Medicina-buenos Aires最新文献

Neurofibromatosis type 1 (NF1) is a genetically determined, autosomal dominant disease with complete penetrance and variable clinical expression. It is characterized by the presence of café-au-lait macules, ephelides, Lisch nodules, neurofibromas, plexiform neurofibromas and predisposition to tumours. From a neurological point of view, it can manifest with migraines, seizures, vasculopathy, learning disorders, etc. The current diagnostic criteria include genetic and new ophthalmological findings. Although, the extensive clinical and genetic heterogeneity of the disorder makes genotype-phenotype correlation difficult. Recent studies have revealed a limited number of genotype-phenotype correlations which have improved the understanding of this disease and have favored the development of precision treatments (MEK pathway inhibitors), improving quality of life of affected children. A multidisciplinary approach is crucial to provide appropriate care for these children. Early detection of neurological and oncological complications is important, to provide timely interventions to manage symptoms in a timely manner.

Parasomnias, from the Greek "para" (around) and the Latin "somnus" (sleep), refer to manifestations that occur in relation to sleep: whether at the onset, during its course, or upon waking. They constitute up to a third of consultations. These events are striking and often bothersome, both for those who experience them and for those who observe them. They involve motor, cardiovascular, or other manifestations, generating fear and/or anxiety when witnessed. Some parasomnias show a familial pattern or are associated with neurodevelopmental disorders, appearing in relation to triggers such as febrile processes, medications, emotional disturbances, or respiratory disorders. This can lead to confusion with conditions like epilepsy, necessitating meticulous examination and clinical history-taking to ensure accurate diagnosis. The International Classification of Sleep Disorders (ICSD-3) by the American Academy of Sleep Medicine (AASM) classifies parasomnias into three categories: a) Parasomnias related to REM (rapid eye movement) sleep; b) Parasomnias related to non-REM sleep and c) Other specified or unspecified parasomnias. Given the impact of sleep problems on children's development, it is essential to be adequately prepared and informed to address these issues and prevent potential complications.

Diagnosing a metabolic disease is not a simple task. There are more than 2000 metabolic diseases, 70% of which present with neurological manifestations. The signs and symptoms of these neurometabolic diseases are highly varied and range from purely neurological, biochemical, multisystemic, or simply cutaneous. Cutaneous manifestations in metabolic diseases appear in 10-12% as the initial sign or accompany other neurological or systemic manifestations. Identifying these cutaneous signs can assist the clinician in orienting suspicion, facilitating diagnosis, or identifying complications or treatment side effects. The main cutaneous manifestations in neurometabolic diseases can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, pigmentation disorders, photosensitivity, skin laxity and hair involvement. In this article, we summarize the most common cutaneous signs in metabolic diseases, diagnostic guidance, and therapeutic options.

Intellectual giftedness is defined as the manifestation in an individual of exceptional cognitive abilities in various areas of knowledge, skills, or competencies, compared to the average performance standards observed in the general population. Parents, teachers, and neurobiologists face complex questions for which there are still few conclusive answers. It presents a critical analysis of current diagnostic processes, challenges, and limitations. It also discusses biological factors involved, such as genetics, brain function, and development, as well as the influence of the environment on the expression and enhancement of these abilities. Finally, practical recommendations are offered to professionals, families, and educators to foster environments that promote harmonic development for those exceptional children and opportunities for the development of their full potential for all children.

Acquired brain damage, comprising traumatic and nontraumatic brain injuries, is a major public health concern with far-reaching effects on prognosis and continued disability. This review aims to explore the types of acquired brain damage and cognitive rehabilitation techniques, and the role of cognitive rehabilitation in aiding recovery in pediatric populations. This further highlights the current gaps in research and future directions.

The Guillain-Barré syndrome (GBS) represents a group of immune-mediated peripheral polyneuropathies, which are the most common cause of acute flaccid paralysis in clinical practice. Its most prevalent form is acute inflammatory demyelinating polyneuropathy (AIDP), though multiple variants are also recognized, such as axonal neuropathies (AMAN, AMSAN) and MillerFisher syndrome. Diagnosis remains primarily clinical, supported by findings in cerebrospinal fluid analysis, neurophysiological studies, and, in certain cases, specific serology. Early detection is crucial to prevent potentially fatal complications such as respiratory failure or severe dysautonomia. This article provides an updated review of the diagnostic and therapeutic approaches to GBS, emphasizing its pathophysiology, clinical manifestations, first-line therapeutic strategies, and emerging variants treatable with targeted immunotherapy.

