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Peutz-Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are â¼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems. Due to repeated hospitalization and endoscopic follow-up, PJS patients and their families suffer from great physical and mental pain and economic burden. With the in-depth understanding of PJS and the development and popularization of endoscopic techniques in the past decade, an integrated treatment modality based on endoscopy plus surgery has gradually become the preferred treatment in most hospitals, which greatly improves the quality of life of PJS patients. However, there is still a lack of effective drug prevention and cure means. In this paper, the current clinical treatment means for PJS polyps were summarized by literature review combined with the treatment experience of our medical center, with a focus on their clinical diagnosis, treatment, and cancer risk.
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BACKGROUND: Although adjuvant chemotherapy (ACT) is widely used to treat patients with Stage II/III colorectal cancer (CRC), administering ACT to specific patients remains a challenge. The decision to ACT requires an accurate assessment of recurrence risk and absolute treatment benefit. However, the traditional TNM staging system does not accurately assess a patient's individual risk of recurrence. METHODS: To identify recurrence risk-related genetic factors for Stage II/III CRC patients after radical surgery, we conducted an analysis of whole-exome sequencing of 47 patients with Stage II/III CRC who underwent radical surgery at five institutions. Patients were grouped into non-recurrence group (NR, n = 24, recurrence-free survival [RFS] > 5 years) and recurrence group (R, n = 23, RFS <2 years). The TCGA-COAD/READ cohort was employed as the validation dataset. RESULTS: A recurrence-predictive model (G8plus score) based on eight gene (CUL9, PCDHA12, HECTD3, DCX, SMARCA2, FAM193A, AATK, and SORCS2) mutations and tumor mutation burden/microsatellite instability (TMB/MSI) status was constructed, with 97.87% accuracy in our data and 100% negative predictive value in the TCGA-COAD/READ cohort. For the TCGA-COAD/READ cohort, the G8plus-high group had better RFS (HR = 0.22, p = 0.024); the G8plus-high tumors had significantly more infiltrated immune cell types, higher tertiary lymphoid structure signature scores, and higher immunological signature scores. The G8plus score was also a predict biomarker for immunotherapeutic in advanced CRC in the PUCH cohort. CONCLUSIONS: In conclusion, the G8plus score is a powerful biomarker for predicting the risk of recurrence in patients with stage II/III CRC. It can be used to stratify patients who benefit from ACT and immunotherapy.
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Neoplasias Colorretais , Instabilidade de Microssatélites , Humanos , Prognóstico , Neoplasias Colorretais/terapia , Neoplasias Colorretais/tratamento farmacológico , Estadiamento de Neoplasias , Biomarcadores Tumorais/genéticaRESUMO
Tumor imaging represents an ideal environment for collecting novel biomarkers from different technologies, as patients with tumors often undergo multiple imaging studies.With the aging of the Chinese population, the number of elderly patients with gastric cancer is also increasing. In the past, patients with gastric cancer in the elderly have been conservative in whether surgical treatment can be performed, and advanced age is regarded as a relative contraindication to the effect of surgical treatment on gastric cancer patients. To investigate the clinical characteristics of patients with upper gastrointestinal hemorrhage complicated by deep vein thrombosis in elderly patients with gastric cancer. One patient with upper gastrointestinal hemorrhage complicated by deep venous thrombosis, and elderly gastric cancer patients admitted to our hospital on 11 October 2020, were selected. After anti-shock symptomatic support, filter placement, prevention and treatment of thrombosis, gastric cancer eradication, anticoagulation, immune regulation, etc. Treatment and long-term follow-up observation. Long-term follow-up showed that the patient's condition was stable, there was no sign of metastasis or recurrence after radical gastrectomy for gastric cancer, and there were no serious pre- and post-operative complications such as upper gastrointestinal bleeding and deep vein thrombosis, and the prognosis was satisfactory. How to choose the appropriate operation timing and method for elderly gastric cancer patients with upper gastrointestinal bleeding and deep vein thrombosis at the same time to maximize benefits, clinical experience in this area is particularly valuable.
