A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers: a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. The mutation identified in his blood and buccal cells, c.1771delG, p.Asp591Ilefs*25, appears to be a de novo event, as it was not transmitted by either of his parents. This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far. Furthermore, the discordant results observed between replication error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.     

Catheter-directed thrombolysis in inflammatory bowel diseases: Report of a case

In patients with inflammatory bowel diseases (IBD) the prevalence of thrombosis is 6.2%, the average incidence of thromboembolism (TE) is 3.6 times higher compared to normal population. The TE is a common extraintestinal complication of IBD, squarely associated with the IBD activity. The application of anticoagulant and thrombolytic therapy in severe IBD is an unresolved issue. Herein we report the first case in literature of an active IBD patient with an upper limb acute arterial occlusion and successful catheter-directed thrombolysis (CDT). A 46-year-old male patient is reported who had Crohn’s disease for 10 years. His right hand suddenly became cold and painful. Angiography proved acute occlusion of the brachial and radial artery. Vascular surgery intervention was not applicable. Endoscopy showed extended, severe inflammation of the colon. Despite the severe endoscopic findings, frequent bloody stools and moderate anaemia, CDT with recombinant tissue plasminogen activator was performed. The control angiography proved improvement, the radial artery pulse appeared. No bleeding complication was observed. This case supports that CDT-after careful estimation of the bleeding risk-can be effective and safe in patients with severe or life-threatening TE and active IBD.     

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??The number of patients with chronic kidney disease??CKD?? has increased year by year??had many of them further progress to end-stage renal disease??ESRD????requiring maintenance dialysis or transplantation??which causes huge social burden??so CKD has become a more and more serious public health issue worldwide. Proteinuria and/or albuminuria is the important independent risk factor of CKD??which have close relationship with CKD??and have been the hotspot in research of the pathogenesis??progression and therapy of CKD.     

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??Objective To investigate the antibiotic resistance patterns and epidemiological features of Haemophilus influenzae??HI?? strains??and to provide reference for choosing antibiotics in clinical treatment. Methods A total of 546 strains were identified from 2007 to 2014 in Children’s Hospital??Zhejiang University School of Medicine and 98.7% were isolated from respiratory tract specimens. Three hundred and forty-eight isolates??63.7%?? were from boys and the male-female ratio was 1.76??1. The age of the infected children ranged from 7 days to 13 years. Haemophilus influenza strains were cultured in Haemophilus selective medium. All strains were identified with ?? factor and ?? factor requirement test and the drug-sensitivities tests were performed with disk diffusion method. Cefinase was used to detect β-lactamase. Results Most of the strains??331 isolates??60.6%?? were isolated in spring??while only 23??4.2%?? were isolated in autumn. The β-lactamase positive strains increased annually and the total rate was 26.7%??146???? and 28.0%??153 strains?? were resistant to ampicillin. The multi-resistance strains were 60??11.0%?? and the major multi-resistance type was those resistant to ampicillin??trimethoprim-sulfamethoxazole and clarithromycin at the same time??and the multi-resistance rate in β-lactamase-positive strains were significantly higher than that in β- lactamase- negative strains??χ2??145.1??P??0.005??. Conclusion Most of the Haemophilus influenzae strains are isolated from respiratory samples in children younger than 1 year old in our hospital??and the peak months were February??March??April and May. The resistance rate to ampicillin of HI strains has increased annually??whereas to the second generation of cephalosporin??HI strains are still sensitive and they can be used in clinical treatment as the first choice.     

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??Objective??To investigate the clinical features??diagnosis??treatment and prognosis of eosinophilic cystitis in pediatric population. Methods??The records of four patients who had been diagnosed and treated for eosinophilic cystitis from January 2012 to May 2015 in Shengjing Hospital were retrospectively reviewed. Results??All the four patients were boys whose age ranged from 6 to 8 years. The main symptoms of the 4 cases were frequent micturition??odynuria??dysuria??suprapubic pain and hematuria.All of the 4 cases had significant peripheral eosinophilia and increased bladder wall thickness. All of the patients were diagnosed with biopsy. Bladder interstitial eosinophil infiltration was revealed by histopathology. The clinical symptoms??peripheral eosinophilia and bladder imaging changes were relieved after steroids and antihistamines treatment. Three cases developed recurrence. Total course of oral corticosteroids ranged from 3 months to 18 months. One case remained persistent remission for 2 years??two cases had are recurrence and one case had two recurrences. Conclusion??Bladder biopsy is essential to establishing the diagnosis of eosinophilic cystitis. Patients with peripheral eosinophilia and the increased bladder wall thickness should be considered with eosinophilic cystitis. Steroids is effective as medical therapy for eosinophilic cystitis and close long-term follow-up is necessary.     

