Second‑Trimester Fetal Autopsy
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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. -
Diagnostic Approach to Congenital Cystic Masses of the Neck from a Clinical and Pathological Perspective
Review Diagnostic Approach to Congenital Cystic Masses of the Neck from a Clinical and Pathological Perspective Amanda Fanous 1,†, Guillaume Morcrette 2,†, Monique Fabre 3, Vincent Couloigner 1,4 and Louise Galmiche-Rolland 5,* 1 Pediatric Otolaryngology-Head and Neck Surgery, AP-HP, Hôpital Universitaire Necker Enfants Malades, 75015 Paris, France; [email protected] (A.F.); [email protected] (V.C.) 2 Department of Pediatric Pathology, AP-HP, Hôpital Robert Debré, 75019 Paris, France; [email protected] 3 Department of Pathology, AP-HP, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, 75015 Paris, France; [email protected] 4 Faculté de Médecine, Université de Paris, 75015 Paris, France 5 Department of Pathology, University Hospital of Nantes, 44000 Nantes, France * Correspondence: [email protected] † These authors contributed equally to this work. Abstract: Background: neck cysts are frequently encountered in pediatric medicine and can present a diagnostic dilemma for clinicians and pathologists. Several clinical items enable to subclassify neck cyst as age at presentation, anatomical location, including compartments and fascia of the neck, and radiological presentation. Summary: this review will briefly describe the clinical, imaging, pathologi- cal and management features of (I) congenital and developmental pathologies, including thyroglossal duct cyst, branchial cleft cysts, dermoid cyst, thymic cyst, and ectopic thymus; (II) vascular malforma- Citation: Fanous, A.; Morcrette, G.; Fabre, M.; Couloigner, V.; tions, including lymphangioma. Key Messages: pathologists should be familiar with the diagnostic Galmiche-Rolland, L. Diagnostic features and clinicopathologic entities of these neck lesions in order to correctly diagnose them and Approach to Congenital Cystic to provide proper clinical management. -
Bicornuate Uterus with Unilateral Fibroid - Surgical Procedure Or LNG-IUS – a Conservative Approach in a Patient Who Opted LNG As Contraception
Jemds.com Case Report Bicornuate Uterus with Unilateral Fibroid - Surgical Procedure or LNG-IUS – A Conservative Approach in a Patient Who Opted LNG as Contraception Ankita Yadav1, Shashi Prateek2, Latika Chawla3, Shailja Sharma4, Deepti Choudhary5 1Department of Obstetrics and Gynaecology, AIIMS Rishikesh, Dehradun, Uttarakhand, India. 2Department of Obstetrics and Gynaecology, AIIMS Rishikesh, Dehradun, Uttarakhand, India. 3Department of Obstetrics and Gynaecology, AIIMS Rishikesh, Dehradun, Uttarakhand, India. 4Department of Obstetrics and Gynaecology, AIIMS Rishikesh, Dehradun, Uttarakhand, India. 5Department of Obstetrics and Gynaecology, AIIMS Rishikesh, Dehradun, Uttarakhand, India INTRODUCTION Bicornuate uterus with leiomyoma is rare. A 30 - year - old patient with bicornuate Corresponding Author: uterus with fibroid presented with abnormal - uterine - bleeding and was treated non Dr. Latika Chawla, - surgically with LNG - IUS. Uterine fibroids and AUB affect the quality of life and Department of Obstetrics and Gynaecology, AIIMS Rishikesh-249203, remain a leading indication for hysterectomy. In young women, uterine preservation Dehradun, Uttarakhand, approaches should be preferred as far as possible. India. Abnormalities in fusion or formation of Mullerian duct results in uterine E-mail: [email protected] structural and functional abnormalities.1 One of the Mullerian duct anomalies, bicornuate uterus, occurs due to incomplete fusion of utero-vaginal horns at the level DOI: 10.14260/jemds/2020/640 of fundus. Bicornuate uterus is the most common Mullerian duct anomaly (25 % of cases )2,3 and association of bicornuate uterus with leiomyoma is very rare and there How to Cite This Article: Yadav A, Prateek S, Chawla L, et al. - have been very few cases reported till now.4,5 A case of bicornuate uterus with Bicornuate uterus with unilateral fibroid- unilateral fibroid is being reported who presented with abnormal uterine bleeding surgical procedure or lng- ius (a and pelvic pain and was treated non-surgically with LNG - IUS. -
Diseases of the Digestive System (KOO-K93)
