Abstract Rationale: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid, amino acid, and choline metabolism. The clinical manifestation of MADD is heterogeneous, from severe neonatal forms to mild late-onset forms. Patient concerns: Here, we report a patient who presented with severe hypoglycemia and exercise intolerance suggestive of MADD. Serum tandem mass spectrometry analysis indicated elevated levels of various acyl carnitines at 25 days of age. Exome sequencing of the proband revealed compound heterozygous mutations, c. 413T>G (p.Leu138Arg) and c.1667C > G (p.Pro556Arg), in the ETFDH gene as the probable causative mutations. Diagnoses: Based on the patient's clinical presentation and test results, the patient was diagnosed with MADD. Interventions: A high-calorie and reduced-fat diet was given together with oral supplements of L-carnitine (150 mg/day). Outcomes: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness. Lessons: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD and may not only prevent the need for invasive testing but also allow for timely initiation of treatment.
The study aims to test the inhibition of 4 kinds of Eupatorium adenophorum organic reagent extracts on 2 kinds of plant pathogenic fungi of Fusarium gramincarum and Colletotrichum glycines Hori by growth rate methods.The result demonstrated that 4 organic reagent extracts had effective effects on the hypha growth of 2 kinds of plant pathogenic fungi and different organic reagent extracts had some kinds of differences against the same plant pathogenic fungi.And the effect decreased with the concentration of the same reagent extract reducing.The inhibition rate of ethanol,acetone and diethyl ether extracts could reach 100% at 100.00 mg/mL.Furthermore,ethanol and acetone extracts still had good inhibition effects at low concentration.Therefore,the ethanol and acetone extracts from E.adenophrum could be considered to develop the new plant source bio-pesticide.
Using S -trifluoromethyl thioesters as bifunctional reagents, we developed photoredox/copper dual-catalyzed 1,2-acyl-trifluoromethylthiolation of alkenes and 1,4-acyl-trifluoromethylthiolation of 1,3-enynes.
The use of distributed application system for aeronautical meteorology service,can meet sufficient various requirements for every users and steady increase in meteorology information data. This system achieves centralized management and information service,according as the kinds and source of weather information. The system not only can keep all kinds of meteorology information and provide flexible services,but also has expansibility,investment and servicing,etc.
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