RESUMO
The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. In these forms, muscle weakness, contractures, and cardiac impairment are common. In an autosomal dominant pedigree including 5 affected patients, NGS molecular analysis performed in 6 relatives identifies the heterozygous c.1129C>T p.Arg377Cys variant in the exon 6 of the LMNA gene in three of them. Clinical, laboratorial, imaging investigation of these affected patients showed a significant clinical variability: the father presented subclinical imaging muscular dystrophy masqueraded as radiculopathy. One of his sons presented cardiac arrhythmia, muscular weakness, elbow contractures, and intranuclear pseudoinclusions on muscle biopsy. A second son presented only decreased tendon reflexes. Two other brothers presenting myalgia and cramps were not carriers of the same mutation in the LMNA gene. Early diagnosis, considering these variable phenotype and genotype, is important for genetic counseling, as well as cardiac, and rehabilitation management.
Assuntos
Variação Biológica da População , Lamina Tipo A/genética , Distrofia Muscular de Emery-Dreifuss/patologia , Linhagem , Adulto , Diagnóstico Diferencial , Feminino , Testes Genéticos , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Muscular de Emery-Dreifuss/diagnóstico por imagem , Distrofia Muscular de Emery-Dreifuss/genética , Mutação de Sentido IncorretoRESUMO
Limb girdle muscular dystrophy type 2 G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46 years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions. Her first clinical signs were identified at 8 years old, which include tiptoe walking, left lower limb deformity, and frequent falls. Ambulation loss occurred at 41 years old, and now, at 54 years old, she presented pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, and absent tendon reflexes. The presence of nemaline bodies could be a secondary phenomenon, possibly associated with focal Z-line abnormalities of a long-standing disease. However, these new histopathological findings, characteristic of congenital myopathies, expand muscle phenotypic variability of telethoninopathy.
Assuntos
Fibras Musculares Esqueléticas/patologia , Distrofia Muscular do Cíngulo dos Membros/genética , Fenótipo , Criança , Conectina/genética , Feminino , Humanos , Mitocôndrias/ultraestrutura , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Polimorfismo de Nucleotídeo Único , Sarcolema/ultraestruturaRESUMO
In two field-collected populations of de Bemisia tabaci (Gennadius) B biotype previously selected with the neonicotinoid insecticide thiamethoxam (NEO-R, NEO-N), and a population susceptible to insecticides (SUSC), the level of response to the insecticide thiametoxam, as well as the life and fertility tables were determined. At LC95, the NEO-R population showed a resistance ratio (RR95) value of 8.8-fold, an intrinsic rate of increase (r m) of 0.72. The fitness of the NEO-R and NEO-N populations in relation to the SUSC was 1.5 and 2.0, respectively. The RR95 value for NEO-N was 1.9-fold; it's r m value was 0.082, while in the SUSC population was 0.041. The developmental time of egg and adult were longer in NEO-R population, while the nymph and pupa lasted longer in the NEO-N and SUSC populations. The developmental time was different in the three NEO-R, NEO-N, and SUSC populations with 19.7 d (315.84 degree days or dd), 15.7 d (250.4 dd) and 18.5 d (296.6 d), respectively. The populations previously selected with thiamethoxam did not reproduce faster than their susceptible counterpart.
Assuntos
Hemípteros/efeitos dos fármacos , Inseticidas/farmacologia , Nitrocompostos/farmacologia , Oxazinas/farmacologia , Tiazóis/farmacologia , Animais , Hemípteros/classificação , Hemípteros/fisiologia , Neonicotinoides , TiametoxamRESUMO
In two field-collected populations of de Bemisia tabaci (Gennadius) B biotype previously selected with the neonicotinoid insecticide thiamethoxam (NEO-R, NEO-N), and a population susceptible to insecticides (SUSC), the level of response to the insecticide thiametoxam, as well as the life and fertility tables were determined. At LC95, the NEO-R population showed a resistance ratio (RR95) value of 8.8-fold, an intrinsic rate of increase (r m) of 0.72. The fitness of the NEO-R and NEO-N populations in relation to the SUSC was 1.5 and 2.0, respectively. The RR95 value for NEO-N was 1.9-fold; it's r m value was 0.082, while in the SUSC population was 0.041. The developmental time of egg and adult were longer in NEO-R population, while the nymph and pupa lasted longer in the NEO-N and SUSC populations. The developmental time was different in the three NEO-R, NEO-N, and SUSC populations with 19.7 d (315.84 degree days or dd), 15.7 d (250.4 dd) and 18.5 d (296.6 d), respectively. The populations previously selected with thiamethoxam did not reproduce faster than their susceptible counterpart.
