View the 2019 Index
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Developmental Venous Anomaly: MR and Angiographic Features
JBR–BTR, 2014, 97: 17-20. DEVELOPMENTAL VENOUS ANOMALY: MR AND ANGIOGRAPHIC FEATURES M. Faure1, M. Voormolen1, T. Van der Zijden1, P.M. Parizel1 Developmental venous anomaly (DVA) is probably the most common anomaly of the intracranial vasculature. DVAs consist of multiple, radially oriented dilated medullary veins that converge into a transcerebral vein. We describe the imaging findings of this vascular anomaly in different patients and the role of different imaging modalities. Key-words: Cerebral blood vessels, abnormalities – Cerebral blood vessels, MR – Cerebral angiography. Developmental venous anomaly (DVA) was first considered a rare vascular malformation (1, 2). Nowa- days, with the advent of Computed Tomography (CT) and especially Magnetic Resonance Imaging (MRI), DVAs are seen every week to month by radiologists (3, 4). Most DVAs are solitary, asymptomatic lesions and are discovered incidentally. They have a relatively benign nature with a low incidence of hemorrhage. When they do bleed, this is thought to be due to associated vascular mal- formations, like cavernous angiomas. The typical angiographic appearance of a DVA is a caput medusae appear- ance in the venous phase. MRI com- bined with MR angiography (MRA) replaces angiography in most un- A B complicated cases as a non-invasive alternative (3, 5). Case reports Case 1 A 32-year-old woman presented with headache, with no particular location and no neurological deficit. MRI of the brain was made in another hospital that showed a flow void running transcerebral, suggestive for a vascular malformation (Fig. 1A,B). Initially, there was no gadolinium contrast given and an arterial feeder could thus not be excluded with MRI. -
Pediatrics-EOR-Outline.Pdf
DERMATOLOGY – 15% Acne Vulgaris Inflammatory skin condition assoc. with papules & pustules involving pilosebaceous units Pathophysiology: • 4 main factors – follicular hyperkeratinization with plugging of sebaceous ducts, increased sebum production, Propionibacterium acnes overgrowth within follicles, & inflammatory response • Hormonal activation of pilosebaceous glands which may cause cyclic flares that coincide with menstruation Clinical Manifestations: • In areas with increased sebaceous glands (face, back, chest, upper arms) • Stage I: Comedones: small, inflammatory bumps from clogged pores - Open comedones (blackheads): incomplete blockage - Closed comedones (whiteheads): complete blockage • Stage II: Inflammatory: papules or pustules surrounded by inflammation • Stage III: Nodular or cystic acne: heals with scarring Differential Diagnosis: • Differentiate from rosacea which has no comedones** • Perioral dermatitis based on perioral and periorbital location • CS-induced acne lacks comedones and pustules are in same stage of development Diagnosis: • Mild: comedones, small amounts of papules &/or pustules • Moderate: comedones, larger amounts of papules &/or pustules • Severe: nodular (>5mm) or cystic Management: • Mild: topical – azelaic acid, salicylic acid, benzoyl peroxide, retinoids, Tretinoin topical (Retin A) or topical antibiotics [Clindamycin or Erythromycin with Benzoyl peroxide] • Moderate: above + oral antibiotics [Minocycline 50mg PO qd or Doxycycline 100 mg PO qd], spironolactone • Severe (refractory nodular acne): oral -
Repercussions of Inborn Errors of Immunity on Growth☆ Jornal De Pediatria, Vol
Jornal de Pediatria ISSN: 0021-7557 ISSN: 1678-4782 Sociedade Brasileira de Pediatria Goudouris, Ekaterini Simões; Segundo, Gesmar Rodrigues Silva; Poli, Cecilia Repercussions of inborn errors of immunity on growth☆ Jornal de Pediatria, vol. 95, no. 1, Suppl., 2019, pp. S49-S58 Sociedade Brasileira de Pediatria DOI: https://doi.org/10.1016/j.jped.2018.11.006 Available in: https://www.redalyc.org/articulo.oa?id=399759353007 How to cite Complete issue Scientific Information System Redalyc More information about this article Network of Scientific Journals from Latin America and the Caribbean, Spain and Journal's webpage in redalyc.org Portugal Project academic non-profit, developed under the open access initiative J Pediatr (Rio J). 2019;95(S1):S49---S58 www.jped.com.br REVIEW ARTICLE ଝ Repercussions of inborn errors of immunity on growth a,b,∗ c,d e Ekaterini Simões Goudouris , Gesmar Rodrigues Silva Segundo , Cecilia Poli a Universidade Federal do Rio de Janeiro (UFRJ), Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil b Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Curso de Especializac¸ão em Alergia e Imunologia Clínica, Rio de Janeiro, RJ, Brazil c Universidade Federal de Uberlândia (UFU), Faculdade de Medicina, Departamento de Pediatria, Uberlândia, MG, Brazil d Universidade Federal de Uberlândia (UFU), Hospital das Clínicas, Programa de Residência Médica em Alergia e Imunologia Pediátrica, Uberlândia, MG, Brazil e Universidad del Desarrollo, -
