Clinical analysis of 24 cases of pediatric acute lymphoblastic leukemia with renal involvement as the initial manifestation / 中华实用儿科临床杂志

Objective:To investigate the clinical features and long-term prognosis of pediatric acute lymphoblastic leukemia (ALL) with renal involvement as the initial manifestation, thus enhancing the diagnostic and therapeutic efficacy.Methods:Twenty-four cases of pediatric ALL with renal involvement as the initial manifestation treated in the First Affiliated Hospital of Zhengzhou University from March 2013 to March 2019 were analyzed retrospectively, and their clinical characteristics were analyzed.According to renal imaging examination findings, they were divided into abnormal group and normal group.The differences in clinical features between the two groups were compared, and the cumulative survival rate was evaluated by Kaplan-Meier method.Results:Among 1 030 newly treated cases of pediatric ALL, 24 cases(2.33%) had renal involvement as the initial manifestation, involving 20 males and 4 females, with a male/female ratio of 5∶1 and the median age of 4.3 years (1.3-14.0 years). There were 16 cases of superficial lymph node enlargement and 21 cases of hepatosplenomegaly.Immature cells in peripheral blood were found in 15 cases.Nine cases were examined with abnormal renal imaging, involving 8 cases returned normal after chemotherapy, and 1 died of renal failure.At the end of follow-up on August 1, 2020, there were 9 cases of bone marrow relapse, 11 survival cases, 10 death cases and 3 cases of loss to follow-up.There were no significant differences in the sex, age, immunophenotype, organ infiltration and urinary protein between the two groups (all P>0.05). The proportion of high creatinine level and intramedullary recurrence rate in the abnormal group were significantly higher than those in the normal group [55.6%(5/9 cases) vs.0(0/15 cases), P=0.003; 66.7%(6/9 cases) vs.20.0%(3/15 cases), P=0.036]. The survival analysis indicated that the 3-year cumulative survival in the abnormal group was significantly lower than that of normal group (17.3% vs.72.7%, χ2=4.047, P< 0.05). Conclusions:For children with unexplained renal involvement as the initial manifestation, clinicians should consider the possibility of leukemic renal infiltration or nephrogenic lymphoma.Physical examinations of the liver, spleen and lymph nodes, morphological analysis of peripheral blood cells, bone marrow examination and renal biopsy are important to make a definite diagnosis in time.Children with imaging abnormalities caused by leukemic renal infiltration are more likely to relapse and have a lower survival rate, which may be a poor prognostic factor for ALL.

Ferulic acid protects palmitic acid-induced lipotoxicity in hepatocytes via inhibiting p38 MAPK / 中国临床药理学与治疗学

AIM: To investigate the protective effect of ferulic acid on palmitic acid-induced lipotoxicity in HepG2 cells and to explore its potential molecular mechanisms. METHODS: HepG2 cells were induced by palmitic acid to establish a lipotoxicity model, while ferulic acid was added prior to palmitic acid treatment. Lactate dehydrogenase (LDH) was used to detect cell damage. Methyl azozole trace enzyme reaction is used for 3-(4, 5)-dimethylthiahiazo (-z-y1)-3, 5-di-phenytetrazoliumromide (MTT) was employed to detect cell viability. The molecular mechanisms of the protective effect of ferulic acid was analyzed by Western Blotting. RESULTS: There was no cytotoxic effect of different concentrations of ferulic acid (25, 50, 100, 200 μmol/L) treatment on HepG2 cells (P>0.05). Ferulic acid intervention significantly inhibited palmitic acid-induced cell death and improved palmitic acid-induced reduction of cell mitochondrial membrane potential (P<0.05). The activation of p38 significantly enhanced palmitic acid-induced hepatocellular lipotoxicity (P<0.05), while inhibition of p38 significantly improved palmitic acid-induced cell damage (P<0.05). In addition, ferulic acid significantly inhibited the upregulation of p38 phosphorylation by palmitic acid treatment (P<0.05). p38 activator exposure blocked the protective effect of ferulic acid on lipotoxicity (P<0.05). CONCLUSION: Ferulic acid effectively improves hepatocellular injury induced by lipotoxicity.The inhibition of p38 signaling pathway is potentially involved in its protective effect. Ferulic acid may be an effective factor in the prevention and treatment of liver disease with lipotoxicity as a major pathological characteristic.

