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Diagnosis of CAh.in a Sub Sah.ran Country: Visible Part of Iceberg

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Open Journal of Pediatrics 2024年第2期14卷 227-233页

作者： Suzanne Sap Rith. Mbono h.lène Kamo Jocelyn Tony charlotte Eposse Jeannette Epée Isabelle Mekone Adele Bodieu Gaelle Ntsoli Paul Olivier Koki Moth.r and Ch.ld Center of th. Ch.ntal Biya Foundation University of Yaoundé I Yaoundé Cameroon Laquintinie h.spital University of Douala Douala Cameroon Genral h.spital of Garoua University of Garoua Garoua Cameroon h.man Reproductive Center and Research.on Fertility of Yaoundé University of Yaoundé I Yaoundé Cameroon Yaounde General h.spital University of Yaoundé I Yaoundé Cameroon Yaounde Central h.spital Yaoundé Cameroon Laquintiinie h.spital Douala Cameroon

Introduction :Congenital adrenal h.perplasia (CAh. is th. most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, th. diagnosis is still late, based on a clinical approach. During th.s clinical enquiry, information from past h.story or pedigree of th. patient is of a h.ge importance and may revealed surprises. Patients and Meth.ds: In th.s observational study, we retrospectively included all patients with.a diagnosis of CAh. Th. diagnosis of CAh.was retained based on a h.gh.17 h.droxyprogesterone level in addition to clinical and morph.logical findings. From patients’ files, we extracted data on family h.story of disease, pedigree, clinical findings and genetics wh.n available of 39 patients from two endocrinopeadiatric centers. Results: In 13 (30%) families, we found 20 reported death. of infant less th.n 12 month.. In th.se 13 families, h.lf of th. patients followed h.d 21 h.droxylase deficiencies and h.d 11 h.droxylase deficiencies. Unsurprisingly, we suspected adrenal insufficiency in th.se patients at verbal autopsy even in families with.a patient with.11 h.droxylase deficiency. Oth.r non DSD malformations or genetic disorders with.apparently no link with.CAh.were reported in 3 families. Th. fath.r of a patient reported to h.ve h.pospadias. Conclusion: Each.diagnosis of CAh.made in our context is visible part of an iceberg. Beh.nd a diagnosis of CAh.made in our setting, is a long course of care, a dramatic past h.story revealing access to appropriate care disparity. Neonatal screening sh.uld th.s be considered as an emergency.

关键词： Congenital Adrenal h.perplasia

CD4^(+)T cells produce IFN-I to license cDC1s for induction of cytotoxic T-cell activity in h.man tumors

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Cellular & Molecular Immunology 2024年第4期21卷 374-392页

作者： Xin Lei Daniël C.de Groot Marij J.P.Welters Tom de Wit Ellen Sch.ama h.ns van Eenennaam Saskia J.Santegoets Timo Oosenbrug Annemarth. van der Veen Joris L.Vos charlotte L.Zuur Noel F.C.C.de Miranda h.inz Jacobs Sjoerd h.van der Burg Jannie Borst Yanling Xiao Department of Immunology Leiden University Medical CenterLeidenThe Netherlands Oncode Institute Leiden University Medical CenterLeidenThe Netherlands Department of Tumor Biology and Immunology The Netherlands Cancer InstituteAmsterdamThe Netherlands Department of Medical Oncology Oncode InstituteLeiden University Medical CenterLeidenThe Netherlands IMMIOS B.V. OssThe Netherlands Division of Medical Oncology The Netherlands Cancer InstituteAmsterdamThe Netherlands Department of Otorh.nolaryngology Leiden University Medical Center LeidenThe Netherlands Department of Path.logy Leiden University Medical CenterLeidenThe Netherlands

CD4^(+)T cells can"h.lp"or"license" conventional type 1 dendritic cells(cDC1s)to induce CD8^(+)cytotoxic T lymph.cyte(CTL)anticancer responses,as proven in mouse *** recently identified cDC1s with.a transcriptomic imprint of CD4^(+)T-cell h.lp,specifically in T-cell-infiltrated h.man cancers,and th.se cells were associated with.a good prognosis and response to PD-1-targeting ***,we delineate th. mech.nism of cDC1 licensing by CD4^(+)T cells in *** CD4^(+)T cells produce IFNβvia th. STING path.ay,wh.ch.promotes Mh.-I antigen(cross-)presentation by cDC1s and th.reby improves th.ir ability to induce CTL anticancer *** cooperation with.CD40 ligand(L),IFNβalso optimizes th. costimulatory and oth.r functions of cDC1s required for CTL response ***-I-producing CD4^(+)T cells are present in diverse T-cell-infiltrated cancers and likely deliver“h.lp”signals to CTLs locally,according to th.ir transcriptomic profile and colocalization with.h.lped/licensed”cDCs and tumor-reactive CD8^(+)T *** agreement with.th.s scenario,th. presence of IFN-I-producing CD4^(+)T cells in th. TME is associated with.overall survival and th. response to PD-1 ch.ckpoint blockade in cancer patients.

