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Educational Paper Ciliopathies
Eur J Pediatr (2012) 171:1285–1300 DOI 10.1007/s00431-011-1553-z REVIEW Educational paper Ciliopathies Carsten Bergmann Received: 11 June 2011 /Accepted: 3 August 2011 /Published online: 7 September 2011 # The Author(s) 2011. This article is published with open access at Springerlink.com Abstract Cilia are antenna-like organelles found on the (NPHP) . Ivemark syndrome . Meckel syndrome (MKS) . surface of most cells. They transduce molecular signals Joubert syndrome (JBTS) . Bardet–Biedl syndrome (BBS) . and facilitate interactions between cells and their Alstrom syndrome . Short-rib polydactyly syndromes . environment. Ciliary dysfunction has been shown to Jeune syndrome (ATD) . Ellis-van Crefeld syndrome (EVC) . underlie a broad range of overlapping, clinically and Sensenbrenner syndrome . Primary ciliary dyskinesia genetically heterogeneous phenotypes, collectively (Kartagener syndrome) . von Hippel-Lindau (VHL) . termed ciliopathies. Literally, all organs can be affected. Tuberous sclerosis (TSC) . Oligogenic inheritance . Modifier. Frequent cilia-related manifestations are (poly)cystic Mutational load kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous Introduction system, occurring either isolated or as part of syn- dromes. Characterization of ciliopathies and the decisive Defective cellular organelles such as mitochondria, perox- role of primary cilia in signal transduction and cell isomes, and lysosomes are well-known -
Histological Tumour Type (Required)
Histological tumour type (Required) Reason/Evidentiary Support All ovarian epithelial malignancies and borderline tumours should be typed according to the WHO classification.1 There are 5 major subtypes of primary ovarian carcinoma, high‐grade serous, clear cell, endometrioid, mucinous and low‐ grade serous.2‐5 There are also other uncommon minor subtypes, those listed by the WHO including malignant Brenner tumour, seromucinous carcinoma and undifferentiated carcinoma.1 Carcinosarcoma is a mixed epithelial and mesenchymal malignancy but is included in the category of epithelial malignancies in this dataset since most are of epithelial origin and histogenesis.6 Although management of ovarian carcinoma is, at present, largely dependent on tumour stage and grade, accurate typing will almost certainly become more important in the future with the introduction of targeted therapies and specific treatments for different tumour types. This is in part because, although clinically often considered as one disease, there is an increasing realisation that the different morphological subtypes of ovarian carcinoma have a different pathogenesis, are associated with distinct molecular alterations and have a different natural history, response to traditional chemotherapy and prognosis.2‐5 Tumour typing may also be important in identifying or initiating testing for an underlying genetic predisposition; for example, high‐grade serous carcinoma may be associated with underlying BRCA1/2 mutation while endometrioid and clear cell carcinomas can occur in patients with Lynch syndrome.7 The most common ovarian carcinoma is high‐grade serous carcinoma (approximately 70%) followed by clear cell and endometrioid.8,9 Mucinous and low‐grade serous are less common. Approximately 90% of advanced stage ovarian carcinomas (stage III/IV) are high‐grade serous in type.8,9 Most primary tubal carcinomas are high‐grade serous or endometrioid and most primary peritoneal carcinomas are of high‐grade serous type. -
Unraveling the Genetics of Joubert and Meckel-Gruber Syndromes
