|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Endoscopic ultrasound guided radiofrequency ablation,for pancreatic cystic neoplasms and neuroendocrine tumors显示文摘AIM: To outline the feasibility, safety, adverse events and early results of endoscopic ultrasound(EUS)-radiofrequency ablation(RFA) in pancreatic neoplasms using a novel probe. METHODS: This is a multi-center, pilot safety feasibility study. The intervention described was radiofrequency ablation(RF) which was applied with an innovative monopolar RF probe(1.2 mm Habib EUS-RFA catheter) placed through a 19 or 22 gauge fine needle aspiration(FNA) needle once FNA was performed in patients with a tumor in the head of the pancreas. The HabibTM EUSRFA is a 1 Fr wire(0.33 mm, 0.013') with a working length of 190 cm, which can be inserted through the biopsy channel of an echoendoscope. RF power is applied to the electrode at the end of the wire to coagulate tissue in the liver and pancreas.RESULTS: Eight patients [median age of 65(range 27-82) years; 7 female and 1 male] were recruited in a prospective multicenter trial. Six had a pancreatic cysticneoplasm(four a mucinous cyst, one had intraductal papillary mucinous neoplasm and one a microcystic adenoma) and two had a neuroendocrine tumors(NET) in the head of pancreas. The mean size of the cystic neoplasm and NET were 36.5 mm(SD ± 17.9 mm) and 27.5 mm(SD ± 17.7 mm) respectively. The EUSRFA was successfully completed in all cases. Among the 6 patients with a cystic neoplasm, post procedure imaging in 3-6 mo showed complete resolution of the cysts in 2 cases, whilst in three more there was a 48.4% reduction [mean pre RF 38.8 mm(SD ± 21.7 mm) vs mean post RF 20 mm(SD ± 17.1 mm)] in size. In regards to the NET patients, there was a change in vascularity and central necrosis after EUS-RFA. No major complications were observed within 48 h of the procedure. Two patients had mild abdominal pain that resolved within 3 d. CONCLUSION: EUS-RFA of pancreatic neoplasms with a novel monopolar RF probe was well tolerated in all cases. Our preliminary data suggest that the procedure is straightforward and safe. The response ranged from complete resolution to a 50% reduction in size. | Madhava Pai Nagy Habib Hakan Senturk Sundeep Lakhtakia Nageshwar Reddy Vito R Cicinnati Iyad Kaba Susanne Beckebaum Panagiotis Drymousis Michel Kahaleh William Brugge | 2015 | World Journal of Gastrointestinal Surgery2015，7，4： | 23 |
| 2 | Human cystic echinococcosis:epidemiologic,zoonotic,clinical,diagnostic and therapeutic aspects显示文摘This review represents an updated scenario on the transmission cycle,epidemiology,clinical features and pathogenicity,diagnosis and treatment,and prevention and control measures of a cestode parasite Echincoccus granulosus(E.granulosus) infection causing cystic echinococcosis (CE) in humans.Human CE is a serious life-threatening neglected zoonotic disease that occurs in both developing and developed countries,and is recognized as a major public health problem. The life cycle of E.granulosus involves a definitive host(dogs and other canids) for the adult E.granulosus that resides in the intestine,and an intermediate host(sheep and other herbivores) for the tissue-invading metacestode(larval) stage.Humans are only incidentally infected;since the completion of the life cycle of E.granulosus depends on carnivores feeding on herbivores bearing hydatid cysts with viable protoscoleces,humans represent usually the dead end for the parasite.On ingestion of E.granulosus eggs,hydatid cysts are formed mostly in liver and lungs, and occasionally in other organs of human body,which are considered as uncommon sites of localization of hydatid cysts.The diagnosis of extrahepatic echinococcal disease is more accurate today because of the availability of new imaging techniques,and the current treatments include surgery and percutaneous drainage,and chemotherapy(albendazole and mebendazole).But.the wild animals that involve in sylvatic cycle may overlap and interact with the domestic sheepdog cycle,and thus complicating the control efforts.The updated facts and phenomena regarding human and animal CE presented herein are due to the web search of SCI and non-SCI journals. | Shyamapada Mandal Manisha Deb Mandal | 2012 | Asian Pacific Journal of Tropical Medicine2012，5，4： | 21 |
