ABSTRACT
Controversy exists whether NE after LT are more frequently observed in children or adults. We aimed to compare the incidence and outcomes for NE after LT in pediatric and adult recipients. A single-center cohort study, including all LT between 2001 and 2013, was performed. Definition of NE included impaired consciousness, delirium, seizures, focal neurologic deficit, visual impairment, or slurred speech. A cohort of 443 consecutive LT recipients was included: 307 adults and 136 children. Cumulative incidence of NE was similar between adults 15% (n = 41) and children 16% (n = 20; P = .73) with a complete neurological recovery in 62% and 95% of the patients, respectively (P < .0001). Adults with NE had significantly lower survival (70% vs 76%; P = .015) with a HR of 2.36; this was similarly observed in children (45% vs 66%; HR 2.05, CI 0.66; 6.34). Independent risk factors for NE in adults were pre-LT ascites, delta sodium, and post-LT hypomagnesemia, whereas in children pre-LT encephalopathy ≥II and serum albumin were associated with NE. Although a similar incidence of NE after LT was observed, children were more likely to achieve neurological recovery. Risk factors for the development of NE are difficult to assess in both populations.
Subject(s)
Liver Transplantation , Nervous System Diseases/etiology , Postoperative Complications/etiology , Adult , Age Factors , Child , Child, Preschool , Female , Humans , Incidence , Infant , Longitudinal Studies , Male , Middle Aged , Nervous System Diseases/diagnosis , Nervous System Diseases/epidemiology , Postoperative Complications/diagnosis , Postoperative Complications/epidemiology , Prognosis , Risk FactorsABSTRACT
OBJECTIVE: Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the genetic underlying cause in these families, and to characterise the phenotype in our large cohort. METHODS: DNA samples of all currently known families with HMERF without molecular genetic cause were obtained from 12 families in seven different countries. Clinical, histopathological and muscle imaging data were collected and five biopsy samples made available for further immunohistochemical studies. Genotyping, exome sequencing and Sanger sequencing were used to identify and confirm sequence variations. RESULTS: All patients with clinical diagnosis of HMERF were genetically solved by five different titin mutations identified. One mutation has been reported while four are novel, all located exclusively in the FN3 119 domain (A150) of A-band titin. One of the new mutations showed semirecessive inheritance pattern with subclinical myopathy in the heterozygous parents. Typical clinical features were respiratory failure at mid-adulthood in an ambulant patient with very variable degree of muscle weakness. Cytoplasmic bodies were retrospectively observed in all muscle biopsy samples and these were reactive for myofibrillar proteins but not for titin. CONCLUSIONS: We report an extensive collection of families with HMERF with five different mutations in exon 343 of TTN, which establishes this exon as the primary target for molecular diagnosis of HMERF. Our relatively large number of new families and mutations directly implies that HMERF is not extremely rare, not restricted to Northern Europe and should be considered in undetermined myogenic respiratory failure.
Subject(s)
Genetic Diseases, Inborn/epidemiology , Muscular Diseases/epidemiology , Respiratory Insufficiency/epidemiology , Adult , Aged , Connectin/genetics , Exome/genetics , Female , Genetic Diseases, Inborn/genetics , Genetic Diseases, Inborn/pathology , Genetic Linkage/genetics , Genetic Predisposition to Disease/genetics , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Muscle, Skeletal/pathology , Muscular Diseases/genetics , Muscular Diseases/pathology , Mutation/genetics , Pedigree , Phenotype , Respiratory Insufficiency/genetics , Respiratory Insufficiency/pathologyABSTRACT
We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the C10orf2 (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.
Subject(s)
Myasthenia Gravis/diagnosis , Ophthalmoplegia, Chronic Progressive External/diagnosis , DNA Helicases/genetics , Diagnosis, Differential , Humans , Male , Middle Aged , Mitochondrial Proteins/genetics , Mutation , Ophthalmoplegia, Chronic Progressive External/geneticsSubject(s)
Brain Death/physiopathology , Reflex , Adult , Cohort Studies , Female , Humans , Male , Statistics, NonparametricABSTRACT
Zolpidem (ZLP) is an imidazopyridine that binds to GABA receptors. We report on improvement of blepharospasm in 3 patients treated with ZLP. The GABAergic action of this drug on the output structures of the basal ganglia could explain the improvement of blepharospasm in these patients.
