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Copyright of Argentinian Journal of Respiratory & Physical Therapy (AJRPT) is the property of Asociacion Civil Cientifica de Difusion y Promocion de la Kinesiologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Spinal Muscular Atrophy (SMA) is defined as a set of hereditary neurodegenerative disorders that cause phenotypic and genotypic variability, impacting the quality of life, psychosocial, emotional, and functional development of those affected. In Colombia, it is considered a rare disease due to its low prevalence, chronicity, and high complexity. The objective of this case report is to describe, characterize, and correlate phenotypically and genotypically a patient with clinical suspicion of neurodegenerative disease. The patient is a 32-year-old female with a clinical picture of equinus, varus, supination of the hindfoot, adduction of the right forefoot, and limitation in wrists with subsequent weakness and predominantly lower limb muscle atrophy, generalized areflexia, and positive Gowers sign. Given the suspicion of progressive degenerative neuromuscular disease, endocrine, neuromuscular, cardiovascular studies, sural nerve biopsy, and genetic testing are requested. The results show sural nerve biopsy with axonal loss with little demyelination, and genomic study using trio clinical exome sequencing performed using Illumina technology with identification of pathogenic clinically significant variants in the NOD 2 gene with heterozygous and DYNC2H1 gene with homozygous status. Finally, a gene interaction network is created using the GeneMania program, determining gene associations. The conclusion of this study was the diagnosis of SMA represents a challenge due to its wide phenotypic-genotypic variability. Although most patients are due to variants in the SMN1 gene, there are other non-5q genes associated with this pathology. A specific diagnosis impacts treatment, prognosis, and attributed morbidity and mortality, establishing heritability risk and genetic counseling for the sake of preventive, predictive, personalized, and participatory medicine. [ABSTRACT FROM AUTHOR]

Copyright of Dilemas Contemporáneos: Educación, Política y Valores is the property of Dilemas Contemporaneos: Educacion, Politica y Valores and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder showing peripheral hypotonia, atrophy, and weakness in the extremities and bulbar muscles. It is caused by the homozygous deletion of the SMN1 gene on chromosome 5q13. Before 2016, there was no treatment to modify the disease, and in that year it was approved nusinersen, the first drug available to treat this disease, whose action mechanism consists in regulating the SMN2 gene to increase the survival motor neuron (SMN) levels. More recently, the gene therapy onasemnogene aberparvovec-xioi (OAX) was approved for patients under two years of age. The human SMN1 gene is delivered intravenously through an adeno-associated viral type 9 vector. Both therapies appear to show significant improvement in motor function without the presence of severe adverse effects. However, it is unclear whether both treatments can be used together. Clinical case: A 24-month-old male patient with a diagnosis of SMA at 18 months of age. First, he was treated with intrathecal nusinersen administration and later with OAX. When assessing the CHOP INTEND and HFSME function scales, the patient showed an increase in the performance of his motor functions. Conclusion: OAX and nusinersen could be considered in sequence therapies in the presence of SMA. However, this therapy is not yet well established and has not been studied in the long term. [ABSTRACT FROM AUTHOR]

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Médica Clínica Las Condes is the property of Editorial Sanchez y Barcelo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

BACKGROUND: Spinal muscular atrophy (SMA) is the main cause of death due to genetic disease in infants. It is a disorder caused by the degeneration of the motor neurons of the anterior horn of the spinal cord. The clinical manifestations are weakness, hypotonia, atrophy and psychomotor delay. OBJECTIVE: The aim of this study is to present the clinical manifestations in mexican patients that could provide useful information to recognize promptly SMA and start the implementation of the therapeutic management. PATIENTS AND METHODS: Retrospective, retrolective, observational and descriptive study in which patients with clinical and/or molecular diagnosis of SMA were included. The main demographic and clinical characteristics of this series of patients are described. RESULTS: 31 patients, 15/31 with SMA I, 13/31 with SMA II and 3/31 with SMA III. All patients presented with muscle weakness, hypotonia and delayed psychomotor development. The diagnosis was made at an average age of 30.81 months, median of 23, minimum 2 and maximum 108 months. Genetic diagnosis was made on 23/31. Patients with SMA I had a fatal outcome. CONCLUSIONS: SMA I is the most frequent type. Severe weakness and respiratory tract infections are the most common reasons for consultation in SMA patients. Patients with SMA III have a debut of the disease with orthopedic complications, which generate disability later in life. There is a very important diagnostic delay of the disease and important therapeutic limitations in Mexico, which limits the quality of life and prognosis of patients with SMA in this country. [ABSTRACT FROM AUTHOR]