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BACKGROUND: The multidisciplinary team (MDT) has been carried out in many large hospitals now. However, given the costs of time and money and with little strong evidence of MDT effectiveness being reported, critiques of MDTs persist. AIM: To evaluate the effects of MDTs on patients with synchronous colorectal liver metastases and share our opinion on management of synchronous colorectal liver metastases. METHODS: In this study we collected clinical data of patients with synchronous colorectal liver metastases from February 2014 to February 2017 in the Chinese People's Liberation Army General Hospital and subsequently divided them into an MDT+ group and an MDT- group. In total, 93 patients in MDT+ group and 169 patients in MDT- group were included totally. RESULTS: Statistical increases in the rate of chest computed tomography examination (P = 0.001), abdomen magnetic resonance imaging examination (P = 0.000), and preoperative image staging (P = 0.0000) were observed in patients in MDT+ group. Additionally, the proportion of patients receiving chemotherapy (P = 0.019) and curative resection (P = 0.042) was also higher in MDT+ group. Multivariable analysis showed that the population of patients assessed by MDT meetings had higher 1-year [hazard ratio (HR) = 0.608, 95% confidence interval (CI): 0.398-0.931, P = 0.022] and 5-year (HR = 0.694, 95%CI: 0.515-0.937, P = 0.017) overall survival. CONCLUSION: These results proved that MDT management did bring patients with synchronous colorectal liver metastases more opportunities for comprehensive examination and treatment, resulting in better outcomes.
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BACKGROUND: Programmed death 1 (PD-1) and CD4+CD25+FoxP3+ expression in peripheral blood T-cells has been previously reported in various types of cancer. However, the specific variation tendency during surgery and chemotherapy, as well as their relationship in gastric cancer patients, still remain unclear. Understanding this aspect may provide some novel insights for future studies on tumor recurrence and tumor immune escape, and also serve as a reference for determining the optimal timing and dose of clinical anti-PD-1 antibodies. AIM: To observe and analyze the expression characteristics of peripheral lymphocyte PD-1 and FoxP3+ regulatory T cells (FoxP3+ Tregs) before and after surgery or chemotherapy in gastric cancer patients. METHODS: Twenty-nine stomach cancer patients undergoing chemotherapy after a D2 gastrectomy provided 10 mL peripheral blood samples at each phase of the perioperative period and during chemotherapy. This study also included 29 age-matched healthy donors as a control group. PD-1 expression was detected on lymphocytes, including CD4+CD8+CD45RO+, CD4+CD45RO+, and CD8+CD45RO+ lymphocytes as well as regulatory T cells. RESULTS: We observed a significant increase of PD-1 expression on immune subsets and a larger number of FoxP3+ Tregs in gastric cancer patients (P < 0.05). Following D2 gastrectomy, peripheral lymphocytes PD-1 expression and the number of FoxP3+ Tregs notably decrease (P < 0.05). However, during postoperative chemotherapy, we only observed a decrease in PD-1 expression on lymphocytes in the CD8+CD45RO+ and CD8+CD45RO+ populations. Additionally, linear correlation analysis indicated a positive correlation between PD-1 expression and the number of CD4+CD45RO+FoxP3high activated Tregs (aTregs) on the total peripheral lymphocytes (r = 0.5622, P < 0.0001). CONCLUSION: The observed alterations in PD-1 expression and the activation of regulatory T cells during gastric cancer treatment may offer novel insights for future investigations into tumor immune evasion and the clinical application of anti-PD-1 antibodies in gastric cancer.
