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https://www.readbyqxmd.com/read/29356226/-i-know-i-m-not-invincible-an-interpretative-phenomenological-analysis-of-thyroid-cancer-in-young-people
#1
Stephanie Smith, Virginia Eatough, James Smith, Radu Mihai, Andrew Weaver, Gregory P Sadler
OBJECTIVE: Thyroid cancer is one of the most common cancers affecting young people and carries an excellent prognosis. Little is known about the psychosocial issues that face young people diagnosed with a treatable cancer. This study explored how young people experienced diagnosis, treatment, and how they made sense of an experience which challenged their views on what it means to have cancer. METHOD: Semi-structured interviews were conducted with eight young people diagnosed with either papillary or follicular thyroid cancer, and analysed with interpretative phenomenological analysis (IPA)...
January 22, 2018: British Journal of Health Psychology
https://www.readbyqxmd.com/read/29326371/mycoplasma-pneumoniae-infection-presenting-as-stroke-and-meningoencephalitis-with-aortic-and-subclavian-aneurysms-without-pulmonary-involvement
#2
Pournamy Sarathchandran, Abubaker Al Madani, Ayman M Alboudi, Jihad Inshasi
A 39-year-old Philipino man presented with acute onset fever and headache. Neurological examination was normal except for neck stiffness. There was no history of chest pain, cough or breathlessness. Cerebrospinal fluid (CSF) showed a mild increase in protein with normal sugar and lymphocytic pleocytosis. CSF PCR for herpes simplex and varicella zoster virus was negative. He developed acute right haemiplegia a week after hospitalisation. MRI showed acute infarct in the left centrum semiovale. His angiogram showed aneurysm in the left subclavian artery and aortic arch...
January 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#3
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29324814/comprehensive-molecular-profiling-of-advanced-metastatic-olfactory-neuroblastomas
#4
Jasmina Topcagic, Rebecca Feldman, Anatole Ghazalpour, Jeffrey Swensen, Zoran Gatalica, Semir Vranic
Olfactory neuroblastoma (ONB) is a rare, locally aggressive, malignant neoplasm originating in the olfactory epithelium in the nasal vault. The recurrence rate of ONB remains high and there are no specific treatment guidelines for recurrent/metastatic ONBs. This study retrospectively evaluated 23 ONB samples profiled at Caris Life Sciences (Phoenix, Arizona) using DNA sequencing (Sanger/NGS [Illumina], n = 15) and gene fusions (Archer FusionPlex, n = 6), whole genome RNA microarray (HumanHT-12 v4 beadChip, Illumina, n = 4), gene copy number assays (chromogenic and fluorescent in situ hybridization), and immunohistochemistry...
2018: PloS One
https://www.readbyqxmd.com/read/29298795/cardiac-tamponade-causing-severe-reversible-hyponatraemia
#5
Tarun Dalia, Reza Masoomi, Kamal Kant Sahu, Kamal Gupta
Severe hyponatraemia in setting of cardiac tamponade is very rare and only few case reports have been reported so far. This case report highlights pericardial tamponade as a rare but easily treatable cause of severe hyponatraemia. Pertinent literature is also reviewed. A 70-year-old woman presented to the emergency department with altered mental status. She was tachycardic and hypotensive with cardiomegaly on a chest X-ray. Serum sodium was severely low at 109 mmol/L and was identified as the likely cause for her abnormal mentation...
January 3, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29290262/gcc2-alk-as-a-targetable-fusion-in-lung-adenocarcinoma-and-its-enduring-clinical-responses-to-alk-inhibitors
#6
Junhong Jiang, Xue Wu, Xiaoling Tong, Wangzhi Wei, Anan Chen, Xiaonan Wang, Yang W Shao, Jianan Huang
OBJECTIVES: ALK, RET and ROS1 fusions have been identified as treatable targets in 5%-15% of non-small-cell lung cancers, and thanks to the advanced sequencing technologies, their new partner genes have been steadily detected. Here we identified a rare fusion of ALK (GCC2-ALK) in a patient with advanced lung adenocarcinoma and monitored the treatment efficacy of ALK inhibitors on this patient. We further performed in vitro functional studies of this fusion protein for evaluating its oncogenic potential...
