2.1.2021 Examples of High-Risk Diagnoses and Conditions For
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Arthrogryposis Multiplex Congenita
American Research Journal of Pediatrics Volume 2, Issue 1, pp: 1-5 Research Article Open Access Arthrogryposis Multiplex Congenita – Case Report Faton Krasniqi1, Shpetim Salihu1, Isabere Krasniqi3, Edmond Pistulli2* 1University Clinical Center of Kosova- Neonatology Clinic, Prishtina 2Faculty of Technical Medical Sciences, University of Medicine, Tirana-Albania 3Main Head Family Center, Prishtina-Kosovo *[email protected] Abstract: Arthrogryposis multiplex congenita is a rare disorder that accompanies with multiple joint been reported from Asia, Africa and Europe. Incidence is about 1:3000 to 1:10.000 of all live newborns. The contractures, which can occur at delivery and are non progressive. It affects both sexes. Most of the cases have causes, for now are unknown. However, this disorder can be provoked from neuropathic and myopathic diseases or some another cause that decreases the mobility of fetal joints. Great joints of both extremities are more attacked. The muscles of the extremities that are attacked can be hypoplastic. Also, the IQ of these children multiplex congenita, that has been resuscitated in delivery room and endotracheal intubation was needed. can be affected. We have presented a newborn female, born in term, by normal delivery, with arthrogryposis In utero, there has been a suspicion from the gynecologists at the end of pregnancy, for esophageal atresia. After delivery, all the needed consults and examinations have been realized. After three weeks in Neonatal Intensive Care Unit, the baby has been discharged in a better general condition, with recommendations to further consultations with orthopedics, physiatrician and pediatrician-neurologists. Key words: arthrogryposis, multiple contractures of joints, congenital defect Introduction Arthrogryposis multiplex congenita refers to a heterogeneous group of congenital defects that manifests with multiple joint contractures (1). -
Amyoplasia Or Arthrogryposis Multiplex Congenita [AMC]
Arthrogryposis (Amyoplasia or Arthrogryposis Multiplex Congenita [AMC]) David S. Feldman, MD Chief of Pediatric Orthopedic Surgery Professor of Orthopedic Surgery & Pediatrics NYU Langone Medical Center & NYU Hospital for Joint Diseases OVERVIEW The word “arthrogryposis” is actually a catch-all term used to describe instances of joint contractures that are present at birth. Treatment varies according to the cause and severity of the condition but when treatment begins at an early age, children can gradually become stronger and experience improved joint mobility and function that can last the rest of their lives. DESCRIPTION Arthrogryposis is a rare medical condition that only occurs in about 1 in 10,000 live births. The condition is characterized by malformed or stiff joints, muscles, and tendons that result in arms, legs, hands, and / or feet having limited to no mobility. The cognitive function of children with the condition is not affected. In fact, they are often extremely bright and communicative. CAUSES There is no one specific cause of arthrogryposis but the most common causes are genetics and intrauterine viruses. Genetic causes often only involve the hands and feet while other causes typically result in more generalized weakness and contractures. DIAGNOSIS METHODS Arthrogryposis tends to be found in its most severe form during newborn examinations. Given the various possible causes of arthrogryposis, proper diagnosis plays a very important role in determining treatment. Diagnosis methods may include MRI, muscle biopsies, blood tests, DNA testing, studies, and / or observations. TREATMENT Arthrogryposis may require very complex treatment and should therefore only be undertaken by health professionals who are not just familiar with the disease but have a high level of expertise in treating arthrogrypotic patients. -
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). -
Arthrogryposis Multiplex Congenita Part 1: Clinical and Electromyographic Aspects
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.4.425 on 1 August 1972. Downloaded from Journal ofNeurology, Neurosurgery, anid Psychiatry, 1972, 35, 425-434 Arthrogryposis multiplex congenita Part 1: Clinical and electromyographic aspects E. P. BHARUCHA, S. S. PANDYA, AND DARAB K. DASTUR From the Children's Orthopaedic Hospital, and the Neuropathology Unit, J.J. Group of Hospitals, Bombay-8, India SUMMARY Sixteen cases with arthrogryposis multiplex congenita were examined clinically and electromyographically; three of them were re-examined later. Joint deformities were present in all extremities in 13 of the cases; in eight there was some degree of mental retardation. In two cases, there was clinical and electromyographic evidence of a myopathic disorder. In the majority, the appearances of the shoulder-neck region suggested a developmental defect. At the same time, selective weakness of muscles innervated by C5-C6 segments suggested a neuropathic disturbance. EMG revealed, in eight of 13 cases, clear evidence of denervation of muscles, but without any regenerative activity. The non-progressive nature of this disorder and capacity for improvement in muscle bulk and power suggest that denervation alone cannot explain the process. Re-examination of three patients after two to three years revealed persistence of the major deformities and muscle Protected by copyright. weakness noted earlier, with no appreciable deterioration. Otto (1841) appears to have been the first to ventricles, have been described (Adams, Denny- recognize this condition. Decades later, Magnus Brown, and Pearson, 1953; Fowler, 1959), in (1903) described it as multiple congenital con- addition to the spinal cord changes. -
