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Thursday 23 June 2016 – Morning A2 GCE HUMAN BIOLOGY F225/01 Genetics, Control and Ageing *5884237032* Candidates Answer on the Question Paper
Oxford Cambridge and RSA Thursday 23 June 2016 – Morning A2 GCE HUMAN BIOLOGY F225/01 Genetics, Control and Ageing *5884237032* Candidates answer on the Question Paper. OCR supplied materials: Duration: 2 hours None Other materials required: • Electronic calculator • Ruler (cm/mm) *F22501* INSTRUCTIONS TO CANDIDATES • Write your name, centre number and candidate number in the boxes above. Please write clearly and in capital letters. • Use black ink. HB pencil may be used for graphs and diagrams only. • Answer all the questions. • Read each question carefully. Make sure you know what you have to do before starting your answer. • Write your answer to each question in the space provided. If additional space is required, you should use the lined page(s) at the end of this booklet. The question number(s) must be clearly shown. • Do not write in the bar codes. INFORMATION FOR CANDIDATES • The number of marks is given in brackets [ ] at the end of each question or part question. • The total number of marks for this paper is 100. • Where you see this icon you will be awarded marks for the quality of written communication in your answer. • You may use an electronic calculator. • You are advised to show all the steps in any calculations. • This document consists of 24 pages. Any blank pages are indicated. © OCR 2016 [K/500/8502] OCR is an exempt Charity DC (NH/SW) 119808/4 Turn over 2 Answer all the questions. 1 Excretion is the removal of metabolic waste products from the body. The kidney is one of the organs involved in excretion. -
Prenatal Growth Restriction, Retinal Dystrophy, Diabetes Insipidus and White Matter Disease: Expanding the Spectrum of PRPS1-Related Disorders
European Journal of Human Genetics (2015) 23, 310–316 & 2015 Macmillan Publishers Limited All rights reserved 1018-4813/15 www.nature.com/ejhg ARTICLE Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Almundher Al-Maawali1,2, Lucie Dupuis1, Susan Blaser3, Elise Heon4, Mark Tarnopolsky5, Fathiya Al-Murshedi2, Christian R Marshall6,7, Tara Paton6,7, Stephen W Scherer6,7 for the FORGE Canada Consortium9, Jeroen Roelofsen8, Andre´ BP van Kuilenburg8 and Roberto Mendoza-Londono*,1 PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot–Marie–Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing techniques, we identified a novel missense mutation in PRPS1. The clinical phenotype in our patients is characterized by high prenatal maternal a-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing of the two affected male siblings identified a shared putative pathogenic mutation c.586C4T p.(Arg196Trp) in the PRPS1 gene that was maternally inherited. Follow-up testing showed normal levels of hypoxanthine in urine samples and uric acid levels in blood serum. The PRS activity was significantly reduced in erythrocytes of the two patients. Nucleotide analysis in erythrocytes revealed abnormally low guanosine triphosphate and guanosine diphosphate. -
Endocrinology Test List Endocrinology Test List