Journal of Pediatric Genetics 3 (2014) 65–78 65 DOI 10.3233/PGE-14090 IOS Press Unraveling the genetics of Joubert and Meckel-Gruber syndromes Katarzyna Szymanska, Verity L. Hartill and Colin A. Johnson∗ Department of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK Received 27 May 2014 Revised 11 July 2014 Accepted 14 July 2014 Abstract. Joubert syndrome (JBTS) and Meckel-Gruber syndrome (MKS) are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review, we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each other and other ciliopathies. Recent advances in genetic technology have significantly improved diagnosis and clinical management of ciliopathy patients, with the delineation of some general genotype-phenotype correlations. We highlight those that are most relevant for clinical practice, including the correlation between TMEM67 mutations and the JBTS variant phenotype of COACH syndrome. The subcellular localization of the known MKS and JBTS proteins is now well-described, and we discuss some of the contemporary ideas about ciliopathy disease pathogenesis. Most JBTS and MKS proteins localize to a discrete ciliary compartment called the transition zone, and act as structural components of the so-called “ciliary gate” to regulate the ciliary trafficking of cargo proteins or lipids. Cargo proteins include enzymes and transmembrane proteins that mediate intracellular signaling. The disruption of transition zone function may contribute to the ciliopathy phenotype by altering the composition of the ciliary membrane or axoneme, with impacts on essential developmental signaling including the Wnt and Shh pathways as well as the regulation of secondary messengers such as inositol-1,4,5-trisphosphate (InsP3) and cyclic adenosine monophosphate (cAMP). -
Lameness in Fattening Pigs – Mycoplasma Hyosynoviae, Osteochondropathy and Reduced Dietary Phosphorus Level As Three Infuencing Factors: a Case Report
Lameness in fattening pigs – Mycoplasma hyosynoviae, osteochondropathy and reduced dietary phosphorus level as three inuencing factors: A case report Birte Wegner Veterinary Practice Duemmerland Jörg Tenhündfeld Vetland Dr. Tenhündfeld & Kollegen Johanna Vogels Stiftung Tierarztliche Hochschule Hannover Marius Beumer Stiftung Tierarztliche Hochschule Hannover Josef Kamphues Stiftung Tierarztliche Hochschule Hannover Florian Hansmann Stiftung Tierarztliche Hochschule Hannover Hanna Rieger Stiftung Tierarztliche Hochschule Hannover Elisabeth grosse Beilage Stiftung Tierarztliche Hochschule Hannover Isabel Hennig-Pauka ( [email protected] ) University of Veterinary Medicine Hannover https://orcid.org/0000-0003-3994-5979 Case report Keywords: Locomotor disorder, mineral supply, Mycoplasma hyosynoviae, nutrition, swine Posted Date: September 25th, 2020 DOI: https://doi.org/10.21203/rs.3.rs-35962/v2 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/28 Version of Record: A version of this preprint was published on December 15th, 2020. See the published version at https://doi.org/10.1186/s40813-020-00184-w. Page 2/28 Abstract Background: Multiple diagnostic procedures, their results and interpretation in a case with severe lameness in fattening pigs are described. It is shown that selected diagnostic steps lead to identication of various risk factors for disease development in the affected herd. One focus of this case report is the prioritization of diagnostic steps to verify the impact of the different conditions, which nally led to the clinical disorder. Disease is the consequence of previously acting factors, and the involved diagnostic institute is the last stage in the timeline. Some diagnostic ndings might therefore no longer be signicant. -
Ursodeoxycholic Acid in Advanced Polycystic Liver Disease: a Phase 2 Multicenter Randomized Controlled Trial
