scholarly journals SÍNDROME DE WERDNIG-HOFFMAN: ASPECTOS PATOLÓGICOS E OS SABERES DA ENFERMAGEM

2017 ◽  
Vol 7 (20) ◽  
pp. 40
Author(s):  
Márcia Gisele Peixoto Kades ◽  
Maria Eduarda Silvano de Aquino ◽  
Laurindo Pereira de Souza
Keyword(s):  
Age Of Onset ◽  
Muscular Atrophy ◽  
Motor Impairment ◽  
Severe Form ◽  
Respiratory Impairment ◽  
Severe Motor ◽  
Relevant Role ◽  
Spinal Muscular Atrophies ◽  
Nursing Professionals ◽  
Werdnig Hoffmann

Objetivou-se descrever a Síndrome de Werdnig-Hoffmann, suas características funcionais, e o conhecimento dos profissionais de enfermagem diante do paciente portador de SWH. Trata-se de um estudo descritivo de revisão bibliográfica, produzida entre os anos de 2005 a 2016. Os dados foram coletados em revistas e periódicos disponíveis na internet, através de busca em base de dados indexadas na BVS: LILACS, SCIELO e ARCA (Repositório Institucional da FioCruz). A pesquisa revelou clinicamente que as Atrofias Musculares Espinhais (AME) compreendem quatro patologias classificadas de acordo com a idade de aparecimento dos sintomas e o grau do comprometimento motor. O tipo 1, denominado AME Infantil ou Síndrome de Werdnig-Hoffmann, objeto deste estudo, apresenta-se como forma mais grave da doença, manifesta-se precocemente entre o período pré-natal e os seis meses de vida ou imediatamente após o nascimento e caracteriza-se por grave comprometimento motor e respiratório. O estudo concluiu que a enfermagem tem papel relevante na abordagem do paciente portados de SWH, seja hospitalizado ou prestando cuidados e orientações em domicilio.Descritores: Enfermagem, Síndrome de Werdnig-Hoffmann, Atrofia Muscular Espinhal. Werdnig-Hoffman syndrome: patological aspects and nursing knowledgeAbstract: The objective of this study was to describe Werdnig-Hoffmann's syndrome, its functional characteristics, and the nursing professionals' knowledge regarding the patient with SWH. This is a descriptive study of bibliographic review, produced between 2005 and 2016. Data were collected in journals and periodicals available on the Internet, through a search in a database indexed in the VHL: LILACS, SCIELO and ARCA (Repository Institutional of FioCruz). The research clinically revealed that Spinal Muscular Atrophies (AME) comprise four pathologies classified according to the age of onset of symptoms and the degree of motor impairment. Type 1, referred to as AME, or Werdnig-Hoffmann syndrome, is the most severe form of the disease. It manifests itself early between the prenatal period and six months of life or immediately after birth. Is characterized by severe motor and respiratory impairment. The study concluded that nursing plays a relevant role in the approach of the patient carried SWH, whether hospitalized or providing care and guidance at home.Descriptors: Nursing, Werdnig-Hoffmann syndrome, Spinal Muscular Atrophy. Síndrome Werdnig-Hoffman: patológica y conocimiento de la enfermeríaResumen: Este estudio tuvo como objetivo describir el síndrome de Werdnig-Hoffmann, sus características funcionales, y el conocimiento de las enfermeras delante del paciente portador de SWH. Se trata de un estudio descriptivo de revisión de la literatura, producida entre los años 2005 a 2016. Los datos fueron recogidos en revistas y periódicos disponibles en Internet mediante la busca en la base de datos indexadas en la BVS: LILACS, SCIELO y ARCA (Repositorio la FioCruz institucional). La investigación reveló que clínicamente atrofias musculares espinales (AME) comprenden cuatro patologías clasificadas de acuerdo con la edad de aparición y grado de deterioro motor. Tipo 1, llamada AME infantil. La síndrome de Werdnig-Hoffmann, objeto de este estudio, se presenta como una forma más grave de la enfermedad se manifiesta antes, entre el período de gestación y después de los 6 meses de vida o inmediatamente después del nacimiento y se caracteriza por grave comprometimiento motor y severa comprometimiento respiratorio. El estudio concluí que la enfermería desempeña un papel importante en el portador de SWH y el paciente, ya sea hospitalizado en la prestación de atención y orientación, y en el hogar.Descriptores: Enfermería, Síndrome de Werdnig-Hoffmann, Atrofia Muscular Espinal.

THE ANATOMICAL IDENTITY OF THE WERDNIG-HOFFMANN AND OPPENHEIM FORMS OF INFANTILE MUSCULAR ATROPHY

Brain ◽  
1927 ◽  
Vol 50 (3-4) ◽  
pp. 652-686 ◽  
Author(s):  
J. GODWIN GREENFIELD ◽  
RUBY O. STERN
Keyword(s):  
Muscular Atrophy ◽  
Werdnig Hoffmann

scholarly journals Blocking Tics in Gilles de la Tourette Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Justyna Kaczyńska ◽  
Piotr Janik
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Tourette Syndrome ◽  
Age Of Onset ◽  
Severe Form ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Clinical Correlates ◽  
Clinical Associations ◽  
Motor Acts

