Apert and Pfeiffer type 2 syndromes are low-prevalence genetic anomalies produced by a mutation in genes that codify the receptors of the fibroblastic growth factor. They are characteristic in presenting coronal craniosynostosis and syndactyly. Clinically, they are differentiated by moderate to severe mental retardation, polydactyly, and poor prognosis, typical of the Pfeiffer-type 2 syndrome; while in Apert’s syndrome mental retardation is mild and occasional, there is no polydactyly and has a better prognosis. It is not easy to differentiate clinically these two syndromes. We report a case of Apert syndrome and a case of Pfeiffer-type 2 syndrome, each with typical clinical characteristics. Furthermore, a review on the physiopathology and the phenotypical characteristics of these two syndromes, is performed.
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Síndromes de Apert y Pfeiffer 2: Una aproximación diagnóstica.
Diagnóstico prenatal enzimático de Enfermedades Lisosomales en Cuba.
In our country the prenatal diagnosis of lysosomal diseases with enzymatic techniques has been conducted since 1988. This paper describes 12 clinical cases of prenatal diagnosis in 11 couples who were known carriers of lysosomal diseases, all with affected and/or deceased children. Mothers underwent amniocentesis between 16-20 weeks of pregnancy, and samples were simultaneously processed with a control of the same gestational age. Amniocytes were cultured during 18 days, after which the enzymatic activities of α-L-iduronidase (for the MPS I case), arylsulphatase B (for MPS VI cases), α-L-fucosidase (for fucosidosis cases), β-galactosidase (for GM-1 gangliosidosis cases), β-glucosidase (for Gaucher cases), hexosaminidase A (for the Tay-Sachs case) and sphyngomyelinase (for the Niemann Pick case) were quantified. All 12 prenatal diagnoses were negative for the corresponding lysosomal disease and all pregnancies ended in a healthy newborn and in children with normal living. We concluded that prenatal enzymatic diagnosis was useful for defining the possible affection of the fetus and contributed to support genetic counseling for lysosomal diseases, although it does not rule out the need for molecular biology in doubtful cases.
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Trombosis Venosa Cerebral en una paciente con Linfoma no Hodgkin en remisión.
Introduction: Cerebral venous thrombosis is an unusual complication, scarcely reported in patients with non-Hodgkin lymphoma with indolent and not too aggressive type.
Case report: We describe the clinical picture of a woman with low degree non-Hodgkin lymphoma with an evolution of one year remission post treatment, who developed a sinus rectus thrombosis without relationship with intracranial extension nor treatment induced hypercoagulability state. The first manifestation was isolated migraine.
Conclusion: In patients with non-Hodgkin lymphoma and isolated migraine is important to perform neuroimaging studies in order to exclude a cerebral venous thrombosis.
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Glioblastoma Multiforme Intraventricular : Neuroimagen en 2 casos.
Not Available.
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El derecho y la medicina: Una estrecha relación de vieja data.
Not Available.
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Caracterización del paciente lesionado medular según deterioro neurológico y discapacidad.
Introduction: Assessment of spinal cord injured patients helps to determine the neurological impairment in a precise and unified way and to estimate in a reliable way, the prognosis of rehabilitation by tracing adequate objectives for the neurorehabilitation treatment.
Objective: To characterize those patients with spinal cord lesion hospitalized at our clinic, starting from the determination of the level and intensity of the spinal cord injury, as well as the level of functional independence.
Material and method: All the patients hospitalized at the International Center of Neurologic Restoration (CIREN) with traumatic spinal cord injury were evaluated from March to June 2008. All international standards were applied for the neurologic classification of the spinal cord injured patient (ASIA-American Spinal Injury Association) and Barthel’s Functional Independence Scale. The groups were classified according to the intensity and level of the lesion.
Results: 25 patients with traumatic spinal cord lesions were evaluated. 21 patients out of 25 were classified as paraplegic and the remaining four as tetraplegic according to the intensity of the lesion, the neurologic level and functional independence.