Skin and soft tissue infections (SSTIs) are extremely common, and while the vast majority are mild, they can occasionally lead to serious local and systemic complications. Therefore, early recognition and appropriate medical and surgical management are of primary importance. In 2009, the Argentine Society of Infectious Diseases (SADI), along with other scientific societies, published its latest recommendations. This Guide was developed by specialists from the Argentine Society of Infectious Diseases (SADI) and discussed in a plenary meeting with the participation of representatives from six other Scientific Societies: Argentine Society of Dermatology, Argentine Association of Surgery, Argentine Society of Medicine, Argentine Association of Clinical Microbiology, Buenos Aires Society of Internal Medicine, and Argentine Society of Intensive Care, based on their experience in this subject. Each chapter contains recommendations based on scientific evidence and expert opinion, including useful diagnostic tools, with special emphasis on clinical assessment and differential diagnoses, and antimicrobial therapy, with attention to the responsible use of antibiotics.

Heparin and its different formulations and derivatives, the first and second generation low molecular weight heparins and pentasaccharides, are indirect parenteral anticoagulants that, with limitations and difficulties, continue to have a privileged place in the modern therapeutic arsenal. Even after many years of use, their unique properties make them the best possible anticoagulant in certain scenarios, such as in pregnancy, end stage renal insufficiency or patients that need a quick and reversible anticoagulation. They are also the anticoagulant of choice when it is important to inhibit clots related to external surfaces where the activation of the intrinsic coagulation pathway is especially relevant. Examples of the importance of these compounds are their nowadays first place recommendation in certain thrombosis like in cancer, hemodialysis, or extracorporeal cardiac devices. Also, in patients with venous thromboembolism and hemodynamic instability, high risk of bleeding or in the acute coronary syndrome, heparins are today the preferred anticoagulant. However, the management of heparins is complex and, in some cases, requires frequent laboratory measurements for monitoring. They can eventually cause severe adverse events, such as life-threatening bleeding episodes or thrombosis associated with immune activation of platelets. Understanding the characteristics of these anticoagulants, their use and correct monitoring will allow us to use the different heparins safely. The role of the haemostasis laboratory is essential to adjust the dose of unfractionated heparin, which have proven to be difficult to manage for the general practitioner. In this document we actualize the laboratory and clinical management of heparins and related drugs in the modern anticoagulation era.

Introduction: The neurobiological potentiality of cognitive resources in High Intellectual Ability (HIA) involves complex cognition and representation of the world. This is related to language and figurative language. Competence in figurative language and its forms, such as verbal irony, is an understudied aspect of High Intellectual Ability that could provide a broader understanding of the abilities that constitute it, compared to the development of typical intelligence. The aim of this study was to investigate how children with HIA, aged 7-9 years, understand verbal irony and to compare their competence with typical children of the same age.

Methods: A univariate analysis of variance was performed on responses to the VIrQ questionnaire from a sample of n=62 schoolchildren with HIA and an agematched control group of typical schoolchildren (n=62).

Results: Show the complexity of verbal irony comprehension in participants with HIA at the age of 7-9 years compared to typical schoolchildren.

Discussion: We conclude and discuss comparing the components of irony that were most easily understood in each group, as well as those that were most difficult, suggesting the relevance of this area of study for better understanding the functioning of high intellectual ability, the relationship of verbal irony to other higher-level cognitive processes, and its possible role as complementary information in differential cognitive assessment.

Introduction: In recent decades, different studies have shown the effectiveness of intervention programs that incorporate multiple components to optimize the results of the interventions. However, the analysis of the effectiveness of multicomponent programs in Spanish is relatively scarce. Therefore, the main objective of the present study was to analyze the effectiveness of a multicomponent program (i.e., phonological-based training with visual letter support, Reading fluency training, and motivational strategies) on Reading skills and Reading motivation in Spanish children with dyslexia.

Materials and methods: Twenty-four children with dyslexia between 9 and 12 years of age participated. Support teachers individually applied the multicomponent program for 20 weeks at a rate of three weekly sessions of about 40-50 minutes. Different measures of word, pseudo-word, text and comprehension reading, as well as Reading motivation indicators were taken.

Results: The results of the comparison between pretreatment and post-treatment phase scores indicate that students with dyslexia increased their performance on Reading measures (e.g., word-reading efficiency, pseudowords, text reading speed and accuracy index, reading comprehension), as well as on reading motivation measures (e.g., reading self-concept, reading value, and reading engagement).

Discussion: Results are discussed with respect to effective interventions for students with dyslexia. Reflections on the limitations of the study provide a basis for recommending future lines of research.