Salvianolic acid A improves palmitie acid-induced lipotoxicity in cardiomyocyte via inhibiting TLR4/JNK MAPK / 中国临床药理学与治疗学

AIM: To reveal the ameliorative effect of salvianolic acid A on palmitie acid-induced lipotoxicity in H9C2 cells and to explore its potential molecular mechanisms preliminarily. METHODS: H9C2 cell were induced by palmitie acid to establish a lipotoxicity model, while salvianolic acid A was added prior to palmitie acid treatment. Lactate dehydrogenase (LDH) was employed to detect cell damage. Cell counting Kit-8 was used to detect cell viability. The changes of mitochondrial membrane potential in cardiomyocyte were observed by rhodamine 123 staining. The molecular mechanisms of the ameliorative effect of salvianolic acid A was analyzed by Western Blotting. RESULTS: Palmitie acid at a concentration of 400 μmol/L significantly caused lipotoxicity damage to H9C2 cells (P0.05). Salvianolic acid A intervention significantly improved lipotoxicity-induced cell death and reduction of cell mitochondrial membrane potential (P<0.05). The activation of toll-like receptor 4 (TLR4) significantly enhanced lipotoxicity-induced cell damage (P<0.05), while inhibition of TLR4 significantly reduced palmitie acid-induced lipotoxicity (P<0.05). In addition, salvianolic acid A effectively inhibited the upregulation of TLR4 and the downstream c-Jun N-terminal kinase (JNK MAPK) of TLR4 by palmitie acid treatment (P<0.05). CONCLUSION: Salvianolic acid A effectively improves lipotoxicity-induced cardiomyocyte damage. The inhibition of p38 signaling pathway is potentially involved in its protective effect. The protective effect may be related to the inhibition of TLR4/JNK MAPK signaling pathway, providing a potential molecular target for the prevention and treatment of lipotoxic cardiomyopathy.

Discovery of a small molecule inhibitor of cullin neddylation that triggers ER stress to induce autophagy

Protein neddylation is catalyzed by a three-enzyme cascade, namely an E1 NEDD8-activating enzyme (NAE), one of two E2 NEDD8 conjugation enzymes and one of several E3 NEDD8 ligases. The physiological substrates of neddylation are the family members of cullin, the scaffold component of cullin RING ligases (CRLs). Currently, a potent E1 inhibitor, MLN4924, also known as pevonedistat, is in several clinical trials for anti-cancer therapy. Here we report the discovery, through virtual screening and structural modifications, of a small molecule compound HA-1141 that directly binds to NAE in both

A follow-up study of 89 children with acquired aplastic anemia treated with immunosuppression / 中华实用儿科临床杂志

Objective:To analyze the efficacy and relevant indicators of efficacy prediction of immunosuppre-ssive therapy (IST) that was composed of rabbit anti-human thymocyte immunoglobulin (rATG) and cyclosporine A (CsA) to treat acquired aplastic anemia (AA) in children.Methods:Retrospective analysis of the clinical data from 89 cases of children who were diagnosed with acquired AA and applied IST in Children′s Hospital of the First Affiliated Hospital of Zhengzhou University from January 1, 2012 to November 30, 2016 were collected.Patients were followed up for 2 years.Clinical features, curative effect and relevant indicators of efficacy prediction were analyzed retrospectively.Results:Among the 89 children with acquired AA, there were 27 cases of very severe AA(vSAA), 48 cases of severe AA(SAA) and 14 cases of transfusion-dependent non-severe AA(NSAA), with the median age of 7 years old.There was no significant difference in the curative effect among vSAA, SAA and transfusion dependent NSAA at different follow-up time nodes ( P>0.05). The recurrence rate of acquired AA was 4.49%(4/89 cases) and the median recurrence time was 18 months.The clonal evolution of acquired AA was 2.24%(2/89 cases). In multi-factor analysis, at the 6 th month of IST treatment, the newly diagnosed children displayed increased CD4 +/CD8 + ratio and early treatment response to granulocyte colony stimulating factor (G-CSF), indicating that the children responded well to the treatment of IST. Conclusions:Combined with CsA, the IST of rATG is a safe and effective method for the treatment of acquired AA in children.The higher CD4 +/CD8 + ratio and early treatment response of G-CSF are good predictors of treatment response to immunosuppressive therapy at 6 months, respectively.

