×
About 158,314 results

A critical appraisal of neuroimaging studies of bipolar disorder: toward a new conceptu...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119497
The American Journal of Psychiatry; Phillips ML, Swartz HA

Mar 14th, 2014 - In this critical review, the authors appraise neuroimaging findings in bipolar disorder in emotion-processing, emotion-regulation, and reward-processing neural circuitry in order to synthesize the current knowledge of the neural underpinnings of bipolar disorder and provide a neuroimaging research road map for future studies. The authors examined findings from all major studies in bipolar disor...

The neuropsychiatry of tinnitus: a circuit-based approach to the causes and treatments ...
https://doi.org/10.1136/jnnp-2013-307339
Journal of Neurology, Neurosurgery, and Psychiatry; Minen MT, Camprodon J et. al.

Apr 19th, 2014 - Patients presenting with tinnitus commonly have neuropsychiatric symptoms with which physicians need to be familiar. We provide an overview of tinnitus, including its types and pathophysiology. We discuss how recent methods such as transcranial magnetic stimulation, positron emission tomography, MRI, magnetoencephalography and quantitative EEG improve our understanding of the pathophysiology of...

Nonselective β blockers increase risk for hepatorenal syndrome and death in patients wi...
https://doi.org/10.1053/j.gastro.2014.03.005
Gastroenterology Mandorfer M, Bota S et. al.

Mar 18th, 2014 - Nonselective β blockers (NSBBs) reduce portal pressure and the risk for variceal hemorrhage in patients with cirrhosis. However, development of spontaneous bacterial peritonitis (SBP) in these patients could preclude treatment with NSBBs because of their effects on the circulatory reserve. We investigated the effects of NSBBs in patients with cirrhosis and ascites with and without SBP. We perfo...

Review article: the management of portal hypertensive gastropathy and gastric antral va...
https://doi.org/10.1111/apt.12824
Alimentary Pharmacology & Therapeutics; Patwardhan VR, Cardenas A

Jun 3rd, 2014 - Portal hypertensive gastropathy (PHG) and gastric antral vascular ectasia (GAVE) are important causes of both acute and chronic gastrointestinal bleeding in patients with cirrhosis. To review the current management of PHG and GAVE. PubMed was searched for English language articles using the key words 'GAVE', 'gastric antral vascular ectasia', 'cirrhosis', 'gastrointestinal bleeding', 'acute', '...

Causes of pulmonary hypertension in the elderly.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077408
Chest Pugh ME, Sivarajan L et. al.

Jan 31st, 2014 - Pulmonary hypertension (PH) is common in elderly patients, but a detailed analysis of the causes of PH in the elderly has not been performed. We hypothesized that pulmonary arterial hypertension (PAH) is rare in elderly patients and sought to describe the characteristics of these patients at a large referral center. Clinical and hemodynamic data were collected on consecutive patients ≥ 65 years...

Renal Functional Outcomes after Surgery, Ablation, and Active Surveillance of Localized...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498358
Clinical Journal of the American Society of Nephrology : ... Patel HD, Pierorazio PM et. al.

May 9th, 2017 - Management strategies for localized renal masses suspicious for renal cell carcinoma include radical nephrectomy, partial nephrectomy, thermal ablation, and active surveillance. Given favorable survival outcomes across strategies, renal preservation is often of paramount concern. To inform clinical decision making, we performed a systematic review and meta-analysis of studies comparing renal fu...

Risk factors for pulmonary artery hypertension in preterm infants with moderate or seve...
https://doi.org/10.1159/000327891
Neonatology Kim DH, Kim HS et. al.

Jul 27th, 2011 - Despite the potential importance of pulmonary artery hypertension (PAH) in preterm infants with bronchopulmonary dysplasia (BPD), little is known about the risk factors for PAH. To investigate the risk factors for PAH in preterm infants with BPD. Infants diagnosed with BPD were assigned to the PAH group or non-PAH group except for infants with mild BPD who had no PAH. PAH was diagnosed on the b...

Beneficial effects of growth hormone treatment on cognition in children with Prader-Wil...
https://doi.org/10.1210/jc.2012-1182
The Journal of Clinical Endocrinology and Metabolism; Siemensma EP, Tummers-de Lind van Wijngaarden RF et. al.

Apr 17th, 2012 - Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment. Cognitive functioning was measured biennially by short forms of the WPPSI-R or WISC-R, depending on ag...

Adrenocortical carcinoma and pregnancy: clinical and biological features and prognosis.
https://doi.org/10.1530/EJE-10-0412
European Journal of Endocrinology; Abiven-Lepage G, Coste J et. al.

