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：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.

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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.

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

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.

简介：AbstractIntroduction:Numerous dermatoses associated with monoclonal gammopathy have been reported in the literature. Subepidermal autoimmune bullous diseases (SABD) are one of them which were not common.Here we report a case of SABD associated with MGUS who had a severe mucosal involvement and unexpected positive direct Nikolsky phenomenon.Case presentation:A 68-year-old male patient was admitted to our clinic with erosions on the oral mucosa, tense blisters, erosions, and ulcers on the trunk and extremities. Subepidermal vesicle formation was detected in the skin biopsy. Clinical examination revealed positivity for the Nikolsky phenomenon. The disease was unresponsive to conventional treatments and dysphagia and hoarseness occurred. The patient was screened for malignancy due to his unresponsiveness to the treatments and his severe oral mucosal involvement. Ig-G MGUS was detected in the patient.Discussion:The Nikolsky sign is an indicator of acantholysis and is known as a specific finding for pemphigus. However, when we look at gammopathy-associated autoimmune bullous dermatoses, skin fragility has been reported in cases. However, the meaning of fragility is not explained. The diagnosis of all these patients was Ig-M MGUS. Our patient was presented because of non-IgM MGUS, direct Nikolsky positivity, and severe mucosal involvement.Conclusion:Nikolsky positivity may be a clue for gammopathy-related subepidermal autoimmune bullous diseases.

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简介：AbstractIntroduction:Darier’s disease is a rare autosomal dominant skin disorder caused by mutations in ATP2A2. Recently, the high prevalence of neuropsychiatric symptoms is frequently reported in Darier’s disease patients.We present a case of patient with concurrence of Darier’s disease and depression and detected the mutations in ATP2A2.Case presentation:A 29-year-old man presented with a 15-year history of brown, harsh keratotic papules on his scalp, face, neck, trunk, axilla, ingunia and upper limbs. Meanwhile, he had persistent depression. He was diagnosed as Darier’s disease according to clinical manifestations and result of histological examination. We sequenced all coding regions of ATP2A2. The mutation c.2993_2994del (p. Val998Alafs*33) in exon 20 of ATP2A2 was detected.Discussion:Darier’s disease has been associated with several extracutaneous manifestations, in particular neuropsychiatric morbidity. Likely gene disrupting mutations in ATP2A2 was reported to have a close relationship to Darier’s disease cases with reported co-occurring neuropsychiatric features. Consistent with the previous reports, an likely gene disrupting mutations was detected in our patient with concurrence of DD and depression.Conclusion:The psychiatric disorders in patients with Darier’s disease should be well appreciated .The underlying mechanism in correlation between the mutation in ATP2A2 and neuropsychiatric phenotypes in Darier’s disease remain unclarified and warrants further investigation.

简介：AbstractWide-awake local anesthesia has many advantages. We describe a new method to use wide-awake local anesthesia with more flexibility. A 32-year-old man with a severe right-hand contracture after an iatrogenic tourniquet accident during an anterolateral thigh flap for a partial hand amputation underwent contracture release using external fixation after proximal row carpectomy and subsequent tenolysis. We performed most of the tenolysis procedure under general anesthesia and the final stage with an intra-operative assessment of active finger movement and dissection under local anesthesia. He regained his grip strength 2.5 years post-injury. General anesthesia is useful to treat a surgical site with extensive hard scars, whereas local anesthesia is useful for adjusting tension in an awake patient. The indication for wide-awake surgery is yet to be established; our method of combining general and local anesthesia in the tenolysis procedure illustrates the possibilities in expanding this method.

简介：AbstractIt is extremely dangerous to treat the posterior third of the superior sagittal sinus (PTSSS) surgically, since it is usually not completely ligated. In this report, the authors described the case of a 27-year-old man with a ruptured and defective PTSSS caused by an open depressed skull fracture, which was treated by ligation of the PTSSS and the patient achieved a positive recovery. The patient's occiput was hit by a height-limiting rod and was in a mild coma. A CT scan showed an open depressed skull fracture overlying the PTSSS and a diffuse brain swelling. He underwent emergency surgery. When the skull fragments were removed, a 4 cm segment of the superior sagittal sinus (SSS) and the adjacent dura mater were removed together with bone fragments. Haemorrhage occurred and blood pressure dropped. We completed the operation by ligating the severed ends of the fractured sagittal sinus. One month after the operation, apart from visual field defects, he recovered well. In our opinion, in primary hospitals, when patients with severely injured PTSSS cannot sustain a long-time and complicated operation, e.g., the bypass using venous graft, and face life-threatening conditions, ligation of the PTSSS is another option, which may unexpectedly achieve good results.

