Objective:To investigate the clinical and pathogenic characteristics of community acquired pyogenic liver abscess (PLA).Methods:The clinical data of 172 patients in First Affiliated Hospital of Soochow University with community acquired PLA from March 2013 to September 2018 were retrospectively collected, including clinical characteristics, distribution of the causative pathogens, treatment regimens and outcomes. Chi-square test was used for statistical analysis.Results:There were 158(91.9%) cases with fever, 69(40.1%) cases with abdominal pain among 172 PLA cases. One hundred and forty-three (83.1%) were solitary, and 141(82.0%) cases localized in right hepatic lobe. One hundred and six (61.6%) cases were PLA of cryptogenic origin. There were 156 cases underwent etiology detection, with the positive etiology detection of 99(63.5%) cases. Ninety-two (92.9%) cases were infected with a single strain, and seven (7.1%) cases were infected with mixed strains. A total of 115 strains of bacteria were isolated. The main strains included 71 (61.7%) Klebsiella pneumoniae (KP), 21 (18.3%) Escherichia coli (EC), among which 17 were extended spectrum β lactamase, and two carbapenem-resistant Enterobacteriaceae. Among the 61 KP-PLA patients, 42(68.9%) cases were diagnosed with diabetes, 16(26.2%) cases with biliary diseases, and one (1.6%) case with malignant tumor. Among the 15 EC-PLA patients, six cases were diagnosed with diabetes, nine cases with biliary diseases, and four cases with malignant tumors. There were statistically significant differences ( χ2=4.307, 4.784 and 8.536, respectively, all P<0.05). After admission, the patients were treated with antibiotics alone or combined with drainage. One-hundred and sixty-seven (97.1%) cases got improved. Conclusions:The clinical manifestations of PLA are atypical, and the dominant pathogens are KP and EC. The risk factors of PLA are diabetes mellitus, biliary diseases and malignant tumors.

Alstr?m syndrome is a rare multisystem genetic disease caused by mutations in the ALMS1 gene.Both of its clinical diagnosis and treatment are very difficult.In 2020, the Consensus Clinical Management Guidelines for Alstr?m Syndrome, developed with the participation of many countries, was published in the Orphanet Journal of Rare Diseases.A systematic literature review on Alstr?m syndrome of the last 45 years until October 2019 was carried out and then the clinical management guideline for Alstr?m syndrome was proposed.In this report, the contents of the 2020 European guideline for Alstr?m syndrome would be introduced briefly with appropriate interpretation in order to provide reference.

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4). CONCLUSION ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.
Alstrom Syndrome/genetics* ; Cell Cycle Proteins/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

The impairment of islets β cell by autoimmune response is an important cause of type 1 diabetes mellitus (T1DM). Some monogenic autoimmune syndromes could induce T1DM in difference chance, which are important disease models to deeply understand autoimmunity and T1DM. This article reviews the diagnosis, treatment and genetic detection of eight known single gene autoimmune syndromes associated with T1DM, arming to expand the diagnosis and treatment of T1DM.