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A diagnosis with a twist:Ultrasonographic sensitivity and predictors of pediatric ovarian torsion within a large pediatric hospital

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World Journal of Emergency Medicine 2022年第3期13卷 229-231页

作者： mark k.hewitt Jesse E.Marshall-Sheppard April J.kam Department of Medicine Division of Emergency MedicineMcMaster UniversityHamilton L8S 4L8Canada Department of Family Medicine University of TorontoToronto M5S1A1Canada Department of Pediatrics Division of Pediatric Emergency MedicineMcMaster UniversityHamilton 8S 4L8Canada

The diagnosis of ovarian torsion(OT)in girls is challenging compared to that of testicular torsion in boys for many reasons,but it behooves the medical community to continue to strive to better identify this uncommon but clinically important pathology^([1]) OT occurs when the ovary and associated structures rotate around its vascular pedicle,leading to eventually irreversible necrosis.^([2,3])Studies attempting to identify clinical features for early diagnosis have not reached a consensus on the best clinical predictors of this condition,making radiographic imaging of the ovaries even more crucial.^([4,5])

关键词： diagnosis pediatric torsion

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Heterozygous carriers of galactocerebrosidase mutations that cause krabbe disease have impaired microglial function and defective repair of myelin damage

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Neural Regeneration Research 2018年第3期13卷 393-401页

作者： Nicole J.Scott-hewitt Christopher J.Folts mark D.Noble Department of Biomedical Genetics University of Rochester School of Medicine and Dentistry

This review addresses two puzzling findings related to mutations in galactocerebrosidase （GALC） that cause krabbe disease （kD）, a severe lysosomal storage disorder characterized by extensive myelin damage in children with mutations in both GALC alleles. First, heterozygous carriers of kD-causing mutations, which include the biological parents of children with kD, exhibit increased risk for developing other diseases. Second, variants in the GALC locus increase the risk of developing multiple sclerosis （MS）, another disease characterized by extensive myelin damage. What explains these correlations？ In studies on cuprizone-induced myelin damage in heterozygous （GALC＋/–） mice carrying one copy of a mutation that causes kD-like disease, the extent of damage was similar in GALC＋/– and wild-type （WT） mice. In contrast, GALC＋/- mice had striking defects in repair of cuprizone-induced damage. We further found unexpected microglial defects in myelin debris clearance and in the ability to up-regulate the Trem2 microglial protein critical for debris uptake. These defects were rescued by exposure to a lysosomal re-acidifying drug discovered in our studies on kD, and which provides multiple clinically relevant benefits in the twitcher （GALC＋/–） mouse model of kD. Thus, heterozygous GALC mutations cause effects on biological function that may help to understand the increased disease risk in heterozygous carriers of such mutations and to understand why GALC variations increase the risk of MS. Our findings indicate that while some genetic risk factors may contribute to complex diseases by increasing the risk of tissue damage, others may do so by compromising tissue repair.

关键词： vulnerability locus multiple sclerosis krabbe disease galactocerebrosidase microglia myelin repair lysosomal storage disorders heterozygous carriers Trem2 demyelination

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Non-physician endoscopists: A systematic review

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World Journal of Gastroenterology 2015年第16期21卷 5056-5071页

作者： Maximilian Stephens Luke F Hourigan mark Appleyard George Ostapowicz mark Schoeman Paul V Desmond Jane M Andrews Michael Bourke David hewitt David A Margolin Gerald J Holtmann Department of Gastroenterology and Hepatology Princess Alexandra Hospital Faculty of Medicine and Biomedical Sciences University of Queensland Department of Gastroenterology and Hepatology RBWH Department of Gastroenterology and Hepatology Gold Coast Hospital QLD 4215 Department of Gastro-enterology and Hepatology Royal Adelaide Hospital and University of Adelaide St Vincent’s Hospital University of MelbourneMelbourne VIC 3010Australia Department of Gastroenterology and Hepatology Westmead HospitalUniversity of Sydney School of Medicine University of Queensland Department of Gastroenterology Queensland Elizabeth II Jubilee HospitalCoopers PlainsBrisbane QLD 4108Australia Department of Colon and Rectal Surgery Ochsner Clinic Foundation Ochsner Clinical SchoolUniversity of Queensland

AIM:To examine the available evidence on safety, competency and cost-effectiveness of nursing staff providing gastrointestinal(GI) endoscopy ***:The literature was searched for publications reporting nurse endoscopy using several databases and specific search *** were screened against eligibility criteria and for *** searches yielded 74 eligible and relevant articles; 26 of these studies were primary research articles using original datasets relating to the ability of nonphysician *** publications included a total of 28883 procedures performed by non-physician ***:The number of publications in the field of non-specialist gastrointestinal endoscopy reached a peak between 1999 and 2001 and has decreased thereafter.17/26 studies related to flexible sigmoidoscopies,5 to upper GI endoscopy and 6 to *** studies were from metropolitan centres with nurses working under strict supervision and guidance by specialist *** distribution of publications showed the majority of research was conducted in the United States(43%),the United kingdom(39%)and the Netherlands(7%).Most studies conclude that after appropriate training nurseendoscopists safely perform ***,in relation to endoscopic competency,safety or patient satisfaction,all studies had major methodological *** were often not randomized(21/26studies)and not appropriately *** relation to cost-efficiency,nurse endoscopists were less costeffective per procedure at year 1 when compared to services provided by physicians,due largely to the increased need for subsequent endoscopies,specialist follow-up and primary care ***:Contrary to general beliefs,endoscopic services provided by nurse endoscopists are not more cost effective compared to standard service models and evidence suggests the *** significant shortcomings and biases limit the validity and

关键词： Nurse endoscopist Cost-benefit Servicemodel Patient satisfaction Outcome parameter

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