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991.
Slavotinek A Lee SS Davis R Shrit A Leppig KA Rhim J Jasnosz K Albertson D Pinkel D 《Journal of medical genetics》2005,42(9):730-736
Background: Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic counselling. The cause of FS is unknown. Methods: We have used array comparative genomic hybridisation (array CGH) to screen patients who have CDH and additional phenotypic anomalies consistent with FS for cryptic chromosome aberrations. Results: We present three probands who were previously diagnosed with FS who had submicroscopic chromosome deletions detected by array CGH after normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving chromosome band 15q26.2 and one male had a deletion of chromosome band 8p23.1. Conclusions: We conclude that phenotypes similar to FS can be caused by submicroscopic chromosome deletions and that high resolution karyotyping, including array CGH if possible, should be performed prior to the diagnosis of FS to provide an accurate recurrence risk in patients with CDH and physical anomalies consistent with FS. 相似文献
992.
993.
Kate Keenan Debra Boeldt Diane Chen Claire Coyne Radiah Donald Jeanne Duax Katherine Hart Jennifer Perrott Jennifer Strickland Barbara Danis Carri Hill Shante Davis Smita Kampani Marisha Humphries 《Journal of child psychology and psychiatry, and allied disciplines》2011,52(1):47-55
Background: Diagnostic validity of oppositional defiant and conduct disorders (ODD and CD) for preschoolers has been questioned based on concerns regarding the ability to differentiate normative, transient disruptive behavior from clinical symptoms. Data on concurrent validity have accumulated, but predictive validity is limited. Predictive validity is critical to refuting the hypothesis that diagnosing ODD and CD in young children leads to pathologizing normal behavior. ODD and CD have emerged as gateway disorders to many forms of adult psychopathology. Establishing how early we can identify symptoms and disorders that herald poor prognosis is one of the most important goals for research on etiology and prevention. Methods: Subjects were 3–5‐year‐old consecutive referrals to a child psychiatry clinic (n = 123) and demographically matched children from a pediatric clinic (n = 100). A diagnostic interview was used to assess DSM‐IV ODD and CD in a prospective follow‐up design from preschool to school age. Stability of ODD and CD diagnoses and level of impairment were tested as a function of preschool diagnosis. Results: Over 80% of preschoolers diagnosed with ODD and approximately 60% of preschoolers diagnosed with CD met criteria for the same disorder during follow‐up. Impairment over time varied significantly as a function of stability of diagnosis across three years. Conclusions: These results provide the first evidence of the predictive validity of DSM‐IV ODD and CD in clinically referred preschool children. The findings challenge the assumption that symptoms of disruptive behavior disorders that occur during the preschool period tend to be transient. 相似文献
994.
Elysia Poggi Davis Laura M. Glynn Feizal Waffarn Curt A. Sandman 《Journal of child psychology and psychiatry, and allied disciplines》2011,52(2):119-129
Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress. Methods: The study sample comprised 116 women and their full term infants. Maternal plasma cortisol and report of stress, anxiety and depression were assessed at 15, 19, 25, 31 and 36 + weeks’ gestational age. Infant cortisol and behavioral responses to the painful stress of a heel‐stick blood draw were evaluated at 24 hours after birth. The association between prenatal maternal measures and infant cortisol and behavioral stress responses was examined using hierarchical linear growth curve modeling. Results: A larger infant cortisol response to the heel‐stick procedure was associated with exposure to elevated concentrations of maternal cortisol during the late second and third trimesters. Additionally, a slower rate of behavioral recovery from the painful stress of a heel‐stick blood draw was predicted by elevated levels of maternal cortisol early in pregnancy as well as prenatal maternal psychosocial stress throughout gestation. These associations could not be explained by mode of delivery, prenatal medical history, socioeconomic status or child race, sex or birth order. Conclusions: These data suggest that exposure to maternal cortisol and psychosocial stress exerts programming influences on the developing fetus with consequences for infant stress regulation. 相似文献
995.
KI Wheeler GM Schmölzer CJ Morley PG Davis 《Acta paediatrica (Oslo, Norway : 1992)》2011,100(1):67-70
Background: Ventilator frequency is one of the determinants of tidal volume delivery during high‐frequency ventilation. Clinicians increasingly use data on ventilator displays to inform their decisions. Aim: To measure the frequencies delivered by the Dräger Babylog 8000plus ventilator when used in high‐frequency mode. Methods: Ventilator waveforms using a test lung were recorded at the full range of settings 5–20 Hz using Spectra software at 1000 Hz. The changes in frequency produced by a 1‐ Hz change in set frequency were calculated. Actual and displayed frequencies were compared. Results: For settings up to 12 Hz, median (range) difference between set and delivered frequencies was 0 (?0.4 to +0.1) Hz. Above 12 Hz, delivered frequency varied by ?0.3 (?1.9 to +0.3) Hz. For 1‐ Hz changes in frequency settings, in the range 5–12 Hz, 1‐ Hz changes produced a change in delivered frequency of 1.0 (0.6–1.4) Hz. Above 12 Hz, the corresponding changes were 0.7 (0–2.9) Hz. The ventilator displays the set frequency during operation rather than the delivered frequency. Conclusion: At 12 Hz and below, the differences between set and delivered frequencies were relatively small compared with those at 13 Hz and higher. Above 13 Hz, the difference between set and delivered frequencies was up to 2.9 Hz. Some frequency setting changes did not result in a change in delivered frequency. 相似文献
996.
997.
