Pantothenate kinase‐associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations in the PANK2 gene. Phenotypic and ...genotypic characteristics of 11 patients from five Mexican families with PKAN disease are reported. Sequencing of PANK2 confirmed the diagnosis. The 11 patients had dysarthria associated with dystonia and Parkinsonism in six. Brain magnetic resonance imaging (MRI) showed the ‘eye‐of‐the‐tiger’ sign in all patients. Three different mutations were identified, a novel one (p.A469P) and two (p.G219V and p.N404I) very rare. Homozygous sibs for the p.G219V mutation had a severe disease progression with early death. Dystonia predominated in the p.A469P/p.N404I compound heterozygous patients. Homozygous for p.N404I showed Parkinsonism, tics and personality and speech disorders. Early and late disease onset and variable expression was present in carriers of the different identified mutations. The ‘eye‐of‐the‐tiger’ is an excellent neuroimaging hallmark to predict PANK2 mutations. We detected a ‘cluster’ of patients harboring the p.N404I mutation, strongly suggesting a founder effect for this mutation. This is the first familial clinical‐genetic PKAN disease study accomplished in Mexico.
We report ATP1A3-associated rapid-onset dystonia-parkinsonism with an atypical presentation including myoclonus and exaggerated startle in four patients. Their prominence over parkinsonism prompted ...consideration of a syndromic diagnosis of myoclonus dystonia. ATP1α3 dysfunction in GABAergic neurons could explain these examination findings. The spectrum of ATP1A3-associated movement disorders includes myoclonus-dystonia.
Underweight and malnutrition are well documented in Parkinson's disease (PD), while overweight has been less reported. We carried out a cross-sectional study including 177 healthy controls and 177 PD ...patients attending a tertiary care center. We recorded weight and height for all participants. A statistically significant difference was found in body mass index (BMI) between controls and PD patients (29.1±5.4 versus 27.2±4.7, p<0.001). In the PD Group, two patients were underweight, 32.7% were within normal range, 46.9% had overweight, and 19.2% were obese. Overweight and normal weight were more prevalent in the PD Group (p=<0.01 and <0.001, respectively) when compared to controls. In conclusion, overweight/obesity are common among patients with PD, while underweight is almost negligible.
This work was carried out to determine the distribution of shallow bottom corals at the archipelago of La Orchila (Venezuelan Caribbean) using geomathic tools, through the analysis of multispectral ...images (SPOT 5) and using spatial navigation tracks. Thirty one coral zones were detected and validated by field work. In each of these areas, the marine bottoms were described and associated with in situ trial polygons in order to obtain their spectral signatures. Data were processed by specialized software in GIS and multicriteria analysis. The results showed spatial differences at the leeward zone, determined by the presence of corals of the genera Acropora, Porites, Millepora, Montastraea and Diploria, as well as species of Zoantharia (Palythoa), Octocorallia, seagrass (Thalassia), green algae (Halimeda), brown algae (Phaeophyceae), dead corals and sandy bottoms. Also, the spectral signatures of dead coral areas, sponges and calcareous algae and brown algae were determined (precisions of 100, 95.45 and 89.7% respectively). The remaining signatures were not determinant (<50% accuracy). It is concluded that the bottom at the archipielago of La Orchila consists mainly of dead coral with different levels of re-colonization.
Abstract
Young exoplanets can offer insight into the evolution of planetary atmospheres, compositions, and architectures. We present the discovery of the young planetary system TOI 451 (TIC ...257605131, Gaia DR2 4844691297067063424). TOI 451 is a member of the 120 Myr old Pisces–Eridanus stream (Psc–Eri). We confirm membership in the stream with its kinematics, its lithium abundance, and the rotation and UV excesses of both TOI 451 and its wide-binary companion, TOI 451 B (itself likely an M-dwarf binary). We identified three candidate planets transiting in the Transiting Exoplanet Survey Satellite data and followed up the signals with photometry from Spitzer and ground-based telescopes. The system comprises three validated planets at periods of 1.9, 9.2, and 16 days, with radii of 1.9, 3.1, and 4.1
R
⨂
, respectively. The host star is near-solar mass with
V
= 11.0 and
H
= 9.3 and displays an infrared excess indicative of a debris disk. The planets offer excellent prospects for transmission spectroscopy with the Hubble Space Telescope and the James Webb Space Telescope, providing the opportunity to study planetary atmospheres that may still be in the process of evolving.
