Displasia Ectodérmica Anhidrótica

El presente trabajo tiene por finalidad difundir el caso clínico de una displasia ectodérmica anhidrótica con importantes manifestaciones bucales. Esta enfermedad se caracteriza por la ausencia o la disminución del pelo, dientes, uñas, glándulas sudoríparas y sebáceas, anomalías de la nariz, pabellones auriculares, labios y sistema dentario, signos que acompañan a trastornos del sistema nervioso central.La displasia ectodérmica anhidrótica, se trata de un síndrome heredo familiar, transmitido como un rasgo recesivo ligado al cromosoma X, que afecta en el 90% de los casos a los varones. El resto corresponde a mujeres portadoras que presentan sintomatología escasa.El reconocimiento de las manifestaciones clínicas generales y bucales nos permitirá instituir una conducta terapéutica adecuada

Global overview of the management of acute cholecystitis during the COVID-19 pandemic (CHOLECOVID study)

Background: This study provides a global overview of the management of patients with acute cholecystitis during the initial phase of the COVID-19 pandemic. Methods: CHOLECOVID is an international, multicentre, observational comparative study of patients admitted to hospital with acute cholecystitis during the COVID-19 pandemic. Data on management were collected for a 2-month study interval coincident with the WHO declaration of the SARS-CoV-2 pandemic and compared with an equivalent pre-pandemic time interval. Mediation analysis examined the influence of SARS-COV-2 infection on 30-day mortality. Results: This study collected data on 9783 patients with acute cholecystitis admitted to 247 hospitals across the world. The pandemic was associated with reduced availability of surgical workforce and operating facilities globally, a significant shift to worse severity of disease, and increased use of conservative management. There was a reduction (both absolute and proportionate) in the number of patients undergoing cholecystectomy from 3095 patients (56.2 per cent) pre-pandemic to 1998 patients (46.2 per cent) during the pandemic but there was no difference in 30-day all-cause mortality after cholecystectomy comparing the pre-pandemic interval with the pandemic (13 patients (0.4 per cent) pre-pandemic to 13 patients (0.6 per cent) pandemic; P = 0.355). In mediation analysis, an admission with acute cholecystitis during the pandemic was associated with a non-significant increased risk of death (OR 1.29, 95 per cent c.i. 0.93 to 1.79, P = 0.121). Conclusion: CHOLECOVID provides a unique overview of the treatment of patients with cholecystitis across the globe during the first months of the SARS-CoV-2 pandemic. The study highlights the need for system resilience in retention of elective surgical activity. Cholecystectomy was associated with a low risk of mortality and deferral of treatment results in an increase in avoidable morbidity that represents the non-COVID cost of this pandemic

Oxidation of the turbine blade material CMSX4 studied by x-ray diffraction

The high-temperature oxidation behaviour of the turbine blade material CMSX4 was examined by in situ X-ray diffraction in the temperature range between 700 and 1200°C. The intensities of the X-ray reflections of the oxides formed during the oxidation process were calculated and plotted as functions of time. Their curves show the oxidation process. After cooling down an ex situ electron microprobe analysis was carried out to determine the site of the oxidation products within the oxide scale. The results reveal that CMSX4 changes its oxidation behaviour between 900 and 1000°C due to the solution of the γ'-phase. The presentation shows how in situ X-ray diffraction and electron microprobe form a complementary combination.L'oxydation des pales de turbine en CMSX4 à haute température est examinée avec la diffraction in situ des rayons X entre 700 et 1200°C. Les intensités des raies des oxydes sont calculées et tracées en fonction du temps. Après refroidissement, une microanalyse est utilisée pour déterminer les produits d'oxydation dans la couche d'oxyde. Le CMSX4 montre un changement de comportement entre 900 et 1000°C à cause de la dissolution de la phase γ'. Cette présentation démontre que la diffraction des rayons X in situ et la microanalyse X sont deux méthodes complémentaires

Apoptosis and necrosis increase antigenicity of proteins recognized by antinuclear antibodies

Obiettivo. Lo scopo di questo studio è quello di indagare se l’apoptosis e la necrosi aumentano l’antigenicità delle proteine riconosciute da anticorpi antinucleo. Materiale e metodi. Cellule HEp-2 sono state coltivate in condizioni standard; l’apoptosis è stata indotta con camptecina e la necrosi con cloruro di mercurio. L’antigenicità delle proteine estratte dalle cellule è stato testata su membrane di nitrocellulosa e sondata con sieri positivi o negativi per anticorpi antinucleo utilizzando un sistema ELISA a luminescenza (luminescent). Risultati. Le alterazioni apoptotiche nelle cellule HEp-2 sono apparse entro 24 ore dall’esposizione alla camptoicina, mentre i segni di necrosi si sono evidenziati più precocemente. La luminescenza si è dimostrata significativamente superiore nei sieri ANA positivi che nei controlli ANA negativi. Gli antcorpi antinucleari sieirici riconoscono meglio gli antigeni da cellule apoptotiche e necrotiche rispetto ai controlli che non hanno subito trattamenti chimici. Conclusioni. L’apoptosi e la necrosi incrementano la capacità legante degli ANA attraverso una migliore disponibilità di antigeni intracellulari o svelando epitopi criptici

