Gamuts in Radiology
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IJV Phlebectasia: an Approach Algorithm
International Surgery Journal Rao KN et al. Int Surg J. 2017 Oct;4(10):3570-3572 http://www.ijsurgery.com pISSN 2349-3305 | eISSN 2349-2902 DOI: http://dx.doi.org/10.18203/2349-2902.isj20174543 Case Report IJV Phlebectasia: an approach algorithm Karthik N. Rao*, Shrinivas S. Chavan, Vitthal D. Kale, Amol Hekare, Archana Sylendran, Abhishek Khond Department of Otolaryngology and Head Neck Surgery, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India Received: 15 August 2017 Accepted: 07 September 2017 *Correspondence: Dr. Karthik N. Rao, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Internal jugular venous (IJV) Phlebectasia are rare disorders. It is generally diagnosed at an early age, usually unidentified or misdiagnosed or ignored because of the scarcity of the knowledge on the disorder. We encountered a case of 7-year-old child with a right sided intermittent neck swelling which mimicked as an external laryngocele. But, the diagnosis of IJV Phlebectasia was made on “dynamic” ultrasound (USG) doppler study. Cervical adenopathy, mediastinal masses, tuberculosis and certain syndromes of connective tissue disorders were ruled out. The child was managed conservatively with parents and the child being educated about disorder. Keywords: IJV, Phlebectasia INTRODUCTION compressible, more pronounced on Valsalva manoeuvre (Figure 1). Internal Jugular vein Phlebectasia is one of the rare clinical entities, more commonly encountered during childhood.1 The knowledge regarding this unusual clinical disorder is sparse amongst the medical fraternity. -
Internal Jugular Phlebectasia: Diagnosis by Ultrasonography, Doppler and Contrast CT
Case Report DOI: 10.7860/JCDR/2013/5578.3085 Internal Jugular Phlebectasia: Diagnosis ection S by Ultrasonography, Doppler and adiology R Contrast CT MANASH KUMAR BORA ABSTRACT mass. Its treatment is controversial. Presently, a conservative Jugular phlebectasia is an isolated saccular or fusiform dilation of approach to unilateral or bilateral asymptomatic phlebectasia is a vein without tortuosity. Its aetiology remains controversial. It is recommended. Symptomatic phlebectasia requires surgery. The infradiagnosed, as it is generally asymptomatic. However, it has diagnosis is suggested by clinical features which can be confirmed been increasingly recognized in recent years due to the better by noninvasive radiology. This paper is reporting a case of unilateral imaging techniques which are available. Phlebectasia of the right internal jugular phlebectasia in a 12 year old female patient who Internal Jugular Vein (IJV) is a rare disease. It is mostly unilateral complained of an intermittent, right sided neck swelling, where we and it involves only the right side. It is usually a childhood disease used UltraSonoGraphy(USG) with Doppler and Contrast enhanced which is diagnosed during the study of an intermittent neck CT(CECT) to evaluate the lesion. Key Words: Phlebectasia, Internal jugular vein, Contrast enhanced CT, USG Doppler INTRODUCTION Phlebectasia is the abnormal sacculofusiform dilatation (without tortuosity) [1] of a vein, which may affect any vein [2]. Its aetiology remains unknown [3] and it is seen usually in the paediatric age -
Genetics of Congenital Hand Anomalies
G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights. -
Orphanet Journal of Rare Diseases Biomed Central
Orphanet Journal of Rare Diseases BioMed Central Review Open Access Brachydactyly Samia A Temtamy* and Mona S Aglan Address: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre (NRC), El-Buhouth St., Dokki, 12311, Cairo, Egypt Email: Samia A Temtamy* - [email protected]; Mona S Aglan - [email protected] * Corresponding author Published: 13 June 2008 Received: 4 April 2008 Accepted: 13 June 2008 Orphanet Journal of Rare Diseases 2008, 3:15 doi:10.1186/1750-1172-3-15 This article is available from: http://www.ojrd.com/content/3/1/15 © 2008 Temtamy and Aglan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. -
