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https://www.readbyqxmd.com/read/27903000/fournier-s-gangrene-of-the-penis-in-a-12-year-old-patient-secondary-to-phimosis
#1
Luther Ward, Daniel Eisenson, Jean-Louis Fils
We report a case of Fournier's gangrene in a 12-year-old boy from St. Boniface Hospital in Fond-des-Blancs, Haiti. Fournier's gangrene, a fulminant necrotizing fasciitis of the penis and scrotum, is a rare and life-threatening infection that requires hospitalization, broad-spectrum antibiotics, and surgical debridement.1-3 It is usually associated with impaired cellular immunity due to systemic disorders such as diabetes and liver disease.4,5 This patient had none of those risk factors, but had severe, longstanding phimosis, for which circumcision had been recommended many years before...
December 1, 2016: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/27894667/nuclear-pkm2-expression-an-independent-risk-factor-for-er-after-curative-resection-of-hepatocellular-carcinoma
#2
Fangtian Fan, Hongyan Wu, Zhaoguo Liu, Xianbang Hou, Wenxin Chen, Aiyun Wang, Yin Lu
Surgical resection, providing a long-term survival of hepatocellular carcinoma (HCC) patients, is regarded as one of the standard curative treatments of HCC if the tumor is resectable. However, 50% patients develop early recurrence (ER) during the first two years after operation, which are more diffuse and rarely treatable with unsatisfactory long-term survival. Unfortunately, the underlying mechanisms of ER after curative resection and the molecular markers with predictive and prognostic significance have never been identified yet...
November 25, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27884763/acox2-deficiency-an-inborn-error-of-bile-acid-synthesis-identified-in-an-adolescent-with-persistent-hypertransaminasemia
#3
Maria J Monte, Marta Alonso-Peña, Oscar Briz, Elisa Herraez, Carmen Berasain, Josepmaria Argemi, Jesus Prieto, Jose J G Marin
BACKGROUND: Acyl-CoA oxidase (ACOX2) is involved in the shortening of C27 cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of peroxisomal enzymes involved in bile acid biosynthesis have been described. These conditions are usually characterized by serious hepatic and/or neurologic manifestations. AIMS: We have investigated bile acid profile and enzymes involved in their biosynthesis in the first reported case of ACOX2 deficiency identified in an adolescent boy with persistent unexplained hypertransaminasemia and his family...
November 21, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27879304/aortic-valve-fibroelastoma-a-rare-cause-of-stroke
#4
Vivek Kumar, Parita Soni, Arsalan Hashmi, Manfred Moskovits
The prevalence of primary cardiac tumours varies from 0.02% to 0.45%. Cardiac papillary fibroelastoma (CPF) is a rare tumour diagnosed incidentally on imaging. The clinical manifestations result from thromboembolisation and include transient ischaemic attack, stroke and sudden cardiac death. We present a patient aged 57 years with CPF arising from the aortic valve. The patient presented with right hemiparesis due to acute stroke. He received tissue plasminogen activator with complete resolution of neurological symptoms...
November 22, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#5
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27854092/nitrous-oxide-induced-subacute-combined-degeneration-presenting-with-dystonia-and-pseudoathetosis-a-case-report
#6
Hung-Ju Chen, Chih-Shan Huang
PURPOSE: Nitrous oxide (N2O) is neurotoxic by interfering with vitamin B12 bioavailability. The clinical picture is indistinguishable to that of subacute combined degeneration (SCD). A movement disorder might occur though it is not a characteristic feature. We report a patient with N2O-induced SCD, exhibiting a combination of different involuntary movements. CASE REPORT: A 20-year-old woman presented with one month of progressive unsteady gait, involuntary movements and tingling sensation in a stocking-glove distribution...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27848124/reversible-cerebral-vasoconstriction-syndrome-and-posterior-reversible-encephalopathy-syndrome-associated-with-intracranial-hypotension
#7
Katharina Feil, Robert Forbrig, Franziska S Thaler, Julian Conrad, Suzette Heck, Franziska Dorn, Hans-Walter Pfister, Andreas Straube
BACKGROUND: Reversible cerebral vasoconstriction syndrome (RCVS) and posterior reversible encephalopathy syndrome (PRES) are both rare disorders. The pathophysiology of both diseases is not yet fully understood. METHODS: We report the unique case of a 19-year-old comatose woman who was brought to the ER after a series of generalized tonic-clonic seizures 6 days post peridural anesthesia for cesarean section. Vital signs and initial laboratory testing including urine analysis and drug screening were unremarkable...
