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https://www.readbyqxmd.com/read/28222436/recurrent-angioedema-occurrence-features-and-concomitant-diseases-in-an-italian-single-center-study
#1
Paola Triggianese, Maria Domenica Guarino, Chiara Pellicano, Mauro Borzi, Elisabetta Greco, Stella Modica, Caterina De Carolis, Roberto Perricone
BACKGROUND: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. METHODS: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated...
February 22, 2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28222095/delays-and-loss-to-follow-up-before-treatment-of-drug-resistant-tuberculosis-following-implementation-of-xpert-mtb-rif-in-south-africa-a-retrospective-cohort-study
#2
Helen Cox, Lindy Dickson-Hall, Norbert Ndjeka, Anja Van't Hoog, Alison Grant, Frank Cobelens, Wendy Stevens, Mark Nicol
BACKGROUND: South Africa has a large burden of rifampicin-resistant tuberculosis (RR-TB), with 18,734 patients diagnosed in 2014. The number of diagnosed patients has increased substantially with the introduction of the Xpert MTB/RIF test, used for tuberculosis (TB) diagnosis for all patients with presumptive TB. Routine aggregate data suggest a large treatment gap (pre-treatment loss to follow-up) between the numbers of patients with laboratory-confirmed RR-TB and those reported to have started second-line treatment...
February 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#3
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28220747/three-cases-of-neurologic-syndrome-caused-by-donor-derived-microsporidiosis
#4
Rachel M Smith, Atis Muehlenbachs, Joanna Schaenmann, Sanjiv Baxi, Sophia Koo, Dianna Blau, Peter Chin-Hong, Anna R Thorner, Matthew J Kuehnert, Kristina Wheeler, Alexis Liakos, Jonathan W Jackson, Theresa Benedict, Alexandre J da Silva, Jana M Ritter, Dominique Rollin, Maureen Metcalfe, Cynthia S Goldsmith, Govinda S Visvesvara, Sridhar V Basavaraju, Sherif Zaki
In April 2014, a kidney transplant recipient in the United States experienced headache, diplopia, and confusion, followed by neurologic decline and death. An investigation to evaluate the possibility of donor-derived infection determined that 3 patients had received 4 organs (kidney, liver, heart/kidney) from the same donor. The liver recipient experienced tremor and gait instability; the heart/kidney and contralateral kidney recipients were hospitalized with encephalitis. None experienced gastrointestinal symptoms...
March 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#5
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28217872/craniosynostosis-delayed-closure-of-the-fontanelle-anal-genitourinary-and-skin-abnormalities-cdags-syndrome-first-report-in-a-mexican-patient-and-review-of-the-literature
#6
Rodrigo Pastrana-Ayala, Gretty L Peña-Castro, Adriana M Valencia-Herrera, Carlos A Mena-Cedillos, Sonia Toussaint-Caire, Yumiko I Akaki-Carreño, Constanza García-Delgado, Veronica F Morán-Barroso, Mirna Toledo-Bahena
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28216236/elimination-of-false-reactivity-results-in-a-commercially-available-west-nile-virus-igm-capture-enzyme-linked-immunosorbent-assay-by-heterophilic-antibody-blocking-reagents
#7
Harry E Prince, Mary Lapé-Nixon, Tara S Givens, Tiffany Bradshaw, Marek J Nowicki
All sera initially reactive in the Focus Diagnostics West Nile virus IgM capture enzyme-linked immunosorbent assay (WNV IgM ELISA) must be retested with background subtraction to identify falsely-reactive (FR) samples due to antibodies that bind to immunoglobulins of other animal species (heterophilic antibodies). In some settings, such as pre-transplant testing of organ donors, the reporting delay associated with retesting can have an adverse impact on donor procurement and organ placement. We sought to determine if inclusion of heterophilic antibody blockers in assay conjugate could eliminate the nonspecific reactivity of FR samples...
February 16, 2017: Journal of Immunological Methods
https://www.readbyqxmd.com/read/28215907/spinal-arteriovenous-fistulas-in-adults-management-of-a-series-of-patients-treated-at-a-neurology-department
#8
G Ortega-Suero, J Porta Etessam, M Moreu Gamazo, G Rodríguez-Boto
OBJECTIVE: Spinal arteriovenous fístulas (SAVF), a rare type of vascular malformation, account for 3% of all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVF pose a major diagnostic challenge. Our purpose was to evaluate the clinical characteristics of SAVF and review their progress after treatment to determine whether it may be too late for treatment in some cases. METHODS: We present a retrospective series of 10 patients diagnosed with SAVF and treated at a tertiary hospital during a 3-year period...
