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Calhoun Amy R U L AR Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, - - 2014
The contiguous ABCD1/DXS1375E (BCAP31) deletion syndrome (CADDS) is a rare X-linked contiguous gene deletion syndrome with a severe clinical phenotype that includes marked delays, significant growth failure, liver dysfunction, and early death. The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, ...
O'Shaughnessy Julie J Full time professor, Département de chiropratique, Université du Québec à Trois-Rivières (UQTR), Trois-Rivières, Québec, - - 2014
To review the case of a patient suffering from bilateral facet dislocation of the cervical spine. A 53-year-old male was involved in a car accident and was transported to the hospital. Cervical radiographs were taken at the emergency department and interpreted as normal. Four days later, he consulted a chiropractor ...
Genereaux Brad W BW Agfa HealthCare, 375 Hagey Boulevard, Waterloo, ON, N2L 6R5, Canada, - - 2014
Structured reporting, created when a standardized template with organized subheadings is combined with relevant observations of a diagnostic study into a meaningful result, has the potential to raise both the quality and the predictability of the radiologist report, revolutionizing the workflow and its outcomes. These templates contain great value, as ...
Rapoport Mark J MJ Department of Psychiatry, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada. Electronic address: - - 2013
To establish consensus among dementia experts about which patients with mild cognitive impairment (MCI) or mild dementia should be reported to transportation authorities. We conducted a literature review of predictors of driving safety in patients with dementia and combined these into 26 case scenarios. Using a modified Delphi technique, case ...
Bunch Andy - - 2013
Because of the physiological stresses of commercial air travel, the presence of a pneumothorax has long been felt to be an absolute contraindication to flight. Additionally, most medical societies recommend that patients wait at least 2 weeks after radiographic resolution of the pneumothorax before they attempt to travel in a ...
Balak Naci - - 2013
Purpose. The Sylvian (or lateral) fissure is an important structure that has both pathophysiological and microneurosurgical significance. The aims of this review were to revisit the anatomy of the Sylvian fissure and cistern and its overlying arachnoid membrane, and to review its role in the treatment of various surgical pathological ...
Jain-Ghai Shailly - - 2013
Complex II deficiency is a rare cause of mitochondrial respiratory chain defects with a prevalence of 2-23%. It is exclusively nuclear encoded and functions in the citric acid cycle by oxidizing succinate to fumarate and in the mitochondrial electron transport chain (ETC) by transferring electrons to ubiquinone. Of the four ...
Johnsen Anne Siri AS Department of Research and Development, Norwegian Air Ambulance Foundation, Drøbak, - - 2013
Helicopter emergency medical services (HEMS) aim to bring highly specialised crews to the major incident for triage, treatment and transport. When the site is difficult to access, HEMS may be the only mode of transportation of both personnel and patients. This systematic review will identify, describe and appraise literature regarding ...
Ceccaroni Marcello - - 2012
Diaphragmatic endometriosis is a rare entity, often asymptomatic, which has been described only in small series. It is almost always associated with severe pelvic involvement. The most plausible theory about this condition is based on retrograde menstruation and subsequent transportation of viable cells in peritoneal fluid from the pelvis up ...
Starnes Autumn M - - 2012
Leukemia Cutis (LC) has many clinical morphologies that present a diagnostic challenge. This case report of a 58-year-old man experiencing a flare of psoriasis elucidates the need for clinical suspicion when a history of leukemia is present. A skin biopsy revealed histopathologic findings of psoriasis and an infiltrate of mononuclear ...
Mevio Emilio - - 2012
Hemangiomas of the external auditory canal, involving the posterior bony canal and the adjacent tympanic membrane, although rare, are considered a specific disease entity of the human external auditory canal. Hemangiomas of the tympanic membrane and/or external auditory canal are rare entities; there are 16 previous case reports in the ...
Rawlinson Neil J - - 2011
Burkitt's leukemia (BL) constitutes a small but important fraction of acute leukemias in children. It is an aggressive type of leukemia that is responsive to high-intensity, short-duration chemotherapy with complete remission possible in 75% to 90% of cases. The recognition and proper designation of BL is important because treatment differs ...
