UMC Naam Van Expertisecentrum Cluster Van / Specifieke Aandoening(En)
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Dec 2020 Summary Slides
DEC 2020 DIAGNOSIS LIST 20-1201: syphilitic colitis [large bowel; GI path+ID path] 20-1202: metastatic leiomyosarcoma [lung; GYN pathology] 20-1203: large B-cell lymphoma with IRF4 translocation [LN; hematopath] 20-1204: extranodal NK/T cell lymphoma [testis; hematopath] 20-1205: extranodal marginal zone lymphoma [uterus; hematopath] 20-1206: synovial-like metaplasia [uterus; GYN pathology] 20-1207: Russell body cervicitis [uterus; GYN pathology] Disclosures December 7, 2020 Dr. Ankur Sangoi has disclosed a financial relationship with Google (consultant). South Bay Pathology Society has determined that this relationship is not relevant to the planning of the activity or the clinical cases being presented. The following planners and faculty had no financial relationships with commercial interests to disclose: Presenters: Activity Planners/Moderator: Natalie Patel, MD Kristin Jensen, MD Mahendra Ranchod, MD Megan Troxell, MD, PhD Ashley Volaric, MD Yaso Natkunam, MD, PhD Neslihan Kayraklioglu, MD Robert Ohgami, MD, PhD Josh Menke, MD Charles Lombard, MD 20-1201 scanned slide avail! Natalie Patel; El Camino Hospital 58-year-old M, reported h/o IBD/UC. Recently presented with rectal bleeding, stool cultures negative for C.diff. Patient put back on mesalamine and bleeding improved, however continued to have discomfort. Left colon/rectal biopsy performed, rule out CMV. IHCs • Warthin starry: Negative • CMV: Negative • Treponema pallidum: Positive Treponema pallidum IHC Treponema pallidum immunostain Findings • Colonoscopy: Rectal ulceration • History of colitis for 3 years – diagnosis of ulcerative colitis on mesalamine • History of unprotected sex with men 4 months prior • Tests: • 1. HIV/Hep B/Tb/Gonorrhea/chlamydia: negative • 2. RPR: Reactive (titer: 1:256 ) • 3. -
Posterior Glottic Stenosis in Adults
Original Articles Posterior Glottic Stenosis in Adults Michael Wolf MD, Adi Primov-Fever MD, Yoav P. Talmi MD FACS and Jona Kronenberg MD Department of Otorhinolaryngology & Head Neck Surgery, Sheba Medical Center, Tel Hashomer, Israel Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel Key words: larynx, vocal cords, stenosis, fixation, laryngoplasty Abstract entiation between vocal cord paralysis and fixation [3,4], although Background: Posterior glottic stenosis is a complication of some patients survived complex central nervous system and prolonged intubation, manifesting as airway stenosis that may mimic peripheral organ injuries, long courses of mechanical ventilation, bilateral vocal cord paralysis. It presents a variety of features that oral or nasal intubation, and nasogastric tubing. These may result mandate specific surgical interventions. in combined pathologies of both paralysis and fixation, or they Objectives: To summarize our experience with PSG and its working diagnosis. may mask the alleged simplicity of making a diagnosis based Methods: We conducted a retrospective review of a cohort of solely on clinical grounds. The extent of scarring dictates the adult patients with PGS operated at the Sheba Medical Center extent of surgical intervention. While endoscopic lysis of the scar between 1994 and 2006. is appropriate for grade 1, complex laryngoplasty procedures are Results: Ten patients were diagnosed with PGS, 6 of whom mandated for grades 2 to 4 [3]. also had stenosis at other sites of -
From Sacrum to Spine: a Complex Case of Sacrococcygeal Teratoma
From Sacrum to Spine: A Complex Case of Sacrococcygeal Teratoma Jennifer Young, MN, RN(EC) NP-Pediatrics, NNP-BC Hazel Pleasants-Terashita, MN, RN(EC) NP-Pediatrics, NNP-BC Continuing Nursing Education (CNE) ABSTRACT Credit The test questions are pro- Neonatal tumors occur infrequently; sacrococcygeal teratoma (SCT) is a rare and abnormal mass vided in this issue. The often diagnosed on antenatal ultrasound. An SCT may cause serious antenatal complications, requires posttest and evaluation must be com- surgery in the neonatal period, and can lead to various long-term sequelae including fecal incontinence pleted online. Details to complete the course are provided online at acade- or constipation, urinary incontinence, and lower extremity mobility impairment. Even rarer are SCTs myonline.org. Sign into your ANN that include intraspinal extension necessitating complex neurosurgical intervention to relieve possible account or register for a non-member spinal cord compression or tumor tissue resection. A comprehensive understanding of the natural account if you are not a member. A total of 1.5 contact hour(s) can be earned as history of SCT provides frontline neonatal nurses and nurse practitioners with the expertise and CNE credit for reading this article, language to support families during an infant’s NICU admission. A glossary of key terms accompanied studying the content, and completing the online posttest and evaluation. To by a case review of a premature infant born with a large external SCT with intrapelvic and intraspinal be successful, the learner must obtain a components aids in enhancing knowledge related to the potential impact of an SCT on the central grade of at least 80 percent on the test. -
