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Klippel-Feil Syndrome and Thoracic Outlet Syndrome
Neurological Disorders & Epilepsy Journal Open Access Clinical Image Klippel-Feil Syndrome and Thoracic Outlet Syndrome Ali Rıza Sonkaya1*, Erkan Kaya2, Serdar Firtina3 and Mehmet AK4 1Department of Neurology, Okmeydam Training and Research Hospital, Turkey 2Department of Physical Medicine and Rehabilitation, Rehabilitation Hospital, Turkey 3Department of Cardiology, Cyprus Military Hospital, Turkey 4Department of Radiology, Ilker Celikcan Physical Medicine and Rehabilitation Hospital, Turkey A R T I C L E I N F O CLINICAL IMAGE Article history: Received: 08 September 2017 Klippel–Feil Syndrome (KFS) is a rare disease that was firstly described in Accepted: 12 October 2017 Published: 18 October 2017 1912 by Maurice Klippel and Andre Feil. It is a bone disorder recognized by the abnormal fusion of two or more spinal bones, it seem in the cervical Copyright: © 2017 Sonkaya AR et al., vertebrae. It has three major features which are short neck, limited age of Neurol Disord Epilepsy J This is an open access article distributed motion in the cervical spine and low hairline at the beck [1]. under the Creative Commons Attribution License, which permits unrestricted use, We report the case of a 26-year-old male patient was admitted to distribution, and reproduction in any medium, provided the original work is cardiology clinic with complaint of left arm and chest pain. Mitral valve properly cited. prolapse detected by transthoracic echocardiography. Patient was referred to Citing this article: Sonkaya AR, Kaya E, Firtina S, Mehmet AK. Klippel-Feil physical therapy and rehabilitation clinic due to cervical scoliosis and the short Syndrome and Thoracic Outlet Syndrome. Neurol Disord Epilepsy J. -
A Narrative Review of Poland's Syndrome
Review Article A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment Eman Awadh Abduladheem Hashim1,2^, Bin Huey Quek1,3,4^, Suresh Chandran1,3,4,5^ 1Department of Neonatology, KK Women’s and Children’s Hospital, Singapore, Singapore; 2Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain; 3Department of Neonatology, Duke-NUS Medical School, Singapore, Singapore; 4Department of Neonatology, NUS Yong Loo Lin School of Medicine, Singapore, Singapore; 5Department of Neonatology, NTU Lee Kong Chian School of Medicine, Singapore, Singapore Contributions: (I) Conception and design: EAA Hashim, S Chandran; (II) Administrative support: S Chandran, BH Quek; (III) Provision of study materials: EAA Hashim, S Chandran; (IV) Collection and assembly: All authors; (V) Data analysis and interpretation: BH Quek, S Chandran; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: A/Prof. Suresh Chandran. Senior Consultant, Department of Neonatology, KK Women’s and Children’s Hospital, Singapore 229899, Singapore. Email: [email protected]. Abstract: Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. -
Some Sequels of Abnormality at the Thoracic Outlet* by J
Thorax: first published as 10.1136/thx.2.1.1 on 1 March 1947. Downloaded from Thorax (1947), 2, 1. SOME SEQUELS OF ABNORMALITY AT THE THORACIC OUTLET* BY J. R. LEARMONTH Edinburgh This paper-on obstruction at the thoracic outlet-deals with the results of anomalies of bone and muscle; first rib, cervical rib, and scaleni. Though thoracic surgeons approach these structures from a different exposure, and with a different end in view, they may be interested in the related types of vascular and nervous disturbance, and may like to compare them with any anomalies thev have encountered in their own operative procedures and which were possibly not associated with clinical symptoms. MORPHOLOGY N~~~~~~~~~~~~~~~~~~~~~~~~1 http://thorax.bmj.com/ The- arrangement of the bones which form the thoracic outlet derives from the typical thoracic segment (Fig. 1). This con- sists of a central piece or centrum (the body of the vertebra) carrying a dorsal and a ventral hoop of bone. The dorsal hoop (neural arch) provides the laminae and spinous process. The central piece or centrum may be defective as on October 3, 2021 by guest. Protected copyright. to one half (hemivertebra), producing both scoliosis and absence of one rib, which inevit- ably alter the architecture of the thoracic out- let on both sides; or it may be fused with adjoining central pieces. The ventral hoop, or haemal arch, is much expanded in the thor- acic region. The haemal arch has a double origin, from a dorsal segment of bone, the pleurapophysis, and a ventral segment, the FIG. 1.-Typical thoracic segment *An address to the Society of Thoracic Surgeons (Owen). -
Modeling Congenital Disease and Inborn Errors of Development in Drosophila Melanogaster Matthew J
