Reports a case admitted in the Ward I of Department of Surgery of Zhengzhou Renji Hospital in June 2017. A young child who suffered destructive injury of left forearm, wrist and palm with severed 3rd-5th fingers. Tendon and neurovascular repairs of forearm, wrist and palm were performed with pedicled abdomina flap and the 3rd-5th fingers ectopic replantation in Phase I surgery. In the Phase II surgery, the abdomina flap division was carried out. The replantation of severed fingers after ectopic replantation and the reconstruction of foot defect with free anterolateral thigh flap(ALTF) were carried out in Phase III surgery. In Phase IV surgery, fingers functional reconstruction and foot flap thinning were performed. Four years after surgery, the thumb oppositions to middle, ring and little fingers could be completed, with slightly limitations. The appearance and texture of transferred foot flap were good, and the child could walk and run almost normally.

With the extensive application of highly sensitive genetic techniques in the field of prenatal diagnosis, prenatal chromosomal mosaicisms including true fetal mosaicisms and confined placental mosaicisms are frequently identified in clinical settings, and the diagnostic criteria and principle of genetic counseling and clinical management for such cases may vary significantly among healthcare centers across the country. This not only has brought challenges to laboratory technician, genetic counselor and fetal medicine doctor, but can also cause confusion and anxiety of the pregnant woman and their family members. In this regard, we have formulated a consensus over the prenatal diagnosis and genetic counseling for chromosomal mosaicisms with the aim to promote more accurate and rational evaluation for fetal chromosomal mosaicisms in prenatal clinics.
Consensus ; Female ; Genetic Counseling ; Humans ; Mosaicism ; Placenta ; Pregnancy ; Prenatal Diagnosis/methods*

Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.
Aneuploidy ; Cell-Free Nucleic Acids/genetics* ; Consensus ; DNA Copy Number Variations ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Prenatal Diagnosis

Chromosomal microdeletions and microduplications have been proven to be a significant proportion of genetic factors underlying birth defects. Chromosomal microarray analysis (CMA) and next generation sequencing-based copy number variation (CNV-seq) assay have been recommended as first-tier tests for prenatal evaluation of disease-causing CNV across the genome. With the broad application of such technologies in prenatal genetic diagnosis, there is a needed to enhance the consistency in interpretation and reporting of CNV results in clinical laboratories across China. In addition, a standard guideline for prenatal analysis and reporting of regions of homozygosity (ROH) is also required. To assist the classification, interpretation and reporting of CNV/ROH, the following recommendations have been developed, which may enhance a standard application of CMA/CNV-seq techniques in prenatal genetic diagnosis.

With the rapid development and adaptation of high-throughput sequencing in clinical settings, application of exome sequencing (ES) has been gradually expanded from pediatric to prenatal diagnosis in recent years. There is an urgent need to establish criteria for clinical grade ES in order to facilitate such a complex testing. The standardization of pre- and post-test consultation, quality control for sample processing process and validation of bioinformatics data analysis, and more importantly data interpretation and reporting, as well as appropriate reporting scope, is of great importance for health care stakeholders. To achieve this, a committee composed of a wide range of healthcare professionals has proposed an ES standard for prenatal diagnosis. This has provided expert opinion on the genetic counseling and reporting standards of prenatal ES for the purpose of applying ES technology in prenatal setting.

OBJECTIVE To study the gene chip joint pyrosequencing technology in the newborn genetic deafness gene mutation screening, and provide a theoretical basis for the early diagnosis and prevention of genetic deafness. METHODS 2000 Neonatal EDTA umbilical cord blood was collected and genomic DNA (gDNA) was extracted. Microarray chip was used to detect four deafness gene at 9 mutation sites. And the positive result of gene chip detection was verified by pyrosequencing.RESULTS Among the GJB2 mutations, there were 1 case of 35delG mutation type, 3 cases of 176 del16 mutation type, 57 cases of 235del C mutation type, 9 cases of 299 del AT mutation type, 6 cases of GJB3 gene 538C>T mutation type. There were 5 cases of 1555A>G mutations and 1 case of 1494C>T mutations in mitochondrial 12S rRNA. There were 6 cases of 2168A>G mutation type and 23 cases of IVS7-2A>G mutations in SLC26A4. 103 cases of newborns carry the mutated gene in 2,000, the gene mutation rate is 5.15%. CONCLUSION All the four genes mutation at nine mutation sites are found in newborns with family history of non-hereditary deafness, and GJB2 gene mutation is common. The screening of genetic deafness in newborns is very important for early diagnosis and prevention of hereditary hearing loss. In particular, the diagnosis of mitochondrial 12S rRNA gene mutation can prevent the occurrence of deafness caused by drug use, for the genetic mutation of these carriers' health is of great significance.

