Pediatric Surgery
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Genetic Syndromes and Genes Involved
ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. -
Pathophysiology, Diagnosis, and Management of Pediatric Ascites
INVITED REVIEW Pathophysiology, Diagnosis, and Management of Pediatric Ascites ÃMatthew J. Giefer, ÃKaren F. Murray, and yRichard B. Colletti ABSTRACT pressure of mesenteric capillaries is normally about 20 mmHg. The pediatric population has a number of unique considerations related to Intestinal lymph drains from regional lymphatics and ultimately the diagnosis and treatment of ascites. This review summarizes the physio- combines with hepatic lymph in the thoracic duct. Unlike the logic mechanisms for cirrhotic and noncirrhotic ascites and provides a sinusoidal endothelium, the mesenteric capillary membrane is comprehensive list of reported etiologies stratified by the patient’s age. relatively impermeable to albumin; the concentration of protein Characteristic findings on physical examination, diagnostic imaging, and in mesenteric lymph is only about one-fifth that of plasma, so there abdominal paracentesis are also reviewed, with particular attention to those is a significant osmotic gradient that promotes the return of inter- aspects that are unique to children. Medical and surgical treatments of stitial fluid into the capillary. In the normal adult, the flow of lymph ascites are discussed. Both prompt diagnosis and appropriate management of in the thoracic duct is about 800 to 1000 mL/day (3,4). ascites are required to avoid associated morbidity and mortality. Ascites from portal hypertension occurs when hydrostatic Key Words: diagnosis, etiology, management, pathophysiology, pediatric and osmotic pressures within hepatic and mesenteric capillaries ascites produce a net transfer of fluid from blood vessels to lymphatic vessels at a rate that exceeds the drainage capacity of the lym- (JPGN 2011;52: 503–513) phatics. It is not known whether ascitic fluid is formed predomi- nantly in the liver or in the mesentery. -
Imperforate Anus and Cloacal Malformations Marc A
C H A P T E R 3 5 Imperforate Anus and Cloacal Malformations Marc A. Levitt • Alberto Peña ‘Imperforate anus’ has been a well-known condition since component but were left with a persistent urogenital antiquity.1–3 For many centuries, physicians, as well as sinus.21,23 Additionally, most rectovestibular fistulas were individuals who practiced medicine, have tried to help erroneously called ‘rectovaginal fistula’.21 A rectoblad- these children by creating an orifice in the perineum. derneck fistula in males is the only true supralevator Many patients survived, most likely because they suffered malformation and occurs in about 10%.18 As it is the only from a type of defect that is now recognized as ‘low.’ malformation in males in which the rectum is unreach- Those with a ‘high’ defect did not survive. In 1835, able through a posterior sagittal incision, it requires an Amussat was the first to suture the rectal wall to the skin abdominal approach (via laparoscopy or a laparotomy) in edges which was the first actual anoplasty.2 Stephens addition to the perineal approach. made a significant contribution by performing the first Anorectal malformations represent a wide spectrum of anatomic studies in human specimens. In 1953, he pro- defects. The terms ‘low,’ ‘intermediate,’ and ‘high’ are arbi- posed an initial sacral approach followed by an abdomi- trary and not useful in current therapeutic or prognostic noperineal operation, if needed.4 The purpose of the terminology. A therapeutic and prognostically oriented sacral stage of this procedure was to preserve the pub- classification is depicted in Box 35-1.24 orectalis sling, considered a key factor in maintaining fecal incontinence. -
Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017
Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017 Participating members of the Birth Defects Definitions Group: Lorenzo Botto (UT) John Carey (UT) Cynthia Cassell (CDC) Tiffany Colarusso (CDC) Janet Cragan (CDC) Marcia Feldkamp (UT) Jamie Frias (CDC) Angela Lin (MA) Cara Mai (CDC) Richard Olney (CDC) Carol Stanton (CO) Csaba Siffel (GA) Table of Contents LIST OF BIRTH DEFECTS ................................................................................................................................................. I DETAILED DESCRIPTIONS OF BIRTH DEFECTS ...................................................................................................... 1 FORMAT FOR BIRTH DEFECT DESCRIPTIONS ................................................................................................................................. 1 CENTRAL NERVOUS SYSTEM ....................................................................................................................................... 2 ANENCEPHALY ........................................................................................................................................................................ 2 ENCEPHALOCELE ..................................................................................................................................................................... 3 HOLOPROSENCEPHALY............................................................................................................................................................. -