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. -
Primary Tracheal Squamous Cell Carcinoma - Presenting with Circumferential Invasion and Treated with Photodynamic Therapy
218 Primary Tracheal Squamous Cell Carcinoma - Presenting with Circumferential Invasion and Treated with Photodynamic Therapy Lih-Yu Chang*, Sheng-Kai Liang**, Chia-Lin Hsu*, Jang-Ming Lee***, Chong-Jen Yu* Primary neoplasms of the trachea are extremely rare. The diagnosis usually depends on computed tomography (CT) scan. We report a 50-year-old woman who suffered from chronic productive cough for 1 year. Roentgenograms and chest CT showed no abnormal finding. Bronchoscopy showed diffuse circumferential papilloma-like lesions at the trachea. Endobronchial ultrasound showed submucosal invasion of the trachea. The pathology of the endotracheal biopsy showed squamous cell carcinoma. She received photodynamic therapy as first-line treatment with a good response and tumor regression. (Thorac Med 2014; 29: 218-223) Key words: squamous cell carcinoma, tracheal tumor, bronchoscopy, endobronchial ultrasound, photodynamic therapy Introduction agnosis of tracheal tumor and evaluation of the relationship between the surrounding tissue and Primary tracheal tumors are rare, and are organs [1]. Pulmonary function test may show usually malignant in adults (80-90%) and be- fixed upper airway obstruction [1]. Bronchos- nign in children (60-70%) [1-2]. Clinical pre- copy is used for tissue sampling and assessment sentations include dyspnea (58%), cough (54%), of the location and extent of the disease [1]. hemoptysis (45%), wheezing (36%) and stri- In previous reports, tracheal tumor almost dor (24%) [3]. Diagnosis is often delayed for always presented with a protruding mass and months due to initial misdiagnosis as asthma, could be easy diagnosed by chest CT. We pres- chronic obstructive airway disease, or chronic ent a case of primary tracheal squamous cell bronchitis. -
Everything Within Reach! Myoelectric-Controlled Arm Prostheses
Everything within Reach! Myoelectric-controlled Arm Prostheses Information for user Table of Contents Myoelectric-controlled Arm Prostheses ������������������������������������������ 4 Cable-controlled Arm Prostheses ����������������������������������������������������� 6 Passive Arm Prostheses ����������������������������������������������������������������������� 8 Technology for People ���������������������������������������������������������������������������� 9 Prosthetic Fitting ����������������������������������������������������������������������������������� 10 System Electric Hands ����������������������������������������������������������������������� 12 SensorHand Speed ����������������������������������������������������������������������������� 14 System Electric Greifers �������������������������������������������������������������������� 16 Individual Combination and Adaptation ����������������������������������������� 18 Upper Arm Prostheses – DynamicArm ������������������������������������������� 20 Making Exploration Fun ��������������������������������������������������������������������� 24 Children’s Hand 2000 ������������������������������������������������������������������������� 26 Post-operative Therapy ����������������������������������������������������������������������� 28 Residual Limb Pain and Phantom Pain ������������������������������������������ 30 The Socket Decides ���������������������������������������������������������������������������� 32 Pay Attention to Yourself! ������������������������������������������������������������������� -
Psykisk Utviklingshemming Og Forsinket Utvikling
