We report an acute myocardial infarction patient with respiratory cardiac arrest in whom conventional cardiopulmonary resuscitation was invalid and extracorporeal cardiopulmonary resuscitation (ECMO) was performed. During ECMO, bloodstream infections caused septic shock. With the assistance of ultrasound and other techniques, cardiac function and volume status were evaluated, which provided a basis for making rational clinical decision. After shock resuscitation and anti-infection treatment, the patient's condition improved.

Objective

To investigate the diagnosis and treatment experience of acute graftversus-host disease （aGVHD） after liver transplantation.

Methods

Clinical data of 4 patients with aGVHD after liver transplantation admitted to the 900^th Hospital from January 2000 to January 2022 were retrospectively analyzed. The informed consents of all patients were obtained and the local ethical committee approval was received. Among them，3 patients were male and 1 female，aged 67，59，50 and 51 years，respectively. Classical orthotopic liver transplantation was performed in 4 cases. Bile drainage tube and gastroenteric nutritional tube were routinely placed during the surgery. The immunosuppressant regimen was methylprednisolone + tacrolimus + mycophenolate mofetil. The diagnosis and treatment experience of aGVHD after liver transplantation was summarized and analyzed.

Results

The incidence of aGVHD after liver transplantation was 0.6%（4/650）. The onset time of aGVHD was 12.0-21.0 d after surgery，with a median time of 16.5 d. Clinical characteristics of aGVHD after liver transplantation were as follows:（1） The onset time was 2-4 weeks after liver transplantation；（2） Typical clinical manifestations included fever，rash，diarrhea and pancytopenia；（3） Typical pathological manifestations of skin biopsy，epidermal reticular hyperkeratosis+，dyskeratosis of colloid bodies+，vacuolar degeneration of basal layer+++，vacuolar interfacial dermatitis++，and formation of epidermal cracks；dermal pigment incontinence+，superficial perivascular inflammation+. Inflammatory cell composition: lymphocytes+ and monocytes+. Steroid hormone shock therapy was adopted，and then decreased to 20 mg oral maintenance therapy. Attention was paid to adjusting the immunosuppressant dosage. Infection and gastrointestinal bleeding were prevented.4 cases had normal transplanted liver function during the onset，1 case obtained alleviated clinical symptoms and normal myelogram after treatment. The remission rate of aGVHD was 1/4. 4 patients died within 7.0-41.0 d after onset，with a median survival time of 17.8 d. The mortality rate reached 4/4，including 1 case of gastrointestinal bleeding，1 case of cerebral hemorrhage and 2 cases of multiple organ failure.

Conclusions

The incidence rate of aGVHD is low，whereas the mortality rate is extremely high after liver transplantation. The diagnosis relies on typical clinical manifestations and pathological examination.At present，there is no unified and effective treatment regimen. Hormone shock，reducing or terminating the dosage of immunosuppressants and preventing infection may be effective treatment methods.

Objective

To investigate the clinicopathological characteristics，diagnosis，treatment and prognosis of Epstein-Barr （EB） virus-associated cholangiocarcinoma.

Methods

Clinical data of one patient with EB virus-associated cholangiocarcinoma complicated with multiple metastases admitted to Sun Yat-sen Memorial Hospital of Sun Yat-sen University in November 2022 were retrospectively analyzed.The 74-year-old male patient was admitted to our hospital due to "epigastric discomfort for more than one month" and underwent biopsy，confirming the diagnosis of EB virus-associated cholangiocarcinoma.He received 4 cycles of TACE combined with paclitaxel + camrelizumab + fluorouracil + gemcitabine chemotherapy. The informed consents of the patient was obtained and the local ethical committee approval was received. Studies related to "EB virus-associated cholangiocarcinoma" were searched from Wanfang Data，CNKI and PubMed from the inception date of databases until May 31，2023.

Results

A total of 21 articles were included. A total of 71 patients with EB virus-associated cholangiocarcinoma were searched，24 male and 47 female，including 45 cases aged＞ 50 years，and 26 cases aged＜50 years. The lesions were located in the left lobe of 28 patients and in the right lobe of 31 cases. 27 cases were infected with HBV，1 case with HCV and 12 cases with EB virus. AFP levels were increased in 2 cases and CA19-9 levels were elevated in 12 cases. 2 cases were complicated with liver cirrhosis and 7 cases with distant metastases.47 cases had single lesion without distant lymph node metastasis. 12 cases developed intrahepatic metastases，some of them had distant lymph node metastases. Among the three pathological subtypes of EB virus-associated cholangiocarcinoma，intrahepatic lymphoepithelioma-like cholangiocarcinoma（LELCC） is the dominant type，accounting for 68% （48/71），lymphoepithelioma-like hepatocellular carcinomas （LEL-HCC） accounted for 18% （13/71），lymphoepithelioma-like carcinoma （LELC） accounted for 14% （10/71），respectively. Approximately 87% （62/71） of the patients were distributed in the southeast coastal provinces，and only 13% （9/71） were distributed in Beijing，Sichuan and Hubei provinces.59 cases underwent surgical resection，1 case received PD-1 immunotherapy，1 case received radiofrequency ablation，and no specific treatment was described in 6 cases，respectively. Follow-up duration was ranged from 1 to 128 months. 59 patients were followed up. Among them，36 cases achieved tumor-free survival，10 cases survived with tumors，1 case underwent surgery after recurrence，and 12 cases died from tumors，respectively. At present，the patient in this report still survives with tumors.