February 16, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28215602/clostridium-difficile-infection-in-acute-flares-of-inflammatory-bowel-disease-a-prospective-study
#9
Harry Sokol, Valérie Lalande, Cecilia Landman, Anne Bourrier, Isabelle Nion-Larmurier, Sylvie Rajca, Julien Kirchgesner, Philippe Seksik, Jacques Cosnes, Frédéric Barbut, Laurent Beaugerie
OBJECTIVES: Clostridium difficile infection (CDI) is a common complication in inflammatory bowel disease (IBD) and has been associated with poor IBD outcome. The aims of our study were to look for predictive factors of CDI in patients hospitalized for IBD flare and to evaluate a rapid testing strategy in this population. METHODS: Consecutive patients hospitalized for IBD flare in Saint-Antoine Hospital (Paris, France) were prospectively tested for CDI with a defined strategy involving rapid testing and reference methods...
January 30, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28215428/glioblastoma-presenting-as-spontaneous-intracranial-haemorrhage-case-report-and-review-of-the-literature
#10
REVIEW
Danica M Joseph, Anthea H O'Neill, Ronil V Chandra, Leon T Lai
Glioblastoma (GB) classically presents with symptoms of raised intracranial pressure and gradual progressive neurological deficits. An acute presentation, with intracerebral haemorrhage (ICH) and rapid clinical deterioration, occurs infrequently. Contemporary imaging modalities do not reliably reflect underlying mass lesions in parenchymal brain haemorrhage at first presentation. We report a delayed diagnosis of GB in a 21-year-old patient presenting with spontaneous ICH and a negative initial neurovascular workup...
February 15, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28214142/-a-case-of-rhinofacial-entomophthoromycosis-in-soudano-sahelian-tropical-climate-in-burkina-faso
#11
S Bamba, V Konsegré, A Zida, I Sangaré, M Cissé, R Beogo, B Diallo, J B Andonaba, R T Guiguemdé
We describe a rhinofacial entomophthoramycosis case in a sexagenarian (65 years old) housewife. She was immunocompetent and resident of Burkina Faso. She consulted both the service of dermatology and the service of stomatology of the Teaching Hospital of Bobo-Dioulasso in February 2016 for a diffuse facial tumefaction evolving over six months. This tumefaction was associated with headaches and a left nasal obstruction. Histological examination of the lesion showed an important and polymorphic inflammatory reaction...
February 14, 2017: Journal de Mycologie Médicale
https://www.readbyqxmd.com/read/28213813/waiting-time-variation-in-early-intervention-psychosis-services-longitudinal-evidence-from-the-sepea-naturalistic-cohort-study
#12
James B Kirkbride, Y Hameed, L Wright, K Russell, C Knight, J Perez, P B Jones
PURPOSE: Early Intervention Psychosis [EIP] services have gained traction internationally, but are currently undergoing various forms of reconfiguration. In England, such services are now mandated to ensure 50% of accepted referrals commence care within 14 days, but no empirical evidence exists. We sought to estimate waiting times to EIP services in a large, representative epidemiological cohort in England, and investigate possible reasons for any variation. METHODS: We estimated median waiting time from referral to acceptance by EIP services and investigated whether this varied by clinical, demographic or neighbourhood-level factors, amongst 798 participants, 16-35 years old, presenting to six EIP services over 3...
February 18, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28212836/point-of-care-ultrasonography-for-evaluation-of-acute-dyspnea-in-the-emergency-department
#13
Maurizio Zanobetti, Margherita Scorpiniti, Chiara Gigli, Peiman Nazerian, Simone Vanni, Francesca Innocenti, Valerio T Stefanone, Caterina Savinelli, Alessandro Coppa, Sofia Bigiarini, Francesca Caldi, Irene Tassinari, Alberto Conti, Stefano Grifoni, Riccardo Pini
BACKGROUND: Acute dyspnea is a common symptom in the emergency department (ED). Standard approach to dyspnea often relies on radiologic and laboratoristic results, causing excessive delay before adequate therapy is started; an integrated point-of-care ultrasonography (PoCUS) approach can shorten the time needed to formulate a diagnosis maintaining an acceptable safety profile. METHODS: Consecutive adult patients presenting with dyspnea and admitted after ED evaluation were prospectively enrolled...
February 14, 2017: Chest
https://www.readbyqxmd.com/read/28212684/the-renape-observational-registry-rationale-and-framework-of-the-rare-peritoneal-tumors-french-patient-registry
#14
L Villeneuve, G Passot, O Glehen, S Isaac, F Bibeau, P Rousset, F N Gilly
BACKGROUND: Rare peritoneal cancers represent complex clinical situations requiring a specific and multidisciplinary management. Because of their rarity, lack of awareness and knowledge often leads to diagnostic delays and misdiagnosis. And patients are not systematically referred to expert centers as they should be. Clinicians and researchers also face unique challenges with these rare cancers, because it is hard to conduct adequately powered, controlled trials in such small patient population...