For Endocrinologists Endocrinology Test List Endocrinology Test List Extensive Capabilities Managing patients with endocrine disorders is complex. Having access to the right test for the right patient is key. With a legacy of expertise in endocrine laboratory diagnostics, Quest Diagnostics offers an extensive menu of laboratory tests across the spectrum of endocrine disorders. This test list highlights the extensive menu of laboratory diagnostic tests we offer, including highly specialized tests and those performed using highly specific and sensitive mass spectrometry detection. It is conveniently organized by glandular function or common endocrine disorder, making it easy for you to identify the tests you need to care for the patients you treat. Comprehensive Care Quest Diagnostics Nichols Institute has been pioneering state-of-the-art endocrine testing for over four decades. Our commitment to innovative diagnostics and our dedication to quality and service means we deliver solutions that enable you to make informed clinical decisions for comprehensive patient management. We strive to remain at the forefront of innovation in endocrine testing so you can deliver the highest level of patient care. Abbreviations and Footnotes NDM, neonatal diabetes mellitus; MODY, maturity-onset diabetes of the young; CH, congenital hyperinsulinism; MSUD, maple syrup urine disease; IHH, idiopathic hypogonadotropic hypogonadism; BBS, Bardet-Biedl syndrome; OI, osteogenesis imperfecta; PKD, polycystic kidney disease; OPPG, osteoporosis-pseudoglioma syndrome; CPHD, combined pituitary hormone deficiency; GHD, growth hormone deficiency. The tests highlighted in green are performed using highly specific and sensitive mass spectrometry detection. Panels that include a test(s) performed using mass spectrometry are highlighted in yellow. For tests highlighted in blue, refer to the Athena Diagnostics website (athenadiagnostics.com/content/test-catalog) for test information. -
Physicians Directory Highlighting Our Homegrown Experts and Internationally-Trained and Acclaimed Specialists
Physician's Directory National Kidney and Transplant Institute East Avenue, Quezon City, Philippines, 1104 FOREWORD The National Kidney and Transplant Institute, from its humble beginnings as a foundation dedicated to treating kidney, genitourinary tract diseases and organ transplantation, has evolved into what is presently considered the most formidable team in their specialties in the Philippine healthcare arena. Now in its 30th year, the Institute is very proud to present the new Physicians Directory highlighting our homegrown experts and internationally-trained and acclaimed specialists. One essential factor for an organization to achieve successful healthcare implementation is through harnessing its human resources. The practice of medicine in the Institute has blossomed over time through reinforcing the expertise, capabilities and support facilities of the doctors. In light of the increasing demands of patient care, the NKTI management established a Medical Arts building for doctors in order to provide a “niche” where they can directly interact with patients, as well as to support professional growth through private practice. Over the years, the number of doctors multiplied as patient referrals increased. As a renowned training institute, NKTI has been able to realize its mandates through the sharing of expertise and transfer of knowledge by implementing effective, relevant and up-to-date training protocols that supplement service continuity – ensuring that the NKTI way of patient care and management is inherited by the present and -
Diabetes Insipidus