January 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29284203/severe-methylenetetrahydrofolate-reductase-mthfr-deficiency-a-rare-treatable-cause-of-complicated-hereditary-spastic-paraplegia
#7
Alessia Perna, Marcella Masciullo, Anna Modoni, Elena Cellini, Elena Parrini, Enzo Ricci, Alice M Donati, Gabriella Silvestri
BACKGROUND: Juvenile or adult onset forms of severe 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated hereditary spastic paraplegia have been rarely described. METHODS: Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. RESULTS: Brain MRI showed occipital white matter alterations; EMG documented a mixed polyneuropathy...
December 28, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29283905/efficacy-and-safety-of-flexible-endoscopic-management-of-zenker-s-diverticulum
#8
Deepanshu Jain, Abhinav Sharma, Manan Shah, Upen Patel, Nirav Thosani, Shashideep Singhal
Zenker's diverticulum (ZD), a pulsion diverticulum of hypopharynx is a rare but treatable cause of morbidity in geriatric population. Traditionally a surgical disease but due to its associated high morbidity, flexible endoscopy has become a lucrative option. We reviewed 997 patients from 23 original studies who underwent flexible endoscopic diverticulotomy (FED) of ZD. Composite technical and clinical success rate for the study cohort was 99.4% and 87.9%, respectively. Composite failure rate was 10.0% but close to half of them (45...
December 27, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29279830/homocystinuria-with-stroke-and-positive-familial-history
#9
Ali Mazaheri, Neda Mostofizadeh, Mahin Hashemipour
Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in the blood and urine. In this report, we present a case with clinical and biochemical findings of homocystinuria with stroke and a positive familial history of the disease in her brother. A 4-year-old girl was admitted to pediatric emergency ward because of acute onset of right hemiparesis and subsequent generalized tonic-clonic seizures...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29261563/pediatric-in-hospital-cardiac-arrest-secondary-to-acute-pulmonary-embolism
#10
Ryan W Morgan, Hannah R Stinson, Heather Wolfe, Robert B Lindell, Alexis A Topjian, Vinay M Nadkarni, Robert M Sutton, Robert A Berg, Todd J Kilbaugh
OBJECTIVES: Pulmonary embolism is a rarely reported and potentially treatable cause of cardiac arrest in children and adolescents. The objective of this case series is to describe the course of five adolescent patients with in-hospital cardiac arrest secondary to pulmonary embolism. DESIGN: Case series. SETTING: Single, large academic children's hospital. PATIENTS: All patients under the age of 18 years (n = 5) who experienced an in-hospital cardiac arrest due to apparent pulmonary embolism from August 1, 2013, to July 31, 2017...
December 19, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/29237491/cost-effectiveness-of-enzyme-replacement-therapy-with-alglucosidase-alfa-in-adult-patients-with-pompe-disease
#11
Tim A Kanters, Ans T van der Ploeg, Michelle E Kruijshaar, Dimitris Rizopoulos, W Ken Redekop, Maureen P M H Rutten-van Mӧlken, Leona Hakkaart-van Roijen
BACKGROUND: Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigates the cost-effectiveness of ERT compared to supportive treatment in adult patients with Pompe disease. METHODS: Survival probabilities were estimated from an international observational dataset (n = 283) using a time-dependent Cox model...
December 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29205319/atypical-presentations-of-dysembryoplastic-neuroepithelial-tumors
#12
Jessica Stark, Elliott Friedman, Stephen Thompson, Gretchen Von Allmen, Meenakshi Bhattacharjee, Nitin Tandon
Dysembryoplastic neuroepithelial tumors (DNETs) are World Health Organization grade 1 neoplasms, typically present as isolated cortical lesions with no associated edema. We present 3 rare cases of DNETs that were atypical in location (all were subcortical and 1 was bilateral), 2 of which displayed substantial growth over time. All 3 cases presented with seizures that were not well controlled on medications, followed by a successful cure of the epilepsy when these lesions were removed. These cases uniquely illustrate that DNETs can be present throughout the brain and may generate seizures even in a subcortical location, possibly due to containing neurons with the potential for aberrant microcircuitry...
