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https://www.readbyqxmd.com/read/28540837/enterovesical-fistula-after-enteric-conversion-of-a-bladder-drained-pancreatic-allograft-a-case-report
#1
Clifford Akateh, Amer Rajab, Mitchell Henry, Ashraf El-Hinnawi
Since the inception of pancreas transplant as a treatment for type 1 diabetes mellitus, there has been considerable debate about the best way to manage exocrine secretions and monitor patients for graft rejection. For patients who undergo bladder exocrine drainage of a pancreatic allograft, a bladder-to-enteric drainage conversion can serve as a rescue procedure in case of anastomotic leaks or other complications. However, this procedure is associated with its own complications, including a rarely described enterovesical fistula...
May 22, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28533640/fdg-pet-ct-need-for-vigilance-in-patients-treated-with-bleomycin
#2
Anna N Paschali, Gopinath Gnanasegaran, Gary J Cook
Bleomycin-induced interstitial lung disease is not a rare complication of treatment and may prove to be fatal if not suspected early in its course. As FDG PET-CT has become an essential clinical tool for interim and end-of-treatment response assessment in oncology, it is important that radiologists/nuclear medicine specialists be aware of the features of this potentially treatable condition so that treatment can be instigated during an early reversible phase before pulmonary damage has occurred. Herein, we report two cases of bleomycin toxicity featuring different patterns on the treatment-response assessment FDG PET-CT scan...
April 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28526280/an-overview-of-medical-risk-factors-for-childhood-psychosis-implications-for-research-and-treatment
#3
REVIEW
Marianna Giannitelli, Angèle Consoli, Marie Raffin, Renaud Jardri, Douglas F Levinson, David Cohen, Claudine Laurent-Levinson
OBJECTIVE: Psychotic disorders in childhood and early adolescence often progress to chronic schizophrenia, but in many cases there are diagnosable medical and genetic causes or risk factors. We reviewed our clinical experience and the relevant literature to identify these factors and to define their clinical features, appropriate work-up and treatment. METHOD: We reviewed the results of comprehensive medical evaluations of 160 psychotic children and adolescents in our center...
May 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#4
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28499810/prevalence-of-late-onset-pompe-disease-in-portuguese-patients-with-diaphragmatic-paralysis-dipper-study
#5
M J Guimarães, J C Winck, B Conde, A Mineiro, M Raposo, J Moita, A Marinho, J M Silva, N Pires, S André, C Loureiro
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes...
May 9, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28490684/-cerebral-venous-sinus-thrombosis-following-cisplatin-based-chemotherapy-for-testicular-tumor
#6
Manabu Ishihara, Koichi Satoh, Mami Hanaoka, Kazuhito Matsuzaki, Taku Matsuda, Hajimu Miyake, Hitoshi Niki
A man in his 30s who presented with an enlarged right testicle was diagnosed with a germ cell tumor via orchiectomy. Adjuvant chemotherapy with cisplatin, etoposide and bleomycin(BEP)was initiated. He developed a headache 8 days later, followed by neurological deficits 10 days later. Magnetic resonance imaging(MRI)and magnetic resonance venography(MRV)showed thrombotic occlusion at the superior sagittal sinus. Anticoagulant therapy with heparin was initiated. However, a generalized epileptic seizure occurred 11 days later, and an antiepileptic drug therapy was initiated...
May 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28482042/bap1-mutations-in-high-grade-meningioma-implications-for-patient-care
#7
Ganesh M Shankar, Sandro Santagata
We have recently shown that the BAP1 (BRCA1-associated protein-1) tumor suppressor gene is inactivated in a subset of clinically-aggressive meningiomas that display rhabdoid histomorphology. Immunohistochemistry for BAP1 protein provides a rapid and inexpensive method for screening suspected cases. Notably, some patients with BAP1-mutant meningiomas have germline BAP1 mutations and the BAP1 tumor predisposition syndrome (BAP1-TPDS). It appears that nearly all patients with germline BAP1 mutations develop malignancies by age 55, most frequently uveal melanoma, cutaneous melanoma, pleural or peritoneal malignant mesothelioma or renal cell carcinoma, although other cancers have also been associated with the BAP1-TPDS...