Your feelings about Infertility conditions series: › Diabetes insipidus The Pituitary Foundation Information Booklets Working to support pituitary patients, their carers & families The Pituitary Foundation is a charity working About this booklet in the United Kingdom and Republic of The aim of this booklet is to provide information Ireland supporting patients with pituitary about diabetes insipidus. conditions, their carers, family and friends. You may find that not all of the information Our aims are to offer support through the applies to you in particular, but we hope it helps pituitary journey, provide information to the you to understand your condition better and community, and act as the patient voice to raise offers you a basis for discussion with your GP awareness and improve services. and endocrinologist. What is diabetes insipidus and why do we get it? 3 The two forms of diabetes insipidus 5 How is DI diagnosed and treated? 7 How is DI diagnosed? 7 What tests are carried out and how will they feel? 7 How is DI treated? 7 Aftercare 9 How will diabetes insipidus affect my life? 10 Prescriptions 10 Driving 10 Employment problems 10 Insurance & pensions 10 Personal medical identification 11 Toilet facilities card 11 National key scheme 11 Common questions 12-13 What DI means to me - a patient's story 14 Membership & donation information 15 2 Diabetes insipidus What is diabetes insipidus (DI) and why do we get it? Diabetes insipidus (DI) is caused by a problem with either the production, or action, of the hormone vasopressin (AVP). If you have DI your kidneys are unable to retain water. -
Refund Amount Less Than P1,000
REFUND AMOUNT LESS THAN P1,000 NO. HOSPITAL NAME MEMBER NAME PATIENT NAME 1 ALABANG MEDICAL CLINIC ACOBA, MA. CRISTINA TINGA ACOBA, GILBERT LAUREAGA 2 ALABANG MEDICAL CLINIC AGONCILLO, ANTONIO SAAVEDRA AGONCILLO, ANTONIO SAAVEDRA 3 ALABANG MEDICAL CLINIC ALCALA, LUCIA OLBANO ALCALA, AISSA JOY O 4 ALABANG MEDICAL CLINIC ALFAJARO, ALONA COLEGIO ALFAJARO, ENRIQUE LAROZA 5 ALABANG MEDICAL CLINIC ALVAREZ, PELMA ALCAYDE ALVAREZ, PELMA ALCAYDE 6 ALABANG MEDICAL CLINIC ANDEN, PAUL RICHARD T ANDEN, GINA CORUGDA 7 ALABANG MEDICAL CLINIC ANTONIO, CECILE GUIRUELA ANTONIO, CECILE GUIRUELA 8 ALABANG MEDICAL CLINIC APALIS, SUSANA DELRIO APALIS, SUSANA DELRIO 9 ALABANG MEDICAL CLINIC APUYA, OLIVA DELA PENA APUYA, OLIVA DELA PENA 10 ALABANG MEDICAL CLINIC AQUINO, ZENAIDA ONQUIT AQUINO, HERNANDO SARCEDA 11 ALABANG MEDICAL CLINIC ASTILLERO, ROMEO R ASTILLERO, VIOLETA ALAGOS 12 ALABANG MEDICAL CLINIC BAUTISTA, JACQUELINE NAVARRO BAUTISTA, JACQUELINE NAVARRO 13 ALABANG MEDICAL CLINIC BAUTISTA, VENUS MONSALVE BAUTISTA, VENUS MONSALVE 14 ALABANG MEDICAL CLINIC BAYLON, CARMENCITA LEONOR BAYLON, RILY JOY LEONOR 15 ALABANG MEDICAL CLINIC BERNADOS, JULIUS YACAP BERNADOS, HANNAH STEFFANEY A 16 ALABANG MEDICAL CLINIC BONGON, JEFFREY ADAGIO BONGON, JEFFREY ADAIO 17 ALABANG MEDICAL CLINIC BULASA, RICARDO ZAPANTA BULASA, RICARDO ZAPANTA 18 ALABANG MEDICAL CLINIC BUNYI, MILLIE SANDOVAL BUNYI, MILLIE SANDOVAL 19 ALABANG MEDICAL CLINIC CADALIN, CARLITO BASIJAN CADALIN, CARLITO BASIJAN 20 ALABANG MEDICAL CLINIC CARAPATAN, MYLENE M CARAPATAN, MJ MARTINEZ 21 ALABANG MEDICAL -
Distal Renal Tubular Acidosis and Diabetes Insipidus Leading to the Diagnosis of Sjögren's Syndrome
The Medicine Forum Volume 17 Article 15 2016 Distal Renal Tubular Acidosis and Diabetes Insipidus Leading to the Diagnosis Of Sjögren's Syndrome Loheetha Ragupathi, MD Thomas Jefferson University, [email protected] Elijah Grillo, MD Thomas Jefferson University, [email protected] Jonathan Yadlosky, MD Thomas Jefferson University, [email protected] Ravi Sunderkrishnan, MD Thomas Jefferson University, [email protected] Follow this and additional works at: https://jdc.jefferson.edu/tmf Part of the Internal Medicine Commons, and the Nephrology Commons Let us