Retinal axonal degeneration in Niemann–Pick type C disease

Objective Niemann–Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC. Methods Fourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data. Results Macular retinal nerve fiber layer and volumes of combined ganglion cell and inner plexiform layer were significantly lower in NPC1-P compared to HC [mRNFL (µm):0.13 ± 0.01 vs. 0.14 ± 0.02; p = 0.01; GCIPL (mm3):0.60 ± 0.05 vs. 0.62 ± 0.04; p = 0.04]. No significant differences were found in NPC1-MC in comparison to HC. In NPC1-P, the amplitude of upward vertical saccades showed positive associations with peripapillary RNFL (ρ = 0.645; p < 0.05), and thinned GCIP (ρ = 0.609; p < 0.05), but not in NPC1-MC. In NPC1-P correlations between combined outer plexiform layer and outer nuclear layer (OPONL) with mDRS (r = − 0.617; p < 0.05) and GCIP with SARA (r = − 0.622; p < 0.05) were observed. Furthermore, in NPC1-MC, motor scores were negatively associated with pRNFL (ρ = − 0.677; p < 0.01). Conclusions Using OCT, we showed retinal degeneration in NPC1-P and significant correlation between retinal neuroaxonal degeneration with clinical measurements. We observed a non-significant trend of retinal degeneration in NPC1-MC correlating with subclinical motor abnormalities. Based on these preliminary data, OCT may be an important marker of neurodegeneration in NPC1-disease after onset of clinical symptoms

American palm ethnomedicine: A meta-analysis

<p>Abstract</p> <p>Background</p> <p>Many recent papers have documented the phytochemical and pharmacological bases for the use of palms (<it>Arecaceae</it>) in ethnomedicine. Early publications were based almost entirely on interviews that solicited local knowledge. More recently, ethnobotanically guided searches for new medicinal plants have proven more successful than random sampling for identifying plants that contain biodynamic ingredients. However, limited laboratory time and the high cost of clinical trials make it difficult to test all potential medicinal plants in the search for new drug candidates. The purpose of this study was to summarize and analyze previous studies on the medicinal uses of American palms in order to narrow down the search for new palm-derived medicines.</p> <p>Methods</p> <p>Relevant literature was surveyed and data was extracted and organized into medicinal use categories. We focused on more recent literature than that considered in a review published 25 years ago. We included phytochemical and pharmacological research that explored the importance of American palms in ethnomedicine.</p> <p>Results</p> <p>Of 730 species of American palms, we found evidence that 106 species had known medicinal uses, ranging from treatments for diabetes and leishmaniasis to prostatic hyperplasia. Thus, the number of American palm species with known uses had increased from 48 to 106 over the last quarter of a century. Furthermore, the pharmacological bases for many of the effects are now understood.</p> <p>Conclusions</p> <p>Palms are important in American ethnomedicine. Some, like <it>Serenoa repens </it>and <it>Roystonea regia</it>, are the sources of drugs that have been approved for medicinal uses. In contrast, recent ethnopharmacological studies suggested that many of the reported uses of several other palms do not appear to have a strong physiological basis. This study has provided a useful assessment of the ethnobotanical and pharmacological data available on palms.</p

Disfunção da trompa de Eustáquio em pacientes com apneia do sono e melhora proporcionada pela terapia com pressão positiva contínua nas vias aéreas

Introduction: Upper airway resistance may accompany eustachian dysfunction and alter middle ear pressure in patients with obstructive sleep apnea syndrome. Objective: To investigate effects of obstructive sleep apnea syndrome and continuous positive airway pressure treatment on eustachian tube functions. Methods: Forty-two mild obstructive sleep apnea syndrome patients, 45 moderate obstructive sleep apnea syndrome patients, 47 severe obstructive sleep apnea syndrome patients with continuous positive airway pressure therapy, 32 severe obstructive sleep apnea syndrome patients without continuous positive airway pressure therapy, and 88 individuals without sleep apnea (controls) were included. Tympanometric parameters of groups were compared. Results: Right middle ear pressures in mild and moderate obstructive sleep apnea syndrome groups did not differ significantly from that of control group (p = 0.93 and p = 0.55), as was also true of the left middle ear pressures (p = 0.94 and p = 0.86). Right middle ear pressure was significantly higher in severe obstructive sleep apnea syndrome groups than in the control group, as was the left middle ear pressure (p < 0.001). Middle ear pressure (negative) was significantly lower in severe obstructive sleep apnea syndrome patients with continuous positive airway pressure therapy compared to those without (p < 0.001). Right ear type B and C tympanogram frequencies were significantly higher in patients with severe obstructive sleep apnea syndrome without continuous positive airway pressure therapy (12.4%) than in the controls (0%) (p = 0.02). Left ear type B or C tympanogram frequencies were significantly higher in patients with severe obstructive sleep apnea syndrome without continuous positive airway pressure therapy (21.9%) than in the controls (0%) (p = 0.002). Conclusion: Mild and moderate obstructive sleep apnea syndrome did not affect middle ear pressure but severe obstructive sleep apnea syndrome may increase the (negative) middle ear pressure. In severe obstructive sleep apnea syndrome patients, long-term continuous positive airway pressure therapy may normalize middle ear pressure. © 2020 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facia