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Neoplasias Gástricas , Humanos , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/cirurgia , Receptor de Morte Celular Programada 1/metabolismo , Recidiva Local de Neoplasia/patologia , Linfócitos T Reguladores , Fatores de Transcrição Forkhead/metabolismoRESUMO
BACKGROUND: Breast cancer (BC) has become the most common malignancy in women. The incidence and detection rates of BC brain metastasis (BCBM) have increased with the progress of imaging, multidisciplinary treatment techniques and the extension of survival time of BC patients. BM seriously affects the quality of life and sur-vival prognosis of BC patients. Therefore, clinical research on the clinicopathological features and prognostic factors of BCBM is valuable. By analyzing the clinicopathological parameters of BCBM patients, and assessing the risk factors and prognostic indicators, we can perform hierarchical diagnosis and treatment on the high-risk population of BCBM, and achieve clinical benefits of early diagnosis and treatment. AIM: To explore the clinicopathological features and prognostic factors of BCBM, and provide references for diagnosis, treatment and management of BCBM. METHODS: The clinicopathological data of 68 BCBM patients admitted to the Air Force Medical Center, Chinese People's Liberation Army (formerly Air Force General Hospital) from 2000 to 2022 were collected. Another 136 BC patients without BM were matched at a ratio of 1:2 based on the age and site of onset for retrospective analysis. Categorical data were subjected to χ2 test or Fisher's exact probability test, and the variables with P < 0.05 in the univariate Cox proportional hazards model were incorporated into the multivariate model to identify high-risk factors and independent prognostic factors of BCBM, with a hazard ratio (HR) > 1 suggesting poor prognostic factors. The survival time of patients was estimated by the Kaplan-Meier method, and overall survival was compared between groups by log-rank test. RESULTS: Multivariate Cox regression analysis showed that patients with stage III/IV tumor at initial diagnosis [HR: 5.58, 95% confidence interval (CI): 1.99-15.68], lung metastasis (HR: 24.18, 95%CI: 6.40-91.43), human epidermal growth factor receptor 2 (HER2)-overexpressing BC and triple-negative BC were more prone to BM. As can be seen from the prognostic data, 52 of the 68 BCBM patients had died by the end of follow-up, and the median time from diagnosis of BC to the occurrence of BM and from the occurrence of BM to death or last follow-up was 33.5 and 14 mo, respectively. It was confirmed by multivariate Cox regression analysis that patients with neurological symptoms (HR: 1.923, 95%CI: 1.005-3.680), with bone metastasis (HR: 2.011, 95%CI: 1.056-3.831), and BM of HER2-overexpressing and triple-negative BC had shorter survival time. CONCLUSION: HER2-overexpressing, triple-negative BC, late tumor stage and lung metastasis are risk factors of BM. The presence of neurological symptoms, bone metastasis, and molecular type are influencing prognosis factors of BCBM.
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BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation. AIM: To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without. METHODS: A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinical-pathologic manifestations of patients with and without STK11/LKB1 mutations were compared. RESULTS: STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps. CONCLUSION: PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.
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Intussuscepção , Síndrome de Peutz-Jeghers , Humanos , Síndrome de Peutz-Jeghers/genética , População do Leste Asiático , Proteínas Serina-Treonina Quinases/genética , Mutação , Mutação em Linhagem Germinativa , Quinases Proteína-Quinases Ativadas por AMPRESUMO
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment. AIM: To explore the clinical features, diagnosis, and treatment of PJS in a Chinese medical center. METHODS: The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized. A clinical database was established covering age, gender, ethnicity, family history, age at first treatment, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, quantity, and diameter, frequency of hospitalization, frequency of surgical operations, etc. The clinical data was retrospectively analyzed using SPSS 26.0 software, with P < 0.05 considered statistically significant. RESULTS: Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%. CONCLUSION: The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyps intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.
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Intussuscepção , Síndrome de Peutz-Jeghers , Pólipos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , População do Leste Asiático , Endoscopia Gastrointestinal/métodos , Intussuscepção/etiologia , Síndrome de Peutz-Jeghers/complicações , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/cirurgia , Estudos RetrospectivosRESUMO
A newly designed Pb(II) potentiometric sensor based on intrinsically conducting nanoparticles of solid poly(aniline-co-2-hydroxy-5-sulfonic aniline) possessing many ligating functional groups like -NH-, -N=, -OH, -SO(3)H, -NH(2) as ionophores in plasticizer-free vinyl resin solid membranes has been fabricated. A linear Nernstian response is obtained within a wide Pb(II) activity range from 1.0 × 10(-3) to 1.0 × 10(-10) M with a detection limit as low as 2.2 × 10(-11) M. The pH independent plateau ranges between 3.5 and 7.0. After 15 months' usage, the sensor maintains 95% performance parameters. Its anti-interference ability to Cu(II), Cd(II), Ag(I), and Hg(II) is much stronger than other sensors with a detection limit at (sub)nanomolar level. Electrochemical impedance spectroscopy reveals that the solid sensing membrane has a diffusion coefficient of around 5 × 10(-14) to 1 × 10(-13) cm(2) s(-1). The much lower diffusion coefficient for Pb(II) is highly beneficial for the elimination of Pb(II) flux across the membrane. The wide detection concentration range, low detection limit, high selectivity, extensive pH window, and long lifetime make for a robust sensor giving reliable measurement of Pb(II) content with potential application in real-world samples at trace levels.