Psykisk utviklingshemming og forsinket utvikling Genpanel, versjon v03 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere. Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AARS 20 NM_001605.2 100% Charcot-Marie-Tooth disease, axonal, type 2N OMIM Epileptic encephalopathy, early infantile, 29 OMIM AASS 17366 NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCB11 42 NM_003742.2 100% Cholestasis, benign recurrent intrahepatic, 2 OMIM Cholestasis, progressive familial intrahepatic 2 OMIM ABCB7 48 NM_004299.5 100% Anemia, sideroblastic, with ataxia OMIM ABCC6 57 NM_001171.5 93% Arterial calcification, generalized, of infancy, 2 OMIM Pseudoxanthoma elasticum OMIM Pseudoxanthoma elasticum, forme fruste OMIM ABCC9 60 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 61 NM_000033.3 77% Adrenoleukodystrophy OMIM Adrenomyeloneuropathy, adult OMIM ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 21396 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 21497 NM_014049.4 99% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL 92 NM_000018.3 100% VLCAD -
Table of Contents
Table of contents Acknowledgements I List of Figures III List of Tables XI List of Abbreviations XIV Summary XVI Part 1 Primary microcephaly 1 INTRODUCTION 1 1.1 Primary microcephaly (MCPH) 2 1.2 Structure of cerebral cortex 5 1.3 Development of cerebral cortex 7 1.4 Clinical features of primary microcephaly 8 1.5 MCPH genes and their function 10 1.5.1 Microcephalin (MCPH1) 10 1.5.2 Abnormal spindle like microcephaly associated (ASPM) 11 1.5.3 Cyclin dependent kinase5 regulatory associated protein (CDK5RAP2) 12 1.5.4 Centrosomal protein J (CENPJ) 13 1.5.5 STIL (SCL/TAL1 interrupting locus) 13 1.6 Objectives of study 16 2 MATERIALS AND METHODS 17 2.1 Families studied 17 2.1.1 MCP3 18 2.1. 2 MCP6 19 2.1.3 MCP7 20 2.1.4 MCP9 21 2.1.5 MCP11 22 2.1.6 MCP15 23 2.1. 7 MCP17 24 2.1.8 MCP18 25 2.1.9 MCP21 26 2.1.10 MCP22 27 2.1.11 MCP35 28 2.1.12 MCP36 29 2.2 Clinical data 29 2.3 Blood sampling 32 2.4 DNA extraction 33 2.5 Polymerase chain reaction 33 2.6 Agarose gel electrophoresis 33 2.7 Genotyping using fluorescently labeled primers 34 2.8 Preparation of samples for ABI 3130xl genetic analyzer 35 2.9 Linkage analysis 35 2.10 Mutation screening 36 2.10.1 DNA sequencing 36 2.10.2 Purification of PCR product from agarose gel 37 2.10.3 Purification of PCR product 37 2.10.4 Sequencing PCR reactions 37 2.10.5 Precipitation of sequencing PCR products 38 2.10.6 Sequencing data analysis 38 2.11 Restriction analysis 39 3 RESULTS 51 3.1 Linkage studies 51 3.2 Mutation analysis 52 3.2.1 Sequencing of ASPM in MCPH5 linked families 52 3.2.2 Compound heterozygous -
Bilateral Internal Jugular Vein Ectasia: a Report of Two Cases
The Journal of Laryngology and Otology March 1994, Vol. 108, pp. 256-260 Bilateral internal jugular vein ectasia: a report of two cases B. S. GENDEH, M.S.*, M. K. DHILLON, M.S.f, M. HAMZAH, M.S.* Abstract Internal jugular vein ectasia is a venous anomaly commonly presenting as a unilateral neck swelling in children and adults. Literature reports of bilateral presentation are rare. Bilateral Doppler ultrasonography is the diagnostic investigation of choice. The possible pathology, aetiology and management are discussed. Conservative management of bilateral cases is recommended in uncomplicated cases. Key words: Jugular veins, internal, Ultrasonography Introduction clavicle with a mean enlargement measuring 5.4 mm which Internal jugular vein ectasia was first described by Harris (1928). It is a rare condition in which there is a fusiform or saccular dila- tation of the internal jugular vein. Only two cases of bilateral neck swelling has been reported (Leung et al., 1983; Walsh etal., 1992) whereas 32 cases of unilateral swellings have been reported under a variety of names including venous cyst, venous aneurysm, venectasia, venous ectasia, aneurysmal varix and venoma. Case reports Case 1 A healthy four-year-old Chinese boy presented with a two- month history of painless recurrent bilateral neck swelling which was noticeable on exertion (Figure 1). There was no history of dysphagia or previous neck trauma. Examination during Val- salva manoeuvre revealed a soft, nontender bilateral mass in the lower anterior triangle of the neck which disappeared at rest. A venous hum was not detectable on auscultation. The transillum- ination test was negative. Ultrasonography of the neck revealed a nontortuous dilatation of the distal segment of the right and left jugular vein with mean enlargement measurements of 5.2 and 4.8 mm respectively on Valsalva manoeuvre (Figure 2). -
