The Effect of a Spina Bifida-Defect at the Lumbosacral Junction on Spinopelvic Alignments
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Spinal Deformity Study Group
Spinal Deformity Study Group Editors in Chief Radiographic Michael F. O’Brien, MD Timothy R. Kuklo, MD Kathy M. Blanke, RN Measurement Lawrence G. Lenke, MD Manual B T2 T5 T2–T12 CSVL T5–T12 +X° -X +X° C7PL T12 L2 A S1 ©2008 Medtronic Sofamor Danek USA, Inc. – 0 + Radiographic Measurement Manual Editors in Chief Michael F. O’Brien, MD Timothy R. Kuklo, MD Kathy M. Blanke, RN Lawrence G. Lenke, MD Section Editors Keith H. Bridwell, MD Kathy M. Blanke, RN Christopher L. Hamill, MD William C. Horton, MD Timothy R. Kuklo, MD Hubert B. Labelle, MD Lawrence G. Lenke, MD Michael F. O’Brien, MD David W. Polly Jr, MD B. Stephens Richards III, MD Pierre Roussouly, MD James O. Sanders, MD ©2008 Medtronic Sofamor Danek USA, Inc. Acknowledgements Radiographic Measurement Manual The radiographic measurement manual has been developed to present standardized techniques for radiographic measurement. In addition, this manual will serve as a complimentary guide for the Spinal Deformity Study Group’s radiographic measurement software. Special thanks to the following members of the Spinal Deformity Study Group in the development of this manual. Sigurd Berven, MD Hubert B. Labelle, MD Randal Betz, MD Lawrence G. Lenke, MD Fabien D. Bitan, MD Thomas G. Lowe, MD John T. Braun, MD John P. Lubicky, MD Keith H. Bridwell, MD Steven M. Mardjetko, MD Courtney W. Brown, MD Richard E. McCarthy, MD Daniel H. Chopin, MD Andrew A. Merola, MD Edgar G. Dawson, MD Michael Neuwirth, MD Christopher DeWald, MD Peter O. Newton, MD Mohammad Diab, MD Michael F. -
Lordosis, Kyphosis, and Scoliosis
SPINAL CURVATURES: LORDOSIS, KYPHOSIS, AND SCOLIOSIS The human spine normally curves to aid in stability or balance and to assist in absorbing shock during movement. These gentle curves can be seen from the side or lateral view of the spine. When viewed from the back, the spine should run straight down the middle of the back. When there are abnormalities or changes in the natural spinal curvature, these abnormalities are named with the following conditions and include the following symptoms. LORDOSIS Some lordosis is normal in the lower portion or, lumbar section, of the human spine. A decreased or exaggerated amount of lordosis that is causing spinal instability is a condition that may affect some patients. Symptoms of Lordosis include: ● Appearance of sway back where the lower back region has a pronounced curve and looks hollow with a pronounced buttock area ● Difficulty with movement in certain directions ● Low back pain KYPHOSIS This condition is diagnosed when the patient has a rounded upper back and the spine is bent over or curved more than 50 degrees. Symptoms of Kyphosis include: ● Curved or hunched upper back ● Patient’s head that leans forward ● May have upper back pain ● Experiences upper back discomfort after movement or exercise SCOLIOSIS The most common of the three curvatures. This condition is diagnosed when the spine looks like a “s” or “c” from the back. The spine is not straight up and down but has a curve or two running side-to-side. Sagittal Balance Definition • Sagittal= front-to-back direction (sagittal plane) • Imbalance= Lack of harmony or balance Etiology • Excessive lordosis (backwards lean) or kyphosis (forward lean) • Traumatic injury • Previous spinal fusion that disrupted sagittal balance Effects • Low back pain • Difficulty walking • Inability to look straight ahead when upright The most ergonomic and natural posture is to maintain neutral balance, with the head positioned over the shoulders and pelvis. -
The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways
The genetic heterogeneity of brachydactyly type A1: Identifying the molecular pathways Lemuel Jean Racacho Thesis submitted to the Faculty of Graduate Studies and Postdoctoral Studies in partial fulfillment of the requirements for the Doctorate in Philosophy degree in Biochemistry Specialization in Human and Molecular Genetics Department of Biochemistry, Microbiology and Immunology Faculty of Medicine University of Ottawa © Lemuel Jean Racacho, Ottawa, Canada, 2015 Abstract Brachydactyly type A1 (BDA1) is a rare autosomal dominant trait characterized by the shortening of the middle phalanges of digits 2-5 and of the proximal phalange of digit 1 in both hands and feet. Many of the brachymesophalangies including BDA1 have been associated with genetic perturbations along the BMP-SMAD signaling pathway. The goal of this thesis is to identify the molecular pathways that are associated with the BDA1 phenotype through the genetic assessment of BDA1-affected families. We identified four missense mutations that are clustered with other reported BDA1 mutations in the central region of the N-terminal signaling peptide of IHH. We also identified a missense mutation in GDF5 cosegregating with a semi-dominant form of BDA1. In two families we reported two novel BDA1-associated sequence variants in BMPR1B, the gene which codes for the receptor of GDF5. In 2002, we reported a BDA1 trait linked to chromosome 5p13.3 in a Canadian kindred (BDA1B; MIM %607004) but we did not discover a BDA1-causal variant in any of the protein coding genes within the 2.8 Mb critical region. To provide a higher sensitivity of detection, we performed a targeted enrichment of the BDA1B locus followed by high-throughput sequencing. -
