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Cell Commun Signal 2018 Dec 5;16(1):96. Epub 2018 Dec 5.

Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.

Background: Human pluripotent stem cells (PSCs) open new windows for basic research and regenerative medicine due to their remarkable properties, i.e. their ability to self-renew indefinitely and being pluripotent. Read More

Hum Mol Genet 2018 Nov 27. Epub 2018 Nov 27.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.

Noonan syndrome (NS), the most common RASopathy, is caused by mutations affecting signaling through RAS and the MAPK cascade. Recently, genome scanning has discovered novel genes implicated in NS, whose function in RAS-MAPK signaling remains obscure, suggesting the existence of unrecognized circuits contributing to signal modulation in this pathway. Among these genes, LZTR1 encodes a functionally poorly characterized member of the BTB/POZ protein superfamily. Read More

JMIR Cancer 2018 Nov 20;4(2):e10703. Epub 2018 Nov 20.

Hector Center for Nutrition, Exercise, and Sports, Department of Internal Medicine 1, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.

Background: Catabolism and tumor-specific therapy lead to reduced nutrient intake and weight loss in cancer patients. Maintaining a specific individualized diet can be challenging for the patient as the nutritional counseling options are limited. Monitoring of nutrient intake and frequent feedback are, however, vital for successful nutritional therapy because they support the patient's compliance and realization of dietary therapeutic goals. Read More

Am J Hum Genet 2018 Nov;103(5):752-768

Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia; School of Biomedical Sciences, The Faculty of Medicine Brisbane, The University of Queensland, Brisbane, QLD 4072, Australia.

The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Read More

Mol Nutr Food Res 2018 Oct 31:e1800076. Epub 2018 Oct 31.

Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University, Magdeburg, 39120, Germany.

Scope: Diet is amongst the most crucial factors contributing to the multistep process of carcinogenesis. The role of exogenous microRNAs (miRNAs) is still debatable. In this proof-of-principle work, the presence of miRNAs in a variety of foods, its stability to processing, and detectability in GI mucosa and feces are studied and the effect of short-term diet on human- or plant-derived miRNAs in feces and blood is examined. Read More

Kidney Int 2018 Nov;94(5):1027

University Clinic for Nephrology and Hypertension, Diabetes and Endocrinology, Otto-von-Guericke-University, Magdeburg, Germany. Electronic address:

Gastrointest Endosc 2018 Oct 17. Epub 2018 Oct 17.

Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida. Electronic address:

Background And Aims: Incision of the cricopharyngeal (CP) muscle with flexible endoscopy is an important approach for Zenker diverticulum (ZD) repair with symptomatic resolution in approximately 90% of cases, but recurrence has been reported in up to 20%. We report our experience with a new endoscopic myectomy of the CP muscle and compare the outcome with conventional myotomy of ZD.

Methods: Our retrospective study included all patients with ZD who underwent endoscopic repair between August 1, 2014, and July 31, 2017. Read More

Hum Mutat 2018 Nov;39(11):1485-1493

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

The RASopathies are a complex group of conditions regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel (RAS EP) assessed published and other publicly available evidence supporting the association of 19 genes with RASopathy conditions. Using the semiquantitative literature curation method developed by the ClinGen Gene Curation Working Group, evidence for each gene was curated and scored for Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome, NS with multiple lentigines, and Noonan-like syndrome with loose anagen hair. Read More

Am J Med Genet A 2018 Oct 10:e40632. Epub 2018 Oct 10.

Department of Ophthalmology, Neuroscience Program, University of California, San Francisco, San Francisco, California.

This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. Read More

Medicine (Baltimore) 2018 Oct;97(40):e12449

Department of Thoracic and Cardiovascular Surgery, University Medical Center, Georg-August University, Göttingen.

