales We will also .categorize and extract the salient features of the characters mentioned in the stories.We have selected 29 stories of Molla Nasreddin based on their similarities with the Brothers Grimm's fairy tales as examples for review. then we will compare the way of storytelling and their similarities and differences.In most of these stories, simplicity is the main characteristic of Molla Nasreddin. Moreover, the mullah can be seen as a simple and ignorant character who is often self-deprecating, but sometimes he appears so entitled and arrogant that this personality conflict makes the audience laugh. Sometimes he takes advantage of the experiences of others, and sometimes he is open to criticism with humility. All these traits are different characteristics of ordinary people, one of which is highlighted in each story to attract the audience's attention and make them correct their behavior.Most of the characters of the Brothers Grimm are naive, ignorant, and gullible. Some of them are the third brother or the third student and sometimes they are smaller and weaker than others. Resourcefulness and good-heartedness are positive qualities that connect the reader with the main character, and their cleverness at the last moment or their luck provides a happy ending in the stories. In some other stories, the main character is cunning and greedy and uses any means to achieve his wish. Here, however, contrary to Iranian stories, witches and wizards are present to help the hero in difficult times and save him from danger. After all, the German people also have common concerns and problems, and stories help them during the difficulties. 4.ConclusionFolklore consists of the language, behavior, way of thinking, and attitude of the members of the society reflected in their legends. The stories of Molla Nasreddin, with their humorous and wise aspects, have played a very important role in informing and sensitizing the people. The storytellers of Grimm's fairy tales have told stories to people by following the example of normal characters in society so that people can easily identify with them and find the way out of problems and succeed from the heart of the story.In Iranian culture, due to the belief in Islam and Islam's rejection of magic, humor was used instead of magic to portray popular culture and educate people, while in Germany, the tool of magic and legend was most commonly used to convey concepts and criticize the prevailing situation. Thus, the difference between these two cultures is the non-use of magic in Iranian stories.The similarities between these two collections lie more in the fact that a common person takes roles and positions in different stories, and this despite the naivety and stupidity and everyday events and sometimes laughter. Unexpectedly, he completes something and sees the consequences of his actions. The purpose of the stories is to condemn the bad qualities and traits in society and teach morality and lifestyle in a pleasant and effective way.In general, the mullah can be seen as a simple and ignorant character who is often self-deprecating, but sometimes he appears so self-righteous and arrogant that this personality conflict causes laughter among the audience. Sometimes he takes advantage of the experiences of others, and sometimes he is open to criticism with humility; but these behaviors do not last long, and they come across as stingy, greedy, selfish, and apologetic. The heroes of the Brothers Grimm's fairy tales are also naive, ignorant, and gullible. most of them are the third brother or the third disciple and sometimes they are smaller and weaker than others. Resourcefulness and good-heartedness are positive qualities that connect the reader with the main character, and their cleverness at the last moment or their luck provides a happy ending in the stories. In some other stories, the main character is cunning and greedy and uses any means to fulfill his desire.It can be concluded that the general culture of the two countries has many similarities and themes. Heroization of ordinary characters is the main theme of most of these stories. Sometimes the audience gets angry or laughs at the exaggerated naivety of the main character, but in the end, this method has a profound effect on the audience and teaches the audience many lessons during the story.
Vestibular assessment in children aged zero to twelve years: an integrative review
Danielle Samara Bandeira Duarte, Anna Marial de Lira Cabral, Diana Babini Lapa de Albuquerque Britto
Objective: To describe the main vestibular assessment tests performed in children aged zero to twelve years and the main causes of referral for vestibular assessment. Methods: The review was guided by the following question: What are the main vestibular assessment tests performed in children aged zero to twelve years and the main causes of referral for vestibular assessment? The PVO strategy was used, being defined as: Population (P) – newborns and children; study Variable (V) – causes of referral for vestibular assessment; study Outcome (O): the main vestibular assessment tests and the main findings. This study was carried out using the main available databases in the months of July, August and September 2021, with no restrictions regarding language and publication date, namely: PubMed, Web of Science, Scientific Electronic Library Online (SciELO), Latin-American and Caribbean Literature in Health Sciences (LILACS), ScienceDirect, Cochrane Library and Embase. The descriptors were obtained from the MeSH database: newborn, infant, child, children, vestibular screening, vestibular infant screening, vestibular newborn screening, test, vestibular function, vestibular function test. Results: A total of 7,078 studies were identified. After reading the titles and abstracts, 107 of them were selected, with 101 remaining after the exclusion of duplicates. After the full-text reading, 31 articles were included. It was observed that the most frequently used tests were: rotational tests, caloric stimulation and cervical vestibular evoked myogenic potential and the main causes of referral for vestibular evaluation were hearing loss and vestibular screening. Conclusion: The main tests for vestibular screening and/or assessment of children aged zero to twelve years are the rotary chair testing, caloric stimulation and cervical-vestibular evoked myogenic potential. Consequently, performing these procedures is extremely important, since the presence of vestibular dysfunction is quite common in the studied population.
