Congenital Anomalies
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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 -
Glossary for Narrative Writing
Periodontal Assessment and Treatment Planning Gingival description Color: o pink o erythematous o cyanotic o racial pigmentation o metallic pigmentation o uniformity Contour: o recession o clefts o enlarged papillae o cratered papillae o blunted papillae o highly rolled o bulbous o knife-edged o scalloped o stippled Consistency: o firm o edematous o hyperplastic o fibrotic Band of gingiva: o amount o quality o location o treatability Bleeding tendency: o sulcus base, lining o gingival margins Suppuration Sinus tract formation Pocket depths Pseudopockets Frena Pain Other pathology Dental Description Defective restorations: o overhangs o open contacts o poor contours Fractured cusps 1 ww.links2success.biz [email protected] 914-303-6464 Caries Deposits: o Type . plaque . calculus . stain . matera alba o Location . supragingival . subgingival o Severity . mild . moderate . severe Wear facets Percussion sensitivity Tooth vitality Attrition, erosion, abrasion Occlusal plane level Occlusion findings Furcations Mobility Fremitus Radiographic findings Film dates Crown:root ratio Amount of bone loss o horizontal; vertical o localized; generalized Root length and shape Overhangs Bulbous crowns Fenestrations Dehiscences Tooth resorption Retained root tips Impacted teeth Root proximities Tilted teeth Radiolucencies/opacities Etiologic factors Local: o plaque o calculus o overhangs 2 ww.links2success.biz [email protected] 914-303-6464 o orthodontic apparatus o open margins o open contacts o improper -
Genu Varum and Genu Valgum Genu Varum and Genu Valgum
Common Pediatric Lower Limb Disorders Dr.Kholoud Al-Zain Assistant Professor Consultant, Pediatric Orthopedic Surgeon Nov- 2018 Acknowledgement: Dr.Abdalmonem Alsiddiky Dr.Khalid Bakarman Prof. M. Zamzam Topics to Cover 1. In-toeing 2. Genu (varus & valgus), & proximal tibia vara 3. Club foot 4. L.L deformities in C.P patients 5. Limping & leg length inequality 6. Leg aches 1) Intoeing Intoeing- Evaluation • Detailed history – Onset, who noticed it, progression – Fall a lot – How sits on the ground • Screening examination (head to toe) • Pathology at the level of: – Femoral anteversion – Tibial torsion – Forefoot adduction – Wandering big toe Intoeing- Asses rotational profile Pathology Level Special Test • Femoral anteversion • Hips rotational profile: – Supine – Prone • Tibial torsion • Inter-malleolus axis: – Supine – Prone • Foot thigh axis • Forefoot adduction • Heel bisector line • Wandering big toe Intoeing- Special Test Foot Propagation Angle → normal is (-10°) to (+15°) Intoeing- Femoral Anteversion Hips rotational profile, supine → IR/ER normal = 40-45/45-50° Intoeing- Tibial Torsion Inter-malleolus axis Supine position Sitting position Intoeing- Tibial Torsion Foot Thigh Axis → normal (0°) to (-10°) Intoeing- Forefoot Adduction Heel bisector line → normal along 2 toe Intoeing- Adducted Big Toe Intoeing- Treatment • Establish correct diagnosis • Parents education • Annual clinic F/U → asses degree of deformity • Femoral anti-version → sit cross legged • Tibial torsion → spontaneous improvement • Forefoot adduction → anti-version -
Split Notochord Syndrome
0021-7557/04/80-01/77 Jornal de Pediatria Copyright © 2004 by Sociedade Brasileira de Pediatria RELATO DE CASO Síndrome do notocórdio fendido, variante rara do cisto neuroentérico A rare variant of neuroenteric cyst: split notochord syndrome Lisieux E. Jesus1, Cristiano G. França2 Resumo Abstract Objetivo: Estudo de um caso de síndrome do notocórdio fendido, Objective: We present a case of split notochord syndrome, an forma extremamente rara de disrafismo medular. A literatura pertinen- extremely rare form of spinal dysraphism. te, pesquisada através das bases de dados MEDLINE e LILACS, é Description: We treated a 2 month-old boy presenting with an analisada e sumarizada. extensive lumbosacral deformity, hydrocephalus and apparent enteric Descrição: Foi atendido lactente masculino de 2 meses de idade segments in the dorsal midline, accompanied by an enteric fistula apresentando extensa deformidade de coluna lombo-sacra, hidrocefa- and imperforated anus. The malformation was diagnosed as split lia e exteriorização de alças intestinais pela linha média dorsal, notochord syndrome. The baby died as a result of sepsis before acompanhada de fístula entérica e imperfuração anal. A malformação surgical treatment could be attempted. foi diagnosticada como síndrome do notocórdio fendido. A criança Comments: Split notochord syndrome is the rarest form of evoluiu para óbito secundário a sepse antes de ser feito qualquer neuroenteric cyst described until this moment (<25 cases in the tratamento cirúrgico. literature). It is frequently associated with anorectal malformation, Comentários: A síndrome do notocórdio fendido é a forma mais intestinal fistulae and hydrocephalus. Prognosis is not necessarily rara de cisto neuroentérico já descrita (<25 casos descritos em poor and survival is possible if digestive malformations, hydrocephalus literatura) e está associada freqüentemente a fístulas digestivas, and the dysraphism itself are treated simultaneously. -