Treatment and Outcomes of Arthrogryposis in the Lower Extremity
Received: 25 June 2019 Revised: 31 July 2019 Accepted: 1 August 2019 DOI: 10.1002/ajmg.c.31734 RESEARCH ARTICLE Treatment and outcomes of arthrogryposis in the lower extremity Reggie C. Hamdy1,2 | Harold van Bosse3 | Haluk Altiok4 | Khaled Abu-Dalu5 | Pavel Kotlarsky5 | Alicja Fafara6,7 | Mark Eidelman5 1Shriners Hospitals for Children, Montreal, Québec, Canada Abstract 2Department of Pediatric Orthopaedic In this multiauthored article, the management of lower limb deformities in children Surgery, Faculty of Medicine, McGill with arthrogryposis (specifically Amyoplasia) is discussed. Separate sections address University, Montreal, Québec, Canada 3Shriners Hospitals for Children, Philadelphia, various hip, knee, foot, and ankle issues as well as orthotic treatment and functional Pennsylvania outcomes. The importance of very early and aggressive management of these defor- 4 Shriners Hospitals for Children, Chicago, mities in the form of intensive physiotherapy (with its various modalities) and bracing Illinois is emphasized. Surgical techniques commonly used in the management of these con- 5Pediatric Orthopedics, Technion Faculty of Medicine, Ruth Children's Hospital, Haifa, ditions are outlined. The central role of a multidisciplinary approach involving all Israel stakeholders, especially the families, is also discussed. Furthermore, the key role of 6Faculty of Health Science, Institute of Physiotherapy, Jagiellonian University Medical functional outcome tools, specifically patient reported outcomes, in the continuous College, Krakow, Poland monitoring and evaluation of these deformities is addressed. Children with 7 Arthrogryposis Treatment Centre, University arthrogryposis present multiple problems that necessitate a multidisciplinary Children's Hospital, Krakow, Poland approach. Specific guidelines are necessary in order to inform patients, families, and Correspondence health care givers on the best approach to address these complex conditions Reggie C. -
Evaluation of Fetal Orbits and Ears
Evaluation of Fetal Orbits and Ears Maria A. Calvo-Garcia, MD. Associate Professor of Radiology Cincinnati Children’s Hospital Medical Center Disclosure • I have no disclosures Goals & Objectives • Review basic US anatomic views for the evaluation of the orbits and ears • Describe some of the major malformations involving the orbits and ears Background on Facial Abnormalities • Important themselves • May also indicate an underlying problem – Chromosome abnormality/ Syndromic conditions Background on Facial Abnormalities • Assessment of the face is included in all standard fetal anatomic surveys • Recheck the face if you found other anomalies • And conversely, if you see facial anomalies look for other systemic defects Background on Facial Abnormalities • Fetal chromosomal analysis is often indicated • Fetal MRI frequently requested in search for additional malformations • US / Fetal MRI, as complementary techniques: information for planning delivery / neonatal treatment • Anatomic evaluation • Malformations (orbits, ears) Orbits Axial View • Bony orbits: IOD Orbits Axial View • Bony orbits: IOD and BOD, which correlates with GA, will allow detection of hypo-/ hypertelorism Orbits Axial View • Axial – Bony orbits – Intraorbital anatomy: • Globe • Lens Orbits Axial View • Axial – Bony orbits – Intraorbital anatomy: • Globe • Lens Orbits Axial View • Hyaloid artery is seen as an echogenic line bisecting the vitreous • By the 8th month the hyaloid system involutes – If this fails: persistent hyperplastic primary vitreous Malformations of -
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. -
The Orthopaedic Management of Arthrogryposis Multiplex Congenita
Current Concept Review The Orthopaedic Management of Arthrogryposis Multiplex Congenita Harold J. P. van Bosse, MD and Dan A. Zlotolow, MD Shriners Hospital for Children, Philadelphia, PA Abstract: Arthrogryposis multiplex congenita (AMC) describes a baby born with multiple joint contractures that results from fetal akinesia with at least 400 different causes. The most common forms of AMC are amyoplasia (classic ar- throgryposis) and the distal arthrogryposes. Over the past two decades, the orthopaedic treatment of children with AMC has evolved with a better appreciation of the natural history. Most adults with arthrogryposis are ambulatory, but less than half are fully independent in self-care and most are limited by upper extremity dysfunction. Chronic and epi- sodic pain in adulthood—particularly of the foot and back—is frequent, limiting both ambulation and standing. To improve upon the natural history, upper extremity treatments have advanced to improve elbow motion and wrist and thumb positioning. Attempts to improve the ambulatory ability and decrease future pain include correction of hip and knee contractures and emphasizing casting treatments of foot deformities. Pediatric patients with arthrogryposis re- quire a careful evaluation, with both a physical examination and an assessment of needs to direct their treatment. Fur- ther outcomes studies are needed to continue to refine procedures and define the appropriate candidates. Key Concepts: • Arthrogryposis multiplex congenita (AMC) is a term that describes a baby born with multiple joint contractures. Amyoplasia is the most common form of AMC, accounting for one-third to one-half of all cases, with the distal arthrogryposes as the second largest AMC type. -
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