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1.
Acta Academiae Medicinae Sinicae ; (6): 161-166, 2023.
Article in Chinese | WPRIM | ID: wpr-970462

ABSTRACT

Systemic lupus erythematosus combined with chorea is relatively rare in China,and there are no unified diagnostic criteria or specific ancillary tests.Therefore,it is confirmed by exclusionary clinical diagnosis.To improve the understanding of this disease among rheumatologists,we report the clinical data of a patient with systemic lupus erythematosus combined with chorea admitted to the Department of Rheumatology and Immunology in the First Affiliated Hospital of Jinan University in January 2022.Furthermore,we review the relevant literature in the past 10 years and summarize the clinical features of these cases.


Subject(s)
Humans , Chorea/diagnosis , Lupus Erythematosus, Systemic/complications , China , Hospitalization , Hospitals
2.
Journal of Central South University(Medical Sciences) ; (12): 396-400, 2022.
Article in English | WPRIM | ID: wpr-928983

ABSTRACT

Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.


Subject(s)
Humans , Male , Athetosis/genetics , Chorea , Congenital Hypothyroidism/genetics , Cough , Respiratory Distress Syndrome, Newborn , Thyroid Nuclear Factor 1/genetics
3.
Rev. Assoc. Méd. Rio Gd. do Sul ; 65(4): 01022105, OUT-DEZ 2021.
Article in Portuguese | LILACS | ID: biblio-1392389

ABSTRACT

O diabetes mellitus é uma doença endócrino-metabólica de grande prevalência mundial que pode culminar, quando descompensada, com diversas complicações, entre elas alterações neurológicas. Este relato de caso tem como objetivo descrever a presença de balismo e coreia em membros superiores bilateralmente propiciados pelo estado hiperglicêmico não cetótico em paciente com diabetes mellitus sem tratamento. Devido à agilidade em procurar por atendimento médico assim que se iniciaram os sintomas, e o correto manejo intra-hospitalar, nenhuma alteração foi visualizada em exame de imagem. No entanto, foram descartadas quaisquer outras causas que justificassem o quadro. Após o controle glicêmico adequado, houve melhora clínica progressiva e desaparecimento de movimentos involuntários.


Diabetes mellitus is an endocrine metabolic disease of great worldwide prevalence that can culminate, when decompensated, with several complications, including neurological changes. This case report aims to describe the presence of ballism and chorea in the upper limbs bilaterally caused by the non-ketotic hyperglycemic state in a patient with untreated diabetes mellitus. Due to the agility in seeking medical care as soon as the symptoms started, and the correct intra-hospital management, no changes were seen in the imaging scan. However, any other causes that justified the situation were ruled out. After adequate glycemic control, there was progressive clinical improvement and disappearance of involuntary movements.


Subject(s)
Humans , Aged , Aged, 80 and over , Chorea , Dyskinesias , Diabetes Mellitus
5.
Arq. neuropsiquiatr ; 79(3): 233-237, Mar. 2021. tab, graf
Article in English | LILACS | ID: biblio-1285348

ABSTRACT

ABSTRACT Background: Chorea is a movement disorder characterized by random, brief and migratory involuntary muscle contractions. It is defined as acute when present within hours to days. Three main causes for this scenario have emerged as most likely: vascular, toxic-metabolic and inflammatory. Objectives: To identify the prevalence of the main etiologies and major clinical findings of acute chorea in the emergency room of a tertiary-level referral center; and to suggest an approach for guiding the diagnostic workup and clinical management. Methods: We retrospectively reviewed the clinical aspects and neuroimaging data of 10 patients presenting with acute chorea at the neurological emergency room of our hospital from 2015 to 2019. Results: Stroke was the most common etiology (50% of the cases). All of them were ischemic. It was noteworthy that only one case demonstrated the classical ischemic topographic lesion at the contralateral subthalamic nuclei. Regarding nonvascular etiologies, nonketotic hyperglycemia was the major cause, followed by drug-related chorea. One patient showed inflammatory etiology, which was probably Sydenham chorea reactivation. Conclusion: Acute chorea is an uncommon and challenging problem at the emergency room, often associated with potentially treatable causes. We suggest that use of the acronym DANCE (Diagnosis of chorea, Acute stroke protocol, Normal glucose levels, Check neuroimaging, Exposure to drugs) could form a potential initial approach in the evaluation, in order to emphasize causes that require prompt proper management (e.g. thrombolysis).


