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141.
Charles R. Kiefer James B. McKenney Jane F. Trainor Richard W. Lambrecht Herbert L. Bonkovsky Lawrence M. Lifshitz C. Robert Valeri L. Michael Snyder 《The American journal of pathology》1998,153(3):703-708
To further the understanding of oxidative effects on inflammation injury to muscle fiber structure, fluorescent imaging analysis of human striated muscle tissues from a variety of inflammatory or postinflammatory etiologies was undertaken in a search for accumulated coproporphyrin, a red autofluorescent byproduct of heme biosynthesis that would theoretically be formed under oxidative insult. Using a differential excitation method of in situ analysis, porphyrin autofluorescence was detected in intact fibers within the context of the yellow autofluorescent subsarcolemmal lipofuscin granules. Relative measurements of porphyrin concentration in the granules from different patients indicated that the acute/subacute inflammatory specimens grouped significantly higher than the more chronic inflammatory and nonpathological specimens. Myoglobin was also found to be associated with the granules. Myoglobin heme iron could potentially serve as a Fenton reagent for the intracellular generation of hydroxyl radicals, which are responsible for the oxidation of the porphyrinogens. High-performance liquid chromatography analysis of extracted dense particles revealed coproporphyrin as the sole porphyrin present. The observation of coproporphyrin within lipofuscin granules, previously unreported, suggests that lipofuscin accumulation in striated muscle may begin under conditions of acute oxidative stress, as marked by the oxidation of extramitochondrial porphyrinogens that are immediately incorporated into the granules. 相似文献
142.
Michelle K Williamson Jane Pirkis Jon J Pfaff Orla Tyson Moira Sim Ngaire Kerse Nicola T Lautenschlager Nigel P Stocks Osvaldo P Almeida 《BMC medical research methodology》2007,7(1):42
Background
Recruiting and retaining GPs for research can prove difficult, and may result in sub-optimal patient participation where GPs are required to recruit patients. Low participation rates may affect the validity of research. 相似文献143.
The murine olfactory epithelium (OE) generates olfactory receptor neurons (ORNs) throughout development and into adulthood, but only a few of the factors regulating olfactory neuro- and glio-genesis have been delineated. Notch receptors maintain CNS neuronal progenitors and drive glial differentiation, and the Notch effectors Hes 1 and 5 are expressed in the OE, but the Notch receptors that stimulate Hes gene activation in defined lineages during OE development have not been determined. Here, we first use RT-PCR to reveal which Notch receptors and ligands are expressed in the developing and adult OE. This is followed by immunofluorescent detection, combined with lineage-specific markers to define the stage-specific developmental expression of different Notch family members. We show that throughout development, Notch 1 and 3 are expressed in cells retained within the lamina propria, where Notch 3 is expressed in olfactory ensheathing cells (OECs). In contrast, Notch 2 is expressed in apical embryonic and early postnatal OE neuronal progenitors. In postnatal and adult OE, Notch 1 is expressed predominantly in Bowman's glands, and Notch 2 in sustentacular cells. Notch 2 and Notch 1/3 may, therefore, have different roles in the commitment and differentiation of neuronal and glial lineages of the OE during development, and the maintenance of non-neuronal phenotypes postnatally. 相似文献
144.
Swiedler SJ Beck M Bajbouj M Giugliani R Schwartz I Harmatz P Wraith JE Roberts J Ketteridge D Hopwood JJ Guffon N Sá Miranda MC Teles EL Berger KI Piscia-Nichols C 《American journal of medical genetics. Part A》2005,(2):144-150
A cross-sectional survey in individuals affected with the lysosomal storage disease Mucopolysaccharidosis VI (MPS VI) was conducted to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of the disease. The survey evaluated 121 bona fide MPS VI-affected individuals over the age of 4 years from 15 countries across the Americas, Europe, and Australasia representing greater than 10% of the estimated world prevalence of the disease. A medical history, complete physical exam, urinary GAG determination, and assessment of several clinical measures related to physical endurance, pulmonary function, joint range of motion, strength, and quality of life were completed for each participant. Although a wide variation in clinical presentation was observed, several general findings were obtained reflecting progression of the disease. Impaired physical endurance, as measured by the distance achieved in a 6-min walk, could be demonstrated across all age groups of MPS VI-affected individuals. High urinary GAG values (>200 mug/mg creatinine) were associated with an accelerated clinical course comprised of age-adjusted short stature and low body weight, impaired endurance, compromised pulmonary function, and reduced joint range of motion. An unexpected result was the predominance of urinary GAG values <100 mug/mg creatinine for those participants over the age of 20 years. Pending the collection of longitudinal data, these results suggest that urinary GAG levels predict clinical morbidity, and longer-term survival is associated with urinary GAG levels below a threshold of 100 mug/mg creatinine. 相似文献
145.