Conclusions

EB virus-associated cholangiocarcinoma，as a rare subtype of cholangiocarcinoma，has completely different clinicopathological characteristics and prognosis. Upon the first admission，the lesion is mainly single. LELCC is the dominant pathological type. Regional distribution is highly different，with a high prevalence in the southeast coastal region. It yields better prognosis than common cholangiocarcinoma.

Objective

To investigate clinical features and genetic variation characteristics of three probands with Rubinstein-Taybi syndrome （RSTS）.

Methods

From June 2021 to January 2023，three RSTS probands （probands 1-3）in Xi'an Children's Hospital were selected into this study.The clinical data of 3 probands and their family members were collected.The pathogenic genes of probands were analyzed by whole exon sequencing （WES），and the suspicious gene mutations were verified by Sanger sequencing，real time quantitative polymerase chain reaction （RT-qPCR）and the three-dimensional structure prediction of proteins.The related literature of RSTS caused by mutation of CREBBP gene in domestic and foreign databases was searched，and the clinical characteristics and gene variation of 3 probands were analyzed.The procedure followed in this study conforms to the standards formulated by the Ethics Committee of Xi'an Children's Hospital and has been approved by the Ethics Committee （Approval No，20220019）.Informed consents were obtained from all guardians of the proband of RSTS.

Results

Three probands （probands 1-3）had the typical characteristics of RSTS，namely，typical abnormal face，wide thumb/toe deformity，mild to moderate mental retardation or developmental retardation.Gene analysis showed that proband 1 carried repeated mutation of exon 3-19 of CREBBP gene and homozygous mutation of GJB2 gene c.109G＞A（p.Val37Ile）.Proband 2 and proband 3 carried new heterozygous variations of CREBBP gene c.5384G＞T（p.Cys1795Phe）and c.1409T＞A（p.Leu470*），respectively.These mutations had not been reported in HGMD and Clin Var databases.Combined with the clinical phenotype and gene analysis results of the probands，the three probands were caused by CREBBP gene mutation.

Conclusions

RSTS is a neurodevelopmental disorder，with type 1 of RSTS being the most common form，caused by mutations in the CREBBP gene.Its main features include distinctive facial deformities，enlarged thumbs and toes deformity，and intellectual impairment.Early detection through clinical assessment and WES can provide a molecular basis for diagnosis and aid in prenatal diagnosis for future pregnancies.

Objective

To explore the clinical characteristics，and diagnosis and treatment strategy of pediatric Behcet's disease complicated with intestinal pseudopolyps.

Methods

Two children （patient 1，2）with Behcet's disease complicated with intestinal pseudopolyps admitted to the Children's Hospital Affiliated to Capital Institute of Pediatrics and the Second Hospital of Hebei Medical University from January 2017 to January 2024 were selected as the study subjects.Retrospective analysis method was used to analyze the clinical data of 2 children with Behcet's disease.And search for relevant literature on Behcet's disease combined with intestinal pseudopolyps in domestic and foreign databases for literature review.This study was approved by the Ethics Committee of the Second Hospital of Hebei Medical University （Approval No.2023-R114），and the guardians informed and agreed to the diagnosis and treatment of the patients，and signed a clinical study informed consent form.

Results

①Patient 1：a 6-year-old female with recurrent oral ulcers，intermittent fever，and eye ulcers，accompanied by nodular erythema.Multiple ulcers were found in the pharynx during gastroscopy，and ileal ulcers during colonoscopy.Therefore，the diagnosis of Behcet's disease was made，and patient 1 was given oral methylprednisolone，thalidomide，and sulfasalazine.After getting better，during the regular reduction of methylprednisolone，the condition of illness recurred multiple times and multiple immunosuppressive agents were used for treatment.After the first admission for 3.5 years，a follow-up colonoscopy revealed multiple inflammatory polyps in the ileocecal and ascending colon.②Patient 2：a 6-years-old male with main clinical manifestations of intermittent fever，abdominal pain，and gastrointestinal perforation.After undergoing intestinal resection and anastomosis，glucocorticoids therapy was administered.Afterwards，patient 2 had recurrent oral ulcers and skin erythema，and colonoscopy showed ulcerative lesions，then confirming the diagnosis of Behcet's disease.Administer glucocorticoids，recombinant human tumor necrosis factor-αreceptorⅡ：IgG Fc fusion protein for injection（rh TNFR：Fc），and cyclosporine treatments，and the condition recurred multiple times during regular follow-up.5.3 years after the first admission，colonoscopy result of patient 2 showed ulcerative and proliferative protrusions in the ileocecal region，as well as the formation of inflammatory polyps.③Literature review results：a literature report of one child （patient 3）with Behcet's disease complicated with perianal polyps was retrieved in the Pub Med database.Patient 3 was a 12-year-old male with main clinical manifestations of oral ulcers，perianal pain，and penile ulcers.Ulcers and polypoid lesions were seen in the perianal area，and local histopathological biopsy results of the perianal area shows non-specific inflammation.After systemic glucocorticoids treatment，the perianal ulcer heals.

Conclusions

Severe inflammation and repeated stimulation are the main causes of Behcet's disease combined with intestinal pseudopolyps.The key point of clinical treatment for this kind of children is to control the recurrence of Behcet's disease and strengthen follow-up.

Perianal endometriosis is a special type of endometriosis，and its pathogenesis is currently unclear. It is most commonly found in the pelvic cavity，and reports related to the perianal region are relatively rare.This disease is often accompanied by a history of childbirth or gynecological surgery，and the typical symptom is perianal periodic pain closely related to menstruation. Surgery is currently the main treatment method.