November 15, 2016: Neurocritical Care
https://www.readbyqxmd.com/read/27842902/pseudoaneurysm-after-transpedal-arterial-access-for-evaluation-and-treatment-of-peripheral-arterial-disease
#8
Apurva Patel, Roosha Parikh, Yili Huang, Michael Liou, Justin Ratcliffe, Olivier F Bertrand, Joseph Puma, Tak W Kwan
BACKGROUND: There has been an increasing use of transpedal arterial access (TPA) for evaluation and treatment of peripheral arterial disease (PAD) over a transfemoral approach (TFA). TPA, it is expected to be associated with better patient comfort, less recovery time and possibly less access site complications compared to standard TFA. Access site complications and pseudoaneurysm (PSA) associated with the TPA have not been previously reported. OBJECTIVE: Here we report a series of pedal artery PSA related to access site complicating TPA catheterization...
October 17, 2016: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/27833524/idiopathic-spinal-cord-herniation-a-case-report
#9
Abdullah Alkhamees, Francois Proust
Idiopathic spinal cord herniation (ISCH) is a rare cause of progressive spinal myelopathy, which frequently presents as Brown-Sequard syndrome. A 50 year old woman consulted for difficulty in walking. On examination, the patient reported sensory deficit of temperature on the left side, associated with diminished anal sensitivity. Nine months before consultation, a walking disorder began disturbing the activities of everyday life. A single case report with surgical treatment outcome. Idiopathic spinal cord herniation is a potentially treatable condition, which should be diagnosed early and treated...
October 2016: International Journal of Health Sciences
https://www.readbyqxmd.com/read/27813349/pharyngoesophageal-dysphagia-an-under-recognised-potentially-fatal-but-very-treatable-feature-of-systemic-sclerosis
#10
C Rajapakse
Dysfunction of upper pharyngoesophageal region in systemic sclerosis (SSc) is infrequent, poorly recognised and poorly documented in the literature. Yet, it can have very distressing and even fatal consequences that may yet be very responsive to appropriate management. This paper documents the findings and outcome of management of a series of five patients with SSc who had pharyngoesophageal dysphagia to demonstrate the above. Following the documentation of a patient with SSc that had severe pharyngoesophageal dysphagia in 1981, this paper reports the findings in five patients with SSc presenting thereafter, having the same manifestations...
November 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/27773590/variant-type-of-posterior-reversible-encephalopathy-syndrome-with-diffuse-cerebral-white-matter-and-brainstem-involvement-associated-with-intracranial-hemorrhage
#11
Yin-Xi Zhang, Yang Zheng, Bi-Jun Zhang, Yun Zhang, Mei-Ping Ding, Bao-Rong Zhang
Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome characterized by reversible vasogenic edema typically at a posterior location of the cerebrum. PRES with prominent brainstem or basal ganglia involvement is defined as central-variant, which is rare. We herein report an atypical case of a 35-year-old man with a 2-year history of untreated hypertension who complained of recurrent dizziness. The patient presented with brainstem and diffuse white matter involvement associated with intracranial hemorrhage and recovered fully after therapy...
October 20, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27761288/a-case-of-biotinidase-deficiency-in-an-adult-with-respiratory-failure-in-the-intensive-care-unit
#12
Zerrin Demirtürk, Evren Şentürk, Abbas Köse, Perihan Ergin Özcan, Lütfi Telci
BACKGROUND: Biotinidase deficiency (BD) is a rare, inherited autosomal recessive disorder that is treatable within childhood. We present a patient with pneumonia and respiratory acidosis who was not diagnosed with any systemic disorders; the patient was finally diagnosed as BD. CASE REPORT: A thirty-year-old woman was admitted to the emergency department with respiratory failure that had persisted for a few days and progressively weakening over the previous six months...