know how access to this document benefits ouy Recommended Citation Ragupathi, MD, Loheetha; Grillo, MD, Elijah; Yadlosky, MD, Jonathan; and Sunderkrishnan, MD, Ravi (2016) "Distal Renal Tubular Acidosis and Diabetes Insipidus Leading to the Diagnosis Of Sjögren's Syndrome," The Medicine Forum: Vol. 17 , Article 15. DOI: https://doi.org/10.29046/TMF.017.1.016 Available at: https://jdc.jefferson.edu/tmf/vol17/iss1/15 This Article is brought to you for free and open access by the Jefferson Digital Commons. The Jefferson Digital Commons is a service of Thomas Jefferson University's Center for Teaching and Learning (CTL). The Commons is a showcase for Jefferson books and journals, peer-reviewed scholarly publications, unique historical collections from the University archives, and teaching tools. The Jefferson Digital Commons allows researchers and interested readers anywhere in the world to learn about and keep up to date with Jefferson scholarship. This article has been accepted for inclusion in The Medicine Forum by an authorized administrator of the Jefferson Digital Commons. For more information, please contact: [email protected]. -
Hospital Capacity for COVID-19 Cases
Intellicare Hospital Capacity for COVID-19 Cases National Capital Region COVID CASES NON-COVID CASES NAME OF FACILITY PROVINCE/CITY IN PATIENT CAPACITY IN PATIENT CAPACITY ALLIED CARE EXPERTS (ACE) PATEROS PATEROS WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS CAPITOL MEDICAL CENTER QUEZON CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS CHINESE GENERAL HOSPITAL MANILA WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS DILIMAN DOCTORS HOSPITAL QUEZON CITY WITH AVAILABLE ROOMS FULL CAPACITY DR. FE DEL MUNDO HOSPITAL QUEZON CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS DR. VICTOR POTENCIANO MEDICAL MANDALUYONG WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS CENTER CITY FATIMA UNIVERSITY MEDICAL CENTER VALENZUELA WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS / NEED TO CALL SINCE THE AVAILABILITY OF ROOMS MAY CHANGE DAILY HOLYLIFE HOSPITAL PASIG CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS MANILA DOCTORS HOSPITAL MANILA WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS FOR MILD TO MODERATE; SEVERE TO CRITICAL COVID FULL MARIKINA VALLEY MEDICAL CENTER MARIKINA CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS AS OF THE MOMENT- CALL HOSPITAL FIRST MCU HOSPITAL CALOOCAN CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS FOR MILD TO MODERATE; SEVERE TO CRITICAL COVID FULL MEDICAL CENTER MANILA MANILA WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS METROPOLITAN MEDICAL CENTER MANILA WITH AVAILABLE ROOMS WITH AVAILABLE ROOM FOR MILD AND MODERATE COVID, FACILITY HAS NO AVAILABLE ICU ROOM INSIDE THE FACILITY. PACIFIC GLOBAL MEDICAL CENTER QUEZON CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS PROVIDENCE HOSPITAL QUEZON CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS ST. LUKE'S MEDICAL CENTER QUEZON QUEZON CITY WITH AVAILABLE ROOMS NO AVAILABLE ROOMS CITY WORLD CITI MEDICAL CENTER QUEZON CITY WITH AVAILABLE ROOMS WITH AVAILABLE ROOMS Intellicare Hospital Capacity for COVID-19 Cases F.E.U HOSPITAL QUEZON CITY ACCEPTING MILD TO WITH AVAILABLE ROOMS MODERATE; SEVERE TO CRITICAL FULL CAPACITY MEDICAL CENTER PARANAQUE PARAÑAQUE CITY MILD CASES ONLY. -
Congenital Nephrogenic Diabetes Insipidus Presenting After Acute Pyelonephritis
