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https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#1
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
No abstract text is available yet for this article.
October 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28596666/enoxaparin-induced-skin-lesions-in-pregnancy-a-rare-but-clinically-recognizable-association
#2
Sumeet Prakash Mirgh, Abhay A Bhave
We report the case of a 29 year old pregnant female who experienced itching with erythematous plaques on prophylactic enoxaparin for recurrent fetal losses. These lesions generalized on rechallenge but erythema and itching gradually resolved after 4 weeks of discontinuation. Cutaneous adverse events with heparin have been reported (Villanueva et al. in Actas Dermosifiliogr 103:816-819, 2012; Neloska et al. in Acta Dermatovenerol Croat 23:223-224, 2015; Maldonado et al. in Clin Exp Dermatol 37:707-711, 2012; Schindewolf et al...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27483574/-treatment-by-bloodletting-in-the-past-and-present
#3
Natasa Colović, Danijela Leković, Mirjana Gotić
INTRODUCTION: Therapeutic bloodletting has been practiced at least 3000 years as one of the most frequent methods of treatment in general, whose value was not questioned until the 19th century, when it was gradually abandoned in Western medicine, while it is still practiced in Arabic and traditional Chinese medicine. CONTENT: In modern medicine bloodletting is practiced for very few indications. Its concept was modeled on the process of menstrual bleeding, for which it was believed to"purge women of bad humours...
March 2016: Srpski Arhiv za Celokupno Lekarstvo
https://www.readbyqxmd.com/read/27040985/a-role-for-tenm1-mutations-in-congenital-general-anosmia
#4
A Alkelai, T Olender, R Haffner-Krausz, M M Tsoory, V Boyko, P Tatarskyy, R Gross-Isseroff, R Milgrom, S Shushan, I Blau, E Cohn, R Beeri, E Levy-Lahad, E Pras, D Lancet
Congenital general anosmia (CGA) is a neurological disorder entailing a complete innate inability to sense odors. While the mechanisms underlying vertebrate olfaction have been studied in detail, there are still gaps in our understanding of the molecular genetic basis of innate olfactory disorders. Applying whole-exome sequencing to a family multiply affected with CGA, we identified three members with a rare X-linked missense mutation in the TENM1 (teneurin 1) gene (ENST00000422452:c.C4829T). In Drosophila melanogaster, TENM1 functions in synaptic-partner-matching between axons of olfactory sensory neurons and target projection neurons and is involved in synapse organization in the olfactory system...
September 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26180448/congenital-triangular-alopecia
#5
REVIEW
Vincent Chum Yin Li, Paul Devakar Yesudian
Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis...
April 2015: International Journal of Trichology
https://www.readbyqxmd.com/read/25453399/concurrence-of-b-lymphoblastic-leukemia-and-myeloproliferative-neoplasm-with-copy-neutral-loss-of-heterozygosity-at-chromosome-1p-harboring-a-mpl-w515s-mutation
#6
Jiangchuan Tao, Xiaohui Zhang, Jeffrey Lancet, John M Bennett, Li Cai, Peter Papenhausen, Lynn Moscinski, Ling Zhang
B-lymphoblastic leukemia (B-ALL) is a neoplasm of precursors committed to B-cell lineage, whereas myeloproliferative neoplasm (MPN) is a clonal proliferation derived from myeloid stem cells. Concurrent B-ALL with MPN is uncommon except in the presence of abnormalities of the PDGFRA, PDGFRB, or FGFR1 genes or the BCR-ABL1 fusion gene. Herein, we describe a rare concurrence, B-ALL with MPN without the aforementioned genetic aberrations, in a 64-year-old male patient. The patient was initially diagnosed with B-ALL with normal karyotype and responded well to aggressive chemotherapy but had sustained leukocytosis and splenomegaly...
October 2014: Cancer Genetics
https://www.readbyqxmd.com/read/25334845/cicatricial-pemphigoid-masquerading-as-asthma
#7
Margaret Zambon, Serban Staicu, Michael Nead, Mark Frampton
Obstructive Airway Disease CasesSESSION TYPE: Affiliate Case Report SlidePRESENTED ON: Sunday, October 26, 2014 at 03:15 PM - 04:15 PMINTRODUCTION: Cicatricial pemphigoid is a chronic inflammatory disease that frequently involves the eyes and upper airway mucosa but very rarely involves the lower airways. We report a patient with CP involving the eyes and sinuses, with worsening obstructive lung disease.CASE PRESENTATION: A 52-year-old man with biopsy-proven CP involving the eyes and paranasal sinuses was referred for pulmonary consultation for poorly controlled asthma...