Score-based diagnostic approach to celiac disease and bone mineral density

PubMedID: 31486579Background: The aim of this study was to assess the performance of a score-based diagnostic approach (SBDA) proposed in the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 guideline, and the usefulness of bone mineral density (BMD) measurement in SBDA as an objective finding in the diagnosis of celiac disease (CD). Methods: The SBDA scores of 153 biopsy-proven celiac diagnosed children (derived from symptomatology, serology, human leukocyte antigen [HLA] analysis, histology) were calculated. Additionally, BMD Z scores obtained at diagnosis were also investigated. The diagnostic sensitivity of SBDA was tested in different scenarios in which low BMD was scored as a diagnostic finding. Results: The mean age of children was 9.48 ± 3.59 years and 54.2% were female. All patients scored ?4, which is the minimum score to diagnose CD in SBDA. Mean BMD Z score in 142 of 153 patients was -2.70 ± 1.16, and 73.9% of them were below -2. Moreover, different diagnostic scenarios without histology were tested. In one of them, BMD and HLA were not included and the sensitivity was 85.2%. In another one, low BMD was scored as an equivalent of malabsorption, HLA was not included and sensitivity was 97.2%. The sensitivities of these scenarios were significantly different (P = 0.001). Conclusion: In the absence of both HLA and histology, accepting low BMD as an equivalent of malabsorption drastically increased the diagnostic sensitivity, while SBDA had limited success. Therefore, BMD might be useful when HLA and biopsy are not available. © 2019 Japan Pediatric SocietyTF.13.08Some of the data produced in a project funded by University of Gaziantep Scientific Research Project Centre (project number TF.13.08) were used in this study. This was a non-profit source of funding

The novel indicators of moderate to severe sleep apnea: fibrinogen to albumin ratio vs. CRP to albumin ratio

Purpose: This study aimed at investigating the association of severity of obstructive sleep apnea with the markers of inflammation as fibrinogen to albumin ratio and C-reactive protein to albumin ratio. Methods: We included 126 patients admitted to sleep disorders outpatient clinic. We constituted four groups by reference to the apnea–hypopnea index (mild-moderate-severe sleep apnea and control group). We investigated the difference of white blood cell, fibrinogen to albumin ratio, C-reactive protein to albumin ratio, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio, and hemoglobin among the groups. Results: Neutrophil to lymphocyte ratio, platelet to lymphocyte ratio, and hemoglobin did not significantly differ among four groups (p = 0.39, p = 0.06, and p = 0.31, respectively). A significant difference of fibrinogen to albumin ratio and C-reactive protein to albumin ratio was evident among four groups (p < 0.001). Fibrinogen to albumin ratio and C-reactive protein to albumin ratio did not significantly differ between the mild sleep apnea and control groups (p = 0.65, and p = 0.85, respectively), but were significantly greater in moderate sleep apnea group compared with the control group (p < 0.001 and p = 0.001, respectively). Also, fibrinogen to albumin ratio and C-reactive protein to albumin ratio were significantly greater in the severe sleep apnea group compared with the control group (p < 0.001). Fibrinogen to albumin ratio and C-reactive protein to albumin ratio did not significantly differ between the severe sleep apnea and moderate sleep apnea groups (p = 0.49, and p = 0.58, respectively). Conclusion: Higher fibrinogen to albumin ratio and C-reactive protein to albumin ratio may be predictive of inflammation in patients with moderate-to-severe sleep apnea. © 2020, Springer-Verlag GmbH Germany, part of Springer Nature