The prosthetic surgical above-knee bypass (pAKB) is a standard therapy in superficial femoral artery (SFA) occlusive disease in absence of suitable vein. Viabahn graft has been established as a promising alternative. Since limited comparative data are available, we conducted a retrospective study to compare long-term outcomes of these 2 therapies in a real-world setting. Read More

Thorac Surg Clin 2018 Nov;28(4):507-520

Thoracic Oncology, Advanced GI, Thoracic Fellowships, Division of Thoracic Surgery, Swedish Cancer Institute, 1101 Madison Street, Suite 900, Seattle, WA 98104, USA. Electronic address:

Endoscopic cricopharyngeal myotomy has been demonstrated to be a safe and efficacious procedure with favorable outcomes for the treatment of cricopharyngeal dysfunction with or without Zenker diverticulum. It is a less invasive approach with decreased morbidity compared with the open approach and minimal reported complications. Peroral endoscopic pyloromyotomy is a novel technique for the treatment of gastroparesis. Read More

Genet Med 2018 Sep 27. Epub 2018 Sep 27.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article. Read More

Ecology 2018 Sep 17. Epub 2018 Sep 17.

Programa de Capacitação Institucional, Instituto Nacional de Pesquisas da Amazônia, Av. André Araújo 2936, 69067-375, Manaus, Amazonas, Brazil.

The vertebrate tear-feeding (lachryphagy) on birds by moths is a rarely documented event, with only two known records from Madagascar (Hilgartner et al. 2007) and Colombia (Sazima 2015). In these events, the moths insert their morphologically adapted proboscis (Zaspel et al. Read More

Endocr Metab Immune Disord Drug Targets 2018 Sep 10. Epub 2018 Sep 10.

Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, Interdisciplinary Department of Medicine, University of Bari, School of Medicine, Policlinico, Bari,. Italy.

Background And Objective: Zenker diverticulum (ZD) can sometimes be misinterpreted as a thyroid nodule both at clinical evaluation and at ultrasound (US).

Case Presentation: We reported the case of a 46-years-old woman complaining of a lump in the anterior left aspect of the neck. Following clinical examination and US evaluation, a thyroid nodule was initially diagnosed and the patient was referred to our institution to be submitted to a fine-needle aspiration cytology. Read More

Int J Vasc Med 2018 16;2018:7205903. Epub 2018 Aug 16.

Department for Thoracic, Cardiac, and Vascular Surgery, University of Göttingen, Göttingen, Germany.

Objective: Carotid artery stenosis in patients undergoing open-heart surgery may increase risk and deteriorate outcome. The aim of the study was the analysis of risks and outcome after simultaneous carotid and cardiac surgery.

Methods: We retrospectively reviewed the medical records of 100 consecutive patients who underwent simultaneous carotid surgery and open-heart surgery during a 5-year period (from 2006 to 2010). Read More

Clin Nucl Med 2018 Nov;43(11):e410-e411

From the Fondazione Policlinico A. Gemelli IRCCS-Università Cattolica Sacro Cuore, and.

A 72-year-old man underwent total thyroidectomy and radioiodine remnant ablation for papillary thyroid cancer in 2016. The posttherapy whole-body scan showed uptake in the neck, classified as residual thyroid tissue. Two years later, the patient came to our observation to perform a second radioiodine therapy for high levels of thyroglobulin. Read More

Genet Med 2018 Aug 29. Epub 2018 Aug 29.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

The original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now been corrected in the HTML, the PDF was correct at the time of publication. Read More

Rev Gastroenterol Peru 2018 Apr-Jun;38(2):211-212

Fundación Universitaria de Ciencias de la Salud. Bogotá, Colombia; Sociedad de Cirugía de Bogotá. Bogotá, Colombia.

Clin Res Cardiol 2018 Aug 13. Epub 2018 Aug 13.

Department of Child Neurology, Justus-Liebig University, Giessen, Germany.

Background: Previous investigations assessing the genetic cause of pediatric hypertrophic cardiomyopathy (HCM) found underlying genetic mutations in 50-60% of cases. The purpose of our study was to analyze whether this number can be augmented by applying next-generation sequencing and directing further diagnostics by discussing unsolved cases in a multidisciplinary board.