Conclusions: The patients with post-traumatic spinal cord lesion were characterized in a precise way. Paraplegia predominated as well as lesions in men. There was a relation between the degree of neurological impairment and functional independence.
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Construcción de una tabla de valores referenciales para un laboratorio de neurofisiología.
This is an study performed to develop a normal reference table of values for nerve conduction studies including sensory, motor and late responses (F Wave and H Reflexes) of the median, ulnar, radial, sural and peroneal nerves; same as also its correspondent late responses and the study of the median-flexor carpi radialis and tibial-soleus complexes in a neurophysiology laboratory located in an Andean city about 2600 m above the level of the sea. This consecutive study includes 100 patients referred for evaluation, free of neuropathic pathology same as also without risk factors associated to peripheral nerve disease. The mean age was 49 year old; with the lower and upper limits between 15 and 71 years old. The normal conduction values (and standard deviation) for sensory responses are (in meter by second): median nerve 53.3±2.2, ulnar nerve 55.2±3.6, radial nerve 54.8±4.2, sural nerve 57.5±5, and 53.1±4.5 in the superficial peroneal nerve. The motor conduction normal values are: 57.5±4.6 for the median nerve, 63.7±5.3 for the ulnar nerve, 57.9±4.2 the radial nerve, and 55.7±3.6 for the common peroneal nerve. The latency when we study the late responses showed as normal values (in milliseconds); 23.5±1.3 for the median nerve, 23.9±1.5 for the ulnar nerve, and, 40.0±2 for the peroneal nerve. The H Reflex latency also in milliseconds was 16.3±1.2 for the median-flexor carpi radialis complex; and 28.7±2 for the tibial-soleus complex. The results are very similar compared to the international published data, in relation to the height of the included subjects; the difference is related to this factor and shows normal responses once we eliminated the confound factors depending in the environment (skin temperature as the principal).
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Principales factores multicausales en la epilepsia que inducen al deterioro de funciones cognitivas.
By studying a group of epileptic patients we try to know the low levels of intelligence quotient (IQ) and positive cognitive deterioration index (DI) and its relation to a group of multietiologic factors. Wechsler’s IQ and DI were used in the study with 130 epilepsy diagnosed patients that were divided into two groups: in the first one were those with CI < 89 and > 90, and in the other those that had either DI positive or not. These variables were analyzed according to biological, psychosocial and drug factors. The data was processed with statistigraphs as Fisher, Odds Ratio, and ANOVA. Out of the total of studied patients 52.31% had a CI <89 and 47.69% had CI >90. 52.3% of the patients had no deterioration and 47.7% showed deterioration index. The factors related to patients with CI < 89 were: past history of alcoholism, first seizure < of 15 years, seizures presented for more than 10 years, high frequency of the seizures, partial seizures with secondary generalization and phenytoin treatment.
Factors related to the DI were: alcoholism, high frequency of seizures, partial seizures with secondary generalization, association with chronic psychosis, treatment with phenytoin and a mixture of phenytoin and carbamazepine. Half of the patients had IQ < 89, and more than one fourth of them showed deterioration. It´s considered that although the deterioration, detected by Weschler Adults Intelligence Scale (WAIS), may not be visible, it is important to know its existence to diminish the risk factors.
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Comparison of hemorheology and plasma contents of TXB2, 6-Keto-PGF1 alpha in model rats with three kinds of cerebral ischemia.
Objective: To compare changing features of hemorheological, TXB2 and 6-keto-PGF1 alpha in plasma in three kinds of model rats with cerebral ischemia.
Materials and Methods: 128 adult male Sprague-Dawley rats were randomly divided into four groups: a middle cerebral artery occlusion with intraluminal thread group (MCAO-group), a bilateral common carotid artery ligation group (BCCA-group), a unilateral common carotid artery ligation group (UCCA-group) and a normal control group (NC-group). Blood for hemorheological testing of all rats was taken from abdominal aorta 24h following cerebral ischemia and hemorheological index was determined. Plasma contents of TXB2 and 6-keto-PGF1 alpha were detected by radio-immunity.