Assuntos
Animais , Hemípteros/efeitos dos fármacos , Inseticidas/farmacologia , Nitrocompostos/farmacologia , Oxazinas/farmacologia , Tiazóis/farmacologia , Hemípteros/classificação , Hemípteros/fisiologiaRESUMO
PURPOSE: To assess disability and healthcare resource use in Parkinson's disease (PD) patients. METHODS: A cross-sectional survey of 144 Brazilian PD patients consecutively admitted at a Neurological outpatient clinic. Clinical evaluation was done using the Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn & Yahr staging (H&Y). The Schwab and England (SE) activity of daily living (ADL) scale was used to assess the level of dependence in the ADL. Information about the utilization of health resources was obtained interviewing the patient by means of a structured questionnaire. RESULTS: A total of 66% of patients (mean age 62 years; males, 53%) had a Hoehn & Yahr stage < or = 2. Mean UPDRS score was 46.2, and median SE scale score was 80. Disabled PD patients significantly received more visits by a general practitioner (p < 0.001). Patients with comorbid conditions significantly used more domiciliary nurse care and physiotherapist assistance (p < 0.01). The most frequent reason for hospitalization was the treatment of clinical complications and drug dose adjustment. Pharmacological treatment costs were associated with the severity of the disease (p < 0.05). CONCLUSION: Utilization of healthcare resources was influenced by functional status and comorbid conditions.
Assuntos
Efeitos Psicossociais da Doença , Serviços de Saúde/estatística & dados numéricos , Doença de Parkinson/epidemiologia , Atividades Cotidianas , Antiparkinsonianos/economia , Antiparkinsonianos/uso terapêutico , Brasil/epidemiologia , Comorbidade , Estudos Transversais , Custos de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Visita a Consultório Médico/estatística & dados numéricos , Doença de Parkinson/economia , Aceitação pelo Paciente de Cuidados de Saúde , Médicos de Família , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
The adoption of cotton producing insecticidal proteins of Bacillus thuringiensis, commonly referred to as Bt cotton, around the world has proven to be beneficial for growers and the environment. The effectiveness of this important genetically-modified crop can be jeopardized by the development of resistance to Bt cotton by pests it is meant to control, with the possibility that this phenomenon could develop in one country and spread to another by means of insect migration. To preserve the effectiveness of this agricultural biotechnology, regulatory agencies have developed plans to mitigate the development of resistance, and research institutions constantly monitor for shifts in Bt-susceptibility in important pests. If Bt-resistance is detected, this finding needs to be corroborated by an independent laboratory according to current regulatory requirements; a process that presents numerous challenges. We investigated the biological activity of Bt-incorporated diet on Helicoverpa virescens L. after it was stored for several days at different temperatures. Diet stored up to nine days at different temperatures (-14 to 27 degrees C) produced the same biological effect on H. virescens as freshly-prepared diet. Elevating the temperature of Bt stock solution to 76 degrees C as compared to 26 degrees C yielded significantly higher reading of apparent Cry1Ac concentration from MVP II, but not enough to elicit a significant biological response when these stock solutions were incorporated into insect artificial diet. These findings are important particularly when the confirmation of resistance is done at a distant location, such as Mexico, or when diet is shared between laboratories, and must be stored for later use, as in the case of international collaboration.
Assuntos
Bacillus thuringiensis/fisiologia , Proteínas de Bactérias/toxicidade , Toxinas Bacterianas/toxicidade , Endotoxinas/toxicidade , Monitoramento Ambiental/métodos , Proteínas Hemolisinas/toxicidade , Resistência a Inseticidas/efeitos dos fármacos , Inseticidas/toxicidade , Cooperação Internacional , Mariposas/efeitos dos fármacos , Animais , Toxinas de Bacillus thuringiensis , Proteínas de Bactérias/genética , Toxinas Bacterianas/genética , Dieta , Endotoxinas/genética , Gossypium , Proteínas Hemolisinas/genética , Resistência a Inseticidas/genética , Larva/efeitos dos fármacos , Larva/crescimento & desenvolvimento , México , Mariposas/crescimento & desenvolvimento , Controle Biológico de Vetores/métodos , Plantas Geneticamente Modificadas , Temperatura , Fatores de Tempo , Estados UnidosRESUMO
Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.