Methods And Results: 42 patients with the diagnoses of HCM made before age 18 years were treated in our center from 2000 to 2016. Read More

Front Immunol 2018 27;9:1735. Epub 2018 Jul 27.

Department of Internal Medicine I, University of Tübingen, Tübingen, Germany.

Background & Aims: Knowledge about innate antimicrobial defense of the liver is limited. We investigated hepatic expression and regulation of antimicrobial peptides with focus on the human beta defensin-1 (hBD-1).

Methods: Radial diffusion assay was used to analyze antimicrobial activity of liver tissue. Read More

Genet Med 2018 Aug 10. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.

Results: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g. Read More

Indian J Cancer 2017 Oct-Dec;54(4):621-625

Department of Head and Neck Surgery, Tata Memorial Hospital, Mumbai, Maharashtra, India.

Background: Total laryngectomy (TL) is a well-established procedure for laryngeal and hypopharyngeal cancers. There is an increasing number of TLs done after organ preservation strategies.

Aim: The aim of this study was to report 30-day morbidity and survival outcomes in patients undergoing TL at a tertiary referral center. Read More

Cir Cir 2018 ;86(4):355-358

Servicio de Gastrocirugía, Hospital de Especialidades del Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, México.

Introducción: Los divertículos de Zenker son los divertículos más frecuentes del esófago. El tratamiento quirúrgico más utilizado es la diverticulectomía con miotomía del cricofaríngeo abierta. En años recientes se ha propuesto el tratamiento endoscópico. Read More

Methods Inf Med 2018 07 17;57(S 01):e92-e105. Epub 2018 Jul 17.

Introduction: This article is part of the Focus Theme of Methods of Information in Medicine on the German Medical Informatics Initiative. "Smart Medical Information Technology for Healthcare (SMITH)" is one of four consortia funded by the German Medical Informatics Initiative (MI-I) to create an alliance of universities, university hospitals, research institutions and IT companies. SMITH's goals are to establish Data Integration Centers (DICs) at each SMITH partner hospital and to implement use cases which demonstrate the usefulness of the approach. Read More

Cir Cir 2018 ;86(3):244-249

Departamento de Cirugía General, Hospital General de México Dr. Eduardo Liceaga, Ciudad de México, México.

Introducción: El divertículo de Zenker es una enfermedad rara en la población general. Su tratamiento puede llevarse a cabo mediante un enfoque endoscópico o quirúrgico.

Objetivo: Reportar la experiencia en el manejo del divertículo de Zenker en un centro de enseñanza de tercer nivel. Read More

Gastroenterol Hepatol (N Y) 2018 Apr;14(4):224-232

Dr Nabi and Dr Ramchandani are consultant gastroenterologists and Dr Reddy is chairman and chief gastroenterologist at the Asian Institute of Gastroenterology in Hyderabad, India.

The capabilities of interventional gastrointestinal endoscopy have significantly increased over the past several decades. Improvements in devices and techniques have eased the transfer of novel concepts from bench to bedside. The concept of submucosal endoscopy with mucosal flap safety valve has enabled endoscopists to securely use submucosal space, or third space. Read More

Hum Mutat 2018 Sep 4;39(9):1246-1261. Epub 2018 Jul 4.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution of mutations in large cohorts are currently limited. Read More

Dev Cell 2018 06;45(6):667-679

Institute of Molecular and Cell Biology, A(∗)STAR, 61 Biopolis Drive, Singapore 138673; Department of Biochemistry, NUS, Singapore. Electronic address:

The preimplantation mouse embryo is a simple self-contained system, making it an excellent model to discover how mammalian cells function in real time and in vivo. Work over the last decade has revealed some key morphogenetic mechanisms that drive early development, yielding rudimentary instructions for the generation of a mammalian embryo. Here, we review the instructions revealed thus far, and then discuss remaining challenges to discover upstream factors controlling cell fate determination, test the role of mechanisms based on biological noise, and take advantage of recent technological developments to advance the spatial and temporal resolution of our current understanding. Read More

