OBJECTIVE To summarize the clinical data of 2 cases of multiple organ dysfunction syndrome(MODS)induced by infection with renal leptospira so as to provide bases for prevention and control of severe dis-eases.METHODS The clinical data of the 2 patients with leptospirosis were retrospectively analyzed after the super typhoon'Yagi'on Sep.6,2024.The cases of leptospirosis that were reported at home and abroad in recent 5 years were retrieved.The epidemiological characteristics,clinical manifestations and treatment outcomes of the cases were observed.RESULTS The 2 patients began to have symptoms on the nineth day after the typhoon,both cases presented with the manifestation such as fever,pain and fatigue,shortness of breach and cough,jaundice and anu-ria,with the blood culture negative;the definite diagnosis was mased by blood metagenomic capture method(MetaCAP).The poultry was considered as the infection source,and the illness condition progressed to sepsis and MODS.Case 1 was complicated with empsyxis,jaundice hemorrhage and renal failure and finally died.Case 2 was also detected with leptospira from cerebrospinal fluid and was complicated with renal failure and meningoencephal-itis but was cured.Among 17 cases of leptospirosis from the literatures,the male and peasants were dominant,the infected water was the major infection factor(at least 7 cases);fever,pain and fatigue,shortness of breath and cough as well as hemoptysis were the major symptoms.There were at least 12 cases with the decline of plate-lets counts,10 cases complicated with empsyxis,11 cases complicated with shock and MODS and 10 cases treated with invasive mechanical ventilation.The misdiagnosis rate was up to 76.47％,and the mortality rate was 29.41％.CONCLUSIONS The leptospirosis is a severe disease,early precise antimicrobial treatment and timely or-gan function support are the crucial to the improvement of prognosis.The health care workers should attach great importance to inquiry for diagnosis,maintain vigilant to the disease for the people with fever of unknown ori-gin,shortness of breath,pain and fatigue by combining the epidemiological history,and make an early definite di-agnosis based on novel molecular diagnosis technique so as to avoid the progression to sepsis and MODS.

OBJECTIVE To summarize the clinical data of 2 cases of multiple organ dysfunction syndrome(MODS)induced by infection with renal leptospira so as to provide bases for prevention and control of severe dis-eases.METHODS The clinical data of the 2 patients with leptospirosis were retrospectively analyzed after the super typhoon'Yagi'on Sep.6,2024.The cases of leptospirosis that were reported at home and abroad in recent 5 years were retrieved.The epidemiological characteristics,clinical manifestations and treatment outcomes of the cases were observed.RESULTS The 2 patients began to have symptoms on the nineth day after the typhoon,both cases presented with the manifestation such as fever,pain and fatigue,shortness of breach and cough,jaundice and anu-ria,with the blood culture negative;the definite diagnosis was mased by blood metagenomic capture method(MetaCAP).The poultry was considered as the infection source,and the illness condition progressed to sepsis and MODS.Case 1 was complicated with empsyxis,jaundice hemorrhage and renal failure and finally died.Case 2 was also detected with leptospira from cerebrospinal fluid and was complicated with renal failure and meningoencephal-itis but was cured.Among 17 cases of leptospirosis from the literatures,the male and peasants were dominant,the infected water was the major infection factor(at least 7 cases);fever,pain and fatigue,shortness of breath and cough as well as hemoptysis were the major symptoms.There were at least 12 cases with the decline of plate-lets counts,10 cases complicated with empsyxis,11 cases complicated with shock and MODS and 10 cases treated with invasive mechanical ventilation.The misdiagnosis rate was up to 76.47％,and the mortality rate was 29.41％.CONCLUSIONS The leptospirosis is a severe disease,early precise antimicrobial treatment and timely or-gan function support are the crucial to the improvement of prognosis.The health care workers should attach great importance to inquiry for diagnosis,maintain vigilant to the disease for the people with fever of unknown ori-gin,shortness of breath,pain and fatigue by combining the epidemiological history,and make an early definite di-agnosis based on novel molecular diagnosis technique so as to avoid the progression to sepsis and MODS.

OBJECTIVE: To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes. METHODS: Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing. RESULTS: The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic. CONCLUSION Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Brain Diseases, Metabolic ; diagnosis ; genetics ; China ; DNA Mutational Analysis ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Humans ; Mutation

OBJECTIVETo review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.

METHODSClinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.

RESULTSTwo patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.

CONCLUSIONThe clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.

Adolescent ; Amino Acid Metabolism, Inborn Errors ; diagnostic imaging ; enzymology ; genetics ; Base Sequence ; Brain Diseases, Metabolic ; diagnostic imaging ; enzymology ; genetics ; China ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Homozygote ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography