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My journey into the world of sphingolipids and sphingolipidoses.

ABSTRACT: Analysis of lipid storage in postmortem brains of patients with amaurotic idiocy led to the recognition of five lysosomal ganglioside storage diseases and identification of their inherited metabolic blocks. Purification of lysosomal acid sphingomyelinase and ceramidase and analysis of their gene structures were the prerequisites for the clarification of Niemann-Pick and Farber disease. For lipid catabolism, intraendosomal vesicles are formed during the endocytotic pathway. They are subjected to lipid sorting processes and were identified as luminal platforms for cellular lipid and membrane degradation. Lipid binding glycoproteins solubilize lipids from these cholesterol poor membranes and present them to water-soluble hydrolases for digestion. Biosynthesis and intracellular trafficking of lysosomal hydrolases (hexosaminidases, acid sphingomyelinase and ceramidase) and lipid binding and transfer proteins (GM2 activator, saposins) were analyzed to identify the molecular and metabolic basis of several sphingolipidoses. Studies on the biosynthesis of glycosphingolipids yielded the scheme of Combinatorial Ganglioside Biosynthesis involving promiscuous glycosyltransferases. Their defects in mutagenized mice impair brain development and function.

SUBMITTER: Sandhoff K

PROVIDER: S-EPMC3552047 | biostudies-other | 2012

REPOSITORIES: biostudies-other

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My journey into the world of sphingolipids and sphingolipidoses.

Sandhoff Konrad K

Proceedings of the Japan Academy. Series B, Physical and biological sciences 20120101 10

Analysis of lipid storage in postmortem brains of patients with amaurotic idiocy led to the recognition of five lysosomal ganglioside storage diseases and identification of their inherited metabolic blocks. Purification of lysosomal acid sphingomyelinase and ceramidase and analysis of their gene structures were the prerequisites for the clarification of Niemann-Pick and Farber disease. For lipid catabolism, intraendosomal vesicles are formed during the endocytotic pathway. They are subjected to ...[more]

PMID: 23229750

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Project description:Although shorter time to pediatric resective epilepsy surgery is strongly associated with greater disease severity, other nonclinical diagnostic and sociodemographic factors also play a role. We aimed to examine parent-reported barriers to timely receipt of pediatric epilepsy surgery.We conducted 37 interviews of parents of children who previously had resective epilepsy surgery at University of California Los Angeles (UCLA; 2006-2011). Interviews were audio-recorded, transcribed, and systematically coded using thematic analysis by two independent coders, and subsequently checked for agreement. Clinical data, including "time to surgery" (age of epilepsy onset to surgery) were abstracted from medical records.The mean time to surgery was 5.3 years (standard deviation [SD] 3.8); surgery types included 32% hemispherectomy, 43% lobar/focal, and 24% multilobar. At surgery, parents were on average 38.4 years (SD 6.6) and children were on average 8.2 years (SD 4.7). The more arduous and longer aspect of the journey to surgery was perceived by parents to be experienced prior to presurgical referral. The time from second antiepileptic drug failure to presurgical referral was ? 1 year in 64% of children. Thematic analysis revealed four themes (with subthemes) along the journey to surgery and beyond: (1) recognition--"something is wrong" (unfamiliarity with epilepsy, identification of medical emergency); (2) searching and finding--"a circuitous journey" (information seeking, finding the right doctors, multiple medications, insurance obstacles, parental stress); (3) surgery is a viable option--"the right spot" (surgery as last resort, surgery as best option, hoping for candidacy); and (4) life now--"we took the steps we needed to" (a new life, giving back).Multipronged interventions targeting parent-, provider-, and system-based barriers should focus on the critical presurgical referral period; such interventions are needed to remediate delays and improve access to subspecialty care for children with medically refractory epilepsy and potentially eligible for surgery.

Project description:BackgroundThe role of eHealth programs to support patients through surgical pathways, including total hip arthroplasty (THA), is rapidly growing and offers the potential to improve patient engagement, self-care, and outcomes.ObjectiveThe aim of this study is to compare the effects of an eHealth program (intervention) versus standard care for pre- and postoperative education on patient outcomes for primary THA.MethodsA prospective parallel randomized controlled trial with two arms (standard care and standard care plus access to the eHealth education program) was conducted. Participants included those who underwent THA. Outcome measures were collected preadmission, at 6 weeks, and at 3 and 6 months after surgery. The primary outcome was the Hip Dysfunction and Osteoarthritis Outcome Score. Secondary outcomes were a 5-level 5-dimension quality of life measure and the self-efficacy for managing chronic disease scale. Demographic and clinical characteristics were also collected. A satisfaction survey was completed by all participants 6 weeks after surgery, and those in the intervention arm completed an additional survey specific to the eHealth program.ResultsA total of 99 patients were recruited: 50 in the eHealth program (intervention) and 49 in standard care (control). Clinical improvements were demonstrated in both groups across all time points. Per-protocol analysis demonstrated no differences between the groups for all outcome measures across all time points. Participants in the eHealth program reported that the program was accessible, that they felt comfortable using it, and that the information was helpful.ConclusionsThis study demonstrated that the eHealth program, in addition to standard care, had no additional benefit to THA recovery compared with standard care alone. The study found that the eHealth program was highly valued by participants, and it supported the preoperative preparation, recovery, and postoperative rehabilitation of participants.Trial registrationAustralian New Zealand Clinical Trial Registry ACTRN12617001433392; http://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=373657.

Dataset Information

My journey into the world of sphingolipids and sphingolipidoses.

Publications

My journey into the world of sphingolipids and sphingolipidoses.

Similar Datasets

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