Hum Mutat 2018 Sep 25;39(9):1226-1237. Epub 2018 Jun 25.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Read More

Eur J Anaesthesiol 2018 Jul;35(7):539-540

From the Department of Anaesthesiology and Intensive Care Medicine, University of Bonn, Bonn (NK, TB, SZ, AH); Department of Gyncology and Obtetrics, St. Franziskus Hopital, Hohenzollernring, Muenster (CR), Germany.

Nat Commun 2018 05 17;9(1):1960. Epub 2018 May 17.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. Read More

Genet Med 2018 06 12;20(6):630-638. Epub 2017 Oct 12.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth. Read More

Medicine (Baltimore) 2018 May;97(19):e0557

Department of Gastrointestinal and General Surgery, Medical University of Wroclaw, Wroclaw, Poland.

The purpose of this retrospective study is to show that transcervical diverticulectomy (TD) in treatment of Zenker diverticulum (ZD) can still be a first choice procedure in selected patients and in experienced hands its safety might be compared to the minimally invasive endoscopic diverticulostomy.The study cohort consisted of 44 patients (18 male, 26 female) operated for (ZD). All the patients underwent open diverticulectomy. Read More

Front Psychol 2018 24;9:460. Epub 2018 Apr 24.

Department of Philosophy, Lund University, Lund, Sweden.

In psychology as elsewhere, the main statistical inference strategy to establish empirical effects is null-hypothesis significance testing (NHST). The recent failure to replicate allegedly well-established NHST-results, however, implies that such results lack sufficient statistical power, and thus feature unacceptably high error-rates. Using data-simulation to estimate the error-rates of NHST-results, we advocate the (RPS) as a superior methodology. Read More

PLoS Genet 2018 05 7;14(5):e1007370. Epub 2018 May 7.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

RIT1 belongs to the RAS family of small GTPases. Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively. By using heterologous expression systems and purified recombinant proteins, we identified the p21-activated kinase 1 (PAK1) as novel direct effector of RIT1. Read More

Chirurgia (Bucur) 2018 Mar-Apr;113(2):234-243

The Zenker Diverticulum is a rare pathology, the selection of patients for invasive treatments is questionable, as well as the applied therapeutic method. The aim of the study is to evaluate the main methods of classical and endoscopic surgical treatment in this pathology and to correlate pathophysiological aspects with clinical consequences.

Material And Method: We included 36 patients with Zenker hypopharyngeal diverticulum treated in 2010/2017 in two university clinics: 7 patients by classical surgical approach at the General and Esophageal Surgery Clinic of St. Read More

Theranostics 2018 23;8(9):2407-2423. Epub 2018 Mar 23.

Institute of Immunology, University of Münster, 48149 Münster, Germany.

Recruitment of leukocytes from the blood to sites of inflammation poses a promising target for new diagnostic and therapeutic approaches. We aimed to develop a novel method to non-invasively analyze molecular mechanisms of leukocyte migration in pre-clinical models of inflammation . We used the ER-HoxB8 system to transiently immortalize murine myeloid precursors from and CD18- as well as MRP14-deficient mice. Read More

Nanomaterials (Basel) 2018 Apr 22;8(4). Epub 2018 Apr 22.

ELPAR Cable Factory, Laskowska str. 1, 21200 Parczew, Poland.