Results: The whole blood viscosity value, plasma viscosity value, and hematocrit were higher in MCAO-group among three model groups, followed by BCCA-group and UCCA-group. The deformity index of RBC in MCAO-group was significantly lower than that in normal-group. There were significant differences for plasma contents of TXB2 and 6-keto-PGF1 alpha among the three model groups and the normal group. There were significant differences for plasma level of 6-Keto-PGF1a, TXB2 between MCAO-group and the normal group, but no difference among the three model groups(p>0.05).
Conclusion: MCAO was the greatest in contribute to changes of hemorheology and plasma contents of TXB2, 6-keto-PGF1 alpha among three rat models with cerebral ischemia.
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Neuropsychological evaluation of 246 Portuguese normal subjects with Luria Nebraska Neuropsychological battery, MMSE, Clock Drawing Test, Luria’s Graphic Series & Depression symptomatology questionnaire.
A total of normal 246 adult subjects were evaluated with Luria Nebraska Neuropsychological Battery – LNNB (Portuguese Experimental Version – Maia et al, 2006), Mini Mental State Examination (MMSE), Clock Drawing Test, Luria’s Graphic Series and Depression symptomatology questionnaire (IACLIDE – anachronism for the Portuguese denomination Inventory of Clinical Assessment of Depression); they were randomly selected from the Portuguese population that voluntarily accepted to take part in this project. All subjects selected had right hand specialization and were Caucasian. The age range was selected following the usual procedures in Portugal (18 old – 65 old, with average = 35, 80 and S.D. 13,869). The major results of tests were evaluated having as grouping factors the age, sex and scholar level. The analysis of data with Chi Square test, T tests, Anova and Pearson correlation showed great consistency with results around the world about the internal consistency of LNNB in strongly discriminating normal subject from neuropsychological affected patients. The concurrent validity with the other tests used shows again a great relation about the variables that were studied. Finally, the first Portuguese normative data about LNNB -in an experimental phase, with almost a quarter of thousand patients- were presented. We believe that this article could be of great value and help for those who are engaged in neuropsychological assessment and are principally interested in the viability of the plethora of cognitive tests particularly used to adequately evaluate normal and abnormal neuropsychological performance.
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Fractura de cadera y deterioro cognitivo: un estudio seccional-cruzado.
Cognitive impairment is a non modifiable risk factor for hip fracture.
Objective: To determine if patients older than 60 years old with hip fracture presented association with cognitive impairment.
Method: Cross-sectional study.
Patients. All patients older than 60 years admitted in the traumatology service of Enrique Garcés Hospital in Quito-Ecuador.
Data recollection. It was made by: clinical history, interview with the patient that included valoration of cognitive state by minimental test and the photograph test, interview with the relatives of the patients if they where during his or her hospital stay. The variables were analyzed in percentages and the data was utilized to evaluate if there was a mayor association between cognitive impairment and hip fracture.
Results. Of the 56 patients included 83,92% presented cognitive impairment, of this patients 85,10% presented dementia and 42,55% presented severe dementia. The association between the following variables was significant: patients older than 80 years old with severe dementia OR 8 (IC 1,75 – 41,18), analphabets with severe dementia OR 5,33 (IC 1,13 – 27,97), hip fracture with severe dementia OR 6,28 (IC 1,54 – 30,24), hip fracture with falling OR 19,09 (IC 3,36 – 187,38).
Conclusions: Severe dementia presented an association with age older or equal to 80 years and analphabetism, and hip fracture presented an association with severe dementia and falling.
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Estudio de 20 pacientes con epilepsia del lóbulo temporal medial con esclerosis del hipocampo.