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BACKGROUND: Diffuse invasive signet ring cell carcinoma of the colorectum is extremely rare clinically. This type of colorectal cancer has certain clinical, pathological and biological characteristics that are different from ordinary colorectal cancer. CASE SUMMARY: A 31-year-old young woman was admitted to the hospital for nearly 1 wk due to recurrent symptoms of mucopurulent bloody stools and abdominal distension. Preoperative colonoscopy showed a ring-shaped intestinal wall mass 10 cm from the rectum to the anus. Three pieces of tumor tissue were removed for examination. The pathological results showed rectal mucinous adenocarcinoma. The patient underwent laparoscopic exploration under general anesthesia, and then laparoscopic total colorectal resection, ileal pouch-anal anastomosis and ileostomy were performed. The patient was switched to a FOLFOX + cetuximab regimen. After the fifth cycle, the patient was unable to tolerate further treatment due to tumor progression and multiple organ dysfunction, and died at the end of May 2020. Overall survival was 7 mo. CONCLUSION: Carcinogenesis of ulcerative colitis is different from sporadic colon cancer, and the overall prognosis is extremely poor.
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BACKGROUND: Different types of pathogenic mutations may produce different clinical phenotypes, but a correlation between Peutz-Jeghers syndrome (PJS) genotype and clinical phenotype has not been found. Not all patients with PJS have detectable mutations of the STK11/LKB1 gene, what is the genetic basis of clinical phenotypic heterogeneity of PJS? Do PJS cases without STK11/LKB1 mutations have other pathogenic genes? Those are clinical problems that perplex doctors. AIM: The aim was to investigate the specific gene mutation of PJS, and the correlation between the genotype and clinical phenotype of PJS. METHODS: A total of 24 patients with PJS admitted to the Air Force Medical Center, PLA (formerly the Air Force General Hospital, PLA) from November 1994 to January 2020 were randomly selected for inclusion in the study. One hundred thirty-nine common hereditary tumor-related genes including STK11/LKB1 were screened and analyzed for pathogenic germline mutations by high-throughput next-generation sequencing (NGS). The mutation status of the genes and their relationship with clinical phenotypes of PJS were explored. RESULTS: Twenty of the 24 PJS patients in this group (83.3%) had STK11/LKB1 gene mutations, 90% of which were pathogenic mutations, and ten had new mutation sites. Pathogenic mutations in exon 7 of STK11/LKB1 gene were significantly lower than in other exons. Truncation mutations are more common in exons 1 and 4 of STK11/LKB1, and their pathogenicity was significantly higher than that of missense mutations. We also found SLX4 gene mutations in PJS patients. CONCLUSION: PJS has a relatively complicated genetic background. Changes in the sites responsible for coding functional proteins in exon 1 and exon 4 of STK11/LKB1 may be one of the main causes of PJS. Mutation of the SLX4 gene may be a cause of genetic heterogeneity in PJS.
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Mutação em Linhagem Germinativa , Síndrome de Peutz-Jeghers , Proteínas Serina-Treonina Quinases/genética , Quinases Proteína-Quinases Ativadas por AMP , Éxons , Humanos , Mutação , Síndrome de Peutz-Jeghers/genética , Fenótipo , Recombinases/genéticaRESUMO
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare disease with clinical manifestations of pigmented spots on the lips, mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors. The clinical heterogeneity of PJS is obvious, and the relationship between clinical phenotype and genotype is still unclear. AIM: To investigate the mutation status of hereditary colorectal tumor-associated genes in hamartoma polyp tissue of PJS patients and discuss its relationship with the clinicopathological data of PJS. METHODS: Twenty patients with PJS were randomly selected for this study and were treated in the Air Force Medical Center (former Air Force General Hospital) PLA between 2008 and 2017. Their hamartoma polyp tissues were used for APC, AXIN2, BMPR1A, EPCAM, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, and LKB1/STK11 gene sequencing using next-generation sequencing technology. The correlations between the sequencing results and clinical pathological data of PJS were analyzed. RESULTS: Fourteen types of LKB1/STK11 mutations were detected in 16 cases (80.0%), of which 8 new mutations were found (3 types of frameshift deletion mutations: c.243delG, c.363_364delGA, and c.722delC; 2 types of frameshift insertions: c. 144_145insGCAAG, and c.454_455insC; 3 types of splice site mutations: c.464+1G>T, c.464+1G>A, and c.598-1G>A); 9 cases (45.0%) were found to have 18 types of heterozygous mutations in the remaining 13 genes except LKB1/STK11. Of these, MSH2: c.792+1G>A, MSH6: c.3689C>G, c.4001+13C>CTTAC, PMS1: c.46C>t, and c.922G>A were new mutations. CONCLUSION: The genetic mutations in hamartoma polyp tissue of PJS are complex and diverse. Moreover, other gene mutations in PJS hamartoma polyp tissue were observed, with the exception of LKB1/STK11 gene, especially the DNA mismatch repair gene (MMR). Colorectal hamartoma polyps with LKB1/STK11 mutations were larger in diameter than those with other gene mutations.