Steensma David P - - 2011
Historically, acute leukemias that do not fit neatly into the broad categories of "acute myeloid leukemia" or "acute lymphoblastic leukemia" have caused considerable confusion and frustration for clinicians and pathologists. These misfit cases include bilineage and biphenotypic leukemias (collectively termed "mixed phenotype acute leukemias" in the 2008 World Health Organization ...
Cho Jin-Hee - - 2011
Therapy-related acute leukemia showing mixed phenotype is extremely rare. We report a 49-year-old woman who presented with palpable masses in her neck and back. She had received systemic chemotherapy (adriamycin and cisplatin) and radiotherapy for endometrial adenocarcinoma 7 years before. Her peripheral blood and bone marrow showed increased blasts, which ...
Shah Nirmish R - - 2011
Bone marrow necrosis is a rare histopathology finding with the majority of cases occurring in the setting of a hematologic malignancy. This article reports a case of diffuse marrow necrosis in a child secondary to acute lymphoblastic leukemia and summarizes the clinical features and outcomes for children with bone marrow ...
Cash Thomas - - 2011
Myeloid sarcomas are rare extramedullary tumors composed of immature myeloid cells. Most cases are seen in childhood acute myelogenous leukemia (AML). They can develop at many sites, but cardiac involvement is a rare finding. We report the case of a 24-year-old woman who, after being in remission from AML for ...
Argiropoulos Bob - - 2011
We report a unique pediatric case of hypergranular acute myeloid leukemia with myelodysplasia-related changes. The patient presented with moderate leukocytosis with neutrophilia with left-shift maturation and dysplasia, anemia, and multiple sclerotic bone lesions. The bone marrow was hypercellular with a predominance of myeloblast cells and/or abnormal promyelocytes with hypergranular cytoplasm. ...
Edouard S - - 2011
We report a case of bilateral choroidopathy in a 35-year-old woman with systemic lupus erythematosus (SLE) diagnosed 3 years previously, and treated with hydroxychloroquine and steroids that ceased 6 months before ocular signs. She complained about rapid bilateral blurred vision with a severe loss of visual acuity. Fluorescein angiography found ...
Y K Inchara - - 2011
OBJECTIVES:: Diagnosis of scarring alopecias (SAs) are challenging, especially when lesions late in the process of development are met with. There is a paucity of literature that profiles the role of histopathology in unscrambling this puzzle, especially in Indian patients. Our aim is to review the histological features of SA ...
Ichikawa Hiroo - - 2011
Although Charcot described amyotrophic lateral sclerosis (ALS) in the 1870s, he did not focus on language. And language problems in ALS with or without dementia were long ignored. A recent report by Caselli et al. [Ann Neurol 1993;33:200-207] is accurately regarded as a major breakthrough in studies of language in ...
Jaso Jesse - - 2011
Web-based synoptic reporting systems have been shown to improve efficiency, reduce turnaround time, and decrease reporting errors in reports of surgical pathology specimens and hematologic neoplasms and bone marrow. No such system has been previously described for the reporting of peripheral blood smears. We developed a Web-based synoptic reporting system ...
Pottier V - - 2011
Diffuse alveolar haemorrhage (DAH) is a rare but life-threatening complication of systemic lupus erythematosus (SLE). Specific therapy is based on a heavy immunosuppressive treatment that usually associates corticosteroid and cyclophosphamide boluses and plasma exchange. Despite this treatment, an early mortality rate of 20-50% is reported in the literature. Immunosuppression-related complications ...
Pineles Stacy L - - 2011
The histiocytic disorders Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD), can both present with multisystem involvement, with the central nervous system and the bone, skin, neuroendocrine, cardiac, respiratory, and gastrointestinal systems potentially affected. The 2 entities occasionally can be difficult to distinguish. Both rarely affect the orbit and the ...
Saeed Fahd - - 2011
Scleroderma renal crisis (SRC) is a rarebut severe complication of systemic sclerosis. SRC usually occurs in the presence of high blood pressure but may be seen in patients with normal blood pressure. Normotensive SRC cases have a poorer prognosis and failure to recognize this condition can result in a fatal ...
