RESUMO
This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
Assuntos
Hiperlipoproteinemia Tipo I , Hiperlipoproteinemias , Pancreatite , Humanos , Lactente , Masculino , Doença Aguda , Ascite , Colesterol , Hiperlipoproteinemia Tipo I/diagnóstico , Hiperlipoproteinemia Tipo I/genética , Lipase Lipoproteica/genética , TriglicerídeosRESUMO
OBJECTIVE: We evaluate the quality of interventional care for patients undergoing transcatheter aortic valve replacement (TAVR) using a set of quality indicators. METHODS: We developed an initial list of quality indicators by incorporating current guidelines, observing practice discrepancies, and basing it on the Donabedian "structure, process, and outcome" three-dimensional quality evaluation model as the framework. The Delphi method was utilized in two rounds of consultation involving 31 experts to evaluate and revise indicators at all levels. RESULTS: The response rate of expert questionnaires was 100% for both rounds, and the expert authority coefficients were 0.913 and 0.940, respectively. The Kendall harmony coefficients were 0.221 and 0.195, respectively, with P < 0.05. Eventually, a quality evaluation system of interventional care for patients undergoing TAVR was constructed, consisting of three structural indicators, nine process indicators, and 42 outcome indicators. CONCLUSIONS: The quality evaluation system for interventional care of TAVR sought to establish specific, objective, and quantifiable criteria for assessing the quality of care. It is recommended to apply the set of quality indicators across hospitals to enhance the quality of care for TAVR.
Assuntos
Estenose da Valva Aórtica , Substituição da Valva Aórtica Transcateter , Humanos , Fatores de Risco , Estenose da Valva Aórtica/cirurgia , Hospitais , Resultado do Tratamento , Valva Aórtica/cirurgiaRESUMO
Polymerization-driven removal of pollutants in advanced oxidation processes (AOPs) offers a sustainable way for the simultaneous achievement of contamination abatement and resource recovery, supporting a low-carbon water purification approach. However, regulating such a process remains a great challenge due to the insufficient microscopic understanding of electronic structure-dependent reaction mechanisms. Herein, this work probes the origin of catalytic pollutant polymerization using a series of transition metal (Cu, Ni, Co, and Fe) single-atom catalysts and identifies the d-band center of active site as the key driver for polymerization transfer of pollutants. The high-valent metal-oxo species, produced via peroxymonosulfate activation, are found to trigger the pollutant removal via polymerization transfer. Phenoxyl radicals, identified by the innovative spin-trapping and quenching approaches, act as the key intermediate in the polymerization reactions. More importantly, the oxidation capacity of high-valent metal-oxo species can be facilely tuned by regulating their binding strength for peroxymonosulfate through d-band center modulation. A 100% polymerization transfer ratio is achieved by lowering the d-band center. This work presents a paradigm to dynamically modulate the electronic structure of high-valent metal-oxo species and optimize pollutant removal from wastewater via polymerization.
RESUMO
The migratory insertion of metal-hydride into alkene has allowed regioselective access to organometallics, readily participating in subsequent functionalization as one conventional pathway of hydroalkylation, whereas analogous process with feedstock alkyne is drastically less explored. Among few examples, the regioselectivity of metal-hydride insertion is mostly governed by electronic bias of alkynes. To alter the regioselectivity and drastically expand the intermediate pools that we can access, one aspirational design is through alternative nickel-alkyl insertion, providing opposite regioselectivity induced by steric demand. Leveraging in situ formed nickel-alkyl species, we herein report the regio- and enantioselective hydroalkylation of alkynes with broad functional group tolerance, excellent regio- and enantioselectivity, enabling efficient route to diverse valuable chiral allylic amines motifs. Preliminary mechanistic studies indicate the aminoalkyl radical species can participate in metal-capture and lead to formation of nickel-alkyl, of which the migratory insertion is key to reverse regioselectivity observed in metal-hydride insertion.