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Reparo de Erro de Pareamento de DNA/genética , Heterogeneidade Genética , Hamartoma/genética , Pólipos Intestinais/genética , Síndrome de Peutz-Jeghers/complicações , Quinases Proteína-Quinases Ativadas por AMP , Adolescente , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Mutação em Linhagem Germinativa , Hamartoma/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Mucosa Intestinal/patologia , Pólipos Intestinais/patologia , Masculino , Taxa de Mutação , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinases/genéticaRESUMO
BACKGROUND: Colorectal cancer (CRC) could seriously threaten the physical and mental health of pilots. Shall they end their flying after treatment of CRC? With this study, we investigated the possibility of a gradual medical waiver for such pilots to fly aircrafts again after treatment of CRC. CASE SUMMARY: We analyzed the medical waiver and clinical data of 3 pilots with CRC, who had accepted the treatment at the Department of General Surgery, Air Force Medical Center (formerly, Air Force General Hospital) between 2013 and 2018. All 3 cases underwent a series of comprehensive treatment courses, including radical resection of CRC, sequential radiotherapy, and chemotherapy. The follow-up results were satisfactory. After passing through the high-risk period of recurrence and metastasis of CRC, they all were given a medical waiver for flying again. Medical observation showed that their flying operations were safe. CONCLUSION: The CRC treatment shall follow the guidelines for diagnosis and treatment and should simultaneously protect the combating capabilities of pilots as much as possible. It is safe for pilots with CRC, who are continuously monitored under medical observation after passing through the high-risk period of recurrence and metastasis, to undertake military flight missions again.
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Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis (RPC/ IPAA), ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper.
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Síndrome de Gardner/diagnóstico , Pólipos/diagnóstico , Gastropatias/diagnóstico , Adulto , Animais , Bombyx/metabolismo , Endoscopia , Feminino , Síndrome de Gardner/complicações , Síndrome de Gardner/terapia , Humanos , Medicina Tradicional Chinesa , Extratos Vegetais/uso terapêutico , Pólipos/complicações , Pólipos/terapia , Proctocolectomia Restauradora/métodos , Gastropatias/complicações , Gastropatias/terapia , Fatores de Tempo , Resultado do TratamentoRESUMO
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of LKB1/STK11 gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. However, must a patient with PJS have the LKB1/STK11 gene mutation? We here report a case of a male patient who had typical manifestations of PJS and a definite family history, but did not have LKB1/STK11 gene mutation. By means of high-throughput sequencing technology, only mutations in APC gene (c.6662T > C: p.Met2221Thr) and MSH6 gene (c.3488A > T: p.Glu1163Val) were detected. The missense mutations in APC and MSH6 gene may lead to abnormalities in structure and function of their expression products, and may result in the occurrence of PJS. This study suggests that some other genetic disorders may cause PJS besides LKB1/STK11 gene mutation.
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Abdominal cocoon syndrome (ACS) is a rare cause of intestinal obstruction due to total or partial encapsulation of the small intestine by a fibrocollagenous membrane. Idiopathic ACS with abdominal cryptorchidism and greater omentum hypoplasia is even rarer clinically. We successfully treated a 26-year-old male case of small bowel obstruction with acute peritonitis. He was finally diagnosed with idiopathic ACS with unilateral abdominal cryptorchidism and greater omentum hypoplasia during exploratory laparotomy. He then underwent enterolysis, cryptorchidectomy, and appendectomy. He recovered gradually from the operations and early postoperative inflammatory ileus. There has been no recurrence of intestinal obstruction since the operation, and he is still in follow-up. We analyzed his clinical data and retrospectively reviewed the literature, and our findings may be helpful for the clinical diagnosis and treatment on ACS.