RESUMO Introdução: Coreia é um distúrbio do movimento caracterizado por contrações musculares caóticas, migratórias, aleatórias e involuntárias. Usualmente, define-se como coreia aguda quando presente dentro de horas a dias. Neste cenário, três causas emergem como as mais comuns: vascular, tóxico-metabólica e inflamatória. Objetivos: O objetivo deste estudo foi identificar a prevalência das principais etiologias e os principais achados clínicos de coreia aguda na sala de emergência de um centro de referência terciário, a fim de sugerir uma abordagem para orientar a investigação diagnóstica e o manejo na emergência. Métodos: Revisamos retrospectivamente os dados clínicos e de neuroimagem, de 2015 a 2019, de 10 pacientes com coreia aguda na sala de emergência neurológica de um hospital terciário. Resultados: A etiologia mais comum foi o acidente vascular cerebral (AVC) (50% dos casos). Todos os AVCs foram isquêmicos e apenas um se apresentou como isquemia clássica do núcleo subtalâmico contralateral. Em relação às causas não vasculares, a hiperglicemia não cetótica demonstrou ser a principal, seguida pela coreia relacionada a medicamentos. Um paciente apresentou etiologia inflamatória, por provável reativação da coreia de Sydenham. Conclusão: A coreia aguda é um problema incomum e desafiador na sala de emergência, muitas vezes associado a causas potencialmente tratáveis. Nós sugerimos o acrônimo DANCE (Diagnosis of chorea, Acute stroke protocol, Normal glucose levels, Check neuroimaging, Exposure to drugs) para auxiliar na abordagem como primeiro passo na sala de emergência, a fim de enfatizar causas que requerem tratamento imediato e adequado (por exemplo, trombólise).


Subject(s)
Humans , Chorea/diagnosis , Chorea/etiology , Movement Disorders , Brazil , Retrospective Studies , Emergency Service, Hospital
6.
Article in Spanish | LILACS | ID: biblio-1392352

ABSTRACT

Las discinesias paroxísticas son un grupo de entidades consistentes en paroxismos de diversos movimientos anormales de corta duración asociados o no a factores precipitantes. Suele afectar a sujetos jóvenes y la prevalencia es desconocida. La fisiopatología es incierta; se han identificado ciertas mutaciones que expliquen su origen. Clínicamente se pueden manifestar como ataques paroxísticos de movimientos de tipo coreoatetósico, distónicos o balísticos de corta duración y con preservación de la conciencia. Los estudios electrofisiológicos y de imagen suelen ser normales. Este grupo de trastornos del movimiento hacen parte del diagnóstico diferencial de las crisis epilépticas. El pronóstico suele ser bueno y el tratamiento es sintomático con anticonvulsivantes. Se presentarán tres casos de dos tipos de trastornos paroxísticos del movimiento y revisión de la literatura.


Paroxysmal dyskinesias are a group of entities consisting of paroxysms of diverse abnormal movements of short duration, associated or not with precipitating factors. It usually affects young subjects and its prevalence is unknown. The pathophysiology is uncertain; some mutations have been identified that explain their origin. Clinically, they can manifest as paroxysmal attacks of choreoathetosis, dystonic or ballistic movements of short duration and with preservation of consciousness. Electrophysiological and imaging studies are usually normal. This group of movement disorders are part of the differential diagnosis of epileptic seizures. Prognosis is usually good and the treatment is symptomatic with anticonvulsants. Three cases of two types of paroxysmal movement disorders and a review of the current literature are presented.


Subject(s)
Humans , Male , Adolescent , Young Adult , Chorea/diagnosis , Chorea/drug therapy , Carbamazepine/therapeutic use , Electroencephalography/methods , Anticonvulsants/therapeutic use
7.
Philippine Journal of Internal Medicine ; : 6-10, 2020.
Article in Tagalog | WPRIM | ID: wpr-886664