In order to more precisely define temporomedial epilepsy with hippocampal sclerosis, we evaluated 20 patients with magnetic resonance imaging findings of it: 1. Abnormal high signal of the hippocampus on T2 and Flair, 2. Hippocampal atrophy and 3. Structural deformity in hippocampus. 6 patients (55%) had history of febrile seizures during early chilhood or infancy. 4 patients (36%) had head trauma and 1 patient (9%) had neonatal hypoxia. The mean age of seizure onset was 18 years. All patients had complex partial seizures at onset.15 patients (75%) had auras, with abnormal abdominal visceral sensation being the most common type (40%). 11 patients with identified risk factors had an interval between the presumed cerebral insult and the development of habitual seizures, with a mean seizure free interval of 11 years. All patients had oroalimentary automatisms, and 14 patients (70%) also had other automatisms. 9 patients (45%) had lateralizing signs, 6 patients had contralateral version of the head and eyes and 3 patients had dystonic posturing of the contralateral upper extremity. 15 patients (75%) had an abnormal electroencephalogram. 13 patients (87%) showed paroxysmal abnormalities that were localized in the anterior temporal region, over the side of the hippocampal sclerosis in 12 patients and over one temporal lobe in 1 patient with bilateral hippocampal sclerosis with paroxysmal activity. . 2 patients (13%) had interictal bilateral temporal slowing, these patients had bilateral hippocampal sclerosis.
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Parkinsonismo inducido por neurolépticos. Caracterización clínica.
Background: Neuroleptic-induced parkinsonism is the most common clinical form of extrapyramidal syndrome induced by drugs. The objective of this research was to characterize its clinical spectrum.
Materials and methods: We collected the results of clinical neurological evaluation of 28 patients with chronic psychosis and parkinsonism, in treatment with parenteral decanoate of flufenacine and other classical antipsychotic drugs. The parkinsonism was confirmed by a specialist in neurology and was completed with the implementation of the motor section of the unified scale for the assessment of Parkinson’s disease (UPDRS).
Results: The mean age was 45.6 years and the relationship male / female 0.86:1. The average time of treatment with decanoate of flufenacine was 5 years and the 60.7% of patients had other neuroleptic associated. The parkinsonism is associated with the triad of bradicinesia, stiffness and tremor. We found no significant asymmetries and the predominant involvement was in the upper limbs. Generally these are mild forms that do not produce severe disability.
Conclusions: The drug-induced parkinsonism is different from Parkinson’s disease for more bilateral involvement of dominance in the upper limbs. And it can coexist with others extrapyramidal manifestations.
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Gliomas en pediatría. Análisis anatomopatológico de 233 casos.
The purpose of this paper was to analyze the anatomopathologic characteristics (location, histopathologic classification and gradation) of 233 Central Nervous System gliomas registered in the National Pediatric Neurosurgery Reference Center (Cuba), and to compare these results with other series from the literature.
Results: Gliomas represented 49,6 % of the total nervous system tumors diagnosed while collecting this series. The histopathologic gradation of the gliomas was: Grade I: 71, Grade II: 84, grades III: 64 and grade IV: 6. The histopathologic classification was: 107 grade I-II Astrocytoma; 51 grade III-IV Astrocytoma; 37 grade I-II Ependymoma; 21 grade III Ependymoma ; 7 grade II Oligodendroglioma; 3 grade II Oligoastrocytoma and 1 grade III Oligoastrocytoma. The locations of the gliomas were: 222 intracranial (127 supratentorial y 95 infratentorial) and 11 in the spinal cord. Male to female ratio was1.3:1.
Conclusions: Supratentorial gliomas were more frequent, different from other reported series. Pilocytic Astrocytoma was the more frequent glioma in this study.
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Información epidemiológica sobre la morbilidad hospitalaria en el Instituto Nacional de Neurología y Neurocirugía de la ciudad de México durante el período 2002-2007.
Hospital morbidity provides information for the strategic planning and implementation of health actions and programmes.
Objective: To determine the main causes of hospital morbidity, its distribution and behavior during the period 2000-2007 at the National Institute of Neurology and Neurosurgery in Mexico City (INNN).
Materials and Methods: An observational, transversal retrolective study was carried out. Data was collected from discharge notes and from the hospital database from the Epidemiology Department. The different rates of morbidity were calculated and their tendencies were determined for a period of six years.
