Important Medical Event Terms List (Meddra Version 22.0)

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13 March 2019 EMA/175234/2019 Inspections, Human Medicines Pharmacovigilance & Committees Division Important medical event terms list (MedDRA version 22.

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Pathology of Head and Neck

Pathology of Head and Neck • Pathology of Oral cavity • Pathology of Nose, and Nasopharynx • Pathology of Larynx • Pathology of Neck • Pathology of Salivary gland ผูชวยศาสตราจารย แพทยหญิง จุลินทร สําราญ Pathology of Oral cavity Inflammations and infections • Inflammations and infections • Herpes simplex virus infections • Reactive lesions • Aphthous ulcer ( Canker sores ) • Oral manifestations of systemic disease • Oral candidiasis ( Thrush ) • Glossitis • Tumors and precancerous lesions • Xerostomia 1 Herpes simplex virus infections • Etiology ; HSV1 • Clinical feature ; – Acute herpetic gingivostomatitis in young children , severe diffuse involvement of the oral and pharyngeal mucosa, tongue and gingiva ,and spontaneously clear in 3-4 weeks • Morphology – Recurrent herpetic stomatitis in young adult , – Gross ; Small vesicles to bullae painful, red- milder form involving lip, nasal orifices and buccal rimmed, shallow ulceration mucosa and spontaneously clear in 1-2 weeks – Histo ; Acantholysis and presence of intranuclear inclusion with multinucleated giant cells 2 Aphthous ulcer ( Canker sores ) • Morphology ; – Gross ; single or multiple, shallow, hyperemic ulceration with red-rimmed and thin exudate covering – Histo ; mainly mononuclear cell infiltration • Common superficial ulceration of oral mucosa and neutrophilic infiltration when has • Most in first decade of life secondary bacterial infection • Clinical feature; painful and recurrent ulceration and clear within a week Oral candidiasis ( Thrush ) • The most common fungal infection
Duodenal Webs: an Experience with 18 Patients

Journal of Neonatal Surgery 2012;1(2):20 O R I G I N A L A R T I C L E DUODENAL WEBS: AN EXPERIENCE WITH 18 PATIENTS Yogesh Kumar Sarin,* Akshay Sharma, Shalini Sinha, Vidyanand Pramod Deshpande Department of Pediatric Surgery, Maulana Azad Medical College, New Delhi-110002 * Corresponding Author Available at http://www.jneonatalsurg.com This work is licensed under a Creative Commons Attribution 3.0 Unported License How to cite: Sarin YK, Sharma A, Sinha S, Deshpande VP. Duodenal webs: an experience with 18 patients. J Neonat Surg 2012; 1: 20 ABSTRACT Aim: To describe the management and outcome of patients with duodenal webs, managed over a peri- od of 12 ½ years in our unit. Methods: It is a retrospective case series of 18 patients with congenital duodenal webs, managed in our unit, between 1999 and 2011. The medical record of these patients was retrieved and analyzed for demographic details, clinical presentation, associated anomalies, and outcome. Results: The median age of presentation was 8 days (range 1 day to 1.5 years). Antenatal diagnosis was made in only 2 (11.1%) patients. The commonest presentation was bilious vomiting. Associated anomalies were present in 8/18 patients, common being malrotation of gut. Down’s syndrome was seen in 2 patients and congenital heart disease in 1 patient. One patient had double duodenal webs. There was a delay in presentation of more than 5 days of life in 11/18 (61%) patients. Three patients who presented beyond neonatal age group had fenestrated duodenal membranes causing partial ob- struction.
Genetic Syndromes and Genes Involved

ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus.
Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original Articles

Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original articles Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess J Med Genet: first published as on 1 April 1992. Downloaded from of transmitting females C Moutou, C Junien, / Henry, C Bonai-Pellig 217 Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome D Viljoen, R Ramesar 221 Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation T Ogata, J R Hawkins, A Taylor, N Matsuo, J-1 Hata, P N Goodfellow 226 Highly polymorphic Xbol RFLPs of the human 21 -hydroxylase genes among Chinese L Chen, X Pan, Y Shen, Z Chen, Y Zhang, R Chen 231 Screening of microdeletions of chromosome 20 in patients with Alagille syndrome C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, A Aurias 233 Confirmation of genetic linkage between atopic IgE responses and chromosome 1 1 ql 3 R P Young, P A Sharp, J R Lynch, J A Faux, G M Lathrop, W 0 C M Cookson, J M Hopkini 236 Age at onset and life table risks in genetic counselling for Huntington's disease P S Harper, R G Newcombe 239 Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1) E Coto, S Aguado, J Alvarez, M J Menendez-DIas, C Lopez-Larrea 243 Short communication Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene S E Pound, A D Carothers, P M Pignatelli, A M Macnicol, M L Watson, A F Wright 247 Technical note A strategy for the rapid isolation of new PCR based DNA polymorphisms P R Hoban, M F Santibanez-Koref, J Heighway 249 http://jmg.bmj.com/ Case reports Campomelic dysplasia associated with a de novo 2q;1 7q reciprocal translocation I D Young, J M Zuccollo, E L Maltby, N J Broderick 251 A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 R Tupler, P Maraschio, A Gerardo, R Mainieri G Lanzi L Tiepolo 253 on September 26, 2021 by guest.
Bacterial Soft Tissue Infections Following Water Exposure