Research Article Ursodeoxycholic acid in advanced polycystic liver disease: A phase 2 multicenter randomized controlled trial Hedwig M.A. D’Agnolo1, Wietske Kievit2, R. Bart Takkenberg3, Ioana Riaño4, Luis Bujanda4, ⇑ Myrte K. Neijenhuis1, Ellen J.L. Brunenberg5, Ulrich Beuers3, Jesus M. Banales4, Joost P.H. Drenth1, 1Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands; 2Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands; 3Department of Gastroenterology and Hepatology, Amsterdam Medical Center, Amsterdam, The Netherlands; 4Department of Liver and Gastrointestinal Diseases, Biodonostia Research Institute – Donostia University Hospital, University of the Basque Country (UPV/EHU), IKERBASQUE, CIBERehd, San Sebastián, Spain; 5Department of Radiation Oncology, Radboud University Medical Center, Nijmegen, The Netherlands Background & Aims: Ursodeoxycholic acid (UDCA) inhibits pro- (p = 0.493). LCV was not different after 24 weeks between con- liferation of polycystic human cholangiocytes in vitro and hepatic trols and UDCA treated patients (p = 0.848). However, UDCA cystogenesis in a rat model of polycystic liver disease (PLD) inhibited LCV growth in ADPKD patients compared to ADPKD in vivo. Our aim was to test whether UDCA may beneficially affect controls (p = 0.049). liver volume in patients with advanced PLD. Conclusions: UDCA administration for 24 weeks did not reduce Methods: We conducted an international, multicenter, random- TLV in advanced PLD, but UDCA reduced LCV growth in ADPKD ized controlled trial in symptomatic PLD patients from three ter- patients. Future studies might explore whether ADPKD and tiary referral centers. Patients with PLD and total liver volume ADPLD patients respond differently to UDCA treatment. (TLV) P2500 ml were randomly assigned to UDCA treatment Lay summary: Current therapies for polycystic liver disease are (15–20 mg/kg/day) for 24 weeks, or to no treatment. -
Tutankhamun's Dentition: the Pharaoh and His Teeth
Brazilian Dental Journal (2015) 26(6): 701-704 ISSN 0103-6440 http://dx.doi.org/10.1590/0103-6440201300431 1Department of Oral and Maxillofacial Tutankhamun’s Dentition: Surgery, University Hospital of Leipzig, Leipzig, Germany The Pharaoh and his Teeth 2Institute of Egyptology/Egyptian Museum Georg Steindorff, University of Leipzig, Leipzig, Germany 3Department of Orthodontics, University Hospital of Greifswald, Greifswald, Germany Niels Christian Pausch1, Franziska Naether2, Karl Friedrich Krey3 Correspondence: Dr. Niels Christian Pausch, Liebigstraße 12, 04103 Leipzig, Germany. Tel: +49- 341-97-21160. e-mail: niels. [email protected] Tutankhamun was a Pharaoh of the 18th Dynasty (New Kingdom) in ancient Egypt. Medical and radiological investigations of his skull revealed details about the jaw and teeth status of the mummy. Regarding the jaw relation, a maxillary prognathism, a mandibular retrognathism and micrognathism have been discussed previously. A cephalometric analysis was performed using a lateral skull X-ray and a review of the literature regarding Key Words: Tutankhamun’s King Tutankhamun´s mummy. The results imply diagnosis of mandibular retrognathism. dentition, cephalometric analysis, Furthermore, third molar retention and an incomplete, single cleft palate are present. mandibular retrognathism Introduction also been discussed (11). In 1922, the British Egyptologist Howard Carter found the undisturbed mummy of King Tutankhamun. The Case Report spectacular discovery enabled scientists of the following In the evaluation of Tutankhamun’s dentition and jaw decades to analyze the Pharaoh's remains. The mummy alignment, contemporary face reconstructions and coeval underwent multiple autopsies. Until now, little was artistic images can be of further use. However, the ancient published about the jaw and dentition of the King. -
Fluorescent Advanced Glycation End Products in the Detection of Factual Stages of Cartilage Degeneration
Physiol. Res. 56: 235-242, 2007 Fluorescent Advanced Glycation End Products in the Detection of Factual Stages of Cartilage Degeneration M. HANDL1,3, E. FILOVÁ2,3, M. KUBALA4, Z. LÁNSKÝ5, L. KOLÁČNÁ2,3, J. VORLÍČEK6, T. TRČ1, M. PACH7, E. AMLER2,3 1Orthopedic Clinic, Second Faculty of Medicine, Charles University in Prague, Czech Republic, 2Institute of Biophysics, Second Faculty of Medicine, Charles University in Prague, Czech Republic, 3Department of Tissue Engineering, Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Prague, Czech Republic, 4Department of Biophysics, Faculty of Science, Palacky University in Olomouc, Czech