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Katheryn A. Bell BA Karl M. Saardi MD Scott A. Norton MD MPH Kaiane A. Habeshian MD 《Pediatric dermatology》2020,37(5):922-924
We describe two American-born children with vitiligo, each of whom travelled to their family's ancestral home (India and Ethiopia), where their skin conditions were treated with PUVAsol, which involves the use of topical or oral psoralens followed by exposure to natural sunlight. Both children experienced modest repigmentation and were subsequently seen in our dermatology clinics. PUVAsol may be an attractive treatment option for some families, but there are potentially serious side effects including phototoxicity and cutaneous malignancy. Dermatologists should be aware of the existence of this treatment modality as well as its complications. 相似文献
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Dana K. Townsend Katheryn McGregor Esther Wu Kathryn Cialkowski Mark D. Haub Thomas J. Barstow 《Diabetes & Metabolic Syndrome: Clinical Research & Reviews》2018,12(5):609-616
Aims
The goal of this study was to determine insulin sensitivity in a fasted state and during an oral glucose tolerance test (OGTT), in normoglycemic (NGT), lean (L) (n?=?35) and, for comparison, overweight/obese (OW/O) (n?=?9) college-aged subjects.Materials and Methods
Insulin sensitivity for 44 NGT, normotensive subjects, age 18–26 yrs., was determined by homeostasis model assessment (HOMA-IR) and from Matsuda index (ISI Matsuda).Results
Subjects were normoglycemic fasted (4.59?+?0.35?mmol/L) and at two hours post OGTT (4.52? +?1.35?mmol/L). Besides anthropometric measures, there were significant differences between OW/O and L for fasting insulin (P?<?0.001) and both measures of insulin sensitivity (P?<?0.05). All subjects exhibited a 9-fold range in HOMA-IR (0.88?+?0.51, range 0.3–2.7) and an 8-fold range in ISI Matsuda (11.9?+?4.7, range 3.0–24.2). The latter was inversely correlated with systolic blood pressure (r?=?0.35, P?=?0.04) even though subjects were normotensive. In lean subjects, 2.3% were IR by HOMA-IR?>?2.1, 5.7% by ISI Matsuda?<?5.9, and 22.9% had >one criteria for metabolic syndrome (MetS); 28.6% had some negative metabolic biomarker.Conclusions
Insulin resistance is present in lean, NGT college-age subjects even without MetS criteria and is discernable with an easily applicable OGTT-derived index. 相似文献16.
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Functional proteomic analysis of melanoma progression 总被引:6,自引:0,他引:6
Bernard K Litman E Fitzpatrick JL Shellman YG Argast G Polvinen K Everett AD Fukasawa K Norris DA Ahn NG Resing KA 《Cancer research》2003,63(20):6716-6725
Functional proteomics provides a powerful approach to screen for alterations in protein expression and posttranslational modifications under conditions of human disease. In this study, we use protein screening to examine markers of melanoma progression, by profiling melanocyte versus melanoma cell lines using two-dimensional electrophoresis and mass spectrometry. Eight candidate markers were identified as differentially regulated in transformed cells. In particular, hepatoma-derived growth factor (HDGF) and nucleophosmin B23 were strongly correlated with melanoma. Nucleophosmin B23 is a nucleolar and centrosome-associated protein, which has been implicated as a target for cyclin E/cyclin-dependent kinase 2 (CDK2) in modulating centrosome duplication and cell cycle control. Western blotting of one-dimensional and two-dimensional gels showed that the form of nucleophosmin B23 that is up-regulated in melanoma represents a posttranslationally modified form, most likely reflecting enhanced phosphorylation in the tumor-derived cells. In contrast, Western analysis of HDGF demonstrated increased expression of all forms in melanoma cell lines compared with melanocytes. Immunohistochemical analysis of human tissue biopsies showed strong expression of HDGF in early and late stage melanomas and low expression in melanocytes and nontumorigenic nevi. Interestingly, biopsies of nevi showed a graded effect in which HDGF immunoreactivity was reduced in nevoid nests penetrating deep into the dermis compared with nests at the epidermal-dermal junction, suggesting that HDGF expression in nevi is dependent on epidermal cell interactions. In contrast, biopsies of melanoma showed strong expression of HDGF throughout the tumor, including cells located deeply within dermis. Thus, expression of this antigen likely reports a reduced dependence of protein expression on epidermal interactions. 相似文献
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Shanlee Davis Meredith A. Ware Jordan Zeiger Matthew A. Deardorff Katheryn Grand Adda Grimberg Stephanie Hsu Megan Kelsey Shideh Majidi Revi P. Matthew Melanie Napier Natalie Nokoff Chitra Prasad Andrew C. Riggs Margaret L. McKinnon Ghayda Mirzaa 《American journal of medical genetics. Part A》2020,182(1):162-168
Megalencephaly‐capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K‐AKT–MTOR pathway (PIK3CA). Cases of growth failure and hypoglycemia have been reported in patients with MCAP, raising the suspicion for unappreciated growth hormone (GH) deficiency. Here we report an observational multicenter study of children with MCAP and GH deficiency. Eleven participants were confirmed to have GH deficiency, all with very low or undetectable circulating concentrations of insulin‐like growth factor‐1 and insulin‐like growth factor binding protein‐3. Seven underwent GH stimulation testing and all had insufficient responses with a median GH peak of 3.7 ng/ml (range 1.1–8.6). Growth patterns revealed a drastic decline in length z‐scores within the first year of life but then stabilized afterward. Five were treated with GH; one discontinued due to inconsolability. The other four participants continued on GH with improvement in linear growth velocity. Other endocrinopathies were identified in 7 of the 11 participants in this cohort. This study indicates that GH deficiency is associated with MCAP and that children with MCAP and hypoglycemia and/or postnatal growth failure should be evaluated for GH deficiency and other endocrinopathies. 相似文献