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https://www.readbyqxmd.com/read/29145648/relative-performance-of-hpv-and-cytology-components-of-cotesting-in-cervical-screening
#1
Mark Schiffman, 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, Philip E Castle
Background: The main goal of cervical screening programs is to detect and treat precancer before cancer develops. Human papillomavirus (HPV) testing is more sensitive than cytology for detecting precancer. However, reports of rare HPV-negative, cytology-positive cancers are motivating continued use of both tests (cotesting) despite increased testing costs. Methods: We quantified the detection of cervical precancer and cancer by cotesting compared with HPV testing alone at Kaiser Permanente Northern California (KPNC), where 1 208 710 women age 30 years and older have undergone triennial cervical cotesting since 2003...
November 14, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29135862/management-of-sigmoid-sinus-associated-pulsatile-tinnitus-a-systematic-review-of-the-literature
#2
Alan C Wang, Avery N Nelson, Cassandra Pino, Peter F Svider, Robert S Hong, Eleanor Chan
OBJECTIVES: Although studies demonstrate 4 to 20% of patients with pulsatile tinnitus (PT) have associated sigmoid sinus anomalies, no consensus exists regarding optimal management. Our objective was to perform a systematic review exploring surgical and endovascular intervention of PT caused by sigmoid sinus anomalies. DATA SOURCES/EXTRACTION: A systematic review was performed using the Preferred Reporting Systems for Systematic Reviews and Meta-Analysis guidelines for reporting of results, with a target population encompassing patients with PT and either sigmoid sinus diverticulum or sigmoid wall dehiscence...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29125945/periodic-eeg-patterns-in-sporadic-creutzfeld-jakob-disease-can-be-benzodiazepine-responsive-and-be-difficult-to-distinguish-from-non-convulsive-status-epilepticus
#3
Justus Marquetand, Susanne Knake, Adam Strzelczyk, Bernhard J Steinhoff, Holger Lerche, Matthis Synofzik, Niels K Focke
PURPOSE: Periodic discharges in EEG and a history of rapidly progressive dementia are known to be associated with sporadic Creutzfeld-Jakob Disease (sCJD). Doubts regarding this rare but fatal diagnosis can arise, when episodic symptoms (seizures, psychiatric features, speech disturbances) are present and the EEG shows epileptiform discharges within this periodicity. This scenario may indicate non-convulsive status epilepticus (NCSE), which is - in contrast to sCJD - a treatable and frequent condition...
November 4, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29119032/cytomegalovirus-associated-duodenal-ulcer-and-duodenitis-in-a-malnourished-pediatric-patient
#4
Rachel Bernard, Ghanim Aljomah, Emily Klepper, Elizabeth McDonough
Cytomegalovirus (CMV) duodenitis is a rare occurrence, especially in pediatric patients. A thirteen-month-old female presented to the Emergency Department for a febrile seizure. She was incidentally admitted for severe malnutrition with an initial workup remarkable for only a slight elevation in her ALT at 48. The patient was found to have an oral aversion requiring nasogastric tube feeds for adequate caloric intake. She continued to fail to gain weight and underwent an EGD that demonstrated a duodenal ulcer...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29118481/role-of-cytology-in-early-diagnosis-of-cerebrotendinous-xanthomas
#5
Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features...
October 2017: Journal of Cytology
https://www.readbyqxmd.com/read/29101630/biotin-thiamin-responsive-basal-ganglia-disease-in-siblings
#6
Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Maya Bhat, Naveen Benakappa
Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. It usually presents with encephalopathy and dystonia; if not treated, can progress to quadriparesis and death. Two Indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. Neuroimaging showed signal changes in basal ganglia and thalami. Genetic testing showed a homozygous missense substitution p.Gly23Val (c...
November 4, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29062883/high-dose-chemotherapy-and-stem-cell-rescue-for-salvage-therapy-for-relapsed-malignant-mixed-ovarian-germ-cell-tumor-a-case-report
#7
Sarah Sears, Sareena Singh, Hadi Shojaei, Raymond Redline, Kimberly Resnick
BACKGROUND: Malignant ovarian germ cell tumors are rare, and often treatable with surgery and chemotherapy. Few data are available for treatment of platinum-resistant tumors. CASE: A 31 year old gravida 0 with a 20 cm pelvic mass was found to have a malignant ovarian germ cell tumor after she underwent debulking surgery. She initially responded to chemotherapy; however her AFP began to rise before all cycles were completed. She underwent additional debulking surgery that was again suboptimal...
November 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/29055934/cryptogenic-cirrhosis-and-sitosterolemia-a-treatable-disease-if-identified-but-fatal-if-missed
#8
Fateh Bazerbachi, Erin E Conboy, Taofic Mounajjed, Kymberly D Watt, Dusica Babovic-Vuksanovic, Shailendra B Patel, Patrick S Kamath
Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a recognized manifestation of this disease, and cirrhosis has been reported only once in the medical literature. We describe a fatal case of a 21-year old South Asian male who presented with decompensated cirrhosis, and biochemical abnormalities consistent with sitosterolemia...