Cytology of Myeloma Cells
J Clin Pathol: first published as 10.1136/jcp.29.10.916 on 1 October 1976. Downloaded from J. clin. Path., 1976, 29, 916-922 Cytology of myeloma cells F. G. J. HAYHOE AND ZOFIA NEUMAN1 From the Department of Haematological Medicine, Cambridge University SYNOPSIS A cytological, cytochemical, and cytometric study of plasma cells from 195 cases of multiple myeloma showed that, contrary to earlier reports, flaming cells, thesaurocytes, and intra- nuclear inclusions are not confined to IgA-secreting cases but are common also in IgG and Bence Jones varieties of myeloma. IgA-secreting cells are not larger, nor do they have a lower nuclear- cytoplasmic ratio than other myeloma cells. On average, for a given mass of tumour, Bence-Jones, IgG, and IgA varieties of myeloma produce amounts of paraprotein in the ratio 1 to 1 6 to 2-7. In 1961 Paraskevas et al reported a correlation the results of a larger scale survey carried out some between the morphological features of plasma cells years ago but previously unpublished. in myeloma and the type of immunoglobulin secreted. The cases studied included 12 with y1A Material and methods (f2A, IgA) myeloma, 30 with y (IgG) myeloma, and six myelomas without M protein (probably Bence The study was performed on bone marrow smearscopyright. Jones myelomas). Flaming cells, thesaurocytes, and from 200 consecutive patients newly entered into a intranuclear, PAS-positive inclusion bodies were comparative trial of treatments in myeloma, under found only in cases of IgA myeloma, and flaming the auspices of the Medical Research Council. Five cells especially were present in most cases and in patients were subsequently excluded as not confirmed high percentage in several. -
Aortic Thrombus Causing a Hypertensive Emergency
CASE REPORT Aortic Thrombus Causing a Hypertensive Emergency Kraftin E. Schreyer, MD*† *Temple University Hospital, Department of Emergency Medicine, Philadelphia, Jenna Otter, MD* Pennsylvania Zachary Johnston, BS† †Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania Section Editor: Rick A. McPheeters, DO Submission history: Submitted February 9, 2017; Revision received June 27, 2017; Accepted June 28, 2017 Electronically published November 3, 2017 Full text available through open access at http://escholarship.org/uc/uciem_cpcem DOI: 10.5811/cpcem.2017.6.33876 Thoracic aorta thrombi are a rare condition typically presenting as a source for distal embolization in elderly patients with atherosclerotic risk factors. However, young patients with a variety of presentations resulting from such thrombi have rarely been reported. We describe a case of a young patient with refractory hypertensive emergency caused by a large thoracic aorta thrombus. Investigation was guided by abnormal physical exam findings. [Clin Pract Cases Emerg Med.2017;1(4):387–390.] INTRODUCTION supine positioning. It had progressively worsened over the Thoracic aorta thrombi are exceedingly rare. When they course of one day and was associated with chest pain, do occur, they typically present as a source of distal subjective fever, and cough productive of blood-tinged embolization, clinically resulting in stroke, transient sputum. According to the patient, he had experienced similar ischemic attack, or arterial embolization of an extremity. symptoms when he was diagnosed with PJP pneumonia. Diagnosis of thoracic aorta thrombi is often made in older On initial exam, the patient had a blood pressure (BP) of patients with atherosclerotic risk factors or known 247/128 mmHg, pulse of 135 beats per minute, and an aneurysmal or atherosclerotic disease.1,2 Thrombi have also oxygen saturation of 86% on room air. -
Venous Angiomas of the Brain A