Introduction: Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients.Materials and Methods: We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5–66 years (mean age: 15.0 ± 9.2; 47 females, 24.1%). All patients were personally interviewed and examined.Results: At least one BT occurred at some point in the lifetime of 73 patients (37.4%) with a mean age of onset of 10.4 ± 5.9 years. BTs occurred an average of 4.8 ± 5.3 years after tic onset. The most common BT was cessation of walking (n = 59, 80.8%), followed by speech (n = 19, 26.0%), running (n = 18, 24.7%), and writing (n = 9, 12.3%). Most of the patients (n = 52, 71.2%) reported cessation of only one activity. Clinical associations of BTs included more severe tics, overall greater number of tics, and, to a lesser extent, higher age at evaluation and comorbid obsessive-compulsive disorder.Conclusions: BTs represent complex tics, early and common symptoms of GTS, and are associated with a more severe form of GTS.

scholarly journals Pharmacological, morphological and behavioral analysis of motor impairment in experimentally vitamin C deficient guinea pigs

2003 ◽  
Vol 61 (1) ◽  
pp. 25-33 ◽  
Author(s):  
Reinaldo Barreto Oriá ◽  
Carlos Maurício de Castro Costa ◽  
Terezinha de Jesus Teixeira Santos ◽  
Carlos Meton de Alencar G. Vieira
Keyword(s):  
Spinal Cord ◽  
Vitamin C ◽  
Motor Neuron ◽  
Guinea Pigs ◽  
Muscular Atrophy ◽  
Motor Impairment ◽  
Protective Role ◽  
Morphometric Study ◽  
Nutritional Deficit ◽  
Neuron Cell Body

The scurvy shows an inflammatory disease and gingival bleeding. Nevertheless, in an animal model for guinea pigs, described by Den Hartog Jager in 1985, scurvy was associated with a motor neuron disease with demyelinization of the pyramidal tract, provoking neurogenic atrophy of muscles. Aiming at searching the protective role of vitamin C in nervous system, a pharmacological, morphological and behavioral study was conducted. Three experimental groups were used: A100, animals receiving 100 mg/ vitamin C/ day; A5.0, animals receiving 5.0 mg/vitamin C/ day; and A0, animals without vitamin C. We analyzed the weight gain, muscular diameter and behavioral tests. In all tests examined, we found significant differences between the supplemented groups in comparison with scorbutic group (p<0.05). Thereafter, the animals were killed for histopathology of gastrocnemius muscle, spinal cord and tooth tissues. In addition, a morphometric study of periodontal thickness and alpha-motor neuron cell body diameter were done. The vitamin C-diet free regimen seemed to induce a disruption in spinal cord morphology, involving the lower motor neuron, as confirmed by a significant reduction in neuron perycaria diameter and muscular atrophy, complicated by increased nutritional deficit.

3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII)

2019 ◽  
Vol 42 (5) ◽  
pp. 500-508 ◽  
Author(s):  
Valentina Pucciarelli ◽  
Daniele Gibelli ◽  
Chiara Mastella ◽  
Simona Bertoli ◽  
Katia Alberti ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Sagittal Plane ◽  
Muscular Atrophy ◽  
Principal Component ◽  
Standards Of Care ◽  
Facial Morphology ◽  
Type Ii ◽  
Feeding Problems ◽  
Respiratory Impairment ◽  
Number Of Patients

Summary Objectives The main objective of this study was to assess the three-dimensional facial characteristics of children affected by spinal muscular atrophy (SMA), a severe muscular disorder characterized by hypotonia, areflexia, weakness, and respiratory impairment. Materials/Methods Stereophotogrammetric facial scans from 22 SMA type II patients aged 2–7 years were obtained. Data were analysed using both inter-landmark distances and principal component analysis and compared with data collected from matched control subjects. Results Patients had wider transverse facial diameters, but smaller biocular width. Middle and lower anterior face heights were increased, whereas the mandibular ramus was shorter, with a reduced posterior-to-anterior face height ratio. Facial width-to-length ratio was reduced. In the sagittal plane, mandibular body length, and facial divergence were increased, whereas the gonial angles were decreased. In the horizontal plane, lower facial convexity was greater in patients, whereas mandibular convexity was smaller. Patients had smaller and down-slanted eye fissures, with a larger and more vertically developed nose. Limitations This study assessed a relatively small number of patients, due to the rare frequency of SMA type II. Conclusions/Implications SMA type II children possess peculiar facial alterations that may be due to the altered muscular activity. As feeding problems may derive also by malocclusion and masticatory muscular alterations, a detailed assessment of the craniofacial individual alterations should be considered in the standards of care of these patients.

Spinal Muscular Atrophy

2017 ◽  
Author(s):  
Arthur H. M. Burghes ◽  
Vicki L. McGovern
Keyword(s):  
Motor Neuron ◽  
Gene Locus ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Autosomal Recessive Disorder ◽  
Clinical Testing ◽  
Smn1 Gene ◽  
Smn2 Gene ◽  
Spinal Muscular Atrophies ◽  
Smn Gene

Spinal muscular atrophies affect the lower motor neuron. The most common SMA maps to 5q is an autosomal recessive disorder. SMA is caused by loss or mutation of the SMN1 gene and retention of the SMN2 gene, and these genes lie in a complex area of the genome. Mild missense alleles of SMN1 work to complement SMN2 to give function and therapeutics that restore SMN levels are in clinical testing. Modifiers that lie outside the SMN gene locus and influence severity clearly exist, but what they are remains unknown as do the critical genes affected by SMN deficiency.

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