IJCRI 201 2;3(11 ):25–27. Castillo et al. 25 www.ijcasereportsandimages.com CASE REPORT OPEN ACCESS Congenital nephrogenic diabetes insipidus presenting after acute pyelonephritis Christian Castillo, Poonam Bherwani, Evelyn Erickson, Gerard Prosper ABSTRACT of neurological and developmental complications associated with NDI. Introduction: Diabetes insipidus (DI) is characterized by the inability to concentrate Keywords: Congenital Diabetes Insipidus, urine. While central DI is caused by failure to Nephrogenic Diabetes Insipidus, Acute release enough functional vasopressin, Pyelonephritis nephrogenic DI (NDI) is due to the insensitivity of the distal nephron to the effect of antidiuretic ********* hormone (ADH). Case Report: A 5dayold newborn male was admitted for isolated fever Castillo C, Bherwani P, Erickson E, Prosper G. and a questionable early right upper lobe Congenital nephrogenic diabetes insipidus presenting infiltrate. He gradually developed after acute pyelonephritis. International Journal of Case hypernatremia and increased osmolality. As Reports and Images 2012;3(11):25–27. part of his work up for fever, he had a urine culture of 30K colonies of Enterococcus faecalis. ********* His vasopressin test was negative. Conclusion: The polyuria and polydipsia associated with doi:10.5348/ijcri201211215CR8 genetic NDI usually presents within the first several weeks of life but may only become apparent after weaning or with longer periods of nighttime fasting. The acute pyelonephritis of this newborn may have been the initial trigger INTRODUCTION for the congenital NDI. Accurate diagnosis of this patient helped to also diagnose his maternal Diabetes insipidus is characterized by the inability to uncle and provide clues to the current condition concentrate urine. -
X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases
BRIEF REVIEW www.jasn.org X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases Barbara R. Migeon McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore Maryland ABSTRACT A good deal of sex differences in kidney disease is attributable to sex differences expressed only in the testes, they have to do in the function of genes on the X chromosome. Males are uniquely vulnerable to with testicular function and fertility. With mutations in their single copy of X-linked genes, whereas females are often mosaic, one X chromosome, males have only a sin- having a mixture of cells expressing different sets of X-linked genes. This cellular gle copy of their X-linked genes. mosaicism created by X inactivation in females is most often advantageous, pro- On the other hand, even though fe- tecting carriers of X-linked mutations from the severe clinical manifestations seen males have two copies of these genes, in males. Even subtle differences in expression of many of the 1100 X-linked genes both are not expressed in the same cell. may contribute to sex differences in the clinical expression of renal diseases. Only one X is programmed to work in each diploid somatic cell. All of the other J Am Soc Nephrol 19: 2052–2059, 2008. doi: 10.1681/ASN.2008020198 X chromosomes in the cell become inac- tive during fetal development. Briefly, compensation for X dosage in our spe- Although being female conveys a protec- with normal kidney function. This re- cies is accomplished by a process that en- tive effect on the progression of chronic view addresses the genetic and epigenetic sures only a single X is active in both renal disease, the basis for this sex differ- programs that contribute to the sex dif- sexes. -
Medical Coordinator and Accredited Physicians
