Papers by Eduardo B O I T E U X U C H Ô A Cavalcanti
Arquivos de Neuro-Psiquiatria, 2023
Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditi... more Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature. Its prevalence varies according to different populations studied, with an estimate between 1:2,500 to 1:10,000. Since the identification of PMP22 gene duplication on chromosome 17 by Vance et al., in 1989, more than 100 genes have been related to this group of disorders, and we have seen advances in the care of patients, with identification of associated conditions and better supportive treatments, including clinical and surgical interventions. Also, with discoveries in the field of genetics, including RNA interference and gene editing techniques, new treatment perspectives begin to emerge. In the present work, we report the most import landmarks regarding CMT research in Brazil and provide a comprehensive review on topics such as frequency of different genes associated with CMT in our population, prevalence of pain, impact on pregnancy, respiratory features, and development of new therapies.
Journal of Peripheral Nervous System, 2021
This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie... more This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. This retrospective observational study conducted between February 2015 and July 2020 evaluated 503 patients (94 families and 192 unrelated individuals), diagnosed with CMT. Clinical and neurophysiological data were obtained from electronic medical records and blood samples were used for genetic analyses. Multiplex ligation-dependent probe amplification was used to assess duplications/deletions in PMP22. Sanger sequencing of GJB1 was performed in cases of suspected demyelinating CMT. Targeted gene panel sequencing was used for the remaining negative demyelinating cases and all axonal CMT cases. The first decade of life was the most common period of disease onset. In all, 353 patients had demyelinating CMT, 39 had intermediate CMT, and 111 had axonal
Arquivos de Neuro-Psiquiatria, 2017
Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) too... more Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents. RESUMO Avanços na compreensão e no manejo da distrofia muscular de Duchenne (DMD) ocorreram desde a publicação de diretrizes internacionais em 2010. Nosso objetivo foi elaborar um consenso nacional baseado em evidências de cuidado multidisciplinar dos pacientes com DMD no Brasil. Utilizamos a técnica de Delphi combinada com revisão sistemática da literatura de 2010 a 2016 classificando níveis de evidência e graus de recomendação. Nossas recomendações foram divididas em duas partes. Apresentamos aqui a parte 1, descrevendo a metodologia utilizada e conceitos gerais da doença, e fornecemos recomendações sobre diagnóstico, tratamento com corticosteroides e novas perspectivas de tratamentos medicamentosos. As principais recomendações: 1) testes genéticos deveriam ser a primeira linha para confirmação de casos suspeitos; 2) pacientes com diagnóstico de DMD devem receber corticosteroides; 3) por enquanto, a falta de publicações de resultados dos ensaios clínicos de fase 3, dificulta recomendações de uso medicamentos que "saltam exons" ou "passam" por código de parada prematura.
Radiology and Diagnostic Imaging, 2018
The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene mutation in... more The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene mutation in the pathogenesis of ischemic stroke has been a topic of growing interest. Reports available in literature describe this association, primarily in cases of pediatric stroke. We report a case of a 23-year-old woman presented to the SARAH Network of Rehabilitation Hospitals with a history of recurrent ischemic strokes during infancy and an etiological diagnosis of Moyamoya syndrome. Evaluation revealed mild elevation of serum homocysteine levels and a homozygous MTHFR gene mutation, no other associated abnormalities were detected. There is evidence of the presence of these abnormalities in some cases of pediatric ischemic stroke in the clinical setting. Data are limited regarding the role of hyperhomocysteinemia and an MTHFR gene mutation in causing vascular lesions/damage. Further studies involving patients with ischemic stroke (primarily those with arterial occlusion), are warranted to better establish such a correlation.
The Neurologist, 2017
Introduction: The societal and economic impact of ischemic stroke in
young adults is considerable... more Introduction: The societal and economic impact of ischemic stroke in
young adults is considerable. The etiological investigation of ischemic
stroke in this population is also challenging. Objective: To describe the characteristics of young patients with ischemic stroke admitted to a neurological rehabilitation program in Brazil. Methods: This transversal retrospective study analyzed data from the electronic health records of 134 patients aged 18 to 45 years with ischemic stroke admitted from 2008 to 2012. Results: The average patient age at the time of ictus was 33 years; 56% of the subjects were female, and 29.3% had undetermined etiologies of Stroke, on the basis of both TOAST and SSS TOAST criteria. Further, 48.7% of the subjects had a known vascular risk factor, which was arterial hypertension in most cases. The results of thrombophilia testing were positive in 13.7% of patients, but in only 3.7% of patients, thrombophilia was determined to be the causal mechanism of the stroke. There was a significant association between thrombophilia and patent foramen ovale, but no significant association was found between thrombophilia and arterial dissection. Among the patients with artery dissections, 46% had a history of trauma, which was statistically significant. Conclusions: Etiological diagnosis of stroke in the young is challenging for clinicians. Hence, a more effective classification scheme, better investigative mechanisms, and correct determination of causal associations in ischemic stroke are needed. Thrombophilia screening should be performed in the presence of relevant clinical signs and/or
family history.
