POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia
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Congenital Diarrheal Disorders: an Updated Diagnostic Approach
4168 Int. J. Mol. Sci.2012, 13, 4168-4185; doi:10.3390/ijms13044168 OPEN ACCESS International Journal of Molecular Sciences ISSN 1422-0067 www.mdpi.com/journal/ijms Review Congenital Diarrheal Disorders: An Updated Diagnostic Approach Gianluca Terrin 1, Rossella Tomaiuolo 2,3,4, Annalisa Passariello 5, Ausilia Elce 2,3, Felice Amato 2,3, Margherita Di Costanzo 5, Giuseppe Castaldo 2,3 and Roberto Berni Canani 5,6,* 1 Department of Gynecology-Obstetrics and Perinatal Medicine, University of Rome “La Sapienza”, Viale del Policlinico 1, Rome 00161, Italy; E-Mail: [email protected] 2 CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy; E-Mails: [email protected] (R.T.); [email protected] (A.E.); [email protected] (F.A.); [email protected] (G.C.) 3 Department of Biochemistry and Biotechnology, University of Naples “Federico II”, Via Pansini 5, Naples 80131, Italy 4 Biotechnology Science, University of Naples “Federico II”, Via De Amicis, Naples 80131, Italy 5 Department of Pediatrics, University of Naples “Federico II”, Via Pansini 5, Naples 80131, Italy; E-Mails: [email protected] (A.P.); [email protected] (M.D.C.) 6 European Laboratory for the Investigation of Food Induced Diseases, University of Naples “Federico II”, Via Pansini 5, Naples 80131, Italy * Author to whom correspondence should be addressed; E-Mail: [email protected]; Tel./Fax: +39-0817462680. Received: 18 February 2012; in revised form: 2 March 2012 / Accepted: 19 March 2012 / Published: 29 March 2012 Abstract: Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. -
Colonoscopic Review and Surgical Approach in the Management of Colorectal Carcinoma–A Retrospective Study of 50 Cases
Original Paper Colonoscopic Review and Surgical Approach in the Management of Colorectal Carcinoma–A Retrospective Study of 50 cases 1 2 3 Ershad-ul-Quadir M , Rahman MMM , Rahman MM Abstract Introduction: There is no exact statistics about the with abdominal pain 12 out of 22 cases (56%) and incidence of colorectal cancer in Bangladesh. weight loss 15 cases (68%). For left colon cancer According to National Cancer Institute, London, it is commonest symptom was weight loss and weakness the 2nd most common cancer affecting more than and altered bowel habit. Almost all cases with rectal 30,000 people in each year. As many patients with carcinoma presented with bleeding per rectum. colon cancer do not develop symptoms until it is advanced and detection in early stage can only be Conclusion: About 50% of lesions were found in achieved by screening of asymptomatic person. recto-sigmoid junction and male: female ratio was Maximum patients present lately with distance 1.9:1. All efforts and modern technology should be metastases when there is nothing to treat except applied for early detection and treatment. The palliative therapy. survival rate is usually very poor in rectal carcinoma. In this study most of the cases were subjected to Objectives: To identify the risk factors, early post operative Chemo and Radiotherapy, but more symptoms, signs, treatment modalities, operative were treated with neoadjuvant chemoradiation for outcome, morbidity and mortality rate. down staging. The need for early detection of Colorectal Carcinoma (CRC) should be stressed in Materials and Methods: This retrospective study the form of screening patient awareness and was carried out at CMH Dhaka during August 2002 understanding about symptomatology. -
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. -
Colorectal Cancer Symptoms