December 3, 2017: Epilepsia
https://www.readbyqxmd.com/read/29204204/thiamine-responsive-pyruvate-dehydrogenase-complex-deficiency-a-potentially-treatable-cause-of-leigh-s-disease
#13
Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or p.H44R in exon 3 consistent with PDHC deficiency. H44R is among the five mutations (H44R, R88S, G89S, R263G, and V389fs) in E1α subunit that is thiamine-responsive...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29203116/diagnosis-and-management-of-metastatic-neoplasms-with-unknown-primary
#14
REVIEW
Tilmann Bochtler, Harald Löffler, Alwin Krämer
In cancer of unknown primary (CUP), metastases are clinically and histologically confirmed, but the primary tumor site remains elusive after extensive work-up. CUPs make up for 2-3% of all epithelial malignancies. The two prevailing histologies are adenocarcinomas and undifferentiated carcinomas, whereas squamous cell carcinomas, neuroendocrine carcinomas and rare histologies account for the remaining 10%. The diagnostic work-up in CUP relies strongly on a detailed immunohistological (IHC) analysis in order to characterize the tumor type, nowadays aided by molecular techniques...
November 26, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29201125/glutaric-aciduriatype-1-clinical-and-molecular-study-in-iranian-patients-3-novel-mutations
#15
Zahra Pirzadeh, Massoud Houshmand, Jafar Nasiri, Mohsen Mollamohammadi, Mostafa Sedighi, Seyed Hassan Tonekaboni
Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. Materials & Methods: In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29196306/perinatal-infratentorial-haemorrhage-a-rare-but-possibly-life-threatening-condition
#16
Bettina Cornelia Henzi, Bendicht Wagner, Rajeev Kumar Verma, Sandra Bigi
BACKGROUND: Perinatal infratentorial haemorrhage (PIH) is a rare birth complication associated with abnormal labour. CASE PRESENTATION: A baby boy was born by vacuum extraction at 41 weeks' gestational age. The pregnancy was uneventful and Apgar scores were 3/6/9. Following initial resuscitation, insufficient and irregular breathing, non-reactive pupils and absence of spontaneous movements were noted. A diagnosis of perinatal asphyxia with hypoxic-ischaemic encephalopathy (HIE) was considered...
December 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29189923/congenital-myasthenic-syndrome-with-episodic-apnoea-clinical-neurophysiological-and-genetic-features-in-the-long-term-follow-up-of-19-patients
#17
Grace McMacken, Roger G Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in these patients are unclear. Whilst CMS-EA is most commonly caused by mutations in CHAT, the list of associated genotypes is expanding. METHODS: We reviewed clinical information from 19 patients with CMS-EA, including patients with mutations in CHAT, SLC5A7 and RAPSN, and patients lacking a genetic diagnosis...
November 30, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29175873/crowned-dens-syndrome
#18
David Ledingham, Cecilia Cappelen-Smith, Dennis Cordato
Crowned dens syndrome is a rare presentation of calcium pyrophosphate deposition disease. It is characterised by severe occipital pain and neck stiffness. Acute presentations are typically accompanied by fever and an inflammatory response and hence can be misdiagnosed as polymyalgia rheumatica or meningitis. Chronic relapsing presentations may be misdiagnosed as cervicogenic neck pain or occipital neuralgia. We present a patient who presented with a chronic relapsing form of crowned dens syndrome and discuss the epidemiology, typical presentation and management of this eminently treatable condition...
November 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29159549/-diagnostics-of-wilson-s-disease
#19
REVIEW
W Hermann, D Huster
Wilson's disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately. Therefore, knowledge of this rare clinical condition and a reliable diagnosis are indispensable. The diagnostic work-up is initiated in cases of unexplained acute or chronic liver disease and/or an extrapyramidal motor disturbance occurring mostly between the 5th and 45th years of life. Manifestations with initial symptoms have occasionally been observed at an age younger than 1 year and later than 70 years...
November 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29155018/emerging-infections-are-an-increasingly-important-topic
#20
REVIEW
Eskild Petersen, Nicola Petrosillo, Marion Koopmans
OBJECTIVES: This paper review trends in emerging infections and the need for increased clinical and laboratory surveillance. METHODS: Factors that contributed to the emergence of recent outbreaks have been reviewed. Known, major outbreaks over the past two decades were reviewed. RESULTS: We identified at least four major drivers of emergent infections: i. increasing density of the human population; ii. stress from farmland expansion on the environment; iii...
November 15, 2017: Clinical Microbiology and Infection
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