Annals of Clinical and Translational Neurology, 2019
Objective: ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) a... more Objective: ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods: A national cross-sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying reces-sive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results: Thirty-seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseu-dometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCK-emia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gas-trocnemius, but paraspinal and abdominal muscles, when studied, were involved ª
Clinical Genetics, 2019
Limb girdle muscular dystrophies (LGMD) are a group of genetically
heterogeneous disorders charac... more Limb girdle muscular dystrophies (LGMD) are a group of genetically
heterogeneous disorders characterized by predominantly proximal muscle
weakness. We aimed to characterize epidemiological, clinical and molecular
data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A
multicenter historical cohort study was performed at 13 centers, in which index
cases and their affected relatives’ data from consecutive families with genetic or
pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to
August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-
calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies
were built and progressions according to sex and genotype were estimated. In
370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were
LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related,
each representing around 30% of families. Sarcoglycanopathies were the most
frequent childhood-onset subtype, representing 21% of families. Five percent of
families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype
worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe
progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related
patients with truncating variants had earlier disease onset and more severe
progression to handicap than patients without truncating variants. We have
provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that
This article is protected by copyright. All rights reserved.Winckler et al.
might help on differential diagnosis, better patient care and guiding future
collaborative clinical trials and natural history studies in the field.
Revista Neurociências, 2008
RESUMO Introdução. A esclerose lateral amiotrófica (ELA) é uma doença pro-gressiva e fatal que af... more RESUMO Introdução. A esclerose lateral amiotrófica (ELA) é uma doença pro-gressiva e fatal que afeta os neurônios do feixe piramidal e da ponta anterior da medula espinhal. Inúmeras avaliações têm sido propostas no sentido de fornecer um melhor acompanhamento dos indivíduos e ge-renciamento das complicações secundárias. Apresentamos, no presente estudo, um novo instrumento para acompanhamento clínico e reabili-tativo de pacientes com ELA. Método. Avaliamos 96 pacientes con-secutivos com diagnóstico de ELA, no Hospital Universitário Antonio Pedro e no Instituto de Neurologia Deolindo Couto com a Escala de Gravidade e Habilidade Funcional. Resultados. Estes dados prelimi-nares permitiram delinear uma escala de 5 domínios que mensuram 1) força muscular em miótomos específicos, 2) habilidades funcionais, 3) deglutição 4) respiração, and 5) estágio de gravidade da doença. As ca-racterísticas clínicas e manifestações funcionais dos pacientes com ELA foram heterogêneas em relação as complicações mais freqüentes e ao nível de independência funcional. Conclusão. Estes resultados prelimi-nares sugerem que nossa escala de 5 domínios é simples, de fácil aplica-bilidade, não demorada, assim como facilmente reprodutível a respeito do curso clínico e do prognóstico dos pacientes com ELA. Nosso estudo piloto garante a etapa seguinte de nossa pesquisa que inclui a exatidão, validade interna, a confiabilidade, análise fatorial e outros procedimen-tos metodológicos e estatísticos formais necessários. Unitermos: Esclerose Lateral Amiotrófica. Escalas. Doenças Neuromusculares. SUMMARY Introduction. Amyotrophic lateral sclerosis (ALS) is a progressive and fatal illness that affects the neurons of the pyramidal tracts and the anterior horn of the spinal cord. Many evaluations methods have been proposed in order to supply better follow-up information of patients as well as improved management of secondary complications. We present, in this study, a new instrument for clinical and rehabilitation follow-up of patients with ALS. Method. We evaluated 96 consecutive patients with diagnosis of ALS, in the University Hospital Antonio Pedro and in the Institute of Neurology Deolindo Couto through the Severity and Functional Ability Scale. Results. This preliminary data allowed us to delineate a 5 domain scale that measure 1) muscle strength myotome specific, 2) functional abilities, 3) swallowing function, and 4) breathing, and 5) disease stage severity. Clinical features and functional manifestations of ALS patients were heterogeneous regarding to the most frequent clinical complications and independence levels. Conclusion. These preliminary results suggest that our 5 domain scale is simple, applicable, not time consuming of, as well as easily reproducible regarding clinical course and prognosis of patients with ALS. Our pilot study grants the next step of our research that includes accuracy, internal validity, reliability , factorial analysis and other needed formal methodological and statistical procedures.