简介：AbstractIntracapsular fractures of the proximal femur are one of the most common fractures of the lower limbs. Most cases require osteosynthesis with suitable implants, and intraoperative positioning of the patient on the fracture table is a prerequisite to facilitate fracture manipulation, traction, reduction and fluoroscopy assessment. However, positioning the limbs of bilateral above-knee amputees for internal fixation of related proximal femoral fractures is a difficult task, which requires customized inventory for effective limb positioning and fracture manipulation. This study reported a rare case following a crush injury of bilateral lower limb in a road traffic accident, and described some technical tips of acute femoral neck fractures in bilateral above-knee amputation. The patient was managed with immediate guillotine amputation and later secondary wound closure followed by internal fixation of the right-sided femoral neck fracture with multiple cancellous cannulated screws.

简介：AbstractIn the United States, pulmonary embolism (PE) accounts for approximately 10% of all pregnancy related deaths. The standard treatment for a patient with high-risk PE is systemic thrombolysis. Systemic thrombolysis in pregnancy is associated with the risk of maternal hemorrhage and fetal complications, including spontaneous abortion, preterm delivery, and fetal bleeding. Currently, there is limited evidence for a standardized approach for the treatment and management of intermediate-and high-risk PEs in pregnancy. A 36-year-old gravida 3 para 2002 woman at 31+1 weeks of gestation with a history of deep vein thrombosis in her prior pregnancy presented with shortness of breath. A computed tomography angiogram revealed a large pulmonary embolus with a saddle component that extended into the bilateral upper and lower lobes and into the secondary and tertiary pulmonary branches. A subsequent bedside echocardiogram demonstrated a dilated right ventricle with severely reduced right ventricular systolic function. The patient was successfully treated with bilateral ultrasound-assisted catheter-directed thrombolysis. She subsequently delivered a healthy male infant at term. Reported cases of ultrasound-assisted catheter-directed thrombolysis in pregnant patients is limited. Our case demonstrates that localized thrombolysis is a viable treatment option for life-threatening PE in pregnancy. Catheter-directed thrombolysis can be efficacious in treating intermediate-and high-risk PEs in pregnancy while simultaneously reducing the risk of bleeding complications.

简介：AbstractAnagedmalepatientwithcoronaryheartdiseasewhichhadbeentreatedwithcoronaryarterybypassgrafts(CABG)andadministrationofmetoprolol,presentedparoxysmalvertigointhepreviousthreeweeks.The24hourssynchronic12-leaddynamicelectrocardiography(DCG)revealedmanyepisodesofsinusarrestwhichmostlywerefollowedbyA-Vjunctionalorventricularescaperhythm,thelongestsinuspauselastingmorethan14.5secondswithnosymptom.Afterwithdrawalofmetoprolol,theDCGrevealedmuchlessepisodesofsinusarrestthanon-admission,butstillsomeA-Vjunctionalandventricularescapebeats.Sicksinussyndromeswasthendiagnosed,andasynchronousdual-chamberpacemaker(DDDR)wasimplantedtwoweeksafteradmission.

简介：AbstractHolmium laser lithotripsy (HLL) is one of the common surgical methods for urolithiasis. It causes minor surgical trauma, but complications are not rare. Extracorporeal membrane oxygenation (ECMO) treatment of sepsis is common, but venoarterial (VA)-ECMO treatment of urosepsis has not been reported yet. In this article, we reported a 67-year-old female patient with refractory septic shock caused by HLL under percutaneous nephroscope, involving breathing, heart, kidney and other organs, and organs support treatment was ineffective for the patient. Finally, we successfully treated the patient under VA-ECMO with continuous renal replacement therapy (CRRT). Combined ECMO and CRRT may provide a solution for addressing refractory sepsis. Here we present the case and review relevant literature, so as to provide a treatment strategy for patients with refractory urogenic sepsis and to reduce the mortality rate.