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https://www.readbyqxmd.com/read/28100251/consensus-guideline-for-the-diagnosis-and-treatment-of-aromatic-l-amino-acid-decarboxylase-aadc-deficiency
#1
REVIEW
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28067735/migraine-with-aura-or-sports-related-concussion-case-report-pathophysiology-and-multidisciplinary-approach-to-management
#2
Michael J Ellis, Dean Cordingley, Richard Girardin, Lesley Ritchie, Janine Johnston
The evaluation and management of athletes presenting with clinical features of migraine headache with aura in the setting of sports-related head trauma is challenging. We present a case report of a 15-yr-old boy with a history of migraine with visual aura that developed acute visual disturbance and headache after a head injury during an ice hockey game. The patient underwent comprehensive assessment at a multidisciplinary concussion program, including neuro-ophthalmological examination, neurocognitive testing, and graded aerobic treadmill testing...
January 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/28060325/interictal-high-frequency-oscillations-detected-with-simultaneous-magnetoencephalography-and-electroencephalography-as-biomarker-of-pediatric-epilepsy
#3
Christos Papadelis, Eleonora Tamilia, Steven Stufflebeam, Patricia E Grant, Joseph R Madsen, Phillip L Pearl, Naoaki Tanaka
Crucial to the success of epilepsy surgery is the availability of a robust biomarker that identifies the Epileptogenic Zone (EZ). High Frequency Oscillations (HFOs) have emerged as potential presurgical biomarkers for the identification of the EZ in addition to Interictal Epileptiform Discharges (IEDs) and ictal activity. Although they are promising to localize the EZ, they are not yet suited for the diagnosis or monitoring of epilepsy in clinical practice. Primary barriers remain: the lack of a formal and global definition for HFOs; the consequent heterogeneity of methodological approaches used for their study; and the practical difficulties to detect and localize them noninvasively from scalp recordings...
December 6, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28052805/hypereosinophilic-syndrome
#4
Heung R Noh, Gil G Magpantay
BACKGROUND: Hypereosinophilic syndrome (HES) is a myeloproliferative disorder characterized by persistent eosinophilia associated with multiple organ damage. OBJECTIVE: To increase awareness of the rare but potentially life-threatening disease and to provide a brief overview of the clinical presentation, diagnosis, and management of HES. METHODS: Pertinent data from the patient's clinical course was incorporated with salient articles on the topic...
January 1, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28042819/retroareolar-carcinomas-in-breast-ultrasound-pearls-and-pitfalls
#5
REVIEW
Romuald Ferré, Martine Paré, Lisa Smith, Mélanie Thériault, Ann Aldis, Ellen Kao, Benoit Mesurolle
Breast Ultrasound (US) is an important tool for both screening and diagnostic examinations. Although breast US has benefitted from significant recent technical improvements, its use for the retroareolar region is known to be more challenging than for other locations. The retroareolar location was defined by Giess et al. in 1998 as the region where any lesion is situated at less than two cm from the nipple and/or involves the nipple-areolar complex on mammogram. Understanding of the complex anatomy and physiology of the nipple-areolar region is important to avoid misinterpretation and misdiagnosis...
December 30, 2016: Cancers
https://www.readbyqxmd.com/read/28041320/image-guided-resection-of-aggressive-sacral-tumors
#6
Doniel Drazin, Neil Bhamb, Lutfi T Al-Khouja, Ari D Kappel, Terrence T Kim, J Patrick Johnson, Earl Brien
OBJECTIVE The aim of this study was to identify and discuss operative nuances utilizing image guidance in the surgical management of aggressive sacral tumors. METHODS The authors report on their single-institution, multi-surgeon, retrospective case series involving patients with pathology-proven aggressive sacral tumors treated between 2009 and 2016. They also reviewed the literature to identify articles related to aggressive sacral tumors, their diagnosis, and their surgical treatment and discuss the results together with their own experience...
January 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28031645/shining-pearls-sign-a-new-identity-for-venous-malformations-on-computed-tomographic-imaging
#7
Venkatraman Bhat, Varun Bhat
Vascular malformations, in particular venous malformations (VM), are common lesions involving the pediatric and adolescent population. VM occur at approximately 1:5,000 to 10,000; approximately 40% of them occur in the head and neck regions. Classical appearance of VM on imaging is a demonstration of near-normal-sized or mildly dilated feeding arteries which subsequently lead to dilated venous structures of varying caliber, thus constituting the malformation. Phleboliths are the hallmark of VM. Plain radiography has been an established modality for demonstrating phleboliths...