Revista Dor, 2016
BACKGROUND AND OBJECTIVES: Diabetic neuropathy is a major cause of neuropathy worldwide and may l... more BACKGROUND AND OBJECTIVES: Diabetic neuropathy is a major cause of neuropathy worldwide and may lead to amputations and incapacity. This study aimed at a detailed and updated review on diabetic neuropathy, focusing on its classification, diagnostic investigation and treatment. CONTENTS: It is estimated that 371 million people aged from 20 to 79 years, worldwide, have diabetes mellitus and that at least half of them are unware of the diagnosis. Its prevalence in Central and South America was estimated in 26.4 million people, corresponding to approximately 6.5% of the population. Among microvascular complications, diabetic neuropathy is the most prevalent, leading to the highest rates of hospitalization, atraumatic amputations and incapacity. Diabetic neuropathy may have different clinical presentations, being distal symmetric polyneuropathy its most frequent presentation and major mechanism to the development of diabetic foot. Predominantly it presents with positive (burning, tingling) and negative (numbness, loss of sensitivity) sensory symptoms. In general it is associated to autonomic signs and symptoms and seldom there is motor manifestation. Approximately 20% of patients with distal symmetric polyneuropathy have neuropathic pain, which sometimes becomes chronic and disabling. CONCLUSION: Early and accurate diagnosis allows for adequate treatment , preventing progression of neuropathy and severe complications. For such, it is necessary to obtain an acurate clinical history, in addition to thorough neurological tests and additional tests, to identify signs of nervous fibers involvement. Its treatment depends on adequate glycemic control and neuropathic pain treatment, when present.
Arquivos de neuro-psiquiatria, 2012
articles by Eduardo B O I T E U X U C H Ô A Cavalcanti
2015 Peripheral Nerve Society Biennial Meeting, 2015
A 37-year-old women presented with a 15-year history of
slowly progressive atrophy and weakness i... more A 37-year-old women presented with a 15-year history of
slowly progressive atrophy and weakness in the right lower
extremity. She also complained of mild pain and paresthesia
over the dorsum of the right foot. The electrophysiological
study revealed chronic axonal damage in the right sciatic
nerve. The magnetic resonance imaging of the right thigh and
lumbosacral plexus disclosed a right sciatic nerve fusiform
mass and enlarged lumbosacral roots. The patient underwent
a right sural nerve biopsy and the pathological investigation
demonstrated onion bulb-shaped whorls consistent with the
appearance of intraneural perineurioma, a focal hypertrophic
peripheral nerve tumor, WHO grade I. Rare cases may be due
to loss of ARSA at 22q13. According to the literature, these
tumours are static or slowly progressive, remain confined to
their original distribution and have low morbidity. Because of
the intensive evaluation needed for diagnosis, this condition
is probably under-recognized.
Objective: This study aimed to present a retrospective detailed analysis of two non related subje... more Objective: This study aimed to present a retrospective detailed analysis of two non related subjects with diagnosis of hereditary neuropathy related to DYNC1H1 mutation.Background: DYNC1H1 encodes the dynein cytoplasmic 1 heavy chain 1, a motor protein complex involved in retrograde axonal transport, neuronal migration, and other intracellular motility functions. Mutations in this gene have been previously associated with Charcot-Marie-Tooth type 2O (CMT2O) and distal spinal muscular atrophy - lower extremity dominant (SMA-LED). Recently, defects of cytoplasmic dynein 1 were also associated with spastic paraparesis, severe intellectual disability, and variable neuronal migration defects.Design/Methods: We searched in our patient registry for subjects who were diagnosed with hereditary neuropathy related to DYNC1H1 mutation, between 2015 and 2017. Then, we retrospectively reviewed the clinical, radiological, neurophysiological, and genetic data of the two identified subjects.Both patients were evaluated by targeted next-generation sequencing for variants in DYNC1H1 along with 21 CMT2/inherited neuronopathies genes (Illumina´s DesignStudio).Results: According to clinical findings and nerve conduction studies, one of the subjects, a 20-year-old female, was classified as CMT2O and the other, a 27-year-old female, was classified as distal hereditary motor neuropathy (dHMN).Both subjects had ulnar motor conduction velocity >= 45 m/s and normal brain MRI scans. Muscle MRI of the patient with dHMN demonstrated prominent fatty infiltration of gastrocnemius and soleus and mild involvement of sartorius muscle.Two novel mutations of DYNC1H1 were identified, one associated with CMT2O [c.4484 A>G (p.Asn1495Ser)] and other with dHMN [c.13385 G>A (p.Arg4462Gln] phenotype. The in silico analysis results suggest that both new mutations are pathogenic (UMD predictor score = 84/100 and 93/100, respectively).Conclusions: This is the first time that mutations of DYNC1H1 are reported in Brazilian population and more studies are need to evaluate their prevalence. Mutations of DYNC1H1 should be investigated in cases of severe early-onset CMT2 and dHMN.