Emergency General Surgery (EGS) conditions account for millions of deaths worldwide, yet it is practiced without benchmarking-based quality improvement programs. The aim of this observational, ...prospective, multicenter, nationwide study was to determine the best benchmark cutoff points in EGS, as a reference to guide improvement measures.
Over a 6-month period, 38 centers (5% of all public hospitals) attending EGS patients on a 24-h, 7-days a week basis, enrolled consecutive patients requiring an emergent/urgent surgical procedure. Patients were stratified into cohorts of low (i.e., expected morbidity risk <33%), middle and high risk using the novel m-LUCENTUM calculator.
A total of 7258 patients were included; age (mean ± SD) was 51.1 ± 21.5 years, 43.2% were female. Benchmark cutoffs in the low-risk cohort (5639 patients, 77.7% of total) were: use of laparoscopy ≥40.9%, length of hospital stays ≤3 days, any complication within 30 days ≤ 17.7%, and 30-day mortality ≤1.1%. The variables with the greatest impact were septicemia on length of hospital stay (21 days; adjusted beta coefficient 16.8; 95% CI: 15.3 to 18.3; P < .001), and respiratory failure on mortality (risk-adjusted population attributable fraction 44.6%, 95% CI 29.6 to 59.6, P < .001). Use of laparoscopy (odds ratio 0.764, 95% CI 0.678 to 0.861; P < .001), and intraoperative blood loss (101–500 mL: odds ratio 2.699, 95% CI 2.152 to 3.380; P < .001; and 500–1000 mL: odds ratio 2.875, 95% CI 1.403 to 5.858; P = .013) were associated with increased morbidity.
This study offers, for the first time, clinically-based benchmark values in EGS and identifies measures for improvement.
•The best benchmark cut-offs in Emergency General Surgery are unknown.•The present study established benchmark cut-off values in a low-risk cohort.•Benchmark cut-off was ≥40.9% for use of laparoscopy, and ≤3 days for hospital stays.•Benchmark cut-off was ≤17.7% for 30-day morbidity, and ≤1.1% for 30-day mortality.•These cut-offs values may guide quality improvement in Emergency General Surgery.
In order to facilitate the preoperative prediction of complicated appendicitis, we propose a complementary approach by selecting an endpoint defined by the intraoperative finding of peritoneal ...soiling (PS).
Over a 6-month period, 38 centers (5% of all public hospitals) attending emergency general surgery patients on a 24-h, 7-days a week basis, enrolled consecutive adult patients requiring appendectomy. Patients were stratified according to the absence or the finding of PS during the surgical procedure.
A total of 2645 patients were included; median age (IQR) was 35 (22–51) years, 44.3% were female. The laparoscopic approach was used in 70.8% of appendectomies. In a third of patients (31.7%), there was PS with pus around the appendix, or bowel contents, free pus, or blood in the peritoneal cavity. To develop the prediction model, 1764 patients were randomly selected for the derivation cohort and the remaining 881 patients were assigned to the validation cohort. On multivariable logistic regression analysis of all patients, two clinical variables (age, and pulse) and three laboratory variables (serum urea, serum sodium, and white blood cell count) were individually associated (P < .05) with a greater probability of having PS (Hosmer-Lemeshow chi, 1.63; P = .99; C-statistic, 0.7). Based on the multivariable regression model, both static and dynamic nomograms were developed for the prediction of PS in patients with acute appendicitis.
The entry of simple clinical and laboratory variables in the dynamic nomogram may be useful in guiding the initial management of patients with acute appendicitis in resource-limited settings.