CHAPTER 23 Bacterial Soft Tissue Infections Following Water Exposure Sara E. Lewis, DPM Devin W. Collins, BA Adam M. Bressler, MD INTRODUCTION to early generation penicillins and cephalosporins. Thus, standard treatments include fluoroquinolones (ciprofloxacin, Soft tissue infections following water exposure are relatively levofloxacin), third and fourth generation cephalosporins uncommon but can result in high morbidity and mortality. (ceftazidime, cefepime), or potentially trimethoprim-sulfa These infections can follow fresh, salt, and brackish water (4). However, due to the potential of emerging resistance exposure and most commonly occur secondary to trauma. seen in Aeromonas species, susceptibilities should always be Although there are numerous microorganisms that can performed and antibiotics adjusted accordingly (3). It is cause skin and soft tissue infections following water important to maintain a high index of suspicion for Aeromonas exposure, this article will focus on the 5 most common infections after water exposure in fresh and brackish water bacteria. The acronym used for these bacteria--AEEVM, and to start the patient on an appropriate empiric antibiotic refers to Aeromonas species, Edwardsiella tarda, Erysipelothrix regimen immediately. rhusiopathiae, Vibrio vulnificus, and Mycobacterium marinum. EDWARDSIELLA TARDA AEROMONAS Edwardsiella tarda is part of the Enterobacteriaceae family. Aeromonas species are gram-negative rods found worldwide in It is a motile, facultative anaerobic gram-negative rod fresh and brackish water (1-3). They have also been found in that can be found worldwide in pond water, mud, and contaminated drinking, surface, and polluted water sources the intestines of marine life and land animals (5). Risk (3). Aeromonas are usually non-lactose fermenting, oxidase factors for infection include water exposure, exposure positive facultative anaerobes.
WO 2014/134709 Al 12 September 2014 (12.09.2014) P O P C T

(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2014/134709 Al 12 September 2014 (12.09.2014) P O P C T (51) International Patent Classification: (81) Designated States (unless otherwise indicated, for every A61K 31/05 (2006.01) A61P 31/02 (2006.01) kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, (21) International Application Number: BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, PCT/CA20 14/000 174 DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, (22) International Filing Date: HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, 4 March 2014 (04.03.2014) KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, (25) Filing Language: English OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, (26) Publication Language: English SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, (30) Priority Data: ZW. 13/790,91 1 8 March 2013 (08.03.2013) US (84) Designated States (unless otherwise indicated, for every (71) Applicant: LABORATOIRE M2 [CA/CA]; 4005-A, rue kind of regional protection available): ARIPO (BW, GH, de la Garlock, Sherbrooke, Quebec J1L 1W9 (CA). GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, (72) Inventors: LEMIRE, Gaetan; 6505, rue de la fougere, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, Sherbrooke, Quebec JIN 3W3 (CA).
Pathophysiology, Diagnosis, and Management of Pediatric Ascites

INVITED REVIEW Pathophysiology, Diagnosis, and Management of Pediatric Ascites ÃMatthew J. Giefer, ÃKaren F. Murray, and yRichard B. Colletti ABSTRACT pressure of mesenteric capillaries is normally about 20 mmHg. The pediatric population has a number of unique considerations related to Intestinal lymph drains from regional lymphatics and ultimately the diagnosis and treatment of ascites. This review summarizes the physio- combines with hepatic lymph in the thoracic duct. Unlike the logic mechanisms for cirrhotic and noncirrhotic ascites and provides a sinusoidal endothelium, the mesenteric capillary membrane is comprehensive list of reported etiologies stratiﬁed by the patient’s age. relatively impermeable to albumin; the concentration of protein Characteristic ﬁndings on physical examination, diagnostic imaging, and in mesenteric lymph is only about one-fifth that of plasma, so there abdominal paracentesis are also reviewed, with particular attention to those is a significant osmotic gradient that promotes the return of inter- aspects that are unique to children. Medical and surgical treatments of stitial fluid into the capillary. In the normal adult, the flow of lymph ascites are discussed. Both prompt diagnosis and appropriate management of in the thoracic duct is about 800 to 1000 mL/day (3,4). ascites are required to avoid associated morbidity and mortality. Ascites from portal hypertension occurs when hydrostatic Key Words: diagnosis, etiology, management, pathophysiology, pediatric and osmotic pressures within hepatic and mesenteric capillaries ascites produce a net transfer of fluid from blood vessels to lymphatic vessels at a rate that exceeds the drainage capacity of the lym- (JPGN 2011;52: 503–513) phatics. It is not known whether ascitic fluid is formed predomi- nantly in the liver or in the mesentery.
Larynx (Vocal Cord Nodule)