© 2016. Published by The Company of Biologists Ltd | Disease Models & Mechanisms (2016) 9, 253-269 doi:10.1242/dmm.023564 REVIEW SUBJECT COLLECTION: TRANSLATIONAL IMPACT OF DROSOPHILA Modeling congenital disease and inborn errors of development in Drosophila melanogaster Matthew J. Moulton and Anthea Letsou* ABSTRACT particularly difficult to manage clinically {e.g. CHARGE syndrome Fly models that faithfully recapitulate various aspects of human manifesting coloboma [emboldened words and phrases are defined disease and human health-related biology are being used for in the glossary (see Box 1)], heart defects, choanal atresia, growth research into disease diagnosis and prevention. Established and retardation, genitourinary malformation and ear abnormalities new genetic strategies in Drosophila have yielded numerous (Hsu et al., 2014), and velocardiofacial or Shprinstzens syndrome substantial successes in modeling congenital disorders or inborn manifesting cardiac anomaly, velopharyngeal insufficiency, errors of human development, as well as neurodegenerative disease aberrant calcium metabolism and immune dysfunction (Chinnadurai and cancer. Moreover, although our ability to generate sequence and Goudy, 2012)}. Estimates suggest that the cause of at least 50% of datasets continues to outpace our ability to analyze these datasets, congenital abnormalities remains unknown (Lobo and Zhaurova, the development of high-throughput analysis platforms in Drosophila 2008). It is vital that we understand the etiology of congenital has provided access through the bottleneck in the identification of anomalies because this knowledge provides a foundation for improved disease gene candidates. In this Review, we describe both the diagnostics as well as the design of preventatives and therapeutics that traditional and newer methods that are facilitating the incorporation of can effectively alleviate or abolish the effects of disease. -
Medical Genetics and Genomic Medicine in the United States of America
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by George Washington University: Health Sciences Research Commons (HSRC) Himmelfarb Health Sciences Library, The George Washington University Health Sciences Research Commons Pediatrics Faculty Publications Pediatrics 7-1-2017 Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease. Carlos R Ferreira George Washington University Debra S Regier George Washington University Donald W Hadley P Suzanne Hart Maximilian Muenke Follow this and additional works at: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs Part of the Genetics and Genomics Commons APA Citation Ferreira, C., Regier, D., Hadley, D., Hart, P., & Muenke, M. (2017). Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.. Molecular Genetics and Genomic Medicine, 5 (4). http://dx.doi.org/10.1002/mgg3.318 This Journal Article is brought to you for free and open access by the Pediatrics at Health Sciences Research Commons. It has been accepted for inclusion in Pediatrics Faculty Publications by an authorized administrator of Health Sciences Research Commons. For more information, please contact [email protected]. GENETICS AND GENOMIC MEDICINE AROUND THE WORLD Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease Carlos R. Ferreira1,2 , Debra S. Regier2, Donald W. Hadley1, P. Suzanne Hart1 & Maximilian Muenke1 1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 2Rare Disease Institute, Children’s National Health System, Washington, District of Columbia Correspondence Carlos R. -
Part II Thoracic Spine
Open Access Review Article DOI: 10.7759/cureus.8684 Anatomical Variations That Can Lead to Spine Surgery at The Wrong Level: Part II Thoracic Spine Manan Shah 1 , Dia R. Halalmeh 2 , Aubin Sandio 1 , R. Shane Tubbs 3, 4, 5 , Marc D. Moisi 2 1. Neurosurgery, Wayne State University, Detroit Medical Center, Detroit, USA 2. Neurosurgery, Detroit Medical Center, Detroit, USA 3. Neurosurgery and Structural & Cellular Biology, Tulane University School of Medicine, New Orleans, USA 4. Anatomical Sciences, St. George's University, St. George's, GRD 5. Neurosurgery and Ochsner Neuroscience Institute, Ochsner Health System, New Orleans, USA Corresponding author: Dia R. Halalmeh, [email protected] Abstract Spine surgery at the wrong level is a detrimental ordeal for both surgeon and patient, and it falls under the wrong-site surgery sentinel events reporting system. While there are several methods designed to limit the incidence of these events, they continue to occur and can result in significant morbidity for the patient and malpractice lawsuits for the surgeon. In thoracic spine, numerous risk factors influence the development of this misadventure. These include anatomical variations such as transitional vertebrae, rib variants, hemivertebra, and block/fused vertebrae as well as patient characteristics, such as tumors, infections, previous thoracic spine surgery, obesity, and osteoporosis. An extensive literature search of the PubMed database up to 2019 was completed on each of the anatomical entities and their influence on developing thoracic spine surgery at the wrong level, taking into consideration patient’s individual factors. A reliable protocol and effective techniques were described to prevent this error. -
Nova Scotia Atlee Perinatal Database Coding Manual 8Th Edition (Version 8.0)
