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https://www.readbyqxmd.com/read/29244686/high-thoracic-disc-herniation-causing-horner-syndrome-with-the-intraoperative-finding-of-conjoined-nerve-root-compression-a-case-report
#1
Amit K Bhandutia, Zachary Zuzek, Matthew J Schessler, Nestor D Tomycz, Daniel T Altman
CASE: A 29-year-old man presented with right medial arm pain with paresthesia, as well as right-sided ptosis, miosis, and anhidrosis. Magnetic resonance imaging revealed a right paracentral disc herniation at the T1-T2 level. The patient underwent a hemilaminectomy with a medial facetectomy through a posterolateral approach to the T1-T2 disc space, followed by a discectomy. Intraoperative findings were notable for a conjoined nerve root. CONCLUSION: Although high thoracic disc herniation is rare, its diagnosis should be considered when patients present with radicular arm pain and Horner syndrome...
January 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29244678/oncogenic-osteomalacia-secondary-to-a-metastatic-phosphaturic-mesenchymal-tumor-in-the-talus-a-case-report-and-review-of-the-literature
#2
Keith T Aziz, Edward F McCarthy, Carol D Morris
CASE: We report the case of a 50-year-old woman with oncogenic osteomalacia secondary to a metastatic phosphaturic mesenchymal tumor (PMT) that presented, to our knowledge, with the first reported lesion in the talus. CONCLUSION: Oncogenic osteomalacia is a rare condition with a unique serum biochemical profile that requires a high index of suspicion for diagnosis. A PMT is a rare neoplasm that can lead to oncogenic osteomalacia through secretion of fibroblast growth factor 23...
April 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29244668/diaphyseal-tibial-soft-tissue-mass-after-total-knee-arthroplasty-a-case-report
#3
Karim Sabeh, Aaron Carter, Andrew E Rosenberg, Raymond Robinson
CASE: A 64-year-old woman had undergone bilateral total knee arthroplasty in 1998. In 2010, she presented with a large, painless, diaphyseal soft-tissue mass of the lower leg. She indicated that she had no history of knee pain, trauma, or infection. Ultimately, the mass was found to be a synovial fluid-filled cyst that communicated with the knee joint, which was a result of severe osteolysis. CONCLUSION: Large diaphyseal tibial masses in the presence of total knee arthroplasty should raise a high index of suspicion not only for tumors and infections, but also for severe osteolysis...
April 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29242798/anterior-elbow-pain-caused-by-compression-of-the-lateral-antebrachial-cutaneous-nerve
#4
Sean M Booth, Abdulbaset Abosala, Chris Peach
Introduction: The complex anatomy and biomechanics of the elbow joint can lead to diagnostic uncertainty when a clinician is determining the cause of a patient's anterior elbow pain. We present a case of anterior elbow pain with an uncommon and often overlooked etiology. Elbow pain due to compression of the lateral antebrachial nerve (LACN) has an unknown incidence or prevalence. Case Report: A 27-year-old left-hand dominant male presented to our orthopedic elbow clinic complaining of bilateral elbow clicking and discomfort which had been present for several years...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29240584/dermatofibrosarcoma-protuberans-of-distal-extremities-and-acral-sites-a-clinicopathologic-analysis-of-27-cases
#5
Kabeer K Shah, Jonathan B McHugh, Andrew L Folpe, Rajiv M Patel
Dermatofibrosarcoma protuberans (DFSP) of the distal extremities and acral sites are extremely rare and incompletely characterized. Twenty-seven DFSP occurring in these sites were retrieved from our collective archives and reevaluated. Tumors occurred in 16 males and 11 females. Median age at presentation was 42.5 years (range, 7 to 78 y). Lesions involved the foot (18 with 6 in the toes and 2 on the plantar foot), distal ankle (4), hand (4 with 2 in the thumbs), and wrist (1). All cases showed predominantly classic DFSP morphology and were diffusely CD34 positive...
December 7, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29239076/allogeneic-hematopoietic-stem-cell-transplantation-is-associated-with-cure-and-durable-remission-of-late-onset-primary-isolated-central-nervous-system-hemophagocytic-lymphohistiocytosis
#6
Sajad Khazal, Veronika Polishchuk, Gary Soffer, Samantha Prinzing, Jonathan Gill, Kris M Mahadeo
Primary isolated CNS presentation of HLH is exceedingly rare and typically associated with significant morbidity and mortality. We describe an adolescent patient with late-onset, primary isolated CNS HLH and a compound heterozygous PRF1 mutation (c50delT (p.L17 fs); c.1229G>C (p.R410P)), not previously reported with this phenotype. He was successfully treated with allogeneic HSCT following a reduced-intensity conditioning regimen, despite a high pre-HSCT comorbidity index. Two years after transplant, he is alive and in disease remission...