Clinical diagnosis and treatment of 20 cases of breast neuroendocrine carcinoma / 中华内分泌外科杂志

Objective To investigate the clinical characteristics,diagnosis and treatment strategies of breast neuroendocrine carcinoma.Methods 20 cases with breast neuroendocrine carcinoma,who were admitted in Department of Breast Surgery,the Second Affiliated Hospital of Dalian Medical University from Mar.2005 to Dec.2017,were analyzed retrospectively.Results The average age of the 20 patients was(54.35±13.35) years.In aspect of surgery,18 patients received modified radical mastectomy,1 patient received total glandectomy and sentinel lymph node biopsy and stage I silicone implant breast reconstruction,and 1 patient received radical mastec tomy.In terms of pathological types,there were 5 cases (25.0％) of highly differentiated neuroendocrine carcinoma,4 cases (20.0％) of poorly differentiated neuroendocrine carcinoma (small cell carcinoma),and 11 cases (55.0％)of invasive breast cancer with neuroendocrine differentiation.In molecular typing,there were 7 cases (35.0％) of Luminal A,7 cases (35.0％) of Luminal B (HER2 negative),4 cases (20.0％) of Luminal B (HER2 positive),and one case(5.0％) of HER2 type and one case(5.0％) of Basal-like type.The positive rates of ER,PR and HER2 in this group were 90.0％,60.0％ and 25.0％ respectively.20 patients were followed up for 5 to 119 months,with an average follow-up of (59.85±24.51) months.One patient developed bone metastases in the 6th year after surgery and survived for 119 months.One patient developed pulmonary metastasis at the 20th month after surgery and died at the 28th month after surgery.So far,the remaining postoperative patients still survived and no sign of recurrence or metastasis was found.Conclusion The diagnosis of breast neuroendocrine carcinoma relies on histopathological and immunohistochemical detection.Its ER/PR positive rate is high,its molecular typing is mostly Luminal type,and neoadjuvant treatment can be performed when necessary.For specific patients whose ER or PR are positive,neoadjuvant endocrine therapy is also a well-established therapy,even the optimal results can be achieved.However,more cases are still needed for research.

Young Patients with Hormone Receptor-Positive Breast Cancer Have a Higher Long-Term Risk of Breast Cancer Specific Death / 한국유방암학회지

PURPOSE: Although it is widely accepted that hormone receptor (HR) status is associated with later post-diagnostic periods, a debate exists as to whether the association is independent of age. The aim of our study was to confirm the impact of HR status on later period breast cancer-specific death (LP-BCSD) and later period non-breast cancer-specific death (LP-non-BCSD) in different age subgroups. METHODS: Surveillance, Epidemiology, and End Results databases were utilized to identify 181,108 breast cancer patients with > 5 years survival. The cumulative incidence of LP-BCSD and LP-non-BCSD was calculated using the Gray method. The subdistribution hazard ratio (SHR) of variables was estimated via the Fine and Gray proportional hazard regression model. Subgroup analyses for LP-BCSD and LP-non-BCSD were performed according to the HR status. RESULTS: The risk of LP-BCSD was exceeded by that of LP-non-BCSD at > 5 years since the diagnosis, particularly in old women. The competing risk regression model indicated that hormone receptor-positive (HR+) was an independent factor for more LP-BCSD (hazard ratio, 1.54; 95% confidence interval, 1.44–1.54; p < 0.001). However, stratified analysis indicated that HR+ was only associated with more LP-BCSD in the young women subgroup. Although HR+ was associated with more LP-non-BCSD, the predictive value of HR+ for LP-non-BCSD was eliminated after adjusting for age. CONCLUSIONS: HR+ was related to LP-BCSD in the premenopausal population. LP-BCSD should be an optimal endpoint in future trials designed to evaluate the role of extended adjuvant endocrine therapy.

Surveillance of bacterial resistance in hospitals across Anhui Chuzhou in 2016 / 中国感染与化疗杂志

Objective To investigate the bacterial resistance profile of clinical isolates collected in the hospitals across Chuzhou in 2016. Methods Antimicrobial susceptibility testing was carried out by Kirby-Bauer method. The data were analyzed using WHONET 5.6 software according to CLSI 2015 breakpoints. Results A total of 5 465 clinical isolates were collected during 2016, of which gram positive organisms and gram negative organisms accounted for 25.9％ (1 416/5 465) and 74.1％ (4 049/5 465), respectively. Prevalence of MRSA was 37.6％ among S. aureus and the prevalence of MRCNS was 78.1％ in CNS. All Staphylococcus, E. faecalis and E. faecium isolates were sensitive to vancomycin and linezolid. The prevalence of extended spectrum-lactamases (ESBLs) positive strains was 51.2％ in E. coli, 23.4％ in Klebsiella spp. (K. pneumoniae and K. oxytoca), and 23.6％ in P. mirabilis isolates, respectively. The Enterobacteriaceae strains were highly sensitive to carbapenems. The percentage of the P. aeruginosa isolates resistant to the antimicrobials tested was lower than 30％. The percentage of the Acinetobacter strains resistant to meropenem and imipenem was 65.6％ and 67.4％, respectively. Conclusions The situation of antibiotic resistance is still very serious, especially multi-drug or pan-drug resistant strains, which is of great concern.

