keyword
MENU ▼
Read by QxMD icon Read
search

rare treatable

keyword
https://www.readbyqxmd.com/read/28717730/multicompartmental-trigeminal-schwannomas-dumbbell-tumors-revisited
#1
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
#2
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
#3
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...
July 12, 2017: Neurology
https://www.readbyqxmd.com/read/28698240/beyond-hormone-replacement-quality-of-life-in-women-with-congenital-hypogonadotropic-hypogonadism
#4
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, Andrew 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...
July 11, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
46676
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"