Four New Patients With Gomez-Lopez-Hernandez Syndrome and Proposed Diagnostic Criteria.
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Filed under: Rehab Centers
Am J Med Genet A. 2013 Jan 4;
Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto-occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis, fusion of the cerebellar hemispheres, and the dentate nuclei. The gene or genes responsible for GLHS remain unknown. Alopecia is seen in all previously reported cases of GLHS. Additional craniofacial findings such as low-set and posteriorly rotated ears, midface retrusion, craniosynostosis, and brachyturricephaly are also very common in this syndrome. Trigeminal anesthesia, reported in the original three patients, is seen in just over half of reported patients. Most patients with GLHS have motor delays, intellectual disability, and hypotonia. Unusual stereotypic movements of the head are seen in many patients with GLHS. Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. We propose that rhombencephalosynapsis and scalp alopecia are necessary, but by themselves not sufficient, for a diagnosis of GLHS. Additional findings of trigeminal anesthesia or one of two major craniofacial findings (brachycephaly and/or turricephaly or midface retrusion) are sufficient to make a diagnosis of GLHS. Additional categories of probable and possible GLHS are proposed for patients whose examination may be compatible with a diagnosis of GLHS, but CNS imaging has not yet been obtained. © 2013 Wiley Periodicals, Inc.
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Bioactive 3D cell culture system minimizes cellular stress and maintains the in vivo-like morphological complexity of astroglial cells.
Filed under: Rehab Centers
Glia. 2013 Jan 7;
Puschmann TB, Zandén C, De Pablo Y, Kirchhoff F, Pekna M, Liu J, Pekny M
We tested the hypothesis that astrocytes grown in a suitable three-dimensional (3D) cell culture system exhibit morphological and biochemical features of in vivo astrocytes that are otherwise lost upon transfer from the in vivo to a two-dimensional (2D) culture environment. First, we report development of a novel bioactively coated nanofiber-based 3D culture system (Bioactive3D) that supports cultures of primary mouse astrocytes. Second, we show that Bioactive3D culture system maintains the in vivo-like morphological complexity of cultured cells, allows movement of astrocyte filopodia in a way that resembles the in vivo situation, and also minimizes the cellular stress, an inherent feature of standard 2D cell culture systems. Third, we demonstrate that the expression of gap junctions is reduced in astrocytes cultured in a 3D system that supports well-organized cell-cell communication, in contrast to the enforced planar tiling of cells in a standard 2D system. Finally, we show that astrocytes cultured in the Bioactive3D system do not show the undesired baseline activation but are fully responsive to activation-inducing stimuli. Thus, astrocytes cultured in the Bioactive3D appear to more closely resemble astrocytes in vivo and represent a superior in vitro system for assessing (patho)physiological and pharmacological responses of these cells and potentially also in co-cultures of astrocytes and other cell types. © 2013 Wiley Periodicals, Inc.
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A feasibility study assessing cortical plasticity in chronic neuropathic pain following burn injury.
Filed under: Rehab Centers
J Burn Care Res. 2013 Jan; 34(1): e48-52
Portilla AS, Bravo GL, Miraval FK, Villamar MF, Schneider JC, Ryan CM, Fregni F
The aim of this article is to evaluate the neuroplastic changes associated with chronic neuropathic pain following burn injury and modulation feasibility using transcranial direct current stimulation (tDCS). This is a crossover, double-blinded case series involving three patients with chronic neuropathic pain following burn injury. Participants were randomly assigned to undergo single sessions of both sham and active anodal tDCS over the primary motor cortex, contralateral to the most painful site. Excitability of the motor cortex was assessed before and after each stimulation session with the use of transcranial magnetic stimulation. An overall decrease in cortical excitability was seen after active tDCS only, as characterized by a decrease in intracortical facilitation and amplitude of motor evoked potentials and an increase in intracortical inhibition. Clinical outcomes did not change after a single session of tDCS. Results are consistent with previous studies showing that patients with chronic neuropathic pain have defective intracortical inhibition. This case series shows early evidence that chronic pain following burn injury may share similar central neural mechanisms, which could be modulated using tDCS.
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Repeat hospitalization and mortality in older adult burn patients.
Filed under: Rehab Centers
J Burn Care Res. 2013 Jan; 34(1): e36-41
Mandell SP, Pham T, Klein MB
The aim of this study was to examine 2-year postdischarge outcomes-including hospital readmissions, complications, and mortality-for a cohort of older adults with burn injury. In a statewide hospital discharge database, we identified all patients ? 45 years of age admitted for acute burn injury from 1996 to 2005 and followed each patient for any hospital admissions 2 years following discharge. We then linked the state database to the National Death Index to identify patients who died within the 2-year period. Kaplan-Meier survival functions estimated proportion of patients who died or were readmitted. Logistic regression was used to estimate mortality risk at 2 years for each age group. A total of 2573 patients were admitted with burn injuries, and 2388 (93%) survived to discharge. Of all index patients, 1077 (45%) had at least one rehospitalization, with those in the older age groups having more rehospitalizations. Of patients rehospitalized within 30 days, 25% were admitted for wound coverage or burn infection, 14% for rehabilitation, 10% for sepsis, and 9% for psychiatric reasons. Compared to those discharged home, more patients discharged to nursing facilities had ?1 rehospitalization (71.5 vs 31.5%, P < .001). Survival progressively decreased by age category throughout the follow-up period. Compared with patients aged 45 to 54 years, the older age groups had increased mortality risk at 2 years: odds ratio (OR) 1.53 (95% confidence interval, 1.22-1.88) for the 55 to 64 years group, OR 2.51 (95% confidence interval, 2.03-3.09) for the 65 to 74 years group, and OR 2.90 (95% confidence interval, 2.36-3.55) for the ?75 years group. This population-based study indicates that older patients have a high likelihood of rehospitalization and increased long-term mortality. HubMed – rehab
Survey of care and evaluation of East african burn unit feasibility: an academic burn center exchange.
Filed under: Rehab Centers
J Burn Care Res. 2013 Jan; 34(1): 78-81
Mitchell KB, Giiti G, Gallagher JJ
Weill Cornell Medical College in New York, partnered with Weill Bugando Medical College and Sekou Toure Regional Referral Hospital, in Mwanza, Tanzania, to consider the development of a burn unit there. This institutional partnership provided a unique opportunity to promote sustainable academic exchange and build burn care capacity in the East African region. A Weill Cornell burn surgeon and burn fellow collaborated with the Sekou Toure department of surgery to assess its current burn care capabilities and potential for burn unit development. All aspects of interdisciplinary burn care were reviewed and institutional infrastructure evaluated. Sekou Toure is a 375-bed regional referral center and teaching hospital of Weill Bugando Medical College. In 2010-2011, it admitted 5244 pediatric patients in total; 100 of these patients were burn-injured children (2% of admissions). There was no specific data kept on percentage of body surface burned, degree of burn, length of stay, or complications. No adult, operative, or outpatient burn data were available. There are two operating theaters. Patient’s families perform wound care with nursing supervision. Rehabilitation therapists consult as needed. Meals are provided three times daily by a central kitchen. Public health outreach is possible through village-based communication networks. Infrastructure to support the development of a burn care unit exists at Sekou Toure, but needs increased clinical focus, human resource capacity building, and record-keeping to track accurate patient numbers. A multidisciplinary center could improve record-keeping and outcomes, encourage referrals, and facilitate outreach through villages.
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