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Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome) 总被引:2,自引:0,他引:2
A 31-year-old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings suggest the diagnosis of Lelis syndrome, as described on the basis of seven unrelated cases. A review concerning this condition is also presented. 相似文献
24.
Ludewig K Ludewig S Seitz A Obrist M Geyer MA Vollenweider FX 《Biological psychology》2003,63(3):311-323
The acoustic startle reflex and its modulation by prepulse inhibition (PPI) and habituation are used in many studies in different fields of neuropsychiatric research. The aim of this study was to examine the effects of age and gender on PPI, startle magnitude, and habituation in healthy human volunteers. Twenty-seven male and 28 female participants of four different age groups (range: 20-60 years) were investigated in an acoustic startle paradigm using a startle stimulus of 115 dB and a prepulse of 86 dB (16 dB over the white noise background) with five different lead intervals (30, 60, 120, 240, and 2000 ms). Seventeen males and 16 female participants were tested three times at monthly intervals. Aged participants showed significantly lower startle magnitude and significantly more habituation than younger participants, but there was no effect of age on PPI or prepulse facilitation. Moreover, there were no effects of gender on startle magnitude, PPI, prepulse facilitation, or habituation measures. Healthy males and females exhibited stable startle magnitudes and PPI across sessions. The results demonstrated that PPI and startle are reliable measures of sensory information processing in both genders and that startle magnitude and habituation are age-dependent measures. 相似文献
25.
Antonia D'Errico Walter F. Grigioni Michelangelo Fiorentino Paola Baccarinl Eugene Lamas Stella De Mitri Giuseppe Gozzetti Antonio M. Mancini Christian Brechot 《Pathology international》1994,44(2):131-137
Recent results obtained using molecular biology techniques have suggested a possible role for insulin-like growth factor II (IGF-II) in the pathogenesis of hepatocellular carcinoma (HCC). To investigate this phenomenon, a monoclonal anti-body was used against IGF-II to study 54 patients with HCC. The presence of HBsAg was also tested both in serum and liver tissue. A positive immunoreaction was found in 9/15 (60%) of the HCC arising in cirrhotic livers of patients who had serum markers for HBV (HBV+ positive patients). These results provide further evidence that HBV might play a role in the expression of IGF-II. In HCC of patients without any markers of HBV infection (HBV- negative patients), IGF–II was detected in 10/39 (25.6%) of the tumors, and in some benign neoplastic lesions. It was found not only in neoplastic cells but also in some dysplastic nodules. The speculation arises that IGF–II expression may play a role in some steps of hepato-carcinogenesis. 相似文献
26.
Rocha-Rodrigues DB Paschoini G Pereira SA dos Reis MA Teixeira Vde P Rodrigues Júnior V 《Clinical and diagnostic laboratory immunology》2003,10(5):741-743
Endemic pemphigus foliaceus (EPF) is an autoimmune disease characterized by blister formation with a loss of cohesion and infiltration of inflammatory cells. We observed that supernatants of peripheral blood mononuclear cells from patients produced significantly more interleukin-1beta (IL-1beta) than those from stimulated healthy controls. Furthermore, a Th2 bias was observed in EPF patients when the IL-5/gamma interferon ratio was analyzed. These results indicate that cells from pemphigus patients react with a vigorous proinflammatory response. 相似文献
27.
Genomic allelotyping for distinction of recurrent and de novo hepatocellular carcinoma after orthotopic liver transplantation. 总被引:2,自引:0,他引:2
Annalisa Altimari Elisa Gruppioni Michelangelo Fiorentino Rosella Petraroli Antonio Daniele Pinna Kyriakoula Petropulacos Lorenza Ridolfi Alessandro Nanni Costa Walter Franco Grigioni Antonia D'Errico Grigioni 《Diagnostic molecular pathology》2005,14(1):34-38
Distinction between recurrent and de novo hepatocellular carcinoma (HCC) after orthotopic liver transplantation (OLT) bears important clinical and therapeutic implications. Techniques for molecular profiling of clinically suspected de novo and recurrent HCC are required since the histological/clinical discrimination of donor vs. recipient tumor origin is difficult. Multiple PCR amplification of 16 highly polymorphic short tandem repeat (STR) DNA sequences (routinely used for paternity and forensic assays) was applied in two patients who developed a second HCC after OLT. In both patients the technique provided reliable evidence that the two second HCC were recurrences of the primary tumor. Multiple STR genetic allelotyping is an effective tool for clear-cut discrimination of donor/recipient origin of a second HCC after OLT. Its application could be of great therapeutic relevance for such OLT patients. 相似文献
28.
