In the areas of prevention and life skills counseling for breast cancer, risk assessment and prediction can assist clinicians to decide if chemoprevention or prophylactic surgery is needed or suggestions on improving the quality of life for their clients. Several mathematical models, namely Gail Model, Claus Model, BRCAPRO Model and Cuzick-Tyrer Model etc. have been developed to make predictions, clinically. This paper has reviewed the development, operation, advantage versus disadvantage and areas of application for the four models. Having family history of breast cancer, one subject was calculated on the risks by the four models and different results were found. Up to 45 years old, the accumulative risks from the four models and population risk were 1.9%, 11.8%, 2.5%, 5.0% and i.6%, respectively. To 75 years old, they were 20.2%,32.5%, 13.1%, 25.0% and 8.5%, respectively. The subject had a relatively high breast cancer risk during her lifetime. A new model is supposed to include a variety of important risk factors and to be validated by large scale of case-control samples. Incidence of breast cancer in China had significantly increased during the last ten years, but the research on developing assessment methods of breast cancer risk had never been reported, suggesting that the development of models for Chinese population is necessary.

Prevotella copri and its related taxa are widely detected in mammalian gut microbiomes and have been linked with an enterotype in humans.However,their microevolution and macroevolution among hosts are poorly characterized.In this study,extensively collected marker genes and genomes were analyzed to trace their evolutionary history,host specificity,and biogeographic distribution.Investigations based on marker genes and genomes suggest that a P.copri-containing lineage(PCL)harbors diverse species in higher primates.Firstly,P.copri in the human gut consisted of multiple groups exhibiting high genomic divergence and conspicuous but non-strict biogeographic patterns.Most African strains with high genomic divergence from other strains were phylogenetically located at the root of the species,indicating the co-evolutionary his-tory of P.copri and Homo sapiens.Secondly,although long-term co-evolution between PCL and higher primates was revealed,sporadic signals of co-speciation and extensive host jumping of PCL members were suggested among higher primates.Metagenomic and phylogenetic analyses indicated that P.copri and other PCL species found in domesticated mammals had been recently transmitted from humans.Thirdly,strong evidence was found on the extensively horizontal transfer of genes(e.g.,genes encoding carbohydrate-active enzymes)among sympatric P.copri groups and PCL species in the same primate host.Our study provides panoramic insights into the combined effects of vertical and horizontal transmission,as well as potential niche adaptation,on the microevolutionary and macroevolutionary history for an enterotype-representative lineage.

BACKGROUNDVon Hippel-Lindau disease (VHL), a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems, has rarely been reported in Asia. We genetically investigated a unique Chinese family with VHL disease and performed an analysis of the VHL protein stability.

METHODSGenomic deoxyribonucleic acid (DNA) extracted from peripheral blood was amplified by polymerase chain reaction (PCR) to three exons of the VHL gene in 9 members of the Chinese family with VHL disease. PCR products were directly sequenced. We estimated the effects of VHL gene mutation on the stability of pVHL, which is indicated by the free energy difference between the wild-type and the mutant protein (ΔΔG).

RESULTSThe Chinese family was classified as VHL type 1. Three family members, including two patients and a carrier, had a T to G heterozygotic missense mutation at nucleotide 515 of the VHL gene exon 1. This missense mutation resulted in the transition from leucine to arginine in amino acid 101 of the VHL protein. There was low stability of the VHL protein (the ΔΔG was 12.71 kcal/mol) caused by this missense mutation.

CONCLUSIONSWe first reported a family with this VHL gene mutation in Asia. This missense mutation is predicted to significantly reduce the stability of the VHL protein and contribute to the development of the renal cell carcinoma (RCC) phenotype displayed by this family. The genetic characterization and protein stability analysis of families with VHL disease are important for early diagnosis and prevention of the disease being passed on to their offspring.

Adult ; China ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Protein Stability ; Von Hippel-Lindau Tumor Suppressor Protein ; chemistry ; genetics ; von Hippel-Lindau Disease ; genetics

OBJECTIVETo study clinical effects of operation for the treatment of old fractures of the humerus lateral condyle in children.