December 13, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/29238580/endometrioid-adenocarcinoma-arising-from-colon-endometriosis
#7
Viktoria-Varvara Palla, Georgios Karaolanis, Theodora Bliona, Ioannis Katafigiotis, Ioannis Anastasiou, Demetrios Hassiakos
Endometriosis-associated intestinal tumors represent the malignant transformation of gastrointestinal endometriosis. Approximately 50 cases have been reported in the literature. They are most commonly found among women aged 30-60 years, whereas exogenous hormone therapy and obesity are primary risk factors for the malignant transformation of endometriotic lesions. Clinical features simulate a primary colonic carcinoma. A high index of suspicion in conjunction with careful histological and immunohistochemical examination (CK7, CK20, CDX2, CD10, ER, and PR) is important for establishing a correct diagnosis...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29237543/diagnosis-and-management-of-mcfarland-fractures-a-case-report-and-review-of-the-literature
#8
M Birt, B Vopat, P Schroeppel, A Tarakemeh, B Everist, S Mullen
BACKGROUND: McFarland fracture is the eponym for a rare Salter Harris III or IV fracture involving the medial distal tibia. These fractures can be difficult to diagnose without a high index suspicion and appropriate radiographic imaging. These fractures may result in significant growth disturbances to the pediatric patient. When diagnosed and treated acutely, these fractures can be managed with cast immobilization and close follow up. If diagnoses in a delayed fashion they can result in significant morbidity including prolonged casting and possible surgical treatment...
December 9, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29234910/ultrasonography-of-occipital-arteries-to-diagnose-giant-cell-arteritis-a-case-series-and-literature-review
#9
REVIEW
Jonathan Pinnell, Carl Tiivas, Phillip Perkins, Tim Blake, Shanmugam Saravana, Shirish Dubey
We describe four cases of giant cell arteritis (GCA) that presented with occipital headache in the last 6 months. Typical ultrasound features of GCA were found in the occipital arteries which helped to confirm the diagnosis. One patient had already suffered significant visual loss by the time the diagnosis was made, reflecting the similarity in prognosis to the more typical GCA patients. These cases prompted a review of the literature to evaluate the evidence regarding the use of occipital artery ultrasonography in the investigation of GCA...
December 12, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29233628/xanthogranulomatous-pyelonephritis-in-a-paediatric-cohort-1963-2016-outcomes-from-a-large-single-center-series
#10
I Stoica, F O'Kelly, M B McDermott, F M J Quinn
BACKGROUND: Xanthogranulomatous pyelonephritis (XGP) is an uncommon chronic destructive granulomatous inflammation of the kidney. It was first described in 1916, and is thought to affect 6/1000 cases of pyelonephritis. Its manifestations are varied, and with a limited number of cases in the literature, the optimal diagnosis and management of XGP in the paediatric cohort is still unknown. MATERIAL AND METHODS: The medical records of children who were diagnosed and treated for XGP at the current unit during the period 1963-2016, inclusive, were retrospectively reviewed...
November 24, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29233454/does-radiotherapy-prior-to-surgery-improve-long-term-prognosis-in-pediatric-colorectal-cancer-in-lower-and-upper-middle-income-countries-with-limited-resources-our-experience-and-literature-review
#11
Yacoob Omar Carrim, Luvo Gaxa, Francisca van der Schyff, Nndweleni Meshack Bida, Fareed Omar, Zarina Lockhat
Colorectal carcinoma in children and adolescents is extremely rare, with an annual incidence <0.3 cases per million, most frequently reported in the second decade of life. It accounts for severe morbidity and poor prognosis owing to the low index of suspicion, delayed diagnosis, advanced stage at presentation and the aggressive tumor nature. Patients present with abdominal pain, vomiting, constipation, abdominal distension, rectal tenesmus, iron-deficiency anemia, change in bowel habit and weight loss...
December 7, 2017: Journal of the Egyptian National Cancer Institute
https://www.readbyqxmd.com/read/29233365/acute-trans-diaphragmatic-herniation-of-the-caudate-lobe-of-the-liver
#12
Ioannis Loumiotis, Milan M Kinkhabwala, Amit Bhargava
Diaphragmatic liver herniation is often associated with thoracoabdominal trauma. Spontaneous diaphragmatic rupture is a thoracoabdominal emergency and requires a high index of suspicion combined with high-resolution imaging studies for establishing an accurate and timely diagnosis. We present a case report of a patient who was admitted to the emergency department with severe substernal chest pain and shortness of breath who was diagnosed with spontaneous diaphragmatic rupture and caudate liver herniation. The caudate lobe was incarcerated, contributing to the patient's symptoms...
