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Hyperammonemia in Review: Pathophysiology, Diagnosis, and Treatment
Pediatr Nephrol DOI 10.1007/s00467-011-1838-5 EDUCATIONAL REVIEW Hyperammonemia in review: pathophysiology, diagnosis, and treatment Ari Auron & Patrick D. Brophy Received: 23 September 2010 /Revised: 9 January 2011 /Accepted: 12 January 2011 # IPNA 2011 Abstract Ammonia is an important source of nitrogen and is the breakdown and catabolism of dietary and bodily proteins, required for amino acid synthesis. It is also necessary for respectively. In healthy individuals, amino acids that are not normal acid-base balance. When present in high concentra- needed for protein synthesis are metabolized in various tions, ammonia is toxic. Endogenous ammonia intoxication chemical pathways, with the rest of the nitrogen waste being can occur when there is impaired capacity of the body to converted to urea. Ammonia is important for normal animal excrete nitrogenous waste, as seen with congenital enzymatic acid-base balance. During exercise, ammonia is produced in deficiencies. A variety of environmental causes and medica- skeletal muscle from deamination of adenosine monophos- tions may also lead to ammonia toxicity. Hyperammonemia phate and amino acid catabolism. In the brain, the latter refers to a clinical condition associated with elevated processes plus the activity of glutamate dehydrogenase ammonia levels manifested by a variety of symptoms and mediate ammonia production. After formation of ammonium signs, including significant central nervous system (CNS) from glutamine, α-ketoglutarate, a byproduct, may be abnormalities. Appropriate and timely management requires a degraded to produce two molecules of bicarbonate, which solid understanding of the fundamental pathophysiology, are then available to buffer acids produced by dietary sources. differential diagnosis, and treatment approaches available. -
Management of Saliva and Drooling Excessive Saliva and Drooling Affects up to 50% of People with Parkinson’S (PD)
Management of Saliva and Drooling Excessive saliva and drooling affects up to 50% of people with Parkinson’s (PD). Drooling can be embarrassing and can limit social interactions for the person with PD. Saliva and Drooling Parkinson Information Parkinson It can also be an important symptom of swallowing difficulty, which can increase the risk of choking on saliva. People with Parkinson’s disease do not swallow automatically due to rigidity and impaired mobility of the muscles of the palate, throat and esophagus. Saliva pools in the mouth and can potentially become a hazard since swallowing into the lungs carries the risk of pneumonia. If you have poor posture, saliva collects in the front of the mouth, resulting in drooling. Cause and symptoms Decreased control of saliva is most often caused by changes in the ability to swallow, rather than from producing too much saliva. A common cause of drooling for people with PD is the weakening and/or loss of motor control of the muscles involved in swallowing. You may experience one or more of the following symptoms: • Decreased ability to keep your mouth closed at rest, known as the “open mouth posture” • Difficulty keeping lips closed • Lack of awareness of the saliva in your mouth • Wetness at the sides of your mouth • A wet sounding voice • Drooling with posture changes • Coughing and/or choking Evaluation and treatment Speak with your physician about all symptoms that may not be related to PD. If you are experiencing drooling or choking on your saliva, you may require a swallowing evaluation by a Speech Language Pathologist. -
WHO Safe Childbirth Checklist Implementation Guide Improving the Quality of Facility-Based Delivery for Mothers and Newborns
