Impaired vertical phoria adaptation in patients with cerebellar dysfunction.

PURPOSE: To determine whether phoria adaptation to a vertical prism disparity is altered in patients with cerebellar dysfunction. METHODS: With a computer-aided haploscope, adaptive responses of fusion-free eye position to a 10- or 30-minute period was measured in subjects wearing a 3-prism diopter vertical prism over one eye. Thirteen patients with well-documented cerebellar diseases who did not have manifest ocular misalignment or limited versional eye movement and age-matched healthy subjects participated. RESULTS: The mean +/- SD percentage of vertical phoria adaptation was 13% +/- 22% and 20% +/- 16% for the 10- and 30-minute adaptations, respectively. These levels were significantly smaller than the respective ones in the age-matched control group (P < 0.001, repeated measures MANOVA). Seven (54%) of 13 patients, including two with genetically confirmed pure cerebellar lesions (spinocerebellar ataxia type 6), showed markedly reduced responses to both the 10- and 30-minute adaptations. In all three patients with acute cerebellar ataxia, the adaptive response was improved at the same time as remission of cerebellum-associated neurologic deficits. CONCLUSIONS: Phoria adaptation to vertical binocular disparity is frequently impaired in patients with cerebellar dysfunction. These results bolster the hypothesis that phoria adaptation is a cerebellar-dependent response.

Benign adult familial myoclonic epilepsy (BAFME) with night blindness.

This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be due to a channelopathy. On the other hand, the mutation of a calcium-channel gene in Xp11.23 was recently reported in incomplete X-linked congenital stationary night blindness (CSNB). Although the gene locus of BAFME was recently assigned to 8q23.3-q24.1, the causative gene has yet to be identified. The present familial case suggests that BAFME may also be a disease of the calcium channel that is present in the retina and the central nervous system (CNS).

The application of a feeding protocol in older patients fed through percutaneous endoscopic gastrostomy tubes by the intermittent or bolus methods: a single-center, retrospective chart review.

BACKGROUND: While previous studies have reported that feeding protocols improved clinical outcomes in critical care settings, the evidence supporting the application of feeding protocols in older patients has not yet been assessed. Here, we evaluated the effects of a feeding protocol in older patients fed through percutaneous endoscopic gastrostomy (PEG) tubes. METHODS: We conducted a retrospective chart review of 109 patients aged >=65 who underwent PEG placement between April 2010 and March 2012 at a single acute care hospital. The protocol group was administered enteral nutrition (EN) according to a feeding protocol, while the non-protocol group was administered EN at the attending physician's discretion. RESULTS: Length of hospital stay (LOS) overall and after EN initiation were significantly shorter in the protocol group than in the non-protocol group. (LOS: p=0.001; LOS after EN initiation: p=0.026). During the second week after EN initiation, significantly fewer patients had percutaneous oxygen saturation (SpO2) <93% and required oxygen therapy in the protocol group (p=0.032 for both comparisons). Nutrition intakes via PEG in the protocol group were significantly greater from Days 6 to 13 for energy and from Days 6 to 11 for protein compared with the non-protocol group. CONCLUSION: The application of a feeding protocol after PEG placement in older patients was associated with shorter LOS, more efficient EN delivery, and lower incidence of low SpO2 than non-protocol group. Larger prospective studies are required to determine whether a feeding protocol is useful in improving health outcomes in this population.

Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36.

OBJECTIVE: To investigate acoustic function of Asidan/spinocerebellar ataxia type 36 (SCA36) in which sensorineural hearing loss may be found as one of extracerebellar symptom that can be a distinguishable feature from other degenerative ataxias. METHODS: Acoustic function in the groups of normal control (n=31), Asidan/SCA36 (n=13), cortical cerebellar atrophy (CCA, n=28), multiple system atrophy of cerebellar predominance (MSA-C, n=48), SCA31 (n=4), and other forms of SCAs (n=14) was evaluated by pure tone average (PTA) calculated by the results of audiogram and brainstem auditory evoked potentials (BAEPs). RESULTS: PTA was significantly decreased in Asidan/SCA36 in comparison to normal control and other ataxic groups, but not significant within other ataxic groups and normal control. In comparison to other groups, Asidan/SCA36 showed a constant depression at 7 different frequencies in audiogram, especially at 4000 and 8000 Hz. BAEPs in 2 Asidan/SCA36 cases suggested possible involvement in the inner ear or the peripheral part of the auditory system. PTA in Asidan/SCA36 cases significantly correlated with their severity of ataxia. CONCLUSIONS: In addition to signs for motor neuron involvement, acoustic impairment in Asidan/SCA36 is another characteristic clinical feature that is distinguishable from other forms of SCAs.