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Criptorquidismo/complicações , Obstrução Intestinal/etiologia , Intestino Delgado , Omento/anormalidades , Fibrose Peritoneal/complicações , Adulto , Apendicectomia , Biópsia , Criptorquidismo/diagnóstico , Criptorquidismo/cirurgia , Humanos , Ácido Hialurônico/uso terapêutico , Obstrução Intestinal/diagnóstico , Obstrução Intestinal/cirurgia , Intestino Delgado/diagnóstico por imagem , Intestino Delgado/patologia , Intestino Delgado/cirurgia , Masculino , Orquiectomia , Fibrose Peritoneal/diagnóstico , Fibrose Peritoneal/cirurgia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
A 26-year-old man presented with migrated right lower abdominal pain and without any history of hematological systemic diseases. Blood routine test showed a leukocyte count of 22.74 × 10(9)/L, with 91.4% neutrophils, and a platelet count of 4 × 10(9)/L before admission. The case question was whether the team should proceed with surgery. Obviously, a differential diagnosis is essential before making such a decision. Acute appendicitis was easily diagnosed based on clinical findings, including migrating abdominal pain, a leukocyte count of 22.74 × 10(9)/L and the result of abdominal computed tomography scan. However, it was not clear whether the severe thrombocytopenia was primary or secondary. So smear of peripheral blood and aspiration of bone marrow were ordered to exclude hematological diseases. Neither of the tests indicated obvious pathological hematological changes. There was no hepatosplenomegaly found by ultrasound examination of the liver and spleen. Therefore, operative intervention may be a unique clinical scenario in acute severe appendicitis patients with secondary thrombocytopenia.
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Apendicectomia , Apendicite/cirurgia , Trombocitopenia/etiologia , Dor Abdominal/etiologia , Adulto , Apendicite/complicações , Apendicite/diagnóstico , Exame de Medula Óssea , Contraindicações , Diagnóstico Diferencial , Humanos , Masculino , Contagem de Plaquetas , Valor Preditivo dos Testes , Fatores de Risco , Índice de Gravidade de Doença , Trombocitopenia/sangue , Trombocitopenia/diagnóstico , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
AIM: To explore the microRNA (miRNA) profiles and to determine the key miRNAs within the side population (SP) cells of the gastric cancer cell line MKN-45. METHODS: We used fluorescence-activated cell sorting and Hoechst 33342 labeling to obtain SP cells from the human gastric carcinoma cell line MKN-45. The miRNA expression profiles of the SP and major population (MP) cells were examined using a miRNA gene chip, and key miRNAs were obtained according to aberrant expression and the miRNAs' possible targets as predicted by bioinformatics. RESULTS: Using a significance criterion of a 1.5-fold or greater difference in expression level, we observed an increase in the expression of 34 miRNAs and a decrease in the expression of 34 miRNAs when comparing SP to MP cells. Using quantitative real-time reverse transcription-polymerase chain reaction to test for differentially expressed miRNAs combined with bioinformatics results, we found that the downregulated miRNAs, such as hsa-miR-3175 and hsa-miR-203, and the upregulated miRNAs, including hsa-miR-130a, hsa-miR-324-5p, hsa-miR-34a, and hsa-miR-25-star, may be important in maintaining and regulating the characteristics of SP cells. CONCLUSION: There are key miRNAs expressed within the SP cells of the gastric cancer cell line MKN-45, and include hsa-miR-3175, hsa-miR-203, hsa-miR-130a, hsa-miR-324-5p, hsa-miR-34a, and hsa-miR-25-star.
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Adenocarcinoma/metabolismo , MicroRNAs/metabolismo , Células da Side Population/metabolismo , Neoplasias Gástricas/metabolismo , Adenocarcinoma/genética , Adenocarcinoma/patologia , Linhagem Celular Tumoral , Biologia Computacional , Perfilação da Expressão Gênica/métodos , Regulação Neoplásica da Expressão Gênica , Humanos , MicroRNAs/genética , Análise de Sequência com Séries de Oligonucleotídeos , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Células da Side Population/patologia , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologiaRESUMO
Necrotizing fasciitis (NF) is an uncommon, rapidly progressive, and potentially fatal infection of the superficial fascia and subcutaneous tissue. NF caused by an enterocutaneous fistula has special clinical characters compared with other types of NF. NF caused by enterocutaneous fistula may have more rapid progress and more severe consequences because of multiple germs infection and corrosion by digestive juices. We treated three cases of NF caused by postoperative enterocutaneous fistula since Jan 2007. We followed empirically the principle of eliminating anaerobic conditions of infection, bypassing or draining digestive juice from the fistula and changing dressings with moist exposed burn therapy impregnated with zinc/silver acetate. These three cases were eventually cured by debridement, antibiotics and wound management.