简介：Leftbundlebranchblock(LBBB),traditionallyviewedasanelectrophysiologicabnormality,isincreasinglyrecognizedforitseffectsonhemodynamicsandpatient’sprognosis[1].Exercisenuclearstudiesfrequentlyshowreversibleperfusiondefectsintheabsenceofobstructivecoronaryarterydisease[2]andsomepatientswithintermittentLBBBdevelopanginacoincidentwiththeonsetofLBBB[3].WereportacaseofintermittentLBBBwithabnormalstresstechnetium99mTcsingle-photonemissioncomputedtomography(SPECT)studyandnormalcoronaryarteryangiography.

简介：AbstractBackground:Basilar invagination (BI) with atlantoaxial dislocation (AAD) is not uncommon in patients with scoliosis, Klippel-Feil syndrome (KFS), and other bone deformities. Cases with combinations of the abovementioned dislocations and deformities with posterior cranial fossa teratoma are rare in the clinic and difficult to handle.Case presentation:This case presents a 34-year-old woman diagnosed with atlantoaxial dislocation and posterior cranial fossa mass. After two surgeries, the posterior cranial teratoma was completely removed with satisfactory atlantoaxial reduction. The postoperative 1-year follow-up examination showed that the bone graft fusion was successful, without remaining significant dysfunction.Conclusions:The surgical risk of irreducible atlantoaxial dislocation combined with posterior cranial fossa tumor is huge. Thus, it needs to be fully preoperatively evaluated and managed carefully in accordance with sound surgical principles.

简介：AbstractIatrogenic femoral artery pseudoaneurysm is a common complication of the endovascular procedures. Manual compression and thrombin injection are the conventional techniques to occlude the pseudoaneurysms. However, there are still some failed cases that applied these treatment options. The aim of the study is to seek a potential and alternative method with ProGlide system to close the pseudoaneurysm. During April 2018 to February 2019, 2 patients with iatrogenic pseudoaneurysm of the superficial femoral were treated with the suture-base closure device-ProGlide. After punctured the pseudoaneurysm and placed a 6-F sheath, the guide wire was placed in the right femoral artery via the access of the pseudoaneurysm neck. Then the pseudoaneurysm neck was sutured by ProGlide to occlude the blood supply to the pseudoaneurysm. These 2 patients were cured with no complications and complaints, which revealed that percutaneous suture technique with ProGlide at the neck level of pseudoaneurysm provides a novel method for the management of vascular access pseudoaneurysm, especially in those with a wide and short neck.

简介：BackgroundAnomalousoriginoftheleftcoronaryarteryfromthepulmonaryartery(ALCAPA)isararecongenitalanomaly.Itdemonstratedthecombinedeffectsoftheabsenceofanormalcoronaryflowwithacoronarystealandtheprofoundischemiathatcanproduceleftventriculardysfunctionandmitralregurgitation.Wehereintroducethepostoperativemanagementofpatientswithrepairofanomalousoriginoftheleftcoronaryarteryfromthepulmonaryartery,withanemphasisonitsoutcome.MethodsRecordsof31patientswithanomalousoriginoftheleftcoronaryarteryfromthepulmonaryarteryreceivingsurgeryfrom1998to2010werereviewedretrospectively,10ofwhichweretreatedwiththemitralvalvesurgicallyatthesametime.Theageofpatientswas4monthsto16years(median,1year)andweightofthosewas5to53kilograms(median,7.8kilograms),allofwhichwerediagnosedofanomalousoriginoftheleftcoronaryarteryfromthepulmonarybyechocardiographyandcardiaccatheterization.Aftersurgery,electrocardiogram,echocardiography,arterialbloodpressure,transcutaneousoxygensaturationandcentralvenouspressureweremonitored.Commonpostoperativecomplicationsinourgroupwereanalysed.Andpreoperativeandpostoperativedataincludingareaofmitralregurgitation,leftventricularsystolicdiameterandleftventriculardistolicdiameterwereobtained.Cardiopulmonarybypasstimeandmechanicalventilationtimeofpostoperativepatientswithnopneumoniawerecomparedwiththosewithpneumonia.Binarylogisticregressionwasappliedfortheanalysisoftheriskfactorsofpostoperativepneumonia.ResultsOf31patients,30survivedaftersurgerywithearlymortalityof3.23%.Onepatientdiedofseverelowcardiacoutputsyndrome.Mechanicalventilationtimewas4hoursto168hourshours(mean,39.68±50.52hours;median,18hours).ICUstaywas16hoursto425hours(mean,111.65±127.03hours;median,44hours).Inourgroup,commonpostoperativecomplicationsweremyocardialischemia(n=12,36.4%),infection(n=

