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Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum

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International Journal of Dermatology and Venereology 2020年第2期3卷 91-96页

作者： Zhao Jing-Yi Kingman Joshua Jacobs Ida Joely uitto jouni Cao Yi Li Qiao-Li Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical Collegeand the PXE International Center of Excellence in Research and Clinical CareThomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Dermatology The First Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhouZhejiang 310006China Jefferson Institute of Molecular Medicine Thomas Jefferson UniversityPhiladelphiaPA 19107USA

Objective:Pseudoxanthoma elasticum(PXE)is a multisystem heritable disorder caused by mutations in the Abcc6 *** disease is characterized by ectopic mineralization of the skin,eyes,and arterial blood *** studies have suggested that cardiovascular complications in patients with PXE are caused in part by premature *** aim of this study is to determine the effect of an atherogenic diet on ectopic ***:We used Abcc6^(tm1JfK)mice(Abcc6^(-/-)mice)as an established preclinical model of *** offspring at age of 4 weeks were divided into two groups and fed the standard control laboratory diet(control group)and the atherogenic *** lipid profiles and bile acids were measured,and steatosis and tissue mineralization were evaluated by histopathologic analysis and chemical calcium quantification assay,***:After 50-58 weeks of feeding an atherogenic diet,the concentrations of total cholesterol,low-density lipoprotein/very-low-density lipoprotein cholesterol,and bile acids were significantly higher in the Abcc6^(-/-)mice on the atherogenic diet(180.9±14.8 g/L,145.9±12.9 g/L,and 9.7±1.4μmol/L,respectively)than in Abcc6^(-/-)mice on a control diet(85.2±4.8 g/L,25.1±5.5 g/L,and 3.3±0.5μmol/L,respectively)(P<0.001).Hypercholesterolemia was accompanied by extensive lipid accumulation in the liver and aorta,a characteristic feature of *** direct calcium assay demonstrated significantly increased mineralization of the muzzle skin containing the dermal sheath of vibrissae(57.2±4.4μmol Ca/gram tissue on the atherogenic diet and 43.9±2.2μmol Ca/gram tissue on control diet;P<0.01),a reproducible biomarker of the ectopic mineralization process in these *** increased frequency of mineralization was also observed in the kidneys and eyes of mice on the atherogenic diet(P<0.01).Conclusion:These observations suggest that the atherogenic diet caused hypercholesterolemia and accelerated ectopic mineralization i

关键词： pseudoxanthoma elasticum ectopic mineralization atherogenesis mouse model

Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

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International Journal of Dermatology and Venereology 2021年第2期4卷 82-85页

作者： Sirous Zeinali Leila Youssefian Hassan Vahidnezhad Amir Hossein Saeidian Soheila Sotoudeh Hamideh Bagherian jouni uitto Department of Molecular Medicine Biotechnology Research CenterPasteur Institute of IranTehranIran Kawsar Human Genetics Research Center TehranIran Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical Collegeand Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Medical Genetics School of MedicineTehran University of Medical SciencesTehranIran Department of Dermatology Children’s Medical CenterCenter of ExcellenceTehran University of Medical SciencesTehranIran

Objective:Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different *** conventional mutation detection strategy consists of sequencing of individual candidate genes separately,a time consuming and costly *** this study,we perform genome-wide single nucleotide polymorphism(SNP)array to identify candidate genes of hereditary ***:A consanguineous family with two patients with hereditary hypotrichosis was enrolled,and autozygosity mapping by genome-wide SNP array was utilized to identify candidate ***:Autozygosity mapping delineated runs of homozygosity,and alignment of the 11 genes identified the hairless(HR)gene as the candidate *** sequencing revealed a novel homozygous mutation c.381delT,***:This study illustrates how autozygosity mapping by a high-density SNP array streamlines mutation detection in heritable skin diseases.

关键词： familial hypotrichosis hair loss homozygosity mapping mutation detection hairless gene mutations

Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

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International Journal of Dermatology and Venereology 2020年第4期3卷 198-204页

作者： Ralph Douglas Allawh Rina Terry Ian F. Terry Sharon F. uitto jouni Li Qiao-Li Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical Collegeand The PXE International Center of Excellence in Research and Clinical CareThomas Jefferson UniversityPhiladelphiaPA 19107USA PXE International Inc.WashingtonDC 20008USA Jefferson Institute of Molecular Medicine Thomas Jefferson UniversityPhiladelphiaPA 19107USA