| 3 | Intraductal papillary neoplasm of the bile ducts: A case report and literature review显示文摘Intraductal papillary neoplasm of the bile duct(IPNB) is a rare bile duct neoplasm mostly found in far eastern nations where hepatolithiasis and clonorchiasis infections are endemic. In western countries,it is very rare and the etiology is unknown. In this article,we report the first IPNB patient we encountered in our clinic and a literature review. The patient is a 38-yearold female with a history of choledocholithiasis who presented with obstructive jaundice. She was found to have a papillary mass at the junction of the right hepatic duct and common hepatic duct with six masses in the liver parenchyma. The immunophenotypic and histologic features of the tumor are consistent with IPNB,gastric subtype. The patient had a partial hepatectomy and has been receiving palliative chemotherapy. In a search of Pub Med database,we collected 354 IPNB patients reported in 22 articles. In these patients,52.8% were from Japan and 27.7% were from western countries including the United States(11.0%). The age of the patients ranged from 35 to 80 years old with an average of 64.6. Male/female ratio was 1.5. Macroscopically,57.5% of the tumors were in the left lobe and 29.5% were in the right lobe. The average size of the tumor were 4.2 cm at the time of diagnosis. Histologically,pancreato-biliary subtype accounted for 41.8%,intestinal 28.0%,gastric 13.5% and oncocytic 16%. An invasive component is most often present in the pancreato-biliary and gastric subtypes. Despite recent advanced technologies,diagnosis of IPNB is still challenging,especially in western countries due to its rarity. Defined clinicopathologic features are in demand for the accurate diagnosis and proper treatment. | Yaohong Tan Clara Milikowski Yanelba Toribio Adam Singer Claudia P Rojas Monica T Garcia-Buitrago | 2015 | World Journal of Gastroenterology2015，21，43： | 19 |
| 4 | Current perspectives on pancreatic serous cystic neoplasms:Diagnosis, management and beyond显示文摘Pancreatic cystic neoplasms have been increasingly recognized recently. Comprising about 16% of all resected pancreatic cystic neoplasms, serous cystic neoplasms are uncommon benign lesions that are usually asymptomatic and found incidentally. Despite overall low risk of malignancy, these pancreatic cysts still generate anxiety, leading to intensive medical investigations with considerable financial cost to health care systems. This review discusses the general background of serous cystic neoplasms, including epidemiology and clinical characteristics, and provides an updated overview of diagnostic approaches based on clinical features, relevant imaging studies and new findings that are being discovered pertaining to diagnostic evaluation. We also concisely discuss and propose management strategies for better quality of life. | Xiao-Peng Zhang Zhong-Xun Yu Yu-Pei Zhao Meng-Hua Dai | 2016 | World Journal of Gastrointestinal Surgery2016，8，3： | 16 |
| 5 | Adenoid cystic carcinoma of breast: Recent advances显示文摘Adenoid cystic carcinoma(ACC) of the breast is a rare special subtype of breast cancer characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. Most breast cancers with triple-negative, basal-like breast features(i.e., tumors that are devoid of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 expression, and express basal cell markers) are generally high-grade tumors with an aggressive clinical course. Conversely, while ACCs also display a triple-negative, basal-like phenotype, they are usually low-grade and exhibit an indolent clinical behavior. Many discoveries regarding the molecular and genetic features of the ACC, including a specific chromosomal translocation t(6;9) that results in a MYB-NFIB fusion gene, have been made in recent years. This comprehensive review provides our experience with ACC of the breast, as well as an overview of clinical, histopathological, and molecular genetic features. | Kosuke Miyai Mary R Schwartz Mukul K Divatia Rose C Anton Yong Wook Park Alberto G Ayala Jae Y Ro | 2014 | World Journal of Clinical Cases2014，2，12： | 16 |
| 6 | Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract显示文摘Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management. | Subramaniyan Ramanathan Devendra Kumar Maneesh Khanna Mahmoud Al Heidous Adnan Sheikh Vivek Virmani Yegu Palaniappan | 2016 | World Journal of Radiology2016，8，2： | 13 |