Nova Scotia Atlee Perinatal Database Coding Manual 8th Edition (Version 8.0) April 2001 NOVA SCOTIA ATLEE PERINATAL DATABASE CODING MANUAL TABLE OF CONTENTS (A) ROUTINE INFORMATION LISTING OF HOSPITALS .......................1 DELIVERED ADMISSIONS ......................3 UNDELIVERED ADMISSIONS ..................59 POSTPARTUM ADMISSIONS ...................69 NEONATAL ADMISSIONS .................... 79 ANOMALY ADMISSIONS ......................91 ................................................. (B) CLASSIFICATION OF MATERNAL DISEASES AND PROCEDURES (Blue Section) I. Previous Pregnancy Maternal Diseases.............. 01 II. Present Pregnancy Maternal Diseases............... 02 A. Obstetrical ..............................02 B. Non-Obstetrical..........................07 C. Labour Complications .....................15 D. Non-Delivery Procedures ..................16 E. Analgesia During Labour ...................20 F. Anesthesia During Labour/Delivery ..........22 G. Anesthesia for Non-Delivery Procedures ......24 H. Lacerations ..............................25 I. Postpartum Complications..................26 J. Postpartum Infections .....................29 K. Maternal Therapy.........................31 L. Maternal Death or Undelivered Fetal Death....33 M. Infection in Present Pregnancy .............34 N. Complications of Anesthesia................37 O. Antibiotic Therapy........................39 P. Fetal Procedures..........................40 Q. Methods of Induction ......................41 8th Edition, April 2001, V8.0 Table of Contents and -
Jaw Keratocysts and Sotos Syndrome
International Journal on Oral Health Jaw Keratocysts and Sotos Syndrome Case Report Volume 1 Issue 2- 2021 Author Details Jin Fei Yeo and Philip McLoughlin* Faculty of Dentistry, National University Centre for Oral Health Singapore, Singapore *Corresponding author Philip McLoughlin, Discipline of Oral & Maxillofacial Surgery, Faculty of Dentistry, National University Centre for Oral Health Singapore, 9 Lower Kent Ridge Road, Singapore Article History Received: June 05, 2021 Accepted: June 14, 2021 Published: June 15, 2021 Abstract Sotos syndrome, described by Sotos et al. [1], is characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. The disorder is largely caused by mutations or deletions in the NSD1 gene. The typical facial gestalt includes macrodolichocephaly with frontal bossing, front-parietal sparseness of hair, apparent hypertelorism, down slanting palpebral in his jaw bones, a previously unreported oral manifestation, out with a syndromic context. fissures, and facial flushing. This paper discusses a case of Sotos syndrome in an adolescent male with multiple odontogenic keratocysts Introduction On examination, he was a generally healthy and rather active patient. He was very tall with macrocephaly, large hands and feet, and Sotos syndrome (Cerebral gigantism) is a rare genetic childhood hypertelorism with slightly down-slanted eyes. He also suffered ASD/ overgrowth condition described in 1964 by Sotos et al. [1]. This autism and mild mental hypo development with noticeable speech syndrome is characterized by excessive growth during childhood, impairment. On clinical assessment he was found to have a number of macrocephaly, distinctive facial appearance and learning disability. unerupted teeth, with fluctuant expansion of the maxilla and mandible The disorder is caused by mutations or 5q35 microdeletions in the at those sites. -
Ultrasonographic Screening for Fetal Rib Number Anomalies
Original Article Hong Kong J Gynaecol Obstet Midwifery 2020;20(2):81-7 | https://doi.org/10.12809/hkjgom.20.2.08 Ultrasonographic screening for fetal rib number anomalies Florrie NY YU, MBChB, MRCOG, FHKAM (Obstetrics and Gynaecology) Teresa WL MA, MBBS, FRCOG, FHKAM (Obstetrics and Gynaecology) Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Objective: To determine associations between fetal rib number anomalies detected on ultrasonography and chromosomal anomalies and other structural anomalies, and the outcome of affected pregnancies. Methods: All cases of fetal rib number anomalies referred to the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital between 1 January 2016 and 31 December 2019 were reviewed. Fetal ribs were examined by static three- dimensional multiplanar or volume contrast ultrasonography. Genetic counselling was offered. The prenatal and postnatal records were reviewed. Results: 21 fetuses with rib number anomalies were identified over 4 years. The most common presentation was unilateral or bilateral absence of the 12th thoracic rib (n=12, 57.1%), followed by the presence of lumbar rib (n=6, 28.6%) and the presence of cervical rib (n=3, 14.3%). Three (14.3%) fetuses were identified to have anomalies in other systems: unilateral absence of nasal bone (n=1) and minor vascular anomalies (n=2). One patient with multiple anomalies of the fetus underwent amniocentesis, and the chromosomal microarray analysis was normal. Postnatally, 13 babies had chest radiographs taken. Two were confirmed to have normal number of ribs. Prenatal and postnatal findings were consistent in 6 (46.2%) babies. Conclusion: Fetal rib number anomalies were an isolated finding in most cases. -