CHAPTER XI Diseases of the digestive system (KOO-K93) Diseases of oral cavity, salivary glands and jaws (KOO-K14) lijell Diseases of pulp and periapical tissues 1m Dentofacial anomalies [including malocclusion] Excludes: hemifacial atrophy or hypertrophy (Q67.4) K07 .0 Major anomalies of jaw size Hyperplasia, hypoplasia: • mandibular • maxillary Macrognathism (mandibular)(maxillary) Micrognathism (mandibular)( maxillary) Excludes: acromegaly (E22.0) Robin's syndrome (087.07) K07 .1 Anomalies of jaw-cranial base relationship Asymmetry of jaw Prognathism (mandibular)( maxillary) Retrognathism (mandibular)(maxillary) K07.2 Anomalies of dental arch relationship Cross bite (anterior)(posterior) Dis to-occlusion Mesio-occlusion Midline deviation of dental arch Openbite (anterior )(posterior) Overbite (excessive): • deep • horizontal • vertical Overjet Posterior lingual occlusion of mandibular teeth 289 ICO-N A K07.3 Anomalies of tooth position Crowding Diastema Displacement of tooth or teeth Rotation Spacing, abnormal Transposition Impacted or embedded teeth with abnormal position of such teeth or adjacent teeth K07.4 Malocclusion, unspecified K07.5 Dentofacial functional abnormalities Abnormal jaw closure Malocclusion due to: • abnormal swallowing • mouth breathing • tongue, lip or finger habits K07.6 Temporomandibular joint disorders Costen's complex or syndrome Derangement of temporomandibular joint Snapping jaw Temporomandibular joint-pain-dysfunction syndrome Excludes: current temporomandibular joint: • dislocation (S03.0) • strain (S03.4) K07.8 Other dentofacial anomalies K07.9 Dentofacial anomaly, unspecified 1m Stomatitis and related lesions K12.0 Recurrent oral aphthae Aphthous stomatitis (major)(minor) Bednar's aphthae Periadenitis mucosa necrotica recurrens Recurrent aphthous ulcer Stomatitis herpetiformis 290 DISEASES OF THE DIGESTIVE SYSTEM Diseases of oesophagus, stomach and duodenum (K20-K31) Ill Oesophagitis Abscess of oesophagus Oesophagitis: • NOS • chemical • peptic Use additional external cause code (Chapter XX), if desired, to identify cause. -
Zellweger Syndrome: Biochemical and Morphological Studies on Two Patients Treated with Clofibrate
003 1-3998/85/19 12-1356$02.00/0 PEDIATRIC RESEARCH Vol. 19, No. 12, 1985 Copyright O 1985 International Pediatric Research Foundation, Inc. Printed in (I.S. A. Zellweger Syndrome: Biochemical and Morphological Studies on Two Patients Treated with Clofibrate PAUL B. LAZAROW, VIRGINIA BLACK, HELEN SHIO, YUKIO FUJIKI, AMIYA K. HAJRA, NABANITA S. DATTA, BABU S. BANGARU, AND JOSEPH DANCIS The Rockefiller University, 1230 York Avenue, New York, New York 10021 [P.B.L., H.S., Y.F.] Departments of Cell Biology [V.B.] and Pediatrics [B.S.B., J.D.], New York University School of Medicine, 550 First Avenue, New York, NY 10016; and Neuroscience Laboratory, The University of Michigan, Ann Arbor, Michigan 48109 [A.K.H., N.S.D.] ABSTRACT. Two infants with Zellweger syndrome (cer- genetic change, which is implied by the observed autosomal ebro-hepato-renal syndrome) have been studied bio- recessive mode of inheritance (2)? The functions of peroxisomes chemically and morphologically. Peroxisomal enzymes in- include respiration (forming HZ02)(12), fatty acid catabolism volved in respiration, fatty acid @-oxidation,and plasmal- (13, 14), and the initial steps in plasmalogen biosynthesis (15). ogen biosynthesis were assessed. In liver, catalase was The peroxisomal fatty acid P-oxidation system acts on saturated present in normal amounts but was located in the cell and unsaturated fatty acyl-CoAs with chainlengths from 6 to 26 cytosol. Dihydroxyacetone phosphate acyltransferase ac- (14, 16, 17), the sidechain of cholesterol (18), dicarboxylic fatty tivity was less than one-tenth of normal. The amount of acids (l9), and glutaryl-CoA (20). -
Sonography of the Salivary Glands and Soft Tissue Lesions of the Neck
Ultrasound of the liver …. 02.05.2011 08:38 1 EFSUMB – European Course Book Editor: Christoph F. Dietrich Sonography of the salivary glands and soft tissue lesions of the neck Norbert Gritzmann1, Susanne A. Quis1, Rhodri M. Evans2 3Dr. Rhodri M Evans. Consultant Radiologist and Senior Clinical Tutor, Morriston Hospital, Swansea University Medical School, Clinical Director Diagnostics, Abertawe Bro Morgannwg University LHB. E mail: [email protected] Corresponding author1: Univ. Prof. Dr. Norbert Gritzmann Gruppenpraxis für Radiologie Esslinger Hauptstr.89 1220 Vienna Austria Tel 0043 676 84 04 64 Fax 0043 676 84 04 64 email: [email protected] Ultrasound of the liver …. CFD 02.05.2011 08:38 2 Content Content ....................................................................................................................................... 2 Topography and sonographic anatomy of the salivary glands................................................... 