| 7 | Biliary tract intraductal papillary mucinous neoplasm: Report of 19 cases显示文摘AIM: To gain a better understanding of biliary tract intraductal papillary mucinous neoplasm(BT-IPMN).METHODS: From January 2000 to December 2013, 19cases of BT-IPMN were retrospectively identified from a total of 343 biliary tract tumors resected in our single institution.Demographic characteristics, clinical data, pathology, surgical strategies, and long-term follow-up were analyzed.RESULTS: The mean age of the 19 BT-IPMN cases was 53.8 years(range: 25-74 years).The most common symptom was abdominal pain(15/19; 78.9%), followed by jaundice(7/19; 36.8%).Cholangitis was associated with most(16/19; 84.2%) of the BT-IPMN cases.Macroscopically visible mucin was detected in all 19 patients, based on original surgical reports.The most common abnormal preoperative imaging findings for BT-IPMN were bile duct dilation(19/19; 100%) and intraluminal masses(10/19; 52.6%).Thirteen(68.4%) cases involved the intrahepatic bile duct and hilum.We performed left hepatectomy in 11/19(57.9%), right hepatectomy in 2/19(10.5%), bile duct resection in 4/19(21.1%), and pancreatoduodenectomy in 1/19(5.3%) patients.One(5.3%) patient was biopsied and received a choledochojejunostomy because of multiple tumors involving the right extrahepatic and left intrahepatic bile ducts.Histology showed malignancy in 10/19(52.6%) patients.The overall median survival was 68 mo.The benign cases showed a non-significant trend towards improved survival compared to malignant cases(68 mo vs 48 mo, P = 0.347).The patient without tumor resection died of liver failure 22 mo after palliative surgery.CONCLUSION: BT-IPMN is a rare biliary entity.Complete resection of the tumor is associated with good survival, even in patients with malignant disease. | Xing Wang Yun-Qiang Cai Yong-Hua Chen Xu-Bao Liu | 2015 | World Journal of Gastroenterology2015，21，14： | 13 |
| 8 | Retroperitoneal cystic lymphangioma in an adult:A case report and review of the literature显示文摘Lymphangiomas are rare benign cystic tumors of the lymphatic system.Retroperitoneal lymphangiomas account for 1%of all lymphangiomas,and approximately 186 cases have been reported.They may clinically present as a palpable abdominal mass and can cause diagnostic dilemmas with other retroperitoneal cystic tumors,including those arising from the liver,kidney and pancreas.This report describes the rare case of a cystic retroperitoneal lymphangioma in a 54-year-old male patient.The lymphangioma had progressed to the point of inducing clinical symptoms of abdominal distention,abdominal pain,anorexia,fever,nausea and diarrhea.Radiological imaging revealed a large multiloculated cystic abdominal mass with enhancing septations involving the upper retroperitoneum and extending into the pelvis.Surgical removal of the cyst was accomplished without incident.A benign cystic retroperitoneal lymphangioma was diagnosed on histology and confirmed with immunohistochemical stains. | Tapan Bhavsar Daryoush Saeed-Vafa Sean Harbison Susan Inniss | 2010 | World Journal of Gastrointestinal Pathophysiology2010，1，5： | 12 |
| 9 | Imaging evaluation of hemoptysis in children显示文摘Hemoptysis is an uncommon but distressing symptom in children. It poses a diagnostic challenge as it is difficult to elicit a clear history and perform thorough physical examination in a child. The cause of hemoptysis in children can vary with the child's age. It can range from infection, milk protein allergy and congenital heart disease in early childhood, to vasculitis, bronchial tumor and bronchiectasis in older children. Acute lower respiratory tract infections are the most common cause of pediatric hemoptysis. The objective of imaging is to identify the source of bleeding, underlying primary cause, and serve as a roadmap for invasive procedures. Hemoptysis originates primarily from the bronchial arteries. The imaging modalities available for the diagnostic evaluation of hemoptysis include chest radiography, multi-detector computed tomography(MDCT), magnetic resonance imaging(MRI) and catheter angiography. Chest radiography is the initial screening tool. It can help in lateralizing the bleeding with high degree of accuracy and can detect several parenchymal and pleural abnormalities. However, it may be normal in up to 30% cases. MDCT is a rapid, non-invasive multiplanar imaging modality. It aids in evaluation of hemoptysis by depiction of underlying disease, assessment of consequences of hemorrhage and provides panoramic view of the thoracic vasculature. The various structures which need to be assessed carefully include the pulmonary parenchyma, tracheobronchial tree, pulmonary arteries, bronchial arteries and non-bronchial systemic arteries. Since the use of MDCT entails radiation exposure, optimal low dose protocols should be used so as to keep radiation dose as low as reasonably achievable. MRI and catheter angiography have limited application. | Divya Singh Ashu Seith Bhalla Prasad Thotton Veedu Arundeep Arora | 2013 | World Journal of Clinical Pediatrics2013，2，4： | 12 |