Results: The main causes of morbidity were malignant encephalic tumors and benign tumors from other endocrine glands. However, a tendency to the increment of subarachnoid hemorrhage (p=0.03), cerebrovascular diseases (p=0.04) and benign brain tumors and from other parts of the central nervous system (p=0.01) was found.
Conclusions: Even though this is not a population study, the information obtained from one of the main training institutes and centers of the world and the largest in Latin America, is of great importance. It can be seen how, even though cerebrovascular diseases showed a tendency to increase, benign encephalic tumors occupy the main rates regarding morbidity.
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Esclerosis Múltiple y neuroplasticidad: Eventos en la patogenia y proyecciones terapéuticas.
Several forms of neural plasticity can occur in the adult Nervous System activated by experience and regulated by the interaction among the environment, stress, physical exercises, and physiological conditions (i.e. pregnancy). Recent studies demonstrate that specific neuroplastic events occur in Multiple Sclerosis (MS) and its experimental animal model, as well as some punctuate failures in neuroplastic mechanisms. Basic pathogenic mechanisms of MS related to axonal and myelin integrity loss and associated to inflammation processes and the dual roll of inflammation in the neurodegeneration/neuroprotection relation are reviewed. We emphasize in the actual therapies trends in those topics and in the current evidences of neuroplastic changes in MS.
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El marcapasos del parpadeo en un abrir y cerrar de ojos.
Clinical and functional neurological studies have suggested that the motor cortex, M1, does not control facial muscles, mostly the superior ones. Recent studies including current transcranial magnetic stimulation, showed that neural structures related with the cingulate cortex is the main brain region controlling facial muscles in humans. These facts will help clarifying discrepant findings in clinical neurology related to the well known -but not well understood- central facial palsy, among other applications.
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La Atención Involuntaria: Aspectos clínicos y electrofisiológicos.
One of the brain functions presenting more interest within the study of cognitive neurosciences is attention, which has a voluntary and an involuntary component. Involuntary attention is related to the detection of potentially relevant stimulus but originally not attended. It is considered that involuntary attention is made up by at least three stages: a) an automatic mismatch detection of a stimulus related to a given sensory context, b) an involuntary attention change associated to the orientation response, and c) a re-orientation towards the originally carried out task. The three-stage model of involuntary attention has been originated mainly based on the results obtained by Event Related Potentials (ERP) technique, by which three electrophysiological components associated with each stage of the theoretical model have been identified: mismatch negativity (MMN), P3a, and reorientation negativity (RON). This work reviews describing experimental, morphological, and topographic characteristics of each one, as well as their appearance through the development, and their alteration in clinical populations, such as traumatic brain injury, alcoholism and attention deficit disorder, is made. Finally, research perspectives are defined for future studies.
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Infarto cerebral y síndrome antifosfolípido primario.
Antiphospholipid syndrome (AFS) is one of the most frequent acquired thrombophilias, is characterized by venous thromboembolism, and/or arterial thromboembolism, and/or pregnancy morbidity, together with the presence of antiphospholipid antibodies. Thrombosis can be at both venous and arterial level, are usually recurrent and frequently affect cerebral circulation. Cerebral ischemia associated with antiphospholipid antibodies is the most common arterial manifestation and the only neurological manifestation accepted for diagnosis. Although it is difficult to predict which patients with antiphospholipid antibodies will develop thrombosis, once a thrombotic event has taken place, secondary prevention with anticoagulation is mandatory. We review the main epidemiological and diagnostic aspects and secondary prevention treatment in patients with ischemic stroke secondary to AFS.
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Jerarquía de los diseños epidemiológicos. Revisión de las publicaciones de los 17 años de la Revista Ecuatoriana de Neurología.