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28019007/proposed-revised-nomenclature-for-transfusion-related-acute-lung-injury
#8
Pearl Toy, Steven H Kleinman, Mark R Looney
A decade ago, definitions of "transfusionߚrelated acute lung injury (TRALI)" and "possible TRALI" were standardized for research and clinical diagnosis. Since then, evidence has confirmed that TRALI is often due to transfusion of white blood cell antibodies to at-risk patients, and the term "TRALI, antibody mediated" is appropriate for such cases. Other TRALI cases are non-antibody mediated. Because specific, nonantibody transfusion factors have not yet been confirmed to cause TRALI in humans, the general term "TRALI, non-antibody mediated" is appropriate for such cases...
December 26, 2016: Transfusion
https://www.readbyqxmd.com/read/28004970/intraabdominal-lymphatic-malformations-pearls-and-pitfalls-of-diagnosis-and-differential-diagnoses-in-pediatric-patients
#9
Michael L Francavilla, Candace L White, Brandon Oliveri, Edward Y Lee, Ricardo Restrepo
OBJECTIVE: The purpose of this article is to review the practical imaging workup and characteristic imaging appearances of intraabdominal lymphatic malformations (LMs) in the pediatric population with a brief discussion of some common differential diagnoses found in a vascular anomaly clinic. CONCLUSION: LMs are uncommon pediatric lesions. Because of their rarity among LMs overall, a tendency to present later in life than superficial LMs, and often incidental identification, intraabdominal LMs pose a particular diagnostic challenge, and pathologic entities that are more prevalent must be carefully excluded first...
December 22, 2016: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/27931306/idiopathic-cd4-lymphocytopenia
#10
Joel P Brooks, Gisoo Ghaffari
BACKGROUND: Idiopathic CD4 lymphocytopenia (ICL) is a rare disorder of unknown etiology. Diagnostic criteria include a persistent CD4 T-cell lymphopenia with no underlying primary or secondary immune deficiencies and a CD4 T-cell count of 300 cells/mL or 20% total lymphocyte on multiple occasions. OBJECTIVE: To increase awareness of ICL and to provide a review of the clinical characteristics, diagnosis, and management of this disease process. Presently, many of these patients receive prophylactic treatment similar to other T-cell deficient conditions, most notably patients with human immunodeficiency virus (HIV) or acquired immunodeficiency syndrome; however, the same indications may not necessarily apply to this patient population because the T cells are not affected by a virus as in HIV...
November 2016: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/27920677/subungual-squamous-cell-carcinoma-the-diagnostic-challenge-and-clinical-pearls
#11
Wai Leong Kok, Joyce Siong See Lee, Martin Tze-Wei Chio
Subungual squamous cell carcinoma is a rare entity and difficult to diagnose as its clinical presentation may resemble benign conditions. This case report highlights the need to maintain a high clinical index of suspicion, and recommends a practical approach for subungual conditions. Dermoscopy and a biopsy for histology are important adjuncts to clinch the diagnosis.
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27896657/performing-the-difficult-cholecystectomy-using-combined-endoscopic-and-robotic-techniques-how-i-do-it
#12
Deepa Magge, Jennifer Steve, Stephanie Novak, Adam Slivka, Mellissa Hogg, Amer Zureikat, Herbert J Zeh
Laparoscopic cholecystectomy is the standard of care for cholelithiasis as well as cholecystitis. However, in the setting of Mirizzi syndrome or gangrenous cholecystitis where the critical view cannot be ascertained, subtotal cholecystectomy may be necessary. Using the robot-assisted approach, difficult cholecystectomies can be performed upfront without need for partial cholecystectomy. Even in the setting of Mirizzi syndrome where severe scarring and fibrosis are evident, definitive cholecystectomy and takedown of the cholechystocholedochal fistula can be performed in a safe and feasible fashion following successful endoscopic common bile duct stent placement...
November 28, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/27896385/pictorial-review-the-pearls-and-pitfalls-of-the-radiological-manifestations-of-gallstone-ileus
#13
REVIEW
Phei Shan Chuah, John Curtis, Nikhil Misra, Dina Hikmat, Sumita Chawla
We present a pictorial review of a range of typical and atypical cases of gallstone ileus (GI), across a wide range of imaging modalities. GI is a complication of gallstone disease causing mechanical intestinal obstruction due to impaction of gallstone in the gastrointestinal tract. The spectrum of presentation can vary enormously, and we highlight the importance of accurate imaging diagnosis of GI especially early use of computed tomography. This will lead to timely and appropriate surgical intervention with the potential avoidance of unnecessary outcomes...
November 28, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27875758/beyond-the-lymph-nodes-fdg-pet-ct-in-primary-extranodal-lymphoma
#14
REVIEW
Kin Man Sin, Stanton King Dat Ho, Brian Yung Kong Wong, Harry Gill, Pek-Lan Khong, Elaine Yuen Phin Lee
Extranodal lymphoma can be the primary presentation or secondary to systemic involvement of lymphoma. 2-(fluorine-18) fluoro-2-deoxy-d-glucose positron emission tomography with computer tomography (FDG-PET/CT) is useful in detecting extranodal sites during staging, treatment response assessment or recurrence detection in patients with lymphoma. In this article, we reviewed the imaging features and FDG avidity of primary extranodal lymphoma of various organs and systems on FDG-PET/CT, demonstrating the pearls and pitfalls of FDG-PET/CT in evaluating this disease entity and cross-referencing to other imaging modalities that aid in diagnosis and management...