Colorectal Symptoms - Suspected Colorectal Cancer Disclaimer This pathway is for symptomatic patients. see also National Bowel Cancer Screening Program (NBCSP). Contents Disclaimer ............................................................................................................................................................................................ 1 Background .................................................................................................................................................. 2 About colorectal symptoms ......................................................................................................................................................... 2 Assessment ................................................................................................................................................... 2 Rectal bleeding .................................................................................................................................................................................. 2 Gastrointestinal history .................................................................................................................................................................. 2 Previous procedures ........................................................................................................................................................................ 2 Family history of bowel cancer ................................................................................................................................................... -
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 -
Coexistence of Pneumothorax and Chilaiditi Sign: a Case Report
Asian Pac J Trop Biomed 2014; 4(1): 75-77 75 Contents lists available at ScienceDirect Asian Pacific Journal of Tropical Biomedicine journal homepage: www.elsevier.com/locate/apjtb Document heading doi:10.1016/S2221-1691(14)60212-4 2014 by the Asian Pacific Journal of Tropical Biomedicine. All rights reserved. 襃 Coexistence of pneumothorax and chilaiditi sign: A case report 1 1 2 1 1 1 1 Tangri Nitin *, Singhal Sameer , Sharma Priyanka , Mehta Dinesh , Bansal Sachin , Bhushan Neeraj , Singla Sulbha , Singh 1 Puneet 1Department of Respiratory Medicine, M.M Institute of Medical Sciences & Research, Mullana, Ambala, Haryana, India 2Department of Biochemistry, M.M Institute of Medical Sciences & Research, Mullana, Ambala, Haryana, India PEER REVIEW ABSTRACT Peer reviewer We present a case of 50 year old male patient withfi coexistence of Pneumothorax and Chilaiditi Dr Sumit Mehra, MD (Pulmonary sign. Chilaiditi sign is an incidental radiographic nding of a usually asymptomatic condition Medicine) Fellowship Sleep Medicine “in which a part of in”testine is located between the liver and diaphragm; however, the term (AASM, USA), Department of medicine, Chilaiditi syndrome is used for symptomatic hepatodiaphragmatic interposition. The patient H H H ervey bay ospital, ervey bay, had no symptoms of abdominal pain, constipation, diarrhea, ofir emesis. Incidentally, Chilaiditi Queensland Australia. sign was diagnosed on chest radiography. Pneumothorax is de ned as air in the pleural space. Tel: +6107 4325 6666, +6104 7741 2243 Pneumothoraces are classified as spontaneous or traumatic. Spontaneous pneumothorax is E-mail: Sumitmeh2000@yahoo labelled as primary when no underlying lung disease is present, or secondary, when it is [email protected] associated with pre-existing lung disease. -
An Observational Study of Abdominal Organ Involvement Detected By
Published online: 2019-04-05 Original Article An observational study of abdominal organ involvement detected by ultrasound and computed tomography in children suffering from lymphoreticular malignancy at a tertiary care hospital in Eastern India ABSTRACT Introduction: Abdominal organs are usually involved in lymphoreticular malignancies (LRM), and the detection is crucial for Initial staging, determination of the location and extent of disease, and is the hallmark for the choice of treatment. At present, the established radiological technique for staging Hodgkin’s disease is computed tomography (CT) and ultrasonography (USG) in our country. Objective: The objective of the study was to evaluate the pattern of abdominal organ involvement in childhood LRM by USG and CT and to analyze the findings. Methods: The study included 121 children with newly diagnosed childhood LRM who underwent real time USG and contrast enhanced CT scan. The records of the US and CT scanning were analyzed with respect to size, shape, margins, echogenicity /density pattern of various abdominal organs and lymph nodes to evaluate the extent and pattern of abdominal organ involvement by the disease process. Results: Out of 121 cases of LRM, US detected significant portal lymphadenopathy in 9 (7.44%) cases where CT detected enlarged portal nodes in only 3 and missed in 6 cases. However in the retroperitoneal lynphadenopathy CT scored over US, as CT detected 16 (13.22%) cases as against 13 (10.74%) cases detected by US. Conclusion: In our study we observed abdominal organs are commonly involved at the time of initial presentation in childhood LRM, with diffuse organomegaly being commoner than focal lesions. -