•Mortality from complicated appendicitis still high in underserved areas of the world.•The study offers a dynamic nomogram to predict peritoneal soiling in appendicitis.•The nomogram employs simple, readily available clinical and laboratory data.•Age, pulse rate, serum urea, serum sodium, and white cell count are required.•Prediction of complicated appendicitis made feasible in resource-limited settings.
108-1 Allard, Olivier; Baratta, María Victoria; Begel, Johann ...
Journal de la Société des américanistes,
09/2022, Letnik:
108, Številka:
1
Journal Article
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The world population is aging, with octogenarians expected to reach over 400 million by 2050. Acute cholecystitis is a serious complication in the elderly. Age is not a ...contraindication for emergency cholecystectomy, an option that can both save lives and preserve quality of life.
The present study aimed to compare open and laparoscopic surgical approaches. Over six months, 38 emergency surgery units enrolled all consecutive octogenarians with acute cholecystitis undergoing cholecystectomy. Postoperative outcomes were compared after propensity score matching analysis.
The study included 212 patients (84 years 81–86, 47.2% women). The open approach was used in 32.1% of patients, and the laparoscopic approach in 67.9%. After propensity score matching, a decrease in hospital stays (open, 8 days 6–13; laparoscopic, 5 days 4–8; P < .001), 30-day morbidity (open, 48.5%; laparoscopic, 26.5%; P = .01), and 30-day mortality (open, 13.2%, laparoscopic, 1.5%; P = .02) was found. Among the specific postoperative complications, a decrease in septicemia (open, 14.7%; laparoscopic, 0%; P = .001) was observed.
Laparoscopic approach was used in two out of three octogenarians. After propensity score matching, octogenarians undergoing laparoscopic approach had shorter length of hospital stay, fewer 30-day postoperative complications, fewer episodes of septicemia, and less 30-day mortality than octogenarians undergoing open approach. These findings suggest that the laparoscopic approach may be the preferred choice for octogenarians with acute cholecystitis undergoing cholecystectomy.
La población mundial está envejeciendo; se espera que los octogenarios alcancen más de 400 millones en 2050. La colecistitis aguda es una complicación grave en ancianos. La edad no es contraindicación para la colecistectomía de urgencia, una opción que puede salvar vidas y preservar calidad de vida.
El presente estudio tuvo como objetivo comparar los abordajes quirúrgicos abierto y laparoscópico. Durante seis meses, 38 unidades de cirugía de urgencia incluyeron octogenarios consecutivos con colecistitis aguda intervenidos de colecistectomía. Los resultados posoperatorios se compararon después de análisis de emparejamiento por puntuación de propensión.
Se incluyeron 212 pacientes (84 años rango inter-cuartil, 81-86, 47,2% mujeres). El abordaje abierto se utilizó en 32,1% de pacientes y el abordaje laparoscópico en 67,9%. Después de emparejamiento por puntuación de propensión, se observó disminución en estancias hospitalarias (abierto, 8 días 6-13; laparoscópico, 5 días 4-8; p < 0,001), morbilidad a 30 días (abierto, 48,5%; laparoscópico, 26,5 %; p = 0,01), y mortalidad a 30 días (abierto, 13,2%, laparoscópico, 1,5%; p = 0,02). Asimismo, se observó disminución de septicemia (abierto, 14,7%; laparoscópico, 0%; p = 0,001).
El abordaje laparoscópico se utilizó en dos de cada tres octogenarios. Después de emparejamiento por puntuación de propensión, los intervenidos mediante abordaje laparoscópico tuvieron estancia hospitalaria más corta, menos complicaciones posoperatorias a 30 días, menos episodios de septicemia y menos mortalidad a 30 días que los octogenarios intervenidos mediante abordaje abierto. Estos hallazgos sugieren que el abordaje laparoscópico puede ser la opción preferida para octogenarios con colecistitis aguda que se intervienen de colecistectomía.