South American medicinal plants for the symptomatic treatment of benign prostatic hyperplasia: A systematic review
Eliana Solorzano , Paolo Pastore, Davide Grisafi
Background & Aim: Benign prostatic hyperplasia (BPH) is one of the prevalent age-related medical conditionin men. In the last 20 years, alternative therapies, especially those based on herbs, are increasingly preferred. The most popularly consumed herb is Serenoa repens, a plant growing in the subtropical south-eastern United States which has shown very efficient results compared to pharmacological conventional treatments both in terms of cost and risks associated with them. Nevertheless, the same trial found no difference between S. repens and placebo according to the American Urological Association Symptom Score Index. As more and more consumers are turning increasingly towards natural therapies, it would be appropriate to promote the recognition of the value of other medicinal plants with potential applicability through comprehensive research. For this purpose, a descriptive comparison between several South-American plants little publicised in the pharmaceutical market is presented to slightly narrow the gap between the reliable evidence-based and popular information for consumers and the pharmaceutical industry.
Experimental: With this approach, a review of the literature was conducted through an electronic consultation of two databases, Science Direct and Google Scholar™.
Results: This narrative review highlights the wide range of natural medicines available for controlling the inflammatory symptoms of the lower urinary tract, which could be more explored from a pharmacological and chemical point of view.
Recommended applications/industries: The future use of natural products requires further investment in pre-clinical research and in clinical trials that investigate stability and a profitable pharmacokinetic/pharmacodynamic ratio. Although they are well tolerated and used daily by South American populations, the industry's proper commercial focus on these natural remedies cannot be separated from appropriate phyto-vigilance actions promoted
Pharmacy and materia medica
Best Evidence Summary for Perioperative
Blood Glucose Management in Patients Undergoing Pancreatectomy
CUI Lei, LIU Linglong, WANG Jianjian, YU Huiping, SUN Qingmei, MIAO Yi, FANG Xiaoping
BackgroundBlood glucose disorder is a common perioperative problem in patients with pancreatectomy. However, current perioperative blood glucose management for pancreatic resection patients in China is mostly based on experience and lack of evidence-based basis.ObjectiveTo summarize the best evidence for perioperative blood glucose management in patients undergoing pancreatectomy.MethodsA systematic literature search of BMJ Best Practice, Up to Date, Guideline International Network, International Diabetes Federation, World Health Organization, National Guideline Clearinghouse, American Diabetes Association, the National Institute for Health and Care Excellence, New Zealand Guidelines Group, Canadian Diabetes Association, Australian Diabetes Society, Scottish Intercollegiate Guidelines Network, PubMed, Web of Science, EMBase, CINAHL Database, Cochrane Library, the Joanna Briggs Institute Evidence-based Health Care Center, Medlive.cn, Wanfang Data, CNKI, and Chinese Biomedical Database was conducted to screen the literature on perioperative blood glucose management in patients with pancreatectomy published from inception to December 2020. The AGREE Ⅱ scale updated in 2009 by the International AGREE Collaboration Organization was used to assess the quality of guidelines. The quality assessment of the expert consensus used the 2017 version of the expert consensus evaluation standard of the Australian JBI Evidence-based Health Care Center. The Jadad scale was used to assess the quality of randomized controlled trials (RCTs) .ResultsA total of 6 637 studies were retrieved, and 13 of them were finally included, of which 7 were clinical practice guidelines, 4 were expert consensus, and 2 were RCTs. The results of quality assessment showed that 3 of the 7 clinical practice guidelines were rated grade A, and the remaining 4 were rated grade B. In assessing the quality of the 4 expert consensuses, the answers of raters for all items were "yes" , except that their answers for the item "Is there a reasonable explanation for the point of view inconsistent with other literature?" were "unclear" . Both the two RCTs were rated high. A total of 62 pieces of best evidence were collected, mainly related to perioperative organization and management, admission evaluation and treatment, blood glucose control goals, blood glucose monitoring, preoperative, intraoperative and postoperative blood glucose management strategies, management of emergency conditions, and discharge guidance.ConclusionClinical medical workers can develop individualized and holistic perioperative blood glucose management plans for patients with pancreatectomy, based on the above-mentioned 9 aspects of best evidence.