Which is more effective to prevent enteral nutrition-related complications, high- or medium-viscosity thickened enteral formula in patients with percutaneous endoscopic gastrostomy?: a single-center retrospective chart review.

BACKGROUND: Administration of thickened enteral formula (TEF) through a percutaneous endoscopic gastrostomy (PEG) tube is becoming a common practice in Japan to prevent enteral nutrition (EN)-related complications. However, what constitutes an adequate viscosity of TEF remains unclear. The aim of this study was to examine the clinical effects of TEFs with different viscosities administered through PEG. METHODS: The subjects were 50 patients admitted to a single institution who underwent PEG placement. Viscosities of TEFs frequently administered to the patients were measured, and EN-related complications, nutrition intakes, and clinical outcomes were compared between high- and medium-viscosity TEFs during the first 2 weeks after TEF feeding initiation. RESULTS: The measured viscosities of high- and medium-viscosity TEFs were 10,382 ± 931 and 3492 ± 296 mPa·s, respectively. Protein and fluid intakes with TEF were significantly less in the high-viscosity group. There was no significant difference in EN-related complications, energy intakes, or clinical outcomes between high- and medium-viscosity TEFs. CONCLUSION: In this study, high-viscosity TEFs showed no statistical difference in either EN-related complications or clinical outcomes, in comparison with medium-viscosity TEF.

Comparisons of acoustic function in SCA31 and other forms of ataxias.

OBJECTIVE: To investigate whether acoustic impairment can be one of the characteristic extracerebellar symptoms in sporadic and hereditary ataxias including spinocerebellar ataxia type 31 (SCA31). METHODS: We investigated genotypes of dominant ataxia families, and determined a frequency of each form in our cohort of 154 families. Acoustic function in the groups of various forms of ataxia with multiple system atrophy of cerebellar predominance (MSA-C), cortical cerebellar atrophy (CCA), and hereditary ataxias including SCA31 was evaluated by using audiogram and brainstem auditory evoked potentials (BAEPs). RESULTS: Genetic analysis of dominant ataxia families revealed that a frequency of SCA31 in our cohort was fewer than that reported from other areas of Japan, indicating that SCA31 is not widely distributed throughout Japan. Results of audiogram showed no significant difference of hearing levels among ataxic groups, and those of BAEPs did not support inner ear dysfunction in SCA31 in which hearing loss had initially been suggested as one of its characteristic symptoms. CONCLUSION: This study suggests that acoustic impairment is neither specific to SCA31, MSA-C and CCA nor useful in making a differential diagnosis among them.

Diffusion-weighted magnetic resonance imaging of a severe heat stroke patient complicated with severe cerebellar ataxia.

A 78-year-old woman was admitted for severe heat stroke with brain damage. She was unconscious on arrival at the emergency room. Her armpit temperature was 42.0 degrees C and blood pressure was 76/25 mmHg. She was rapidly cooled and given intensive treatment. On magnetic resonance imaging, T1- and T2-weighted images showed no significant signals, but diffusion-weighted images demonstrated localized symmetrical injuries of the cerebellum and thalami. She gradually became conscious, but severe cerebellar ataxia persisted.

Multiple sclerosis associated with interferon-alpha therapy for chronic myelogenous leukemia.

We report a chronic myelogenous leukemia (CML) patient in chronic phase (CP) who developed multiple sclerosis (MS) in association with interferon-alpha (IFN-alpha) administration. In our patient, recombinant IFN-alpha2b therapy induced hematologically complete and cytogenetically major partial response for CML first, and sequential central nervous system dysfunction evolved, which subsided shortly after the cessation of its administration. Restarting IFN-alpha therapy by changing to a natural type of IFN-alpha resulted in rapid exacerbation of MS. The patient's neurological symptoms progressed gradually, but partial hematologic response persisted without any IFN-alpha derivatives or anti-cancer agents until a matched unrelated donor transplant procedure was performed. Myeloablative therapy led to lasting stable state of MS and finally to complete cytogenetic remission of CML. This patient's presenting clinical course and laboratory data suggest that both exertion of anti-leukemic activity and autoimmune process of MS might be mediated by mutual mechanisms, such as enhancement of specific cellular immunity induced by IFN-alpha.