1.Clinical characteristics and therapy of 10 Nocardia infection cases
Yuchao XIA ; Xuan YANG ; Lifang BAN ; Liucun SONG ; Dongmei RAN
Chinese Journal of Infection Control 2017;16(5):453-457
Objective To analyze the clinical characteristics and therapy of Nocardia infection, and provide reference for clinical practice.Methods Patients with positive specimen culture of Nocardia from May 2014 to June 2016 were surveyed retrospectively, the body status, clinical features, therapeutic regimen, and prognosis were analyzed.Results A total of 10 cases of Nocardia infection were surveyed, there were 7 males and 3 females;average age was (49.90+13.75) years old.Nocardia infection occurred mostly in population with impaired immune status or underlying diseases, the main infection site was lung, compound sulfamethoxazole was the first choice drug for treatment of infection, amikacin, imipenem/cilastatin and so on were alternative choice according to disease condition, 8 patients all improved after therapy.Conclusion The diagnosis made on the basis of microbiological examination, imaging, and pathological examination, combined with comprehensive judgment according to risk factors of Nocardia infection, patient can be treated timely and rationally, and the prognosis is better.
2.Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
Xinxin BU ; Wenjuan QIU ; Huiwen ZHANG ; Xiaolan GAO ; Xia ZHAN ; Ting CHEN ; Feng XU ; Yuchao LIU ; Xuefan GU ; Lianshu HAN
Chinese Journal of Pediatrics 2022;60(6):522-526
Objective:To investigate the spectrum of amino acid, organic acid, and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry.Methods:From January 2005 to December 2021, clinical data of 2 461 children diagnosed with inherited metabolic diseases (IMD) by gas chromatography-mass spectrometry, in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed.Results:Among 2 461 children, 1 446 were male and 1 051 were female. A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency).Conclusion:Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry, the most common are organic acidemias, followed by amino acid disorders and fatty acid oxidation defects.