ATLAS OF HEAD AND NECK PATHOLOGY LARYNX LARYNX (VOCAL CORD NODULE) Vocal cord nodules are seen in men more than women and are attributed to misuse of the voice and heavy smoking. They are located on the true vocal cords at the junction of the anterior one third and the posterior two thirds of the cords. They are not neoplastic. Hyperkeratosis is common where the nodule meets or “kisses” a similar nodule on the opposite cord. Other nodules are made of hyalinized collagen which may be confused with amyloid. Many of these nodules are quite vascular and almost hemangiomatous. Tissues submitted to the pathologist as “vocal cord nodules” may vary considerably due to inaccuracy of clinical diagnosis. Some “nodules” undoubtedly would better be described clinically as polyps or even granulomas. Vocal cord nodule. This may represent organizing/ recanalizing hemorrhage or organizing thrombosis in pre- existing vascular channels. No epithelium is seen. table of contents previous next ATLAS OF HEAD AND NECK PATHOLOGY LARYNX Vocal cord nodule, similar to the prior nodule. Recent hemorrhage and granulation tissue (double arrows) cov- ered with thick layer of squamous epithelium (arrow) and some keratin (triangle). Laryngeal papilloma. This specimen was submitted as a “nodule” but represents a laryngeal squamous papilloma of the human papilloma virus type and likely will recur. Koilocytosis is indicated by arrow. It is not what the clinician or pathologist would call a vocal cord nodule. table of contents previous next ATLAS OF HEAD AND NECK PATHOLOGY LARYNX Vocal cord nodule. Epithelium of a vocal cord nodule typically shows no dysplasia and a distinct basement membrane.
Diagnosis and Treatment of Jejunoileal Atresia

World J. Surg. 17, 310-3! 7, 1993 WORLD Journal of SURGERY 1993 by the Soci›233 O Internationale de Chirurgie Diagnosis and Treatment of Jejunoileal Atresia Robert J. Touloukian, M.D. Department of Surgery, Section of Pediatric Surgery, Yale University School of Medicine, and the Yale-New Haven Hospital, New Haven, Connecticut, U.S.A. A total of 116 cases of intestinal atresia or stenosis were encountered at the Classification Yale-New Haven Hospital between 1970 and 1990. Sites involved were the duodenum (n = 61; 53%), jejunum or ileum (n = 47; 46%), and colon (n Duodenum = 8; 7%). Ail but two patients underwent operative correction, for an overall survival rate of 92 %. Challenging problems were the management Sixty-one patients with duodenal atresia or stenosis were en- of apple-peel atresia (rive patients), multiple intestinal atresia with countered, including 12 with preampullary duodenal obstruc- short-gut syndrome (eight patients), and proximal jejunal atresia with megaduodenum requiring imbrication duodenoplasty (four patients). tion based on the absence of bile in the gastric contents. A Major assets in the improved outlook for intestinal atresia are prenatal diaphragm causing partial obstruction or duodenal stenosis was diagnosis, regionalization of neonatal care, improved recognition of found in 14 patients. An unusual cause of obstruction is associated conditions, innovative surgical methods, and uncomplicated complete absence of a duodenal segment accompanied by a long-terre total parenteral nutrition. mesenteric defect--seen in rive patients. Detecting a "wind- sock" web is critical because there is a tendency to confuse it with distal duodenal obstruction and the frequent occurrence of Atresia is the m0st common cause of congenital intestinal an anomalous biliary duct entering along its medial margin [9, obstruction and accounts for about one-third of all cases of 10].
Retrospective Study of Aeromonas Infection in a Malaysian Urban Area: a 10-Year Experience W S Lee, S D Puthucheary