The Poet in a State of Emergency: Ivan M. Jirous
Annalisa Cosentino, Jan Wiendl
This article examines Magorovy labutí písně (‘Magor’s swan songs’), a collection of poems by political prisoner Ivan M. Jirous, and an important example of Czech prison poetry from the second half of the 20th century. It was during his imprisonment in Litoměřice, Ostrov, and Valdice (1981–1985) that Jirous wrote the poems, which were smuggled out as motáky (clandestine notes written on rolls of paper) by his friend and fellow prisoner Jiří Gruntorád. The article first characterises the situation of Jirous and the Czech underground during the 1970s and 1980s. It then proceeds to analyse how Magorovy labutí písně represents a form of literary creation whose aesthetic specificity arises from the situation of extreme hardship — the ‘state of emergency’ — in which it was written. This specificity can be found in the authentic and even documentary aspect in which the poems reflect the time and place of the prison, as well as the broader, timeless, and more spatially expansive awareness of life that the poems express. What is essential here is not the contingent aspects of the writing, the fleeting influence of inspiration, but more broadly the conscious use of specific means and methods of poetic composition. It is thus a form of literary expression that confronts the characteristic aspects of prison time and spatial confinement by consciously exceeding the limits of the walls, reaching out into the diverse and varying temporal planes and shifting reality of the surrounding world — an experience that is only intensified by its juxtaposition to the daily life of the prisoner from which these dimensions have been brutally stripped. This context-based interpretive analysis demonstrates, in conclusion, that the prison poetry in question here aims to define the effects of confinement and the prison environment by means of a complex gesture, one that is unified by a range of interrelated poetic devices: aural (sound and metre), figural, metaphorical, compositional, stylistic, etc. Prison poetry thus facilitates the survival of its creators and fellow (not only political) prisoners — referred to colloquially as ‘muklové’ (an acronym for muži určení k likvidaci, or ‘men destined for liquidation’) — not only in the physical sense, but above all spiritually, as integral, unbroken personalities.
Herbal Medicine: Expanded Commission E Monographs
M. Rotblatt
Gender and Religiousness: Can Socialization Explanations Be Saved?1
Alan S. Miller, R. Stark
Lack of Racial Survival Differences in Metastatic Prostate Cancer in National Cancer Data Base (NCDB): A Different Finding Compared to Non-metastatic Disease
Toms Vengaloor Thomas, Xiaoshan Z. Gordy, Seth T. Lirette
et al.
Background: Inconsistent findings have been reported in the literature regarding racial differences in survival outcomes between African American and white patients with metastatic prostate cancer (mPCa). The current study utilized a national database to determine whether racial differences exist among the target population to address this inconsistency.Methods: This study retrospectively reviewed prostate cancer (PCa) patient data (N = 1,319,225) from the National Cancer Database (NCDB). The data were divided into three groupings based on the metastatic status: (1) no metastasis (N = 318,291), (2) bone metastasis (N = 29,639), and (3) metastases to locations other than bone, such as brain, liver, or lung (N = 952). Survival probabilities of African American and white PCa patients with bone metastasis were examined through parametric proportional hazards Weibull models and Bayesian survival analysis. These results were compared to patients with no metastasis or other types of metastases.Results: No statistically supported racial disparities were observed for African American and white men with bone metastasis (p = 0.885). Similarly, there were no racial disparities in survival for those men suffering from other metastases (liver, lung, or brain). However, racial disparities in survival were observed among the two racial groups with non-metastatic PCa (p < 0.001) or when metastasis status was not taken into account (p < 0.001). The Bayesian analysis corroborates the finding.Conclusion: This research supports our previous findings and shows that there are no racial differences in survival outcomes between African American and white patients with mPCa. In contrast, racial disparities in the survival outcome continue to exist among non-metastatic PCa patients. Further research is warranted to explain this difference.