Modulation of gaba release from the thalamic reticular nucleus by cocaine and caffeine: role of serotonin receptors

Serotonin receptors are targets of drug therapies for a variety of neuropsychiatric and neurodegenerative disorders. Cocaine inhibits the re-uptake of serotonin (5-HT), dopamine, and noradrenaline, whereas caffeine blocks adenosine receptors and opens ryanodine receptors in the endoplasmic reticulum. We studied how 5-HT and adenosine affected spontaneous GABAergic transmission from thalamic reticular nucleus. We combined whole-cell patch clamp recordings of miniature inhibitory post-synaptic currents (mIPSCs) in ventrobasal thalamic neurons during local (puff) application of 5-HT in wild type (WT) or knockout mice lacking 5-HT2A receptors (5-HT2A−/−). Inhibition of mIPSCs frequency by low (10 μM) and high (100 μM) 5-HT concentrations was observed in ventrobasal neurons from 5-HT2A−/− mice. In WT mice, only 100 μM 5-HT significantly reduced mIPSCs frequency. In 5-HT2A−/− mice, NAN-190, a specific 5-HT1A antagonist, prevented the 100 μM 5-HT inhibition while blocking H-currents that prolonged inhibition during post-puff periods. The inhibitory effects of 100 μM 5-HT were enhanced in cocaine binge-treated 5-HT2A−/− mice. Caffeine binge treatment did not affect 5-HT-mediated inhibition. Our findings suggest that both 5-HT1A and 5-HT2A receptors are present in pre-synaptic thalamic reticular nucleus terminals. Serotonergic-mediated inhibition of GABA release could underlie aberrant thalamocortical physiology described after repetitive consumption of cocaine. Our findings suggest that both 5-HT1A, 5-HT2A and A1 receptors are present in pre-synaptic TRN terminals. 5-HT1A and A1 receptors would down-regulate adenylate cyclase, whereas 5-HT1A would also increase the probability of the opening of G-protein-activated inwardly rectifying K+ channels (GIRK). Sustained opening of GIRK channels would hyperpolarize pre-synaptic terminals activating H-currents, resulting in less GABA release. 5-HT2A-would activate PLC and IP3, increasing intracellular [Ca2+] and thus facilitating GABA release.Fil: Goitia, Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Farmacológicas (i); ArgentinaFil: Rivero Echeto, Maria Celeste Solange. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Farmacológicas (i); ArgentinaFil: Weisstaub, Noelia V.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Fisiología y Biofísica Bernardo Houssay; ArgentinaFil: Gingrich, Jay A.. Columbia University; Estados UnidosFil: Garcia Rill, Edgar. University Of Arkansas For Medical Sciences; Estados UnidosFil: Bisagno, Veronica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Farmacológicas (i); ArgentinaFil: Urbano Suarez, Francisco Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentin

Dieulafoy lesion: Endoscopic and surgical management

Dieulafoy lesion is characterized by exteriorization of a large pulsatile arterial vessel through a minimal mucosal tear Surrounded by normal mucosa, causing massive and recurrent tipper digestive bleeding in previously healthy patients. More frequently presented than diagnosed, with the increase of its knowledge among endoscopists, a large number of cases are expected in the literature. Data from patients with upper gastrointestinal bleeding Submitted to endoscopy at the Federal University of São Paulo, Gastrointestinal Endoscopy Unit from 199) through 2002 were reviewed for Dieulafoy lesion. We found 15 patients with typical Dieulafoy gastric lesion. Their ages ranged from IS to 78 years (mean age 49.9): 5 patients were female and 10 were male. Bleeding presented as hematemesis and melena in 7 cases (46.6%), hematemesis alone in 4 cases (26.6%), and melena alone in the other 4 cases (26.6%). Initial hemostatic approaches employed were: alcoholization (2 cases), epinephrine associated with alcohol injection (5 cases), sclerosis in 7 cases and surgery in 1 case. Dieulafoy lesion is a distinct nosologic entity that must be Suspected in patients with massive digestive bleeding. Endoscopy became the procedure of choice for diagnosis and treatment of this disease.Universidade Federal de São Paulo, EPM, Dept Surg Gastroenterol, São Paulo, BrazilUniversidade Federal de São Paulo, EPM, Dept Surg Gastroenterol, São Paulo, BrazilWeb of Scienc