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https://www.readbyqxmd.com/read/28820556/unusual-locations-for-cardiac-papillary-fibroelastomas
#1
Davide Carino, Francesco Nicolini, Alberto Molardi, Clara Indira Dadamo, Tiziano Gherli
Papillary fibroelastomas (PFEs) are rare and benign cardiac tumors which usually are localized on the valves (mostly on the aortic valve), though they may originate also from the ventricles or atrial walls. Whilst, in the large majority of cases, these lesions are asymptomatic they may cause serious complications such as thromboembolic events, or more rarely valvular dysfunctions. Surgical excision is necessary for a symptomatic lesion. The management of asymptomatic lesions is not defined. Herein are reported the details of a miniseries of six cases operated on at the authors' institution between 2005 and 2015...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28798925/post-traumatic-dural-sinus-thrombosis-following-epidural-hematoma-literature-review-and-case-report
#2
Lorenzo Pescatori, Maria Pia Tropeano, Cristina Mancarella, Emiliano Prizio, Giorgio Santoro, Maurizio Domenicucci
Dural sinus thrombosis following a head trauma is a rare condition, described in literature along with the lack of consensus regarding diagnosis and management. We present a case of a fifty-year-old man with a head injury and combined supratentorial-subtentorial epidural hematoma who was treated conservatively through the administration of low molecular weight heparin. The diagnosis and management of this condition are discussed based on a literature review. The early diagnosis may prevent potentially treatable poor outcomes...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28751535/how-to-use-tests-for-disorders-of-copper-metabolism
#3
Jane Armer, Christian De Goede
In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the ATP7B gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD...
July 27, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28747059/rectal-inflammatory-stenosis-secondary-to-chlamydia-trachomatis-a-case-report
#4
Luis Eduardo Pérez Sánchez, Moisés Hernández Barroso, Guillermo Hernández Hernández
The rectal inflammatory originated strictures constitute a rare cause of intestinal obstruction. We present a 30-year-old male patient with a history of HIV and protctitis caused by Chalmydia trachomatis and HSV-2, in which develops a low intestinal obstruction refractory to medical treatment. Surgery was performed with good clinical evolution. The medical treatment constitutes the fundamental basis of the therapy in these patients. Despite that, when fibrotic stenoses are not treatable medical or endoscopically, they often require surgical treatment...
July 27, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28741119/treatable-genetic-metabolic-epilepsies
#5
REVIEW
Lama Assi, Youssef Saklawi, Pascale E Karam, Makram Obeid
In the absence of a culprit epileptogenic lesion, pharmacoresistant seizures should prompt the physician to consider potentially treatable metabolic epilepsies, especially in the presence of developmental delays. Even though the anti-seizure treatment of the epilepsies remains symptomatic and usually tailored to an electroclinical phenotype rather than to an underlying etiology, a thorough metabolic workup might reveal a disease with an etiology-specific treatment. Early diagnosis is essential in the case of treatable metabolic epilepsies allowing timely intervention...
September 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28736097/alcoholic-pellagra-as-a-cause-of-altered-mental-status-in-the-emergency-department
#6
Sarah Kyuragi Luthe, Ryota Sato
BACKGROUND: Pellagra, which is caused by a deficiency of niacin and tryptophan, the precursor of niacin, is a rare disease in developed countries where alcoholism is a major risk factor due to malnutrition and lack of B vitamins. Although pellagra involves treatable dementia and psychosis, it is often underdiagnosed, especially in developed countries. CASE REPORT: In Japan, a 37-year-old man presented to the emergency department with altered mental status and seizures...
July 20, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28717730/multicompartmental-trigeminal-schwannomas-dumbbell-tumors-revisited
#7
Abhishek Mahajan, Nilesh P Sable, Richa Vaish, Aliasgar Moiyadi, Supreeta Arya, Anil Keith D'Cruz
Multicompartmental trigeminal schwannomas (MTSs) are a rare and complex but treatable group of tumors. Herein, we describe the clinicoradiologic presentation of two patients with MTS. The two illustrated distinct case reports highlight the role of imaging and the outcome of two different types of MTS. The Discussion summarizes the literature to date, which will help the reader diagnose these tumors in a timely manner and manage them appropriately.