Treiber FA Turner JR Davis H Strong WB 《International journal of behavioral medicine》1997,4(4):278-291
Two hundred forty-six children (96 Whites, of whom 51 were mates; 150 African- Americans, of whom 69 were males) with a familial
history of essential hypertension (EH) were re-evaluated 5 years after an initial evaluation. During the initial visit, anthropometric,
demographic, and resting cardiovascular (CV) parameters (designated initial baseline levels) were assessed. These CV parameters
(systolic and diastolic blood pressure [BP], heart rate, cardiac output index [CI], and total peripheral resistance index
[TPRI]) were also measured during postural challenge, a video game challenge, and a cold pressor task. At follow-up, resting
CV parameters were again evaluated, and designated as follow-up resting levels. Moderate temporal stability (r range = .43-.56) was observed for all resting CV parameters. Mean stress responses for each CV parameter for all 3 stressors
during the initial visit were positively related to the respective CV follow-up resting level. BP stress responses to postural
change and video game challenge were found to be significant independent predictors of future resting BP after controlling
for standard EH risk factors. Follow-up resting CI was not predicted by any stress responses, whereas follow-up resting TPRI
was predicted by TPRI responses to the video game after controlling for standard EH risk Factors. These results contrast with
those from an earlier 1-year follow-up. where stress responses for neither CI nor TPRI predicted follow-up resting levels.
It appears that, as children get older. TPRI stress responses play a stronger role in vasoconstrictive function.
This research was supported by National Institutes of Health Grant HL41781. 相似文献
998.
Involvement of Glucocorticoids in the Reorganization of
the Amphibian Immune System at Metamorphosis
Louise A. Rollins-Smith Katherine S. Barker A. Tray Davis 《Clinical & developmental immunology》1997,5(2):145-152
In recent years, integrative animal biologists and behavioral scientists have begun to understand
the complex interactions between the immune system and the neuroendocrine system.
Amphibian metamorphosis offers a unique opportunity to study dramatic hormone-driven
changes in the immune system in a compressed time frame. In the South African clawed frog,
Xenopus laevis, the larval pattern of immunity is distinct from that of the adult, and metamorphosis
marks the transition from one pattern to the other. Climax of metamorphosis is
characterized by significant elevations in thyroid hormones, glucocorticoid hormones, and the
pituitary hormones, prolactin and growth hormone. Previously, we and others have shown that
elevated levels of unbound glucocorticoid hormones found at climax of metamorphosis are associated
with a natural decline in lymphocyte numbers, lymphocyte viability, and mitogen-induced
proliferation. Here we present evidence that the mechanism for loss of lymphocytes at
metamorphosis is glucocorticoid-induced apoptosis. Inhibition of lymphocyte function and
loss of lymphocytes in the thymus and spleen are reversible by in vitro or in vivo treatment
with the glucocorticoid receptor antagonist, RU486, whereas the mineralocorticoid receptor
antagonist, RU26752, is poorly effective. These observations support the hypothesis that loss
of larval lymphocytes and changes in lymphocyte function are due to elevated concentrations
of glucocorticoids that remove unnecessary lymphocytes to allow for development of immunological
tolerance to the new adult-specific antigens that appear as a result of metamorphosis. 相似文献
999.
Samantha J. Bryen Lisa J. Ewans Jason Pinner Suzanna C. MacLennan Sandra Donkervoort Diana Castro Ana Tpf Gina O'Grady Beryl Cummings Katherine R. Chao Ben Weisburd Laurent Francioli Fathimath Faiz Adam M. Bournazos Ying Hu Carla Grosmann Denise M. Malicki Helen Doyle Nanna Witting John Vissing Kristl G. Claeys Kathryn Urankar Ana Beleza‐Meireles Julia Baptista Sian Ellard Marco Savarese Mridul Johari Anna Vihola Bjarne Udd Anirban Majumdar Volker Straub Carsten G. Bnnemann Daniel G. MacArthur Mark R. Davis Sandra T. Cooper 《Human mutation》2020,41(2):403-411
1000.
Shuji Mizumoto Andreas R. Janecke Azita Sadeghpour Gundula Povysil Marie T. McDonald Sheila Unger Susanne Greber‐Platzer Kristen L. Deak Nicholas Katsanis Andrea Superti‐Furga Kazuyuki Sugahara Erica E. Davis Shuhei Yamada Julia Vodopiutz 《Human mutation》2020,41(3):655-667
Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthesis and attachment of glycans. CDGs manifest as a broad spectrum of disease, most often including neurodevelopmental and skeletal abnormalities and skin laxity. Two patients with biallelic CSGALNACT1 variants and a mild skeletal dysplasia have been described previously. We investigated two unrelated patients presenting with short stature with advanced bone age, facial dysmorphism, and mild language delay, in whom trio‐exome sequencing identified novel biallelic CSGALNACT1 variants: compound heterozygosity for c.1294G>T (p.Asp432Tyr) and the deletion of exon 4 that includes the start codon in one patient, and homozygosity for c.791A>G (p.Asn264Ser) in the other patient. CSGALNACT1 encodes CSGalNAcT‐1, a key enzyme in the biosynthesis of sulfated glycosaminoglycans chondroitin and dermatan sulfate. Biochemical studies demonstrated significantly reduced CSGalNAcT‐1 activity of the novel missense variants, as reported previously for the p.Pro384Arg variant. Altered levels of chondroitin, dermatan, and heparan sulfate moieties were observed in patients’ fibroblasts compared to controls. Our data indicate that biallelic loss‐of‐function mutations in CSGALNACT1 disturb glycosaminoglycan synthesis and cause a mild skeletal dysplasia with advanced bone age, CSGALNACT1‐CDG. 相似文献