October 1, 2014: Chest
https://www.readbyqxmd.com/read/24715909/soft-tissue-chondroma-of-the-oral-cavity-an-extremely-rare-tumour-localized-on-the-hard-palate
#8
Paolo Vescovi, Marco Meleti, Elisabetta Merigo, Maddalena Manfredi, Domenico Corradi, Ilaria Giovannacci, Tito Poli, Samir Nammour
Chondromas are benign cartilaginous tumors usually localized within the tubular bones of the extremities. Soft tissue chondromas (STCs) are rare and only few cases have been reported in the oral cavity. The present case documents the exceptional finding of a 12-year-standing STC of the hard palate of a 63-year-old man. The tumor measured approximately 6 cm in its larger size and it was radically excised through the use of a quantic resonance molecular (QRM) lancet. No recurrence was observed during 1-year follow-up...
2014: Case Reports in Medicine
https://www.readbyqxmd.com/read/24255864/cortical-non-aneurysmal-subarachnoid-hemorrhage-post-carotid-endarterectomy-a-case-report-and-literature-review
#9
Gopiga Thanabalasundaram, Silvia Hernández-Durán, Thabele Leslie-Mazwi, Christopher S Ogilvy
Cerebral hyperperfusion syndrome is a well-recognized and potentially fatal complication of carotid revascularization. However, the occurrence of non-aneurysmal subarachnoid hemorrhage as a manifestation of cerebral hyperperfusion syndrome post-carotid endarterectomy is uncommon. We report a case of a patient who presented with headache following carotid endarterectomy for a critically occluded common carotid artery. This progressed to deteriorating consciousness and seizures. Investigations revealed a left cortical non-aneurysmal subarachnoid hemorrhage...
2013: SpringerPlus
https://www.readbyqxmd.com/read/23835809/brainstem-swelling-and-noncommunicating-hydrocephalus-caused-by-hypertensive-brainstem-encephalopathy
#10
Nuri Karabay, Lale Emin, Emel Ada
Hypertensive encephalopathy is a life-threatening medical condition manifested by headache, confusion, seizures, and visual disturbance, and, if treatment is delayed, it may progress to coma and death [1, 2] (Chester et al., Neurology 28:928-939, 1978; Vaughan and Delanty, Lancet 356:411-417, 2000). Involvement of the brainstem with or without supratentorial lesions has been reported and is termed hypertensive brainstem encephalopathy (HBE). Cases of HBE involving supratentorial deep gray and white matter are rare and extensive hyperintensity was predominantly seen in brainstem regions on fluid-attenuated inversion recovery and T2-weighted magnetic resonance images...
December 2013: Emergency Radiology
https://www.readbyqxmd.com/read/23699021/a-filipino-family-with-frequent-incidence-of-primary-spontaneous-pneumothorax
#11
Rodolfo Dizon, Nino Jessielito Doydora, Ricardo Salonga, Jose Edzel Tamayo, Catherine Lynn Silao, Megan Devine, Christine Kim Garcia, J Jose Turla, Gener Idor
SESSION TYPE: Pleural Global Case Report PostersPRESENTED ON: Tuesday, October 23, 2012 at 01:30 PM - 02:30 PMINTRODUCTION: A spontaneous pneumothorax is defined as air entering the pleural space without antecedent trauma to the thorax. This may be sub-classified into primary spontaneous pneumothorax (PSP) - occurring in the absence of an underlying lung disease. A subtype of PSP is classified as familial. Here, we present the first Filipino family documented to have Birt-Hogg-Dube (BHD) Syndrome - an autosomal dominant condition manifesting as familial primary spontaneous pneumothorax...
October 1, 2012: Chest
https://www.readbyqxmd.com/read/23698904/a-pink-ribbon-heart
#12
Leslie Wilke, Marcia Henderson, Shannon Ward, William Petersen
SESSION TYPE: Cardiovascular Case Report PostersPRESENTED ON: Tuesday, October 23, 2012 at 01:30 PM - 02:30 PMINTRODUCTION: Hypoxemia with cor pulmonale in patients with malignancy has a broad differential.CASE PRESENTATION: An 83-year-old white female presented to the Pulmonary clinic with five days of progressive dyspnea. She was three weeks status post mastectomy for high-grade invasive ductal carcinoma with sarcomatoid features. (Fig 1) Exam revealed tachycardia with a blood pressure 130/65 mmHg, a room air saturation of 85% and a new III/VI systolic murmur...
October 1, 2012: Chest
https://www.readbyqxmd.com/read/22025370/data-sources-on-drug-safety-evaluation-a-review-of-recent-published-meta-analyses
#13
REVIEW
Carlos Alves, Francisco Batel-Marques, Ana Filipa Macedo
PURPOSE: Meta-analysis is a quantitative approach to summarize the findings from several studies and has been applied with increasing frequency to clinical trials. Because of their sample size and duration limitations, experimental studies (ESs) could not be able to detect late or rare adverse events (AEs), which may be identified in well-designed observational studies (OSs). This study aims to identify and analyze meta-analyses from both ES and OS where safety was found to be an outcome measure...