ABSTRACT

@#INTRODUCTION: Nonketotic hyperglycemia among type 2 diabetic patients have recently been documented to cause the rare movement disorder called Hemichorea-hemiballism syndrome which is a hyperkinetic movement disorder presenting as a continuous, non-patterned, involuntary movements caused by a basal ganglia dysfunction. METHODS: A 76-year-old male with a known history of hypertension and no history of stroke and diabetes presented with a 10-day history of increasingly persistent involuntary movements of the right extremities. On admission, the patient was conscious with stable vital signs and unremarkable neurologic findings except for the involuntary flailing movements of the right extremities. Diagnostic testing revealed first documentation of hyperglycemia with brain MRI changes on T1 hyperintensity signals on the basal ganglia and T2/FLAIR weighted imaging showing mixed hypointense and hyperintense signals which is a classical MRI finding in patients with HC-HB syndrome caused by nonketotic hyperglycemia. The patient was treated for diabetes and was maintained on anti-dopaminergic medications for the uncontrollable involuntary movements. After five months, resolution of the hemiballism-hemichorea syndrome was noted after appropriate treatment. CONCLUSION: This case report highlights hemichoreahemiballism syndrome in a newly diagnosed type 2 diabetic patient who had normal glucose levels at presentation. The prompt recognition and correction of uncontrolled newly diagnosed diabetes and administration of anti-dopamine agents lead to a rapid improvement of symptoms, less neurologic sequelae and an overall favorable prognosis.


Subject(s)
Chorea , Dyskinesias , Hyperglycemia , Basal Ganglia Diseases , Diabetes Mellitus, Type 2 , Basal Ganglia
8.
Medicina (Ribeiräo Preto) ; 52(2)abr.-jun., 2019.
Article in Portuguese | LILACS | ID: biblio-1025290

ABSTRACT

Modelo do estudo: Relato de caso. Importância do problema e comentários: A discinesia paroxística não cinesiogênica é um tipo de discinesia paroxística. É caracterizada por movimentos involuntários unilaterais ou bilaterais, do tipo coreico, distônico, balístico ou misto. É uma desordem rara e o diagnóstico precoce é crucial para seu tratamento e melhoria na qualidade de vida do indivíduo. O presente estudo relata um caso de Discinesia Paroxística Não Cinesiogênica e seus achados clínicos, além de apresentar breve revisão da literatura (AU)


Study type: Case report. Relevance and comments: Paroxysmal non-kinesigenic dyskinesia is a type of paroxysmal dyskinesia. It is characterized by involuntary unilateral or bilateral movements, of the choreic, dystonic, ballistic or mixed type. It is a rare disorder and the early diagnosis is crucial for the treatment and improvement of the individual's quality of life. The present report illustrates a case of paroxysmal non-kinesigenic dyskinesia and clinical findings, as well as a brief review of the literature (AU)


Subject(s)
Humans , Male , Child, Preschool , Caffeine , Clinical Diagnosis , Chorea , Dyskinesias , Movement Disorders , Anticonvulsants
9.
Geriatr., Gerontol. Aging (Online) ; 13(2): 118-120, abr-jun.2019. ilus
Article in Portuguese | LILACS | ID: biblio-1096825

ABSTRACT

O diabetes e suas complicações constituem as principais causas de mortalidade precoce na maioria dos países. O envelhecimento da população e a crescente prevalência da obesidade e do sedentarismo, além dos processos de urbanização, são considerados os principais fatores responsáveis pelo aumento da incidência e da prevalência do diabetes mellitus (DM) em todo o mundo. Este relato de caso objetiva descrever a presença de distúrbio do movimento em idoso por conta do estado hiperosmolar não cetótico. A combinação de hemicoreia-hemibalismo, hiperglicemia não cetótica e envolvimento dos gânglios da base em exames de imagem é considerada uma síndrome única. Os distúrbios do movimento em estado hiperosmolar não cetótico apresentam resposta terapêutica satisfatória com o uso de neurolépticos e controle glicêmico adequado. A escassez de trabalhos publicados proporciona subdiagnósticos clínico e laboratorial, interferindo no prognóstico e no acompanhamento dos pacientes.


Diabetes mellitus (DM) and its complications constitute the leading causes of early mortality in most countries. Population aging and the growing prevalence of obesity and sedentary lifestyles, in addition to spreading urbanization, are considered the main drivers of the increasing incidence and prevalence of DM worldwide. This case report describes the acute onset of movement disorder in an older woman secondary to hyperosmolar hyperglycemic state (HHS). The combination of hemichorea­hemiballismus, HHS, and evidence of basal ganglia involvement on neuroimaging is considered a unique syndrome. Movement disorders secondary to HHS respond satisfactorily to administration of neuroleptic agents and proper glycemic control. The lack of published studies on this pathologic entity may lead to clinical and laboratory underdiagnosis, with negative impacts on patient prognosis and follow-up.