| 10 | Cystic echinococcosis of the liver: A primer for hepatologists显示文摘Cystic echinococcosis(CE) is a complex, chronic and neglected disease with a worldwide distribution. The liver is the most frequent location of parasitic cysts. In humans, its clinical spectrum ranges from asymptom-atic infection to severe, potentially fatal disease. Four approaches exist in the clinical management of CE: surgery, percutaneous techniques and drug treatment for active cysts, and the 'watch and wait' approach for inactive cysts. Allocation of patients to these treat-ments should be based on cyst stage, size and location, available clinical expertise, and comorbidities. However, clinical decision algorithms, efficacy, relapse rates, and costs have never been properly evaluated. This paper reviews recent advances in classification and diagnosisand the currently available evidence for clinical deci-sion-making in cystic echinococcosis of the liver. | Francesca Rinaldi Enrico Brunetti Andreas Neumayr Marcello Maestri Samuel Goblirsch Francesca Tamarozzi | 2014 | World Journal of Hepatology2014，6，5： | 12 |
| 11 | Evaluation of hepatic cystic lesions显示文摘Hepatic cysts are increasingly found as a mere coincidence on abdominal imaging techniques, such as ultrasonography (USG), computed tomography (CT) and magnetic resonance imaging (MRI). These cysts often present a diagnostic challenge. Therefore, we performed a review of the recent literature and developed an evidence-based diagnostic algorithm to guide clinicians in characterising these lesions. Simple cysts are the most common cystic liver disease, and diagnosis is based on typical USG characteristics. Serodiagnostic tests and microbubble contrast-enhanced ultrasound (CEUS) are invaluable in differentiating complicated cysts, echinococcosis and cystadenoma/cystadenocarcinoma when USG, CT and MRI show ambiguous findings. Therefore, serodiagnostic tests and CEUS reduce the need for invasive procedures. Polycystic liver disease (PLD) is arbitrarily defined as the presence of > 20 liver cysts and can present as two distinct genetic disorders: autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (PCLD). Although genetic testing for ADPKD and PCLD is possible, it is rarely performed because it does not affect the therapeutic management of PLD. USG screening of the liver and both kidneys combined with extensive family history taking are the cornerstone of diagnostic decision making in PLD. In conclusion, an amalgamation of these recent advances results in a diagnostic algorithm that facilitates evidence-based clinical decision making. | Marten A Lantinga Tom JG Gevers Joost PH Drenth | 2013 | World Journal of Gastroenterology2013，19，23： | 12 |
| 12 | Endosonography in the diagnosis and management of pancreatic cysts显示文摘Rapid advances in radiologic technology and increased cross-sectional imaging have led to a sharp rise in incidental discoveries of pancreatic cystic lesions. These cystic lesions include non-neoplastic cysts with no risk of malignancy, neoplastic non-mucinous serous cystadenomas with little or no risk of malignancy, as well as neoplastic mucinous cysts and solid pseudopapillary neoplasms both with varying riskof malignancy. Accurate diagnosis is imperative as management is guided by symptoms and risk of malignancy. Endoscopic ultrasound(EUS) allows high resolution evaluation of cyst morphology and precise guidance for fine needle aspiration(FNA) of cyst fluid for cytological, chemical and molecular analysis. Initially, clinical evaluation and radiologic imaging, preferably with magnetic resonance imaging of the pancreas and magnetic resonance cholangiopancreatography, are performed. In asymptomatic patients where diagnosis is unclear and malignant risk is indeterminate, EUSFNA should be used to confirm the presence or absence of high-risk features, differentiate mucinous from non-mucinous lesions, and diagnose malignancy. After analyzing the cyst fluid for viscosity, cyst fluid carcinoembryonic antigen, amylase, and cyst wall cytology should be obtained. DNA analysis may add useful information in diagnosing mucinous cysts when the previous studies are indeterminate. New molecular biomarkers are being investigated to improve diagnostic capabilities and management decisions in these challenging cystic lesions. Current guidelines recommend surgical pancreatic resection as the standard of care for symptomatic cysts and those with high-risk features associated with malignancy. EUSguided cyst ablation is a promising minimally invasive, relatively low-risk alternative to both surgery and surveillance. | Vivek Kadiyala Linda S Lee | 2015 | World Journal of Gastrointestinal Endoscopy2015，7，3： | 12 |