BACKGROUND AND OVERVIEW WHO Safe Childbirth Checklist Implementation Guide Improving the quality of facility-based delivery for mothers and newborns WHO SAFE CHILDBIRTH CHECKLIST IMPLEMENTATION GUIDE 1 WHO Library Cataloguing-in-Publication Data WHO safe childbirth checklist implementation guide: improving the quality of facility-based delivery for mothers and newborns. 1.Parturition. 2.Birthing Centers. 3.Perinatal Care. 4.Maternal Health Services. 5.Infant, Newborn. 6.Quality of Health Care. 7.Checklist. I.World Health Organization. ISBN 978 92 4 154945 5 (NLM classification: WQ 300) © World Health Organization 2015 All rights reserved. Publications of the World Health Organization are available on the WHO web site (www.who.int) or can be purchased from WHO Press, World Health Organization, 20 Avenue Appia, 1211 Geneva 27, Switzerland (tel.: +41 22 791 3264; fax: +41 22 791 4857; e-mail: [email protected]). Requests for permission to reproduce or translate WHO publications—whether for sale or for non-commercial distribution—should be addressed to WHO Press through the WHO website (www.who.int/about/licensing/copyright_form/en/index.html). The designations employed and the presentation of the material in this publication do not imply the expression of any opinion whatsoever on the part of the World Health Organiza- tion concerning the legal status of any country, territory, city or area or of its authorities, or concerning the delimitation of its frontiers or boundaries. Dotted lines on maps represent approximate border lines for which there may not yet be full agreement. The mention of specific companies or of certain manufacturers’ products does not imply that they are endorsed or recommended by the World Health Organization in preference to others of a similar nature that are not mentioned. -
Clinical Spectrum of Glycine Encephalopathy in Indian Children
Clinical Spectrum of Glycine Encephalopathy in Indian children Anil B. Jalan *, Nandan Yardi ** NIRMAN, 203, Nirman Vyapar Kendra, Sector 17, Vashi – Navi-Mumbai, India – 400 705 * Chief Scientific Research Officer (Bio – chemical Genetics) ** Paediatric Neurologist an Epileptologist, Pune. Introduction: NKH is generally considered to be a rare disease, but relatively higher incidences have been reported in Northern Finland, British Columbia and Israel (1,2). Non Ketotic Hyperglycinemia, also known as Glycine Encephalopathy, is an Autosomal recessive disorder of Glycine metabolism caused by a defect in the Glycine cleavage enzyme complex (GCS). GCS is a complex of four proteins and coded on 4 different chromosomes. 1. P – Protein ( Pyridoxal Phosphate containing glycine Decarboxylase, GLDC) -> 80 % cases, [ MIM no. 238300 ] , 2. H – Protein (Lipoic acid containing) – Rare, [MIM no. 238310], 3. T – Protein ( Tetrahydrofolate requiring aminomethyltranferase AMT ) – 15 % cases [ MIM no. 238330], 4. L – Protein (Lipoamide dehydrogenase) – MSUD like picture [MIM no. 238331] (1). In classical NKH, levels of CSF – glycine and the ratio of CSF / Plasma glycine are very high (1). Classically, NKH presents in the early neonatal period with progressive lethargy, hypotonia, myoclonic jerks, hiccups, and apnea, usually leading to total unresponsiveness, coma, and death unless the patient is supported through this stage with mechanical ventilation. Survivors almost invariably display profound neurological disability and intractable seizures. In a minority of NKH cases the presentation is atypical with a later onset and features including seizures, developmental delay and / or regression, hyperactivity, spastic diplegia, spino – cerebeller degeneration, optic atrophy, vertical gaze palsy, ataxia, chorea, and pulmonary hypertension. Atypical cases are more likely to have milder elevations of glycine concentrations (2). -
Utility of the Digital Rectal Examination in the Emergency Department: a Review
The Journal of Emergency Medicine, Vol. 43, No. 6, pp. 1196–1204, 2012 Published by Elsevier Inc. Printed in the USA 0736-4679/$ - see front matter http://dx.doi.org/10.1016/j.jemermed.2012.06.015 Clinical Reviews UTILITY OF THE DIGITAL RECTAL EXAMINATION IN THE EMERGENCY DEPARTMENT: A REVIEW Chad Kessler, MD, MHPE*† and Stephen J. Bauer, MD† *Department of Emergency Medicine, Jesse Brown VA Medical Center and †University of Illinois-Chicago College of Medicine, Chicago, Illinois Reprint Address: Chad Kessler, MD, MHPE, Department of Emergency Medicine, Jesse Brown Veterans Hospital, 820 S Damen Ave., M/C 111, Chicago, IL 60612 , Abstract—Background: The digital rectal examination abdominal pain and acute appendicitis. Stool obtained by (DRE) has been reflexively performed to evaluate common DRE doesn’t seem to increase the