Surveillance of antimicrobial resistance in the clinical isolates from Children's Hospital of Chuzhou during 2014 / 中国感染与化疗杂志

Objective To investigate the distribution and antimicrobial resistance of the clinical isolates from Children's Hospital of Chuzhou during 2014.Methods A retrospective analysis was conducted with the bacterial strains isolated from various clinical specimens in 2014.Results A total of 382 clinical isolates were collected during 2014, of which gram positive organisms and gram negative organisms accounted for 37.4 % and 62.6 %, respectively. The top 5 most frequently isolated microorganisms were E. coli (18.8 %),K. pneumoniae (16.8 %), coagulase negative Staphylococcus (13.1 %),S. pneumoniae (9.4 %) and S. aureus (9.2 %). The prevalence of MRSA was 28.6 % in S. aureus and the prevalence of MRCNS was 76 % in CNS. All staphylococcal strains were susceptible to daptomycin, linezolid and vancomycin. All the E. faecalis and E. faecium isolates were sensitive to daptomycin, linezolid and vancomycin. All the S. pneumoniae strains were susceptible to penicillin. The prevalence of extended spectrum-lactamases (ESBLs) positive strains was 58.3 % in E. coli and 28.1 % in K. pneumoniae. The Enterobacteriaceae strains were highly sensitive to carbapenems. Only 3 (1.6 %) carbapenem-resistant strains were identified in the Enterobacteriaceae isolates. About 13.3 % and 6.7 % of theP. aeruginosa isolates were resistant to piperacillin and levofloxacin, respectively. All the P. aeruginosa strains were sensitive to the other antimicrobial agents. The percentage of carbapenem-resistantAcinetobacter strains was lower than 10 %. Only one carbapenem-resistant A. baumannii strain was identified.Conclusions Gram negative microorganisms account for most part of the clinical bacterial isolates in 2014. The antimicrobial resistance is still very serious in this hospital, especially the emergence of carbapenem-resistant Enterobacteriaceae, which is of great concern.

Surveillance of antimicrobial resistance in the clinical isolates from Children's Hospital of Chuzhou during the period from 2014 to 2016 / 中国感染与化疗杂志

Objective To investigate the distribution and antibiotic resistance of bacterial isolates from Children's Hospital of Chuzhou during the period from January 2014 through December 2016.Methods A retrospective analysis was carried out for 1 057 bacterial strains isolated from clinical specimens from January 2014 through December 2016.Results Of the 1 057 clinical isolates collected,gram positive organisms and gram-negative organisms accounted for 45.3％ (479/1 057) and 54.7％ (578/1 057),respectively.The top 5 most frequently isolated microorganisms were E.coli (19.6％),S.aureus (15.9％),Klebsiella spp.(14.4％),coagulase negative Staphylococcus (12.6％) and S.pneumoniae (9.1％).All the S.pneumoniae isolates were susceptible to penicillin.Prevalence of MRSA was 29.8％ among S.aureus and the prevalence of MRCNS was 74.4％ in CNS.All Staphylococcus strains were susceptible to daptomycin,linezolid and vancomycin.E.faecium strains showed much higher resistance rate to most of the antimicrobial agents tested than E.faecalis.The prevalence of ESBLs-positive strains was 50.2％ in E.coli,32.4％ in Klebsiella spp.(K.pneumoniae and K.oxytoca) and 83.3％ in P.mirabilis,respectively.The Enterobacteriaceae strains were highly sensitive to carbapenems.A total of 12 (2.5％) carbapenem-resistant strains were identified from 485 Enterobacteriaceae isolates.P aeruginosa and Acinetobacter spp.were highly sensitive to carbapenems.Conclusion Gram negative bacteria are still dominant pathogens in clinical practice.It is necessary to strengthen monitoring of antibiotic resistance,which is still a serious issue of great concern.