Objective: Describe a series of cases of CMTX1 in Brazil and perform clinical and mutation analys... more Objective: Describe a series of cases of CMTX1 in Brazil and perform clinical and mutation analysis Background: The X-linked Charcot-Marie-Tooth type 1 disease (CMTX1) is the second most common form of hereditary sensory-motor neuropathy, representing about 15 to 20[percnt] of cases of CMT. More than 400 mutations have been described in the Gap Junction Beta 1 (GJB1) gene, which is located in Xq13 (Bergoffen et al, 1993). Although patients have the genetic defect located at the same gene, they often present with a wide range of clinical disability and variable age of onset. In Latin America, there are no published data about the prevalence of CMT1X or about the clinical, electrophysiological and genetic profile. Methods: Between 2010 and 2015, 44 patients divided in 14 families and 6 unrelated individuals from 3 different regions of Brazil (Northeast, Southeast and West Centre) have been evaluated in our services and submitted to nerve conduction studies and genetic testing for CMTX1. Results: Molecular analysis identified 13 different GJB1 mutations in 13 families, with two novel mutation (c.12_21delGGTTTGTA (p.G5fs) and c.127 G>A (p.V43L)), and 5 different mutations in 6 unrelated patients, with one novel mutation (c.133_134delGG (p.G44X)). Conclusions: The GJB1 mutation represents the second most frequent cause of CMT1 in our service, despite the fact that CMT1C and 1F investigation was not performed. To our knowledge, this is first series of cases in Brazil and the largest cohort of CMTX1 patients reported in Latin America.Disclosure:
Conference Presentations by Eduardo B O I T E U X U C H Ô A Cavalcanti
Journal of the Peripheral Nervous System, 2021
Introduction: Amyloidosis refers to a group of protein misfolding diseases, pathologically charac... more Introduction: Amyloidosis refers to a group of protein misfolding diseases, pathologically characterized by extracellular amyloid fibrils pro- ducing amorphous congophilic deposist in several different tissues, with heterogeneous phenotype, depending on which tissues are affected. β2-microglobulin (B2M) is the causing agent of dialysis related amyloidosis (DRA), affecting bones and cartilages of individ- uals with chronic renal failure undergoing long-term dialysis, and of a hereditary amyloidosis, previously described in a French family. Unlike patients with DRA caused by sustained high plasma concentrations of wild-type B2M, those affected by hereditary amyloidosis related to B2M mutations had severe autonomic dysfunction with normal renal function and β2-microglobulin levels.
Methods: Clinical data were collected from the EMR of a 67-year-old female with hereditary systemic amyloidosis and a positive familiar history for this condition. A review of literature was conducted to identify additional reports and compare data to our results. Results: We describe a 67 year-old female with slowly progressive gastrointestinal symptoms and peripheral neuropathy, who had onset of symptoms at 59 years and with a positive familiar history for amy- loidosis characterized by autosomal dominant pattern of inheritance. The neurophysiological study demonstrated an axonal motor and sen- sory neuropathy. Serum biochemical measurements were normal, including creatinine and β2-microglobulin levels. PET-CT did not show hypermetabolic lesions and tilt-test revealed signs of dysautonomia and sustained sinus tachycardia. Amyloid deposits were detected by Congo red staining of sections of formalin-fixed, wax-embedded biopsy specimens from abdominal fat pad and minor salivary gland. No pathogenic variant was identified in TTR gene sequencing. Whole exome sequencing revealed an heterozygous pathogenic variant c.286 G > A p.(Asp96Asn) in B2M gene. Conclusions: The clinical course of the disease in our patient is in accordance with previously described cases. This report highlights the diagnostic challenge of B2M amyloidosis and the importance of inves- tigating other forms of hereditary amyloidosis in addition to that related to TTR gene.
XXIV Congresso Brasileiro de Neurologia, 2010
OBJETIVOS: A encefalopatia de Wernicke é caracterizada
clinicamente pela tríade clássica de ataxi... more OBJETIVOS: A encefalopatia de Wernicke é caracterizada
clinicamente pela tríade clássica de ataxia, oftalmoplegia e
confusão mental e se não tratada prontamente, cursa com
mortalidade e morbidade consideráveis, inclusive com seqüelas
importantes. Este estudo visa mostrar a importância do uso
da Ressonância Magnética (RM) no diagnótico precoce de
deficiência de tiamina (béri-béri). MÉTODOS: São apresentados
os dados clínicos, laboratoriais e de Imagem em dois pacientes
com encefalopatia de Wernicke, com ênfase nos aspectos
da Ressonância Magnética. RESULTADOS: Os achados
neurorradiológicos são característicos, podendo acometer os
corpos mamilares, o tálamo periventricular, a substância cinzenta
periaquedutal e o hipotálamo. Nas fases agudas pode haver
hemorragia, necrose, edema e realce das estruturas envolvidas,
enquanto nas fases crônicas existe atrofia, principalmente
dos corpos mamilares, o que pode ser o único achado. Há
acometimento talâmico dorso-medial, com ou sem realce póscontraste. CONCLUSÕES: Os achados neurorradiológicos são
típicos, por isso diante da suspeita de encefalopatia de Wernicke,
deve-se solicitar RM, que é considerada método padrão-ouro
para elucidação diagnóstica e detecção precoce desta doença.
