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Increased Nuchal Translucency Precision Panel
Increased Nuchal Translucency Precision Panel Overview Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. NT>3.5mm has been found to be associated with fetal chromosomal abnormalities and single-gene disorders as well as cardiac defects and other structural abnormalities in euploid and aneuploid fetuses. Proportionally as NT increases, even with a normal karyotype, there is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. There is not one single cause of increased NT, it is based on a complex and multifactorial process, linked to one or more embryonic processes. It has been shown that a persistently increased NT with a normal karyotype and aCGH has a 4-10% probability of being associated to Noonan Syndrome and/or other RASopathies using Whole Exome Sequencing (WES). However, the general tendency following detection of isolated enlarged NT in an euploid fetus is that most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcomes. The Igenomix Increased Nuchal Translucency Precision Panel can be used to make a directed and accurate prenatal differential diagnosis of increased nuchal translucency in patients with or without a normal karyotype ultimately leading to a better management and prognosis of the associated comorbidities. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. -
Primary Desmoid Tumor of the Small Bowel: a Case Report and Literature Review
Open Access Case Report DOI: 10.7759/cureus.4915 Primary Desmoid Tumor of the Small Bowel: A Case Report and Literature Review Peter A. Ebeling 1 , Tristan Fun 1 , Katherine Beale 1 , Robert Cromer 2 , Jason W. Kempenich 1 1. Surgery, University of Texas Health Science Center at San Antonio, San Antonio, USA 2. Surgery, Keesler U.S. Air Force Medical Center, Biloxi, USA Corresponding author: Peter A. Ebeling, [email protected] Abstract Desmoid tumors, also known as aggressive fibromatosis, are fibromuscular neoplasms that arise from mesenchymal cell lines. They may occur in almost all soft tissue compartments. Primary desmoids of the small bowel are rare but potentially serious tumors presenting unique challenges to the general surgeon. We present one case of a 59-year-old man presenting with three months of abdominal distension secondary to a small bowel desmoid. Computed tomography of the abdomen showed an 18-cm mass in the mid-abdomen without obvious vital structure encasement. Percutaneous biopsy of the mass indicated a desmoid tumor. The patient underwent a successful elective exploratory laparotomy with resection and primary enteric anastomosis. Final pathology revealed the mass to be a primary desmoid of the small bowel. His post- operative course was uneventful. At two years after surgery, he is symptom free, and there is no evidence of disease recurrence. Due to the rare nature of primary small bowel desmoids, there are few specific care pathways outlined. This is a challenging pathology to treat that often requires a multidisciplinary team of surgical and medical oncologists. Categories: General Surgery, Oncology Keywords: desmoid, small bowel, resection, aggressive fibromatosis Introduction Desmoid tumors, also known as aggressive fibromatosis, are fibromuscular neoplasms that arise from mesenchymal cell lines. -
POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia
European Journal of Case Reports in Internal Medicine POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia Joana Alves Vaz1, Lilia Frada2, Maria Manuela Soares1, Alberto Mello e Silva1 1 Department of Internal Medicine, Egas Moniz Hospital, Lisbon, Portugal 2 Department of Gynecology and Obstetrics, Espirito Santo Hospital, Evora, Portugal Doi: 10.12890/2019_001241 - European Journal of Case Reports in Internal Medicine - © EFIM 2019 Received: 28/07/2019 Accepted: 13/11/2019 Published: 16/12/2019 How to cite this article: Alves Vaz J, Frada L, Soares MM, Mello e Silva A. POEMS syndrome: an atypical presentation with chronic diarrhoea and astenia. EJCRIM 2019;7: doi:10.12890/2019_001241. Conflicts of Interests: The Authors declare that there are no competing interest This article is licensed under a Commons Attribution Non-Commercial 4.0 License ABSTRACT POEMS syndrome is a rare paraneoplastic condition associated with polyneuropathy, organomegaly, monoclonal gammopathy, endocrine and skin changes. We report a case of a man with Castleman disease and monoclonal gammopathy, with a history of chronic diarrhoea and asthenia. Gastrointestinal involvement in POEMS syndrome is not frequently referred to in the literature and its physiopathology is not fully understood. Diagnostic criteria were met during hospitalization but considering the patient’s overall health condition, therapeutic options were limited. Current treatment for POEMS syndrome depends on the management of the underlying plasma cell disorder. This report outlines the importance of a thorough review of systems and a physical examination to allow an attempted diagnosis and appropriate treatment. LEARNING POINTS • POEMS syndrome should be suspected in the presence of peripheral polyneuropathy associated with monoclonal gammopathy; diagnostic workup is challenging and delay in treatment is very common. -