Association Between Hereditary Hemochromatosis and Hepatocellular Carcinoma: a Comprehensive Review
Jayachandran et al. Hepatoma Res 2020;6:8 Hepatoma Research DOI: 10.20517/2394-5079.2019.35 Review Open Access Association between hereditary hemochromatosis and hepatocellular carcinoma: a comprehensive review Aparna Jayachandran1,2, Ritu Shrestha1,2, Kim R. Bridle1,2, Darrell H. G. Crawford1,2 1The University of Queensland, Faculty of Medicine, Brisbane, QLD 4006, Australia. 2Gallipoli Medical Research Institute, Greenslopes Private Hospital, Brisbane, QLD 4120, Australia. Correspondence to: Prof. Darrell H. G. Crawford, Gallipoli Medical Research Institute, The University of Queensland, Faculty of Medicine, Lower Lobby Level, Administration Building, Greenslopes Private Hospital, Greenslopes, QLD 4120, Australia. E-mail: [email protected] How to cite this article: Jayachandran A, Shrestha R, Bridle KR, Crawford DHG. Association between hereditary hemochromatosis and HCC: a comprehensive review. Hepatoma Res 2020;6:8. http://dx.doi.org/10.20517/2394-5079.2019.35 Received: 15 Nov 2019 First Decision: 10 Dec 2019 Revised: 4 Feb 2020 Accepted: 18 Feb 2020 Published: 6 Mar 2020 Science Editor: Guang-Wen Cao Copy Editor: Jing-Wen Zhang Production Editor: Tian Zhang Abstract Hepatocellular carcinoma (HCC) is a significant global health problem with high morbidity and mortality. Its incidence is increasing exponentially worldwide with a close overlap between annual incidence and death rates. Even though significant advances have been made in HCC treatment, fewer than 20% of patients with HCC are suitable for potentially curative treatment. Hereditary hemochromatosis (HH) is an important genetic risk factor for HCC. HH is an autosomal recessive disorder of iron metabolism, characterised by elevated iron deposition in most organs including the liver, leading to progressive organ dysfunction. -
Isolated Brachialis Muscle Atrophy
A Case Report & Literature Review Isolated Brachialis Muscle Atrophy John W. Karl, MD, MPH, Michael T. Krosin, MD, and Robert J. Strauch, MD or sensory complaints. His medical history was otherwise Abstract unremarkable. Physical examination revealed obvious wast- Isolated brachialis muscle atrophy, a rare entity with ing of the right brachialis muscle, most notable on the lateral few reported cases in the literature, is explained by a aspect of the distal arm (Figures 1, 2A, 2B). His biceps muscle variety of etiologies. We present a case of unilateral, was functioning with full strength and had a normal bulk. He isolated brachialis muscle atrophy that likely resulted had a normal range of active and passive motion, including from neuralgic amyotrophy. full extension and flexion of both elbows, as well as complete Figure 1. Frontal view of both arms: note the brachialis atrophy solated brachialis muscle atrophy has been rarely reported. (solid arrow) on the right side, although the biceps contracts well. Among the few cases in the literature, 1 was attributed I to a presumed compartment syndrome,1 1 to a displaced clavicle fracture,2 and 3 to neuralgic amyotrophy.3,4 We pres- ent a case of isolated brachialis muscle atrophy of unknown etiology, the presentation of which is consistent with neuralgic amyotrophy, also known as Parsonage-Turner syndrome or brachial plexitis. The patient provided written informed consent for print and electronic publication of this case report. AJO Case Report A 37-year-old right-handed highway worker presented for eval- uation of right-arm muscle atrophy. One year earlier, while lift- ing heavy bags at work, he felt a painful strain in his right arm, although there was no bruising or swelling. -
Nr EC Aandoening Orphacode Patiëntenorganisatie Vragenlijst