October 16, 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/29043964/accuracy-of-diagnosis-criteria-in-patients-with-suspected-diagnosis-of-sporadic-creutzfeldt-jakob-disease-and-detection-of-14-3-3-protein-france-1992-to-2009
#9
Laurene Peckeu, Nicole Delasnerie-Lauprètre, Jean-Philippe Brandel, Dominique Salomon, Véronique Sazdovitch, Jean-Louis Laplanche, Charles Duyckaerts, Danielle Seilhean, Stéphane Haïk, Jean-Jacques Hauw
Diagnostic criteria of Creutzfeldt-Jakob disease (CJD), a rare and fatal transmissible nervous system disease with public health implications, are determined by clinical data, electroencephalogram (EEG), detection of 14-3-3 protein in cerebrospinal fluid (CSF), brain magnetic resonance imaging and prion protein gene examination. The specificity of protein 14-3-3 has been questioned. We reviewed data from 1,572 autopsied patients collected over an 18-year period (1992-2009) and assessed whether and how 14-3-3 detection impacted the diagnosis of sporadic CJD in France, and whether this led to the misdiagnosis of treatable disorders...
October 2017: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/29040196/carcinoid-syndrome-complicating-a-pancreatic-neuroendocrine-tumor-a-case-report
#10
James N Gerson, Ronald M Witteles, Daniel T Chang, Ramin E Beygui, Andrei H Iagaru, Pamela L Kunz
Neuroendocrine tumors (NETs) comprise a heterogeneous group of neoplasms. These tumors can produce a wide variety of hormones that can lead to syndromes of hormone excess, such as carcinoid syndrome. We present the case of a 47-year-old man who presented with right upper quadrant abdominal pain and emesis. He was found to have metastatic pancreatic NET and was treated with systemic chemotherapy. He subsequently developed dyspnea on exertion and was found to have severe right-sided heart disease secondary to elevated levels of serum serotonin...
November 2017: Pancreas
https://www.readbyqxmd.com/read/29026654/population-genetic-structuring-of-methicillin-resistant-staphylococcus-aureus-clone-emrsa-15-within-uk-reflects-patient-referral-patterns
#11
Tjibbe Donker, Sandra Reuter, James Scriberras, Rosy Reynolds, Nicholas M Brown, M Estée Török, Richard James, East Of England Microbiology Research Network, David M Aanensen, Stephen D Bentley, Matthew T G Holden, Julian Parkhill, Brian G Spratt, Sharon J Peacock, Edward J Feil, Hajo Grundmann
Antibiotic resistance forms a serious threat to the health of hospitalised patients, rendering otherwise treatable bacterial infections potentially life-threatening. A thorough understanding of the mechanisms by which resistance spreads between patients in different hospitals is required in order to design effective control strategies. We measured the differences between bacterial populations of 52 hospitals in the United Kingdom and Ireland, using whole-genome sequences from 1085 MRSA clonal complex 22 isolates collected between 1998 and 2012...
July 2017: Microbial Genomics
https://www.readbyqxmd.com/read/29017675/familial-hodgkin-lymphoma
#12
Mahwish Faizan, Rahat Ul Ain Kashif, Saadia Anwar, Mansoor Safdar
Hodgkin Lymphoma (HL) is a lymphoid tumour that represents about 1% of all neoplasms occurring worldwide. HLis the most treatable of childhood malignancies. The etiology of HLis unknown. However, increase risk has been reported in males, with autoimmune diseases, poor socioeconomic status, increased family size, Ebstein Barr Virus (EBV) exposure, congenital or acquired immunodeficiency and those with a family history of HL. Familial HLis rare. The risk of developing HLis increased six times in the siblings of the affected patients...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28993363/rare-postoperative-complication-clostridium-perfringens-septic-shock-following-elective-abdominal-surgery
#13
Michael Bath, Mark McKelvie, Khalid Canna
Postoperative infections are one of the most common complications in general surgery, and while rates have reduced with the routine administration of perioperative antibiotics, around 5% of patients undergoing a surgical procedure will develop an infective complication.(1) The Gram-positive, obligate anaerobe, Clostridium perfringens, is a well-known pathogen that forms part of both the environmental and gastrointestinal flora.(2) While more commonly associated with food poisoning, anaerobic cellulitis and traumatic gas gangrene, rare cases of spontaneous non-traumatic gas gangrene of abdominal viscera have also been recorded...