- REVIEW ARTICLE systems," Venous angiomas may be Venous angiomas of quite small, draining a limited region of the brain, or may be very large, the brain a sometimes draining an entire hemi- • sphere. They can be single or multi- ple, and even bilateral.P" The com- review monest sites of occurrence are in the frontal and parietal lobes of the cere- venous anomaly' or DVA, pointing bral hemispheres and in the cerebel- Ian C Duncan out that these abnormalities actual- Ium.':" They can also be found in the ly represented an extreme anatomi- FFRad(D)SA occipital and temporal lobes, basal cal variant of the normal venous ganglia and pons." Unitas Interventional Unit POBox 14031 drainage of the brain. Lytlelton Imaging 0140 Pathology The classical radiographic appear- The theory of the development of ance of these abnormalities accurately venous angiomas is that there is fail- reflects the anatomical picture with Introduction ure of regression of normal embryon- multiple enlarged transmedullary Venous angiomas of the brain, also ic transmedullary venous channels. veins radiating in a wedge or radial termed venous malformations or These persistent transmedullary veins pattern toward the larger collecting developmental venous anomalies run axially through the white matter vein producing the pathognomic (DVA) are commonest of the to drain into a single larger calibre col- 'caput medusae' or 'spoke wheel' intracranial vascular malformations lecting venous trunk. The dilated ter- appearance during the venous phase comprising between 50% and 63% of minal collecting vein then penetrates of a cerebral angiogram (Figs 1,2).14,15 all intracranial vascular malforma- the cortex to drain either superficially A similar appearance is often seen on tions. -
Evidence-Based Practice Center Systematic Review Protocol
Evidence-based Practice Center Systematic Review Protocol Project Title: Serum-Free Light Chain Analysis for the Diagnosis, Management, and Prognosis of Plasma Cell Dyscrasias I. Background and Objectives for the Systematic Review Plasma cell dyscrasias (PCDs) are a spectrum of disorders characterized by the expansion of a population of monoclonal bone-marrow plasma cells that produce monoclonal immunoglobulins.1 At the benign end of the spectrum is monoclonal gammopathy of undetermined significance (MGUS), where the plasma-cell clone usually does not expand. Multiple myeloma (MM) is a plasma cell disorder at the malignant end of the spectrum and is characterized by the neoplastic proliferation of a clone of plasma cells in the bone marrow with resulting end-organ damage, including skeletal destruction (lytic bone lesions), hypercalcemia, anemia, and renal insufficiency. Whereas monoclonal plasma cells generally secrete intact immunoglobulin, in about 20 percent of patients with MM these cells only produce light-chain monoclonal proteins (i.e., light-chain multiple myeloma [LCMM], formerly known as Bence Jones myeloma) and in 3 percent of patients they secrete neither light- nor heavy-chain monoclonal proteins that are detectable by immunofixation (i.e., nonsecretory multiple myeloma [NSMM]).1 In two-thirds of patients with NSMM, a monoclonal protein can be identified by the serum-free light chain (SFLC) assay. Patients with LCMM develop complications related to tissue deposition of light chains, including amyloidosis. Amyloid light-chain (AL) amyloidosis is the most common form of systemic amyloidosis seen in the United States and is characterized by a relatively stable, slow-growing plasma-cell clone that secretes light-chain proteins that form Table 1: Diagnostic criteria and clinical course of selected plasma cell dyscrasias (PCDs)2 Disorder Disease Definition Clinical Course Monoclonal gammopathy of . -
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct. -
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. -
Advanced Imaging
