Bibliometría y mapeo de redes de la producción científica internacional de Cuba sobre ataxias (1993-2020) / Bibliometrics and network mapping of Cuban international scientific production on ataxias (1993-2020)

El objetivo del estudio fue caracterizar el potencial investigador cubano en el ámbito de las ataxias y su evolución temporal. Se realizó una búsqueda en la base de datos Web of Science y se obtuvieron todos los documentos publicados entre 1993 y 2020. Se aplicaron indicadores bibliométricos para explorar la producción, dispersión, distribución y crecimiento anual de los documentos (ley de Price, ley de Lotka, índice de transitoriedad y modelo de Bradford). Se calculó el índice de participación y colaboración de países e instituciones y, por cartografía bibliométrica, se exploraron las redes de coocurrencia de los términos más utilizados. La producción científica de Cuba sobre ataxias hereditarias es alta (219 documentos) y se ajusta a un crecimiento lineal (r= 0,7580). El período estudiado concentra el 47,95 por ciento de los registros con un ritmo anual de publicaciones del 6,6 por ciento y tiempo de duplicidad de 10,8 años. El total de citas fue de 3807 (índice medio: 131,27; índice -h: 31). Se concluye que el crecimiento de la literatura científica cubana sobre ataxias fue lineal para el período estudiado, lo que confirma el incumplimiento de la ley de Price de crecimiento de la literatura científica. El estudio también corrobora la importante red de integración y cooperación internacional entre los diferentes autores y la interdisciplinariedad de los trabajos, evidencia del éxito del Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), al planificar una estrategia de colaboración científica con objetivos definidos(AU)

The objective of this study was to characterize the Cuban research potential in the field of ataxias and its temporal evolution. A search was carried out in the Web of Science database and all the documents published from 1993 to 2020 were retrieved. Bibliometric indicators were applied to explore the production, dispersion, distribution and annual growth of the documents (Price's law, Lotka's law, transience index and Bradford model). The participation and collaboration index of countries and institutions was calculated and, through bibliometric cartography, the co-occurrence networks of the most used terms were explored. The Cuban scientific production on hereditary ataxias is high (219 documents) and it adjusts to a linear growth (r = 0.7580). The period studied concentrates 47.95percent of the records with an annual publication rate of 6.6percent and 10.8 years' duplication time. The total number of citations was 3807 (mean index: 131.27; h-index: 31). Growth of the Cuban scientific literature on ataxias was concluded to be linear for the period studied, which confirms the non-compliance with Price's law of growth of scientific literature. The study also corroborates the important network of integration and international cooperation among the different authors and the interdisciplinarity of the papers, marking the success of the Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH), when planning a strategy of scientific collaboration with objectives defined(AU)

Coenzyme Q10 deficiency in patients with hereditary hemochromatosis.

AIM: Hereditary hemochromatosis (HH) is a group of inherited disorders that causes a slow and progressive iron deposition in diverse organs, particularly in the liver. Iron overload induces oxidative stress and tissue damage. Coenzyme Q10 (CoQ10) is a cofactor in the electron-transport chain of the mitochondria, but it is also a potent endogenous antioxidant. CoQ10 interest has recently grown since various studies show that CoQ10 supplementation may provide protective and safe benefits in mitochondrial diseases and oxidative stress disorders. In the present study we sought to determine CoQ10 plasma level in patients recently diagnosed with HH and to correlate it with biochemical, genetic, and histological features of the disease. METHODS: Plasma levels of CoQ10, iron, ferritin, transferrin and vitamins (A, C and E), liver tests (transaminases, alkaline phosphatase and bilirubin), and histology, as well as three HFE gene mutations (H63D, S654C and C282Y), were assessed in thirty-eight patients (32 males, 6 females) newly diagnosed with HH without treatment and in twenty-five age-matched normolipidemic healthy subjects with no HFE gene mutations (22 males, 3 females) and without clinical or biochemical signs of iron overload or liver diseases. RESULTS: Patients with HH showed a significant decrease in CoQ10 levels respect to control subjects (0.31 ±â€¯0.03 µM vs 0.70 ±â€¯0.06 µM, p < 0.001, respectively) independently of the genetic mutation, cirrhosis, transferrin saturation, ferritin level or markers of hepatic dysfunction. Although a decreasing trend in CoQ10 levels was observed in patients with elevated iron levels, no correlation was found between both parameters in patients with HH. Vitamins C and A levels showed no changes in HH patients. Vitamin E was significantly decreased in HH patients (21.1 ±â€¯1.3 µM vs 29.9 ±â€¯2.5 µM, p < 0.001, respectively), but no correlation was observed with CoQ10 levels. CONCLUSION: The decrease in CoQ10 levels found in HH patients suggests that CoQ10 supplementation could be a safe intervention strategy complementary to the traditional therapy to ameliorate oxidative stress and further tissue damage induced by iron overload.