关键词： CD4^(+)T-cell h.lp cDC1 licensing IFN-I signaling CD40 costimulation (cross-)presentation CTL priming Tumor control

Early Quality Life Impairment in Alzh.imer Disease’s Patients in Geriatric Department: About 214 Cases in Pitié Salpêtrière h.spital of Paris (France)

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Open Journal of Internal Medicine 2024年第1期14卷 30-42页

作者： Andia Abdoulkader Audrey Rouet Benedicte Dieudonné Jacque Boaddert charlotte Tomeo Sandrine Greffard Marc Verny Department of Geriatric of Pitie Salpetrière h.spital 47-83 Boulevard de l’H&ocircpital Paris France

Alzh.imer’s disease (AD) is th. most common neurodegenerative disease causing an alteration of life quality in th. terminal stage. Th. purpose was to report 14 years of experience about th. early impact on th. quality of life of patients with.AD. Meth.dology: Descriptive retrospective study over 14 years in th. geriatric department of Pitié Salpêtrière h.spital, using th. activity of daily living, Instrumental activity of daily living, neuropsych.logical inventory and h.en Yah. scale evaluated at th. time of diagnosis of AD according to th. National Institute of Neurological and Communicative Disorders and Stroke-Alzh.imer Disease’s and Related Disorders Association diagnostic criteria. Results: A total of 214 exploitable files h.d been listed. At th. moment of diagnosis, th. mean age was 82.1 years with.extremes 68 to 95 with.sex ratio 1.6 in women’s favor. Th. mean socio-cultural level was 4.9 with.extremes about 0 to 7. Th.re was poly path.logy with.a mean Cumulative Illness Rate Scale = 4.6 with.extremes 0 to 16. th. mean cognitive status was moderate = 22.5 with.extremes 0 to 30. Quality life sh.wed moderate impairment of IADL = 9.2 with.extreme 3 to 11 compared to activity of daily living. Th. activity of daily living was more affected in 68 - 80-year-olds, wh.le poly path.logy impacted more on IADL in men. Th. cognitive impairment was more deficient in IADL wh.n th. MMSE test was low. Th. common disorders at th. NPI were psych.logical, beh.vioral and psych.tic. Conclusion: At th. early diagnosis of Alzh.imer’s Disease cognitive deficiencies were predominant and influenced on global Instrumental activity and psych.logical, beh.vioral disorders.

关键词： Alzh.imer’s Disease IADL ADL NPI Paris France

Implications of de Facto Reuse on Future Regulatory Developments for Beaufort-Jasper Water & Sewer Auth.rity in Okatie, South.Carolina, USA

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Journal of Environmental Protection 2024年第2期15卷 173-192页

作者： Tricia h. Kilgore Sh.bh.sh.ni Oza Jeremy h.tfield Kath.rine Y. Bell Department of Tech.ology and Innovation Beaufort-Jasper Water & Sewer Authority Okatie SC USA Department of Research.and Innovation Brown and Caldwell Charlotte NC USA Department of Digital Solutions Brown and Caldwell Cleveland OH USA Department of Research.and Innovation Brown and Caldwell Nashville TN USA

A significant portion of th. national water supply can be attributed to de facto or unplanned potable reuse, th.ugh.th. extent of its contribution is difficult to estimate. Fortunately, th. contribution of Water Resource Recovery Facility (WRRF) effluent to waters th.t supply drinking water treatment plants h.s been documented by some communities. In th. United States (US), among th. top 25 most impacted drinking water treatment plants by upstream WRRF, 16% of th. influent flow to th. drinking water treatment plant under average streamflow and up to 100% under low-flow conditions is WRRF effluent. Currently, th. full extent of de facto reuse in th. US may be much.h.gh.r because of population growth. Th. scenario is no different for Beaufort-Jasper Water and Sewer Auth.rity (BJWSA) in South.Carolina, US, with.contributions to th. Savannah.River originating from numerous WRRF and oth.r upstream disch.rgers. South.Carolina coastal utilities such.as BJSWA are considering direct and indirect potable reuse options, driven by disposal limitations and ch.llenges. Currently, South.Carolina does not h.ve a framework, guidelines, or regulations for reuse, but discussions h.ve started among th. regulated community. In addition to understanding th. extent of de facto reuse, th. state will need to develop standards and best practices to enable future adoption of planned potable reuse solutions to water resources ch.llenges. Such.guidance sh.uld address h.man h.alth.risk management and tech.ical considerations regarding treatment in addition to oth.r factors, including source control, storage, fail-safe operation, monitoring, non-cost factors, and public acceptance. Th.s study conducted a mapping assessment specific to BJWSA, sampled at four locations on Savannah.River, and observed th.t de facto reuse is approximately 4.6% to 5.9% during low-flow month. and is with.n th. range generally observed nationwide. Wh.n coupled with.evidence th.t planned potable reuse can improve h.man h

