×
About 57,284 results

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
https://doi.org/10.1056/NEJMoa1307362
The New England Journal of Medicine; Navon Elkan P, Pierce SB et. al.

Feb 20th, 2014 - Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. We carried out exome sequencing in persons from multiply affected families of Georgia...

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 ...

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771855
Nature Ebert BL, Pretz J et. al.

Jan 18th, 2008 - Somatic chromosomal deletions in cancer are thought to indicate the location of tumour suppressor genes, by which a complete loss of gene function occurs through biallelic deletion, point mutation or epigenetic silencing, thus fulfilling Knudson's two-hit hypothesis. In many recurrent deletions, however, such biallelic inactivation has not been found. One prominent example is the 5q- syndrome, ...

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 ...

Reviews of anti-infective agents: posaconazole: a broad-spectrum triazole antifungal ag...
https://doi.org/10.1086/523576
Clinical Infectious Diseases : an Official Publication Of... Nagappan V, Deresinski S

Jan 14th, 2008 - Posaconazole is a triazole antifungal agent with a spectrum of activity that includes Candida and Cryptococcus species, many molds, and some endemic fungi. Posaconazole has received US Food and Drug Administration approval for the treatment of oropharyngeal candidiasis, including infections refractory to itraconazole and/or fluconazole. It is also approved as prophylaxis for invasive Aspergillu...

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...

Endoscopically acquired pancreatic cyst fluid microRNA 21 and 221 are associated with i...
https://doi.org/10.1038/ajg.2013.167
The American Journal of Gastroenterology; Farrell JJ, Toste P et. al.

Jun 11th, 2013 - Pancreatic cysts are a group of lesions with heterogeneous malignant potential. Currently, there are no reliable biomarkers to aid in cyst diagnosis and classification. The objective of this study was to identify potential microRNA (miR) biomarkers in endoscopically acquired pancreatic cyst fluid that could be used to distinguish between benign, premalignant, and malignant cysts. A list of cand...

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...

Early-onset inflammatory bowel disease and common variable immunodeficiency-like diseas...
https://doi.org/10.1016/j.jaci.2014.02.034
The Journal of Allergy and Clinical Immunology; Salzer E, Kansu A et. al.

Apr 21st, 2014 - Alterations of immune homeostasis in the gut can result in development of inflammatory bowel disease (IBD). Recently, Mendelian forms of IBD have been discovered, as exemplified by deficiency of IL-10 or its receptor subunits. In addition, other types of primary immunodeficiency disorders might be associated with intestinal inflammation as one of their leading clinical presentations. We investi...

A recessive form of extreme macrocephaly and mild intellectual disability complements t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820037
European Journal of Human Genetics : EJHG; Schwerd T, Khaled AV et. al.

Oct 7th, 2015 - PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is embryonically lethal. Here, we report the identification of a novel homozygous variant in PTEN, NM_0...

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...

High rates of resolution of cholestasis in parenteral nutrition-associated liver diseas...
https://doi.org/10.1016/j.jpeds.2012.10.019
The Journal of Pediatrics; Premkumar MH, Carter BA et. al.

Nov 20th, 2012 - To determine factors leading to resolution of cholestasis in patients with parenteral nutrition-associated liver disease treated with fish oil-based lipid emulsion (FOLE). Prospective observational study of 57 infants <6 months of age with parenteral nutrition-associated liver disease who received parenteral FOLE as monotherapy. Median gestational age of subjects at birth was 28 weeks (range 22...

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...

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskerat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430361
Proceedings of the National Academy of Sciences of the Un... Vulliamy T, Beswick R et. al.

Jun 4th, 2008 - Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities, including early greying, dental loss, osteoporosis, and malignancy. Dyskeratosis congenita cells age prematurely and have very short telomeres. Patients have mutations in genes that encode components of the telomerase complex (dyskerin, TERC, TERT, and NOP10), import...

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795044
European Journal of Human Genetics : EJHG; Kuechler A, Zink AM et. al.

Aug 20th, 2014 - Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies revealed that a large proportion of sporadic cases are caused by de novo gene variants. To identify further genes involved in ID, we performed WES in 250 patients with unexplained ID and their un...

The growth hormone receptor: mechanism of activation and clinical implications.
https://doi.org/10.1038/nrendo.2010.123
Nature Reviews. Endocrinology; Brooks AJ, Waters MJ

Jul 28th, 2010 - Growth hormone is widely used clinically to promote growth and anabolism and for other purposes. Its actions are mediated via the growth hormone receptor, both directly by tyrosine kinase activation and indirectly by induction of insulin-like growth factor 1 (IGF-1). Insensitivity to growth hormone (Laron syndrome) can result from mutations in the growth hormone receptor and can be treated with...

Aquaporin 4 and neuromyelitis optica.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678971
The Lancet. Neurology; Papadopoulos MC, Verkman AS

May 22nd, 2012 - Neuromyelitis optica is an inflammatory demyelinating disorder of the CNS. The discovery of circulating IgG1 antibodies against the astrocyte water channel protein aquaporin 4 (AQP4) and the evidence that AQP4-IgG is involved in the development of neuromyelitis optica revolutionised our understanding of the disease. However, important unanswered questions remain--for example, we do not know the...

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076
Brain : a Journal of Neurology; Baets J, Duan X et. al.

Feb 13th, 2015 - We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E kinships (45 affected subjects) were investigated. Five novel mutations of DNMT1 were discovered;...

Dystrophin immunity in Duchenne's muscular dystrophy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014106
The New England Journal of Medicine; Mendell JR, Campbell K et. al.

Oct 11th, 2010 - We report on delivery of a functional dystrophin transgene to skeletal muscle in six patients with Duchenne's muscular dystrophy. Dystrophin-specific T cells were detected after treatment, providing evidence of transgene expression even when the functional protein was not visualized in skeletal muscle. Circulating dystrophin-specific T cells were unexpectedly detected in two patients before vec...

Detection of human papilloma virus and p16 expression in high-grade adenoid cystic carc...
https://doi.org/10.1038/modpathol.2011.186
Modern Pathology : an Official Journal of the United Stat... Boland JM, McPhail ED et. al.

Dec 13th, 2011 - Squamous cell carcinoma of the head and neck, particularly basaloid squamous cell carcinoma, may be difficult to distinguish from high-grade adenoid cystic carcinoma. Evidence of human papilloma virus (HPV) infection, particularly HPV 16, is frequently found in non-keratinizing oropharyngeal squamous cell carcinoma. Immunoreactivity for p16, a surrogate marker for HPV infection, often parallels...