3 Sonographic anatomy............................................................................................................. 3 Parotid gland ...................................................................................................................... 3 Color Duplex Doppler.................................................................................................... 3 Submandibular gland.......................................................................................................... 4 Sublingual gland................................................................................................................ -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Malignant Ectopic Thymoma in the Neck: a Case Report
AJNR Am J Neuroradiol 20:1747±1749, October 1999 Case Report Malignant Ectopic Thymoma in the Neck: A Case Report Jung Im Jung, Hak Hee Kim, Seog Hee Park, and Youn Soo Lee Summary: We report a case of malignant ectopic thymoma phytic reddish mass in the left tongue base. Contrast-enhanced in the neck. Contrast-enhanced CT of the neck showed a CT of the neck showed an ill-de®ned, 2 3 3-cm, densely en- well-de®ned inhomogeneously enhancing mass in the left hancing mass in the left tongue base (Fig 1C). Multiple, round, conglomerate lymph nodes with central hypoattenuation and a jugulodigastric chain. One year after surgery, the mass had peripherally enhancing rim were noted in the left posterior metastasized to the tongue base, and CT of the neck neck. Biopsy and subsequent surgery, including hemiglossec- showed an ill-de®ned densely enhancing mass with tomy and radical neck dissection, revealed metastatic malig- lymphadenopathy. nant thymoma (Fig 1D±E). After surgery, radiation therapy was administered. The thymus anatomically originates from the su- perior neck during early fetal life and descends to Discussion the mediastinum. During this descent, remnants of Thymus develops from the ventral portion of the thymic tissue occasionally are implanted along the third and fourth pharyngeal pouches. This descends cervical pathway and may appear later as an ectop- into the anterior mediastinum by the sixth week of ic cervical thymus (1). Although rare, malignant gestation. Thymic ectopia results from failure of thymoma may develop from an ectopic thymus (2). this migration. Aberrant nodules of thymic tissue We present a case of malignant thymoma occurring are found in approximately 20% of humans. -
Peroxisomal Bifunctional Enzyme Deficiency
Peroxisomal bifunctional enzyme deficiency. P A Watkins, … , A B Moser, M E Beard J Clin Invest. 1989;83(3):771-777. https://doi.org/10.1172/JCI113956. Research Article Peroxisomal function was evaluated in a male infant with clinical features of neonatal adrenoleukodystrophy. Very long chain fatty acid levels were elevated in both plasma and fibroblasts, and beta-oxidation of very long chain fatty acids in cultured fibroblasts was significantly impaired. Although the level of the bile acid intermediate trihydroxycoprostanoic acid was slightly elevated in plasma, phytanic acid and L-pipecolic acid levels were normal, as was plasmalogen synthesis in cultured fibroblasts. The latter three parameters distinguish this case from classical neonatal adrenoleukodystrophy. In addition, electron microscopy and catalase subcellular distribution studies revealed that, in contrast to neonatal adrenoleukodystrophy, peroxisomes were present in the patient's tissues. Immunoblot studies of peroxisomal beta- oxidation enzymes revealed that the bifunctional enzyme (enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase) was deficient in postmortem liver samples, whereas acyl-CoA oxidase and the mature form of beta-ketothiolase were present. Density gradient centrifugation of fibroblast homogenates confirmed that intact peroxisomes were present. Immunoblots of fibroblasts peroxisomal fractions showed that they contained acyl-CoA oxidase and beta-ketothiolase, but bifunctional enzyme was not detected. Northern analysis, however, revealed that mRNA coding for the bifunctional enzyme was present in the patient's fibroblasts. These results indicate that the primary biochemical defect in this patient is a deficiency of peroxisomal bifunctional enzyme. It is of interest that the phenotype of this patient resembled neonatal adrenoleukodystrophy and would not have been […] Find the latest version: https://jci.me/113956/pdf Peroxisomal Bifunctional Enzyme Deficiency Paul A. -
Zellweger Spectrum Disorder