Missed Cervical Ribs Alter Pain Management in Thoracic Outlet Syndrome
® Radiology Rounds Missed Cervical Ribs Alter Pain Management in Thoracic Outlet Syndrome By James D. Collins, MD his 47-year-old, right-handed female physical therapist was Radiographic Findings referred by a neurologist for bilateral magnetic resonance T imaging (MRI) of her brachial plexus. The referring neu- rologist indicated the patient developed tingling, numbness, and pain in her right arm with right occipital headache following a whiplash injury she sustained on a roller coaster. Thereafter, she reportedly underwent transaxillary resection of her right first rib for right thoracic outlet syndrome (TOS). After the surgery, the patient suffered persistent pain in her right shoulder and hand, and then 4 months later, she underwent right supraclavicular anterior scalene and middle scalenectomy. Although she received multiple treatments — including Botox in- jections, physical therapy, and myofascial release of the intercostal muscles — she continued to experience pain and numbness in her right arm that interfered with her work. One-and-a-half years later, the patient underwent right pectoralis minor tenotomy and neurolysis of the right brachial plexus, but again without relief. Subsequently, the following chest radiograph and bilateral MRI, magnetic resonance angiography (MRA), and magnetic resonance veinography (MRV) of the brachial plexus were obtained. Figure 1 This posterior-anterior (PA) chest radiograph displays sharp margination of the right sternocleidomastoid muscle (STM) atrophy of the right trapezius muscle (TRP) as compared -
Medical Genetics and Genomic Medicine in the United States of America
Himmelfarb Health Sciences Library, The George Washington University Health Sciences Research Commons Pediatrics Faculty Publications Pediatrics 7-1-2017 Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease. Carlos R Ferreira George Washington University Debra S Regier George Washington University Donald W Hadley P Suzanne Hart Maximilian Muenke Follow this and additional works at: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs Part of the Genetics and Genomics Commons APA Citation Ferreira, C., Regier, D., Hadley, D., Hart, P., & Muenke, M. (2017). Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.. Molecular Genetics and Genomic Medicine, 5 (4). http://dx.doi.org/10.1002/mgg3.318 This Journal Article is brought to you for free and open access by the Pediatrics at Health Sciences Research Commons. It has been accepted for inclusion in Pediatrics Faculty Publications by an authorized administrator of Health Sciences Research Commons. For more information, please contact [email protected]. GENETICS AND GENOMIC MEDICINE AROUND THE WORLD Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease Carlos R. Ferreira1,2 , Debra S. Regier2, Donald W. Hadley1, P. Suzanne Hart1 & Maximilian Muenke1 1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 2Rare Disease Institute, Children’s National Health System, Washington, District of Columbia Correspondence Carlos R. Ferreira, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 10C103, Bethesda, Maryland 20892-1851. -
A Study of Sacralisation of Fifth Lumbar Vertebrae in Saurashtra Region
International Journal of Health Sciences and Research www.ijhsr.org ISSN: 2249-9571 Original Research Article A Study of Sacralisation of Fifth Lumbar Vertebrae in Saurashtra Region Zaveri KK1*, Talsaniya D1*, Singel TC2**, Patel MM2* 1Tutor, 2Professor and Head, *M.P.Shah Government Medical College, Jamnagar, Gujarat. **B.J. Medical College, Ahmedabad, Gujarat. Corresponding Author: Dhaval Talsaniya Received: 25/06/2015 Revised: 15/07/2015 Accepted: 17/07/2015 ABSTRACT The present study was done to study the Incidence of sacralisation of fifth lumbar vertebrae in Saurashtra region. In modern life backache is common complaint. One of the causes is Sacralisation of lumbar vertebra. Sacralisation means addition of sacral elements by the incorporation of fifth lumbar vertebra. In Sacralisation of fifth lumbar vertebra, the transverse process of fifth lumbar vertebra (L5) becomes larger than normal on one or both sides, and fuses to the sacrum, or ilium and or both. In the present study 96 dry human sacra of Saurashtra region, 68 male & 28 female were studied. It was found that typical sacrum consisting of five segments in 85 (88.5%) specimens, while sacralisation of fifth lumbar vertebrae was seen in 11 (11.5%) sacra. Out of 11 cases 8(11.7%) were of male and 3 (10.7%) were of female sacra. Sacralisation of fifth lumbar vertebrae is well-known anomaly of Lumbosacral spine and is associated with low backache, disc herniation and with cervical rib. So, Knowledge of Sacralisation is not only useful for the orthopaedic surgeons, but also vital for the clinical anatomist, radiologists, forensic experts and morphologists.