Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency

We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), who presented with an early-onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia and drug-resistant epilepsy with neurodevelopmental delay. Throughout her clinical history, recurrent episodes of lethargy, feeding difficulties, and clustering seizures occurred, progressing into a super refractory SE and death at the age of 25 years. Although epilepsy is not a distinctive feature of MCADD, we advise considering this metabolic disease as a possible etiology of epileptic encephalopathy and hemiconvulsion-hemiplegia-epilepsy syndrome of unknown origin, on the chance to provide a timely and targeted treatment preventing development delay and evolution to SE. Adult patients with epilepsy of unknown etiology not screened at birth for inborn errors of metabolism, such as MCADD, should be promptly investigated for these treatable conditions

A novel application of capnography during controlled human exposure to air pollution

BACKGROUND: The objective was to determine the repeatability and stability of capnography interfaced with human exposure facility. METHODS: Capnographic wave signals were obtained from five healthy volunteers exposed to particle-free, filtered air during two consecutive 5 min intervals, 10 min apart, within the open and then the sealed and operational human exposure facility (HEF). Using a customized setup comprised of the Oridion Microcap(® )portable capnograph, DA converter and AD card, the signal was acquired and saved as an ASCII file for subsequent processing. The minute ventilation (VE), respiratory rate (RR) and expiratory tidal volume (V(TE)) were recorded before and after capnographic recording and then averaged. Each capnographic tracing was analyzed for acceptable waves. From each recorded interval, 8 to 19 acceptable waves were selected and measured. The following wave parameters were obtained: total length and length of phase II and III, slope of phase II and III, area under the curve and area under phase III. In addition, we recorded signal measures including the mean, standard deviation, mode, minimum, maximum – which equals end-tidal CO(2 )(EtCO(2)), zero-corrected maximum and true RMS. RESULTS: Statistical analysis using a paired t-test for means showed no statistically significant changes of any wave parameters and wave signal measures, corrected for RR and V(TE), comparing the measures when the HEF was open vs. sealed and operational. The coefficients of variation of the zero-corrected and uncorrected EtCO(2), phase II absolute difference, signal mean, standard deviation and RMS were less than 10% despite a sub-atmospheric barometric pressure, and slightly higher temperature and relative humidity within the HEF when operational. CONCLUSION: We showed that a customized setup for the acquisition and processing of the capnographic wave signal, interfaced with HEF was stable and repeatable. Thus, we expect that analysis of capnographic waves in controlled human air pollution exposure studies is a feasible tool for characterization of cardio-pulmonary effects of such exposures

Délégation des tâches médico-administratives : perspectives croisées entre médecins assistants et secrétaires [Delegation of medico-administrative tasks : what do medical interns and secretaries think?]

The hospital activity of physicians in training mainly consists in direct contacts with patients, tasks indirectly linked to patients such as administration, as well as clinical and theoretical training. In our era of digitalization, an important administrative work load without any added medical value fills their daily chores. In parallel activities of medical secretaries are getting more partitioned, with their desks situated far from physicians' and tasks often limited to finalizing discharge letters. Added to multiple overtime, this reduces physicians' and secretaries' work satisfaction. This article describes the context and development of delegating medico-administrative tasks to secretaries in our department of internal medicine

Analisi delle tendenze di lungo termine nel regime degli afflussi meteorici e dei deflussi dell’Adda a Lecco (1845-2014) = Long term rainfall and runoff trends of the Adda river in Lecco (1845-2014)

La consultazione di dati di archivio, poco conosciuti, relativi all\u2019idrometro del Fortilizio di Lecco ha permesso la ricostruzione dei livelli idrometrici e dei deflussi giornalieri dall\u2019incile del Lago di Como dal 1845 al 2014. Analogamente sono stati stimati gli afflussi meteorici mensili nel medesimo periodo rendendo quindi possibile un confronto tra le tendenze climatiche di lungo termine che mostrano, applicando i test statistici di Mann-Kendall, Spearman e Theil-Sen, una diminuzione degli afflussi meteorici e, in misura pi\uf9 marcata, dei deflussi. La disponibilit\ue0 di una delle serie idrometriche e meteorologiche tra le pi\uf9 lunghe disponibili per i bacini italiani permetter\ue0 una analisi delle possibili cause di natura climatica e/o antropica delle variazioni del regime dei deflussi.A recovery of ancient records of the Como Lake water levels at the Fortilizio in Lecco hydrometric station enabled the reconstruction of a time series of daily water level and runoff from the Como Lake spanning the 1845-2014 period. In parallel, the monthly areal precipitation within the Adda river catchment was estimated for the same 170 years-long period. A comparison of the two series applying the Mann-Kendall, Spearman and Theil-Sen trend tests, shows a decline, in the long term, of precipitation and, especially, of runoff. The presented time series, which is one of the longest available for Italian riverbasins, will support analyses of climatic/anthropogenic reasons of changes in the runoff regime

Le groupe « Osler » : une nouvelle opportunité pour réfléchir sur le « devenir médecin » [The « Osler » group : a new opportunity to think about « becoming a physician »]

Issues of professionalism and professional identity formation, particularly amongst young doctors, have been the object of increasing attention. This is explained in part by the evolution of the hospital environment (specialization, shorter stays), as well as by the prevalence of physician burnout and suicide. In this context, the CHUV implemented a pilot project within the department of internal medicine aiming to support its residents in the construction of their professional identity. The Osler group convened 10 residents led by an attending physician and a senior resident from the internal medicine department as well as an attending physician of the liaison psychiatry department. The experience has been a success, with residents describing clear benefits of the group

Variability of physical attributes in tropical weathered soil cultivated with irrigated beans (Phaseolus vulgaris L.)

Soil physical attributes are affected by several events. The ability to identify the variation of those attributes can be used to decide the best crop management. Although it is known that smaller grids are more representative, predicting the least number of points while maintaining accuracy is a tool that might reflect a gain in yield and time. The aims of this study were to evaluate the spatial physical variability and to define the minimum sampling density in a tropical Typic Haplustults soil using a scaled semivariogram in a central pivot area with pinto bean (Phaseolus vulgaris L.) after the eighth bean harvest in Cristalina, Goias State. Soil samples were collected at a regular grid of 10-m intervals, totaling 180 points, and at depths of 0.00-0.10 m, 0.10-0.20 m, and 0.20-0.30 m to determine total sand content (TS), silt (SIL), clay (CL), water-dispersed clay (WDC), mean weight diameter of soil aggregates (MWD), soil penetration resistance (PR), soil macroporosity (Ma), soil microporosity (Mi), and soil bulk density (BD). The results demonstrated that management promoted superficial soil compaction with increasing BD and Mi and decreasing Ma and TP. The scaled semivariogram demonstrated similarity between attributes in the three studied soil layers, evidencing strong spatial dependency. The sample density showed a strong influence of WDC in the irrigated soil properties. Adoption of a scaled semivariogram is a strategy that can be used to determine a minimum number of points that represents the spatial variability of soil physical attributes and to assist the best management in irrigated soils135656661CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQsem informaçã