简介：AbstractIntroduction:The gap junction beta 6 (GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions. Disease-associated variants of GJB6 cause non-syndromic hearing loss (HL) and skin lesions.We herein describe a Turkish girl who was diagnosed with HL and in whom genetic analysis revealed a causal variant of GJB6.Case presentation:The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month old. Apart from this, the patient’s motor/mental development and physical examination were normal. As a result of the analysis with the multi-gene panel, the causative genomic change, c.175G>A(p.Gly59Arg) in the GJB6 gene was determined as heterozygous. Segregation analysis proved the same genotype in the patient’s mother and grandfather. The patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis phenotype. The patient was diagnosed with Clouston syndrome, and genetic counseling was provided to her family.Discussion:Causal variants of GJB6 cause skin manifestations and signs of HL. Molecular diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical management.Conclusion:In syndromic cases in which many organs are affected, the determination of the causative gene is important in directing the patients to appropriate observation, screening, and treatment strategies.

简介：AbstractIntroduction:Primary central nervous system lymphoma (PCNSL) is extremely rare in pediatric population. We reported a case of PCNSL in a 3-year-old girl and reviewed the literature in the past three decades.Case presentation:A 3-year-old girl presented with gait disturbance. A contrast-enhanced magnetic resonance image of the brain showed a solitary bulky mass in the left cerebellar hemisphere, hydrocephalus and cerebellar tonsillar hernia. Surgical resection was performed and the patient was diagnosed with primary central nervous system lymphoblastic B cell lymphoma. Then the patient received regular chemotherapy, including 6 cycles of chemotherapy containing high-dose methotrexate (HD-MTX). The patient remains alive 15 months after the diagnosis with no evidence of active disease, but suffered twice chronic subdural hematoma, which was treated by burr hole drainage.Conclusion:Lymphoblastic B cell lymphoma is a rare histologic subtype of pediatric PCNSL. Chemotherapy containing HD-MTX remains the most effective treatment. The patient should avoid head impact after surgical resection of the tumor to prevent chronic subdural hematoma.

简介：AbstractWe reported two cases of jockeys who sustained fracture/dislocation of the mid-thoracic spine due to traumatic falls during horse racing. We examined the injury mechanism based upon the patients’ diagnostic images and video footage of races, in which the accidents occurred. Admission imaging of patient 1 (a 42 years old male) revealed T5 burst fracture with bony retropulsion of 7 mm causing complete paralysis below T5/6. There existed 22° focal kyphosis at T5/6, anterolisthesis of T5 relative to T6, T5/6 disc herniation, cord edema and epidural hemorrhage from T4 through T6, and cord injury from C3 through C6. Admission imaging of patient 2 (a 23 years old male) revealed T4/5 fracture/dislocation causing incomplete paralysis below spinal level. There existed compression fractures at T5, T6, and T7; 4 mm anterior subluxation of T4 on T5; diffuse cord swelling from T3 through T5; comminuted fracture of the C1 right lateral mass; right frontal traumatic subarachnoid hemorrhage; and extensive diffuse axonal injury. The injuries were caused by high energy flexion-compression of the mid-thoracic spine with a flexed posture upon impact. Our results suggest that substantially greater cord compression occurred transiently during trauma as compared to that documented from admission imaging. Video footage of the accidents indicated that the spine buckled and failed due to abrupt pocketing and deceleration of the head, neck and shoulders upon impact with the ground combined with continued forward and downward momentum of the torso and lower extremities. While a similar mechanism is well known to cause fracture/dislocation of the cervical spine, it is less common and less understood for mid-thoracic spine injuries. Our study provides insight into the etiology of fracture/dislocation patterns of the mid-thoracic spine due to falls during horse racing.