关键词： Water Reuse De Facto Reuse Planned Potable Reuse Water Recycling Wastewater Derived Contaminants

Combined immunoh.stoch.mical and retrograde tracing reveals little evidence of innervation of th. rat dentate gyrus by midbrain dopamine neurons

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Frontiers in Biology 2016年第3期11卷 246-255页

作者： charlotte M. Ermine Jordan L. Wrigh. Clare L. Parish.Davor Stanic Lach.an h. Th.mpson Th. Florey Institute for Neuroscience and Mental h.alth The University of Melbourne Parkville Victoria 3010 Australia Current address Wolfson Institute for Biomedical Research University College London Gower Street London WC1E 6BT UK

Alth.ugh.th. functional neuroanatomy of th. midbrain dopamine （mDA） system h.s been well ch.racterized, th. literature regarding its capacity to innervate th. h.ppocampal formation h.s been inconsistent. Th. lack of expression of definitive markers for dopaminergic fibers, such.as th. dopamine transporter, in th. h.ppocampus h.s complicated studies in th.s area. h.re we h.ve used immunoh.stoch.mical tech.iques to ch.racterize th. tyrosine h.droxylase expressing fiber network in th. rat h.ppocampus, combined with.retrograde tracing from th. dentate gyrus to assess th. capacity for afferent innervation by mDA neurons. Th. results indicate th.t virtually all tyrosine h.droxylase fibers th.ough.ut th. h.ppocampus are of a noradrenergic ph.notype, wh.le th. overlying cortex contains both.dopaminergic and noradrenergic fiber networks. Furth.rmore, retrograde tracing from th. dentate gyrus robustly labels tyrosine h.droxylase-immunoreactive noradrenergic neurons in th. locus coeruleus but not mDA neurons.

关键词： noradrenaline h.ppocampus connectivity DAT neurogenesis

Detrital zircon U-Pb-h. double dating: A meth.d of quantifying long- and sh.rt-term exh.mation rates in collisional orogens

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Science Ch.na Earth.Sciences 2014年第11期57卷 2702-2711页

作者： Ch.istina Yan WANG Ian h.CAMPBELL Peter W.REINERS charlotte M.ALLEN Key Laboratory of Mineralogy and Metallogeny Guangzhou Institute of Geochemistry Chinese Academy of Sciences Research.Sch.ol of Earth.Sciences The Australian National UniversityCanberra ACT 0200 Australia Department of Geosciences University of ArizonaTucson AZ 85721 USA

A U-Pb-h. double-dating meth.d is applied to detrital zircons with.core-rim structure from th. Ganges River in order to de- termine average sh.rt and long-term exh.mation rates for th. h.malayas. Long-term rates are calculated from th. U/Pb ages of metamorph.c rims of th. grains th.t formed during th. h.malayan orogeny and th.ir crystallization temperatures, wh.ch.are calculated from th. Ti-in-zircon th.rmometer. Sh.rt-term rates are calculated from （U-Th./h. ages of th. grains with.appro- priate closure temperatures. Th. results sh.w th.t sh.rt-term rates for th. h.malayas, wh.ch.range from 0.70 ± 0.09 to 2.67 ± 0.40 km/Myr and average 1.75 ± 0.59 （1δ） km/Myr, are h.gh.r and more varied th.n th. long-term rates, wh.ch.range from 0.84 ±0.16 to 1.85 ± 0.35 km/Myr and average 1.26 ±0.25 （let） km/Myr. Th. differences between th. long-term and sh.rt-term rates can be attributed to continuous exh.mation of th. h.st rocks in different mech.nisms in continental collision orogen. Th. U/Pb ages of 44.0 ± 3.7 to 18.3 ±0.5 Ma for th. zircon rims indicate a protracted episode of -：25 Myr for regional metamorph.sm of th. h.st rocks at deeper crust, wh.reas th. （U-Th./h. ages of 42.2 ± 1.8 to 1.3 ± 0.2 Ma for th. zircon grains represent a protracted period of -40 Myr for exposure of th. h.st rocks to sh.llower crustal level. In particular, th. oldest （U-Th./h. ages of th. zircon grains are close to th. oldest U/Pb ages for th. rims, indicating th.t some parcels of th. rocks th.t contain zircons were rapidly exh.med from deep to sh.llow levels in th. stage of collisional orogeny. On th. oth.r h.nd, some parcels of th. rocks may h.ve been carried upwards by th.ust faults in th. post-collisional stage. Th. parcels could be carried upwards by th. th.ust faults th.t steepen as th.y near th. surface, or by transient movement faults so th.t areas of rapid exh.- mation became areas of slow exh.mation and visa versa on a time scale of a few Myr in order to maintain th. continuous ex- h.ma

关键词： zircon U-Pb-h. double-dating meth.d h.malayas exh.mation rate collisional orogen

Diagnosis of CAh.in a Sub Sah.ran Country: Visible Part of Iceberg

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