Morphologic Diversity in Human Papillomavirus-Related Oropharyngeal Squamous Cell Carcinoma: Catch Me If You Can! James S Lewis Jr
Modern Pathology (2017) 30, S44–S53 S44 © 2017 USCAP, Inc All rights reserved 0893-3952/17 $32.00 Morphologic diversity in human papillomavirus-related oropharyngeal squamous cell carcinoma: Catch Me If You Can! James S Lewis Jr Department of Pathology, Microbiology, and Immunology; Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, TN, USA As the human papillomavirus (HPV)-related oropharyngeal squamous cell carcinoma epidemic has developed in the past several decades, it has become clear that these tumors have a wide variety of morphologic tumor types and features. For the practicing pathologist, it is critical to have a working knowledge about these in order to make the correct diagnosis, not to confuse them with other lesions, and to counsel clinicians and patients on their significance (or lack of significance) for treatment and outcomes. In particular, there are a number of pitfalls and peculiarities regarding HPV-related tumors and their nodal metastases that can easily result in misclassification and confusion. This article will discuss the various morphologic types and features of HPV- related oropharyngeal carcinomas, specific differential diagnoses when challenging, and, if established, the clinical significance of each finding. Modern Pathology (2017) 30, S44–S53; doi:10.1038/modpathol.2016.152 It is now well-established that human papilloma- Among its many effects on clinical practice, the virus (HPV) is responsible for a large fraction of oropharyngeal HPV epidemic has put pathologists at oropharyngeal squamous cell carcinomas (SCC), the forefront of diagnosis and recognition of these particularly in the United States and Europe.1 Many unique tumors, which are much less clinically have termed the increase in HPV-related orophar- aggressive than conventional head and neck SCC, 7 yngeal SCC as an epidemic.2,3 There are numerous and which are beginning to be managed differently. -
The Chiari Malformations *
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.72.suppl_2.ii38 on 1 June 2002. Downloaded from THE CHIARI MALFORMATIONS Donald M Hadley ii38* J Neurol Neurosurg Psychiatry 2002;72(Suppl II):ii38–ii40 r Hans Chiari1 first described three hindbrain disorders associated with hydrocephalus in 1891. They have neither an anatomical nor embryological correlation with each other, but Dthey all involve the cerebellum and spinal cord and are thought to belong to the group of abnormalities that result from failure of normal dorsal induction. These include neural tube defects, cephaloceles, and spinal dysraphic abnormalities. Symptoms range from headache, sensory changes, vertigo, limb weakness, ataxia and imbalance to hearing loss. Only those with a type I Chiari malformation may be born grossly normal. The abnormalities are best shown on midline sagittal T1 weighted magnetic resonance imaging (MRI),2 but suspicious features on routine axial computed tomographic brain scans (an abnormal IVth ventricle, a “full” foramen magnum, and absent cisterna magna) should be recognised and followed up with MRI. c CHIARI I This is the mildest of the hindbrain malformations and is characterised by displacement of deformed cerebellar tonsils more than 5 mm caudally through the foramen magnum.3 The brain- stem and IVth ventricle retain a relatively normal position although the IVth ventricle may be small copyright. and slightly distorted (fig 1). A number of subgroups have been defined. c In the first group, intrauterine hydrocephalus causes tonsillar herniation. Once myelinated the tonsils retain this pointed configuration and ectopic position. Patients tend to present in child- hood with hydrocephalus and usually with syringomyelia. -
Pierre Robin and the Syndrome That Bears His Name PETER RANDALL