简介：Objective:Toreportascalatympanidrill-outtechniqueformanagingmalformedfacialnervecoveringtheentireovalwindow(OW).Methods:DatafromthreecaseswithOWatresia,malformedstapesandabnormalfacialnervecourseswerereported,inwhichascalatympanidrill-outtechniquewasemployedwithaTORPbetweenthetympanicmembraneandscalatympanifenestrationforhearingreconstruction.Results:Airconductionhearingimprovedintwoofthethreecasesfollowingsurgery.Inthethirdcase,therewasnoimprovementinairconductionhearingfollowingacanalwallupmastoidectomyandtympanoplasty.Therewerenovertigo,tinnitusorsensorineuralhearinglossinthethreecases.Conclusion:Thescalatympanidrill-outtechnique,whichisbasicallyfenestrationattheinitialpartofthebasalturn,providesachoiceinhearingreconstructionwhentheOWiscompletelycoveredbyabarrentlycoursedfacialnerve.

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简介：AbstractTotal elbow arthroplasty as a treatment option for open elbow fracture is relatively rare described. We reported a 39 years old polytrauma patient with complex open elbow fracture (Gustilo-Anderson type IIIB). The patient presented with large soft tissues defect on dorsal part of the left elbow, ulnar palsy due to the irreparable loss of the ulnar nerve, distal triceps loss due to the complete loss of the olecranon, loss of both humeral condyles with collateral ligaments and complex elbow instability. Only few similar cases have been published. Reconstructive surgery included repetitive radical debridement, irrigation, vacuum assisted closure system therapy, external fixation, coverage of the soft tissue defect with fascia-cutaneous flap from the forearm. Four months after the injury, total elbow arthroplasty with autologous bone graft (from the proximal radius) inserted in the ulnar component, was performed. At 3 years postoperatively, the patient is able to perform an active flexion from 0° to 110° with full pronosupination. Only passive extension is allowed. The ulnar neuropathy is persistent. Patient has no signs of infection or loosening of the prosthesis.

简介：Thepatient,achildsurnamedXie,male,was2yearsoldwithHartnationality,hisadmissionNo.is2001426.At10:00am,June,8th,2000,afteraccidentallytakingonemouthfuloflong-actingphosphorus(about5ml),hebecamecomatosewithfoamatthemouth.Afterfindingthissituation,hisparentssenthimtotheclinicoftheirtmit.Emeticeliminationoftoxicantwasgivenbutfailedthere.Thenat11:00thesameday,hewassenttoourhospitalforemergencytreatment.Physicalexaminationon

简介：TheannualmeetingoftheHeartFailureAssociationofESCinLisbon,inJune2005,wasexceptionallysuccessful.Thereweremanyveryinterestingpresentationsandworkshopswiththeuniquetitle:StatinsinheartfailureCholesterol-loweringisnottheonlygoalHeartfailure(HF)isaprogressivediseasewithcoronaryarterydisease(CAD)asthemostoftenunderlyingetiology.TreatmenttopreventprogressionofheartfailurehasbeentargetedtoreversetheconsequencesofHFandtoalessextentthecause-theatheroscleroticplaqueitself.Ontheaverage50%ofpatientswithheartfailurearetreatedwithlipidintervention.Lipid-loweringtreatmentwithstatinsclearlyreducesmorbidityandmortalityofpatientswithdocumentedCAD.SincetheprevalentetiologyofheartfailureisCAD,itspreventionmayreduceheartfailureprogression.However,recentstudiessuggestthatpleiotropiceffectsofstatinsaremoreimportantthantheinfluencerelatedtotheircholesterolloweringmechanism.Furthermoreitissuggestedthatlowlevelsofcirculatinglipoproteinsandcholesterolmaybeindependentpredictorsofimpairedoutcomeinpatientswithheartfailure.Therearesomepossibleexplanationsforthisfinding.Highlevelsofcholesterolcanbebeneficialtoheartfailurepatients;cholesterol-richserumlipoproteinsareabletomodulateinflammatoryimmunefunctionbecausetheybindanddetoxifybacteriallipopolysaccharide,averystrongstimulatorofthereleaseofproinflammatorycytokinesthatpromoteheartfailureprogressionanddeath.SocurrentrecommendationsstronglyemphasizethattheaimoftreatmentofHFisnottolowercholesterol.