The Cyclops and the Mermaid: an Epidemiological Study of Two Types
30 0 Med Genet 1992; 29: 30-35 The cyclops and the mermaid: an epidemiological study of two types of rare J Med Genet: first published as 10.1136/jmg.29.1.30 on 1 January 1992. Downloaded from malformation* Bengt Kallen, Eduardo E Castilla, Paul A L Lancaster, Osvaldo Mutchinick, Lisbeth B Knudsen, Maria Luisa Martinez-Frias, Pierpaolo Mastroiacovo, Elisabeth Robert Abstract complex depends on which forms are in- Infants with cyclopia or sirenomelia are cluded, and also on the frequency with which born at an approximate rate of 1 in necropsy is performed on infants dying in the 100 000 births. Eight malformation moni- neonatal period. However, the two extreme toring systems around the world jointly forms, cyclopia and sirenomelia, are easily Department of studied the epidemiology of these rare recognised and usually clearly defined, but Embryology, University of Lund, malformations: 102 infants with cyclopia, both forms are very rare and it is therefore Biskopsgatan 7, S-223 96 with sirenomelia, and one with both difficult to collect material large enough to 62 Lund, Sweden. conditions were identified among nearly permit detailed epidemiological studies. B Kalln 10-1 million births. Maternal age is some- We have collected such material by using ECLAMC/Genetica/ what increased for cyclopia, indicating data from eight malformation monitoring sys- Fiocruz, Rio de Janeiro, Brazil, and the likely inclusion of some chromoso- tems around the world, all members of the IMBICE, Casilla 403, mally abnormal infants which were not International Clearinghouse for Birth Defects 1900 La Plata, identified. About half of the infants are Monitoring Systems,7 and we report some Argentina. -
Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development
THIEME Case Report 33 Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development Yvon Chitrit, MD1 Edith Vuillard, MD1 Sunavy Khung, MD, PhD2 Nadia Belarbi, MD3 Fabien Guimiot, PhD2 Francoise Muller, MD, PhD4 Alaa El Ghoneimi, MD, PhD5 Jean Francois Oury, MD, PhD1 1 Department of Obstetrics and Gynecology, Robert Debré Hospital- Address for correspondence Dr. Y. Chitrit, MD, Department of AP-HP, Paris, France Obstetrics and Gynecology, Robert Debré Hospital, 48 Bd Sérurier, 2 Department of Developmental Biology, Robert Debré Hospital-AP- 75935 Paris cedex 19, France (e-mail: [email protected]). HP,Paris,France 3 Department of Pediatric Imaging, Robert Debré Hospital-AP-HP, Paris, France 4 Laboratory of Biochemistry and Hormonology, Robert Debré Hospital-AP-HP, Paris, France 5 Department of Pediatric Urology and Surgery, Robert Debré Hospital- AP-HP, Paris, France Am J Perinatol Rep 2014;4:33–36. Abstract Objective Describe a case of cloaca prenatally diagnosed in one of a set of mono- amniotic twins. Study Design Retrospective review of a case. Results Cloaca is one of the most complex and severe degrees of anorectal malforma- Keywords tions in girls. We present a discordant cloaca in monoamniotic twins. Fetal ultrasound ► prenatal diagnosis showed a female fetus with a pelvic midline cystic mass, a phallus-like structure, a probable ► persistent cloaca anorectal atresia with absence of anal dimple and a flat perineum, and renal anomalies. The ► monoamniotic twins diagnosis was confirmed by fetal magnetic resonance imaging postnatally. ► fetal lung Conclusions The rarity of the malformation in a monoamniotic pregnancy, the development difficulties of prenatal diagnosis, the pathogenic assumptions, and the consequences ► discordant of adequate amniotic fluid for fetal lung development are discussed. -
XI. COMPLICATIONS of PREGNANCY, Childbffith and the PUERPERIUM 630 Hydatidiform Mole Trophoblastic Disease NOS Vesicular Mole Ex
