595 research outputs found
Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense mutations within the CACNL1A4 gene. Here we report on a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes of acute paranoid psychosis with anxiety and visual hallucinations associated with migraine attacks. Based on the clinical and haplotype evidence indicating linkage to chromosome 19 in this family, we hypothesize that a dysfunction of the mutated calcium channel may be involved not only in the development of hemiplegic migraine but also in the acute psychotic episodes observed in these patients
Spatial and temporal patterns of dissolved ammonium, manganese, and silica fluxes from bottom sediments of Long Island Sound, U.S.A.
The flux of dissolved NH4+, Mn++, and Si(OH)4 from bottom sediments was measured directly at 14 stations throughout central and western Long Island Sound, U.S.A…
Morphological differences in Parkinson's disease with and without rest tremor
Background : Rest tremor is a hallmark of Parkinson's disease (PD), but its pathogenesis remains incompletely understood. Nigro-striatal dopamine deficiency correlates best with bradykinesia, but not with tremor. Oscillating neurons in one or multiple localizations within the basal gangliathalamo-cortical loop may cause rest tremor, and an active contribution of the cerebellum and the cerebello-thalamo-cortical projections has been postulated. Objective : To compare the pattern of grey matter volume in PD patients with and without tremor to identify structural correlates of rest tremor. Methods : Voxel-based morphometry (VBM) of a high-resolution 3 Tesla, T1-weighted MR images, pre-processed according to an optimized protocol using SPM2, was performed in 24 patients with mild to moderate PD comparing local grey matter volume in patients with (n = 14) and without rest tremor (n = 10). Results : Grey matter volume is decreased in the right quadrangular lobe and declive of the cerebellum in PD with tremor compared to those without (PFDR < 0.05). Conclusions : These results demonstrate for the first time morphological changes in the cerebellum in PD patients with rest tremor and highlight the involvement of the cerebellum and cerebello- thalamo-cortical circuit in the pathogenesis of parkinsonian rest tremo
Outcomes Following Cordotomy by Coblation for Bilateral Vocal Fold Immobility.
Importance: Bilateral vocal fold immobility (BVFI) can result in considerable voice and airway impairment. Although the carbon dioxide (CO2) laser is commonly used in transverse cordotomy, the coblator, a minimally invasive, low-thermal technology, has been increasingly used in otolaryngology.
Objective: To investigate outcomes associated with coblation to treat BVFI.
Design, Setting, and Participants: A retrospective case series was conducted between January 2012 and June 2017 including 19 patients with BVFI who underwent cordotomy by coblation in a single tertiary care institution.
Main Outcomes and Measures: Clinical, operative, and health status data for all patients were reviewed. Quality of life was measured by the EuroQol 5-Dimensions (EQ-5D), and the Voice Handicap Index (VHI) was used to measure vocal cord function.
Results: Nineteen patients were eligible for inclusion, 15 of which underwent cordotomy by coblation for BVFI without stenosis. Mean age was 57 years with 13 (68%) women. The etiology of BVFI included thyroidectomy in 8 (42%) patients and prolonged intubation in 7 (37%). Mean length of surgery for BVFI without stenosis was 17 minutes; mean operating room (OR) time was 63 minutes compared with 88 scheduled OR minutes (effect size, 25 minutes; 95% CI, 9 to 40 minutes). During follow-up, 4 (27%) of these patients developed granulation tissue postoperatively. Following surgery, patient-reported shortness of breath significantly improved, with 10 of 14 (71%; 95% CI, 45% to 88%) patients with some level of preoperative breathing difficulty experiencing improvement in their breathing. Stridor also significantly improved, with 10 of 12 (83%; 95% CI, 55% to 95%) patients with some level of preoperative stridor improved after surgery. The EQ-5D results trended toward improvement postoperatively (0.67 to 0.80; effect size, 0.13; 95% CI, -0.10 to 0.34). The functional (22 to 12; effect size, -10; 95% CI, -19 to -2), emotional (23 to 11; effect size, -12; 95% CI, -23 to -3), and total VHI all significantly improved (68 to 39; effect size, -29; 95% CI, -49 to -8).
Conclusions and Relevance: Initial outcomes of cordotomy by coblation revealed that this technique was a safe and efficient approach to treating BVFI. Coblation was associated with significant reduction in OR time compared with scheduled time, and patients experienced significant improvement in shortness of breath, stridor, and vocal cord function
Bogota-VAC – A Newly Modified Temporary Abdominal Closure Technique
Background: We present Bogota-VAC, a newly modified temporary abdominal closure (TAC) technique for open abdomen condition after abdominal compartment syndrome (ACS).
Methods: A thin isolation bag (Bogota bag) and a vacuum assisted closure (VAC) system were combined. A matching bag was tension-free fixed on the abdominal fascia by fascia suture. A ring shaped black polyurethane foam of the VAC system was placed into the gap between Bogota bag, abdominal fascia and the wound edge. A constant negative topic pressure of 50–75 mmHg was used in the VAC system.
Results: Intra-abdominal pressure (IAP: 22 ± 2 mmHg)of four patients with ACS after severe traumatic brain injury and one patient with isolated ACS after blunt abdominal trauma decreased significantly (p = 0.01)after decompressive laparotomy and treatment with Bogota-VAC (IAP: 10 ± 2 mmHg) and remained low, measured via urinary bladder pressure. Intracranial pressure (ICP) in the four traumatic brain injury patients decreased from 42 ± 13 mmHg to 15 ± 3 mmHg after abdominal decompression. Cerebral perfusion pressure (57 ± 14 mmHg) increased to 74 ± 2 mmHg.