Pushing the Limits of Prenatal Ultrasound: a Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3Q Duplication
reproductive medicine Case Report Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication Olivier Leroij 1, Lennart Van der Veeken 2,*, Bettina Blaumeiser 3 and Katrien Janssens 3 1 Faculty of Medicine, University of Antwerp, 2610 Wilrijk, Belgium; [email protected] 2 Department of Obstetrics and Gynaecology, University Hospital Antwerp, 2650 Edegem, Belgium 3 Department of Medical Genetics, University Hospital and University of Antwerp, 2650 Edegem, Belgium; [email protected] (B.B.); [email protected] (K.J.) * Correspondence: [email protected] Abstract: We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed. Citation: Leroij, O.; Van der Veeken, Keywords: dorsal dermal sinus; Arnold–Chiari anomaly; 3q23q27 duplication; mosaic; marker chro- L.; Blaumeiser, B.; Janssens, K. mosome Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q 1. -
Osteodystrophy-Like Syndrome Localized to 2Q37
Am. J. Hum. Genet. 56:400-407, 1995 Brachydactyly and Mental Retardation: An Albright Hereditary Osteodystrophy-like Syndrome Localized to 2q37 L. C. Wilson,"7 K. Leverton,3 M. E. M. Oude Luttikhuis,' C. A. Oley,4 J. Flint,5 J. Wolstenholme,4 D. P. Duckett,2 M. A. Barrow,2 J. V. Leonard,6 A. P. Read,3 and R. C. Trembath' 'Departments of Genetics and Medicine, University of Leicester, and 2Leicestershire Genetics Centre, Leicester Royal Infirmary, Leicester, 3Department of Medical Genetics, St Mary's Hospital, Manchester. 4Department of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne; 5MRC Molecular Haematology Unit, Institute of Molecular Medicine, Oxford; and 6Medical Unit and 7Mothercare Unit for Clinical Genetics and Fetal Medicine, Institute of Child Health, London Summary The physical feature brachymetaphalangia refers to shortening of either the metacarpals and phalanges of the We report five patients with a combination ofbrachymeta- hands or of the equivalent bones in the feet. The combina- phalangia and mental retardation, similar to that observed tion of brachymetaphalangia and mental retardation occurs in Albright hereditary osteodystrophy (AHO). Four pa- in Albright hereditary osteodystrophy (AHO) (Albright et tients had cytogenetically visible de novo deletions of chro- al. 1942), a dysmorphic syndrome that is also associated mosome 2q37. The fifth patient was cytogenetically nor- with cutaneous ossification (in si60% of cases [reviewed by mal and had normal bioactivity of the a subunit of Gs Fitch 1982]); round face; and short, stocky build. Affected (Gsa), the protein that is defective in AHO. In this patient, individuals with AHO may have either pseudohypopara- we have used a combination of highly polymorphic molec- thyroidism (PHP), with end organ resistance to parathyroid ular markers and FISH to demonstrate a microdeletion at hormone (PTH) and certain other cAMP-dependent hor- 2q37. -
Failure to Maintain Segmental Lordosis During TLIF for One-Level
European Spine Journal (2019) 28:745–750 https://doi.org/10.1007/s00586-019-05890-w ORIGINAL ARTICLE Failure to maintain segmental lordosis during TLIF for one‑level degenerative spondylolisthesis negatively afects clinical outcome 5 years postoperatively: a prospective cohort of 57 patients Matevž Kuhta1 · Klemen Bošnjak2 · Rok Vengust2 Received: 14 June 2018 / Revised: 28 November 2018 / Accepted: 13 January 2019 / Published online: 24 January 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019 Abstract Purpose The present study aimed to determine whether obtaining adequate lumbar (LL) or segmental (SL) lordosis during instrumented TLIF for one-level degenerative spondylolisthesis afects midterm clinical outcome. Methods The study was designed as a prospective one, including 57 patients who underwent single-level TLIF surgery for degenerative spondylolisthesis. Patients were analyzed globally with additional subgroup analysis according to pelvic incidence (PI). Radiographic analysis of spinopelvic sagittal parameters was conducted pre- and postoperatively. Clinical examination including ODI score was performed preoperatively, 