Medical Coordinator & Accredited Physicians of Non-Umbrella Hospitals As of March 17, 2020 ADVENTIST HOSPITAL ‐ CALBAYOG INC. ACCREDITED PHYSICIANS NAME OF DOCTOR (LAST NAME, FIRST NAME) SPECIALIZATION ANG, JONATHAN FAMILY MEDICINE/OCCUPATIONAL MEDICINE CAHILIG, ARNE ROYCE INTERNAL MEDICINE CAHILIG, JOSEFA PEDIATRICIAN FERRER-LLAGUNO, ROSE SHIRLEY INTERNAL MEDICINE ANGELES UNIVERSITY FOUNDATION MED. CENTER ACCREDITED PHYSICIANS NAME OF DOCTOR (LAST NAME, FIRST NAME) SPECIALIZATION ARCEO, ED ANESTHESIOLOGY AYSON, NELSON M. GENERAL SURGERY CALMA, JUDELL R. ANESTHESIOLOGY CALSI, MERIN T. GENERAL SURGERY CANAG-CAGALABAN, ANA MAE C. OB-GYNE CANONO, RAYZEN V. IM CARDIOLOGY DAVID, HAROLD J. PEDIATRICS DAVID, RESTITUTO, R. GENERAL SURGERY DE GUZMAN, LEAH P. INTERNAL MEDICINE DIAZ, ROY M. GENERAL SURGERY DIMABUYU, MARIA JEAN AVY PEDIATRICS DUNGCA, LEONARDO M. GENERAL SURGERY ENRIQUEZ, GRACE ANESTHESIOLOGY ESPIRITU, NERESITO T. GENERAL SURGERY EULALIA, REMEDIOS G. PEDIATRICS GARCIA, ALEJANDRO L. ANESTHESIOLOGY GO, MICHELLE D. INTERNAL MEDICINE GOINGCO, RENEAH N. INTERNAL MEDICINE GOMEZ, FEDERICO, C. INTERNAL MEDICINE GOMEZ, NELSON D. PEDIATRICS GUECO, GEMALYN P. INTERNAL MEDICINE GUIAO, RONALD D. INTERNAL MEDICINE HENSON, GODOFREDO ANESTHESIOLOGY LAGUNILLA, KRISTINA THERESE G. IM GASTROENTEROLOGY LAGUNILLA, MA. LOURDES G. PEDIATRICS LAXAMANA, JOMAN Q. ENT-HNS MALLARI, OLIVER T. GENERAL SURGERY MALONZO, ERLINDA ANESTHESIOLOGY MANALASTAS, RENE EDGARDO C. ORTHOPAEDIC SURGERY MANALO, JOHN JOSEPH L. IM INTERVENTIONAL CARDIOLOGY MUŇOZ, SUZETTE K. OB-GYNE NG, ANTHEA L. INTERNAL MEDICINE ORPILLA, MARILYN Y. PEDIATRICS PANTIG, PERINO P. ANESTHESIOLOGY PASUMBAL, EDWIN IM INFECTIOUS DSE. PELAYO, MICHELLE M. PEDIATRICS PINPIN, CHRISTINA SHERYLL G. OB-GYNE SICO, LUISITO L. FAMILY MEDICINE SO, ANTHONY REHAB MEDICINE SOTTO, RHETT JOSEPH S. INTERNAL MEDICINE SY. CHRISTIAN NEIL C. ANESTHESIOLOGY TIMBOL, AEDEN BERNICE G. -
Tests…But Maybe You Transports Don’T 2
11/12/15 Some things you should When lab tests are useful know about laboratory 1. Managing patients during critical care tests…But maybe you transports don’t 2. While transporting patient to medical facilities for evaluation of laboratory Steve Faynor, CCEMT-P abnormalities HCA Chippenham Medical Center Richmond Ambulance Authority Objectives 1. Review some basic laboratory tests. Treat the patient, not the 2. Appreciate how patterns of laboratory test results can offer insight into etiology. laboratory values. 3. Learn how laboratory test calculations can add additional clinical information. 4. Review some limitations of laboratory tests. ELECTROLYTES & A case of “bad labs” RENAL FUNCTION TESTS 1 11/12/15 Hypernatremia & Renal Failure Hypernatremia • 89 year old white female • Hyperaldosteronism • Coming from nursing home due to • Cushing’s disease or syndrome abnormal labs • Diabetes insipidus (deficiency of ADH) • Sodium 172 mmol/L • Dehydration • Potassium 4.2 mmol/L • Chloride 137 mmol/L • Carbon dioxide 21 mmol/L • What are some causes of hypernatremia? • BP 122/66, SBP 99 later • BUN 212 mg N/dL • HR 64/min • Creatinine 6.10 mg/dL • RR 21/min • What do these values indicate? • SpCO2 98% on 4 L oxygen per min • Does this change your therapy? • Tongue dry, skin turgor poor • What is the cause of the hypernatremia in this patient? Treatment? Acute Renal Failure Use of the BUN/creatinine ratio • Intrinsic renal disease • In intrinsic causes of acute renal failure, the – Acute tubular necrosis: ischemia, toxins BUN/creatinine ratio is typically 10-15. – Acute glomerulonephritis • In pre-renal causes of acute renal failure, – CKD with missed dialysis the BUN/creatinine ratio is typically >20.