Subject(s)
Humans , Female , Aged , Chorea/drug therapy , Chorea/diagnostic imaging , Hyperglycinemia, Nonketotic/complications , Dyskinesias/drug therapy , Dyskinesias/diagnostic imaging , Diabetes Complications , Psychotropic Drugs/therapeutic use , Diabetes Mellitus/physiopathology , Hypoglycemic Agents , Movement Disorders/diagnosis
11.
Ludovica pediátr ; 22(2): 7-11, 2019.
Article in Spanish | BINACIS, LILACS | ID: biblio-1021956

ABSTRACT

La Corea de Sydenham (CS), manifestación mayor, tardía, frecuentemente única de la Fiebre Reumática (FR) y marcador de carditis, continúa afectando a nuestra población pediátrica pese a contar con los medios suficientes para evitarla. Presentamos tres casos de CS como manifestación de FR, con la presencia de carditis, atendidos en una sala de internación de un hospital público pediátrico en el lapso de los años 2014-2018. Es nuestra intención advertir a la comunidad médica sobre la importancia del tratamiento oportuno y completo de las faringitis estreptocócicas (grupos A, C y G) a fin de evitar la FR


Sydenham Korea (CS), a major, late, frequently unique manifestation of Rheumatic Fever (FR) and a carditis marker, continues to affect our pediatric population despite having sufficient means to avoid it. We present three cases of CS as manifestation of RF, with the presence of carditis, treated in an internment room of a pediatric public hospital during the years 2014-2018. It is our intention to warn the medical community about the importance of the timely and complete treatment of strep throat (groups A, C and G) in order to avoid RF


Subject(s)
Humans , Rheumatic Fever , Child , Chorea , Pediatrics
12.
Med. interna (Caracas) ; 35(1): 42-45, 2019. ilus
Article in Spanish | LILACS, LIVECS | ID: biblio-1005805

ABSTRACT

Paciente masculino, hipertenso con inicio súbito de trastornos de movimientos hipercineticos, involuntarios, continuos e irregulares, de la cabeza y hemicuerpo izquierdo. Cursó con afectación de diversos segmentos corporales, principalmente la porción distal de las extremidades, que disminuyen significativamente durante el sueño y se exacerban con emociones, stress o alta concentración. Este trastorno puede tener múltiples causas: genéticas, degenerativas, cerebrovasculares, metabólicas, endocrinas, tóxicas y medicamentosas; en este caso no hay historia de consumo de tóxicos o medicamentos, ni tampoco, datos de causas metabólicas como hiper o hipoglicemia, hipercalcemia significativa o hipernatremia o hiponatremia, entre otras. Se descartó la etiología degenerativa por el curso agudo de la enfermedad. Las imágenes tomográficas fueron compatibles con hemorragia mesencefálica, lo cual motiva esta presentación por lo infrecuente de los trastornos del movimiento involuntario tras un ictus, aunque está descrita en la bibliografía(AU)


We describe a male patient, with hypertension, who consulted for sudden onset of continuous hemichoreic movements of the head and left side of the body. These movements diminished during the sleep and exacerbated with emotions, stress or alertness. Usually this clinical presentation can be due to genetic, degenerative, cerebrovascular events, metabolic causes, medications, toxic substances and several electrolytic disturbances. None of the later were found in this patient, and degenerative origin was not an option due to the sudden onset of his symptoms. The brain cat-scan showed a mesencephalic hemorrhage, which is infrequent with this clinical presentation(AU)


Subject(s)
Humans , Male , Mesencephalon/pathology , Mesencephalon/diagnostic imaging , Chorea/etiology , Cerebral Hemorrhage , Dyskinesias , Hypertension
13.
Chinese Journal of Medical Genetics ; (6): 1171-1174, 2019.
Article in Chinese | WPRIM | ID: wpr-781324

ABSTRACT

OBJECTIVE@#To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.@*METHODS@#Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.@*RESULTS@#All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.@*CONCLUSION@#The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.


Subject(s)
Female , Humans , Pregnancy , Abortion, Spontaneous , Genetics , Chorea , Genetics , Chromosome Aberrations , DNA Copy Number Variations , Microsatellite Repeats , Whole Genome Sequencing
14.
Journal of the Korean Neurological Association ; : 81-83, 2019.
Article in Korean | WPRIM | ID: wpr-766739

ABSTRACT

No abstract available.