Objective:Pseudoxanthoma elasticum(PXE)is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 *** PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin,eyes,and cardiovascular system,kidney stones were reported in some individuals with *** aim of this study is to determine whether kidney stones are an incidental finding or a frequent manifestation of ***:We first investigated the genetic basis of two siblings diagnosed with *** younger patient presented with recurrent kidney stones since 8 years ***,to address whether kidney stones are associated with PXE,the prevalence of kidney stones in a survey cohort of 563 respondents with PXE was compared to that of a general *** survey,National Health and Nutrition Examination Survey,with 28,629 ***:Genetic analysis in both patients identified compound heterozygous mutations in ABCC6,c.2787+1G>T,and c.3774_*** analysis of participants 20 years old and older revealed that 23.4%of PXE patients had previously had a kidney stone,a significant increase compared to 9.2%in the general population(P<0.01).In addition,17.8%of PXE patients reported their first kidney stone episode before age of 18 years ***:PXE correlates with an increased risk of developing kidney stones with considerable morbidity and health-care cost.

关键词： ectopic mineralization kidney stones pseudoxanthoma elasticum

The Power of Molecular Genetics in Understanding Heritable Skin Disorders: Introduction to the Special Theme on Genodermatosis

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International Journal of Dermatology and Venereology 2021年第2期4卷 65-66页

作者： Qiaoli Li Yong Yang jouni uitto Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical Collegeand Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaPA 19107USA Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Hospital for Skin Diseases(Institute of Dermatology)Chinese Academy of Medical Science and Peking Union Medical CollegeNanjingJiangsu 210042China

Among the over 7,000 heritable disorders,at least 1,000 of them have cutaneous *** of these conditions are exclusively limited to the skin,thus being non-syndromic,while some of them are associated with a number of extracutaneous manifestations,that is,they are syndromic,with protean *** conditions,heritable skin diseases,display a tremendous collection of phenotypes as well as a broad spectrum of severity and the overall *** most severe forms,some of these conditions are lethal at the early stages of life,while at the other end of the spectrum they may present with a relatively minor skin involvement primarily of cosmetic concern,with no effect on the longevity of the affected *** the plethora of clinical manifestations,frequently with overlapping clinical features and complex classification schemes often riddled with eponyms,the heritable skin disorders frequently pose a diagnostic challenge for practicing dermatologists.

关键词： involvement Skin primarily

Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy

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International Journal of Dermatology and Venereology 2021年第2期4卷 70-75页

作者： Bahar Dasgeb Leila Youssefian Amir Hossein Saeidian Jun Kang Wenyin Shi Elizabeth Shoenberg Adam Ertel Paolo Fortina Hassan Vahidnezhad jouni uitto Department of Surgical Oncology Rutgers Cancer Institute of New JerseyNew BrunswickNJ 08903USA Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical Collegeand Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaPA 19107USA Genetics Genomics and Cancer Biology PhD ProgramThomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Radiation Oncology Thomas Jefferson UniversityPhiladelphiaPAUSA Department of Internal Medicine Mercy Medical CenterBaltimoreMD 21202USA Department of Cancer Biology Sidney Kimmel Cancer CenterThomas Jefferson UniversityPhiladelphiaPA 19107USA

Objective:Well-defined germ-line mutations in thePTCH1 gene are associated with syndromic multiple basal cell carcinomas(BCCs).Here,we used whole exome sequencing(WES)to identify the role of patched-1 in patients with multiple,unusually large ***:A 72-year old patient presenting with numerous BCCs progressing to large ulcerating lesions was *** was used to identify the pathogenic gene ***:Genetic work-up by WES identified a homozygousPTCH1 nonsense mutation in the tumor tissue but not present in her blood cells or in non-lesional *** addition,heterozygous missense mutations were identified in three cancer-associated genes(EPHB2,RET,andGALNT12)in blood cells as well as in lesional and non-lesional *** also tested systemic immune therapy as a potentially beneficial approach to treat patients with numerous large BCCs on scatted areas of involvement.A rapid and sustained response to nivolumab was noted,suggesting that it is an efficacious drug for long-term therapeutic ***:PTCH1,EPHB2,RET,andGALNT12 may potentially contribute to the synergistic oncogene driven malignant transformation manifesting as multiple,unusually large BCCs.

