The ATM gene is mutated in the syndrome,ataxia-telangiectasia(AT),which is characterized by predisposition to cancer.Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in ATM,patients...The ATM gene is mutated in the syndrome,ataxia-telangiectasia(AT),which is characterized by predisposition to cancer.Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in ATM,patients with AT have an elevated risk of breast and brain tumors.An increased frequency of ATM mutations has also been reported in patients with breast and brain tumors;however,the magnitude of this risk remains uncertain.With the exception of a few common mutations,the spectrum of ATM alterations is heterogeneous in diverse populations,and appears to be remarkably dependent on the ethnicity of patients.This review aims to provide an easily accessible summary of common variants in different populations which could be useful in ATM screening programs.In addition,we have summarized previous research on ATM,including its molecular functions.We attempt to demonstrate the significance of ATM in exploration of breast and brain tumors and its potential as a therapeutic target.展开更多
Background Takotsubo syndrome （TS） is an important cardiac disease that affects predominantly postmenopausal women. This study was conducted to determine the impact of age on the short- and long-term outcome of TS p...Background Takotsubo syndrome （TS） is an important cardiac disease that affects predominantly postmenopausal women. This study was conducted to determine the impact of age on the short- and long-term outcome of TS patients. Methods ＆ Results The data from a collective of 114 TS patients with a mean follow-up of 1591 ：E 1079 days was retrospectively analysed. The study population was divided into two groups （≤ 65 and 〉 65 years） so as to evaluate the impact of age on the short- and long-term mortality of TS patients. In-hospital eventslike life-threatening arrhythmias （14.58% vs. 9.09%; P = 0.036）, need for mechanical respiratory support （41.66% vs. 28.78%; P = 0.15） as well as inotropic agent use （22.91% vs. 15.15%; P = 0.29）, although not reaching the statistical cut-of, tended to occur more often in the younger group. Heart failure was more common in the elderly age group （P = 0.03）. The use of multivariate analysis ruled out age as a significant marker of long term mortality （HR： 1.0; 95% CI： 0.9-1.0; P = 0.60）. Conclusions Age does not influence the clinical course of TS in terms of the short- as well as long-term outcome. The study revealed a higher incidence of life threatening arrhythmias in the younger patient age-group and a higher incidence of heart failure among the older group of patients.展开更多
Endoscopic ultrasonography (EUS) has gained wide acceptance as an important, minimally invasive diagnostic tool in gastroenterology, pulmonology, visceral surgery and oncology. This review focuses on data regarding ri...Endoscopic ultrasonography (EUS) has gained wide acceptance as an important, minimally invasive diagnostic tool in gastroenterology, pulmonology, visceral surgery and oncology. This review focuses on data regarding risks and complications of non-interventional diagnostic EUS and EUS-guided fine-needle biopsy (EUS-FNB). Measures to improve the safety of EUS und EUS-FNB will be discussed. Due to the specific mechanical properties of echoendoscopes in EUS, there is a low but noteworthy risk of perforation. To minimize this risk, endoscopists should be familiar with the specific features of their equipment and their patients' specific anatomical situations (e.g., tumor stenosis, diverticula). Most diagnostic EUS complications occur during EUS-FNB. Pain, acute pancreatitis, infection and bleeding are the primary adverse effects, occurring in 1% to 2% ofpatients. Only a few cases of needle tract seeding and peritoneal dissemination have been reported. The mortality associated with EUS and EUS-FNB is 0.02%. The risks associated with EUS-FNB are affected by endoscopist experience and target lesion. EUS-FNB of cystic lesions is associated with an increased risk of infection and hemorrhage. Peri-interventional antibiotics are recommended to prevent cyst infection. Adequate education and training, as well consideration of contraindications, are essential to minimize the risks of EUS and EUS-FNB. Restricting EUS-FNB only to patients in whom the cytopathological results may be expected to change the course of management is the best way of reducing the number of complications.展开更多
文摘The ATM gene is mutated in the syndrome,ataxia-telangiectasia(AT),which is characterized by predisposition to cancer.Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in ATM,patients with AT have an elevated risk of breast and brain tumors.An increased frequency of ATM mutations has also been reported in patients with breast and brain tumors;however,the magnitude of this risk remains uncertain.With the exception of a few common mutations,the spectrum of ATM alterations is heterogeneous in diverse populations,and appears to be remarkably dependent on the ethnicity of patients.This review aims to provide an easily accessible summary of common variants in different populations which could be useful in ATM screening programs.In addition,we have summarized previous research on ATM,including its molecular functions.We attempt to demonstrate the significance of ATM in exploration of breast and brain tumors and its potential as a therapeutic target.
文摘Background Takotsubo syndrome （TS） is an important cardiac disease that affects predominantly postmenopausal women. This study was conducted to determine the impact of age on the short- and long-term outcome of TS patients. Methods ＆ Results The data from a collective of 114 TS patients with a mean follow-up of 1591 ：E 1079 days was retrospectively analysed. The study population was divided into two groups （≤ 65 and 〉 65 years） so as to evaluate the impact of age on the short- and long-term mortality of TS patients. In-hospital eventslike life-threatening arrhythmias （14.58% vs. 9.09%; P = 0.036）, need for mechanical respiratory support （41.66% vs. 28.78%; P = 0.15） as well as inotropic agent use （22.91% vs. 15.15%; P = 0.29）, although not reaching the statistical cut-of, tended to occur more often in the younger group. Heart failure was more common in the elderly age group （P = 0.03）. The use of multivariate analysis ruled out age as a significant marker of long term mortality （HR： 1.0; 95% CI： 0.9-1.0; P = 0.60）. Conclusions Age does not influence the clinical course of TS in terms of the short- as well as long-term outcome. The study revealed a higher incidence of life threatening arrhythmias in the younger patient age-group and a higher incidence of heart failure among the older group of patients.
文摘Endoscopic ultrasonography (EUS) has gained wide acceptance as an important, minimally invasive diagnostic tool in gastroenterology, pulmonology, visceral surgery and oncology. This review focuses on data regarding risks and complications of non-interventional diagnostic EUS and EUS-guided fine-needle biopsy (EUS-FNB). Measures to improve the safety of EUS und EUS-FNB will be discussed. Due to the specific mechanical properties of echoendoscopes in EUS, there is a low but noteworthy risk of perforation. To minimize this risk, endoscopists should be familiar with the specific features of their equipment and their patients' specific anatomical situations (e.g., tumor stenosis, diverticula). Most diagnostic EUS complications occur during EUS-FNB. Pain, acute pancreatitis, infection and bleeding are the primary adverse effects, occurring in 1% to 2% ofpatients. Only a few cases of needle tract seeding and peritoneal dissemination have been reported. The mortality associated with EUS and EUS-FNB is 0.02%. The risks associated with EUS-FNB are affected by endoscopist experience and target lesion. EUS-FNB of cystic lesions is associated with an increased risk of infection and hemorrhage. Peri-interventional antibiotics are recommended to prevent cyst infection. Adequate education and training, as well consideration of contraindications, are essential to minimize the risks of EUS and EUS-FNB. Restricting EUS-FNB only to patients in whom the cytopathological results may be expected to change the course of management is the best way of reducing the number of complications.