December 2016: Journal of Global Oncology
https://www.readbyqxmd.com/read/28707234/the-elusive-search-for-optimal-blood-pressure-targets
#8
REVIEW
Alan H Gradman
BP treatment thresholds/targets determine when to initiate treatment and to what level BP should be reduced. The Seventh Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure (JNC-7) recommended a target of <140/90 for most patients and a target <130/80 mmHg for patients with diabetes or chronic kidney disease. Subsequently, meta-analyses, retrospective studies relating on-treatment BP to clinical outcomes and two large, randomized clinical trials (RCTs) have re-evaluated BP targets...
August 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28701496/the-spectrum-of-mild-traumatic-brain-injury-a-review
#9
REVIEW
Andrew R Mayer, Davin K Quinn, Christina L Master
OBJECTIVE: This review provides an in-depth overview of diagnostic schema and risk factors influencing recovery during the acute, subacute (operationally defined as up to 3 months postinjury), and chronic injury phases across the full spectrum of individuals (e.g., athletes to neurosurgery patients) with mild traumatic brain injury (mTBI). Particular emphasis is placed on the complex differential diagnoses for patients with prolonged postconcussive symptoms. METHODS: Select literature review and synthesis...
August 8, 2017: Neurology
https://www.readbyqxmd.com/read/28698240/beyond-hormone-replacement-quality-of-life-in-women-with-congenital-hypogonadotropic-hypogonadism
#10
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, Andrew A Dwyer
OBJECTIVE: Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH) and evaluate if their experiences differ from women with more common forms of infertility. DESIGN: Cross-sectional, multiple methods study using web-based data collection to reach dispersed rare disease patients. METHODS: A community-based participatory research framework was employed to develop an online survey and collect quantitative and qualitative data...
August 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28690659/chronic-myeloid-leukemia-with-a-complex-variant-ph-translocation-that-develops-in-breast-carcinoma-postchemotherapy-a-rare-but-treatable-entity
#11
Gargi Tikku, Monica Jain, Pragya Shukla
We report a case of chronic myeloid leukemia (CML) that developed after postoperative chemotherapy with cyclophosphamide, doxorubicin and 5-fluorouracil (CAF) for breast cancer. A 55-year-old woman was diagnosed with invasive ductal carcinoma which was treated with a modified radical mastectomy followed by six cycles of CAF chemotherapy. Nine years later, she developed CML and locoregional recurrence. Her breast recurrence showed strong estrogen receptor, weak progesterone receptor and strong human epidermal growth factor 2 (score 3+) expression...
June 2017: Journal of Breast Cancer
https://www.readbyqxmd.com/read/28689769/osteoporosis-treatment-recent-developments-and-ongoing-challenges
#12
REVIEW
Sundeep Khosla, Lorenz C Hofbauer
Osteoporosis is an enormous and growing public health problem. Once considered an inevitable consequence of ageing, it is now eminently preventable and treatable. Ironically, despite tremendous therapeutic advances, there is an increasing treatment gap for patients at high fracture risk. In this Series paper, we trace the evolution of drug therapy for osteoporosis, which began in the 1940s with the demonstration by Fuller Albright that treatment with oestrogen could reverse the negative calcium balance that developed in women after menopause or oophorectomy...
July 6, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28678037/sporadic-late-onset-nemaline-myopathy-with-monoclonal-gammopathy-of-undetermined-significance
#13
Akinori Uruha, Olivier Benveniste
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS) is a rare subacute progressive muscle disease. The prognosis is poor due to severe respiratory insufficiency. Recently, however, autologous stem-cell transplantation following high-dose melphalan has been shown to be effective unless there is delay before the treatment. Therefore, early recognition of the disease is important. This review gives an overview of recent advances about SLONM-MGUS, which could help to understand clinical and pathological features and treatment...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28671587/inborn-errors-of-metabolism-and-epilepsy-current-understanding-diagnosis-and-treatment-approaches
#14
REVIEW
Suvasini Sharma, Asuri N Prasad
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term "metabolic epilepsy" can be used to include these conditions. These epilepsies can present across the life span, and share features of refractoriness to anti-epileptic drugs, and are often associated with co-morbid developmental delay/regression, intellectual, and behavioral impairments...