METHODSFrom January 2012 to January 2014 in our department, 14 children of old humeral lateral condyle fractures were treated with operation. Ten cases were male, 4 cases were female; age from 2 to 12 years old, average 5.8 years old. The initial diagnosis was type IIfracture according to the Milch ciassification, the loss of treatment in 11 cases, conservative treatment in 3 cases of nonunion after fracture displacement. Two cases had mild cubitus valgus deformity; 10 cases had elbow disorders, and the motion range was limited from 15° to 60°; 6 cases had pain in activity. The time from injury to operation was 32 to 176 days(62 days on average) in 14 cases, the 14 cases were treated with open reduction and internal fixation. According to the Modified An-Morrey elbow function assessment criteria after surgery for curative effect.

RESULTSFourteen cases were followed up for 1 to 3 years, average 1.8 years. No nonunion, malunion, aseptic necrosis of the epiphysis, cubitus varus or valgus occurred. Five cases had mild protrusion deformity of external condyle, 3 cases still had mild dysfunction. The time of clinical bone union was 4 to 8 weeks in X-ray films. Five cases had bony spur formation, 3 cases had signs of early closure of epiphysis; 2 cases had a increasing volume of humeral lateral condyle; and 2 cases appeared tail deformity. Modified An-Morrey score averaged(95.2±3.6) points, 13 excellent, 1 good.

CONCLUSIONSFor the old fracture of humeral lateral condyle, operation can effectively restore the appearance and function of elbow joint, and the short-term curative effect is satisfactory, but the long-term effect needs further observation.

OBJECTIVE: To retrospectively analyze the clinical efficacy of olecranon osteotomy approach in the treatment of Dubberley type Ⅲ coronal fractures of the distal humerus and summarize the treatment experience. METHODS: From January 2016 to June 2020, 17 patients (5 males and 12 females) with Dubberley type Ⅲ coronal fractures of the distal humerus were treated by olecranon osteotomy approach. The age ranged from 37 to78 years old with an average of (58.5±12.9) years old. According to Dubberley classification, there were 5 cases of type Ⅲ A and 12 cases of type Ⅲ B. The curative effect was evaluated using the Borberg-Morrey elbow function score. The flexion, extension and rotation range of motion of the elbow joint, complications and postoperative imaging evaluation were recorded. RESULTS: All the 17 patients got bony union. The follow-up time ranged from 12 to 33 months with an average of (15.6±5.6) months. There was 1 case of ischemic necrosis of capitulum humeri, 2 cases of traumatic arthritis and 1 case of heterotopic ossification, 1 case of malunion of fracture. The range of motion was (114.80±19.50) °. The Broberg-Morrey score was 85.3±8.2, excellent in 5 cases, good in 9 cases, fair in 3 cases and poor in 0 case. CONCLUSION Through olecranon osteotomy approach, the articular surface of distal humerus could be fully exposed, and the operation is convenient. Anatomical reduction and rigid fixation of the articular surface of distal humerus are the key factors for the succesful outcome.
Male ; Female ; Humans ; Adult ; Olecranon Process/surgery* ; Elbow Joint/surgery* ; Humeral Fractures/surgery* ; Retrospective Studies ; Fracture Fixation, Internal/methods* ; Humerus/surgery* ; Treatment Outcome ; Range of Motion, Articular

To address the increasing need for detecting and validating protein biomarkers in clinical specimens, mass spectrometry (MS)-based targeted proteomic techniques, including the selected reaction monitoring (SRM), parallel reaction monitoring (PRM), and massively parallel data-independent acquisition (DIA), have been developed. For optimal performance, they require the fragment ion spectra of targeted peptides as prior knowledge. In this report, we describe a MS pipe-line and spectral resource to support targeted proteomics studies for human tissue samples. To build the spectral resource, we integrated common open-source MS computational tools to assemble a freely accessible computational workflow based on Docker. We then applied the workflow to gen-erate DPHL, a comprehensive DIA pan-human library, from 1096 data-dependent acquisition (DDA) MS raw files for 16 types of cancer samples. This extensive spectral resource was then applied to a proteomic study of 17 prostate cancer (PCa) patients. Thereafter, PRM validation was applied to a larger study of 57 PCa patients and the differential expression of three proteins in prostate tumor was validated. As a second application, the DPHL spectral resource was applied to a study consisting of plasma samples from 19 diffuse large B cell lymphoma (DLBCL) patients and 18 healthy control subjects. Differentially expressed proteins between DLBCL patients and healthy control subjects were detected by DIA-MS and confirmed by PRM. These data demonstrate that the DPHL supports DIA and PRM MS pipelines for robust protein biomarker discovery. DPHL is freely accessible at https://www.iprox.org/page/project.html?id=IPX0001400000.