Conclusion: The advantage of the presented Bogota-VAC is leak tightness, wound conditioning (soft tissue/fascia), skin protection and facilitation of nursing in combinationwith highest volume reserve capacity (VRC), thus preventing recurrent increased intra-abdominal and intracranial pressure in the initial phase after decompression of ACS compared to other TAC techniques
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. A 63-year-old woman with progressive cognitive decline, pyramidal signs, and bilateral cataract was treated by chenodeoxycholic acid following the diagnosis of cerebrotendinous xanthomatosis due to a homozygous variant in CYP27A1. A 32-year-old man with adult-onset spastic paraplegia, in whom a variant in ABCD1 confirmed an X-linked adrenoleukodystrophy, was treated with corticoids for adrenal insufficiency. The third patient, a 28-year-old woman with early-onset developmental delay, epilepsy, and movement disorders was treated with a ketogenic diet following the identification of a variant in SLC2A1, confirming a glucose transporter type 1 deficiency syndrome. This case study illustrates the challenges in the timely diagnosis of medically actionable neurogenetic conditions, but also the considerable potential for improving patient health through modern sequencing technologies
Measurements of thorium and uranium daughters in radioenvironmental samples using γγ-coincidence spectrometry
We present the performance of a γγ-coincidence spectrometer for measuring the activities of thorium and uranium daughters in environmental samples. The spectrometer consists of two NaI(Tl) detectors facing each other inside a low-background passive shield. We present coincidence gating schemes for achieving the best signal-to-noise ratios, coincidence detection efficiencies, background levels, and minimum detectable activities. The spectrometer is simulated using Geant4 to correct sample efficiencies for self-absorption effects. The device is used to measure thorium and uranium daughter activities in Brazil nuts, potting mix, and magazine paper. Our results for Brazil nuts agree with some, but not all, previous measurements. Thorium or uranium daughter activities have previously not been reported for commercial potting mix. For magazine paper, our measured activities are lower than most previously determined values
The MafA transcription factor becomes essential to islet β-cells soon after birth
The large Maf transcription factors, MafA and MafB, are expressed with distinct spatial-temporal patterns in rodent islet cells. Analysis of Mafa(-/-) and pancreas-specific Mafa(∆panc) deletion mutant mice demonstrated a primary role for MafA in adult β-cell activity, different from the embryonic importance of MafB. Our interests here were to precisely define when MafA became functionally significant to β-cells, to determine how this was affected by the brief period of postnatal MafB production, and to identify genes regulated by MafA during this period. We found that islet cell organization, β-cell mass, and β-cell function were influenced by 3 weeks of age in Mafa(Δpanc) mice and compromised earlier in Mafa(Δpanc);Mafb(+/-) mice. A combination of genome-wide microarray profiling, electron microscopy, and metabolic assays were used to reveal mechanisms of MafA control. For example, β-cell replication was produced by actions on cyclin D2 regulation, while effects on granule docking affected first-phase insulin secretion. Moreover, notable differences in the genes regulated by embryonic MafB and postnatal MafA gene expression were found. These results not only clearly define why MafA is an essential transcriptional regulator of islet β-cells, but also why cell maturation involves coordinated actions with MafB
The use of visual methods to explore how children construct and assign meaning to the ''self'' within two urban communities in the Western Cape, South Africa
This study aimed to explore how children construct and assign meaning to the ''self'' within two urban communities of
Cape Town in South Africa. Using a child participation methodological framework data were collected using Photovoice
and community maps with 54 participants between the ages of 9 and 12. Feelings of safety, social connectedness, and
children's spaces were found to be central to the ways in which the participants constructed and assigned meaning to the
''self.'' The study provides implications for intervention programmes aimed at improving children's well-being to be
inclusive of activities aimed at improving children's self-concept, including the construction of safe spaces for children to
play, learn, and form meaningful relationships
Multicolour correlative imaging using phosphor probes
Correlative light and electron microscopy exploits the advantages of optical methods, such as multicolour probes and their use in hydrated live biological samples, to locate functional units, which are then correlated with structural details that can be revealed by the superior resolution of electron microscopes. One difficulty is locating the area imaged by the electron beam in the much larger optical field of view. Multifunctional probes that can be imaged in both modalities and thus register the two images are required. Phosphor materials give cathodoluminescence (CL) optical emissions under electron excitation. Lanthanum phosphate containing thulium or terbium or europium emits narrow bands in the blue, green and red regions of the CL spectrum; they may be synthesised with very uniform-sized crystals in the 10- to 50-nm range. Such crystals can be imaged by CL in the electron microscope, at resolutions limited by the particle size, and with colour discrimination to identify different probes. These materials also give emissions in the optical microscope, by
multiphoton excitation. They have been deposited on the surface of glioblastoma cells and imaged by CL. Gadolinium oxysulphide doped with terbium emits green photons by either ultraviolet or electron excitation. Sixty-nanometre crystals of this phosphor have been imaged in the atmospheric scanning electron microscope (JEOL ClairScope). This probe and microscope combination allow correlative imaging in hydrated samples. Phosphor probes should prove to be very useful in correlative light and electron microscopy, as fiducial
markers to assist in image registration, and in high/super resolution imaging studies
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