XXIV Congresso Brasileiro de Neurologia , 2010
OBJETIVOS: Avaliar a eficácia e segurança de esquemas
terapêuticos (medicamentosos ou não) para t... more OBJETIVOS: Avaliar a eficácia e segurança de esquemas
terapêuticos (medicamentosos ou não) para tratamento da
dor neuropática na lepra. MÉTODOS: Consideraremos como
público alvo pacientes com lepra apresentando dor neuropática,
virgens de tratamento, ou em curso do tratamento convencional
(poliquimioterapia), ou aqueles no período pós-tratamento,
sendo um total de 60 pacientes sem neurite ativa, tratados
com amitriptilina, ou gabapentina (por divisão aleatória);
e 60 pacientes com neurite ativa, que receberão terapia
imunossupressora (prednisona, metilpredinisolona e azatioprina).
Pacientes serão avaliados quanto ao comprometimento
sensitivo com instrumentos tais como TSA, a ENMG e CHEPS.
Adesão medicamentosa será avaliada por contagem da cartela
fornecida com os medicamentos nas consultas; e pela presença
dos pacientes nas datas pré-estabelecidas para as consultas.
RESULTADOS: O projeto ainda se encontra em andamento,
porém se esperam três desfechos: manutenção da dor, apesar
do medicamento empregado; não tolerância ou não adesão ao
tratamento instituído; melhora da dor. CONCLUSÕES: Lepra é
uma doença que afeta populações de países não desenvolvidos,
preferencialmente as classes sociais mais baixas e, com isso,
não oferece um retorno lucrativo suficiente para investimentos
em pesquisa e desenvolvimento de novas terapias. O suporte do
CNPq, FINEP e Ministério da Saúde mostra a importância de estudos
voltados para o controle da dor neuropática nesta doença.
2015 Peripheral Nerve Society Biennial Meeting, 2015
A 37-year-old women presented with a 15-year history of
slowly progressive atrophy and weakness i... more A 37-year-old women presented with a 15-year history of
slowly progressive atrophy and weakness in the right lower
extremity. She also complained of mild pain and paresthesia
over the dorsum of the right foot. The electrophysiological
study revealed chronic axonal damage in the right sciatic
nerve. The magnetic resonance imaging of the right thigh and
lumbosacral plexus disclosed a right sciatic nerve fusiform
mass and enlarged lumbosacral roots. The patient underwent
a right sural nerve biopsy and the pathological investigation
demonstrated onion bulb-shaped whorls consistent with the
appearance of intraneural perineurioma, a focal hypertrophic
peripheral nerve tumor, WHO grade I. Rare cases may be due
to loss of ARSA at 22q13. According to the literature, these
tumours are static or slowly progressive, remain confined to
their original distribution and have low morbidity. Because of
the intensive evaluation needed for diagnosis, this condition
is probably under-recognized.
Books by Eduardo B O I T E U X U C H Ô A Cavalcanti
Neuropatias Perifericas, 2020
Copyright® 2020, Produzido por Editora e Eventos Omnifarma Ltda. Todos os direitos reservados par... more Copyright® 2020, Produzido por Editora e Eventos Omnifarma Ltda. Todos os direitos reservados para Editora e Eventos Omnifarma Ltda. Proibida a reprodução total ou parcial dessa obra, por qualquer meio ou sistema, sem prévio consentimento do editor. Todos os direitos dessa edição estão reservados à Editora Omnifarma & Eventos Ltda.
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Papers by Eduardo B O I T E U X U C H Ô A Cavalcanti
young adults is considerable. The etiological investigation of ischemic
stroke in this population is also challenging. Objective: To describe the characteristics of young patients with ischemic stroke admitted to a neurological rehabilitation program in Brazil. Methods: This transversal retrospective study analyzed data from the electronic health records of 134 patients aged 18 to 45 years with ischemic stroke admitted from 2008 to 2012. Results: The average patient age at the time of ictus was 33 years; 56% of the subjects were female, and 29.3% had undetermined etiologies of Stroke, on the basis of both TOAST and SSS TOAST criteria. Further, 48.7% of the subjects had a known vascular risk factor, which was arterial hypertension in most cases. The results of thrombophilia testing were positive in 13.7% of patients, but in only 3.7% of patients, thrombophilia was determined to be the causal mechanism of the stroke. There was a significant association between thrombophilia and patent foramen ovale, but no significant association was found between thrombophilia and arterial dissection. Among the patients with artery dissections, 46% had a history of trauma, which was statistically significant. Conclusions: Etiological diagnosis of stroke in the young is challenging for clinicians. Hence, a more effective classification scheme, better investigative mechanisms, and correct determination of causal associations in ischemic stroke are needed. Thrombophilia screening should be performed in the presence of relevant clinical signs and/or
family history.
