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Cryptococcal meningitis in apparently immunocompetent patients: association with idiopathic CD4+ lymphopenia.
(2018-04)
We present two cases of cryptococcal meningitis in people subsequently diagnosed with idiopathic CD4+ lymphopenia. Both presented with new onset headaches without sinister features and were sent home on multiple occasions ...
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
(2014-09)
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ...
What cervical screening is appropriate for women who have been vaccinated against high risk HPV? A simulation study.
(2018-02-15)
Women vaccinated against HPV16/18 are approaching the age for cervical screening; however, an updated screening algorithm has not been agreed. We use a microsimulation model calibrated to real published data to determine ...
Astroglial Plasticity Is Implicated in Hippocampal Remodelling in Adult Rats Exposed to Antenatal Dexamethasone.
(2015)
The long-term effects of antenatal dexamethasone treatment on brain remodelling in 3-month-old male Sprague Dawley rats whose mothers had been treated with dexamethasone were investigated in the present study. Dorsal ...
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.
(2018-09)
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism ...
Over expression of HIF1α is associated with inactivation of both LimD1 and VHL in renal cell carcinoma: Clinical importance.
(2017-12)
It is evident that the association of LimD1 and VHL could regulate stabilization of HIF1α protein. In this study, the expression of LimD1, VHL and HIF1α was analyzed in primary renal cell carcinoma (RCC) samples to understand ...
Impact of a decision aid about stratified ovarian cancer risk-management on women's knowledge and intentions: a randomised online experimental survey study.
(2017-11-16)
BACKGROUND: Risk stratification using genetic and other types of personal information could improve current best available approaches to ovarian cancer risk reduction, improving identification of women at increased risk ...
Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.
(2017-11-13)
Bladder cancer incurs a higher lifetime treatment cost than other cancers due to frequent recurrence of non-invasive disease. Improved prognostic biomarkers and localized therapy are needed for this large patient group. ...
Modelling population-level impact to inform target product profiles for childhood malaria vaccines.
(2018-07-13)
BACKGROUND: The RTS,S/AS01 vaccine for Plasmodium falciparum malaria demonstrated moderate efficacy in 5-17-month-old children in phase 3 trials, and from 2018, the vaccine will be evaluated through a large-scale pilot ...
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
(2018-05-29)
Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth impaired. Autosomal-recessive mutations in ...