May 8, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28479590/cerebral-granulomatous-inflammation-secondary-to-hydrophilic-polymer-embolization-following-thrombectomy
#8
Craig Meiers, Yoftahe Abebe, Neville M Alberto, John Riedinger, Dane A Breker, Michael Manchak, Alexander Drofa, Corey Teigen
BACKGROUND Given the recent completion of multiple trials demonstrating the benefit of endovascular mechanical thrombectomy for select patients with proximal large artery occlusive ischemic strokes, there has been a large increase in the performance of these procedures. In the context of increased thrombectomy performance, there have also been increased reports of rare occurrences of granulomatous inflammatory response to the hydrophilic polymer which coat many of these interventional devices. CASE REPORT A 59-year-old female presented with a complete occlusion of her right proximal middle cerebral artery (MCA) and imaging showed a large area of penumbra...
May 8, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28473081/acr-appropriateness-criteria-%C3%A2-breast%C3%A2-pain
#9
Peter M Jokich, Lisa Bailey, Carl D'Orsi, Edward D Green, Anna I Holbrook, Su-Ju Lee, Ana P Lourenco, Martha B Mainiero, Linda Moy, Karla A Sepulveda, Priscilla J Slanetz, Sunita Trikha, Monica M Yepes, Mary S Newell
Breast pain (or tenderness) is a common symptom, experienced by up to 80% of women at some point in their lives. Fortunately, it is rarely associated with breast cancer. However, breast pain remains a common cause of referral for diagnostic breast imaging evaluation. Appropriate workup depends on the nature and focality of the pain, as well as the age of the patient. Imaging evaluation is usually not indicated if the pain is cyclic or nonfocal. For focal, noncyclic pain, imaging may be appropriate, mainly for reassurance and to identify treatable causes...
May 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/28464723/genetic-landscape-of-congenital-myasthenic-syndromes-from-turkey-novel-mutations-and-clinical-insights
#10
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, Gökhan Uyanik, Erhan Bayram, Göknur Haliloğlu, Ayşe İpek Polat, Müge Ayanoğlu, Derya Okur, Ayşe Fahriye Tosun, Gül Serdaroğlu, Sanem Yilmaz, Haluk Topaloğlu, Banu Anlar, Sebahattin Cirak, Andrew G Engel
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28462560/seizures-due-to-insulinoma-a-rare-but-treatable-cause
#11
Shubha Bhalla, Vps Punia, M Narang, Pushpa Kumari, Saurabh Gupta
Hypoglycemia can cause multiple neuroglycopenic symptoms; seizures being one of them. Misdiagnosis and delay in treatment are common and prolonged hypoglycemia can lead to permanent neurological deficit or fatal coma. Hypoglycemia caused by an insulinoma is a readily treatable condition that should be considered in the differential diagnosis of intractable seizures. The following case report highlights the need for careful reassessment of all seizures that are atypical and refractory to medication.
March 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28460343/a-patient-with-autoimmune-limb-girdle-myasthenia-and-a-brief-review-of-this-treatable-condition
#12
REVIEW
Domizia Vecchio, Claudia Varrasi, Cristoforo Comi, Paolo Ripellino, Roberto Cantello
Limb-girdle myasthenia gravis (LGM) is an uncommon clinical picture related to an antibody-mediated blockage of the neuromuscular junction. We describe a 44-year old man who presented with a proximal limbs' weakness that resembled a myopathic disorder. The repetitive nerve stimulation at 3Hz showing a decremental response suggested myasthenia, that was confirmed by the presence of an increased titer of anti-acetylcholine receptor antibodies (AChRAbs), and of hyperplastic foci at thymus histology. Symptomatic treatment with pyridostigmine was not effective, whereas the patient improved adding Azathioprine...
April 23, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28458768/early-diagnosis-in-familial-glucocorticoid-deficiency
#13
Fatima Al Jneibi, Tawfiq Hen, Jaishen Rajah, Rajendran Nair
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips...
2017: Dermato-endocrinology
https://www.readbyqxmd.com/read/28424322/kaposi-sarcoma-inflammatory-cytokine-syndrome-kics-a-rare-but-potentially-treatable-condition
#14
Michael Karass, Emily Grossniklaus, Talal Seoud, Sanjay Jain, Daniel A Goldstein
Kaposi sarcoma inflammatory cytokine syndrome (KICS) is a newly-described condition affecting individuals who are HIV-positive and are infected with human herpesvirus 8 (HHV-8). This is a syndrome that in some ways mimics severe sepsis with associated acute respiratory distress syndrome, possibly requiring a ventilator and vasopressor support. However, unlike severe sepsis, antibiotics provide no benefit. Management of KICS has not been fully elucidated because of its high mortality rate. However, the syndrome has been successfully treated in some cases with immunomodulatory therapy...