XI. COMPLICATIONS OF PREGNANCY, CHILDBffiTH AND THE PUERPERIUM PREGNANCY WITH ABORTIVE OUTCOME (630-639) 630 Hydatidiform mole Trophoblastic disease NOS Vesicular mole Excludes: chorionepithelioma (181) 631 Other abnormal product of conception Blighted ovum Mole: NOS carneous fleshy Excludes: with mention of conditions in 630 (630) 632 Missed abortion Early fetal death with retention of dead fetus Retained products of conception, not following spontaneous or induced abortion or delivery Excludes: failed induced abortion (638) missed delivery (656.4) with abnormal product of conception (630, 631) 633 Ectopic pregnancy Includes: ruptured ectopic pregnancy 633.0 Abdominal pregnancy 633.1 Tubalpregnancy Fallopian pregnancy Rupture of (fallopian) tube due to pregnancy Tubal abortion 633.2 Ovarian pregnancy 633.8 Other ectopic pregnancy Pregnancy: Pregnancy: cervical intraligamentous combined mesometric cornual mural - 355- 356 TABULAR LIST 633.9 Unspecified The following fourth-digit subdivisions are for use with categories 634-638: .0 Complicated by genital tract and pelvic infection [any condition listed in 639.0] .1 Complicated by delayed or excessive haemorrhage [any condition listed in 639.1] .2 Complicated by damage to pelvic organs and tissues [any condi- tion listed in 639.2] .3 Complicated by renal failure [any condition listed in 639.3] .4 Complicated by metabolic disorder [any condition listed in 639.4] .5 Complicated by shock [any condition listed in 639.5] .6 Complicated by embolism [any condition listed in 639.6] .7 With other -
Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo- Esophageal Fistula, and Renal Dysplasia)
Tohoku J. Exp. Med., 2007, 213, 291-295Cloacal-VATER Spectrum 291 Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo- Esophageal Fistula, and Renal Dysplasia) 1 1 1 1 MIKI MORI, KEIICHI MATSUBARA, EMIKO ABE, YUKO MATSUBARA, 1 1 1 1 TOMIHIRO KATAYAMA, TORU FUJIOKA, YASUKI KUSANAGI and MASAHARU ITO 1Department of Obstetrics and Gynecology, Ehime University Graduate School of Medicine, Toon, Japan MORI, M., MATSUBARA, K., ABE, E., MATSUBARA, Y., KATAYAMA, T., FUJIOKA, T., KUSANAGI, Y. and ITO, M. Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia). Tohoku J. Exp. Med., 2007, 213 (4), 291-295 ── The cloaca is a single canal from which the urinary, genital, and intestinal tracts arise around gestational weeks 5-6. Persistent cloaca can result from cystic mass formation within the pelvis, which is commonly associ- ation with multiple developmental defects. VATER association, which is a spectrum of anomalies, manifested by vertebral defects, anal atresia, tracheo-esophageal fi stula with esophageal atresia, and renal dysplasia, arises from abnormalities in mesodermal differen- tiation. Recently, both conditions have been proposed to represent a continuous spectrum of anomalies, but the pathophysiology concerning the continuity of the development and the clinical condition are still unclear. Since renal failure becomes a serious problem after birth, timely infant delivery is essential to avoid loss of renal function. We report a patient, in whom the overlap between these two conditions was identifi ed, and renal function was lost from one kidney. A polycystic mass was found in the fetal abdomen at 26 weeks of gestation. -
Magnetic Resonance Imaging Demonstration of Sirenomelia in One
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Available online at www.sciencedirect.com Taiwanese Journal of Obstetrics & Gynecology 50 (2011) 561e563 www.tjog-online.com Research Letter Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer Chih-Ping Chen a,b,c,d,e,f,*, Chin-Yuan Hsu a, Maw-Shuan Lee g, Yu-Peng Liu h,i, Fuu-Jen Tsai d,j, Pei-Chen Wu a, Schu-Rern Chern b, Wayseen Wang b,k a Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan b Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan c Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan h Department of Radiology, Mackay Memorial Hospital Hsinchu Branch, Hsinchu, Taiwan i Mackay Medicine, Nursing and Management College, Taipei, Taiwan j Departments of Medical Genetics, and Medical Research, China Medical University Hospital, Taichung, Taiwan k Department of Bioengineering, Tatung University, Taipei, Taiwan Accepted 25 October 2010 A 32-year-old, primigravid woman presented with a twin foot, an imperforate anus, absence of external genitalia and pregnancy at 21 weeks of gestation for evaluation of oligo- a single umbilical artery were delivered by cesarean section hydramnios in one co-twin. -
The Value of Perinatal Autopsy in the Evaluation of Genitourinary and Anorectal Malformations