false-positive rate of chief complaints in the Emergency Department without FOBTs, and the DRE correlated moderately well with anal knowing its true utility in diagnosis. Objective: Medical lit- manometric measurements in determining anal sphincter erature databases were searched for the most relevant arti- tone. Published by Elsevier Inc. cles pertaining to: the utility of the DRE in evaluating abdominal pain and acute appendicitis, the false-positive , Keywords—digital rectal; utility; review; Emergency rate of fecal occult blood tests (FOBT) from stool obtained Department; evidence-based medicine by DRE or spontaneous passage, and the correlation be- tween DRE and anal manometry in determining anal tone. Discussion: Sixteen articles met our inclusion criteria; there INTRODUCTION were two for abdominal pain, five for appendicitis, six for anal tone, and three for fecal occult blood. -
Chronic Pancreatitis: What the Clinician Want to Know from Mri
HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author Magn Reson Manuscript Author Imaging Clin Manuscript Author N Am. Author manuscript; available in PMC 2019 August 01. Published in final edited form as: Magn Reson Imaging Clin N Am. 2018 August ; 26(3): 451–461. doi:10.1016/j.mric.2018.03.012. CHRONIC PANCREATITIS: WHAT THE CLINICIAN WANT TO KNOW FROM MRI TEMEL TIRKES, M.D. Department of Radiology and Clinical Sciences, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA Keywords Pancreas; Chronic Pancreatitis; Magnetic Resonance Imaging; Magnetic Resonance Cholangiopancreatography; Computerized Tomography INTRODUCTION Chronic pancreatitis (CP) is a low prevalence disease.1–3 In 2006, there were approximately 50 cases of definite CP per 100,000 population in Olmsted County, MN 3, translating to a total of 150,000–200,000 cases in the US population. Clinical features of CP are highly variable and include minimal, or no symptoms of debilitating pain repeated episodes of acute pancreatitis, pancreatic exocrine and endocrine insufficiency and pancreatic cancer. CP profoundly affects the quality of life, which can be worse than other chronic conditions and cancers.4 Natural history studies for CP originated mainly from centers outside the U.S.5−910,11 conducted during the 1960–1990’s and consisted primarily of males with alcoholic CP. Only one large retrospective longitudinal cohort study has been conducted in the US for patients seen at the Mayo Clinic from 1976–1982.12 While these data provide general insights into disease evolution, it is difficult to predict the probability of outcomes or disease progression in individual patients. -
Osteoid-Osteoma
Benign tumors of soft tissues and bones of head at children. Classification, etiology. Diagnostics, differential diagnostics, treatment and rehabilitation of children. Pediatric Surgical Dentistry Lector - Kolisnik I.A. 0504044002 (Viber, Telegram) Plan of lecture and their organizational structure. № The main stages of the Type of lecture. Means of time distribution lecture and activating students. Methodical their content support materials 1. Preparatory stage. look p 1 and 2 5 % definitionrelevance of the topic, learning objectives of the lecture and motivation 2. The main stage. Teaching lectureClinical lecture. 85 % material according to the plan: -90% 1. 1 Frequency of malignant processes of SHLD in children. 2. Phases of carcinogenesis 3. Signs of benign and malignant process. 4. Methods of diagnosis of SHLD tumors. 5. The structure of malignant pathology of the thyroid gland in children. 6. Clinical and morphological features of malignant tumors of the thyroid gland in children. Principles of treatment. 7. Basic principles of rehabilitation of children with oncological pathology. 8. Stages of formation of bone regenerate. 9. Clinical case. 1. The final stage Answers to possible 5 % 2. Lecture summary. questions. 3. General conclusions. Classification of benign neoplasm Type of tissue Type of neoplasm Pavement epithelium Squamous cell papilloma Secretory (glandular) epithelium Adenoma Connective Fibroma Adipose Lipoma Smooth muscle Leiomyoma Osseous Osteoma Cartilaginous Chondroma Lymphoid Lymphoma Transversal striated muscle Rhabdomioma -
A Pediatrician's Guide to Constipation
