|
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Sleep disturbances and behavioral problems occur early in MPS II and III with features of externalizing disorders.
|
30442188 |
2018 |
|
Autism Spectrum Disorders
|
0.010 |
Biomarker
|
disease |
BEFREE |
Although this review provides evidence for IDS preference as, indeed, a potential early marker of ASD, the explanation for differences in IDS processing among children with ASD versus other children remains unclear, as are the implications of these impairments for later social-communicative development.
|
28727482 |
2018 |
|
HYPERPARATHYROIDISM, NEONATAL SEVERE
|
0.010 |
Biomarker
|
disease |
BEFREE |
This case of NSHPT suggests that a near-miss event, labelled as a possible case of SIDS, could also be due to severe hypercalcemia and evidentiates the difficulties of the neonatal management of NSHPT.
|
30376845 |
2018 |
|
Placental Steroid Sulfatase Deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis.
|
29397290 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
Biomarker
|
disease |
BEFREE |
Conclusions We confirm previous findings concerning the non-superiority of NACT + IDS compared to PDS for the treatment of EOC, even if NACT + IDS treatment was associated with significant lower rate of post-operative complications.
|
30210049 |
2018 |
|
Fatigue
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The results indicated that both MPS-1 and MPS-2 presented dose-dependently positive effects on the fatigue related parameters.
|
27840217 |
2017 |
|
Heart valve disease
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In this work, we show that loss of Iduronate-2-sulfatase (IDS) activity, affecting GAGs catabolism and responsible for a life-threatening valvulopathy in mucopolysaccharidosis type II (MPSII), triggers early Sonic Hedgehog (Shh) and Wnt/β-catenin signaling defects, leading to aberrant heart development and atrioventricular valve formation in a zebrafish model.
|
28334757 |
2017 |
|
Anhedonia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In both sexes and both protocols (IDS and DPT), we observed a significant reduction in cortisol levels in the last phase of social isolation, concomitant with increases in autogrooming, stereotyped and anxiety behaviors, and the presence of anhedonia.
|
28983260 |
2017 |
|
Neurocognitive deficit
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Additionally, sustained IDS expression in the central nervous system (CNS) had a prominent effect in preventing neurocognitive deficit in MPS II mice treated at 2 months of age.
|
28478695 |
2017 |
|
CNS disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
Intravenous enzyme replacement therapy can improve somatic manifestations of MPS II, but systemic IDS does not cross the blood-brain barrier and therefore cannot address CNS disease.
|
27510804 |
2016 |
|
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Extensive IDS gene deletions were identified in four patients; using DNA microarray analysis two patients showed the loss of the entire AFF2 gene, and epilepsy developed in only one of them.
|
26762690 |
2016 |
|
Pancytopenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Notably, somatic and germline mosaicism was identified in one family, and two patients presented thrombocytopenic purpura and pancytopenia after idursulfase enzyme replacement treatment.
|
26762690 |
2016 |
|
Sudden unexplained death in epilepsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding β subunits are linked to a number of diseases, including epilepsy, sudden death syndromes like SUDEP and SIDS, and cardiac arrhythmia.
|
25668026 |
2015 |
|
Adverse Event Associated with Cardiac Arrhythmia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Mutations in the genes encoding β subunits are linked to a number of diseases, including epilepsy, sudden death syndromes like SUDEP and SIDS, and cardiac arrhythmia.
|
25668026 |
2015 |
|
Ventricular arrhythmia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Fatal ventricular arrhythmias in the early period of life have been associated with cardiac channelopathies for decades, and postmortem analyses in SIDS victims have provided evidence of this association.
|
24112685 |
2014 |
|
Humoral immune defect
|
0.010 |
GeneticVariation
|
group |
BEFREE |
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.
|
25038527 |
2014 |
|
Mucolipidoses
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
MPS and ML are transmitted in an autosomal recessive manner, except for the X-linked MPS II (Hunter syndrome).
|
23622395 |
2013 |
|
Global developmental delay
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical, molecular and biochemical evaluations of a four year-old female patient with global developmental delay and a hemizygous deletion of Xq27.3q28 (144,270,614-154,845,961 bp), a 10.6 Mb region that contains >100 genes including IDS and FMR1.
|
23634718 |
2013 |
|
Cerebrovascular accident
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Altered sex specific X-chromosome gene expression occurred in 2 genes known to be associated with human stroke, including galactosidase A and IDS, mutations of which result in Fabry disease and Hunter syndrome, respectively.
|
22052522 |
2012 |
|
Neurologic Symptoms
|
0.010 |
Biomarker
|
group |
BEFREE |
The observed patterns of enzyme transport from cerebrospinal fluid to the CNS tissues and the resultant biological activity (a) warrant further investigation of intrathecal delivery of I2S via lumbar catheter as an experimental treatment for the neurological symptoms of Hunter syndrome and (b) may have broader implications for CNS treatment with biopharmaceuticals.
|
22279584 |
2012 |
|
Albinism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we report the first ever derivation of a Hunter's syndrome (46, XX) human stem cell line from embryos (HESC) carrying the IDS and oculocutaneus albinism type 2 mutations.
|
21706504 |
2011 |
|
Fasting Hypoglycemia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In this study, the frequency of fasting hypoglycemia in patients with MPS II was investigated and changes in accumulation of glycogen and GAG in the hepatocytes of IdS-knockout (KO) mice were evaluated before and after recombinant IdS enzyme replacement therapy (ERT).
|
21319344 |
2011 |
|
Paramyotonia Congenita (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that a paroxysmal extreme pain disorder (PEPD) mutation in the human peripheral neuronal sodium channel Nav1.7, a paramyotonia congenita (PMC) mutation in the human skeletal muscle sodium channel Nav1.4, and a long-QT3/SIDS mutation in the human cardiac sodium channel Nav1.5 all substantially increased the amplitude of resurgent sodium currents in an optimized adult rat-derived dorsal root ganglion neuronal expression system.
|
20038812 |
2010 |
|
PAROXYSMAL EXTREME PAIN DISORDER
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that a paroxysmal extreme pain disorder (PEPD) mutation in the human peripheral neuronal sodium channel Nav1.7, a paramyotonia congenita (PMC) mutation in the human skeletal muscle sodium channel Nav1.4, and a long-QT3/SIDS mutation in the human cardiac sodium channel Nav1.5 all substantially increased the amplitude of resurgent sodium currents in an optimized adult rat-derived dorsal root ganglion neuronal expression system.
|
20038812 |
2010 |
|
Myocarditis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We retrospectively compared the demographic profiles, myocardial inflammation, cardiomyocyte necrosis, and myocardial virus detection in infants who died of SIDS in a safe sleep environment, accidental suffocation, or myocarditis.
|
19287341 |
2009 |