heterogeneous disorders characterized by predominantly proximal muscle
weakness. We aimed to characterize epidemiological, clinical and molecular
data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A
multicenter historical cohort study was performed at 13 centers, in which index
cases and their affected relatives’ data from consecutive families with genetic or
pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to
August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-
calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies
were built and progressions according to sex and genotype were estimated. In
370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were
LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related,
each representing around 30% of families. Sarcoglycanopathies were the most
frequent childhood-onset subtype, representing 21% of families. Five percent of
families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype
worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe
progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related
patients with truncating variants had earlier disease onset and more severe
progression to handicap than patients without truncating variants. We have
provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that
This article is protected by copyright. All rights reserved.Winckler et al.
might help on differential diagnosis, better patient care and guiding future
collaborative clinical trials and natural history studies in the field.
articles by Eduardo B O I T E U X U C H Ô A Cavalcanti
slowly progressive atrophy and weakness in the right lower
extremity. She also complained of mild pain and paresthesia
over the dorsum of the right foot. The electrophysiological
study revealed chronic axonal damage in the right sciatic
nerve. The magnetic resonance imaging of the right thigh and
lumbosacral plexus disclosed a right sciatic nerve fusiform
mass and enlarged lumbosacral roots. The patient underwent
a right sural nerve biopsy and the pathological investigation
demonstrated onion bulb-shaped whorls consistent with the
appearance of intraneural perineurioma, a focal hypertrophic
peripheral nerve tumor, WHO grade I. Rare cases may be due
to loss of ARSA at 22q13. According to the literature, these
tumours are static or slowly progressive, remain confined to
their original distribution and have low morbidity. Because of
the intensive evaluation needed for diagnosis, this condition
is probably under-recognized.
Conference Presentations by Eduardo B O I T E U X U C H Ô A Cavalcanti
Methods: Clinical data were collected from the EMR of a 67-year-old female with hereditary systemic amyloidosis and a positive familiar history for this condition. A review of literature was conducted to identify additional reports and compare data to our results. Results: We describe a 67 year-old female with slowly progressive gastrointestinal symptoms and peripheral neuropathy, who had onset of symptoms at 59 years and with a positive familiar history for amy- loidosis characterized by autosomal dominant pattern of inheritance. The neurophysiological study demonstrated an axonal motor and sen- sory neuropathy. Serum biochemical measurements were normal, including creatinine and β2-microglobulin levels. PET-CT did not show hypermetabolic lesions and tilt-test revealed signs of dysautonomia and sustained sinus tachycardia. Amyloid deposits were detected by Congo red staining of sections of formalin-fixed, wax-embedded biopsy specimens from abdominal fat pad and minor salivary gland. No pathogenic variant was identified in TTR gene sequencing. Whole exome sequencing revealed an heterozygous pathogenic variant c.286 G > A p.(Asp96Asn) in B2M gene. Conclusions: The clinical course of the disease in our patient is in accordance with previously described cases. This report highlights the diagnostic challenge of B2M amyloidosis and the importance of inves- tigating other forms of hereditary amyloidosis in addition to that related to TTR gene.
clinicamente pela tríade clássica de ataxia, oftalmoplegia e
confusão mental e se não tratada prontamente, cursa com
mortalidade e morbidade consideráveis, inclusive com seqüelas
importantes. Este estudo visa mostrar a importância do uso
da Ressonância Magnética (RM) no diagnótico precoce de
deficiência de tiamina (béri-béri). MÉTODOS: São apresentados
os dados clínicos, laboratoriais e de Imagem em dois pacientes
com encefalopatia de Wernicke, com ênfase nos aspectos
da Ressonância Magnética. RESULTADOS: Os achados
neurorradiológicos são característicos, podendo acometer os
corpos mamilares, o tálamo periventricular, a substância cinzenta
periaquedutal e o hipotálamo. Nas fases agudas pode haver
hemorragia, necrose, edema e realce das estruturas envolvidas,
enquanto nas fases crônicas existe atrofia, principalmente
dos corpos mamilares, o que pode ser o único achado. Há
acometimento talâmico dorso-medial, com ou sem realce póscontraste. CONCLUSÕES: Os achados neurorradiológicos são
típicos, por isso diante da suspeita de encefalopatia de Wernicke,
deve-se solicitar RM, que é considerada método padrão-ouro
para elucidação diagnóstica e detecção precoce desta doença.
terapêuticos (medicamentosos ou não) para tratamento da
dor neuropática na lepra. MÉTODOS: Consideraremos como
público alvo pacientes com lepra apresentando dor neuropática,
virgens de tratamento, ou em curso do tratamento convencional
(poliquimioterapia), ou aqueles no período pós-tratamento,
sendo um total de 60 pacientes sem neurite ativa, tratados
com amitriptilina, ou gabapentina (por divisão aleatória);
e 60 pacientes com neurite ativa, que receberão terapia
imunossupressora (prednisona, metilpredinisolona e azatioprina).