ZELLWEGER SPECTRUM DISORDER What is it? Zellweger Spectrum Disorder (ZSD) was recently viewed as 3 separate diseases but today is categorized as set of disorders that form a spectrum, or continuum, of 1 disease. This spectrum can range from mild Infantile Refsum Disease (IRD), to moderate Neonatal Adrenoleukodystrophy (NALD), to severe Zellweger Syndrome (ZS) ZSD is also known as peroxisome biogenesis disorders (PBDs). These disorders are caused by a loss of function in important parts of your cells called “peroxisomes,” which are responsible for breaking down fats and chemicals and getting rid of waste so that your body can function properly. This disorder can affect many parts of the body from the eyes to the liver. The various body systems and functions as described below. Nutrition Malabsorption of nutrients can lead to poor growth, feeding problems, and deficiency in fat-soluble vitamins. Hearing Varying degree of hearing loss requires the child receive a yearly evaluation . Vision Vision loss is the most common problem. Neurological Improper development of the white matter in the brain (leukodystrophy) results in nerve damage and can potentially affect their development. Damage to the nerves that send information from the brain to the rest of the body (peripheral neuropathy) can often cause numbness or weakness in the hands and/or feet. Walking abnormality is the main neurological complication in adults with ZSDs. In people with mild forms of ZSDs, nerve damage to the muscles, skin, and internal organs usually begins during adolescence. Kidney Kidney issues occur in children 4 years and older and include kidney stones, kidney cyst, and kidney failure. -
Blueprint Genetics Comprehensive Growth Disorders / Skeletal
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Test code: MA4301 Is a 374 gene panel that includes assessment of non-coding variants. This panel covers the majority of the genes listed in the Nosology 2015 (PMID: 26394607) and all genes in our Malformation category that cause growth retardation, short stature or skeletal dysplasia and is therefore a powerful diagnostic tool. It is ideal for patients suspected to have a syndromic or an isolated growth disorder or a skeletal dysplasia. About Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders This panel covers a broad spectrum of diseases associated with growth retardation, short stature or skeletal dysplasia. Many of these conditions have overlapping features which can make clinical diagnosis a challenge. Genetic diagnostics is therefore the most efficient way to subtype the diseases and enable individualized treatment and management decisions. Moreover, detection of causative mutations establishes the mode of inheritance in the family which is essential for informed genetic counseling. For additional information regarding the conditions tested on this panel, please refer to the National Organization for Rare Disorders and / or GeneReviews. Availability 4 weeks Gene Set Description Genes in the Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACAN# Spondyloepimetaphyseal dysplasia, aggrecan type, AD/AR 20 56 Spondyloepiphyseal dysplasia, Kimberley -
Physical Assessment of the Newborn: Part 3
Physical Assessment of the Newborn: Part 3 ® Evaluate facial symmetry and features Glabella Nasal bridge Inner canthus Outer canthus Nasal alae (or Nare) Columella Philtrum Vermillion border of lip © K. Karlsen 2013 © K. Karlsen 2013 Forceps Marks Assess for symmetry when crying . Asymmetry cranial nerve injury Extent of injury . Eye involvement ophthalmology evaluation © David A. ClarkMD © David A. ClarkMD © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 1 Physical Assessment of the Newborn: Part 3 Bruising Moebius Syndrome Congenital facial paralysis 7th cranial nerve (facial) commonly Face presentation involved delivery . Affects facial expression, sense of taste, salivary and lacrimal gland innervation Other cranial nerves may also be © David A. ClarkMD involved © David A. ClarkMD . 5th (trigeminal – muscles of mastication) . 6th (eye movement) . 8th (balance, movement, hearing) © K. Karlsen 2013 © K. Karlsen 2013 Position, Size, Distance Outer canthal distance Position, Size, Distance Outer canthal distance Normal eye spacing Normal eye spacing inner canthal distance = inner canthal distance = palpebral fissure length Inner canthal distance palpebral fissure length Inner canthal distance Interpupillary distance (midpoints of pupils) distance of eyes from each other Interpupillary distance Palpebral fissure length (size of eye) Palpebral fissure length (size of eye) © K. Karlsen 2013 © K. Karlsen 2013 Position, Size, Distance Outer canthal distance