Del Porto F - - 2011
Hypercalcaemia is found in more than 90% of the cases of primitive hyperparathyroidism and malignancies. Rarely, D hypervitaminosis, sarcoidosis, other granulomatous diseases, some drugs, and endocrine diseases may be responsible. Nine patients with systemic lupus erythematosus (SLE) and hypercalcaemia, without evidence of primary hyperparathyroidism, have been previously described. Here we ...
- - 2011
Those with an Angle Class III malocclusion have a reduced masticatory efficiency.
Greco M - - 2011
Hypomethylating drugs are useful in the management of Myelodysplastic syndromes, but there are only few reports on chronic myelomonocycitic (CMML) leukemia patients. We describe our experience in 3 CMML patients treated with azacitidine. Two patients obtained partial response after 4 treatment cycles with only minor toxicity and are in continuous ...
Delporte F - - 2011
Primary granulocytic sarcoma is an uncommon entity that rarely presents in the breast. It is frequently misdiagnosed as carcinoma or lymphoma and a broad panel of immunohistochemical markers including epithelial and haematological markers are essential for an accurate diagnosis. We reviewed all the cases of granulocytic sarcoma reported in the ...
Ashrafi Reza - - 2011
Background. We present the case of a 35-year-old gentleman who presented with an aggressive cardiomyopathy with normal coronary arteries. He was later diagnosed with systemic lupus-related cardiomyopathy. Methods. We undertook an extensive review of the literature regarding cardiac manifestations of lupus and used over 100 journals to identify the key ...
Wark Peter - - 2011
Acute bronchitis affects over 40/1000 adults a year in the UK. The causes are usually considered to be infective, but only around half of people have identifiable pathogens. The role of smoking or of environmental tobacco smoke inhalation in predisposing to acute bronchitis is unclear. One third of people may ...
Wong Michelle - - 2011
Dermatologic manifestations from therapy with imatinib are well known and frequently include hypopigmentation, and less commonly, hyperpigmentation. There have been few reports of oral hyperpigmentation. We present a case of palatal melanosis related to imatinib therapy for chronic myelogenous leukemia. This case is reported to add to the sparse literature ...
Liakopoulos V - - 2011
Most episodes of peritoneal dialysis (PD)-related peritonitis could be attributed to a single organism, but in almost 10% of peritonitis episodes multiple organisms are identified. Polymicrobial peritonitis is often related to intra-abdominal pathology, and the prognosis may be poor. Aeromonas spp. have rarely been identified as the causative pathogen in ...
Matsumura Masami - - 2011
Cryptococcal meningitis is a recognized complication of systemic lupus erythematosus (SLE), with high mortality rates, particularly in those treated with immunosuppressive agents. We describe a patient diagnosed simultaneously with cryptococcal meningoencephalitis and SLE and reviewed four similar cases reported in the literature. In our case, profound low CD4 lymphocyte count ...
Hashavya Saar - - 2011
Edwardsiella tarda, a gram-negative bacterium, is a rare pathogen in the neonatal period. We present a term newborn that developed E. tarda septicemia following maternal amnionitis. The severe neurological outcome in this case, as well as in all other reported cases, highlights the need for meticulous neurological evaluation in neonates ...
Eyre D W - - 2010
A case is described of a 79-year-old man, trampled by his horses, who subsequently developed a wound infection and, later, meningitis. Streptococcus equi subsp. zooepidemicus was isolated as the causative organism. S. equi subsp. zooepidemicus, which carries the Lancefield Group C antigen, is an uncommon human pathogen but is commonly ...
Prasad Kameshwar - - 2010
Background: The duration of anti-tuberculous therapy in tuberculous meningitis is controversial. There is variation in recommendations by different societies and expert groups on this issue. Objective: To determine the strength of evidence for short-term therapy in tuberculous meningitis through review of literature and critical appraisal. Materials and Methods: Cochrane CENTRAL ...
Williams O Martin - - 2010
Three cases of Clostridium aldenense bacteremia are reported. C. aldenense is also associated with intra-abdominal infections and closely resembles Clostridium clostridioforme and therefore may be misidentified. C. aldenense may be a more frequent pathogen than appreciated and is generally fluoroquinolone resistant.