Pierre Robin and the Syndrome That Bears His Name PETER RANDALL, M.D. WILTON M. KROGMAN, Ph.D. SOONA JAHINA, B.D.S., M.Sc. Philadelphia, Pennsylvania The Pierre Robin Syndrome refers to a combination of micrognathia (a small jaw) and glossoptosis (literally, a falling downward or back- ward of the tongue) in the newborn infant (Figure 1). These conditions are likely to cause obstruction of the upper airway, and they are fre- quently associated with an incomplete cleft of the palate. Patients with the Pierre Robin Syndrome may present a real emer- gency in the delivery room because of the obstructed upper airway, or the airway problem may not become manifest for several days or weeks (10, 11, 38). There is frequently a feeding problem, as well as problems associated with the cleft of the palate (if one is present) and also an unusual malocclusion (2, 5, 12, 16). In addition, it presents a fascinating anthropological puzzle (22, 23). This paper will review the work of Dr. Robin, consider some possible etiologies of this syndrome, and report on some work on mandibular bone growth in a group of such patients. History Pierre Robin was far from the first person to recognize this syndrome. One account is recorded in 1822 by St. Hilaire. In 1891 Taruffi men- tioned two subclassifications-hypomicrognatus (small jaw) and hypo- agnathus (absent jaw). In 1891, four cases, two of them having cleft palates, were reported by Lanneloague and Monard (12, 14). Shukow- sky in 1902 described a tongue to lip surgical adhesion to overcome the respiratory obstruction (34). -
Genetic and Flow Anomalies in Congenital Heart Disease
Published online: 2021-05-10 AIMS Genetics, 3(3): 157-166. DOI: 10.3934/genet.2016.3.157 Received: 01 July 2016 Accepted: 16 August 2016 Published: 23 August 2016 http://www.aimspress.com/journal/Genetics Review Genetic and flow anomalies in congenital heart disease Sandra Rugonyi* Department of Biomedical Engineering, Oregon Health & Science University, 3303 SW Bond Ave. M/C CH13B, Portland, OR 97239, USA * Correspondence: Email: [email protected]; Tel: +1-503-418-9310; Fax: +1-503-418-9311. Abstract: Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Heart formation is a finely orchestrated developmental process and slight disruptions of it can lead to severe malformations. Dysregulation of developmental processes leading to heart malformations are caused by genetic anomalies but also environmental factors including blood flow. Intra-cardiac blood flow dynamics plays a significant role regulating heart development and perturbations of blood flow lead to congenital heart defects in animal models. Defects that result from hemodynamic alterations recapitulate those observed in human babies, even those due to genetic anomalies and toxic teratogen exposure. Because important cardiac developmental events, such as valve formation and septation, occur under blood flow conditions while the heart is pumping, blood flow regulation of cardiac formation might be a critical factor determining cardiac phenotype. The contribution of flow to cardiac phenotype, however, is frequently ignored. -
Split Spinal Cord Malformations in Children
Split spinal cord malformations in children Yusuf Ersahin, M.D., Saffet Mutluer, M.D., Sevgül Kocaman, R.N., and Eren Demirtas, M.D. Division of Pediatric Neurosurgery, Department of Neurosurgery, and Department of Pathology, Ege University Faculty of Medicine, Izmir, Turkey The authors reviewed and analyzed information on 74 patients with split spinal cord malformations (SSCMs) treated between January 1, 1980 and December 31, 1996 at their institution with the aim of defining and classifying the malformations according to the method of Pang, et al. Computerized tomography myelography was superior to other radiological tools in defining the type of SSCM. There were 46 girls (62%) and 28 boys (38%) ranging in age from less than 1 day to 12 years (mean 33.08 months). The mean age (43.2 months) of the patients who exhibited neurological deficits and orthopedic deformities was significantly older than those (8.2 months) without deficits (p = 0.003). Fifty-two patients had a single Type I and 18 patients a single Type II SSCM; four patients had composite SSCMs. Sixty-two patients had at least one associated spinal lesion that could lead to spinal cord tethering. After surgery, the majority of the patients remained stable and clinical improvement was observed in 18 patients. The classification of SSCMs proposed by Pang, et al., will eliminate the current chaos in terminology. In all SSCMs, either a rigid or a fibrous septum was found to transfix the spinal cord. There was at least one unrelated lesion that caused tethering of the spinal cord in 85% of the patients. -
The Role of Echocardiography in the Management of Adult Patients with Congenital Heart Disease Following Operative Treatment