July 2, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28667724/an-indian-family-with-tyrosine-hydroxylase-deficiency
#15
Jyotindra Narayan Goswami, Naveen Sankhyan, Pratibha D Singhi
BACKGROUND: Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. CASE CHARACTERISTICS: An Indian family with the disorder. OBSERVATIONS: Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness. MESSAGE: Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28651656/operable-patent-ductus-arteriosus-even-with-differential-cyanosis-a-case-of-patent-ductus-arteriosus-and-mitral-stenosis
#16
Anunay Gupta, Shyam S Kothari
Patients with patent ductus arteriosus and significant left-to-right shunt develop Eisenmenger syndrome at an early age and are not operable after development of irreversible pulmonary artery hypertension. Patients with mitral stenosis, however, are treatable even with suprasystemic pulmonary artery pressures. A combination of these two lesions is rare. We document a patient with differential cyanosis who improved after corrective surgery of both the lesions. The importance of post-capillary pulmonary artery hypertension in shunt lesions needs to be better appreciated...
June 27, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28644255/periodic-paralysis-and-encephalopathy-as-initial-manifestations-of-graves-disease-case-report-and-review-of-the-literature
#17
Theocharis Tsironis, Athanasios Tychalas, Dimitrios Kiourtidis, Jannis Kountouras, Georgia Xiromerisiou, Jobst Rudolf, Georgia Deretzi
BACKGROUND: Thyrotoxic periodic paralysis (TPP) is an uncommon complication of Graves' disease, characterized by the triad of acute hypokalemia without total body potassium deficit, episodic muscle paralysis, and thyrotoxicosis. Graves' encephalopathy is an extremely rare form of encephalopathy associated with autoimmune thyroid disease (EAATD), characterized by neuropsychiatric symptoms, increased antithyroid antibodies and cerebrospinal fluid protein concentration, nonspecific electroencephalogram abnormalities, and cortico-responsiveness...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#18
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28609309/spontaneous-regression-of-malignant-melanoma-is-it-based-on-the-interplay-between-host-immune-system-and-melanoma-antigens
#19
Monika Cervinkova, Petra Kucerova, Jana Cizkova
Malignant melanoma (MM) is the most aggressive and uneasily treatable form of skin cancer. Up to 90% of deaths because of skin tumours are estimated to be caused by this malignancy. Spontaneous regression is described as a partial or complete disappearance of cancer. It can be defined if the clinical and histological diagnosis of malignancy is verified and any therapeutic intervention potentially inducing mechanisms leading to regression has not been applied. Regression occurs more frequently in melanoma than in other types of tumours; it is reported to be six times higher than in other malignancies...
September 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28606721/why-does-cervical-cancer-occur-in-a-state-of-the-art-screening-program
#20
Philip E Castle, Walter K Kinney, Li C Cheung, Julia C Gage, Barbara Fetterman, Nancy E Poitras, Thomas S Lorey, Nicolas Wentzensen, Brian Befano, John Schussler, Hormuzd A Katki, Mark Schiffman
BACKGROUND: The goal of cervical screening is to detect and treat precancers before some become cancer. We wanted to understand why, despite state-of-the-art methods, cervical cancers occured in relationship to programmatic performance at Kaiser Permanente Northern California (KPNC), where >1,000,000 women aged ≥30years have undergone cervical cancer screening by triennial HPV and cytology cotesting since 2003. METHODS: We reviewed clinical histories preceding cervical cancer diagnoses to assign "causes" of cancer...
June 10, 2017: Gynecologic Oncology
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