Surveillance of antimicrobial resistance in the strains isolated from Chuzhou First People's Hospital in 2016 / 中国感染与化疗杂志

Objective To investigate the distribution and antimicrobial resistance profile of the bacterial strains isolated from Chuzhou First People's Hospital in 2016.Methods The bacterial isolates were identified and tested for antibiotic susceptibility using MicroScan WalkAway 96 PLUS bacterial identification system.All the data were analyzed with WHONET 5.6 software.Results A total of 1 441 clinical isolates were collected during 2016,of which gram-positive organisms accounted for 28.4％ and gram-negative organisms 71.6％.Prevalence of methicillin-resistant strains in S.aureus (MRSA) and coagulase negative Staphylococcus (MRCNS) was 37.5％ and 83.0％,respectively.All Staphylococcus isolates were susceptible to vancomycin,daptomycin and linezolid.All E.faecium isolates were susceptible to daptomycin,vancornycin and linezolid.One strain (2.6％) of E.faecalis was resistant to linezolid.All Streptococcus pneumoniae strains (mainly isolated from children) were susceptible to penicillin.The prevalence of extended-spectrum beta-lactamases (ESBLs) positive strains was 49.1％,24.2％ and 62.5％ in E.coli,Klebsiella (K.pneumoniae and K.oxytoca) and P mirabilis,respectively.The resistance rate of ESBLs-positive strains was higher than ESBLs-negative strains to most antibiotics.The percentage of the P.aeruginosa isolates resistant to meropenem and imipenem was all 10.4％.The percentage of Acinetobacter (A.baumannii accounted for 95.0％) strains resistant to imipenem and meropenem was 79.0％ and 78.2％.Conclusions The situation of antibiotic resistance is still very serious in 2016 in this hospital.The prevalence of carbapenemresistant K.pneumoniae and 4.baumannii is still increasing,which is of great concern.

Superior rectal artery chemoembolization for rectal cancer associated with hepatic metastasis:preliminary results in 17 patients / 介入放射学杂志

Objective To discuss the safety and curative effect of superior rectal artery chemoembolization in treating rectal cancer complicated by hepatic metastasis.Methods A total of 17 patients with rectal cancer complicated by hepatic metastases were treated with hepatic arterial chemoembolization together with subsequent superior rectal artery chemoembolization.Super-selective catheterization of superior rectal artery with a 3-F microcatheter was performed first,which was followed by perfusion of 5-Fu and oxaliplatin through the microcatheter,and then irinotecan and Lipiodol emulsion was injected.Results Technical success was obtained in all 17 patients.In 2-7 days after the treatment,the amount of faeces containing mucus,blood and pus was significantly increased,besides,obvious necrotic tissues could be observed in the faeces in some patients.Among the 3 patients who had complained of abdominal pain,the pain disappeared in 3 days (n=2) or in 5 days (n=1) after the treatment.One week after the treatment,anal pain disappeared in 5 patients and was remarkably improved in 2 patients;tenesmus feeling was significantly relieved in 7 patients although the improvement of tenesmus feeling was not obvious in other 4 patients.During the long period following-up,no intestinal perforation or local infection was observed.Conclusion For the treatment of rectal cancer associated with hepatic metastasis,superior rectal artery chemoembolization is safe and effective.It can quickly cause rectal tumor necrosis,which is an important therapeutic response in treating rectal cancer with comprehensive therapy.

A qualitative study on psychological experience of young uremic patients during different periods waiting for renal donor / 重庆医学

Objective To investigate the psychological experiences of young uremic patients during different periods waiting for renal donor .Methods The phenomenology study method was adopted to conduct the semi-structure interviews in young uremic patients waiting for renal donor .Results The four themes were summarized:(1) having hope at the early stage (0—6 months);(2) ineffective coping at the middle stage(7—12 months);(3)uncertainty at the late stage(13—24 months);(4)serious negative emo-tion(more than 2 years) .Conclusion The young uremic patients patients waiting for renal donors have complex and changeable psychological experience .Medical staff should provide the pertinent professional support for promoting the living quality of patients by aiming at the psychological characteristics in young uremic patients .