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??Objective To investigate the safety and efficacy of application of regional sodium citrate anticoagulation in children with high risk of bleeding in the continuous blood purification??CBP??. Methods A total of 11 patients with severe hepatic dysfunction and severe bleeding due to different diseases were treated with regional sodium citrate anticoagulation during CBP from March 2015 to May 2016. The changes of ACT??serum calcium and arterial blood gas before and after treatment of CBP were monitored??and the clinical bleeding performance and the operation status of the filter were observed. Results??After the application??the ACT value after the filter during the treatment with regional citrate was significantly longer than the ACT value before the filter??before the filter??the ACT values before treatment and after treatment had no significant changes. During the treatment??the value of calcium ions after the filter was significantly lower than the value before the filter??and the value of 2 cases after the filter was once lower than 0.2 mmol/L??then was corrected by slowing down the citrate solution dripping. Before the filter??the values of calcium level in 8 cases had no significant changes before the treatment and during treatment. All cases completed CBP treatment successfully withould severe bleeding or aggrevation of bleeding. Conclusion The clinical effect of regional sodium citrate anticoagulation in pediatric critical ill patients with CBP is effective. It has the advantages of less influence on the systemic coagulation and higher safety. It is suitable for the children with hepatic dysfunction??severe bleeding or who are not suitable for heparin anticoagulation. It is an effective and feasible??safe anticoagulation method in critical ill children with CBP.     

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??Objective To understand the trend of inhaled allergen positive rate among 0-12-year-old children from 2006 to 2013 in Chongqing Children’s Hospital??and to provide evidence for preventing allergic rhinitis in children. Methods??All cases were collected from Otorhinolaryngological Department of the Children’s Hospital of Chongqing Medical University from 1st January??2006 to 29th October??2013. Totally 10983 children with allergic rhinitis aged 0-12 years old in Chongqing urban districts were enrolled. All the patients underwent skin prick test??SPT?? with 13 standardized common inhalant allergens. Then the children were divided into the infants group??aged??3 years????preschool children??3 years≤aged??7 years?? and school-age children??7 years≤aged??12 years?? according to age. The trend of inhaled allergen positive rate over 8 years was observed. Results From 2006 to 2013??the SPT positive rate increased sharply??then tended to be stable??and then decreased slowly??Curve Estimation??R 2??0.836??adjustment R 2??0.770. ANOVA test??F??12.727??P??0.011??. It may be related to meteorological factors. With the growth of age??the positive rates of Dermatophagoides pteronyssinus??Dermatophagus farinae??Blomia tropicalis??Cockroaches??cat fur??dog fur and mugwort increased??which were 121.200??123.060??103.237??104.784??17.042??8.515 and 11.256??respectively????P was 0.000??0.000??0.000??0.000??0.000??0.014 and 0.004??respectively??. Conclusion ??Meteorological factors and age may have effects on allergic rhinitis??AR?? in children??with the growth of age??the positive rates of inhaled allergens have tendency variation.     

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??Objective To investigate the clinical characteristics and treatment of hypereosinophilic syndrome??HES?? in children. Methods The clinical manifestations?? laboratory examinations??gastroscopy and imaging features??pathological results and therapy experience in 13 HES children admitted in Beijing Children’s Hospital??Capital Medical University from January 2009 to February 2016 and related literatures were analyzed retrospectively. Results Of the 13 patients evaluated?? 7 were male??54%?? and 6 were female??46%??. The median age at diagnosis was 9.6 years old??ranging 3 to 14 years old??. The median course of disease was 23 months??ranging 1 to 72 months??. The peripheral eosionophil counts ranged ??4.5—29.2??×109/L??mean 13.5×109/L??. Gastrointestinal tract was the most commonly involved organ?? and was reported in 92%??12/13?? of patients. It was followed in frequency by urinary system??84%????pulmonary??53%????cardiac??23%????and skin??8%?? and liver??8%??. A total of 2 sites were involved in 6 patients??3 sites were involved in 5 patients and 4 sites were involved in 2 patients. Treatment of oral prednisone therapy was given and follow-up of 10 patients had no clinical symptoms??2 patients had stopped prednisone??. But eosionophil counts still increased to varying degrees. Three patients were lost to follow-up. Conclusion HES in children is more common in school age and adolescent children. Gastrointestinal tract??urinary system and pulmonary involvement are more common. Glucocorticoid treatment is effective??which requires to be maintained in small dose in the long term.     

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??The true incidence of fulminant hepatic failure in the pediatric population is unknown?? though fulminant hepatic failure is a rare but devastating syndrome??such as hepatic encephalopathy??DIC??MODS?? that results in the death of most children affected. The mainstay of the treatment is liver transplantation??however?? organ shortage limits its use.The purpose of this review is to introduce the current situation of fulminant liver failure in children??focusing on assessing the application of artificial liver??which is considered to play a pivotal role in the treatment of fulminant liver failure.According to its classification??we mainly discussed the application of non-biological artificial liver?? including its indications??advantages and disadvantages??especially the MARS. At present?? the artificial liver treatment also faces many problems. None of the ELS techniques has yet been evaluated systematically in children??and survival benefits have not yet been demonstrated.