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Focus and trends in nurse advocacy in the Pan American Health Region: a bibliometric analysis
David Charles Benton, Alyson Suzanne Brenton
Objective: this study examined scholarly output relating to nursing advocacy contributions toward influencing policy by authors in countries of the Pan American Health Organization. Method: the study utilizes a bibliographic analysis of papers indexed in Scopus authored by PAHO member state scholars. VOSviewer conducted coauthor and cooccurrence analysis to generate visualizations of the relationships between authors, countries of origin and keywords. Results: 7,773 papers with 21,523 authors met the inclusion criteria. An increase of publications on policy starting in 1962 was found. Co-authorship identified a fragile relationships structure with few authors bridging networks of collaboration. By country of origin, 22 of 35 member states contributed to policy literature; 17 in a connected network and 5 contributing but neither connected to peers nor other member states. Keyword analysis identified 20 specific data clusters. Conclusion: our findings are aligned with the Nursing Now Campaign. This bibliographic analysis provides an important benchmark into current policy advocacy activity in PAHO against which future progress in the region can be assessed. There is scope for greater collaboration amongst authors and this could be targeted toward engagement of nurses in member states not-yet or only partially active in this space.
Examining the pedagogical foundations of modern educational computer games
Mansureh Kebritchi, Atsusi Hirumi
399 sitasi
en
Computer Science
A Sense of Things
Bill Brown
451 sitasi
en
Art, Sociology
Theory and Practice of Intercultural Communication
in Language Teacher Training and Translator Training
Marina Kulinich, Elena Makeeva, Ekaterina Savitskaya
Intercultural communication as an academic subject was introduced into linguistic Bachelor and Master education in Russia about twenty years ago. Unlike various aspects of linguistics, English studies, British and American literature which have been part and parcel of the curriculum in foreign language departments for many decades, this subject is new both to teachers and students. Its appearance in the curriculum is due to Russia’s entering the global educational environment. This subject as central theoretical component of training specialists in foreign languages requires practical manuals with reference to new educational standards. Intercultural communication as a field of study is so wide that it requires the efforts of specialists in linguistics, psychology, cultural anthropology, etc. It is but natural that teaching intercultural communication in universities is limited mostly to contrastive insights into communication between representatives of two linguo-cultures – those of Russia and the country/countries of a foreign language (mostly English). This paper discusses various ways and means of developing intercultural competence, practiced in Samara State University of Social Sciences and Education. The paper also presents the results of regular anonymous questionnaires among our students dealing with teaching intercultural communication. The authors conclude that theory of intercultural communication is firmly rooted as the subject that forms young people’s cultural awareness. Our experience shows that students are genuinely interested in the subject, mostly because of its possible application to their future profession.
Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne
A. Nascimento Osorio, J. Medina Cantillo, A. Camacho Salas
et al.
Resumen: Introducción: La distrofia muscular de Duchenne (DMD) es la miopatía más frecuente en niños, con una prevalencia mundial de aproximadamente 0,5 por cada 10.000 varones. Se caracteriza por una debilidad muscular progresiva al inicio de la infancia con aparición posterior de complicaciones musculoesqueléticas, respiratorias y cardíacas que ocasionan discapacidad, dependencia y muerte prematura. Actualmente su tratamiento se fundamenta en medidas sintomáticas multidisciplinares que han modificado favorablemente el curso de la enfermedad, por lo que resulta crucial establecer unas directrices claras y actualizadas que permitan tanto una detección temprana de la enfermedad como un adecuado tratamiento y seguimiento de sus posibles complicaciones. Desarrollo: Con el fin de obtener una visión general de los aspectos abordados por las guías actuales y detectar aquellos en los que todavía no existe un consenso y su abordaje sea relevante, se realizó una revisión de la literatura en la base de datos biomédicas de los últimos 10 años. El grado de evidencia y el nivel de recomendación de la información obtenida se clasificaron y ordenaron de acuerdo con los criterios de la American Academy of Neurology (AAN). Conclusiones: El abordaje de la DMD debe ser multidisciplinar y ajustado al perfil del paciente y su grado de evolución clínica, comprendiendo, además del tratamiento basado en corticoides, medidas a nivel gastrointestinal, respiratorio, cardiaco, fisioterapéutico y ortopédico dirigidas a mejorar la calidad de vida de los pacientes. Los estudios genéticos desempeñan un papel clave en el manejo de la enfermedad, tanto en la detección de casos y posibles portadoras como en la caracterización de la mutación implicada y el desarrollo de nuevas terapias. Abstract: Introduction: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. Development: We performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. Conclusions: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients’ quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies. Palabras clave: Duchenne, Consenso, Manejo, Multidisciplinar, Individualizado, Terapia génica, Keywords: Duchenne, Consensus, Management, Multidisciplinary, Individualised, Gene therapy
Neurology. Diseases of the nervous system
Appropriateness of waist circumference and waist-to-hip ratio cutoffs for different ethnic groups
S. Lear, Philip T James, G. Ko
et al.
American Jewish Ethnicity: Its Relationship to Some Selected Aspects of Consumer Behavior
E. Hirschman