There are several types of epidemiological designs and they can be organized in levels of evidence. These designs are divided in observational and experimental. The observational studies can be cohort, case control and cross sectional studies. The experimental studies are the clinical trials. Due to the importance of the meta-analysis they will also be mentioned. All the articles published in the Ecuadorian Journal of Neurology were gathered since its first edition in 1992. During these 17 years, 271 articles have been published from which 94 are original articles. Clinical trials represented 12.8% of all the original articles. A decrease in the number of series reports and an increase of cohort and cross sectional studies was observed. From 1992 to 2004 most of the articles were from national authors but then, foreign authors represented the higher percentage. We think it is very important to promote the national production especially of clinical trials because they would provide a better evidence and, more importantly, evidence that could be applied to the Ecuadorian population.
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Video filmación en Neurociencias: Informe técnico-clínico.
Near the end of the 19th century, cinematography developed and was immediately recognized as a new technique applicable to the field of the medicine and we owe Gheorghe Marinescu and Arthur Van Gehuchten their introduction in the field of the neurology. Between 1899 and 1914 Marinescu and Van Gehuchten perfected the use of the cinematography like a diagnostic method in neuroscience based mainly on the recording of several patients with the same dysfunctions to be able to appreciate the wide spectrum of oneself entity, or to value certain therapy filming the patients before and after certain treatment. This contribution to the medicine and in short to the clinical neurology it marked an important landmark that lasts and it is continued using after more than one century.
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Hemangioblastoma de fosa posterior asociado a enfermedad de Von Hippel Lindau.
Hemangioblastomas are benign tumors with a cystic appearance. They represent between 1-2% of tumors affecting the nervous system and between 8-12% of all expanding processes of the posterior fossa in adults. Hemangioblastomas are characteristically found in young adults and have a peak incidence in the fourth decade of life. They are associated with Von Hippel Lindau (VHL) disease, an autosomic dominant trait with incomplete penetrance. We report a case of a 33 years old female with no significant family history, the past medical history was significant for ventriculoperitoneal shunting due to hydrocephalus secondary to reactive gliosis of the posterior fossa.
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Tratamiento del Temblor Esencial mediante Talamotomía Estereotáxica.
Essential tremor is characterized by its low frequency, mainly affecting upper extremities and less frequently lower limbs and head. The origin of this disease is not well known, but it has been described in familiar forms as an autosomic dominant hereditary transmission pattern. We report three patients with essential tremor refractory to pharmacotherapy who underwent stereotactic thalamotomy of the ventrolateral nucleus. In all cases the procedure was unilateral. In two patients, the tremor completely remitted and in one patient the tremor decreased more than 50%. Tremor was defined by the Unified Parkinson’s scale. There were no complications related to surgery. We conclude that stereotactic ventrolateral nucleus thalamotomy can be of benefit in patients with essential tremor due to its low morbidity in selected patients.
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Diagnóstico de un paciente con crisis porfírica hepática aguda.
We present a 21 year old woman treated with carbamazepine because of epileptic seizures. She was evaluated at the epilepsy section for possible seizures associated with abdominal pain, psychosis, dysautonomic features and elevated hepatic enzymes. Diagnosis was based on clinical features and biochemical determination of urinary porphobilinogen and absence of fluorescence for porphyrin in blood sample and hepatic tissue. Conclusions: Acute Intermittent Porphyria constitutes a rare cause of symptomatic seizures but the association of seizures with abdominal pain, dysautonomic features, and psychosis suggest the disease and its recognition is very important because it is potentially mortal but suitable to improve with adequate treatment.
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Síndrome de Wolf-Hirschhorn. A propósito de un caso con un cromosoma 4 con satélites.
Introduction: Wolf-Hirschhorn Syndrome (WHS) constitutes an illness of great neuropediatric interest. The correlation cariotype-phenotype in WHS is debated and two phenotypes one “classic” and other “half,” and two genes candidates WHSC 1 and WHSC 2 are reported.
Case report: in the present article we report the clinical and cytogenetics findings in a 13 year-old patient, with “sui generis” cariotype 46, XY, 4ps in high resolution chromosomal study with G bands and Nor techniques. The different clinical findings, cytogenetics studies and the correlation genotype-phenotype were reviewed and discussed according to the current knowledge.