Pacientes serão avaliados quanto ao comprometimento
sensitivo com instrumentos tais como TSA, a ENMG e CHEPS.
Adesão medicamentosa será avaliada por contagem da cartela
fornecida com os medicamentos nas consultas; e pela presença
dos pacientes nas datas pré-estabelecidas para as consultas.
RESULTADOS: O projeto ainda se encontra em andamento,
porém se esperam três desfechos: manutenção da dor, apesar
do medicamento empregado; não tolerância ou não adesão ao
tratamento instituído; melhora da dor. CONCLUSÕES: Lepra é
uma doença que afeta populações de países não desenvolvidos,
preferencialmente as classes sociais mais baixas e, com isso,
não oferece um retorno lucrativo suficiente para investimentos
em pesquisa e desenvolvimento de novas terapias. O suporte do
CNPq, FINEP e Ministério da Saúde mostra a importância de estudos
voltados para o controle da dor neuropática nesta doença.
slowly progressive atrophy and weakness in the right lower
extremity. She also complained of mild pain and paresthesia
over the dorsum of the right foot. The electrophysiological
study revealed chronic axonal damage in the right sciatic
nerve. The magnetic resonance imaging of the right thigh and
lumbosacral plexus disclosed a right sciatic nerve fusiform
mass and enlarged lumbosacral roots. The patient underwent
a right sural nerve biopsy and the pathological investigation
demonstrated onion bulb-shaped whorls consistent with the
appearance of intraneural perineurioma, a focal hypertrophic
peripheral nerve tumor, WHO grade I. Rare cases may be due
to loss of ARSA at 22q13. According to the literature, these
tumours are static or slowly progressive, remain confined to
their original distribution and have low morbidity. Because of
the intensive evaluation needed for diagnosis, this condition
is probably under-recognized.
Books by Eduardo B O I T E U X U C H Ô A Cavalcanti
young adults is considerable. The etiological investigation of ischemic
stroke in this population is also challenging. Objective: To describe the characteristics of young patients with ischemic stroke admitted to a neurological rehabilitation program in Brazil. Methods: This transversal retrospective study analyzed data from the electronic health records of 134 patients aged 18 to 45 years with ischemic stroke admitted from 2008 to 2012. Results: The average patient age at the time of ictus was 33 years; 56% of the subjects were female, and 29.3% had undetermined etiologies of Stroke, on the basis of both TOAST and SSS TOAST criteria. Further, 48.7% of the subjects had a known vascular risk factor, which was arterial hypertension in most cases. The results of thrombophilia testing were positive in 13.7% of patients, but in only 3.7% of patients, thrombophilia was determined to be the causal mechanism of the stroke. There was a significant association between thrombophilia and patent foramen ovale, but no significant association was found between thrombophilia and arterial dissection. Among the patients with artery dissections, 46% had a history of trauma, which was statistically significant. Conclusions: Etiological diagnosis of stroke in the young is challenging for clinicians. Hence, a more effective classification scheme, better investigative mechanisms, and correct determination of causal associations in ischemic stroke are needed. Thrombophilia screening should be performed in the presence of relevant clinical signs and/or
family history.
heterogeneous disorders characterized by predominantly proximal muscle
weakness. We aimed to characterize epidemiological, clinical and molecular
data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A
multicenter historical cohort study was performed at 13 centers, in which index
cases and their affected relatives’ data from consecutive families with genetic or
pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to
August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-
calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies
were built and progressions according to sex and genotype were estimated. In
370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were
LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related,
each representing around 30% of families. Sarcoglycanopathies were the most
frequent childhood-onset subtype, representing 21% of families. Five percent of
families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype
worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe
progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related
patients with truncating variants had earlier disease onset and more severe
progression to handicap than patients without truncating variants. We have
provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that
This article is protected by copyright. All rights reserved.Winckler et al.
might help on differential diagnosis, better patient care and guiding future
collaborative clinical trials and natural history studies in the field.
slowly progressive atrophy and weakness in the right lower
extremity. She also complained of mild pain and paresthesia
over the dorsum of the right foot. The electrophysiological
study revealed chronic axonal damage in the right sciatic
nerve. The magnetic resonance imaging of the right thigh and
lumbosacral plexus disclosed a right sciatic nerve fusiform
mass and enlarged lumbosacral roots. The patient underwent
a right sural nerve biopsy and the pathological investigation
demonstrated onion bulb-shaped whorls consistent with the
appearance of intraneural perineurioma, a focal hypertrophic
peripheral nerve tumor, WHO grade I. Rare cases may be due
to loss of ARSA at 22q13. According to the literature, these
tumours are static or slowly progressive, remain confined to
their original distribution and have low morbidity. Because of
the intensive evaluation needed for diagnosis, this condition
is probably under-recognized.
