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About 49,724 results

Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134948
The New England Journal of Medicine; Wilson MR, Naccache SN et. al.

Jun 4th, 2014 - A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic workup including brain biopsy was unrevealing. Unbiased next-generation sequencing of the cerebrospinal fluid identified 475 of 3,063,784 se...

A test for Creutzfeldt-Jakob disease using nasal brushings.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186748
The New England Journal of Medicine; Orrú CD, Bongianni M et. al.

Aug 7th, 2014 - Definite diagnosis of sporadic Creutzfeldt-Jakob disease in living patients remains a challenge. A test that detects the specific marker for Creutzfeldt-Jakob disease, the prion protein (PrP(CJD)), by means of real-time quaking-induced conversion (RT-QuIC) testing of cerebrospinal fluid has a sensitivity of 80 to 90% for the diagnosis of sporadic Creutzfeldt-Jakob disease. We have assessed the ...

Safety and tolerability of chikungunya virus-like particle vaccine in healthy adults: a...
https://doi.org/10.1016/S0140-6736(14)61185-5
Lancet (London, England); Chang LJ, Dowd KA et. al.

Aug 18th, 2014 - Chikungunya virus--a mosquito-borne alphavirus--is endemic in Africa and south and southeast Asia and has recently emerged in the Caribbean. No drugs or vaccines are available for treatment or prevention. We aimed to assess the safety, tolerability, and immunogenicity of a new candidate vaccine. VRC 311 was a phase 1, dose-escalation, open-label clinical trial of a virus-like particle (VLP) chi...

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191900
The New England Journal of Medicine; Roberts KG, Li Y et. al.

Sep 10th, 2014 - Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is characterized by a gene-expression profile similar to that of BCR-ABL1-positive ALL, alterations of lymphoid transcription factor genes, and a poor outcome. The frequency and spectrum of genetic alterations in Ph-like ALL and its responsiveness to tyrosine kinase inhibition are undefined, especially in adolescents and ad...

Reticular erythematous mucinosis: histopathological and immunohistochemical features of...
https://doi.org/10.1111/jdv.12654
Journal of the European Academy of Dermatology and Venere... Cinotti E, Merlo V et. al.

Aug 4th, 2014 - Reticular erythematous mucinosis (REM) and lupus erythematosus tumidus (LET) share similarities. However, to our knowledge no study extensively compared the histological features of these two conditions. The aim of this study is to compare the histological and immunohistochemical features of REM and LET. We evaluated epidermal thickness, hyperkeratosis, dermo-epidermal junction changes, interst...

Small bowel bacterial overgrowth in adults: a potential contributor to intestinal failure.
https://www.ncbi.nlm.nih.gov/pubmed/18377796
Current Gastroenterology Reports; Ziegler TR, Cole CR

Apr 1st, 2008 - Small bowel bacterial overgrowth (SBBO), in which colon-derived bacteria colonize the upper small bowel, is found in a wide variety of adult diseases associated with intestinal failure and dysfunction, including short bowel syndrome and other conditions following massive bowel resection, dysmotility disorders, and inflammatory bowel disease. SBBO also appears to be relatively common in the elde...

Clinicopathologic Features of Hydroa Vacciniforme-Like Lymphoma: A Series of 9 Patients.
https://doi.org/10.1097/DAD.0000000000000385
The American Journal of Dermatopathology; Magaña M, Massone C et. al.

Sep 14th, 2015 - Hydroa vacciniforme-like lymphoma is a recently recognized cutaneous T-cell lymphoma associated with Epstein-Barr virus. The disease is observed in children of Latin American or Asian ethnicity. The authors report the clinical, histopathological, and immunophenotypical features of 9 new Mexican patients (M:F = 2:1; mean age, 14.5 years; median age, 13.3 years; age range, 4-27 years), expanding ...

Childhood-onset bullous systemic lupus erythematosus.
https://doi.org/10.1177/0961203314544187
Lupus Lourenço DM, Gomes RC et. al.

Jul 30th, 2014 - Bullous systemic lupus erythematosus has rarely been described in pediatric lupus population and the real prevalence of childhood-onset bullous systemic lupus erythematosus has not been reported. From January 1983 to November 2013, 303 childhood-onset SLE (c-SLE) patients were followed at the Pediatric Rheumatology Unit of the Childreńs Institute of Hospital das Clínicas da Faculdade de Medicin...

Analysis of PTEN and HIF-1alpha and correlation with efficacy in patients with advanced...
https://doi.org/10.1002/cncr.24438
Cancer Figlin RA, de Souza P et. al.

Jun 15th, 2009 - Exploratory subgroup analyses from the phase 3 global advanced renal cell carcinoma (ARCC) trial were conducted to determine if baseline levels of the tumor molecular markers PTEN and HIF1 alpha correlated with efficacy in patients treated with temsirolimus (Torisel) versus interferon-alpha (IFN). Patients in the IFN group received 3 million U (MU) subcutaneously 3x weekly, escalating to 18 MU....

Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (...
https://doi.org/10.1002/ppul.21475
Pediatric Pulmonology; Ren CL, Desai H et. al.

May 3rd, 2011 - An unavoidable outcome of cystic fibrosis newborn screening (CF NBS) programs is the detection of infants with an indeterminate diagnosis. The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to describe infants with elevated immunoreactive trypsinogen (IRT) on NBS who do not meet diagnostic criteria for...