Conclusions: The discovery of the chromosome 4 with satellites in patient with clinical manifestations of the syndrome, it constitutes an evidence that the SWH is the true syndrome for contiguous genes. The human genome and molecular markers studies in this case, give us light in the physiological and pathological roles of those genes WHSC 1 and WHSC 2, reported in the literature.
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Depression and Anxiety in Parkinson’s Disease, Metric Properties of the Beck´s Depression and Anxiety Inventories. A K2 Factorial Design.
Background: Study to investigate the concurrent validity of the Beck Depression Inventory and Beck Anxiety Inventory evaluation scales against the ICD-10.
Methods: A K2 factorial design for studying the metrics properties of the BDI and BAI in parkinsonian outpatients.
Results: 147 parkinsonian patients were included; 44 patients has anxiety and depression; only depression 19; only anxiety 31; finally 53 subjects don’t have depression or anxiety. The BDI AUC was [0.858]. The BAI AUC was of [0.907]. The cut score was of 14/15 for the BDI and 13/14 for the BAI. The factorial design resulted in the two factors (depression and anxiety) has the best functional correlation in the regression.
Conclusions: The results we present bear out this lack of dimensionality, since we found that the BDI AUC-measured discriminative ability for anxiety was [0.739]. With regard to the BAI, this is employed to discriminate the depressed, AUC values of [0.771].
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Características Neuropsicológicas del Proceso del Pensamiento en los Subtipos de Esclerosis Múltiple.
Introduction: The study of thinking has been a superior but forgotten psychological process in the neuropsychological investigation field. But it plays an important role in the human being auto regulation. Objective: to identify the neuropsychological characteristics of thinking process in patients with Multiple Sclerosis considering its expression in the different subtypes of the disease. Material and methods: It included a sample of 60 admitted patients in “Faustino Pérez Hernández” Rehabilitation Hospital in Sancti Spíritus province, Cuba. A neuropsychological battery of thinking was applied from Luria’s postulates, directed to explore its practical-constructive and logical-verbal expression with techniques of simple analogies, test of lineal syllogism, interpretation of proverbs, construction of cubes, test of prepositional structures, solving of arithmetic problems and Paced Auditory Serial Addition Test (PASAT-3). Results: Investigating the structure of thinking in its logical-verbal expression, difficulties were evident in the establishment of logical links, in simultaneous synthesis, andhypothesis contrast, while in their practical-constructive expression, moderate and partial difficulties were evidenced in space synthesis and in programming activities and behavioural planning. Conclusions: Deterioration was verified in the processes of practical-constructive and logical-verbal thinking. Greater deficiencies were found in progressive clinical forms, specifically the secondary progressive multiple sclerosis.
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Caracterización Clínico-Epidemiológica del Temblor Esencial en Familias de Holguín y Matanzas, Cuba.
Essential tremor (ET) is a bilateral mostly simmetric disorder, usually postural but kinetic and rest tremor can be present, it involves the arms and hands. A tranversal study was made to get an epidemiological, functional and fenomenological characterization of ET. Patients with clinical criteria of ET were selected from movement disorders clinic from two cuban provinces; the Fahn, Tolosa and Marín functional disability scale was applied to the sample. A total of 105 patients were evaluated, 64.7% female, 40.0% over 60 years, 80.9% were white, in 36.1% tremor began between 21 and 40 years, superior limbs were affected in 90.4%, 85.9% showed a beginning age anticipation, 87.7% were from Holguín, just 8 sporadic cases; in 53.8% associated diseases were found, an autosomal dominant inheritance was evident. Functions included in the scale’s part B showed a moderate disability (25-49%) and those which belong to part C had low disability (1-24%).
Conclusions. Most of the sample was from Holguín. Female, whites and older than 60 years were predominant, tremor mostly began between 21 and 40 years, superior limbs were the most affected body part, dominant autosomal inheritance was predominant, with anticipation in begining age. Association with some other diseases was frequent, many patients showed functional disability.