Methods: Clinical data were collected from the EMR of a 67-year-old female with hereditary systemic amyloidosis and a positive familiar history for this condition. A review of literature was conducted to identify additional reports and compare data to our results. Results: We describe a 67 year-old female with slowly progressive gastrointestinal symptoms and peripheral neuropathy, who had onset of symptoms at 59 years and with a positive familiar history for amy- loidosis characterized by autosomal dominant pattern of inheritance. The neurophysiological study demonstrated an axonal motor and sen- sory neuropathy. Serum biochemical measurements were normal, including creatinine and β2-microglobulin levels. PET-CT did not show hypermetabolic lesions and tilt-test revealed signs of dysautonomia and sustained sinus tachycardia. Amyloid deposits were detected by Congo red staining of sections of formalin-fixed, wax-embedded biopsy specimens from abdominal fat pad and minor salivary gland. No pathogenic variant was identified in TTR gene sequencing. Whole exome sequencing revealed an heterozygous pathogenic variant c.286 G > A p.(Asp96Asn) in B2M gene. Conclusions: The clinical course of the disease in our patient is in accordance with previously described cases. This report highlights the diagnostic challenge of B2M amyloidosis and the importance of inves- tigating other forms of hereditary amyloidosis in addition to that related to TTR gene.
clinicamente pela tríade clássica de ataxia, oftalmoplegia e
confusão mental e se não tratada prontamente, cursa com
mortalidade e morbidade consideráveis, inclusive com seqüelas
importantes. Este estudo visa mostrar a importância do uso
da Ressonância Magnética (RM) no diagnótico precoce de
deficiência de tiamina (béri-béri). MÉTODOS: São apresentados
os dados clínicos, laboratoriais e de Imagem em dois pacientes
com encefalopatia de Wernicke, com ênfase nos aspectos
da Ressonância Magnética. RESULTADOS: Os achados
neurorradiológicos são característicos, podendo acometer os
corpos mamilares, o tálamo periventricular, a substância cinzenta
periaquedutal e o hipotálamo. Nas fases agudas pode haver
hemorragia, necrose, edema e realce das estruturas envolvidas,
enquanto nas fases crônicas existe atrofia, principalmente
dos corpos mamilares, o que pode ser o único achado. Há
acometimento talâmico dorso-medial, com ou sem realce póscontraste. CONCLUSÕES: Os achados neurorradiológicos são
típicos, por isso diante da suspeita de encefalopatia de Wernicke,
deve-se solicitar RM, que é considerada método padrão-ouro
para elucidação diagnóstica e detecção precoce desta doença.
terapêuticos (medicamentosos ou não) para tratamento da
dor neuropática na lepra. MÉTODOS: Consideraremos como
público alvo pacientes com lepra apresentando dor neuropática,
virgens de tratamento, ou em curso do tratamento convencional
(poliquimioterapia), ou aqueles no período pós-tratamento,
sendo um total de 60 pacientes sem neurite ativa, tratados
com amitriptilina, ou gabapentina (por divisão aleatória);
e 60 pacientes com neurite ativa, que receberão terapia
imunossupressora (prednisona, metilpredinisolona e azatioprina).
Pacientes serão avaliados quanto ao comprometimento
sensitivo com instrumentos tais como TSA, a ENMG e CHEPS.
Adesão medicamentosa será avaliada por contagem da cartela
fornecida com os medicamentos nas consultas; e pela presença
dos pacientes nas datas pré-estabelecidas para as consultas.
RESULTADOS: O projeto ainda se encontra em andamento,
porém se esperam três desfechos: manutenção da dor, apesar
do medicamento empregado; não tolerância ou não adesão ao
tratamento instituído; melhora da dor. CONCLUSÕES: Lepra é
uma doença que afeta populações de países não desenvolvidos,
preferencialmente as classes sociais mais baixas e, com isso,
não oferece um retorno lucrativo suficiente para investimentos
em pesquisa e desenvolvimento de novas terapias. O suporte do
CNPq, FINEP e Ministério da Saúde mostra a importância de estudos
voltados para o controle da dor neuropática nesta doença.
slowly progressive atrophy and weakness in the right lower
extremity. She also complained of mild pain and paresthesia
over the dorsum of the right foot. The electrophysiological
study revealed chronic axonal damage in the right sciatic
nerve. The magnetic resonance imaging of the right thigh and
lumbosacral plexus disclosed a right sciatic nerve fusiform
mass and enlarged lumbosacral roots. The patient underwent
a right sural nerve biopsy and the pathological investigation
demonstrated onion bulb-shaped whorls consistent with the
appearance of intraneural perineurioma, a focal hypertrophic
peripheral nerve tumor, WHO grade I. Rare cases may be due
to loss of ARSA at 22q13. According to the literature, these
tumours are static or slowly progressive, remain confined to
their original distribution and have low morbidity. Because of
the intensive evaluation needed for diagnosis, this condition
is probably under-recognized.