Nr EC Aandoening Orphacode Patiëntenorganisatie Vragenlijst P PNR ingediend? G-24-12 ABeta amyloidosis, Dutch type ORPHA:100006 Vereniging HCHWA-D Nee P 14 G-8-7 Tubular duplication of the esophagus ORPHA:100048 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) Ja P 124 G-17-10 Neurogenic thoracic outlet syndrome ORPHA:100073 RSI-vereniging Nee P 305 G-11-43 Laryngeal neuroendocrine tumor ORPHA:100083 St NET-Groep Ja P 62 G-11-43 Middle ear neuroendocrine tumor ORPHA:100084 St NET-Groep Ja P 62 G-11-1 Thyroid tumor ORPHA:100087 Schildklier Organisatie NL (SON) Ja P 60 G-11-13 Thyroid tumor ORPHA:100087 Schildklier Organisatie NL (SON) Ja P 60 G-11-35 Thyroid Tumor ORPHA:100087 Schildklier Organisatie NL (SON) Ja P 60 G-11-13 Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) Ja P 60 G-11-35 Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) Ja P 60 G-3-11 Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) Ja P 60 G-3-17 Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) Ja P 60 G-3-13 Adrenal/paraganglial tumor ORPHA:100091 Nlse Vereniging voor patiënten met Paragangliomen (NVPG) Ja P 29 G-3-13 Adrenal/paraganglial tumor ORPHA:100091 Bijniervereniging (NVACP) Nee P 64 G-3-2 Adrenal/paraganglial tumor ORPHA:100091 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) Ja P 29 G-3-2 Adrenal/paraganglial tumor ORPHA:100091 Bijniervereniging (NVACP) Nee P 64 G-11-29 Gastroenteropancreatic neuroendocrine neoplasm ORPHA:100092 St NET-Groep Ja P 62 G-11-27 Thymic tumor ORPHA:100100 -
Whole Exome Sequencing Gene Package Intellectual Disability, Version 9.1, 31-1-2020
Whole Exome Sequencing Gene package Intellectual disability, version 9.1, 31-1-2020 Technical information DNA was enriched using Agilent SureSelect DNA + SureSelect OneSeq 300kb CNV Backbone + Human All Exon V7 capture and paired-end sequenced on the Illumina platform (outsourced). The aim is to obtain 10 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate and non-unique reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA-MEM algorithm (reference: http://bio-bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A2ML1 {Otitis media, susceptibility to}, 166760 610627 66 100 100 96 AARS1 Charcot-Marie-Tooth disease, axonal, type 2N, 613287 601065 63 100 97 90 Epileptic encephalopathy, early infantile, 29, 616339 AASS Hyperlysinemia, -
Sacrococcygeal Teratoma and Normal Alphafetoprotein Concentration on September 26, 2021 by Guest
J Med Genet: first published as 10.1136/jmg.22.5.405 on 1 October 1985. Downloaded from Case reports 405 Lymphocyte studies revealed the mother's band has been incorporated into another breakpoint chromosomes to be normal. The father was unavail- site. The smallness of the deleted segment may able for study. explain her minimal dysmorphogenetic features; however, there is a lack of clinical similarity Discussion between our patient and the other two cases of interstitial 2p deletions. For example, our patient The clinical features of patients with deletions of 2p had premature closure of her fontanelles, whereas are summarised in the table. The patient of three other patients, including one with a deleted Ferguson-Smith et at2 is not included in the tabula- segment incorporating band 2p14,4 had delayed tion because he was also partially trisomic for the closure of their fontanelles. It is possible that our distal four bands of Sq and so was not a pure case of patient's physical and mental stigmata are the partial 2p monosomy. The patient reported by consequence of a disruption in one or more gene's Zachai et at5 is identical to case 2 of Emanuel et al. 1 nucleotide sequence resulting from this child's Given the paucity of reported cases, only the most numerous chromosome breaks. Given the uncer- tentative statements can be made regarding the tainty of our patient's karyotype and the limited clinical picture associated with deletions of 2p. The number of 2p deletion cases, it is evident that more Iwo cases presented by Emanuel et all have nearly cases of 2p deletions are required before a clear cut identical deleted segments and share the following 2p deletion syndrome, or syndromes, emerges. -
Marginal Zone Lymphoma
311 Original Article Marginal Zone Lymphoma Omid S. Shaye, MD, and Alexandra M. Levine, MD, Los Angeles, California Key Words common of the 3 subtypes is extranodal MZL of MALT Marginal zone lymphoma, MALT lymphoma, splenic marginal zone type, which represents 8% of non-Hodgkin lymphomas.3 lymphoma, nodal marginal zone lymphoma Gastric MALT lymphoma (GML) is the prototype of this entity, with considerable data describing its association Abstract with chronic gastritis secondary to Helicobacter pylori. Marginal zone lymphomas (MZLs) comprise 3 distinct entities: extra- The other MZL subtypes are less common, with SMZL and nodal MZL of mucosa-associated lymphoid tissue (MALT), splenic MZL, and nodal MZL. Gastric MALT lymphoma is the most common NMZL each composing less than 1% of all lymphomas. extranodal MZL and often develops as a result of chronic Helicobacter pylori gastritis. Such cases frequently respond to