Republic, 5Department of Protein Structure, Institute of Physiology, Academy of Sciences of the Czech Republic, Czech Republic, 6Department of Biomathematics, Institute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic and 7Department of Orthopaedics, Faculty of Medicine and Dentistry, Palacky University in Olomouc, Czech Republic Received January 2, 2006 Accepted February 27, 2006 On-line available March 23, 2006 Summary Patients treated for knee disorders were included in this study. They were examined clinically (Lequesne and Tegner scores) and by standard X-ray investigation. Patients underwent a surgical procedure, either arthroscopy or knee replacement. At the initial phase of surgery, a sample of cartilage was taken for laboratory examination. Progression of the disorder and the clinical examination was correlated with the actual state of the cartilage using a novel fluorescence approach. The intrinsic fluorescence of cartilages was shown as a suitable and sensitive method for detection of the actual state of cartilages because the correlation with X-ray examination and clinical status was found. -
Article Pansomatostatin Agonist Pasireotide Long-Acting Release
CJASN ePress. Published on August 25, 2020 as doi: 10.2215/CJN.13661119 Article Pansomatostatin Agonist Pasireotide Long-Acting Release for Patients with Autosomal Dominant Polycystic Kidney or Liver Disease with Severe Liver Involvement A Randomized Clinical Trial 1Division of Nephrology and 1 1 2 1 1 1 Marie C. Hogan , Julie A. Chamberlin, Lisa E. Vaughan, Angela L. Waits, Carly Banks, Kathleen Leistikow, Hypertension, Mayo Troy Oftsie,1 Chuck Madsen,1 Marie Edwards,1,3 James Glockner,4 Walter K. Kremers,2 Peter C. Harris,1 Clinic College of Nicholas F. LaRusso,5 Vicente E. Torres ,1 and Tatyana V. Masyuk5 Medicine, Rochester, Minnesota 2Division of Abstract Biomedical Statistics Background and objectives We assessed safety and efficacy of another somatostatin receptor analog, pasireotide and Informatics, Mayo long-acting release, in severe polycystic liver disease and autosomal dominant polycystic kidney disease. Clinic College of Pasireotide long-acting release, with its broader binding profile and higher affinity to known somatostatin Medicine, Rochester, fi Minnesota receptors, has potential for greater ef cacy. 3Biomedical Imaging Research Core Facility, Design, setting, participants, & measurements Individuals with severe polycystic liver disease were assigned in a PKD Translational 2:1 ratio in a 1-year, double-blind, randomized trial to receive pasireotide long-acting release or placebo. Primary Research Center, Mayo Clinic College of outcome was change in total liver volume; secondary outcomes were change in total kidney volume, eGFR, and Medicine, Rochester, quality of life. Minnesota 4Department of Results Of 48 subjects randomized, 41 completed total liver volume measurements (n529 pasireotide long-acting Radiology, Mayo release and n512 placebo). -
Frequency and Criticality of Diagnoses in Family Medicine Practices: from the National Ambulatory Medical Care Survey (NAMCS)
J Am Board Fam Med: first published as 10.3122/jabfm.2018.01.170209 on 12 January 2018. Downloaded from ORIGINAL RESEARCH Frequency and Criticality of Diagnoses in Family Medicine Practices: From the National Ambulatory Medical Care Survey (NAMCS) Michael R. Peabody, PhD, Thomas R. O’Neill, PhD, Keith L. Stelter, MD, MMM, and James C. Puffer, MD Background: Family medicine is a specialty of breadth, providing comprehensive health care for the individual and the family that integrates the broad scope of clinical, social, and behavioral sciences. As such, the scope of practice (SOP) for family medicine is extensive; however, over time many family phy- sicians narrow their SOP. We sought to provide a nationally representative description of the most com- mon and the most critical diagnoses that family physicians see in their practice. Methods: Data were extracted from the 2012 National