Rajasekhar Anita - - 2010
Group C streptococci (GCS) are common causes of veterinary diseases and may colonize humans. Human diseases due to GCS are uncommon and generally occur in the elderly and persons exposed to animals or animal products. We report a case of Streptococcus equi subsp. zooepidemicus meningitis in a horse trainer and ...
Ko Andrew L - - 2010
Anatomical variants of the basiocciput are uncommon and usually clinically benign. While the majority remain undetected, these anomalies rarely manifest as CSF rhinorrhea or recurrent meningitis associated with meningocele. Compromise of the leptomeninges provides an avenue of ingress for pathological organisms and can lead to recurrent meningitis, necessitating operative repair ...
Ozdemir Osman - - 2010
In this study, we report the case of a 2.5-day-old neonate with septicemia and meningitis due to Plesiomonas shigelloides. Culture of the cerebrospinal fluid showed Gram-negative rods, although the glucose, protein and leukocyte counts were normal. The patient was treated with meropenem and survived without any sequelae, although we were ...
Santos Cláudia - - 2010
The histologic pattern of Acute Fibrinous and Organizing Pneumonia (AFOP), described by Beasley in 2002, is characterized by the existence of intra alveolar fibrin in the form of fibrin "balls" and diffuse organizing pneumonia. Presenting symptoms of this interstitial pulmonary disease can be acute or subacute. However, it differs from ...
Minces L R - - 2011
SUMMARYStreptococcus equi subsp. zooepidemicus rarely causes meningitis in humans by contact with domestic animals or their unpasteurized products. In this paper we reviewed the literature pertaining to the epidemiological and clinical aspects relating to this infection on previously reported cases of human disease. Additionally, the case of a 51-year-old female ...
Budenz Cameron L - - 2010
OBJECTIVES: Actinomycosis is a rare disease with a typically indolent course in the head and neck. During the modern era, only 12 cases within the ear and temporal bone and 75 intracranial cases have been reported. We present a case of actinomycosis of the petrous apex that led to meningitis ...
Tzilas V - - 2010
The "reversed halo" sign (RHS) is a distinct radiological sign representing a focal rounded area of ground-glass opacity surrounded by a more or less complete ring of consolidation. Initially, it was reported in two cases of cryptogenic organizing pneumonia and was considered to be relatively specific of the disease. Since ...
Romeo Emilie - - 2010
Primary meningeal osteosarcomas are exceedingly rare. We report a case of a 51-year-old man with a chondroblastic osteosarcoma treated with pre-operative embolization, surgical removal, followed by adjuvant chemotherapy and radiation therapy. Patient is alive without any recurrence 43 months after diagnosis.
Ondrejka Sarah L - - 2010
Infection with the saprophagous nematode Halicephalobus species is uncommon but has been reported in horses worldwide. Only 3 human cases have been previously described, all of which have been fatal. We report a fourth fatal case, which occurred in a 39-year-old woman who presented with meningeal signs, altered mental status, ...
Tan J H - - 2010
Deafness is a common and often permanent neurological sequel of Streptococcus (S.) suis meningitis. Suppurative labyrinthitis, rather than direct auditory nerve infection, has been found to be the site responsible for deafness. Neuroimaging is important to localise the site involved in hearing loss and to assess the feasibility of a ...
Betancourt Sonia L - - 2010
Lipoid pneumonia results from accumulation of lipids in the alveoli and can be either exogenous or endogenous in cause based on the source of the lipid. Exogenous lipoid pneumonia is caused by inhalation or aspiration of animal fat or vegetable or mineral oil. Endogenous lipoid pneumonia is usually associated with ...
Cascio Antonio - - 2010
Post-neurosurgical nosocomial meningitis has become an important subgroup of bacterial meningitis in the hospital setting. The increase in meningitis caused by multidrug-resistant (MDR) Acinetobacter baumannii has resulted in a significant reduction in available treatment options. We report the case of a 36-year-old man with a complex craniofacial trauma, who developed ...
Dash N - - 2009
We reviewed the epidemiologic features and trends for 771 cases of meningitis in Oman from January 2000 to December 2005. We found 69% were bacterial in origin and 13% were viral. Leading bacterial pathogens included Haemophilus influenzae (15%), Streptococcus pneumoniae (14%) and Nesseria meningitidis (12%). For 56% of patients with ...
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