Lumps and Bumps of the Abdominal Wall and Lumbar Region—Part 2: Beyond Hernias
Published online: 2019-06-18 THIEME Review Article 19 Lumps and Bumps of the Abdominal Wall and Lumbar Region—Part 2: Beyond Hernias Sangoh Lee1 Catalin V. Ivan1 Sarah R. Hudson1 Tahir Hussain1 Suchi Gaba2 Ratan Verma1 1 1 Arumugam Rajesh James A. Stephenson 1Department of Radiology, University Hospitals of Leicester, Address for correspondence James A. Stephenson, MD, FRCR, Leicester General Hospital, Leicester, United Kingdom Department of Radiology, University Hospitals of Leicester, 2Department of Radiology, University Hospitals of North Midlands, Leicester General Hospital, Leicester, LE5 4PW, United Kingdom Royal Stoke University Hospital, Stoke-on-Trent, United Kingdom (e-mail: [email protected]). J Gastrointestinal Abdominal Radiol ISGAR 2018;1:19–32 Abstract Abdominal masses can often clinically mimic hernias, especially when they are locat- ed close to hernial orifices. Imaging findings can be challenging and nonspecific Keywords with numerous differential diagnoses. We present a variety of pathology involving ► abdominal wall the abdominal wall and lumbar region, which were referred as possible hernias. This ► hernia demonstrates the wide-ranging pathology that can present as abdominal wall lesions ► mimics or mimics of hernias that the radiologist should be alert to. Introduction well-differentiated liposarcomas are histologically identical. The term “atypical lipoma” was coined by Evans et al in 1979 to An abdominal hernia occurs when an organ of a body ca vity describe well-differentiated liposarcoma of subcutaneous and 1 protrudes through a defect in the wall of that cavity. It is a 6 intramuscular layers. The World Health Organization (WHO) common condition with lifetime risk of developing a groin has further refined the definition by using atypical lipoma to hernia being estimated at 27% for men and 3% for women; it has describe subcutaneous lesions only and well- differentiated 2 thus been covered extensively in the literature. -
New Jersey Chapter American College of Physicians
NEW JERSEY CHAPTER AMERICAN COLLEGE OF PHYSICIANS ASSOCIATES ABSTRACT COMPETITION 2015 SUBMISSIONS 2015 Resident/Fellow Abstracts 1 1. ID CATEGORY NAME ADDITIONAL PROGRAM ABSTRACT AUTHORS 2. 295 Clinical Abed, Kareem Viren Vankawala MD Atlanticare Intrapulmonary Arteriovenous Malformation causing Recurrent Cerebral Emboli Vignette FACC; Qi Sun MD Regional Medical Ischemic strokes are mainly due to cardioembolic occlusion of small vessels, as well as large vessel thromboemboli. We describe a Center case of intrapulmonary A-V shunt as the etiology of an acute ischemic event. A 63 year old male with a past history of (Dominik supraventricular tachycardia and recurrent deep vein thrombosis; who has been non-compliant on Rivaroxaban, presents with Zampino) pleuritic chest pain and was found to have a right lower lobe pulmonary embolus. The deep vein thrombosis and pulmonary embolus were not significant enough to warrant ultrasound-enhanced thrombolysis by Ekosonic EndoWave Infusion Catheter System, and the patient was subsequently restarted on Rivaroxaban and discharged. The patient presented five days later with left arm tightness and was found to have multiple areas of punctuate infarction of both cerebellar hemispheres, more confluent within the right frontal lobe. Of note he was compliant at this time with Rivaroxaban. The patient was started on unfractionated heparin drip and subsequently admitted. On admission, his vital signs showed a blood pressure of 138/93, heart rate 65 bpm, and respiratory rate 16. Cardiopulmonary examination revealed regular rate and rhythm, without murmurs, rubs or gallops and his lungs were clear to auscultation. Neurologic examination revealed intact cranial nerves, preserved strength in all extremities, mild dysmetria in the left upper extremity and an NIH score of 1. -
Management of the First-Time Traumatic Anterior Shoulder Dislocation