Ambulatory Medical Care Survey (NAMCS) to select all ICD-9 codes reported by family physicians. A panel of family physicians then reviewed 1893 ICD-9 codes to place each code into an American Board of Family Medicine Family Medicine Certifica- tion Examination test plan specifications (TPS) category and provide a rating for an Index of Harm (IoH). Results: An analysis of all 1893 ICD-9 codes seen by family physicians in the 2012 NAMCS found that 198 ICD-9 codes could not be assigned a TPS category, leaving 1695 ICD-9 codes in the dataset. Top 10 lists of ICD-9 codes by TPS category were created for both frequency and IoH. Conclusions: This study provides a nationally representative description of the most common diag- copyright. -
Reportable BD Tables Apr2019.Pdf
April 2019 Georgia Department of Public Health | Division of Health Protection | Maternal and Child Health Epidemiology Unit Reportable Birth Defects with ICD-10-CM Codes Reportable Birth Defects in Georgia with ICD-10-CM Diagnosis Codes Table D.1 Brain Malformations and Neural Tube Defects ICD-10-CM Diagnosis Codes Birth Defect ICD-10-CM 1. Brain Malformations and Neural Tube Defects Q00-Q05, Q07 Anencephaly Q00.0 Craniorachischisis Q00.1 Iniencephaly Q00.2 Frontal encephalocele Q01.0 Nasofrontal encephalocele Q01.1 Occipital encephalocele Q01.2 Encephalocele of other sites Q01.8 Encephalocele, unspecified Q01.9 Microcephaly Q02 Malformations of aqueduct of Sylvius Q03.0 Atresia of foramina of Magendie and Luschka (including Dandy-Walker) Q03.1 Other congenital hydrocephalus (including obstructive hydrocephaly) Q03.8 Congenital hydrocephalus, unspecified Q03.9 Congenital malformations of corpus callosum Q04.0 Arhinencephaly Q04.1 Holoprosencephaly Q04.2 Other reduction deformities of brain Q04.3 Septo-optic dysplasia of brain Q04.4 Congenital cerebral cyst (porencephaly, schizencephaly) Q04.6 Other specified congenital malformations of brain (including ventriculomegaly) Q04.8 Congenital malformation of brain, unspecified Q04.9 Cervical spina bifida with hydrocephalus Q05.0 Thoracic spina bifida with hydrocephalus Q05.1 Lumbar spina bifida with hydrocephalus Q05.2 Sacral spina bifida with hydrocephalus Q05.3 Unspecified spina bifida with hydrocephalus Q05.4 Cervical spina bifida without hydrocephalus Q05.5 Thoracic spina bifida without -
BSOG-FOGSI Quiz Preliminary Round Conducted on 24Th April at API
BSOG-FOGSI quiz preliminary round conducted on 24th April at API Bhavana South Zone Yuva Fogsi 2016 Quiz – BSOG round Topic- Gynecological Oncology 24th April, 2016 (60 marks) Name: Institution: Dear participants, Welcome to the FOGSI Quiz 2016 Thirty questions are to be answered in 30 minutes. Circle the right answer. Scratching and overwriting will get a negative marking even if the final answer is right. Each correct answer gets 2 marks and a wrong one gets a negative marking of minus 1.The top 2 scorers will represent BSOG in South Zone Yuva FOGSI 2016 in Madurai on 22nd May 2016. The decision of the Quiz Master is final. Happy Quizzing!!! 1. With regards to the staging of endometrial cancer, pick the wrong answer a. Stage 1a Endometrial Adenocarcinoma is confined to the uterus and involves less than half of the myometrium b. Stage 4a Endometrial Adenocarcinoma invades bladder mucosa c. Stage 4b Endometrial Adenocarcinoma involves inguinal lymph nodes d. Stage 3c2 Endometrial Adenocarcinoma involves more than half of myometrium and pelvic lymph nodes Ans: Stage 3c1 is involvement of pelvic nodes, Stage 3c2 is involvement of paraaortic nodes 2. The average time between HPV infection and pre-cancer is a. 2-5 years b. 15-20 years c. 7-10 years d. 20-25 years Novak 3. What factor does not contribute to persistence and progression of HPV infection? a. Smoking b. Contraceptive use c. STDs d. Drinking alcohol Novak 4. On Colposcopy, Adenocarcinoma has the following features a. Mosaic pattern b. Punctate lesions c. Abnormal vasculature d. -
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years.