Lamotrigine-Associated Movement Disorder: A Literature Review.

BACKGROUND: Lamotrigine (LMT) is a phenyltriazine derivative that was originally described as an antiepileptic drug. OBJECTIVE: This literature review aims to evaluate the clinical epidemiological profile, pathological mechanisms, and management of lamotrigine-associated movement disorders. METHODS: Relevant reports in six databases were identified and assessed by two reviewers without language restriction. Reports that the individuals only developed tremor or ataxia after LMT use were not included. RESULTS: In total 48 reports of 108 cases from 19 countries were assessed. The movement disorders associated with LMT found were 29 tics, 21 dyskinesias, 14 myoclonus, 13 parkinsonism, 10 dystonia, and 1 stuttering. The not clearly defined cases included 10 akathisia, 4 myoclonus, 4 cerebellar syndromes, 1 hypertonia, 1 dyskinesia, and an unknown number of dystonia cases. The mean reported age was 33.34 years (range: 1.574 years). The male was the predominant sex and the most common LMT indication was epilepsy. The mean LMT-dose at the movement disorder onset was 228 mg. The time from LMT start to the onset of movement disorder was within 6 months in 81%. The time from LMT withdrawal to complete recovery was within 1 month in 83%. The most common management was LMT withdrawal. CONCLUSIONS: In the literature, the majority of the cases did not give a clear picture of the individual, and the times of movement disorder onset and recovery are not described. We believe that before withdrawal LMT, a dose adjustment based on the benefits and adverse events with careful evaluation case-by-case can be done.

[Clinical features of 63 patients with ataxia]. / Características clínicas de 63 pacientes con ataxia.

BACKGROUND: Ataxia can be classified as genetic, sporadic or acquired. AIM: To report the clinical features of a group of patients with ataxia. MATERIAL AND METHODS: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review. RESULTS: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. RESULTS: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. CONCLUSIONS: Considering the heterogeneity of patients with ataxia, we propose a method to approach them.

Características clínicas de 63 pacientes con ataxia / Clinical features of 63 patients with ataxia

Background: Ataxia can be classified as genetic, sporadic or acquired. Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review. Results: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. Results: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. Conclusions: Considering the heterogeneity of patients with ataxia, we propose a method to approach them.

Outbreak of ataxia in pigs associated with consumption of piquillín (Condalia microphylla).

The plant piquillín (Condalia microphylla) grows in arid regions of Argentina and is the cause of mal del piquillín in cattle. The salient histologic features of this leukomyelopathy are vacuolation of white matter and axonal degeneration in the spinal cord. The histologic lesions can be experimentally reproduced in cattle and pigs by feeding milled bark of the plant, but naturally occurring piquillín toxicosis has not been reported previously in pigs. The authors report an outbreak of progressive ataxia on an Argentine hog farm, where partially consumed piquillín plants were found in the pens of affected pigs. Histologic lesions included vacuolation of white matter, edema, and mild axonal degeneration in lumbosacral segments of the cord. The diagnosis of mal del piquillín was based on the history, clinical signs, histologic changes, and elimination of other potential causes of leukomyelopathy. No new outbreaks developed after elimination of piquillín from the hog lots. Results of this investigation indicate that C microphylla toxicosis can affect pigs under natural conditions and should be included in the differential diagnosis for porcine ataxia and leukomyelopathy in regions where the plant grows.