September 2016: Balkan Medical Journal
https://www.readbyqxmd.com/read/27746435/treatable-bedridden-elderly-recovery-from-flexion-contracture-after-cortisol-replacement-in-a-patient-with-isolated-adrenocorticotropic-hormone-deficiency
#13
Takamasa Tanaka, Norihiko Terada, Yoshiki Fujikawa, Takushi Fujimoto
Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disorder with diverse clinical presentations. A 79-year-old man was bedridden for six months due to flexion contractures of the bilateral hips and knees, along with hyponatremia. He was diagnosed with IAD based on the results of endocrine tests. After one month of corticosteroid replacement, he recovered and was able to stand up by himself. Although flexion contracture is a rare symptom of IAD, steroid replacement therapy may be effective, even for seemingly irreversibly bedridden elderly patients...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27722099/congenital-toxoplasmosis-clinical-features-outcomes-treatment-and-prevention
#14
Sarman Singh
Toxoplasmosis is caused by a coccidian parasite, Toxoplasma gondii. The parasite is highly prevalent both in humans and in warm-blooded animals. Cat family animals are definitive host, and these animals excrete the infective oocysts in their feces. Humans, though not definitive host, get infection by consuming water or food contaminated with cat feces. Rarely, infection can also take place through transfusing the infected blood, through transplantation of infected organs, or transplacentally from infected mother to fetus...
July 2016: Tropical Parasitology
https://www.readbyqxmd.com/read/27708545/chromosomal-abnormality-of-acute-promyelocytic-leukemia-other-than-pml-rara-a-case-report-of-acute-promyelocytic-leukemia-with-del-5q
#15
Osamu Imataki, Makiko Uemura
BACKGROUND: The recent study described a better outcome in acute promyelocytic leukemia patients treated with all-trans retinoic acid and arsenic oxide compared to those treated with all-trans retinoic acid combined with conventional chemotherapy. The pivotal study indicated that favorable-risk acute promyelocytic leukemia patients can be cured without any cytotoxic chemotherapy. Even high-risk patients are treatable with cytotoxic agents. Acute promyelocytic leukemia does not develop only by the dedifferentiation caused by PML-RARA...
2016: BMC Clinical Pathology
https://www.readbyqxmd.com/read/27693768/the-role-of-intraoperative-cerebral-angiography-in-transorbital-intracranial-penetrating-trauma-a-case-report-and-literature-review
#16
Jonathan P Riley, Andrew B Boucher, Denise S Kim, Daniel L Barrow, Matthew R Reynolds
BACKGROUND: Transorbital intracranial penetrating trauma (TIPT) with a retained intracranial foreign body is a rare event lacking a widely-accepted diagnostic and therapeutic algorithm. Intraoperative catheter angiography (IOA) has been advocated by some authorities to rule out cerebrovascular injury prior and/or subsequent to removal of the object, but no standard of care currently exists. CASE DESCRIPTION: A 19-year-old male was involved in a construction site accident whereby a framing nail penetrated the left globe, traversed the lateral bony orbit, and terminated in the mid-temporal lobe...
September 28, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27659738/scn8a-epileptic-encephalopathy-detection-of-fetal-seizures-guides-multidisciplinary-approach-to-diagnosis-and-treatment
#17
Melanie A McNally, Julia Johnson, Thierry A Huisman, Andrea Poretti, Kristin W Baranano, Ahmet A Baschat, Carl E Stafstrom
BACKGROUND: SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). There are currently no clear genotype-phenotype correlations to help guide patient counseling and management. PATIENT DESCRIPTION: We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures...
August 16, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27650626/creatine-deficiency-syndrome-could-be-missed-easily-a-case-report-of-guanidinoacetate-methyltransferase-deficiency-presented-with-neurodevelopmental-delay-seizures-and-behavioral-changes-but-normal-structural-mri
#18
Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova, Mariya Ivanova
A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband...
September 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27642301/idiopathic-sclerosing-encapsulating-peritonitis-a-rare-cause-of-subacute-intestinal-obstruction
#19
Mei Chin Lim, Niketa Chandrakant Chotai, Danilo Medina Giron
We present a case of a previously healthy 50-year-old gentleman who had recurrent vomiting and abdominal pain of two-month duration. The patient was subsequently diagnosed with abdominal cocoon on computed tomography. Idiopathic sclerosing encapsulating peritonitis, also known as abdominal cocoon, is a rare cause of small bowel obstruction. Visualization of variable encasement of the small bowel loops by a characteristic membranous sac, either preoperatively with cross-sectional imaging or intraoperatively, is the key to diagnosis...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27621386/teaching-neuroimages-an-extremely-rare-cause-of-treatable-acute-encephalopathy
#20
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
September 13, 2016: Neurology
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