Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726

Irons, Mira

doi:10.1203/01.pdr.0000146398.61649.74

Cited by 3 publications

(2 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…SLOS was previously diagnosed only on the basis of clinical criteria. However, in 1993, SLOS became classified as an inborn error of metabolism, as affected patients lack the microsomal enzyme, 7‐DHC reductase (3β‐hydroxysterol‐delta‐7‐reductase; DHCR7) [Irons et al, 1993; Tint et al, 1994], which catalyzes the conversion of 7‐DHC to cholesterol in the final step of cholesterol biosynthesis [Irons, 2004]. Diagnosis of SLOS at the present time relies upon demonstration of elevated levels of 7‐DHC in affected patients.…”

Section: Introductionmentioning

confidence: 99%

Cell‐adhesive thermogelling PNIPAAm/hyaluronic acid cell delivery hydrogels for potential application as minimally invasive retinal therapeutics

Mazumder

Fitzpatrick

Muirhead

et al. 2012

J Biomedical Materials Res

View full text Add to dashboard Cite

Copolymers of N-isopropylacrylamide (NIPAAm) and acrylic acid N-hydroxysuccinimide (NAS) were synthesized via free radical polymerization and conjugated with amine-functionalized hyaluronic acid (HA) and cell adhesive RGDS peptides. These novel copolymers were designed to facilitate noninvasive delivery of a liquid suspension of cells into the delicate subretinal space for treatment of retinal degenerative diseases such as age-related macular degeneration (AMD) and diabetic retinopathy. The various synthesized copolymers all displayed subphysiological phase transition temperatures, thereby allowing temperature-induced scaffold formation and subsequent entrapment of transplanted cells within an adhesive support matrix. Successful grafting of HA and RGDS peptides were confirmed with Fourier Transform Infrared (FTIR) spectroscopy and quantified with (1)H Nuclear Magnetic Resonance (NMR) spectroscopy. All copolymers demonstrated excellent compatibility with retinal pigment epithelial (RPE) cells in culture and minimal host response was observed following subcutaneous implantation into hairless SKH1-E mice (strain code 447).

show abstract

Section: Introductionmentioning

confidence: 99%

Cell‐adhesive thermogelling PNIPAAm/hyaluronic acid cell delivery hydrogels for potential application as minimally invasive retinal therapeutics

Mazumder

Fitzpatrick

Muirhead

et al. 2012

J Biomedical Materials Res

View full text Add to dashboard Cite

show abstract

“…SLOS was previously diagnosed only on the basis of clinical criteria. However, in 1993, SLOS became classified as an inborn error of metabolism, as affected patients lack the microsomal enzyme, 7-DHC reductase (3b-hydroxysterol-delta-7-reductase; DHCR7) [Irons et al, 1993;Tint et al, 1994], which catalyzes the conversion of 7-DHC to cholesterol in the final step of cholesterol biosynthesis [Irons, 2004]. Diagnosis of SLOS at the present time relies upon demonstration of elevated levels of 7-DHC in affected patients.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome

Żarowski¹,

Vendrame²,

Irons³

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, and intellectual disability. It is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol-delta-7-reductase, which results in increased serum levels of 7-dehydrocholesterol (7-DHC), and decreased levels of cholesterol. This study assesses the prevalence of sleep problems in patients with SLOS. The study group comprised 18 subjects with SLOS, ages 2-31 years (median 10.7 ± 8.5 years). Parents completed several questionnaires (Intake Demographic Form; Pediatric Sleep Questionnaire; Pediatric Daytime Sleepiness Scale). The SLOS subjects had symptoms of sleep-disordered breathing (50% snoring; 66.7% mouth breathing), problems with sleep onset [difficulty falling asleep (61.1%) sleep onset time >30 min (62%)], sleep maintenance [wake up screaming (61.1%), waking up more than twice (44.4%), having trouble falling back to sleep (66.7%), waking up early in the morning (61.1%), and restless sleep (50%)]. The subjects with SLOS needed parents in the room to fall asleep (50%), watch TV or listen to music to fall asleep (44.4%), and described bed sharing (33.3%), indicating sleep-anxiety and sleep-associations. Symptoms of excessive-daytime-sleepiness were frequently reported [un-refreshed in the morning (38.9%), daytime sleepiness (44.4%), and daytime naps (55.6%)]. Parents frequently observed difficulty of organizing tasks (66.7%), and easy distractibility (88.9%). Sleep problems such as sleep-disordered breathing, sleep-related anxiety and sleep associations, disturbed sleep patterns at night, and excessive daytime sleepiness are frequent in children with SLOS.

show abstract

Statins for Smith-Lemli-Opitz syndrome

Ballout

Livinski

et al. 2022

Cochrane Database of Systematic Reviews

View full text Add to dashboard Cite

Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726

Cited by 3 publications

References 18 publications

Cell‐adhesive thermogelling PNIPAAm/hyaluronic acid cell delivery hydrogels for potential application as minimally invasive retinal therapeutics

Cell‐adhesive thermogelling PNIPAAm/hyaluronic acid cell delivery hydrogels for potential application as minimally invasive retinal therapeutics

Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome

Statins for Smith-Lemli-Opitz syndrome

Contact Info

Product

Resources

About