Histological diversity in cholangiocellular carcinoma reflects the different cholangioc...
https://doi.org/10.1002/hep.25595
Hepatology (Baltimore, Md.); Komuta M, Govaere O et. al.

Jan 24th, 2012 - Cholangiocellular carcinoma (CC) originates from topographically heterogeneous cholangiocytes. The cylindrical mucin-producing cholangiocytes are located in large bile ducts and the cuboidal non-mucin-producing cholangiocytes are located in ductules containing bipotential hepatic progenitor cells (HPCs). We investigated the clinicopathological and molecular features of 85 resected CCs (14 hilar...

Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508de...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461999
Annals of the American Thoracic Society; Rowe SM, McColley SA et. al.

Nov 29th, 2016 - In a prior study, lumacaftor/ivacaftor treatment (≤28 d) in patients with cystic fibrosis (CF) heterozygous for F508del-CFTR did not improve lung function. To evaluate an optimized lumacaftor/ivacaftor dosing regimen with a longer duration in a cohort of patients heterozygous for F508del-CFTR. Patients aged 18 years or older with a confirmed CF diagnosis and percent predicted FEV1 (ppFEV1) of 4...

Blood glucose and prognosis in children with presumed severe malaria: is there a thresh...
https://doi.org/10.1111/j.1365-3156.2009.02444.x
Tropical Medicine & International Health : TM & IH; Willcox ML, Forster M et. al.

Dec 7th, 2009 - Hypoglycaemia (glucose <2.2 mmol/l) is a defining feature of severe malaria, but the significance of other levels of blood glucose has not previously been studied in children with severe malaria. A prospective study of 437 consecutive children with presumed severe malaria was conducted in Mali. We defined hypoglycaemia as <2.2 mmol/l, low glycaemia as 2.2-4.4 mmol/l and hyperglycaemia as >8.3 m...

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759321
Gastroenterology Senter L, Clendenning M et. al.

Jul 7th, 2008 - Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations...

Clinical features of cytomegalovirus anterior uveitis in immunocompetent patients.
https://doi.org/10.1016/j.ajo.2007.12.015
American Journal of Ophthalmology; Chee SP, Bacsal K et. al.

Feb 7th, 2008 - To describe the clinical presentation of cytomegalovirus (CMV) anterior uveitis in human immunodeficiency virus (HIV)-negative patients. Retrospective, interventional case series. HIV-negative patients with anterior uveitis associated with elevated intraocular pressure (hypertensive anterior uveitis) seen at the Singapore National Eye Centre had their aqueous analyzed for viral deoxyribonucleic...

Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusi...
https://doi.org/10.1097/PAS.0b013e3181d9efcc
The American Journal of Surgical Pathology; Skálová A, Vanecek T et. al.

Apr 22nd, 2010 - We present a series of 16 salivary gland tumors with histomorphologic and immunohistochemical features reminiscent of secretory carcinoma of the breast. This is a hitherto undescribed and distinctive salivary gland neoplasm, with features resembling both salivary acinic cell carcinoma (AciCC) and low-grade cystadenocarcinoma, and displaying strong similarities to breast secretory carcinoma. Mic...

Cholangiolocellular carcinoma: an innocent-looking malignant liver tumor mimicking duct...
https://doi.org/10.1055/s-0031-1272838
Seminars in Liver Disease; Sempoux C, Fan C et. al.

Feb 23rd, 2011 - The authors present an interesting case of a 60-year-old man who underwent right hepatectomy for a diagnosis of hepatocellular carcinoma (HCC) on a background of noncirrhotic chronic hepatitis C. Pathologic examination confirmed the presence of HCC near the porta hepatis, which invaded the right portal vein branch. In addition, a well-demarcated 13.5 × 7.8 × 4.0 cm yellow and firm area upstream...

p40 is more specific than p63 for the distinction of atypical fibroxanthoma from other ...
https://doi.org/10.1097/PAS.0000000000000245
The American Journal of Surgical Pathology; Henderson SA, Torres-Cabala CA et. al.

Jul 16th, 2014 - Poorly differentiated, cytologically malignant, spindle cell neoplasms of the skin may present a diagnostic challenge with important clinical consequences. In particular, the distinction between poorly differentiated cutaneous spindle cell squamous cell carcinoma (SpSCC) and atypical fibroxanthoma (AFX) remains controversial, but with important clinical implications: SpSCC exhibits an increased...

Impact of immunosuppressive medication on the risk of renal allograft failure due to re...
https://www.ncbi.nlm.nih.gov/pubmed/19353768
American Journal of Transplantation : Official Journal Of... Mulay AV, van Walraven C et. al.

Apr 8th, 2009 - Recurrent glomerulonephritis is a major problem in kidney transplantation but the role of immunosuppression in preventing this complication is not known. We used data from the United States Renal Data System to examine the effect of immunosuppressive medication on allograft failure due to recurrent glomerulonephritis for 41,272 patients undergoing kidney transplantation from 1990 to 2003. Ten-y...

Relation between falciparum malaria and bacteraemia in Kenyan children: a population-ba...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192903
Lancet (London, England); Scott JA, Berkley JA et. al.

Sep 9th, 2011 - Many investigators have suggested that malaria infection predisposes individuals to bacteraemia. We tested this hypothesis with mendelian randomisation studies of children with the malaria-protective phenotype of sickle-cell trait (HbAS). This study was done in a defined area around Kilifi District Hospital, Kilifi, Kenya. We did a matched case-control study to identify risk factors for invasiv...