CLINICAL APPROPRIATENESS GUIDELINES ADVANCED IMAGING Appropriate Use Criteria: Imaging of the Brain ARCHIVED SEPTEMBER 28, 2019 These documents have been archived because they have outdated information. They are for historical information only and should not be consulted for clinical use. Current versions of guidelines are available on the AIM Specialty Health website at http://www.aimspecialtyhealth.com/ EFFECTIVE MARCH 9, 2019 Proprietary Approval and implementation dates for specific health plans may vary. Please consult the applicable health plan for more details. AIM Specialty Health disclaims any responsibility for the completeness or accuracy of the information contained herein. 8600 West Bryn Mawr Avenue Appropriate.Safe.Affordable South Tower – Suite 800 Chicago, IL 60631 © 2017 ©©©© 2019 AIM Specialty Health www.aimspecialtyhealth.com 2057-0319 Imaging of the Brain Table of Contents Description and Application of the Guidelines .......................................................................................................... 4 General Clinical Guideline ........................................................................................................................................... 5 Clinical Appropriateness Framework .................................................................................................................... 5 Simultaneous Ordering of Multiple Diagnostic or Therapeutic Interventions .................................................... 5 Repeat Diagnostic Intervention ............................................................................................................................. -
A Novel De Novo 20Q13.32&Ndash;Q13.33
Journal of Human Genetics (2015) 60, 313–317 & 2015 The Japan Society of Human Genetics All rights reserved 1434-5161/15 www.nature.com/jhg ORIGINAL ARTICLE Anovelde novo 20q13.32–q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass Meena Balasubramanian1, Edward Atack2, Kath Smith2 and Michael James Parker1 Interstitial deletions of the long arm of chromosome 20 are rarely reported in the literature. We report a 2-year-old child with a 2.6 Mb deletion of 20q13.32–q13.33, detected by microarray-based comparative genomic hybridization, who presented with poor growth, feeding difficulties, abnormal subcutaneous fat distribution with the lack of adipose tissue on clinical examination, facial dysmorphism and low bone mass. This report adds to rare publications describing constitutional aberrations of chromosome 20q, and adds further evidence to the fact that deletion of the GNAS complex may not always be associated with an Albright’s hereditary osteodystrophy phenotype as described previously. Journal of Human Genetics (2015) 60, 313–317; doi:10.1038/jhg.2015.22; published online 12 March 2015 INTRODUCTION resuscitation immediately after birth and Apgar scores were 9 and 9 at 1 and Reports of isolated subtelomeric deletions of the long arm of 10 min, respectively, of age. Birth parameters were: weight ~ 1.56 kg (0.4th–2nd chromosome 20 are rare, but a few cases have been reported in the centile), length ~ 40 cm (o0.4th centile) and head circumference ~ 28.2 cm o fi literature over the past 30 years.1–13 Traylor et al.12 provided an ( 0.4th centile). -
Hypertensive Emergency
Presentation of hypertensive emergency Definitions surrounding hypertensive emergency Hypertension: elevated blood pressure (BP), usually defined as BP >140/90; pathological both in isolation and in association with other cardiovascular risk factors Severe hypertension: systolic BP (SBP) >200 mmHg and/or diastolic BP (DBP) >120 mmHg Hypertensive urgency: severe hypertension with no evidence of acute end organ damage Hypertensive emergency: severe hypertension with evidence of acute end organ damage Malignant/accelerated hypertension: a hypertensive emergency involving retinal vascular damage Causes of hypertensive emergency Usually inadequate treatment and/or poor compliance in known hypertension, the causes of which include: Essential hypertension o Age o Family history o Salt o Alcohol o Caffeine o Smoking o Obesity Secondary hypertension o Renal . Renal artery stenosis . Glomerulonephritis . Chonic pyelonephritis . Polycystic kidney disease o Endocrine . Cushing’s syndrome . Conn’s syndrome . Acromegaly . Hyperthyroidism . Phaeochromocytoma o Arterial . Coarctation of the aorta o Drugs . Alcohol . Cocaine . Amphetamines o Pregnancy . Pre-eclamplsia Pathophysiology of hypertensive emergency Abrupt rise in systemic vascular resistance Failure of normal autoregulatory mechanisms Fibrinoid necrosis of arterioles Damage to red blood cells from fibrin deposits causing microangiopathic haemolytic anaemia Microscopic haemorrhage Macroscopic haemorrhage Clinical features of hypertensive emergency Hypertensive encephalopathy o