779 Review Article The role of echocardiography in the management of adult patients with congenital heart disease following operative treatment Kálmán Havasi, Nóra Ambrus, Anita Kalapos, Tamás Forster, Attila Nemes 2nd Department of Medicine and Cardiology Centre, Medical Faculty, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary Contributions: (I) Conception and design: K Havasi; (II) Administrative support: N Ambrus, A Kalapos; (III) Provision of study materials or patients: All authors; (IV) Collection and assembly of data: K Havasi; (V) Data analysis and interpretation: K Havasi, N Ambrus, A Kalapos; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Attila Nemes, MD, PhD, DSc, FESC. 2nd Department of Medicine and Cardiology Centre, Medical Faculty, Albert Szent-Györgyi Clinical Centre, University of Szeged, H-6725 Szeged, Semmelweis street 8, Szeged, Hungary. Email: [email protected]. Abstract: Treatment of congenital heart diseases has significantly advanced over the last few decades. Due to the continuously increasing survival rate, there are more and more adult patients with congenital heart diseases and these patients present at the adult cardiologist from the paediatric cardiology care. The aim of the present review is to demonstrate the role of echocardiography in some significant congenital heart diseases. Keywords: Echocardiography; congenital heart disease; adult Submitted Jul 03, 2018. Accepted for publication Sep 07, 2018. doi: 10.21037/cdt.2018.09.11 View this article at: http://dx.doi.org/10.21037/cdt.2018.09.11 Introduction if the patient’s condition is evaluated by the proper imaging modality. Therefore, the treating physician should know the Treatment of congenital heart diseases has significantly benefits, disadvantages and clinical indications of the certain advanced during the last few decades. -
Research Day 2021 Program
Western Michigan University ScholarWorks at WMU Research Day WMU Homer Stryker M.D. School of Medicine 2021 Research Day 2021 Program Western Michigan University Homer Stryker M.D. School of Medicine Follow this and additional works at: https://scholarworks.wmich.edu/medicine_research_day Part of the Life Sciences Commons, and the Medicine and Health Sciences Commons WMU ScholarWorks Citation Homer Stryker M.D. School of Medicine, Western Michigan University, "Research Day 2021 Program" (2021). Research Day. 298. https://scholarworks.wmich.edu/medicine_research_day/298 This Abstract is brought to you for free and open access by the WMU Homer Stryker M.D. School of Medicine at ScholarWorks at WMU. It has been accepted for inclusion in Research Day by an authorized administrator of ScholarWorks at WMU. For more information, please contact [email protected]. th 38 Annual Kalamazoo Community Medical and Health Sciences Virtual Research Day Wednesday, April 21, 2021 8:00 a.m. – 12:00 p.m. TABLE OF CONTENTS INTRODUCTION ........................................................................................................... 4 KEYNOTE SPEAKER.................................................................................................... 6 SCHEDULE ..................................................................................................................... 7 ORAL PRESENTATIONS ............................................................................................. 8 ORAL ABSTRACTS .................................................................................................... -
Birth Defect Series: Encephalocele
Birth Defect Series: Encephalocele What: Very early during pregnancy your baby’s brain, skull, and spine begin to develop. An encephalocele occurs when the baby’s skull does not come together completely over the brain. This causes parts of the brain to bulge through the skull. Resources for Illinois Why: Encephaloceles are known as neural tube defects. The neural Families · · · tube is the early form of what will become your baby’s brain and spinal cord. Neural tube defects occur during the first month of Adverse Pregnancy Outcomes Reporting pregnancy. Specific causes of most encephaloceles are not known at System http://www.dph.illinois.gov/ this time. Some neural tube defects may be caused by a lack of folic data-statistics/epidemiology/ apors acid. Folic acid is an important vitamin needed in the development of the neural tube. Doctors recommend that women who can get Centers for Disease pregnant get 400mcg (micrograms) of folic acid daily. Control and Prevention http://www.cdc.gov/ncbddd/ birthdefects/ encephalocele.html When: Encephaloceles are usually detected during pregnancy with the help of an ultrasound machine. However, small encephaloceles March of Dimes http:// may be detected after birth only. www.marchofdimes.org/ baby/neural-tube- defects.aspx How: Surgery is typically needed to repair encephaloceles. During surgery parts of the brain that are not functioning are removed, And visit your bulging brain parts are placed within the skull, and any facial de- doctor for more fects may be repaired. Babies with small encephaloceles may re- information. cover completely. Those with large amounts of brain tissue within the encephalocele may need other therapies following surgery.