antibiotics directed against H. pylori. Antigen-driven lymphomatous disease can also be Extranodal MZL of MALT Type seen in the association of Borrelia burgdorferi with MALT lymphoma Isaacson and Wright4 first described MALT lymphoma of the skin, Chlamydia psittaci with MALT lymphoma of the ocular adnexa, Campylobacter jejuni with immunoproliferative disease of in 1983. Since then, the unique pathogenesis of disease, the small intestine, and hepatitis C with splenic MZL. This article dis- which is related to antigen-induced proliferation of lym- cusses the pathogenesis and clinical features of MZL and the treat- phoid tissue, has received increasing attention. MALT ment options available to patients. (JNCCN 2006;4:311–318) can be found in 2 situations. The usual and normal form consists of lymphoid tissue present in specific areas in the In 1994, the Revised European-American Lymphoma gut, such as Peyer patches. -
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 -
Cancer Research and Reports an Open Access Journal CRR-1-E102
Cancer Research and Reports An open access journal CRR-1-e102 Editorial Paediatric Gynaecologic Neoplasms Abdelrahman K Hanafy, Priya R Bhosale, Ajaykumar C Morani* Departments of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA Introduction common than mature teratomas. Degree of malignancy is determined based on the level of neuroectodermal component A variety of gynaecologic neoplasms occur in the pediatric differentiation in tissue samples [11]. Teratomas can also occur population. Differentiating between benign and malignant extragonadal; the important one which needs a particular lesions and reaching the correct diagnosis in a timely manner is mention includes sacrococcygeal teratoma (SCT). SCT is the crucial to preserve fertility, which is a priority in this most common teratoma in neonates, and often detected on population. Awareness of the clinical, laboratory and pertinent prenatal US. Most SCTs are benign at birth; however, imaging characteristics of such lesions will facilitate their malignant transformation can occur. Associated anorectal and recognition in clinical practice. genitourinary malformations may also occur. MRI is the best modality for depicting this lesion and evaluating surrounding Ovarian neoplasms structures for invasion. After resection of SCT, surveillance for recurrence is recommended for 3 years utilizing a combination Ovarian tumors are uncommon in childhood having an of physical exam, AFP levels and periodic pelvic imaging [12- incidence of 2.6 /100,000 girls per year. Majority of these are 14]. Dysgerminoma is the most common malignant ovarian benign; less than one third are malignant [1,2]. Presentation is germ cell tumor (MOGCT). On MRI, it appears as a solid usually as a palpable mass or abdominal pain. -
Idiopathic Subglottic Stenosis: a Review
1111 Editorial Section of Interventional Pulmonology Idiopathic subglottic stenosis: a review Carlos Aravena1,2, Francisco A. Almeida1, Sanjay Mukhopadhyay3, Subha Ghosh4, Robert R. Lorenz5, Sudish C. Murthy6, Atul C. Mehta1 1Department of Pulmonary Medicine, Respiratory Institute, Cleveland Clinic, Cleveland, OH, USA; 2Department of Respiratory Diseases, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile; 3Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, 4Department of Diagnostic Radiology, 5Head and Neck Institute, 6Department of Thoracic and Cardiovascular Surgery, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH, USA Contributions: (I) Conception and design: C Aravena, AC Mehta; (II) Administrative support: All authors; (III) Provision of study materials or patients: All authors; (IV) Collection and assembly of data: C Aravena, AC Mehta; (V) Data analysis and interpretation: All authors; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Atul C. Mehta, MD, FCCP. Lerner College of Medicine, Department of Pulmonary Medicine, Respiratory Institute, Cleveland Clinic, 9500 Euclid Ave, A-90, Cleveland, OH 44195, USA. Email: [email protected]. Abstract: Idiopathic subglottic stenosis (iSGS) is a fibrotic disease of unclear etiology that produces obstruction of the central airway in the anatomic region under the glottis. The diagnosis of this entity is difficult, usually delayed and confounded with other common respiratory diseases. No apparent etiology is identified even after a comprehensive workup that includes a complete history, physical examination, pulmonary function testing, auto-antibodies, imaging studies, and endoscopic procedures. This approach, however, helps to exclude other conditions such as granulomatosis with polyangiitis (GPA). It is also helpful to characterize the lesion and outline management strategies.