| 13 | Early detection and prevention of pancreatic cancer:Is it really possible today?显示文摘Pancreatic cancer is the 4th leading cause of cancerrelated death in Western countries.Considering the low incidence of pancreatic cancer,population-based screening is not feasible.However,the existence of a group of individuals with an increased risk to develop pancreatic cancer has been well established.In particular,individuals suffering from a somatic or genetic condition associated with an increased relative risk of more than 5-to 10-fold seem to be suitable for enrollment in a surveillance program for prevention or early detection of pancreatic cancer.The aim of such a program is to reduce pancreatic cancer mortality through early or preemptive surgery.Considering the risk associated with pancreatic surgery,the concept of preemptive surgery cannot consist of a prophylactic removal of the pancreas in high-risk healthy individuals,but must instead aim at treating precancerous lesions such as intraductal papillary mucinous neoplasms or pancreatic intraepithelial neoplasms,or early cancer.Currently,results from clinical trials do not convincingly demonstrate the efficacy of this approach in terms of identification of precancerous lesions,nor do they define the outcome of the surgical treatment of these lesions.For this reason,surveillance programs for individuals at risk of pancreatic cancer are thus far generally limited to the setting of a clinical trial.However,the acquisition of a deeper understanding of this complex area,together with the increasing request for screening and treatment by individuals at risk,will usher pancreatologists into a new era of preemptive pancreatic surgery.Along with the growing demand to treat individuals with precancerous lesions,the need for low-risk investigation,lowmorbidity operation and a minimally invasive approach becomes increasingly pressing.All of these considerations are reasons for preemptive pancreatic surgery programs to be undertaken in specialized centers only. | Marco Del Chiaro Ralf Segersvrd Matthias Lohr Caroline Verbeke | 2014 | World Journal of Gastroenterology2014，20，34： | 11 |
| 14 | Long-term follow-up of distal intestinal obstruction syndrome in cystic fibrosis显示文摘AIM: To investigate the long-term follow-up of distal intestinal obstruction syndrome(DIOS) in Israeli cystic fibrosis(CF) patients.METHODS: This is a multi-center,comparative,retrospective study in which we reviewed the medical records of all CF patients from three major CF centers in Israel who were treated in the period from 1980 to 2012.Patients diagnosed with DIOS were defined as the study group.The patients were diagnosed with DIOS based on their clinical presentation and typical findings on either abdominal X-ray or computerized tomography scan.For the control group,CF patients with no DIOS were matched to the patients in the study group for age,sex,and cystic fibrosis transmembrane conductance regulator(CFTR) mutations.For both groups,the collected data included age,sex,CFTR genotype,weight,height,and body mass index.Clinical data included respiratory function tests in the last five years prior to the study,respiratory function test immediately before and after the DIOS event,number of hospitalizations,sputum culture results,and CFrelated conditions diagnosed according to the CF clinical practice guidelines.In the study group,data on the DIOS treatment and tendency for DIOS recurrence were also analyzed.RESULTS: The medical charts for a total of 350 CF patients were reviewed.Of the 350 CF patients,26(7.4%) were diagnosed with DIOS.The control group included 31 CF patients with no DIOS diagnosis.The mean follow-up period was 21.6 ± 8.2 years.The total of DIOS episodes in the follow-up period was 60.The distribution of DIOS episodes was as follows: 6/26(23.1%) study patients had one episode of DIOS intheir lifetime,7/26(26.9%) had two episodes,7/26(26.9%) had three episodes,and 6/26(23.1%) had four or more episodes.Compared to the control group,DIOS patients had a significantly higher incidence of