5/8/2018 Pediatric Upsies, Downsies and Oopsies – Diarrhea and Constipation GLENN DUH, M.D. PEDIATRIC GASTROENTEROLOGY KP DOWNEY (TRI-CENTRAL) I have nothing to disclose Objectives Identify the pertinent history information regarding the symptoms of diarrhea, constipation and rectal bleeding. Identify the “red flags“ associated with symptoms of constipation, and diarrhea and rectal bleeding. Describe indicate the workup/treatment/ management of diarrhea, constipation and rectal bleeding. 1 5/8/2018 First things first…what do you mean by “diarrhea”? Stools too soft or loose? Watery stools? Too much coming out? Undigested food in the stools? Soiling accidents with creamy peanut buttery poop in the underwear? Pooping too many times a day? Waking up at night to defecate? Do not assume that we all use the word the same way! First things first…what do you mean by “constipation”? Stools too hard? Bleeding? No poop for a week? Sits on toilet all day and nothing comes out? Stomachaches? KUB showing colon overstuffed with stuff? Do not assume that we all use the word the same way! It’s kind of gross to talk or think about this… 2 5/8/2018 Yummy… Diarrhea NOW THAT WE’VE LOOSENED THINGS UP A BIT…. What is diarrhea? Definition with numbers 3 or more loose stools a day > 10 mL/kg or > 200 grams of stools per day (not sure how one figures this one in the office) Longer than 14 days – chronic diarrhea The “eyeball” test If it looks like a duck, quacks like a duck, waddles like a duck… It doesn’t look like something else 3 5/8/2018 Acute vs. -
Navigating Home Care: Parenteral Nutrition—Part Two
NUTRITION ISSUES IN GASTROENTEROLOGY, SERIES #11 Series Editor: Carol Rees Parrish, M.S., R.D., CNSD Navigating Home Care: Parenteral Nutrition—Part Two by Gisela Barnadas Parenteral nutrition (PN) is often used for patients who are unable to absorb suffi- cient nutrition through the gastrointestinal tract. PN can be safely administered in the home setting with proper assessment and monitoring of the patient. An interdiscipli- nary team approach is used to identify and avoid potential complications, which may occur. This article provides the physician with specific guidelines for evaluating, ordering and monitoring PN therapy in the home patient. It also addresses financial and reimbursement considerations with emphasis on understanding the often con- fusing, Medicare guidelines. CASE 1 • What resources are available to help manage this JR is a 65-year-old female with vascular disease, patient in the home? hypertension, diabetes and history of a hysterectomy. • What resources are there available for the patient? She presents with severe abdominal pain, vomiting and • Will insurance pay for this? diarrhea. A small bowel series documents a bowel obstruction, most likely due to bowel ischemia. Find- Providing total parenteral nutrition in the home ings during surgical intervention included: twisted, (HPN) is by no means a new treatment option. The gangrenous small bowel with multiple adhesions first record of a patient receiving HPN was a 36-year- resulting in resection of her distal jejunum, ileum and old woman with extensive metastatic ovarian carci- right colon, leaving an intact duodenum, approximately noma in 1968.(1) While the exact number of people 100 cm of the jejunum and most of her left colon. -
Oral Pathology Unmasking Gastrointestinal Disease
Journal of Dental Health Oral Disorders & Therapy Review Article Open Access Oral pathology unmasking gastrointestinal disease Abstract Volume 5 Issue 5 - 2016 Different ggastrointestinal disorders, such as Gastroesophageal Reflux Disease (GERD), Celiac Disease (CD) and Crohn’s disease, may manifest with alterations of the oral cavity Fumagalli LA, Gatti H, Armano C, Caruggi S, but are often under and misdiagnosed both by physicians and dentists. GERD can cause Salvatore S dental erosions, which are the main oral manifestation of this disease, or other multiple Department of Pediatric, Università dell’Insubria, Italy affections involving both hard and soft tissues such as burning mouth, aphtous oral ulcers, Correspondence: Silvia Salvatore, Pediatric Department of erythema of soft palate and uvula, stomatitis, epithelial atrophy, increased fibroblast number Pediatric, Università