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https://www.readbyqxmd.com/read/28904921/hashimoto-s-encephalitis-rare-manifestation-of-hypothyroidism
#1
Manish Gutch, Annesh Bhattacharjee, Sukriti Kumar, Durgesh Pushkar
Hashimoto's encephalitis is a rare, heterogeneous and completely treatable form of neuroendocrine disorder manifesting with seizures, stroke-like episodes, encephalopathy, dementia and variable neuropsychiatric manifestations. It is generally associated with a background of Hashimoto's Thyroiditis, and the patient has high titers of antithyroid antibodies, especially antithyroid peroxidase antibodies. This entity responds dramatically to corticosteroids, hence should be always considered and excluded while treating a patient with encephalopathy in the background of a thyroid disease...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904472/a-rare-but-treatable-cause-of-paroxysmal-nonkinesigenic-choreoathetosis
#2
Sahil Mehta, Dheeraj Khurana, Gourav Jain, Vivek Lal
No abstract text is available yet for this article.
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28902093/bile-acid-synthesis-disorders-in-arabs-a-10-year-screening-study
#3
Abdulrahman Al-Hussaini, Kenneth D R Setchell, Bader AlSaleem, James E Heubi, Khurram Lone, Anne Davit-Spraul, Emmanuel Jacquemin
OBJECTIVES: Early diagnosis of bile acid synthesis disorders (BASD) is important because, untreated, these conditions can be fatal. Our objectives were to screen children with cholestasis or unexplained liver disease for BASD and in those with confirmed BASD to evaluate the effectiveness of cholic acid therapy. METHODS: A routine serum total bile acid measurement was performed on children with cholestasis, liver cirrhosis, and liver failure. Patients were screened for BASD by fast atom bombardment ionization-mass spectrometry (FAB-MS) analysis of urine, and molecular analysis confirmed diagnosis...
September 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#4
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28879899/hyperekplexia-a-forgotten-diagnosis-clinched-by-next-generation-sequencing
#5
Meenakshi Lallar, Anukool Srivastava, Shubha R Phadke
Hyperekplexia is a rare early neonatal onset, potentially treatable, neurological disorder, characterized by a triad of immediate neonatal-onset stiffness, an exaggerated startle reflex in response to tactile or auditory stimuli followed by short periodical generalized stiffness. It is a monogenic genetically heterogeneous condition which can be potentially life threatening due to apneic episodes and is usually misdiagnosed as seizures. Here, we report two female siblings with hyperekplexia who were being treated by multiple antiepileptic medications for seizure-like episodes...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28861905/treatable-inherited-rare-movement-disorders
#6
REVIEW
H A Jinnah, Alberto Albanese, Kailash P Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J de Koning, Alberto J Espay, Victor Fung, Pedro J Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C Rodriguez Oroz, Mayela Rodríguez-Violante, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M Gatto
There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects...
September 1, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28858740/solid-pseudopapillary-tumor-of-the-pancreas-experience-at-a-tertiary-care-centre-of-northern-india
#7
Namita Bhutani, Pradeep Kajal, Sham Singla, Vijender Sangwan
INTRODUCTION: Solid pseudopapillary tumor (SPT) of the pancreas is rare, accounting for 0.13-2.7% of all pancreatic tumors. It is unique, has low malignant potential and predominantly affects young women. Radiological and pathological studies have revealed that the tumor is quite different from other pancreatic tumors. But the cell origin of SPT and tumorigenesis are still enigmatic. Abdominal mass is the most common presenting symptom. Due to the paucity of the number of cases, the natural history of the disease is not fully understood...
August 24, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28845389/ebv-driven-natural-killer-cell-disease-of-the-central-nervous-system-presenting-as-subacute-cognitive-decline
#8
Francesca M Brett, Richard Flavin, Daphne Chen, Teresa Loftus, Seamus Looby, Allan McCarthy, Cillian de Gascun, Elaine S Jaffe, Nurul Nor, Mohsen Javadpour, Dominick McCabe
Brain biopsy in patients presenting with subacute encephalopathyis never straightforward and only undertaken when a 'treatable condition' is a realistic possibility. This 63 year old right handed, immunocompetent Caucasian woman presented with an 8 month history of rapidly progressive right-sided hearing impairment, a 4 month history of intermittent headaches, tinnitus, 'dizziness', dysphagia, nausea and vomiting, with the subsequent evolution of progressive gait ataxia and a subacute global encephalopathy...
November 2017: Human Pathology (New York)
https://www.readbyqxmd.com/read/28843651/recognition-and-prevention-of-nosocomial-malnutrition-a-review-and-a-call-to-action
#9
REVIEW
Lisa L Kirkland, Erin Shaughnessy
Nosocomial malnutrition in hospitalized adults is a morbid, costly, and potentially preventable and treatable problem. Although recognized as contributing to many serious complications of hospitalization, malnutrition is often missed when present on admission, and rarely diagnosed if it occurs during hospital stay. Many routine clinical practices such as holding nutrition for testing or failing to address poor intake, when added to acute inflammatory disease states, cause rapid deterioration in nutritional status in up to 70% of inpatients...
August 23, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28841800/current-management-of-primary-central-nervous-system-lymphoma
#10
Jon Glass
Primary central nervous system lymphoma (PCNSL) is a rare but treatable disease. The hallmark therapy is based on the use of high-dose intravenous methotrexate (HDMTX), with clinical trial data suggesting that a more aggressive and targeted chemoimmunotherapeutic approach, to include the use of targeted therapy with rituximab (RTX) and the addition of other chemotherapeutic agents, may improve prognosis and reduce or defer the need for radiation therapy. Understanding of the molecular basis of tumor growth and proliferation may allow for the use of new targeted agents...
August 2017: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/28839426/liver-and-the-defects-of-cholesterol-and-bile-acids-biosynthesis-rare-disorders-many-diagnostic-pitfalls
#11
EDITORIAL
Gaetano Corso, Antonio Dello Russo, Monica Gelzo
In recent decades, biotechnology produced a growth of knowledge on the causes and mechanisms of metabolic diseases that have formed the basis for their study, diagnosis and treatment. Unfortunately, it is well known that the clinical features of metabolic diseases can manifest themselves with very different characteristics and escape early detection. Also, it is well known that the prognosis of many metabolic diseases is excellent if diagnosed and treated early. In this editorial we briefly summarized two groups of inherited metabolic diseases, the defects of cholesterol biosynthesis and those of bile acids...
August 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28820556/unusual-locations-for-cardiac-papillary-fibroelastomas
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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