meconium ileus in the past(65.4% vs 0%,respectively,P < 0.02),more Aspergillus spp.colonization(34.6% vs 3.2%,respectively,P < 0.02),and a higher number of hospitalizations due to respiratory exacerbations(8.6 vs 6.2 mean total hospitalizations per follow-up period,respectively,P < 0.02).No other significant differences were found between the control and study groups.The conservative treatment of DIOS,which mainly includes hydration and stool softeners,was successful in 82% of the episodes.The survival rate was similar for both groups.CONCLUSION: CF patients with DIOS suffer from recurrent hospitalizations and airway pathogen acquisition.Although recurrence of DIOS is common,conservative treatment is successful in most patients. | Moran Lavie Tzipora Manovitz Daphna Vilozni Sarina Levy-Mendelovich Ifat Sarouk Ilana Weintraubv David Shoseyov Malena Cohen-Cymberknoh Joseph Rivlin Ori Efrati | 2015 | World Journal of Gastroenterology2015，21，1： | 10 |
| 15 | Allergic bronchopulmonary aspergillosis:Lessons for the busy radiologist显示文摘The probability of a radiologist interpreting a disease correctly is not only influenced by their training and experience but also on the knowledge of a particular entity.This editorial reviews certain myths and realities associated with radiological manifestations of allergic bronchopulmonary aspergillosis(ABPA).ABPA is a hypersensitivity disorder against the antigens of Aspergillus fumigatus.Although commonly manifesting with central bronchiectasis(CB),the disorder can present without any abnormalities on high-resolution computed tomography(HRCT) of the chest,so-called serologic ABPA(ABPA-S).HRCT of the chest should not be used in screening or in the initial diagnostic work up of asthmatics,as asthma without ABPA can manifest with findings of CB.High-attenuation mucus(HAM) is the pathognomonic sign of ABPA and is very helpful in the diagnosis of ABPA complicating asthma and cystic fibrosis.Instead of classifying ABPA based on the presence and absence of CB into ABPA-CB and ABPA-S respectively,ABPA should be classif ied as ABPA-S,ABPACB and ABPA-CB-HAM.The classif ication scheme based on HAM not only identifies an immunologically severe disease but also predicts a patient with increased risk of recurrent relapses. | Ritesh Agarwal | 2011 | World Journal of Radiology2011，3，7： | 8 |
| 16 | Clinical characterization and diagnosis of cystic fibrosis throughexome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis显示文摘Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CFtransmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infectionwith obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinesepopulation. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome(BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemicalkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CFhas not been diagnosed in children younger than three years of age to date. Three infants, who were initiallyadmitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, werediagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygousmutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in oneinfant. Among the six identified mutations, two are novel point mutations (c.1526G 〉 C and c.3062C 〉 T) that arepossibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CFat a very early stage. Follow-up examination showed that all of the cases remained symptom-free after earlyintervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF.Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosisand the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, ourfindings expand the CFTR mutation spectrum associated with CF. | Liru Qiu Fengjie Yang Yonghua He Huiqing Yuan Jianhua Zhou | 2018 | Frontiers of Medicine2018，12，5： | 7 |
| 17 | Pathophysiology of cystic fibrosis and drugs used in associated digestive tract diseases显示文摘Cystic fibrosis(CF)causes chronic infections in the respiratory tract and alters the digestive tract.This paper reviews the most important aspects of drug treatment and changes in the digestive tract of patients with CF.This is a review of the literature,emphasizing the discoveries made within the last 15 years by analyzing scientific papers published in journals indexed in the Scientific Electronic Library Online,Sciences Information,United States National Library of Medicine and Medical Literature Analysis and Retrieval System Online databases,both in English and Portuguese,using the key words:cystic