Approach to Nausea and Vomiting
Approach to Nausea and Vomiting By James F. Graumlich, MD, FACP Associate Professor of Medicine and Clinical Pharmacology University of Illinois College of Medicine Peoria, IL 61637 Approach to Nausea and Vomiting Objectives: At the end of this session, the learner will be able to List the causes of nausea and vomiting based on organ systems Describe the diagnostic approach to nausea and vomiting based on the history and physical exam and diagnostic laboratory and radiographic tests Discuss the pharmacologic interventions available for the treatment of nausea and vomiting Describe interventions to prevent complications of nausea and vomiting References: Gan TJ. Postoperative nausea and vomiting--can it be eliminated? JAMA. 287(10): 1233-6, 2002 Mar 13. Tramer MR. A rational approach to the control of postoperative nausea and vomiting: evidence from systematic reviews. Part II. Recommendations for prevention and treatment, and research agenda. Acta Anaesthesiologica Scandinavica. 45(1): 14-9, 2001 Jan. Apfel CC, Korttila K, Abdalla M, Kerger H, Turan A, Vedder I, Zernak C, Danner K, Jokela R, Pocock SJ, Trenkler S, Kredel M, Biedler A, Sessler DI, Roewer N; IMPACT Investigators. A factorial trial of six interventions for the prevention of postoperative nausea and vomiting. N Engl J Med. 2004 Jun 10;350(24):2441-51. Scorza K, Williams A, Phillips D, Shaw J. Evaluation of Nausea and Vomiting Am Fam Physician 2007;76:76-84 Section I Directions: Begin by reading the references. Use the information from the background article (and other sources as appropriate) to answer the questions following each case. The questions are "open-ended" and therefore there are no right or wrong answers. -
Orphanet Report Series Rare Diseases Collection
Orphanet Report Series Rare Diseases collection January 2013 Disease Registries in Europe www.orpha.net 20102206 Table of contents Methodology 3 List of rare diseases that are covered by the listed registries 4 Summary 13 1- Distribution of registries by country 13 2- Distribution of registries by coverage 14 3- Distribution of registries by affiliation 14 Distribution of registries by country 15 European registries 38 International registries 41 Orphanet Report Series - Disease Registries in Europe - January 2013 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Methodology Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients. Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorisation is usually granted at a time when evidence is still limited although already somewhat convincing. This report gather the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases. Cancer registries are listed only if they belong to the network RARECARE or focus on a rare form of cancer. The report includes data about EU countries and surrounding countries participating to the Orphanet consortium. -
2016 Essentials of Dermatopathology Slide Library Handout Book
2016 Essentials of Dermatopathology Slide Library Handout Book April 8-10, 2016 JW Marriott Houston Downtown Houston, TX USA CASE #01 -- SLIDE #01 Diagnosis: Nodular fasciitis Case Summary: 12 year old male with a rapidly growing temple mass. Present for 4 weeks. Nodular fasciitis is a self-limited pseudosarcomatous proliferation that may cause clinical alarm due to its rapid growth. It is most common in young adults but occurs across a wide age range. This lesion is typically 3-5 cm and composed of bland fibroblasts and myofibroblasts without significant cytologic atypia arranged in a loose storiform pattern with areas of extravasated red blood cells. Mitoses may be numerous, but atypical mitotic figures are absent. Nodular fasciitis is a benign process, and recurrence is very rare (1%). Recent work has shown that the MYH9-USP6 gene fusion is present in approximately 90% of cases, and molecular techniques to show USP6 gene rearrangement may be a helpful ancillary tool in difficult cases or on small biopsy samples. Weiss SW, Goldblum JR. Enzinger and Weiss’s Soft Tissue Tumors, 5th edition. Mosby Elsevier. 2008. Erickson-Johnson MR, Chou MM, Evers BR, Roth CW, Seys AR, Jin L, Ye Y, Lau AW, Wang X, Oliveira AM. Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest. 2011 Oct;91(10):1427-33. Amary MF, Ye H, Berisha F, Tirabosco R, Presneau N, Flanagan AM. Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool. Virchows Arch. 2013 Jul;463(1):97-8. CONTRIBUTED BY KAREN FRITCHIE, MD 1 CASE #02 -- SLIDE #02 Diagnosis: Cellular fibrous histiocytoma Case Summary: 12 year old female with wrist mass. -
