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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler tilman jobs.-s.hwan Ronen schneider Florian Buerger steve seltzsam sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria szczepanska Loai A.Eid Hazem s.Awad Muna Al-saffar Neveen A.soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.schierbaum sophia schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg shirlee shril shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Defining failure of endoluminal biliary drainage in the era of endoscopic ultrasound and lumen apposing metal stents

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World Journal of Gastroenterology 2024年第29期30卷 3534-3537页

作者： Faisal s Ali sushovan Guha Department of Gastroenterology Hepatologyand NutritionUniversity of Texas Health Science Center at HoustonHustonTX 77054United States Department of Clinical sciences Tilman J.Fertitta Family College of MedicineUniversity of HoustonHoustonTX 77204United States

The role of endoscopy in pathologies of the bile duct and gallbladder has seen notable advancements over the past two *** advancements in stent technology,such as the development of lumen-apposing metal stents,and adoption of endoscopic ultrasound and electrosurgical principles in therapeutic endoscopy,what was once considered endoscopic failure has transformed into failure of an approach that could be salvaged by a second-or third-line endoscopic *** of these advancements in routine patient care will require formal training and multidisciplinary acceptance of established techniques and collaboration for advancement of experimental techniques to generate robust evidence that can be utilized to serve patients to the best of our ability.

关键词： Endoscopic ultrasound Guided biliary drainage Gallbladder Biliary obstruction Lumen-apposing metal stent

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Transjugular portosystemic stent shunt in treatment of liver diseases

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World Journal of Gastroenterology 2001年第2期7卷 170-174页

作者： Michael schepke tilman sauerbruch Department of Internal Medicine I University of BonnBonnGermany

INTRODUCTIONMore than 10 years ago ,an interventional technique for the creation of an intrahepatic decompressive shunt between a branch of the portal vein and a main hepatic vein using expandable metallic stents has been intriduced for the treatmint of portal hypertension[1,2],This transjugular portosystemic intrahepatic stent shunt (TIPs) functions as a side to side shunt ,similarly to surgical shunts .

关键词： Portasystemic shunt, Transjugular Intrahepatic Gastrointestinal Hemorrhage control Humans Liver Diseases

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Enhancer-promoter communication:unraveling enhancer strength and positioning within a given topologically associating domain(TAD)

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signal Transduction and Targeted Therapy 2022年第9期7卷 3161-3162页

作者： Benedetto Daniele Giaimo tilman Borggrefe Institute of Biochemistry Justus-Liebig-University GiessenFriedrichstrasse 2435392 GiessenGermany

In a recent study published in Nature,Zuin et *** the molecular mechanisms of how enhancer positioning and strength affect gene expression levels.'Cell-type-specific transcription factors(TFs)and ubiquitously expressed cofactors regulate the complex network of eukar-yotic gene transcription in an exquisitely specific and sensitive *** DNA elements bound by TFs are called enhancers and can be located close to the transcription start site(Tss)or far away.

关键词： al. strength topological

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Evaluation of different crosslinking methods in altering the properties of extrusion-printed chitosan-basedmulti-material hydrogel composites

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Bio-Design and Manufacturing 2023年第2期6卷 150-173页

作者： suihong Liu Haiguang Zhang tilman Ahlfeld David Kilian Yakui Liu Michael Gelinsky Qingxi Hu Centre for Translational Bone Joint and Soft Tissue ResearchFaculty of Medicine and University Hospital Carl Gustav CarusTechnische Universität Dresden01307 DresdenGermany Rapid Manufacturing Engineering Center School of Mechatronic Engineering and AutomationShanghai UniversityShanghai 200444China shanghai Key Laboratory of Intelligent Manufacturing and Robotics School of Mechatronic Engineering and AutomationShanghai UniversityShanghai 200444China National Demonstration Center for Experimental Engineering Training Education Shanghai UniversityShanghai 200444China

Three-dimensional printing technologies exhibit tremendous potential in the advancing fields of tissue engineering and regenerative medicine due to the precise spatial control over depositing the *** their widespread utilization and numerous advantages,the development of suitable novel biomaterials for extrusion-based 3D printing of scaffolds that support cell attachment,proliferation,and vascularization remains a ***-material composite hydrogels present incredible potential in this ***,in this work,a multi-material composite hydrogel with a promising formulation of chitosan/gelatin functionalized with egg white was developed,which provides good printability and shape *** addition,a series of comparative analyses of different crosslinking agents and processes based on tripolyphosphate(TPP),genipin(GP),and glutaraldehyde(GTA)were investigated and compared to select the ideal crosslinking strategy to enhance the physicochemical and biological properties of the fabricated *** of the results indicate that the composite hydrogel and the resulting scaffolds utilizing TPP crosslinking have great potential in tissue engineering,especially for supporting neo-vessel growth into the scaffold and promoting angiogenesis within engineered tissues.