fibrosis,medication,therapeutic,absorption,digestion.Randomized,observational,experimental,and epidemiological clinical studies were selected,among others,with statistical significance of 5%.This review evaluates the changes found in the digestive tract of CF patients including pancreatic insufficiency,constipation and liver diseases.Changes in nutritional status are also described.Clinical treatment,nutritional supplementation and drug management were classified in this review as essential to the quality of life of CF patients,and became available through public policies for monitoring and treating CF.The information gathered on CF and a multi professional approach to the disease is essential in the treatment of these patients. | Adriana Haack Giselle Gonalves Arago Maria Rita Carvalho Garbi Novaes | 2013 | World Journal of Gastroenterology2013，19，46： | 7 |
| 18 | Renal cell carcinoma: Evolving and emerging subtypes显示文摘Our knowledge of renal cell carcinoma(RCC) is rapidly expanding. For those who diagnose and treat RCC, it is important to understand the new developments. In recent years, many new renal tumors have been described and defined, and our understanding of the biology and clinical correlates of these tumors is changing. Evolving concepts in Xp11 translocation carcinoma, mucinous tubular and spindle cell carcinoma, multilocular cystic clear cell RCC, and carcinoma associated with neuroblastoma are addressed within this review. Tubulocystic carcinoma, thyroid-like follicular carcinoma of kidney, acquired cystic disease-associated RCC, and clear cell papillary RCC are also described. Finally, candidate entities, including RCC with t(6;11) translocation, hybrid oncocytoma/chromophobe RCC, hereditary leiomyomatosis and RCC syndrome, and renal angiomyoadenomatous tumor are reviewed. Knowledge of these new entities is important for diagnosis, treatment and subsequent prognosis. This review provides a targeted summary of new developments in RCC. | Suzanne M Crumley Mukul Divatia Luan Truong Steven Shen Alberto G Ayala Jae Y Ro | 2013 | World Journal of Clinical Cases2013，1，9： | 7 |
| 19 | Paediatric cholestatic liver disease:Diagnosis,assessment of disease progression and mechanisms of fibrogenesis显示文摘Cholestatic liver disease causes significant morbidity and mortality in children.The diagnosis and management of these diseases can be complicated by an inability to detect early stages of fibrosis and a lack of adequate interventional therapy.There is no single gold standard test that accurately reflects the presence of liver disease,or that can be used to monitor fibrosis progression,particularly in conditions such as cystic fibrosis.This has lead to controversy over how suspected liver disease in children is detected and diagnosed.This review discusses the challenges in using commonly available methods to diagnose hepatic fibrosis and monitor disease progression in children with cholestatic liver disease.In addition,the review examines the mechanisms hypothesised to be involved in the development of hepatic fibrogenesis in paediatric cholestatic liver injury which may ultimately aid in identifying new modalities to assist in both disease detection and therapeutic intervention. | Tamara N Pereira Meagan J Walsh Peter J Lewindon Grant A Ramm | 2010 | World Journal of Gastrointestinal Pathophysiology2010，1，2： | 7 |
| 20 | Intrauterine cystic adenomyosis:Report of two cases显示文摘BACKGROUND Cystic adenomyosis is a special type of adenomyosis. Its clinical manifestations lack specificity. Pelvic ultrasound and nuclear magnetic resonance imaging can help clarify the diagnosis. Because cystic uterine adenomyosis is rare in clinical work, it can be easily misdiagnosed or its diagnosis can be missed. Early surgical treatment and postoperative drug treatment can alleviate dysmenorrhea,menorrhagia, anemia, and other symptoms.CASE SUMMARY Two cases complained about abnormal vaginal bleeding and were diagnosed with intrauterine cystic adenomyosis by gynecological ultrasound and pathological examination. The clinical manifestations included dysmenorrhea,hypermenorrhea, and a history of cesarean section. Both cases underwent a surgery, and chocolate-like liquid was released from the cystic mass in the uterus and the manifestations were relieved.CONCLUSION Intrauterine cystic adenomyosis could be diagnosed by pathological examination and treated by hysterectomy or hystscopy to release the liquid inside. | Yan-Yan Fan Yi-Nan Liu Jia Li Yan Fu | 2019 | World Journal of Clinical Cases2019，7，5： | 7 |
您所在的机构暂未开通此部分的功能，请联系管理员