Abdominal Organomegaly
ABDOMINAL ORGANOMEGALY Liver Anatomy Healthy liver measures 14-17cm in midclavicular line From right 5th intercostal space to costal margin 4 lobes → Dual blood supply from hepatic artery (25%) & hepatic portal vein (75%) A portal venous system is when one A portal venous system capillary bed pools into another without first returning to the heart Hepatic portal vein receives venous blood from the spleen, stomach, gallbladder, pancreas and small & large intestine Hepatomegaly May be suspected on physical examination by percussion or palpation of a liver edge Non- specific finding requiring further investigation Causes include: Normal Liver Surface Markings Infective Neoplastic/ Haematological Hepatitis Metastases Glandular fever Hepatocellular carcinoma Liver abscess Hepatoma Malaria Haematological malignancy Amoebic infection Haemolytic anaemias Leptospirosis Drugs & alcohol Metabolic Alcohol abuse →cirrhosis Haemochromotosis Statins Wilson’s disease Paracetamol Porphyria Macrolides Amiodarone Biliary disease Infiltrative Obstruction Sarcoidosis Primary biliary cirrhosis Amyloidosis Primary sclerosing cholangitis CAP 2 Kevin Gervin 18/5/17 Splenic anatomy & function Anatomical values can be remembered by 1 x 3 x 5 x 7 x 9 x 11 rule: Measures 1” x 3” x 5” Weighs 7 oz. (200g) Situated between 9th & 11th ribs on the left Diaphragmatic surface is smooth Visceral surface is divided by a ridge, into gastric (anterior) & renal (posterior surface, and has a vascular hilum Arterial supply from splenic artery, a branch of the coeliac trunk 2 forms of ‘pulp’: Red pulp filters defective erythrocytes, antigens and microorganisms o Stores erythrocytes & platelets White pulp involved in active immune response via humoral & cell mediated pathways o Rich in B & T Lymphocytes o Produces opsonins Splenomegaly Moderate splenomegaly: 11-20cm & >400g Massive splenomegaly: >20cm & >1kg Infectious Haematological Encapsulated bacteria, Haemoglobinopathies abscess, TB, Sickle cell crisis Sepsis Haematopoietic Viral infections e.g. -
Chronic Abdo Pain
PedsCases Podcast Scripts This is a text version of a podcast from Pedscases.com on “Chronic Abdominal Pain in Children.” These podcasts are designed to give medical students an overview of key topics in pediatrics. The audio versions are accessible on iTunes or at www.pedcases.com/podcasts. Chronic Abdominal Pain in Children Developed by Peter MacPherson and Dr. Melanie Lewis for PedsCases.com. June 22, 2010 Introduction Peter: Hi everyone, my name is Peter MacPherson and I'm a medical student at the University of Alberta. I'm joined today by Dr. Mel Lewis. Dr. Lewis is a general pediatrician and an Associate Professor of Pediatrics at the Stollery Children's Hospital and University of Alberta. She is also the Pediatrics Clerkship Director. Today, we're going to be talking about chronic abdominal pain in kids. We covered acute abdominal pain in a different podcast. We'll take you through an approach to the history and physical in these cases, discuss laboratory investigations and imaging and go over some specific causes of chronic abdominal pain. Sound like a plan? Dr. Lewis: Sounds great The first thing I'd like to point out is that chronic abdominal pain is extremely common - somewhere in the neighborhood of 10-15% of school-age children have chronic abdominal pain. We'll see that most of these cases are functional pain. Around 10% of these children will have an organic cause, but these less common causes ALWAYS need to be considered in your evaluation of a child's abdominal pain. Chronic abdominal pain, which is also called recurrent abdominal pain, is generally defined as at least 3 attacks over at least 3 months that affect activities.