February 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28212666/classical-hodgkin-lymphoma-masquerading-as-chronic-recurrent-multifocal-osteomyelitis-a-case-report
#15
Michael Pham, Steven Ressler, Allison Rosenthal, Katalin Kelemen
BACKGROUND: Hodgkin lymphoma is a hematologic malignancy usually confined to lymphatic structures and commonly associated with constitutional symptoms. Bony involvement and musculoskeletal symptoms are uncommon and typically seen in advanced disease. In this case, we report an unusual presentation of classical Hodgkin lymphoma and highlight diagnostic challenges leading to the misdiagnosis and treatment as chronic recurrent multifocal osteomyelitis. CASE PRESENTATION: A 38-year-old white man presented with lower extremity musculoskeletal pain...
February 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28211341/food-protein-induced-enterocolitis-syndrome
#16
REVIEW
A Nowak-Węgrzyn, E Jarocka-Cyrta, Apb Moschione Castro
Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-, cell-mediated food allergy of unknown prevalence and pathophysiology. Onset is typically during the first year of life; seafood-induced FPIES may start in adulthood. Acute FPIES manifests within 1-4 hours after ingestion with repetitive emesis, pallor, and lethargy progressing to dehydration and hypovolemic shock in 15% of cases. Chronic FPIES manifests with intermittent emesis, watery diarrhea, and poor growth progressing to dehydration and hypovolemic shock over a period of days to weeks...
2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28211282/signet-ring-cell-carcinoma-of-the-jejunum-an-uncommon-finding-within-the-reach-of-capsule-endoscopy
#17
José Francisco Juanmartiñena, Marta Montes, Ignacio Fernández-Urién
An 80 year-old female presented with ductal breast carcinoma (stage II) three years ago, complained of asthenia and iron-deficiency anemia. No diagnosis was obtained after conventional endoscopy and iron supplements were indicated. Ten months later visible digestive hemorrhage was presented. Upper and lower endoscopy was repeated but non-diagnosis was obtained. Thus, video capsule endoscopy was indicated identifying a stenotic lesion arising in the mucosa of distal jejunum. Histopathological examination revealed a poorly mucinous differentiated signet-ring cell adenocarcinoma with an intense peri-tumoral lymphoid (Crohn´s-like lymphoid reaction) and lympho-vascular infiltration with no nodal metastases (pT3N0;7ª edition TNM classification)...
February 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28210705/gastric-esd-may-be-useful-as-accurate-staging-and-decision-of-future-therapeutic-strategy
#18
Ai Fujimoto, Osamu Goto, Toshihiro Nishizawa, Yasutoshi Ochiai, Joichiro Horii, Tadateru Maehata, Teppei Akimoto, Satoshi Kinoshita, Seiji Sagara, Motoki Sasaki, Toshio Uraoka, Naohisa Yahagi
Background and study aims We sometimes perform gastric endoscopic submucosal dissection (ESD) for total pathologic diagnosis when preoperative diagnosis is difficult. In the present study we analyzed the treatment outcomes and adverse events of diagnostic ESD for early gastric cancer (EGC). Patients and methods We conducted a retrospective analysis of 18 consecutive cases of EGC in 18 patients with a suspected out-of-indication diagnosis who underwent diagnostic ESD, between June 2010 and November 2014...
February 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28210553/impact-of-value-based-breast-cancer-care-pathway-implementation-on-pre-operative-breast-magnetic-resonance-imaging-utilization
#19
Devina K S McCray, Stephen R Grobmyer, Holly J Pederson
BACKGROUND: Bilateral breast magnetic resonance imaging (MRI) is commonly used in the diagnostic workup of breast cancer (BC) to assess extent of disease and identify occult foci of disease. However, evidence for routine use of pre-operative MRI is lacking. Breast MRI is costly and can lead to unnecessary tests and treatment delays. Clinical care pathways (care paths) are value-based guidelines, which define management recommendations derived by expert consensus and available evidence based data...
February 2017: Gland Surgery
https://www.readbyqxmd.com/read/28209905/diagnostic-value-of-18-f-fdg-pet-ct-versus-mri-in-the-setting-of-antibody-specific-autoimmune-encephalitis
#20
Lilja B Solnes, Krystyna M Jones, Steven P Rowe, Puskar Pattanayak, Abhinav Nalluri, Arun Venkatesan, John C Probasco, Mehrbod Som Javadi
Introduction: Diagnosis of autoimmune encephalitis presents some challenges in the clinical setting due to varied clinical presentations and delay in obtaining antibody panel results. We examined the role of neuroimaging in the setting of autoimmune encephalitides comparing the utility (18)F-FDG PET/CT versus conventional brain imaging with MRI. Methods: A retrospective study was performed assessing the positivity rate of MRI versus (18)F-FDG PET/CT during the initial work-up of 23 patients proven to have antibody positive autoimmune encephalitis...
February 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
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