Marius Schwabenland Henrike Salié Jovan Tanevski Saskia Killmer Marilyn Salvat Lago Alexandra Emilia Schlaak Lena Mayer Jakob Matschke Klaus Püschel Antonia Fitzek Benjamin Ondruschka Henrik E. Mei Tobias Boettler Christoph Neumann-Haefelin Maike Hofmann Angele Breithaupt Nafiye Genc Christine Stadelmann Bertram Bengsch 《Immunity》2021,54(7):1594-1610.e11
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29.
Wade NA Zielinski MA Butsashvili M McNutt LA Warren BL Glaros R Cheku B Pulver W Pass K Fox K Novello AC Birkhead GS 《Journal of acquired immune deficiency syndromes (1999)》2004,36(5):1075-1082
BACKGROUND: Perinatal HIV transmission has declined significantly in New York State (NYS) since implementation of a 3-part regimen of zidovudine prophylaxis in the antenatal, intrapartum, and newborn periods. This study describes the factors associated with perinatal transmission in NYS from 1997 to 2000, the first 4 years of NYS's comprehensive program in which all HIV-exposed newborns were identified through universal HIV testing of newborns. METHODS: This population-based observational study included all HIV-exposed newborns whose infection status was known and their mothers identified in NYS through the universal Newborn HIV Screening Program (NSP) from February 1997 to December 2000. Antepartum, intrapartum, newborn, and pediatric medical records of HIV-positive mothers/infants were reviewed for history of prenatal care, antiretroviral therapy (ART), and infant infection status. Risks associated with perinatal HIV transmission were examined. RESULTS: Perinatal HIV transmission declined significantly from 11.0% in 1997 to 3.7% in 2000 (P < 0.05). Prenatal ART was associated with a decline in perinatal HIV transmission both for monotherapy (5.8%, relative risk [RR] = 0.3, 95% confidence interval: 0.2%-0.5%) and combination therapy [2.4%, RR = 0.1, 95% confidence interval: 0.1%-0.2%) compared with no prenatal antiretroviral prophylaxis (P < 0.05). CONCLUSIONS: Public health policies to improve access to care for pregnant women and advances in clinical care, including receipt of appropriate preventive therapies, have contributed to declines in perinatal HIV transmission in NYS. 相似文献
30.
Pietro Antonuccio Herbert Ryan Marini Antonio Micali Carmelo Romeo Roberta Granese Annalisa Retto Antonia Martino Salvatore Benvenga Salvatore Cuzzocrea Daniela Impellizzeri Rosanna Di Paola Roberta Fusco Raimondo Maximilian Cervellione Letteria Minutoli 《Nutrients》2021,13(3)
Varicocele is an age-related disease with no current medical treatments positively impacting infertility. Toll-like receptor 4 (TLR4) expression is present in normal testis with an involvement in the immunological reactions. The role of peroxisome proliferator-activated receptor-α (PPAR-α), a nuclear receptor, in fertility is still unclear. N-Palmitoylethanolamide (PEA), an emerging nutraceutical compound present in plants and animal foods, is an endogenous PPAR-α agonist with well-demonstrated anti-inflammatory and analgesics characteristics. In this model of mice varicocele, PPAR-α and TLR4 receptors’ roles were investigated through the administration of ultra-micronized PEA (PEA-um). Male wild-type (WT), PPAR-α knockout (KO), and TLR4 KO mice were used. A group underwent sham operation and administration of vehicle or PEA-um (10 mg/kg i.p.) for 21 days. Another group (WT, PPAR-α KO, and TLR4 KO) underwent surgical varicocele and was treated with vehicle or PEA-um (10 mg/kg i.p.) for 21 days. At the end of treatments, all animals were euthanized. Both operated and contralateral testes were processed for histological and morphometric assessment, for PPAR-α, TLR4, occludin, and claudin-11 immunohistochemistry and for PPAR-α, TLR4, transforming growth factor-beta3 (TGF-β3), phospho-extracellular signal-Regulated-Kinase (p-ERK) 1/2, and nucleotide-binding oligomerization domain-like receptor (NLR) family pyrin domain-containing 3 (NLRP3) Western blot analysis. Collectively, our data showed that administration of PEA-um revealed a key role of PPAR-α and TLR4 in varicocele pathophysiology, unmasking new nutraceutical therapeutic targets for future varicocele research and supporting surgical management of male infertility. 相似文献