CONCISE REVIEW CiSE Clinics in Shoulder and Elbow Clinics in Shoulder and Elbow Vol. 21, No. 3, September, 2018 https://doi.org/10.5397/cise.2018.21.3.169 Management of the First-time Traumatic Anterior Shoulder Dislocation Sung Il Wang Department of Orthopaedic Surgery, Chonbuk National University Medical School, Research Insitute for Endocrine Sciences and Research Insitute of Clinical Medicine of Chonbuk National University–Biomedical Research Insitute of Chonbuk National University Hospital, Jeonju, Korea Traumatic anterior dislocation of the shoulder is one of the most common directions of instability following a traumatic event. Although the incidence of shoulder dislocation is similar between young and elderly patients, most studies have traditionally focused on young pa- tients due to relatively high rates of recurrent dislocations in this population. However, shoulder dislocations in older patients also require careful evaluation and treatment selection because they can lead to persistent pain and disability due to rotator cuff tears and nerve injuries. This article provides an overview of the nature and pathology of acute primary anterior shoulder dislocation, widely accepted management modalities, and differences in treatment for young and elderly patients. (Clin Shoulder Elbow 2018;21(3):169-175) Key Words: Glenohumeral joint; Shoulder dislocation; Treatment Introduction the shoulder will invariably be damaged, rendering the joint un- stable. The glenohumeral joint has the greatest range of motion There are controversies over the best treatment for patients among all joints in the human body. To achieve increased with first-time anterior shoulder dislocation. Assessment of risk mobility, joint stability is sacrificed, making shoulder joint sus- factors for recurrence is essential when deciding on the treat- ceptible to dislocation. -
Brain Imaging with MRI and CT: an Image Pattern Approach Edited by Zoran Rumboldt, Mauricio Castillo, Benjamin Huang and Andrea Rossi Index More Information
Cambridge University Press 978-0-521-11944-3 - Brain Imaging with MRI and CT: An Image Pattern Approach Edited by Zoran Rumboldt, Mauricio Castillo, Benjamin Huang and Andrea Rossi Index More information INDEX abnormalities without significant mass effect 241 low-grade (diffuse) 334, 335, 337 cavernous sinus, invasion 85 abscesses 295, 317, 319, 321, 327, 329 pilocytic 129, 356, 357 cavernous sinus asymmetry, normal 101 cerebral abscess 322, 323 pleomorphic xanthoastrocytoma 340, 341 cavernous sinus hemangioma 97, 99, 105, 249, 297, operative site 169, 276, 277 SEGA 221, 305, 307, 309, 351, 353, 403 367, 376, 377 pyogenic abscess 325, 331 asymmetric CSF-containing spaces 299 cavernous sinus meningioma 249 vasogenic edema 65 atherosclerosis 253 cavernous sinus thrombosis, superior ophthalmic acquired intracranial herniations 196, 197 atretic parietal encephalocele 150, 151 vein (SOV) 103 ACTH-producing tumors 81 atypical parkinsonian disorders (APDs) 115 CD1aþ histiocytes 71, 89 acute disseminated encephalomyelitis (ADEM) 29, atypical teratoid–rhabdoid tumor (ATRT) 139 celiac disease 177 230, 231, 237, 257 AVM hemorrhage 73 central nervous system acute hypertensive encephalopathy (PRES) involvement in aggressive lymphoma 279 29, 64, 65 bacterial endocarditis 253 vasculitis 53, 237, 243, 251, 253 Addison disease 61 bacterial meningitis 277 central nervous system lymphoma adenoid cystic carcinoma 249 banana sign 125 primary 17, 29, 245 adrenoleukodystrophy 60, 61 Baraitser–Reardon syndrome 385 secondary 243, 245, 281, 289 protein (ALDP) 61 -
About Soft Tissue Sarcoma Overview and Types
cancer.org | 1.800.227.2345 About Soft Tissue Sarcoma Overview and Types If you've been diagnosed with soft tissue sarcoma or are worried about it, you likely have a lot of questions. Learning some basics is a good place to start. ● What Is a Soft Tissue Sarcoma? Research and Statistics See the latest estimates for new cases of soft tissue sarcoma and deaths in the US and what research is currently being done. ● Key Statistics for Soft Tissue Sarcomas ● What's New in Soft Tissue Sarcoma Research? What Is a Soft Tissue Sarcoma? Cancer starts when cells start to grow out of control. Cells in nearly any part of the body can become cancer and can spread to other areas. To learn more about how cancers start and spread, see What Is Cancer?1 There are many types of soft tissue tumors, and not all of them are cancerous. Many benign tumors are found in soft tissues. The word benign means they're not cancer. These tumors can't spread to other parts of the body. Some soft tissue tumors behave 1 ____________________________________________________________________________________American Cancer Society cancer.org | 1.800.227.2345 in ways between a cancer and a non-cancer. These are called intermediate soft tissue tumors. When the word sarcoma is part of the name of a disease, it means the tumor is malignant (cancer).A sarcoma is a type of cancer that starts in tissues like bone or muscle. Bone and soft tissue sarcomas are the main types of sarcoma. Soft tissue sarcomas can develop in soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. -
Abstracts of Scientific Papers