关键词： immune therapy malignant transformation gene-susceptibility non-syndromic basal cell carcinoma PTCH1 skin neoplasms

Dynamics and Emerging Trends in Genodermatology: A Scientometric Analysis

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International Journal of Dermatology and Venereology 2021年第2期4卷 67-69页

作者： Jin Bu Liang-Jia Zhou jouni uitto Qiaoli Li Hospital for Skin Diseases(Institute of Dermatology) Chinese Academy of Medical Sciences and Peking Union Medical CollegeNanjingJiangsu 210042China Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical Collegeand Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaPA 19107USA

With the improved power and precision with genome sequencing,the body of relevant literature on genodermatology has grown rapidly in recent *** this study,we used CiteSpace,a scientometric software,to delineate the structure and dynamics of genodermatology and to further understand the emerging trends in this *** integrates individual citations and forms a cocitation network that demonstrates the evolution of a scientific field over *** reference cited by multiple articles is represented by a node in the *** size of a node indicates how many times the reference has been *** nature of the connectivity between the nodes represents a dual relationship between the cited references and their citing articles.

关键词： has CiteSpace integrate

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弹性假黄瘤

江西医药 1987年第5期 499-500页

作者： jouni uitto

弹性假黄瘤(PXE)又名Grōnblad-Stran-dberg氏综合征,系统性弹性组织破裂,为一主要累及弹性纤维的全身性进行性结缔组织病.临床上以皮肤损害、眼的改变和广泛性血管异常为典型改变.临床表现不一,就是由于这些改变的轻重不一而来的.起... 详细信息

弹性假黄瘤(PXE)又名Grōnblad-Stran-dberg氏综合征,系统性弹性组织破裂,为一主要累及弹性纤维的全身性进行性结缔组织病.临床上以皮肤损害、眼的改变和广泛性血管异常为典型改变.临床表现不一,就是由于这些改变的轻重不一而来的.起病可在儿童早期,皮肤损害大多在30岁出现.PXE的确切患病率尚未得悉,估计160,000人中约有1例.男女发病机率相等.

关键词：弹性假黄瘤结缔组织病弹性纤维弹性蛋白血管样条纹 Paget 葡糖胺聚糖微黄色遗传咨询形态学改变

含二硫化硒洗发水对中-重度头皮脂溢性皮炎外用糖皮质激素/水杨酸治疗后的疗效维持作用

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中华皮肤科杂志 2024年第5期57卷 483-484页

作者： Philippe Massiot Pascal Reygagne Corinne Chagnoleau Leila Kanoun-Copy Florence Pouradier Geneviève Loussouarn Catherine Queille-Roussel Hussein jouni Delphine Kerob L'Oréal Research and Innovation Saint-Ouen France. Centre Sabouraud Hôpital Saint-Louis 1 avenue Claude-Vellefaux 75010 Paris France. CPCAD Hôpital l'Archet Nice France. L'Oréal Research and Innovation Aulnay-sous-Bois France. Cosmetic Active International Levallois-Perret France.

脂溢性皮炎是一种慢性炎症性皮肤病,好发于头皮、面部和躯干等皮脂腺分布丰富的部位。头皮脂溢性皮炎主要表现为红斑和片状鳞屑,程度从轻度鳞屑到弥漫性大片黏着性鳞屑不等,伴有明显的瘙痒,并容易反复发作。目前认为脂溢性皮炎的发生与... 详细信息

脂溢性皮炎是一种慢性炎症性皮肤病,好发于头皮、面部和躯干等皮脂腺分布丰富的部位。头皮脂溢性皮炎主要表现为红斑和片状鳞屑,程度从轻度鳞屑到弥漫性大片黏着性鳞屑不等,伴有明显的瘙痒,并容易反复发作。目前认为脂溢性皮炎的发生与亲脂性马拉色菌定植增加以及遗传、环境和全身健康状况等因素相关,上述因素共同导致皮脂腺代谢活动异常、皮脂成分改变、表皮屏障功能障碍,最终加重炎症反应。

关键词：头皮脂溢性皮炎二硫化硒洗发水亲脂性炎症反应马拉色菌皮脂腺黏着性

Finite Degree Holomorphic Covers of Compact Riemann Surfaces

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Acta Mathematica Sinica,English Series 2007年第1期23卷 89-94页

作者： jouni PARKKONEN Vesa RUUSKA Department of Mathematics and Statistics P.O.Box 35 40014 University of JyvskylFinland Department of Physics P.O.Box 3540014 University of JyvskylFinland

A conjecture of Ehrenpreis states that any two compact Riemann surfaces of genus at least two have finite degree unbranched holomorphic covers that are arbitrarily close to each other in moduli space. Here we prove a weaker result where certain branched covers associated with arithmetic Riemann surfaces are allowed, and investigate the connection of our result with the original conjecture.

关键词： Riemann surfaces covering maps quasiconformal maps