November 16, 2016: Clinical Imaging
https://www.readbyqxmd.com/read/27857794/a-rare-case-of-white-pearls-in-brainstem
#15
Dipanker Singh Mankotia, Vivek Tandon, Hardik Sardana, Madhu Rajeshwari, Vaishali Suri, Bhawani Shankar Sharma
Intrinsic brainstem epidermoid is extremely rare, and only 14 cases have been reported. Authors report a classic case of brainstem epidermoid in a 14-year-old male child presenting with symptoms of brainstem involvement. The child underwent a successful surgical excision. The lesion was intrinsic and caused diagnostic dilemma based on conventional radiological images. Based on our experience in this case and a thorough review of literature, we are of the opinion that diffusion-weighted images are very important in establishing the diagnosis...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857455/imaging-in-spinal-posterior-epidural-space-lesions-a-pictorial-essay
#16
Foram B Gala, Yashant Aswani
Spinal epidural space is a real anatomic space located outside the dura mater and within the spinal canal extending from foramen magnum to sacrum. Important contents of this space are epidural fat, spinal nerves, epidural veins and arteries. Due to close proximity of posterior epidural space to spinal cord and spinal nerves, the lesions present with symptoms of radiculopathy and/or myelopathy. In this pictorial essay, detailed anatomy of the posterior epidural space, pathologies affecting it along with imaging pearls to accurately diagnose them are discussed...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27843094/metabolomics-predicts-neuroimaging-characteristics-of-transient-ischemic-attack-patients
#17
Francisco Purroy, Serafi Cambray, Gerard Mauri-Capdevila, Mariona Jové, Jordi Sanahuja, Joan Farré, Ikram Benabdelhak, Jessica Molina-Seguin, Laura Colàs-Campàs, Robert Begue, M Isabel Gil, Reinald Pamplona, Manuel Portero-Otín
BACKGROUND: Neuroimaging is essential for the diagnosis and prognosis of transient ischemic attack (TIA). The discovery of a plasmatic biomarker related to neuroimaging findings is of enormous interest because, despite its relevance, magnetic resonance diffusion weighted imaging (DWI) is not always available in all hospitals that attend to TIA patients. METHODS: Metabolomic analyses were performed by liquid chromatography coupled to mass spectrometry in order to establish the metabolomic patterns of positive DWI, DWI patterns and acute ischemic lesion volumes...
December 2016: EBioMedicine
https://www.readbyqxmd.com/read/27815844/incidence-and-geographic-distribution-of-succinic-semialdehyde-dehydrogenase-ssadh-deficiency
#18
Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N Goswami, Naveen Sankhyan, Gajja S Salomons, Jean-Baptiste Roullett, Ryan Hodgeman, Mahsa Parviz, K Michael Gibson, Phillip L Pearl
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27787648/cerebrofacial-arteriovenous-metameric-syndrome-cams-a-spectrum-disorder-of-craniofacial-vascular-malformations
#19
Lauren O'Loughlin, Mari L Groves, Neil R Miller, Monica S Pearl
Cerebrofacial arteriovenous metameric syndrome (CAMS) is a recent classification of vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. Recognizing the embryologic basis of CAMS is important for diagnosing other AVMs along the same metameric level. Visual loss is the most common presentation prompting ophthalmologic evaluation followed by neuroimaging. We present two pediatric patients with ipsilateral optic nerve and chiasmal AVMs without cutaneous manifestations, characteristic of CAMS 2...
October 27, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27786246/hiv-associated-opportunistic-cns-infections-pathophysiology-diagnosis-and-treatment
#20
REVIEW
Lauren N Bowen, Bryan Smith, Daniel Reich, Martha Quezado, Avindra Nath
Nearly 30 years after the advent of antiretroviral therapy (ART), CNS opportunistic infections remain a major cause of morbidity and mortality in HIV-positive individuals. Unknown HIV-positive disease status, antiretroviral drug resistance, poor drug compliance, and recreational drug abuse are factors that continue to influence the morbidity and mortality of infections. The clinical and radiographic pattern of CNS opportunistic infections is unique in the setting of HIV infection: opportunistic infections in HIV-positive patients often have characteristic clinical and radiological presentations that can differ from the presentation of opportunistic infections in immunocompetent patients and are often sufficient to establish the diagnosis...
October 27, 2016: Nature Reviews. Neurology
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