January 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29233171/deep-infiltrating-ureteral-endometriosis-with-catamenial-hydroureteronephrosis-a-case-report
#13
Hyun Jung Lee, Yoon Soon Lee
BACKGROUND: This aim of this case report is to raise awareness of ureteral endometriosis in women of reproductive age with hydronephrosis in the absence of urolithiasis to enable early diagnosis and prevent loss of renal function. CASE PRESENTATION: A 44-year-old Asian woman presented with a 4-year history of cyclic right flank pain and right hydronephrosis during menstruation. Despite several evaluations by physicians, including gynecologists, the cause of her symptoms was not diagnosed...
December 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29229095/primary-immune-deficiency-diseases-as-unrecognized-causes-of-chronic-respiratory-disease
#14
REVIEW
Melvin Berger, Bob Geng, D William Cameron, Ladonna M Murphy, Edward S Schulman
BACKGROUND: More than half of all primary immune deficiency diseases (PIDD) affect antibody production and are well known as causes of recurrent sinusitis and lung infections. Chronic and recurrent infections of the upper and/or lower airways can contribute to inflammatory and obstructive processes in the lower airways which are initially reversible and considered "asthma", but can eventually cause irreversible remodeling and chronic obstructive pulmonary disease (COPD). Conversely, several lines of evidence suggest that many patients who present with a diagnosis of asthma have an increased incidence of infection, suggesting underlying host-defense defects...
November 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29228842/mammary-analogue-secretory-carcinoma-of-the-thyroid-mimicking-locally-advanced-papillary-thyroid-carcinoma-a-rare-case-report
#15
Haihui Liao, Ashraf Khan, Patricia M Miron, Kristine M Cornejo
Mammary analogue secretory carcinoma (MASC) harboring ETV6 gene rearrangements was first described in the salivary gland with a relatively favorable prognosis and a possible molecular therapeutic target with pan-Trk inhibitors. Recently, primary MASC of the thyroid gland has been reported. We report a case of a 4.0 cm MASC arising from the left thyroid of a 58-year-old female with extrathyroidal extension. Initially, it was diagnosed by fine needle aspiration as suspicious for papillary thyroid carcinoma (PTC) and subsequently called a poorly differentiated carcinoma on resection...
December 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29227406/unexpected-blooming-artifact-in-brain-magnetic-resonance-imaging
#16
Akilesh Ramasamy, Balasubramanian Madhan, Balasubramanian Krishnan
Unexpected foreign bodies are occasionally discovered during magnetic resonance imaging (MRI). These are often present unknown to the patient, missed during routine pre-MRI screening and result in unnecessary delay during MRI. The authors present a patient with traumatically embedded foreign body in the scalp that escaped pre-MRI screening and caused susceptibility artifacts during brain MRI. The object was surgically removed to allow the imaging to be completed. Patients with suspicion or history of facial trauma or with dental restorations are referred to concerned specialists for compatibility of hardware, restorations and for assessing risks during MRI due to these...
December 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29226095/atypical-hemolytic-uremic-syndrome-due-to-complement-factor-i-mutation
#17
Abdullah H Almalki, Laila F Sadagah, Mohammed Qureshi, Hatim Maghrabi, Abdulrahman Algain, Ahmed Alsaeed
Atypical hemolytic-uremic syndrome (aHUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy (TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor I (CFI) mutation...
November 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/29225844/hemoglobin-providence-%C3%AE-82-lys-asn-asp-and-lower-than-expected-hba1c-in-a-nonadherent-teenager-with-type-1-diabetes-a-case-report-and-literature-review
#18
Charles N Newman, Christine M Litwin, Deborah A Bowlby, Katherine A Lewis, Remberto C Paulo
Endocrinologists should have a high index of suspicion for a Hb variant when the HbA1c is not consistent with other indices of glycemic control.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29225828/cefepime-induced-neurotoxicity-in-a-pediatric-patient-on-chronic-hemodialysis-a-case-report
#19
Monica Guzman-Limon, Subha Amatya, Joshua Samuels, Rita Swinford, Sonal Bhatnagar, Joyce Samuel
Impaired renal function increases the risk for cefepime-induced neurotoxicity. Symptoms include disorientation, myoclonus, status epilepticus, ataxia, gait disturbance, coma, and death. A high index of suspicion and early recognition of symptoms can minimize the risk of progression of symptoms to permanent neurologic impairment or death.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#20
REVIEW
James B Lilleker, Yann Shern Keh, Federico Roncaroli, Reena Sharma, Mark Roberts
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used...
December 9, 2017: Practical Neurology
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