Aug 11th, 2010 - Adrenocortical carcinoma (ACC) is a rare, severe disease. Pregnancy-associated ACC has rarely been reported. We wished to evaluate the characteristics and prognosis of ACC diagnosed in patients during pregnancy or in the postpartum period, comparing them with those for ACC diagnosed in nonpregnant women. Clinical presentation, hormonal secretion, staging, survival, and obstetric data are report...

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, ...

Tailored approach to the treatment of vernal keratoconjunctivitis.
https://doi.org/10.1016/j.ophtha.2009.11.043
Ophthalmology Sacchetti M, Lambiase A et. al.

Apr 12th, 2010 - To develop a standardized clinical grading system for the management of patients with vernal keratoconjunctivitis (VKC) and to identify the risk factors associated with a worsened outcome of the disease, including decrease of visual acuity and ocular complications development. Retrospective cohort study. A total of 207 consecutive patients with VKC, referred to our Cornea and External Diseases ...

The natural history of multiple system atrophy: a prospective European cohort study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581815
The Lancet. Neurology; Wenning GK, Geser F et. al.

Feb 8th, 2013 - Multiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that is characterised by autonomic failure, cerebellar ataxia, and parkinsonism in various combinations. Here we present the final analysis of a prospective multicentre study by the European MSA Study Group to investigate the natural history of MSA. Patients with a clinical diagnosis of MSA were ...

Utility of oral nicardipine and magnesium sulfate infusion during preparation and resec...
https://doi.org/10.1016/j.surg.2012.08.023
Surgery Siddiqi HK, Yang HY et. al.

Nov 19th, 2012 - Calcium channel blockade with nicardipine (NC) is an alternative to phenoxybenzamine (PB) preparation for resection of a pheochromocytoma. Intraoperative magnesium sulfate infusion (+MgSO(4)) is often used for its cardiovascular stabilizing properties. We hypothesized that preparation with NC would be similar clinically to PB for resection of a pheochromocytoma, and MgSO(4) infusion would not a...

Renal function in hepatosplenic schistosomiasis--an assessment of renal tubular disorders.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274079
PloS One; Duarte DB, Vanderlei LA et. al.

Dec 22nd, 2014 - Renal involvement in Schistosoma mansoni infection is not well studied. The aim of this study is to investigate the occurrence of renal abnormalities in patients with hepatosplenic schistosomiasis (HSS), especially renal tubular disorders. This is a cross-sectional study with 20 consecutive patients with HSS followed in a medical center in Maceió, Alagoas, Brazil. Urinary acidification and conc...

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseud...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375026
Gastroenterology Bonora E, Bianco F et. al.

Jan 12th, 2015 - Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants associated with CIPO to increase our understanding of its pathogenesis and to identify potential biomarkers. We performed whole-exome sequencing of genomic DNA from patients with familial CIPO s...

Repression of osteocyte Wnt/β-catenin signaling is an early event in the progression of...
https://doi.org/10.1002/jbmr.1630
Journal of Bone and Mineral Research : the Official Journ... Sabbagh Y, Graciolli FG et. al.

Apr 11th, 2012 - Chronic kidney disease-mineral bone disorder (CKD-MBD) is defined by abnormalities in mineral and hormone metabolism, bone histomorphometric changes, and/or the presence of soft-tissue calcification. Emerging evidence suggests that features of CKD-MBD may occur early in disease progression and are associated with changes in osteocyte function. To identify early changes in bone, we utilized the ...

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability wi...
https://doi.org/10.1111/j.1399-0004.2010.01590.x
Clinical Genetics; Filges I, Röthlisberger B et. al.

Nov 25th, 2010 - Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Alth...

Cystic fibrosis pulmonary guidelines: airway clearance therapies.
https://www.ncbi.nlm.nih.gov/pubmed/19327189
Respiratory Care; Flume PA, Robinson KA et. al.

Mar 30th, 2009 - Cystic fibrosis (CF) is a genetic disease characterized by dehydration of airway surface liquid and impaired mucociliary clearance. As a result, there is difficulty clearing pathogens from the lung, and patients experience chronic pulmonary infections and inflammation. Clearance of airway secretions has been a primary therapy for those with CF, and a variety of airway clearance therapies (ACTs)...

Finding the fertile woman with phenylketonuria.
https://doi.org/10.1016/j.ejogrb.2007.12.011
European Journal of Obstetrics, Gynecology, and Reproduct... Hanley WB

Feb 11th, 2008 - This review highlights two groups of women with phenylketonuria (PKU) who are at risk of producing offspring with maternal phenylketonuria (MPKU) embryopathy: (I) those not yet diagnosed; (II) those lost to follow-up. The world literature is reviewed, including that published from the International MPKU Collaborative Study (MPKUCS) and evidence is presented to support our hypothesis that at lea...

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dy...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272966
Neurology Richard P, Trollet C et. al.

Dec 24th, 2016 - Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. We hypothesized a potential correlation between the size of the (GCN)n expansion and the severity of the phe...