1 and 5 years postoperatively. Results Signifcant improvement in ODI scores at 1 and 5 years postoperatively (p < 0.001) was demonstrated. There was a signifcant correlation between anterior shift of SVA and failure to improve SL (p = 0.046). Moreover, anterior SVA shift correlated with increased values of ODI score both 1 and 5 years postoperatively. In low-PI group, failure to correct LL correlated with high ODI scores 5 years postoperatively (r = − 0.499, p = 0.005). Conclusions Failure to correct segmental lordosis during surgery for one-level degenerative spondylolisthesis resulted in anterior displacement of the center of gravity, which in turn correlated with unfavorable clinical outcome 1 and 5 years postoperatively. -
Autosomal Recessive Klippel-Feil Syndrome
J Med Genet: first published as 10.1136/jmg.19.2.130 on 1 April 1982. Downloaded from Journal ofMedical Genetics, 1982, 19, 130-134 Autosomal recessive Klippel-Feil syndrome ELIAS OLIVEIRA DA SILVA From the Departamento de Biologia Geral, SecCdo de Genetica, Universidade Federal de Pernambuco, and Instituto Materno-Infantil de Pernambuco (IMIP), Recife, Brazil SUMMARY An inbred kindred with 12 cases of Klippel-Feil syndrome (seven females and five males) is reported. Inheritance is undoubtedly autosomal recessive. The main characteristic of the syndrome is fusion of cervical vertebrae. In 1912, Klippel and Feill reported the first clinical Methods details and necropsy findings of a syndrome char- acterised by the triad short or absent neck, severe A total of 59 members of the family, including all limitation of head movement, and low posterior living affected persons (11), were clinically examined hairline. An Egyptian mummy (from 500 BC) is the and radiological studies were performed in eight oldest subject in whom Klippel-Feil syndrome has patients. The other three refused to submit to been seen.2 Another interesting observation is the x-ray examination. The patients ranged in age from similarity between the figure of an old man depicted 9 to 59 years. by the English painter William Blake (1757-1827) The genealogical data was collected with the co- and the appearance of persons with Klippel-Feil operation of people in four generations and, in case syndrome.3 The incidence of the syndrome is of doubtful information, it was checked with estimated at about 1 in 42 000 births.4 Some authors different members of the family. -
Cleidocranial Dysplasia with Spina Bifida: Case Report [I] Displasia Cleido-Craniana Com Espinha Bífida: Relato De Caso
ISSN 1807-5274 Rev. Clín. Pesq. Odontol., Curitiba, v. 6, n. 2, p. 179-184, maio/ago. 2010 Licenciado sob uma Licença Creative Commons [T] CleidoCranial dysplasia with spina bifida: case report [I] Displasia cleido-craniana com espinha bífida: relato de caso [A] Mubeen Khan[a], rai puja[b] [a] Professor and head of Department of Oral Medicine and Radiology Government Dental College and Research Institute, Bangalore - India. [b] Postgraduate student, Department of Oral Medicine and Radiology, Government Dental College and Research Institute, Bangalore - India, e-mail: [email protected] [R] abstract oBJeCtiVe: To present and discuss a case of a rare disease in a 35 year old otherwise healthy male Indian in origin reported to the Department of Oral Medicine and Radiology of the Dental College and Research Institute, Bangalore, India. disCUssion: The cleidocranial dysplasia is a rare disease which can occur either spontaneously (40%) or by an autosomal dominant inheritance. The dentists are, most of the times, the first professionals who patients look for to solve their problem, since there is a delay in the eruption and /or absence of permanent teeth. In the present case multiple missing teeth was the reason for patient’s visit to odontologist. ConClUsion: An early diagnosis allows proper orientation for the treatment, offering a better life quality for the patient. [P] Keywords: Cleidocranial dysplasia. Aplastic clavicles. Delayed eruption. Supernumerary teeth. Spina bifida. [B] Resumo OBJETIVO: Apresentar e discutir um caso de doença rara em paciente masculino, de 35 anos de idade, sadio, de modo geral, de origem indiana, que foi encaminhado ao Departamento de Medicina Bucal e Radiologia da Escola de Odontologia e Instituto de Pesquisa, Bangalore, Índia. -
Scoliosis in Paraplegia