Objective To report the results of lung transplantation using graft lungs from donation after citizens death.Methods The clinical data of lung transplantation between January 2016 and June 2016 were analyzed retrospectively.Results Totally 20 patients with end stage lung diseases underwent lung transplantation.Of the 20 patients,11 cases (55％) underwent single lung transplantation and 9 cases (45 ％) underwent bilateral lung transplantation.The top two diseases for lung transplantation were pulmonary fibrosis in 11 cases (55％) and emphysema in 6 cases (30％).Four cases (20％) were given intraoperative ECMO support.Median duration of postoperative intubation was 2 days:1 day for single lung transplantation and 4 days for bilateral lung transplantation,respectively.Acute rejections were diagnosed in 9 patients (45％) who were successfully treated with high-dose intravenous methylprednisolone or methylprednisolone combined with anti-human thymocyte globulin.Postoperative pneumonia episodes occurred in 16 cases (80％)and 4 of them were associated fungal pneumonia.Preoperative sputum culture showed positive bacteria in 16 donors (80％) and 17 kinds of strains were identified.Postoperative sputum culture showed positive bacteria in 19 recipients and 4 of them had the same strains as compared with the corresponding donors.One recipient died of primary graft dysfunction in early term (＜ 1 month)postoperatively,two recipients abandoned treatments and died in 1 week after the discharge,and the remaining 17 cases successfully recovered.Median hospital duration was 55 days:35 days for single lung transplantation and 67 days for bilateral lung transplantation,respectively.Conclusion LLung transplantation is an effective treatment for end-stage lung diseases.Carefully selecting donors,well protecting graft lung and proper peri-operative treatment are the key steps leading to successful lung transplantation using grafts from organ procurement organization.

BACKGROUND:The relationship between the occurrence time and clinical symptoms of bone marrow edema in nontraumatic femoral head necrosis is stil controversial. OBJECTIVE:To evaluate the relationship of bone marrow edema in nontraumatic femoral head necrosis with Association Research Circulation Osseous (ARCO) staging and pain grading. METHODS: Forty-eight patients with nontraumatic femoral head necrosis (58 hips) were confirmed to have bone marrow edema on MRI T1 weighted images and T2 fat suppression images. Then, the patients were graded according to the MRI Classification Method reported by Zhao Pei-rong, the ARCO Staging System and Harris hip score for pain grading. We analyzed the correlation of bone marrow edema with ARCO staging and pain grading. RESULTS AND CONCLUSION:The incidence rate of bone marrow edema in ARCO I-III was increased in sequence, and the difference was statisticaly significant (χ2=27.69,P=0.001); the average rank of bone marrow edema in ARCO I-III was increased significantly (χ2=19.947,P=0.000). The incidence rate of bone marrow edema also increased among different pain grading, and the difference was statisticaly significant (χ2=57.0, P=0.000); the average rank of bone marrow edema among different pain grading was increased significantly (χ2=174.0,P=0.000). The presence and aggravation of bone marrow edema indicate the enlargement of necrosis area and the aggravation of symptoms in patients with nontraumatic femoral head necrosis, which can be used as an auxiliary index for the appraisal of disease progression.

Objective To evaluate the clinical effects of endobronchial ultrasound - transbronchial needle aspiration (EBUS-TBNA) in the evaluation of staging of lung cancer.Methods Between July 2008 to March 2010,the first 128 patients selected by CT or PET/CT scanning with lung cancer in whom metastatic carcinoma in the hilar and/or mediastinal lymph nodes underwent EBUS-TBNA and were clinically followed up.There were 102 males and 26 femals with the age of 37 - 85 years,average 60.1 years.Review the performance in check and the result of biopsy.Results From 128 patients of mean age 60.1 years ( range 37 - 85 ),189 lymph nodes were punctured.The mean diameter of the nodes was 12.3 mm and the range was 6-16 mm.There were no procedural complications.Accuracy,sensitivity,and specificity for EBUS-TBNA were 98.53％,98.50％,and 100％,respectively.Conclusion EBUS-TBNA allows real-time visualization of mediastinal and hilar lymph nodes,allowing sampling safely and efficiently.It has great potential for diagnosis of staging of lung cancer.

BACKGROUND: Magnetic resonance imaging(MRI)is considered safe for diagnosis of meniscus injury,having accuracy as high as 80% to 100%.However,it is found that there are some false positive and false negative in the clinic.OBJECTIVE: Through assessment of menisci injuries of the knee using magnetic resonance imaging and arthroscopy,to investigate MRI manifestation in different types of meniscal injuries.METHODS: A study from January 2003 to December 2008 was performed in 212 patients with knee injury undergoing preoperative MRI.Radiograph was read by physicians who had a senior professional title from radiology and orthopaedics departments,and meniscus damage and damage morphology were predicted.Arthroscopy was conducted by chief physician.Meniscus damage during surgery was considered as gold standards.The accuracy of them was compared.The statistics of accuracy of MRI diagnosis was gathered.RESULTS AND CONCLUSION: Totally 212 patients and 230 knees were included,and a total of 215 knees of meniscus injury were described by MRI diagnosis and 213 knees of meniscus injury were proven by arthroscopy.The sensitivity,specificity and accuracy of MRI diagnosis of meniscus injury respectively were 93.5%,64.7%,93.0%.It is found that the sensitivity of MRI diagnosis of bucket-handle damage is high.MRI is easy to miss diagnosis in a light meniscus posterior horn tear,and resuts are more false positive in lateral meniscus injury.It needs arthroscope operation or further surgery in some condition such as gradeⅢ type injury,meniscus displacement after injury and articular capsule separation,which indicates instable meniscus.