Subject(s)
Chorea , Paraneoplastic Syndromes , Small Cell Lung Carcinoma
15.
Journal of Movement Disorders ; : 47-51, 2019.
Article in English | WPRIM | ID: wpr-765836

ABSTRACT

Deep brain stimulation (DBS) of the zona incerta has shown promising results in the reduction of medically refractory movement disorders. However, evidence supporting its efficacy in movement disorders secondary to hemorrhagic stroke or hemichoreoathetosis is limited. We describe a 48-year-old man who developed progressive hemichoreoathetosis with an arrhythmic, proximal tremor in his right arm following a thalamic hemorrhagic stroke. Pharmacological treatment was carried out with no change in the Abnormal Involuntary Movement Scale (AIMS) score after 4 weeks (14). After six sessions of botulinum toxin treatment, a subtle improvement in the AIMS score (13) was registered, but no clinical improvement was noted. The arrhythmic proximal movements were significantly improved after DBS of the zona incerta with a major decrease in the patient’s AIMS score (8). The response to DBS occurring after the failure of pharmacological and botulinum toxin treatments suggests that zona incerta DBS may be an alternative for postthalamic hemorrhage movement disorders.


Subject(s)
Humans , Middle Aged , Abnormal Involuntary Movement Scale , Arm , Botulinum Toxins , Chorea , Deep Brain Stimulation , Hemorrhage , Herpes Zoster , Movement Disorders , Stroke , Tremor , Zona Incerta
16.
Acta pediátr. hondu ; 9(1): 889-893, abr.-sept. 2018. tab
Article in Spanish | LILACS | ID: biblio-1024846

ABSTRACT

Los trastornos neuropsiquiátricos autoinmunes pediátricos asociados a estreptococo (PANDAS) fueron creados para describir un subgrupo teórico de casos de trastornos obsesivo compulsivos (TOC) y / o tics en los que el inicio o la exacerbación de los síntomas es desencadenado por infección del estreptococo hemolítico del grupo A (SBHGA) ; Si bien aún no hay datos de incidencia se estima que el trastorno afecta aproximadamente al 1% de niños menores de 12 años, porque es menos probable que tengan anticuerpos contra el estreptococo y probablemente esté infradiagnosticado. La existencia de este trastorno ha generado considerables avances clínicos y científicos, así como controversia. Fisiopatológicamente, PANDAS se propone ser un trastorno autoinmune postestreptocócico similar a corea de Sydenham, hipotetizandose mas específicamente que los tics y la sintomatología obsesivo compulsiva son el resultado de la activación del sistema inmune adaptativo por el estreptococo del grupo A. Se presenta el caso de un paciente masculino de 6 años, con cuadro de tres semanas de evolución de movimientos involuntarios en cabeza y miembros superiores, así como cambios de conducta, cuyo antecedente de importancia fue una infección respiratoria y en piel varias semanas previo al inicio de los síntomas..(AU)


Subject(s)
Humans , Male , Child , Streptococcal Infections/complications , Neuropsychiatry , Nervous System Diseases , Risk Factors , Chorea
17.
Journal of Clinical Neurology ; : 492-497, 2018.
Article in English | WPRIM | ID: wpr-717425

ABSTRACT

BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced PRRT2, SLC2A1, and MR-1 in these patients and reviewed their medical records. RESULTS: Forty patients were categorized as PKD, 14 as PNKD, and 1 as PED. Thirty-eight (69.1%) patients were male, and their age at onset was 8.80±4.53 years (mean±SD). Dystonia was the most common symptom (38 patients, 69.1%). Pathogenic variants were identified in 20 patients (36.4%): 18 with PRRT2 and 2 with SLC2A1. All of the patients with PRRT2 mutations presented with PKD alone. The 2 patients carrying SLC2A1 mutations presented as PNKD and PED, and one of them was treated effectively with a ketogenic diet. Six mutations in PRRT2 (including 2 novel variants) were identified in 9 of the 13 tested families (69.2%) and in 8 patients of the 25 tested sporadic cases (32.0%). There were no significant differences in clinical features or drug response between the PRRT2-positive and PRRT2-negative PKD groups. CONCLUSIONS: This study has summarized the clinical and genetic heterogeneity of paroxysmal dyskinesia in children. We suggest that pediatric paroxysmal dyskinesia should not be diagnosed using clinical features alone, but by combining them with broader genetic testing.


Subject(s)
Child , Humans , Male , Age of Onset , Chorea , Dyskinesias , Dystonia , Genetic Heterogeneity , Genetic Testing , Genotype , Diet, Ketogenic , Medical Records , Movement Disorders , Phenotype , Population Characteristics
18.
Braz. j. med. biol. res ; 51(3): e6299, 2018. graf
Article in English | LILACS | ID: biblio-889050

ABSTRACT

Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers' understandings of the current knowledge, research trends, and research gaps regarding this disorder. We performed literature searches of articles that were published up to September 2016 in the "ISI Web of Science™" (http://apps.webofknowledge.com/). The keyword used was "Huntington disease". Of the initial 14,036 articles that were obtained, 7732 were eligible for inclusion in the study according to their relevance. Data were classified according to language, country of publication, year, and area of concentration. The country leader regarding the number of studies published on HD is the United States, accounting for nearly 30% of all publications, followed by England and Germany, who have published 10 and 7% of all publications, respectively. Regarding the language in which the articles were written, 98% of publications were in English. The first publication to be found on HD was published in 1974. A surge of publications on HD can be seen from 1996 onward. In relation to the various knowledge areas that emerged, most publications were in the fields of neuroscience and neurology, likely because HD is a neurodegenerative disorder. Publications written in areas such as psychiatry, genetics, and molecular biology also predominated.


Subject(s)
Humans , Biomedical Research/statistics & numerical data , Huntington Disease/genetics , Brazil , Chorea/genetics , Huntington Disease/diagnosis , Huntington Disease/therapy , Internationality , Language , Mediator Complex/genetics
19.
Medicina (Bogotá) ; 40(1(120)): 148-148, Ene-Mar, 2018.
Article in Spanish | LILACS | ID: biblio-910258

ABSTRACT

Introducción y objetivo: La corea es uno de los subtipos de compromiso neurológico ob-servados al debut y durante el curso del lupus eritematoso sistémico juvenil (LESJ). Origina dificultades de diagnóstico diferencial y puede provocar morbilidad significativa. El objetivo del estudio es describir la prevalencia y curso de corea en una cohorte de pacientes con LESJ. Métodos: Estudio descriptivo y retrospectivo. Se analizaron las características clínicas y se-rológicas de una cohorte de pacientes con LESJ que desarrollaron corea al debut y durante el tiempo de seguimiento.


Subject(s)
Lupus Erythematosus, Systemic , Antiphospholipid Syndrome , Chorea
20.
Buenos Aires; Médica Panamericana; 2018. 145 p. ilus.
Monography in Spanish | LILACS | ID: biblio-883334

ABSTRACT

Las afecciones neurológicas son uno de los motivos de consulta más frecuentes en la práctica pediátrica ambulatoria y ocupan un alto índice de las camas en la internación. El papel del pediatra en este contexto es muy complejo, ya que es quien recibe a un paciente en la emergencia o en el consultorio y debe estar atento a si un determinado síntoma o signo neurológico puede ser transitorio o el indicio de una enfermedad grave. Así, son fundamentales tanto el conocimiento de las distintas entidades neurológicas y de sus aspectos epidemiológicos y patogénicos como también el examen semiológico y los primeros estudios por realizar para la orientación diagnóstica, el tratamiento inicial, las indicaciones de derivación, la prevención de riesgos y el asesoramiento a los padres. Este nuevo volumen aborda esta temática especial con énfasis en el trabajo interdisciplinario y entre sus características se destacan: El estudio de importantes temas clínicos, como las convulsiones febriles, que se presentan en el 2% al 5% de los niños; la epilepsia infantil, con una prevalencia del 1%; la cefalea, cuya incidencia ha aumentado en los últimos veinte años y es hoy el motivo de consulta más frecuente en los servicios de neurología; las crisis paroxísticas no epilépticas, que aparecen entre el 5% y el 20% de la población infantil; el desafío diagnóstico del lactante hipotónico; las encefalopatías agudas, y los trastornos de la marcha y del movimiento. La inclusión, en todos los capítulos, de casos clínicos con su evolución y desenlace, textos destacados con los principales conceptos, puntos claves para recordar, además de material complementario, como bibliografía adicional, videos y enlaces a sitios web de interés. Una obra sólida y práctica, que transmite las experiencias de los profesionales de una institución del prestigio internacional del Hospital de Pediatría Prof. Dr. Juan P. Garrahan ­a treinta años de su creación- dedicada a todos los pediatras, donde quiera que trabajen al servicio de la salud de los niños.


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Argentina , Seizures , Spasms, Infantile , Brain Diseases , Muscular Atrophy, Spinal , Chorea , Syncope, Vasovagal , Seizures, Febrile , Dyskinesias , Tics , Gait Disorders, Neurologic , Dystonia , Epilepsy , Headache Disorders, Primary , Headache Disorders, Secondary , Movement Disorders , Muscle Hypotonia
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