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The HTLV-1 is a neurotropic and lymphotropic virus endemic in several countries, considered the etiological agent of tropical spastic paraparesis/HTLV-1 associated myelopathy (PET/MAH) and the adult T-cell leukemia/lymphoma (ATL). It is associated with various cutaneous and systemic manifestations such as polymyositis, pulmonary alveolitis, uveitis, Sjögren syndrome, arthropathy, strongyloidiasis, cryoglobulinemia, and monoclonal gammopathy among others that produce significant morbidity in infected. [ABSTRACT FROM AUTHOR]

Copyright of Revista Chilena de Pediatría is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: The spinal cord infarct is an uncommon entity and may be produced by diverse causes and different mechanisms. Generally, the damage is irreversible and the patients die in relation with complications of the prostration. It is described, by the scientific and educational importance, a case with infarct of the spinal cord, the probable cause of it, and clinic presentation. Clinical case: 47-years woman, with severe spondiloarthrosis, antecedent of arterial hypertension (without treatment) and overweight. During prolonged flexion of the trunk and hyperextension of the neck, she presented an acute high dorsal pain, paralysis of arms and legs and loss of pain sensation and temperature below T3-T4 levels; it was accompanied by dysfunction of sphincters. The magnetic resonance image was useful in the diagnosis and very important to exclude other causes of acute myelopathy. The patient had a stable evolution during two months, without recovery of symptoms in spite of the treatment. The death occurred in respiratory insufficiency by bacterial bronchopneumonia and generalized sepsis. Conclusions: The infarction of spinal cord, although uncommon, may be observed in the clinic practice and we must think this possibility in presence of acute disorder of the spinal cord, principally in patients with risk factors. [ABSTRACT FROM AUTHOR]

Copyright of Cirugía y Cirujanos is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: A major concern for pairs undergoing assisted reproduction treatment with donated gametes is the possibility of acquiring infectious diseases or transmitting genetic diseases to their offspring. Some reports have been based on the legislation of each country and each centre's experience referring to the type of genetic infectious and/or psychological evaluation which gamete donors must undergo. There is no specific law in Colombia about assisted reproduction and/ or gamete donor techniques; also, there is no clarity about whether donors should be genetically evaluated and which type of test should be used for this. Objective: This document was aimed at making a reflection about the pertinence of genetically evaluating gamete donors by characterising the main genetic conditions prevailing in the Colombian population, base genetic alteration and the method currently being used for genetic diagnosis. Conclusion: It was concluded that a clear national protocol must be developed about genetic evaluation in gamete-donating patients; this should also be done in assisted reproduction centres. [ABSTRACT FROM AUTHOR]

Werdnig-Hoffmann Syndrome or Spinal Muscular Atrophy (SMA) of childhood is a disease of autosomal recessive neuromuscular and degenerative origin, some prevalent in the general population, characterized by motor neurons destruction in anterior spinal cord due to chromosomal abnormalities. The disease has no treatment, had poor prognosis, and usually ends in child death in her/his first years of life caused by respiratory distress, respiratory infection, or both. This paper describes a case of SMA with and evident pedigree with a tipical inheritance pattern, and symptoms and signs that characterize this entity. [ABSTRACT FROM AUTHOR]

Copyright of Cirugía y Cirujanos is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Camptocormia is more of a syndrome rather than a sign, which was first described in 1818 by Brodie but was coined in 1915 by Rosanoff-Saloff Souques and originally considered as a psychogenic disorder found in soldiers who had been sent to the front lines in the First and Second World Wars. With time we have found it is becoming an increasingly recognized feature of parkinsonian, dystonic, and neuromuscular disorders, spinal deformities, cerebral vascular disease and other (endocrinopathies associated to drugs, etc.). This paper describes etiologies that should be suspect in patients, providing an aid for proper identification and diagnosis of these not sufficiently emphasized events causing less experienced doctors to miss them altogether. [ABSTRACT FROM AUTHOR]