A controlled study comparing patients with and without polycystic ovaries undergoing in-vitro fertilization 总被引:6,自引:13,他引:6
MacDougall Margaret Jane; Tan Seang-Lin; Balen Adam; Jacobs Howard S. 《Human reproduction (Oxford, England)》1993,8(2):233-237
The outcome of in-vitro fertilization and embryo transfer (IVFET)was compared in 76 patients with polycystic ovaries (PCO) diagnosedon pre-treatment ultrasound scan, and 76 control patients whohad normal ovaries and were matched for age, cause of infertilityand stimulation regimen. Despite receiving significantly lesshuman menopausal gonadotrophin (HMG), patients with PCO, ascompared with controls, had significantly higher serum oestradiollevels on the day of human chronic gonadotrophin administration(5940 ± 255 versus 4370 ± 240 pmol/1, P < 0.001),developed more follicles (14.9 ± 0.7 versus 9.8 ±0.6, P < 0.001) and produced more oocytes (9.3 ± 0.6versus 6.8 ± 0.5, P = 0.003). However, fertilizationrates were reduced in the PCO patients (52.8 ± 3.4% versus66.1 ± 3.4%, P = 0.007). There was no significant differencein cleavage rates. The pregnancy rate/embryo transfer was 25.4%in the PCO group and 23.0% in the group with normal ovaries.There were three high order multiple pregnancies in the PCOgroup compared with none in the group with normal ovaries. Ofthe PCO patients, 10.5% developed moderate/severe ovarian hyperstimulationsyndrome (OHSS) compared with none of the controls (P = 0.006).Patients with and without PCO undergoing IVF have comparablepregnancy and livebirth rates. However, it is important to diagnosePCO before ovarian stimulation is initiated as these patientsare more likely to develop moderate or severe OHSS following1VFET. 相似文献
146.
Megan E. Rech John M. McCarthy Chun‐An Chen Jane C. Edmond Veeral S. Shah Daniëlle G. M. Bosch Gerard T. Berry Linford Williams Suneeta Madan‐Khetarpal Dmitriy Niyazov Charles Shaw‐Smith Erin M. Kovar Philip J. Lupo Christian P. Schaaf 《American journal of medical genetics. Part A》2020,182(6):1426-1437
Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in‐frame deletions in the DNA‐binding domain (DBD), and 32 individuals with other types of variants including whole‐gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long‐term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype–phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants. 相似文献
147.
Doussard-Roosevelt JA Joe CM Bazhenova OV Porges SW 《Development and psychopathology》2003,15(2):277-295
The nature of mother-child interaction in autism and the maternal approach characteristics that elicit social response in children with autism were examined in two studies. Mother-child play sessions of 24 preschool children with autism and 24 typically developing preschoolers were compared in Study 1, and play sessions of 9 mothers with their autistic child and with their nonautistic child were compared in Study 2. Mother-child interactions were coded using the Approach Withdrawal Interaction Coding System to quantify maternal approach behaviors and child responses. Results of Study 1 indicate that, although the quantity of approaches did not differ between mothers with their autistic children and mothers with their nonautistic children, there were qualitative differences. Mothers used more physical contact, more high-intensity behaviors, and fewer social verbal approaches with autistic children. Results of Study 2 replicated these findings with mothers showing a similar pattern of approach toward their autistic children but not their nonautistic children. Although autistic children displayed lower contingency to maternal approaches in general, they showed greater responsiveness to approaches involving increased physical proximity and/or containing nonverbal object use. Mothers socially engaged both autistic and nonautistic children. The implications for parent training and intervention are discussed. 相似文献
148.
We contrast naming from pictures, and reading words, for objects and verbs (actions relating to the objects) in a patient with a large, posterior left-hemisphere lesion. We present evidence for spared picture naming for verbs relative to objects, whilst the opposite pattern of sparing occurred in reading. Objects were also spared relative to verbs in tasks requiring that written words be matched to either pictures or auditory words, in the presence of semantically related or unrelated distractors. We conclude that verb semantics were more impaired than semantic knowledge for objects, and that the better semantic knowledge for object names supported word reading. With pictures, however, action verb retrieval was maintained through a nonsemantic route from vision to action, or though preserved right-hemisphere "action semantics." 相似文献
149.
150.
Infusion of genetically modified dendritic cells (DC) expressing immunosuppressive molecules is a potential therapy for organ rejection. IL-12p70, a cytokine produced mainly by DC and macrophages, consists of two subunits, p40 and p35. IL-12p70 is an activator of T cells, while the IL-12p40 subunit serves as a natural antagonist for IL-12p70 action. The primary aim of this study was to evaluate the effect of IL-12p40 gene-modification on both the T-cell stimulatory activity of immature DC (imDC) and their ability to prolong cardiac allograft survival. IL-12p40 gene-modified imDC (DC-p40) exhibited a phenotype characteristic of imDC and displayed impaired T-cell allostimulatory ability in vitro. However, to our surprise, for murine vascularized heterotopic heart transplantation (HHT), administration of donor-derived DC-p40 7 days prior to transplantation did not prolong allograft survival but instead significantly exacerbated cardiac allograft rejection. Further study showed that DC-p40 augmented NK cell activity both in vitro and in vivo and enhanced interferon-gamma (IFN-gamma) production in vivo, which might be due to the increased IL-23 production by DC-p40. Our data suggested that although IL-12p40 gene-modified immature DC can induce T cell hyporesponsiveness in vitro, their ability to activate NK cells and induce IFN-gamma production counterbalances this, exacerbating cardiac allograft rejection. The unexpected effects of DC-p40 limit their value in promoting allograft survival in vivo and likely reflect the complexity of IL-12p40 biology. 相似文献