Clinical Efficacy of Treatment for Primary Tracheal Tumors by Flexible Bronchoscopy: Airway Stenosis Recanalization and Quality of Life
EXPERIMENTAL AND THERAPEUTIC MEDICINE 20: 2099-2105, 2020 Clinical efficacy of treatment for primary tracheal tumors by flexible bronchoscopy: Airway stenosis recanalization and quality of life ZE‑RUI HAO1,2, ZHOU‑HONG YAO1, JING‑QUAN ZHAO3, DE-ZHI LI1, YUN‑YAN WAN1, YAN‑MENG KANG4 and DIAN‑JIE LIN1 1Department of Respiratory Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021; 2Department of Respiratory Medicine, The Second People's Hospital of Liaocheng Affiliated to Taishan Medical College, Linqing, Shandong 252601; 3Department of Respiratory Medicine, Beijing Tsinghua Changgung Hospital, Beijing 102218; 4Department of Respiratory Medicine, Qianfo Mountain Hospital, School of Medicine, Shandong University, Jinan, Shandong 250014, P.R. China Received April 10, 2019; Accepted January 6, 2020 DOI: 10.3892/etm.2020.8900 Abstract. The aim of the present study was to evaluate the rate of primary tracheal tumors is approximately one case effectiveness of interventional treatment of primary tracheal per million. Of all tracheal tumors, the rate of malignancy is tumors through flexible bronchoscopy. The clinical data of ~90% in adults and ~30% in children. Tracheal malignancies 38 patients with primary tracheal tumours who underwent account for ~0.2% of all respiratory‑tract cancers and <0.05% flexible bronchoscopy intervention therapy between January of all malignancies (1‑4). Treatments of common tracheal 2011 and January 2017 were retrospectively analyzed. The tumors include surgical resection, radiotherapy and chemo- average time interval from onset of symptoms to the appear- therapy. Surgery has been considered the treatment of choice ance of actual clinical manifestations in the 38 patients ranged for a long time (5). -
A CLINICAL STUDY of 25 CASES of CONGENITAL KEY WORDS: Ectromelia, Hemimelia, Dysmelia, Axial, Inter- LIMB DEFICIENCIES Calary
PARIPEX - INDIAN JOURNAL OF RESEARCH Volume-7 | Issue-1 | January-2018 | PRINT ISSN No 2250-1991 ORIGINAL RESEARCH PAPER Medical Science A CLINICAL STUDY OF 25 CASES OF CONGENITAL KEY WORDS: Ectromelia, Hemimelia, Dysmelia, Axial, Inter- LIMB DEFICIENCIES calary M.B.B.S., D.N.B (PMR), M.N.A.M.S Medical officer, D.P.M.R., K.G Medical Dr Abhiman Singh University Lucknow (UP) An Investigation of 25 patients from congenital limb deficient patients who went to D. P. M. R. , K.G Medical University Lucknow starting with 2010 with 2017. This study represents the congenital limb deficient insufficient number of the India. Commonest deficiencies were Adactylia Also mid Ectromelia (below knee/ below elbow deficiency).Below knee might have been basic in male same time The following elbow for female Youngsters. No conclusive reason for the deformity might be isolated, however, A large number guardians accepted that possible exposure to the eclipse throughout pregnancy might have been those reason for ABSTRACT those deficiency. INTRODUCTION Previous Treatment Only 15 patients had taken some D. P. M. R., K.G Medical University Lucknow (UP) may be a greatest treatment, 5 underwent some surgical treatment and only 4 Also its identity or sort of Rehabilitation Centre in India. Thusly the patients used prosthesis. This indicates the ignorance or lack of limb deficient children attending this department can easily be facilities to deal with the limb deficient children. accepted as a representative sample of the total congenital limb deficiency population in the India. DEFICIENCIES The deficiencies are classified into three categories:- MATERIAL AND METHODS This study incorporates 25 patients congenital limb deficiency for 1) Axial Dysmelia where medial or lateral portion is missing lack who originated for medicine at D.