Singapore Med J 2001 Vol 42(2) : 057-060 Original Article Retrospective Study of Aeromonas Infection in a Malaysian Urban Area: A 10-year Experience W S Lee, S D Puthucheary ABSTRACT Keywords: Aeromonas, gastroenteritis, childhood Aims: To describe the patterns of isolation of Singapore Med J 2001 Vol 42(2):057-060 Aeromonas spp. and the resulting spectrum of infection, intestinal and extra-intestinal, from infants INTRODUCTION and children in an urban area in a hot and humid A variety of human infections, including gastroenteritis, country from Southeast Asia. cellulitis, wound infections, hepatobiliary infections and Materials and methods: Retrospective review of all septicaemia have been reported to be associated with bacterial culture records from children below 16 Aeromonas spp.(1,2). At least three distinctive gastro- years of age, from the Department of Medical intestinal syndromes following gastroenteritis caused by Microbiology, University of Malaya Medical Centre, of Aeromonas sp. have been described: (a) acute, watery Kuala Lumpur, from January 1988 to December 1997. diarrhoea; (b) dysentery; and (c) subacute or chronic Review of all stool samples and rectal swabs obtained diarrhoea(3). Acute watery diarrhoea was self-limiting(4,5). from children during the same period were carried Dysentery-like illness with bloody and mucousy out to ascertain the isolation rate of Aeromonas sp. diarrhoea, mimicking childhood inflammatory bowel from stools and rectal swabs. The case records of disease was seen occasionally(3). The highest attack rate those with a positive Aeromonas culture were for Aeromonas-associated gastroenteritis appears to be retrieved and reviewed. in young children(4). A wide difference in the frequency of isolation of Aeromonas spp.
Chromosome 20

Chromosome 20 ©Chromosome Disorder Outreach Inc. (CDO) Technical genetic content provided by Dr. Iosif Lurie, M.D. Ph.D Medical Geneticist and CDO Medical Consultant/Advisor. Ideogram courtesy of the University of Washington Department of Pathology: ©1994 David Adler.hum_20.gif Introduction Chromosome 20 contains about 2% of the whole genetic material. Its genetic length is ~63 Mb. The long arm (~36 Mb) is a little bit larger than the short arm (~27 Mb). Chromosome 20 contains ~700–800 genes. Less than 10% of these genes are known to be related to human diseases. Deletions or duplications of these genes, which may be found in patients with chromosomal abnormalities, cause mostly functional defects, including a delay of psycho–motor development and seizures. Only a few genes may lead (when deleted) to structural defects of the heart, liver, extremities and other organs. Deletions of Chromosome 20 There is a relatively small number of known conditions caused by deletions and duplications of various segments of chromosome 20. Almost all of these deletions and duplications became recognized after usage of molecular cytogenetics. Only a handful of reports on patients with these abnormalities were available only 10 years ago. Because these methods open wide an opportunity to examine abnormalities of this previously not–well studied chromosome, there are no doubts that some new syndromes caused by deletions (or duplications) of chromosome 20 will be delineated in the near future. Currently, the most frequent forms of chromosome 20 deletions are deletions 20p12, involving the JAG1 gene and Alagille syndrome, and deletions 20q13.13q13.2, involving the SALL4 gene.
Megaesophagus in Congenital Diaphragmatic Hernia

Megaesophagus in congenital diaphragmatic hernia M. Prakash, Z. Ninan1, V. Avirat1, N. Madhavan1, J. S. Mohammed1 Neonatal Intensive Care Unit, and 1Department of Paediatric Surgery, Royal Hospital, Muscat, Oman For correspondence: Dr. P. Manikoth, Neonatal Intensive Care Unit, Royal Hospital, Muscat, Oman. E-mail: [email protected] ABSTRACT A newborn with megaesophagus associated with a left sided congenital diaphragmatic hernia is reported. This is an under recognized condition associated with herniation of the stomach into the chest and results in chronic morbidity with impairment of growth due to severe gastro esophageal reflux and feed intolerance. The infant was treated successfully by repair of the diaphragmatic hernia and subsequently Case Report Case Report Case Report Case Report Case Report by fundoplication. The megaesophagus associated with diaphragmatic hernia may not require surgical correction in the absence of severe symptoms. Key words: Congenital diaphragmatic hernia, megaesophagus How to cite this article: Prakash M, Ninan Z, Avirat V, Madhavan N, Mohammed JS. Megaesophagus in congenital diaphragmatic hernia. Indian J Surg 2005;67:327-9. Congenital diaphragmatic hernia (CDH) com- neonate immediately intubated and ventilated. His monly occurs through the posterolateral de- vital signs improved dramatically with positive pres- fect of Bochdalek and left sided hernias are sure ventilation and he received antibiotics, sedation, more common than right. The incidence and muscle paralysis and inotropes to stabilize his gener- variety of associated malformations are high- al condition. A plain radiograph of the chest and ab- ly variable and may be related to the side of domen revealed a left sided diaphragmatic hernia herniation. The association of CDH with meg- with the stomach and intestines located in the left aesophagus has been described earlier and hemithorax (Figure 1).