January 2012: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/21682944/dock4-and-ceacam21-as-novel-schizophrenia-candidate-genes-in-the-jewish-population
#14
Anna Alkelai, Sara Lupoli, Lior Greenbaum, Yoav Kohn, Kyra Kanyas-Sarner, Edna Ben-Asher, Doron Lancet, Fabio Macciardi, Bernard Lerer
It is well accepted that schizophrenia has a strong genetic component. Several genome-wide association studies (GWASs) of schizophrenia have been published in recent years; most of them population based with a case-control design. Nevertheless, identifying the specific genetic variants which contribute to susceptibility to the disorder remains a challenging task. A family-based GWAS strategy may be helpful in the identification of schizophrenia susceptibility genes since it is protected against population stratification, enables better accounting for genotyping errors and is more sensitive for identification of rare variants which have a very low frequency in the general population...
May 2012: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/21186510/-sir-arthur-conan-doyle-sherlock-holmes-and-infectious-diseases
#15
Walter Ledermann D
Besides a pleasant author of best sellers, Sir Arthur Conan Doyle was a medical doctor, writing excellent short stories about the exercise of his profession in England. However, even he mentions The British Medical Journal and The Lancet in the Sherlock Holmes's stories, when in the plot introduces infectious diseases, Conan Doyle ignores important discoveries in the field of tetanus. Anyway, the appearing of infectious diseases in the adventures of the detective are rare: one mention of tetanus, another of leprosy and- the most analyzed in medical literature a case of murder by inoculation of bacteria, probably the agent of melioidosis...
October 2010: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/20831627/the-use-and-reporting-of-multiple-imputation-in-medical-research-a-review
#16
REVIEW
A Mackinnon
BACKGROUND: Multiple imputation (MI) is an advanced, principled method of dealing with missing data in statistical analyses, a common problem in medical research. This paper sought to document the use of MI in general medical journals and to evaluate the information provided to readers about the application of the procedure in studies. METHODS: Research articles using MI in analyses published in JAMA, New England Journal of Medicine, BMJ and the Lancet were identified using full text searches from the earliest date each journal offered such searches until the end of 2008...
December 2010: Journal of Internal Medicine
https://www.readbyqxmd.com/read/20380092/-abdominal-expression-of-the-fetus-in-the-21st-century
#17
I Trifonov, Zh Usunov, D Kostadinova
Exercising pressure to the bottom of the uterus in different ways in order to accelerate the second period of giving birth is a widespread practice in the obstetrics departments of the country, which is generally not recorded in the history of the disease and in the rare cases when this is done it is indicated as "Kristeller method". Studies on the topic have been been published in various journals cited in Medline, Cochrane library, Nature, Science, Lancet, GyneWeb and others. Keywords used are: "Pressure, Fundal pressure, Expression abdominale, Obstetric Labor Complications, Kristeller maneuver second stage of labor"...
2009: Akusherstvo i Ginekologii︠a︡
https://www.readbyqxmd.com/read/20065388/-the-epidemiology-of-aids-in-iceland-the-first-ten-years
#18
H Briem, S B Thorsteinsson, S Gudmundsson, K Erlendsson, A Love
Objective. To describe the epidemiology of AIDS and HIV infection in Iceland with demographic characteristics and associated risk factors. Design. Survey of national data reported to the Office of the Director General of Public Health in Iceland from November 1985 to December 311994. The dates of diagnosis of HIV infection, AIDS and death due to AIDS were collected from the patients physicians. Patients. All patients diagnosed with HIV and AIDS in Iceland during the study period. Methods. The expanded European AIDS surveillance case definition was used (Lancet 1993 ;341:441)...
January 1996: Læknablađiđ
https://www.readbyqxmd.com/read/19468652/-a-forgotten-disease-a-case-of-lemierre-syndrome
#19
P Velagapudi, Mohit Turagam, C Are, H Patel, L Yekkirala
Lemierre's syndrome is a rare but a life threatening condition which affects young healthy individuals, was first described by Dr.Andre Lemierre in 1936. Incidence rates are between 0.6 and 2.3 per million population. It is found more commonly in males, with a male to female ratio of approximately 2:1. Its pathogenesis consists of the development of infectious thrombophlebitis in the internal jugular vein or one of its branches caused by a focal sepsis, mostly localized in the oropharynx, leading to generalized multiorgan metastatic infections, generally to the lung...
May 20, 2009: TheScientificWorldJournal
https://www.readbyqxmd.com/read/18617184/left-main-coronary-thrombosis-unusual-complication-after-radiofrequency-ablation-of-left-accessory-atrioventricular-pathway
#20
Ilyes Kharrat, Hanene Charfeddine, Mohamed Sahnoun, Sofiene Rekik, Salma Krichen, Mourad Hentati, Samir Kammoun
Radiofrequency ablation (RFA) has established itself as a first-line therapy for the curative treatment of many patients with supraventricular or atrioventricular tachycardias and has exhibited a generally low incidence of serious sequelae (N Engl J Med. 1991;324:1612; Lancet. 1991;337:1557). Coronary artery injury is a rare complication. We present a patient with an acute thrombotic total occlusion of the left main coronary artery immediately after the end of RFA who was successfully treated with emergency percutaneous transluminal coronary angioplasty...
November 2008: Journal of Electrocardiology
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