October 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28988188/enterobius-vermicularis-pinworm-infestation-in-a-child-presenting-with-symptoms-of-acute-appendicitis-a-wriggly-tale
#14
Louise Dunphy, Zoe Clark, Mazhar H Raja
Acute appendicitis is the most common surgical emergency worldwide. However, it can still present a challenging diagnosis especially in the young, elderly and those individuals of reproductive age, thus encompassing a wide spectrum of varied clinical presentations. Parasitic infections of the appendix are a rare cause of acute appendicitis. However, they must be considered in children presenting with abdominal pain. We report a case of Enterobius vermicularis infestation mimicking the features of acute appendicitis in a 10-year-old girl...
October 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28979516/myocardial-infarction-in-intensive-care-units-a-systematic-review-of-diagnosis-and-treatment
#15
REVIEW
Iain Carroll, Thomas Mount, Dougal Atkinson
INTRODUCTION: Patients in the intensive care unit are vulnerable to myocardial injury from a variety of causes, both ischaemic and non-ischaemic. It is challenging for ICU clinicians to apply the conventional guidance concerning diagnosis and treatment. We conducted this review to examine the evidence concerning diagnosis and treatment of myocardial infarction in the ICU. METHODS: A systematic review was performed to identify relevant studies. RESULTS: 19 studies concerning use of ECG, cardiac enzymes, echocardiography and angiography were identified...
November 2016: J Intensive Care Soc
https://www.readbyqxmd.com/read/28971744/benefits-and-drawbacks-of-guanidinoacetic-acid-as-a-possible-treatment-to-replenish-cerebral-creatine-in-agat-deficiency
#16
Sergej M Ostojic
Arginine-glycine amidinotransferase (AGAT) deficiency is a rare inherited metabolic disorder that severely affects brain bioenergetics. Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficiency, creatine treatment might be somewhat limited due to possible shortcomings in performance and transport of creatine to the brain...
October 3, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28958832/gch1-mutations-are-common-in-serbian-patients-with-dystonia-parkinsonism-challenging-previously-reported-prevalence%C3%A2-rates-of-dopa-responsive-dystonia
#17
Valerija Dobričić, Aleksandra Tomić, Vesna Branković, Nikola Kresojević, Milena Janković, Ana Westenberger, Vedrana Milić Rašić, Christine Klein, Ivana Novaković, Marina Svetel, Vladimir S Kostić
BACKGROUND: GTP cyclohydrolase 1-deficient DOPA-responsive dystonia, caused by autosomal dominant mutation in the gene coding for GTP cyclohydrolase 1, is a rare disorder with a reported prevalence of 0.5 per million. A correct diagnosis of DRD is crucial, given that this is an exquisitely treatable neurogenetic disorder. Although genetic testing is now widely available, we hypothesize that DRD is still underdiagnosed and its prevalence underestimated. METHODS: Molecular genetic analysis of the GCH1 gene was performed in a representative cohort of 47 Serbian patients with clinical features of DRD and in their 16 available relatives...
September 18, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28955516/dementia-and-parkinsonism-a-rare-presentation-of-intracranial-dural-arteriovenous-fistulae
#18
Manoj Gopinath, Chinmay Nagesh, K Santhosh, E R Jayadevan
Intracranial dural arteriovenous fistulae (DAVF) are acquired fistulous communications between dural arterial branches and dural venous sinuses or cortical veins with the nidus located within the leaflets of the duramater. Dementia and Parkinsonism are amongst the rarest of clinical presentations in DAVFs and are important to diagnose early, being treatable with timely intervention. We present an interesting case of a patient who presented with rapidly progressive dementia and features of parkinsonism who was diagnosed to have extensive DAVF and made remarkable recovery after embolization of the fistulae...
September 2017: Neurointervention
https://www.readbyqxmd.com/read/28940342/physician-assisted-death-and-severe-treatment-resistant-depression
#19
Bonnie Steinbock
Should people suffering from untreatable psychiatric conditions be eligible for physician-assisted death? This is possible in Belgium and the Netherlands, where PAD for psychiatric conditions is permitted, though rare, so long as the criteria of due care are met. Those opposed to all instances of PAD point to Belgium and the Netherlands as a dark warning that once PAD is legalized, restricting it will prove impossible because safeguards, such as the requirement that a patient be terminally ill, will inevitably be eroded or discarded...
September 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28929236/-criteria-for-treating-mrsa-in-sputum
#20
REVIEW
J Lorenz, M Unnewehr, B Schaaf, S Gatermann
Methicillin-resistant strains of Staphylococcus aureus (MRSA) are of particular significance for the management of patients with airway infections, since the disease course is often complicated and treatment rendered difficult by multiple resistance. Their prevalence is now slowly declining, but still alarmingly high. Hospital-acquired infections are predominant, but hospital-associated and community-acquired infections do occur, as do rare infections with livestock-acquired strains. Non-nosocomial strains are characterized by different pathogenic factors and a different spectrum of antibacterial resistance; they often have a threatening disease course...
November 2017: Der Internist
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