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Objective To investigate the clinical characteristics of the hepatolenticular degeneration in children, and to clarify the significance of gene diagnosis in children with hepatolenticular degeneration. Methods A total of 75 patients with hepatolenticular degeneration were enrolled in the Department of Pediatrics, Peking Union Medical College Hospital from 2011 to 2018. All of them carried out a generation of gene sequencing for ATPase Cu2+ transporting beta polypeptide (ATP7B) gene and multiplex ligation-dependent probe amplification (MLPA) analysis. Results Among the 75 pediatric patients, 55 patients were asymptomatic and had elevated aminotransferases as the incidental findings. All the pediatric patients had decreased ceruloplasmin. Seventy-two of pediatric patients had 24-hour urinary copper＞40 μg/d. There were 16 cases that had Kayser-Fleischer(K-F) rings. Sixteen six out of 75(21.33%)cases were diagnosed clinically and 15 cases were＞7 years old. All the remaining patients needed genetic diagnosis. Sixty-six patients had two mutations and 9 patients had only one mutation, 1 had no mutation. Forty eight different mutations were found to be localized in ATP7B gene. These mutations included 32 missense mutations, 6 splice mutations, 5 deletion mutations, 2 repeated mutations, 2 insert mutations and 1 nonsense mutations. The most frequently three mutations were c.2333G＞T,p.R778L,c.2621C＞T, p.A874V,c.2975C＞T, p.P992L,whose allele frequencies were 30.49%,14.89%,9.92%. Conclusions The research showed that in young aged patients, the nervous system symptoms are not obvious and the positive rate of laboratory tests are lower than adults so is a challenge to clinical diagnosis. So Genetic testing is of great significance for the early diagnosis and early treatment of disease in pediatric patients.

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder. The prevalence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand. The vascular EDS(vEDS) are rare among the subtypes but are the worst in prognosis. The article reports a case of vEDS admitted to the hospital. The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons. The diagnosis was made after the genetic testing. The patient suffered from vEDS. Then, the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient. The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging. This article hopes to report this case and to share the experiences to the better understanding of this disease.

Simple Summary: The current study aimed to investigate the virulence and resistance genes associated with Klebsiella pneumoniae isolated from the farms of four animal species in selected areas of Xinjiang, China, encompassing cows, sheep, chickens, and pigs. The sensitivity to antibiotics was evaluated. Genetic diversity was assessed using wzi allele typing and multilocus sequence typing. The findings shed light on the antibiotic resistance patterns and genetic diversity among K. pneumoniae isolates originating from different animal sources, highlighting the potential for inter-species transmission of this bacterium. Klebsiella pneumoniae (K. pneumoniae) is recognized as a zoonotic pathogen with an increasing threat to livestock and poultry. However, research on K. pneumoniae of animal origin remains limited. To address the gap, a comprehensive investigation was carried out by collecting a total of 311 samples from the farms of four animal species (dairy cow, chicken, sheep, and pig) in selected areas of Xinjiang, China. Isolates were identified by khe gene amplification and 16S rRNA gene sequencing. Genotyping of K. pneumonia isolates was performed using wzi typing and multilocus sequence typing (MLST). PCR was employed to identify virulence and resistance genes. An antibiotic susceptibility test was conducted using the Kirby–Bauer method. The findings revealed an isolation of 62 K. pneumoniae strains, with an average isolation rate of 19.94%, with the highest proportion originating from cattle sources (33.33%). Over 85.00% of these isolates harbored six virulence genes (wabG, uge, fimH, markD, entB, and ureA); while more than 75.00% of isolates possessed four resistance genes (blaTEM, blaSHV, oqxA, and gyrA). All isolates exhibited complete resistance to ampicillin and demonstrated substantial resistance to sulfisoxazole, amoxicillin/clavulanic acid, and enrofloxacin, with an antibiotic resistance rate of more than 50%. Furthermore, 48.39% (30/62) of isolates were classified as multidrug-resistant (MDR) strains, with a significantly higher isolation rate observed in the swine farms (66.67%) compared to other farms. Genetic characterization revealed the classification of the 62 isolates into 30 distinct wzi allele types or 35 different sequence types (STs). Notably, we identified K. pneumoniae strains of dairy and swine origin belonging to the same ST42 and wzi33-KL64 types, as well as strains of dairy and chicken origin belonging to the same wzi31-KL31-K31 type. These findings emphasize the widespread occurrence of drug-resistant K. pneumoniae across diverse animal sources in Xinjiang, underscoring the high prevalence of multidrug resistance. Additionally, our results suggest the potential for animal-to-animal transmission of K. pneumoniae and there was a correlation between virulence genes and antibiotic resistance genes. Moreover, the current study provides valuable data on the prevalence, antibiotic resistance, and genetic diversity of K. pneumoniae originating from diverse animal sources in Xinjiang, China. [ABSTRACT FROM AUTHOR]