Las ataxias hereditarias en Cuba: aspectos históricos, epidemiológicos, clínicos, electrofisiológicos y de neurología cuantitativa / Hereditary ataxias in Cuba: historical epidemiological, clinical

This review has been designed to describe the main clinical, epidemiological, electrophysiological,molecular and quantitative neurological characteristics in SCA2. Development. The prevalence rate of patients with ataxia inHolguin province is 43 per 100,000 inhabitants. The prevalence of family members at risk of having this disorder is 159,33 per100 thousand in this province. The main neurophysiological abnormality observed was reduction in the amplitudes of sensorypotentials. These alterations are the expression of a predominantly axonal peripheral lesion with signs of myelin damage.Techniques of quantitative neurology were developed for evaluation of the main disorders of coordination such as dissymmetryand diadochokinesia. In Cuba 125 families have hereditary ataxia, 772 patients and 8 to 10,000 family members are at risk ofdeveloping this condition. Seventy percent of the patients with ataxia are concentrated in Holguin province. The most severelyaffected towns are Báguanos (a rate of 129,20 per 100,000 inhabitants), Holguin (71,85 per 100,000) and Cacocúm (69,83 per100,000). These are the highest rates in the world. Conclusions. The commonest molecular form in Cuba is the SCA2, observedin 120 families. Clinically it is characterized by a cerebellar syndrome associated with disorders of eye movements...(AU)

Manifestaciones disautonómicas en pacientes con ataxiaespinocerebelosa tipo 2 cubana / Dysautomic Features in Patients with cuban type 2 Spinocerebellar ataxia

Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of thesympathetic or parasympathetic nervous systems in either the peripheral or central parts. To identify the clinicalfeatures related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. Patients and methods.We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walkand totally or partly dependent on other people for essential everyday activities). The patients and their families were closelyquestioned, and full clinical examination included a test for orthostasia. Results. All patients had some signs of peripheraldysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynauds phenomenon, etc.), 95.2 percent...(AU)

Las manifestaciones disautonómicas son todos aquellos síntomas o signos clínicos que se derivan de un funcionamiento anómalo del sistema nervioso simpático o parasimpático,tanto en sus porciones periféricas como centrales. Identificar las manifestaciones clínicas relacionadas con disautono-míasen el paciente de ataxia espinocerebelosa tipo 2 con discapacidad funcional severa. Se realizó un estudio deserie de casos en 21 enfermos con discapacidad severa (confinadosa la cama o silla de ruedas, que no pueden deambular y dependentotal o parcialmente de otra persona para realizar las actividades vitales). Se efectuó un minucioso interrogatorio clínico a enfermos y familiares, así como un examen físico exhaustivo que incluyó la prueba de ortostatismo. El 100 por ciento de la muestra presentaron alguna manifestación disautonómica periférica: trastornos vasomotores en el 100 por ciento (ortostatismo, frialdad y palidez distal,fenómeno de Raynaud...(AU)

[Clinical identification of hereditary ataxias. A study of 38 cases in Colombia]. / Identificación clínica de las ataxias hereditarias: estudio de 38 casos en Colombia.

INTRODUCTION: Hereditary ataxias are a complex group of degeneratives diseases of the CNS. Material and methods. We studied 38 patients who were diagnosed inherited ataxia according to recent classification and radiologic criteria. We proposed flow sheet in order to reduce the cost of the studies. RESULTS: The most frequent findings we encountered were the congenital ataxias and the late onset ataxia forms, olivopontocerebellar ataxias (OPCA) and the late cortical cerebellar ataxias (CCA), following were the Friedreich ataxias, the intermittent ataxias, and cerebellar ataxias with myoclonus. We found finally two multisystemic atrophies. We didn't find dominant inheritance in the late onset ataxias, some of these were recessive forms and the others could be the novo mutations or idiopathic cerebellar ataxias of adult onset. CONCLUSION: It would be appropriate to enlarge the studies in the metabolic and treatable forms and try to define the forms that have a known genetic mutation.