关键词： Multi-material composite hydrogel Crosslinking mechanism Chitosan Gelatin Egg white 3D printing

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Circulating tumor cells and their role in prostate cancer

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Asian Journal of Andrology 2019年第1期21卷 24-31页

作者： Moritz Maas Miriam Hegemann steffen Rausch Jens Bedke Arnulf stenzl tilman Todenhofer Department of Urology University Hospital TuebingenHoppe-Seyler-Strabe 3Tuebingen 72076Germany.

Circulating tumor cells (CTC)have become an important biomarker in patients with advanced prostate *** count has been demonstrated to be a prognostic factor for overall survival in patients with metastatic castration-resistant prostate cancer (mCRPC). In localized prostate cancer,a clear correlation between CTC counts and clinicopathological risk parameters and outcome has not been ***,the focus of research is shifting from CTC enumeration towards molecular characterization of CTC leading to the discovery of markers predicting treatment *** role of androgen receptor splice variants expressed by CTC as markers of resistance to abiraterone and enzalutamide has been assessed by various *** identification of CTC markers predicting treatment response represents a key step to guide the selection of treatment (e.g.,abiraterone/enzalutamide vs taxanes), particularly in patients with *** an alternative to CTC,the analysis of circulating tumor DNA has been shown to enable a noninvasive disease characterization having high potential to promote precision oncology.

关键词： AR-V7 biomarker cell-free DNA cfDNA circulating tumor cells ctDNA liquid biopsy prostate cancer

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skeletal endocrinology: where evolutionary advantage meets disease

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Bone Research 2021年第3期9卷 303-312页

作者： Nikolai Jaschke Wolfgang sipos Lorenz C.Hofbauer tilman D.Rachner Martina Rauner Department of Medicine III&Center for Healthy Aging Technische Universität DresdenDresdenGermany Clinical Department for Farm Animals University of Veterinary Medicine ViennaViennaAustria

The regulation of whole-body homeostasis by the skeleton is mediated by its capacity to secrete endocrine signaling *** bone-derived hormones confer several adaptive benefits,their physiological functions also involve trade-offs,thus eventually contributing to *** this manuscript,we discuss the origins and functions of two of the best-studied skeletal mediators,fibroblast growth factor 23 and osteocalcin,in an evolutionary ***,we provide a theoretical framework seeking to explain the broad involvement of these two hormones in amniote physiology as well as their potential to fuel the development and progression of *** versa,we outline which perturbations might be amenable to manipulation of these systems and discuss limitations and ongoing challenges in skeletal endocrine ***,we summarize unresolved questions and potential future studies in this thriving field.

关键词： involvement evolutionary eventually

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Current concepts and trends in the treatment of bone metastases in patients with advanced prostate cancer

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Asian Journal of Andrology 2019年第1期21卷 12-18页

作者： Miriam Hegemann Moritz Maas steffen Rausch simon Walz lens Bedke Arnulf stenzl tilman Todenhofer Department of Urology University Hospital TuebingenTuebingen 72076Germany.

Bone metastases have a major impact on quality of life and survival of patients with advanced prostate cancer,in the last decade,the development and approval of substances inhibiting the vicious cycle of bone metastases have enabled the reduction of complications caused by bone metastases in patients with castration-resistant prostate *** drugs have raised awareness of the importance of skeletal-related events which in the meantime represent an important end point also in trials using agents not specifically designed for bone ***-generation antihormona]drugs such as enzalutamide or abiraterone have been shown to have a positive impact on the incidence of skeletal complications and therefore provide an important tool in the armamentarium used for treating bone *** such as radium-223 dichloride([^223Ra])have been demonstrated not only to reduce skeletal-related events and bone-related pain,but also to prolong overall survival,thereby being the first bone-targeting agent showing a survival *** previous studies have not provided an obvious benefit of bone-targeted lesions in castration-sensitive disease,the use of these agents is not *** oligometastatic prostate cancer,the role of local treatment of metastases using stereotactic radiation or radiosurgery is a matter of intense debates and may play an increasing role in the future.