Subject(s)
Blepharospasm/drug therapy , GABA Agonists/therapeutic use , Pyridines/therapeutic use , Aged , Humans , Male , Middle Aged , ZolpidemABSTRACT
Se estudió el tiempo de activación motora (TAM), considerando para el presente trabajo como el intervalo de procesamiento intracerebral durante una prueba de Tiempo de Reacción (TR), en 17 pacientes con enfermedad de Parkinson y en 7 voluntarios sanos. El TAM fue calculado substrayendo al TR premotor los tiempos de conducción aferente y eferente obtenidos por medio de potenciales evocados somatosensitivos y motores. Comparados con los voluntarios sanos los pacientes con enfermedad de Parkinson presentaron valores de TAM significativamente prolongados (p < 0,02). En un grupo menor de 9 pacientes se estudiaron el TAM y el potencial cognitivo P300 mientras se encontraban bajo tratamiento antiparkinsoniano y también luego de un período de 12 horas de supresión medicamentosa. Durante el período de supresión los pacientes exhibieron un importante incremento en el TAM (P < 0,01) sin cambios significativos en la latencia o amplitud del potencial P300. Estos resultados sugieren que el enlentecimiento del TAM corresponde a un funcionamiento anormal de los circuitos dopaminérgicos involucrados en la iniciación del movimiento y no esté relacionado a cambios en la reactividad o en el estado cognitivo
Subject(s)
Humans , Male , Female , Middle Aged , Parkinson Disease/physiopathology , Motor Activity/physiology , Reaction Time , Electromyography , Evoked Potentials, Auditory , Evoked Potentials, Somatosensory , Levodopa/pharmacologyABSTRACT
Se estudió el tiempo de activación motora (TAM), considerando para el presente trabajo como el intervalo de procesamiento intracerebral durante una prueba de Tiempo de Reacción (TR), en 17 pacientes con enfermedad de Parkinson y en 7 voluntarios sanos. El TAM fue calculado substrayendo al TR premotor los tiempos de conducción aferente y eferente obtenidos por medio de potenciales evocados somatosensitivos y motores. Comparados con los voluntarios sanos los pacientes con enfermedad de Parkinson presentaron valores de TAM significativamente prolongados (p < 0,02). En un grupo menor de 9 pacientes se estudiaron el TAM y el potencial cognitivo P300 mientras se encontraban bajo tratamiento antiparkinsoniano y también luego de un período de 12 horas de supresión medicamentosa. Durante el período de supresión los pacientes exhibieron un importante incremento en el TAM (P < 0,01) sin cambios significativos en la latencia o amplitud del potencial P300. Estos resultados sugieren que el enlentecimiento del TAM corresponde a un funcionamiento anormal de los circuitos dopaminérgicos involucrados en la iniciación del movimiento y no esté relacionado a cambios en la reactividad o en el estado cognitivo (AU)
Subject(s)
Comparative Study , Humans , Male , Female , Middle Aged , Parkinson Disease/physiopathology , Motor Activity/physiology , Reaction Time , Evoked Potentials, Auditory , Evoked Potentials, Somatosensory , Electromyography , Levodopa/pharmacologyABSTRACT
Fueron estudiados 989 pacientes con linfoma. Tuvieron infiltración linfomatosa craneocerebral 53 casos (5.3%). Los principales factores de riesgo para esta complicación fueron: a. estado avanzado del linfoma (III o IV); b. las forma difusas histiocíticas, difusa pobremente diferenciada o celularidad mixta: c. el compromiso de la medula osea y de la quimioterapia sistémica previa. En el 32% de los casos la infiltración meníngea linfomatosa fué asintomática y representó hallazgos de autopsia. La tomografía cerebral fué de utilidad para detectar infiltraciones parenquimatosas focales, no así para las infiltraciones meníngeas. El tiempo medio de sobrevida en pacientes con infiltración meníngea linfomatosa fué de 4.3 meses, siguientes al uso combinado de terapia radiante a craneo total, quimioterápia sistémica y/o intratecal con methotrexate. Dos casos con linfoma cerebral primario no estuvieron asociados con inmunodeficiencia. Hemorragias intracraniales se observaron en 20 pacientes (2%), en relación con alteraciones plaquetarias. En 15 casos hubo infección del SNC (1.5%), causada por bacterias comunes o por agentes oportunistas. En 7 de esos casos el diagnóstico se hizo por autopsia. En 8 de 36 casos autopsiados (22%) se observaron desmielinización, microcalcificaciones, necrosis coagulativa o gliosis, sugestivas de complicaciones por los tratamientos efectuados