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简介：Complicationsaremorefrequentinelderlypatientswithcoronaryheartdisease(CHD),suchasimpairedglucosetoleranceandconstipations.Itisalwaysdifficulttocurethesecomplicationsinclinicalpractice.Inthiscasewehadsuccessfullycuredaneighty-threeyearsoldmanwithCHDcomplicatingimpairedglucosetoleranceandconstipationbyintegratedChinese-Westernmedicine.

简介：AbstractHepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients with PhK deficiency may get glycogen storage disease (GSD) type-IXa, an X-linked liver glycogenosis disease. To inform genetic counseling in a family with two affected GSD brothers, we performed a genetic analysis. The GSD in the older brother was confirmed by histological examination of a liver biopsy, which showed glycogen accumulation in liver cells. A liver biopsy was not available from the younger brother. The two patients and their parents were analyzed by whole exome sequencing. A pathogenic mutation in a gene encoding a regulatory subunit of PhK, PHKA2 located on chromosome Xp22, was identified as c.G3373A (p.E1125K) and confirmed by Sanger sequencing. The proband’s maternal grandparents and the brothers and sisters of the proband’s maternal grandfather were physically examined and genetically tested by Sanger sequencing. Pedigree analysis showed that the mother was a carrier and that the two patients inherited the mutation from their undiagnosed maternal grandfather. Moreover, among the maternal grandfather and four granduncles, three of them possessed the same mutation and four suffered from fatty liver. This is the first report of this mutation causing X-linked liver glycogenosis in a Chinese family and shows that GSD IXa is a mild form of glycogenosis in terms of clinical symptoms, indicating that GSD may be undiagnosed or underestimated. Nevertheless, to provide appropriate intervention and genetic counseling, early identification of the genetic cause is imperative. This study was approved by the Ethics Committee of First Affiliated Hospital, Hunan University of Chinese Medicine (approval No. HN-LL-ZFKY-2018-001-01) on January 12, 2018.

简介：AbstractIntroduction:Celiac disease typically presents with symptoms of malabsorption, but extraintestinal manifestations are increasingly reported. Aplastic anemia as the mode of celiac disease presentation is extremely rare in children.Case presentation:We report a 2-year-old boy who presented with loose stools, loss of appetite, and bicytopenia with severe aregenerative normocytic anemia. Investigations, including bone marrow aspirate and biopsy, revealed aplastic anemia. Screening for malabsorption showed increased plasma concentrations of anti-transglutaminase and anti-gliadin antibodies. A duodenal biopsy confirmed the histologic features of celiac disease. The child received a packed red cell transfusion and was started on a gluten-free diet, with a very good prognosis and normalization of both his blood and histological parameters. To the best of our knowledge, our report is the sixth pediatric case in the literature.Conclusion:Screening for celiac disease should be performed in children with unexplained hematological abnormalities such as aplastic anemia with or without gastrointestinal symptoms.

简介：AbstractIndirect effects of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic are difficult to calculate. Fear of intrahospital infection has led to a decrease in the use of emergency services and the performance of elective procedures. Several low- and middle-income countries have seen the number of institutional deliveries reduced, even in the absence of a follow-up program for home births. We present the case of a patient with adequate prenatal care and an institutional delivery plan who, due to the SARS-CoV-2 pandemic, chose to have a home delivery with unsafe conditions. The lack of supervision by health personnel and the absence of an immediate consultation plan facilitated the presentation of postpartum hemorrhage and poor neonatal results. Little attention has been paid during the pandemic to pregnant women who decide to have their birth at home. A broad discussion is necessary in this regard, to regain the confidence of the population and strengthen institutional births, or to strengthen midwife-assisted home births programs. Patients’ fear to acquiring SARS-CoV-2 infection inside hospitals is a factor that must be taken into account in prenatal care programs.