Distribution and drug resistance of pathogens isolated from urine culture in 2013 from a 3A hospital / 国际检验医学杂志

Objective To investigate the distribution and drug resistance of pathogens isolated from urine culture in 2013 and provide basis for clinical treatment .Methods MicroScan WalkAway 96 PLUS bacterial identification system was used to identify the pathogens and drug susceptibility testing .The data were analyzed by WHONET 5 .6 software .Results A total of 231 strains of pathogens were isolated from urine cultures ,including 51(22 .1% ) strains of gram‐positive bacteria ,170(73 .6% ) strains of gram‐negative bacteria ,and 10(4 .3% ) strains of fungi;Escherichia coli ,the coagulase‐negative Staphylococcus ,Klebsiella pneumoniae and E .faecalis were ranked the top four species of pathogens ,accounting for 48 .9% ,13 .0% ,9 .5% ,5 .2% ,respectively .MRCNS among CNS were 73 .6% .Staphylococcus had 100 .00% sensitivity to vancomycin and linezolid ;the antimicrobial resistance rate of E .fae‐calis to ampicillin was 8 .3% .E .faecalis had 100 .00% sensitivity to vancomycin and linezolid .the detectable rates of Escherichia co‐li ,Klebsiella pneumoniae of ESBLs were 52 .2% and 50 .0% ,and the strains had 100 .00% sensitivity to imipenem and meropenem . Conclusion Escherichia coli is a major pathogen in urine culture ,Bacterial resistance is serious .

Surveillance of antibiotic resistance in gram-negative bacilli strains collected from Chuzhou First Hospital during 2013 / 中国感染与化疗杂志

Objective To investigate the distribution and antibiotic resistance of gram-negative bacilli for better antimicrobial therapy in our hospital.Methods A retrospective analysis was conducted for the 1 060 strains of gram-negative bacilli isolated from clinical specimens during 2013.Results Of the 1 060 gram-negative bacterial strains isolated during 2013,E.coli,K . pneumoniae,P .aeruginosa and A.baumannii were the leading pathogens,accounting for 29.3%,22.8%,11.5% and 9.9%,respectively.The prevalence of extended spectrum-lactamases (ESBLs)positive strains was 63.7%,32.2% and 28.0% in E.coli,K .pneumoniae and P .mirabilis,respectively.The Enterobacteriaceae strains were highly sensitive to carbapenems.The percentage of the P .aeruginosa isolates resistant to meropenem,imipenem or amikacin was lower than 30%.The percentage of the Acinetobacter spp.(A.baumannii accounted for 70.9%)strains resistant to meropenem and imipenem were 25.0% and 26.2%.Conclusions Most of the gram-negative bacilli are resistant to multiple antimicrobial agents. We should strengthen the monitoring of the antibiotic resistance of gram-negative bacilli and optimize antimicrobial therapy.

Recent advances on bile duct injury after transcatheter arterial chemoembolization for hepatic malignancy / 中华肝胆外科杂志

Transcatheter arterial chemoembolization (TACE) has been widely applied in palliative treatment of unresectable primary and metastatic liver cancer,and its efficiency and safety also have been widely acknowledged.However,there is a wide range of related complications,such as upper gastrointestinal hemorrhage,liver failure,pulmonary embolism,embolic cholecystitis and so on.As a serious complication of TACE,bile duct injury has been reported intermittently since the introduction of hepatic arterial embolization therapy.However,the exact pathogenesis,predisposing factors and clinical implications of the injuries remain to be clarified.As we find,by far there is no literature review about the bile duct injury after TACE for liver malignant tumors both at home and abroad.Thus the purpose of our study was to discuss such current issue of bile duct injury,and 26 articles have been included and analyzed.

FGFR3 gene mutation analysis of achondroplasia and hypochondroplasia families / 临床儿科杂志

Objective To screen the sequence of fibroblast growth factor receptor 3 (FGFR3) genes in children with dys-chondroplasia and their family members for searching the mutations. Methods The sequence of exon 10 and exon 13 in muta-tion hot spot region of FGFR3 gene in seven families was analyzed using polymerase chain reaction (PCR) and DNA sequenc-ing technology. Results The c.1138G>A missense mutation in exon 10 was found in 4 probands who were diagnosed as achon-droplasia (ACH), while this mutation was absent in their parents. The c.1620C>A missense mutation in exon 13 was found in one girl and her mother who both were diagnosed as hypochondroplasia (HCH) with mild symptoms. Neither mutation men-tioned above was found in the other two probands. Conclusions Through detecting the mutation in exon 10, exon 13 of FGFR3 gene, most patients of ACH or HCH can be finally diagnosed. However, it is necessary to perform the mutation screening on the other zones of FGFR3 gene and on other related genes for a few cases.