49th Sao Paulo Radiological Meeting 1st Interventional Radiology Meeting May 2-5, Sao Paulo, Brazil Abstracts of Scientific Papers ORGANIZATION SUPPORT SUMMARY ABDOMINAL / DIGESTIVE TRACT ....................... 4 PHYSICS / QUALITY CONTROL .......................... 36 Original Paper ............................................................... 4 Original Paper ............................................................. 36 Posters (PI) ...................................................................... 4 Digital Presentation (PD) .............................................. 36 Digital Presentation (PD) ................................................ 4 Oral Presentation (TL) .................................................... 5 IT / MANAGEMENT ................................................ 37 Pictorial Essay ............................................................... 6 Original Paper ............................................................. 37 Posters (PI) ...................................................................... 6 Posters (PI) .................................................................... 37 Digital Presentation (PD) ................................................ 7 Digital Presentation (PD) .............................................. 37 Literature Review ....................................................... 12 Oral Presentation (TL) .................................................. 38 Posters (PI) .................................................................... 12 INTERVENTION ...................................................... -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Pituitary Incidentalomas in Paediatric Age Are Different from Those Described in Adulthood
Pituitary (2019) 22:124–128 https://doi.org/10.1007/s11102-019-00940-4 Pituitary incidentalomas in paediatric age are different from those described in adulthood Pedro Souteiro1,2,3 · Rúben Maia4 · Rita Santos‑Silva2,5 · Rita Figueiredo4 · Carla Costa2,5 · Sandra Belo1 · Cíntia Castro‑Correia2,5 · Davide Carvalho1,2,3 · Manuel Fontoura2,5 Published online: 25 January 2019 © Springer Science+Business Media, LLC, part of Springer Nature 2019 Abstract Purpose Guidelines on pituitary incidentalomas evaluation and management are limited to adults since there are no data on this matter in the paediatric population. We aim to analyse the morphologic characteristics, hormonal profile and follow-up of these lesions in children. Methods We have searched for pituitary incidentalomas in the neuroimaging reports and electronic medical records of the Paediatric Endocrinology Clinic of our centre. Patients with 18 years-old or less were included. Results Forty-one incidentalomas were identified, 25 of them (62.4%) in females. The mean age at diagnosis was 12.0 ± 4.96 years-old. Headaches were the main reason that led to image acquisition (51.2%) and MRI was the imaging method that detected the majority of the incidentalomas (70.7%). The most prevalent lesion was pituitary hypertrophy (29.3%), which was mainly diagnosed in female adolescents (91.7%), followed by arachnoid cysts (17.1%), pituitary adenomas (14.6%) and Rathke’s cleft cysts (12.2%). Most patients (90.2%) did not present clinical or laboratorial findings of hypopituitarism or hormonal hypersecretion. Four patients presented endocrine dysfunction: three had growth hormone deficiency and one had a central precocious puberty. -
Aggressive Fibromatosis (Desmoid Tumor) Is Derived from Mesenchymal Progenitor Cells
Published OnlineFirst September 14, 2010; DOI: 10.1158/0008-5472.CAN-10-1656 Published OnlineFirst on September 14, 2010 as 10.1158/0008-5472.CAN-10-1656 Tumor and Stem Cell Biology Cancer Research Aggressive Fibromatosis (Desmoid Tumor) Is Derived from Mesenchymal Progenitor Cells Colleen Wu1, Saied Nik-Amini1, Puviindran Nadesan1, William L. Stanford2, and Benjamin A. Alman1,3 Abstract The cellular origins from which most tumors arise are poorly defined, especially in mesenchymal neoplasms. Aggressive fibromatosis, also known as desmoid tumor, is a locally invasive soft tissue tumor that has mesenchymal characteristics. We found that aggressive fibromatosis tumors express genes and cell surface markers characteristic of mesenchymal stem cells (MSC). In mice that are genetically predisposed to develop wt/1638N aggressive fibromatosis tumors (Apc ), we found that the number of tumors formed was proportional to −/− wt/1638N the number of MSCs present. Sca-1 mice, which develop fewer MSCs, were crossed with Apc mice. Doubly mutant mice deficient in Sca-1 developed substantially fewer aggressive fibromatosis tumors than wild-type (WT) littermates, but Sca-1 deficiency had no effect on the formation of epithelial-derived intestinal wt/1638N polyps. MSCs isolated from Apc mice(ormiceexpressingastabilizedformofβ-catenin) induced aberrant cellular growth reminiscent of aggressive fibromatosis tumors after engraftment to immunocompro- mised mice, but WT cells and mature fibroblasts from the same animals did not. Taken together, our findings indicate that aggressive fibromatosis is derived from MSCs, and that β-catenin supports tumorigenesis by maintaining mesenchymal progenitor cells in a less differentiated state. Protecting this progenitor cell popu- lation might prevent tumor formation in patients harboring a germline APC mutation, where fibromatosis is currently the leading cause of mortality.