dell’Insubria, Via F. Del Ponte 19, 21100 in chorion, xerostomia and drooling. CD may be responsible of recurrent aphthous stomatitis Varese, Italy, Tel 0039 0332 299247, Fax 0039 0332 235904, (RAS), dental enamel defects, delayed eruption of teeth, atrophic glossitis and angular Email chelitis. Crohn’s disease can occur with several oral manifestations like indurated tag-like lesions, clobbestoning, mucogingivitis or, less specifically, with RAS, angular cheilitis, Received: October 30, 2016 | Published: December 12, 2016 reduced salivation, halitosis, dental caries and periodontal involvement, candidiasis, odynophagia, minor salivary gland enlargement, perioral -
Guide to Treating Your Child's Daytime Or Nighttime Accidents
A GUIDE TO TREATING YOUR CHILD’S Daytime or Nighttime Accidents, Urinary Tract Infections and Constipation UCSF BENIOFF CHILDREN’S HOSPITALS UROLOGY DEPARTMENT This booklet contains information that will help you understand more about your child’s bladder problem(s) and provides tips you can use at home before your first visit to the urology clinic. www.childrenshospitaloakland.org | www.ucsfbenioffchildrens.org 2 | UCSF BENIOFF CHILDREN’S HOSPITALS UROLOGY DEPARTMENT Table of Contents Dear Parent(s), Your child has been referred to the Pediatric Urology Parent Program at UCSF Benioff Children’s Hospitals. We specialize in the treatment of children with bladder and bowel dysfunction. This booklet contains information that will help you understand more about your child’s problem(s) and tips you can use at home before your first visit to the urology clinic. Please review the sections below that match your child’s symptoms. 1. Stool Retention and Urologic Problems (p.3) (Bowel Dysfunction) 2. Bladder Dysfunction (p.7) Includes daytime incontinence (wetting), urinary frequency and infrequency, dysuria (painful urination) and overactive bladder 3. Urinary Tract Infection and Vesicoureteral Reflux (p. 10) 4. Nocturnal Enuresis (p.12) Introduction (Nighttime Bedwetting) It’s distressing to see your child continually having accidents. The good news is that the problem is very 5. Urologic Tests (p.15) common – even if it doesn’t feel that way – and that children generally outgrow it. However, the various interventions we offer can help resolve the issue sooner THIS BOOKLET ALSO CONTAINS: rather than later. » Resources for Parents (p.16) » References (p.17) Childhood bladder and bowel dysfunction takes several forms. -
Neurology and the Gastrointestinal System
J Neurol Neurosurg Psychiatry 1998;65:291–300 291 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.65.3.291 on 1 September 1998. Downloaded from NEUROLOGY AND MEDICINE Neurology and the gastrointestinal system G D Perkin, I Murray-Lyon The interrelation of neurology and the gas- that the two techniques are complementary, trointestinal system includes defects of gut acetylcholinesterase staining being particularly innervation, primary disorders of the nervous helpful when the biopsy material does not system (or muscle) which lead to gastrointesti- include submucosa, or in older infants or chil- nal symptoms—for example, dysphagia—and, dren in whom the population of distal submu- finally, certain gut disorders which include cosal ganglion cells may be less dense.6 neurological features in their clinical range. The first of this trio will be discussed only Gastrointestinal disorders due to briefly in this review, the second and third in neurological disease more detail. DYSPHAGIA A neurogenic mechanism for dysphagia, which Defects of innervation may have either sensory or motor components, ACHALASIA or both, can result from a disorder at the oral, Achalasia is characterised by an absence of pharyngeal, or oesophageal phase of swallow- peristalsis in the oesophageal body accompa- ing. In most patients, the neurological disorder nied by a failure of relaxation of the lower is evident, but in others, dysphagia is the oesophageal sphincter.1 Although the condi- presenting feature. Besides the dysphagia, tion can be secondary to other disease other symptoms suggesting a neurogenic copyright. processes—for example, Chagas’ disease—in mechanism include drooling of saliva, nasal Europeans it is usually a primary disorder.