关键词： bone metastases bone-targeting agents denosumab hormonal therapy prostate cancer radium-223 dichloride zoledronic acid

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C-reactive protein is a prognostic indicator in patients with perihilar cholangiocarcinoma

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World Journal of Gastroenterology 2006年第34期12卷 5495-5500页

作者： Thomas Gerhardt sabine Milz Michael schepke Georg Feldmann Martin Wolff tilman sauerbruch Franz Ludwig Dumoulin Department of Internal Medicine I University Hospital Bonn Germany Department of surgery University Hospital Bonn Germany

AIM： To evaluate prognostic indicators for the outcome of patients with perihilar extrahepatic cholangiocarcinoma in an unselected cohort. METHODs： We retrospectively analyzed 98 patients with perihilar cholangiocarcinoma. Twenty-three patients （23.5%） underwent tumor resection. Patients with non-resectable tumors underwent either transpapillary or percutaneous transhepatic biliary drainage. Additionally, 32 patients （32.7%） received photodynamic therapy （PDT） and 18 patients （18.4%） systemic chemotherapy. Predefined variables at the time of diagnosis and characteristics considering the mode of treatment were entered into a Cox＇s proportional hazards model. Included in the analysis were age, tumor stage following the modified Bismuth-Corlette classification, bilirubin, prothrombin time （PT）, C-reactive protein （CRP）, carbohydrate antigen 19-9 （CA19-9）, history of weight loss, surgical resection, chemotherapy and PDT. REsULTs： The Kaplan-Meier estimate of overall median survival was 10.5 （95%CI： 8.4-12.6） mo. In the univariate analysis, low Bismuth stage, low CRP and surgical resection correlated significantly with better survival. In the multivariate analysis, only CRP （P = 0.005） and surgical resection （P = 0.029） were found to be independently predictive of survival in the cohort. Receiver operating characteristic （ROC） analysis identified a CRP level of 11.75 mg/L as the value associated with the highest sensitivity and specificity predicting a survival 〉 5 too. Applying Kaplan-Meier analysis, patients with a CRP 〈 12 mg/L at the time of diagnosis had a significantly longer median survival than patients with higher values （16.2 vs 7.6 mo; P = 0.009）.CONCLUsION： This retrospective analysis identified CRP level at the time of diagnosis as a novel indicator for the prognosis of patients with perihilar cholangiocarcinoma. It should be evaluated in future prospective trials on this entity.

关键词： Perihilar cholangiocarcinoma Prognosticfactors C-reactive protein Resection Outcome

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A common variant in the precursor miR-146a sequence does not predispose to cholangiocarcinoma in a large European cohort

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Hepatobiliary & Pancreatic Diseases International 2012年第4期11卷 412-417页

作者： Florentina Mihalache Aksana Hblinger Monica Acalovschi tilman sauerbruch Frank Lammert Vincent Zimmer Department of Medicine Ⅱ Saarland University Hospital66421 HomburgGermany Department of Medicine Ⅲ University Iuliu Hatieganu Department of Internal Medicine Ⅰ University Hospital Bonn

BACKGROUND:Micro-RNAs(miRNAs) are small,non-coding RNA species considered to fine-tune basic cellular functions by modulating target gene translation and/or mRNA stability.A common G/C polymorphism(rs2910164) in the precursor(pre-) miR-146a gene engaged in NF-κB signaling and apoptosis pathways has been reported to modulate the genetic risk of hepatocellular carcinoma by increased G-allelic production of mature *** investigated rs2910164 in a large Europeanbased cholangiocarcinoma(CCA) ***:We recruited 182 CCA patients and 350 controls in three academic medical *** for rs2910164 was performed by PCR-based assays with 5’-nuclease and fluorescence *** frequencies were tested for consistency with the Hardy-Weinberg equilibrium using an exact test;allelic and genotypic differences between the patients and controls were assessed by the Chi-square test and Armitage’s trend *** subgroup analyses included gender,tumor localization(extra-versus intrahepatic CCA) and early-onset ***:Genotype distributions were consistent with the Hardy-Weinberg *** significant differences in either allele or genotype distributions were detected between the CCA and control groups or the respective subgroups ***,there was a trend for a protective effect of the heterozygous single-nucleotide polymorphism state GC,as indicated by an underrepresentation in the CCA group in general(29% vs 35%;P=0.18) and,in particular,for extrahepatic tumor sites(26% vs 35%;OR=0.67;95% CI,0.43-1.02;P=0.065).CONCLUsIONs:Our data do not support a prominent contribution of the pre-miR-146a sequence variant in the genetic predisposition to ***,current studies functionally characterizing rs2910164 have proposed that distinct repertoires of target genes are addressed by genotype-specific mature miR146a *** the detected trend towards a potentially protective role of GC heterozygosity,a subtle modulation of g

关键词： miR-146a miR-sNP biliary tract cancer cholangiocarcinoma genetic risk

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