May 2017: Oncologist
https://www.readbyqxmd.com/read/28423095/first-reported-case-of-fulminant-tb-with-progression-of-infection-from-lungs-to-the-genitourinary-region
#15
Tatjana Adzic-Vukicevic, Aleksandra Barac, Aleksandra Dudvarski Ilic, Radmila Jankovic, Jovan Hadzi-Djokic, Dragica Pesut
Although tuberculosis (TB) is a curable disease, it continues to be one of the leading infections associated with death in the world. Extra-pulmonary TB (EPTB) occurs in approximately 10% of the total cases, presenting with lymph nodes, pleura, bone and genitourinary tract as the most common locations. Genitourinary tuberculosis, the second most common EPTB, is very difficult to diagnose unless there is a high index of suspicion. Isolated TB orchitis or prostatitis without clinical evidence of renal involvement is a rare entity among genitourinary tuberculosis...
April 13, 2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28408628/dentate-update-imaging-features-of-entities-that-affect-the-dentate-nucleus
#16
REVIEW
K M Bond, W Brinjikji, L J Eckel, D F Kallmes, R J McDonald, C M Carr
The dentate nucleus is a cerebellar structure involved in voluntary motor function and cognition. There are relatively few entities that affect the dentate, and the clinical features of these conditions are often complex and nonspecific. Because these entities are rarely encountered, the formulation of a differential diagnosis can be difficult. Many of the conditions are reversible or treatable with early intervention. Therefore, it is important to recognize classic clinical presentations and their associated characteristic imaging findings...
April 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28405088/dural-arteriovenous-fistula-as-a-treatable-dementia
#17
Ikponmwosa Enofe, Ike Thacker, Sadat Shamim
Dementia is a chronic loss of neurocognitive function that is progressive and irreversible. Although rare, dural arteriovenous fistulas (DAVFs) could present with a rapid decline in neurocognitive function with or without Parkinson-like symptoms. DAVFs represent a potentially treatable and reversible cause of dementia. Here, we report the case of an elderly woman diagnosed with a DAVF after presenting with new-onset seizures, deteriorating neurocognitive function, and Parkinson-like symptoms.
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28400903/neurosarcoidosis-presenting-with-recurrent-strokes-a-case-report-and-literature-review
#18
Naheed Raza, Karisa C Schreck
Neurosarcoidosis is a rare but important cause of stroke as it is treatable. Cases reported thus far have primarily been in young people who are relatively healthy. Here we report the case of a 73-year-old woman presenting with recurrent strokes and high-grade intracranial stenosis caused by probable neurosarcoidosis. This is unique as neurosarcoidosis is not usually considered as an etiology for recurrent strokes in our patient's age-group. We review and categorize published cases of neurosarcoidosis causing stroke and describe a classification scheme for certainty of diagnosis...
April 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28356090/anca-vasculitis-in-a-patient-with-alport-syndrome-a-difficult-diagnosis-but-a-treatable-disease
#19
Valentine Gillion, Michel Jadoul, Selda Aydin, Nathalie Godefroid
BACKGROUND: Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases. The management of this case highlights the importance of a systematic approach when investigating the unexpected unfavourable evolution of a known glomerulopathy. CASE PRESENTATION: A-17 year old caucasian boy with a genetically proven X-linked Alport syndrome presented with progressive dyspnea, fatigue and pallor...
March 29, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28355320/clinical-characteristics-of-patients-with-cerebellar-ataxia-associated-with-anti-gad-antibodies
#20
Tiago Silva Aguiar, Andrea Fragoso, Carolina Rouanet de Albuquerque, Patrícia de Fátima Teixeira, Marcus Vinícius Leitão de Souza, Lenita Zajdenverg, Soniza Vieira Alves-Leon, Melanie Rodacki, Marco Antônio Sales Dantas de Lima
Methods: This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result: Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2...
March 2017: Arquivos de Neuro-psiquiatria
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