THE VALUE OF PERINATAL AUTOPSY IN THE EVALUATION OF GENITOURINARY AND ANORECTAL MALFORMATIONS DISSERTATION SUBMITTED FOR M.D. in PATHOLOGY THE TAMILNADU DR.M.G.R MEDICAL UNIVERSITY, CHENNAI DEPARTMENT OF PATHOLOGY PSG INSTITUTE OF MEDICAL SCIENCES& RESEARCH PEELAMEDU, COIMBATORE- 641 004 TAMILNADU, INDIA Certificates CERTIFICATE This is to certify that the dissertation work entitled “THE VALUE OF PERINATAL AUTOPSY IN THE EVALUATION OF GENITOURINARY AND ANORECTAL MALFORMATIONS” submitted by Dr. D. Pavithra, is a bonafide work done by her, during the post-graduation study period in the department of Pathology of PSGIMS & R, from June 2017 to April 2020. This work was done under the guidance of Dr. G. Umamaheshwari, Associate Professor, Department of Pathology, PSGIMS & R. Dr. T M SubbaRao Dr. S. Ramalingam Professor & HOD, Pathology Dean PSGIMS&R PSGIMS&R Coimbatore – 04 Coimbatore – 04 CERTIFICATE This is to certify that this dissertation work entitled “THE VALUE OF PERINATAL AUTOPSY IN THE EVALUATION OF GENITOURINARY AND ANORECTAL MALFORMATIONS” submitted by Dr. D. Pavithra, with registration Number 201713401 to The Tamilnadu Dr MGR Medical University, Chennai, for the award of Doctor of Medicine in Pathology, is a bonafide record of research work carried out by her under my guidance. The contents of this dissertation, in full or in parts, have not been submitted to any other Institute or University for the award of any degree or diploma. Dr. G.Umamaheswari Associate Professor, Department of Pathology PSGIMS&R Coimbatore DECLARATION I, Dr. D. Pavithra, do hereby declare that the thesis entitled “THE VALUE OF PERINATAL AUTOPSY IN THE EVALUATION OF GENITOURINARY AND ANORECTAL MALFORMATIONS” is a bonafide work done by me under the guidance of Dr G. -
10 Persistent Cloaca – Clinical Aspects
201 10 Persistent Cloaca – Clinical Aspects Alexander M. Holschneider and Horst Scharbatke Contents In contrast, the cloacal membrane is always too short in abnormal rodent embryos and the region of the 10.1 Introduction . 201 future anal opening is missing, in contrast to normal 10.2 General Clinical Aspects . 201 mouse embryos (see Chap. 4 for a detailed descrip- 10.3 Classification of Persistent Cloacas . 202 tion) [5]. 10.3.1 The Perineum . 202 Several experimental models of ARM including 10.3.2 UGS Variations . 202 persistent cloaca exist. They are based on the terato- 10.3.3 Vaginal Variations . 202 genic effect of ethylenethiourea in the rat [6] and ex- 10.3.4 Rectal Variations . 202 10.4 Associated Malformations . 203 posure of rat fetuses to adriamycin [7] or etretinate, a 10.5 Initial Management of the Newborn . 207 long-acting vitamin A analog, in mice [8]. 10.5.1 Diagnostic Management . 207 A molecular basis for ARM was first shown by References . 208 Kimmel et al. [9]. In the murine model of ARM; Gli3-/-mutants exhibited anal stenosis and ectopic anus, Gli2-/-mutants exhibited imperforate anus and rectourethral fistula, and Gli2-/-Gli3+/- mutants de- veloped a cloacal abnormality. In addition, isochro- 10.1 Introduction mosome 18q has been shown to cause megacystis, intrauterine growth retardation, and cloacal dysgen- Persistent cloaca represents the most complex de- esis sequence in a fetus [10]. Keppler-Noreuil [11] formity in female anorectal, vaginal, and urogenital suggests a possible etiologic role for homeobox genes, malformations. It is defined as a defect in which the such as HLXB9, with mutations resulting in ARM rectum, one or two vaginas and the urinary tract con- and spinal abnormalities. -
7.1 Birth Defects Code List
7.1 BIRTH DEFECTS CODE LIST Based on the British Pediatric Association (BPA) Classification of Diseases (1979) and the World Health Organization's International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) (1979) Code modifications developed by Division of Birth Defects and Developmental Disabilities National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Public Health Service U.S. Department of Health and Human Services Atlanta, Georgia 30333 and Birth Defects Epidemiology and Surveillance Branch Epidemiology and Disease Surveillance Unit Texas Department of State Health Services 1100 West 49th Street Austin, TX 78756 Revised July 31, 2019 TABLE OF CONTENTS Table of Contents .................................................................................................................................................. 2 Introduction To Birth Defect Diagnosis Coding ................................................................................................. 7 Purpose ............................................................................................................................................................ 7 BPA coding system .......................................................................................................................................... 7 Description of the BPA code ............................................................................................................................ 8 Problems with the