Paraplegia (1974), II, 290-292 SCOLIOSIS IN PARAPLEGIA By JOHN A. ODOM, JR., M.D. and COURTN EY W. BROWN, M.D. Children's Hospital, Denver, Colorado in conjunction with ROBERT R. JACKSON, M.D., HARRY R. HA HN, M.D. and TERRY V. CARLE, M.D. Craig Rehabilitation Hospital, Englewood, Colorado WITH the increasing instance of excellent medical care, more children with traumatic paraplegia and myelomeningocele with paraplegia live to adulthood. In these two groups of patients there is a high instance of scoliosis, kyphosis and lordosis. Much attention in the past years has been placed on hips and feet but only in the last decade has there been much attention concentrated on the treatment of the spines of these patients. Most of this attention has been toward the patient with a traumatic paraplegia with development of scoliosis. Some attempts have been made at fusing the scoliotic spine of myelomeningo celes by Harrington Instrumentation but with a rather high instance of complica tions and failures. With the event of anterior instrumentation by Dr. Alan Dwyer of Sydney, Australia, the anterior approach to the spine is becoming widely accepted and very successfully used. This is especially valuable in the correction and fusion of the spine with no posterior elements from birth. MATERIAL FOR STUDY Between March of 1971 and June of 1973, there have been 26 paraplegics with scoliosis who have been cared for by the authors. All of these patients have either been myelomeningoceles with paraplegia or spinal cord injuries, all of whom have had scoliosis, kyphosis, or severe lordosis. -
Spina Bifida
A Guide for School Personnel Working With Students With Spina Bifida Developed by The Specialized Health Needs Interagency Collaboration Patty Porter, M.S. Barbara Obst, R.N. Andrew Zabel, Ph.D. In partnership between Kennedy Krieger Institute and the Maryland State Department of Education Division of Special Education/Early Intervention Services December 2009 A Guide for School Personnel Working With Students With Spina Bifida Developed by the Kennedy Krieger Institute in partnership with the Maryland State Department of Education, Division of Special Education/Early Intervention Services December 2009 This document was produced by the Maryland State Department of Education, Division of Special Education/Early Intervention Services through IDEA Part B Grant #H027A0900035A, U.S. Department of Education, Office of Special Education and Rehabilitative Services. The views expressed herein do not necessarily reflect the views of the U.S. Department of Education or any other federal agency and should not be regarded as such. The Division of Special Education/Early Intervention Services receives funding from the Office of Special Education Program, Office of Special Education and Rehabilitative Services, U.S. Department of Education. This document is copyright free. Readers are encouraged to share; however, please credit the MSDE Division of Special Education/Early Intervention Services and Kennedy Krieger Institute. The Maryland State Department of Education does not discriminate on the basis of race, color, sex, age, national origin, religion, disability, or sexual orientation in matters affecting employment or in providing access to programs. For inquiries related to Department policy, contact the Equity Assurance and Compliance Branch, Office of the Deputy State Superintendent for Administration, Maryland State Department of Education, 200 West Baltimore Street, 6th Floor, Baltimore, MD 21201-2595, 410-767-0433, Fax 410-767-0431, TTY/TDD 410-333-6442. -
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 -
Beyond Crayons
THE JEFFRAS’ PROGRAM THAT PROMOTES A HEALTHY SCHOOL ENVIRONMENT FOR STUDENTS WITH SPINA BIFIDA SECTION 504 PLAN Background Plan Objectives & Goals Spina Bifida is the most common permanently Successful integration of a child with Spina Bifida disabling birth defect in the United States. Spina into school sometimes requires changes in school Bifida occurs when the spine of the baby fails to equipment or the curriculum. In adapting the school close. This creates an opening, or lesion, on the setting for the child with Spina Bifida, architectural spinal column. This takes place during the first factors should be considered. Section 504 of the month of pregnancy when the spinal column and Rehabilitation Act of 1973 requires programs that brain, or neural tube, is formed. This happens before receive federal funding to make their facilities most women even know they are pregnant. Because accessible. This can occur through structural of the opening on the spinal column, the nerves in changes (for example, adding elevators or ramps) or the spinal column may be damaged and not work through schedule and location changes (for properly. This results in some degree of paralysis. example, offering a course on the ground floor). The higher the lesion is on the spinal column, the greater the paralysis. Surgery to close the spine is The Student has a recognized disability, Spina Bifida, generally done within hours after birth. Surgery helps that requires the accommodations and modifications to reduce the risk of infection and to protect the set out in this plan to ensure that the student has the spinal cord from greater damage.