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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
#1
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
#2
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...
June 12, 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28606721/why-does-cervical-cancer-occur-in-a-state-of-the-art-screening-program
#3
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
https://www.readbyqxmd.com/read/28577739/mitochondrial-cytopathies-and-the-kidney
#4
REVIEW
Francesco Emma, Leonardo Salviati
Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical in a significant number of patients or is underestimated due to the severity of other clinical manifestations. Until recently, these diseases were thought to develop primarily in pediatric patients but patients that become symptomatic only in adulthood are now well recognized...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28569348/black-tar-heroin-skin-popping-as-a-cause-of-wound-botulism
#5
Ihtesham A Qureshi, Mohtashim A Qureshi, Mohammad Rauf Afzal, Alberto Maud, Gustavo J Rodriguez, Salvador Cruz-Flores, Darine Kassar
BACKGROUND: Botulism is a rare potentially fatal and treatable disorder caused by a bacteria-produced toxin that affects the presynaptic synaptic membrane resulting in a characteristic neuromuscular dysfunction. It is caused by either the ingestion of the toxin or the bacteria, inhalation, or wound infection. We present our observations with a descriptive case series of wound botulism secondary to black tar heroin (BTH) injection. METHODS: We report a retrospective single-center case series of 15 consecutive cases of wound botulism presenting to University Medical Center of El Paso...
May 31, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28568744/structured-risk-assessment-for-reduction-of-multiple-risk-outcomes-in-a-secure-mental-health-setting-use-of-the-start
#6
Cevher Gunenc, Laura E O'Shea, Geoffrey L Dickens
BACKGROUND: Structured risk assessment is commonly used in secure settings to aid prediction and prevention of risky behaviours; the expected benefits have rarely been investigated. AIMS: The aim of the study is to determine whether adverse outcomes (physical and verbal aggression, self-harm, victimisation, self-neglect, unauthorised leave and substance abuse) reduced after patients were assessed with the Short-term Assessment of Risk and Treatability (START). METHODS: In a naturalistic study, anonymised demographic and clinical information was collected from 50 male patients...
June 1, 2017: Criminal Behaviour and Mental Health: CBMH
https://www.readbyqxmd.com/read/28552139/endovascular-treatment-of-spinal-arteriovenous-malformations
#7
Waleed Brinjikji, Giuseppe Lanzino
Spinal arteriovenous malformations (AVMs) are a rare but treatable cause of myelopathy and spinal cord hemorrhage. The clinical presentation and ideal treatment of these lesions vary widely, primarily due to differences in anatomic and angioarchitectural features. Six well-defined types of fistula have been defined: (1) intradural dorsal AVM; (2) intramedullary AVM; (3) extradural-intradural AVM; (4) intradural ventral AVF; (5) extradural/epidural AVF; and (6) conus medullaris AVM. Each of these lesions have unique clinical presentations and variable natural histories and endovascular treatment options...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28551737/recurrent-meningitis
#8
REVIEW
Jon Rosenberg, Benjamin T Galen
PURPOSE OF REVIEW: Recurrent meningitis is a rare clinical scenario that can be self-limiting or life threatening depending on the underlying etiology. This review describes the causes, risk factors, treatment, and prognosis for recurrent meningitis. As a general overview of a broad topic, the aim of this review is to provide clinicians with a comprehensive differential diagnosis to aide in the evaluation and management of a patient with recurrent meningitis. RECENT FINDINGS: New developments related to understanding the pathophysiology of recurrent meningitis are as scarce as studies evaluating the treatment and prevention of this rare disorder...
July 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/28540837/enterovesical-fistula-after-enteric-conversion-of-a-bladder-drained-pancreatic-allograft-a-case-report
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28462560/seizures-due-to-insulinoma-a-rare-but-treatable-cause
#19
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
#20
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...
July 2017: Clinical Neurology and Neurosurgery
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