In this paper, the electrical and thermal conductivity and morphological behavior of low density polyethylene (LDPE)/multi-walled carbon nanotubes (MWCNTs) + graphene nanoplatelets (GNPs) hybrid nanocomposites (HNCs) have been studied. The distribution of MWCNTs and the hybrid of MWCNTs/GNPs within the polymer matrix has been investigated with scanning electron microscopy (SEM). The results showed that the thermal and electrical conductivity of the LDPE-based nanocomposites increased along with the increasing content of carbon nanofillers. Read More

Cell 2018 Apr;173(3):544-545

Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI 48824, USA. Electronic address:

A new study by Zenker et al. uses time-lapse imaging to discover how dynamic actin movements contribute to epithelialization of living mouse embryos. Together with work from other labs, this study presents exciting new ways to think about the emergence of cell fates during mammalian development. Read More

J Hypertens 2018 Aug;36(8):1762-1769

Department of Nephrology and Rheumatology.

Objective: Unlike safety data of baroreflex activation therapy device (Rheos), only few data of the currently used second device (Barostim neo) are available and little is reported about common side effects.

Methods: We prospectively analyzed patients with resistant hypertension treated with Barostim neo. A standardized interview regarding side effects of the therapy was performed in routine follow-up visits after device implantation in 42 patients to determine adverse events staged into three degrees. Read More

J Dig Dis 2018 Apr 19;19(4):204-214. Epub 2018 Apr 19.

Division of Digestive Diseases, Emory University, Atlanta, Georgia, USA.

Objective: The aim of this study was to assess the efficacy and safety following endoscopic management of Zenker's diverticulum (ZD) using a needle-knife technique.

Methods: A systematic search of PubMed, Embase and Cochrane library databases was performed. All original studies reporting efficacy and safety of needle-knife technique for treatment of ZD were included. Read More

JAMA Otolaryngol Head Neck Surg 2018 May;144(5):461-462

Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia.

Endosc Int Open 2018 Apr 29;6(4):E470-E473. Epub 2018 Mar 29.

University of Milan, Department of Biomedical Sciences for Health, Division of General Surgery, IRCCS Policlinico San Donato, Milan, Italy.

Background And Study Aims : Endoscopic treatment of Zenker's diverticulum has proven feasible, but electrocautery and CO laser technology carry the risk of collateral thermal injury. Thulium laser septum incision may overcome this limitation. We describe for the first time the use of thulium laser through flexible endoscopy in a small cohort of patients with Zenker diverticulum. Read More

J Clin Invest 2018 May 3;128(5):1852-1866. Epub 2018 Apr 3.

Institute of Immunology, and.

Autoimmune diseases, such as psoriasis and arthritis, show a patchy distribution of inflammation despite systemic dysregulation of adaptive immunity. Thus, additional tissue-derived signals, such as danger-associated molecular patterns (DAMPs), are indispensable for manifestation of local inflammation. S100A8/S100A9 complexes are the most abundant DAMPs in many autoimmune diseases. Read More

Cell 2018 Apr 22;173(3):776-791.e17. Epub 2018 Mar 22.

Institute of Molecular and Cell Biology, A(∗)STAR, Singapore; Department of Biochemistry, National University of Singapore, Singapore. Electronic address:

Transformation from morula to blastocyst is a defining event of preimplantation embryo development. During this transition, the embryo must establish a paracellular permeability barrier to enable expansion of the blastocyst cavity. Here, using live imaging of mouse embryos, we reveal an actin-zippering mechanism driving this embryo sealing. Read More

Best Pract Res Clin Gastroenterol 2017 Dec 12;31(6):649-656. Epub 2017 Oct 12.

Biological Chemistry Laboratory, Institute of Chemistry, Universidade Estadual de Campinas, CP 6154, 13083-970, Campinas, SP, Brazil; NanoBioss, Institute of Chemistry, Universidade Estadual de Campinas, Campinas, SP, Brazil; LNNano (CNPEM), Campinas, SP, Brazil. Electronic address:

Chromobacterium violaceum is a Gram negative, β-proteobacterium found in the microbiota of tropical and subtropical environments. Although considered an opportunistic pathogen, infection rapidly progress to fatal sepsis, with metastatic abscesses. It is noteworthy the multidrug resistant phenotype of C. Read More