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Sample records for dyschromatosis universalis hereditaria

  1. Dyschromatosis universalis hereditaria in an African American male.

    PubMed

    Reddy, Shruthi Geedipalley; Worobec, Sophie Marie

    2011-08-15

    Dyschromatosis universalis hereditaria (DUH) is a very rare genodermatosis characterized by generalized skin dyspigmentation. It is most common in Japan, but has also been reported in other parts of Asia, Europe, South America, and Africa. We report a case of a 44-year-old man born and raised in North America who presented with total skin discoloration since birth.

  2. Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

    PubMed

    Cui, Ying-Xia; Xia, Xin-Yi; Zhou, Yang; Gao, Lin; Shang, Xue-Jun; Ni, Tong; Wang, Wei-Ping; Fan, Xiao-Buo; Yin, Hong-Lin; Jiang, Shao-Jun; Yao, Bing; Hu, Yu-An; Wang, Gang; Li, Xiao-Jun

    2013-01-01

    Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of autosomal dominant DUH and 3 unrelated patients with sporadic DUH. Skin tissues were obtained from the proband, of this family and the 3 sporadic patients. Histopathological examination and immunohistochemical analysis of ABCB6 were performed. Peripheral blood DNA samples were obtained from 21 affected, 14 unaffected, 11 spouses in the family and the 3 sporadic patients. A genome-wide linkage scan for the family was carried out to localize the causative gene. Exome sequencing was performed from 3 affected and 1 unaffected in the family. Sanger sequencing of ABCB6 was further used to identify the causative gene for all samples obtained from available family members, the 3 sporadic patients and a panel of 455 ethnically-matched normal Chinese individuals. Histopathological analysis showed melanocytes in normal control's skin tissue and the hyperpigmented area contained more melanized, mature melanosomes than those within the hypopigmented areas. Empty immature melanosomes were found in the hypopigmented melanocytes. Parametric multipoint linkage analysis produced a HLOD score of 4.68, with markers on chromosome 2q35-q37.2. A missense mutation (c.1663 C>A, p.Gln555Lys) in ABCB6 was identified in this family by exome and Sanger sequencing. The mutation perfectly cosegregated with the skin phenotype. An additional mutation (g.776 delC, c.459 delC) in ABCB6 was found in an unrelated sporadic patient. No mutation in ABCB6 was discovered in the other two sporadic patients. Neither of the two mutations was present in the 455 controls. Melanocytes showed positive immunoreactivity to ABCB6. Our data add new variants to the repertoire of ABCB6 mutations with DUH.

  3. Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

    PubMed Central

    Wang, Na; Wang, Chuan; Chen, Xuechao; Sheng, Donglai; Fu, Xi’an; See, Kelvin; Foo, Jia Nee; Low, Huiqi; Liany, Herty; Irwan, Ishak Darryl; Liu, Jian; Yang, Baoqi; Chen, Mingfei; Yu, Yongxiang; Yu, Gongqi; Niu, Guiye; You, Jiabao; Zhou, Yan; Ma, Shanshan; Wang, Ting; Yan, Xiaoxiao; Goh, Boon Kee; Common, John E. A.; Lane, Birgitte E.; Sun, Yonghu; Zhou, Guizhi; Lu, Xianmei; Wang, Zhenhua; Tian, Hongqing; Cao, Yuanhua; Chen, Shumin; Liu, Qiji; Liu, Jianjun; Zhang, Furen

    2014-01-01

    Background As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. Methodology We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a multiplex Chinese DUH family to identify the pathogenic mutations and verified the candidate mutations using Sanger sequencing. Quantitative RT-PCR and Immunohistochemistry was performed to verify the expression of the pathogenic gene, Zebrafish was also used to confirm the functional role of ABCB6 in melanocytes and pigmentation. Results Genome-wide linkage (assuming autosomal dominant inheritance mode) and exome sequencing analyses identified ABCB6 as the disease candidate gene by discovering a coding mutation (c.1358C>T; p.Ala453Val) that co-segregates with the disease phenotype. Further mutation analysis of ABCB6 in four other DUH families and two sporadic cases by Sanger sequencing confirmed the mutation (c.1358C>T; p.Ala453Val) and discovered a second, co-segregating coding mutation (c.964A>C; p.Ser322Lys) in one of the four families. Both mutations were heterozygous in DUH patients and not present in the 1000 Genome Project and dbSNP database as well as 1,516 unrelated Chinese healthy controls. Expression analysis in human skin and mutagenesis interrogation in zebrafish confirmed the functional role of ABCB6 in melanocytes and pigmentation. Given the involvement of ABCB6 mutations in coloboma, we performed ophthalmological examination of the DUH carriers of ABCB6 mutations and found ocular abnormalities in them. Conclusion Our study has advanced our understanding of DUH pathogenesis and revealed the shared pathological mechanism between pigmentary DUH and ocular coloboma. PMID:24498303

  4. Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

    PubMed

    Zhang, G L; Shi, H J; Shao, M H; Li, M; Mu, H J; Gu, Y; Du, X F; Xie, P

    2013-01-04

    We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed. By direct sequencing, a 2-nucleotide AG deletion, 2099-2100delAG, was found in family 1, and a C→T mutation was identified at nucleotide 1420 that changed codon 474 from arginine to a translational termination codon in family 2. Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH. To date, a total of 110 mutations in the ADAR1 gene have been reported, and 10 of them were recurrent; the mutations R474X, R1083C, R1096X, and R1155W might be the DSH-related hotspots.

  5. Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA binding domain of ADAR1.

    PubMed

    Kono, M; Suganuma, M; Shimada, T; Ishikura, Y; Watanabe, S; Takeichi, T; Muro, Y; Akiyama, M

    2018-05-18

    Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disease caused by a heterozygous mutation of ADAR1. 1 DSH is characterized by a mixture of hyper- and hypo-pigmented small macules in the extremities. Among the mutations, the pathogenicity of in-frame deletion in regions other than the deaminase domain has not been clarified in DSH. 2 This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  6. Acquired Brachial Cutaneous Dyschromatosis in a Middle Aged Male

    PubMed Central

    Choi, Min Jung; Byun, Ji Yeon; Choi, Hae Young

    2018-01-01

    Acquired brachial cutaneous dyschromatosis (ABCD) is an acquired disorder of pigmentary change that presents as chronic, asymptomatic, geographic-shaped, gray-brown patches, consisting of mixed hyper and hypopigmented macules on the dorsal aspect of the forearms. We report a case of a 40-year-old male who presented with asymptomatic, multiple brown-colored macules on the outer aspects of both arms. He had no history of hypertension and had never taken angiotensin converting enzyme inhibitors. He also denied chronic sun exposure history. Histologic examination demonstrated epidermal atrophy, increased basal layer pigmentation, and several telangiectatic vessels in the upper dermis. Solar elastosis was not remarkable. The patient's clinical and histopathologic features were consistent with a diagnosis of ABCD. Poikiloderma of Civatte, melasma, acquired bilateral telangiectatic macules and other pigmentary disorders should be considered in the differential diagnosis of ABCD. Herein, we report a case of ABCD in a middle-aged male without hypertension and medication. PMID:29853750

  7. Alopecia areata universalis in a dog.

    PubMed

    Ginel, Pedro J; Blanco, Beatriz; Pérez-Aranda, María; Zafra, Rafael; Mozos, Elena

    2015-10-01

    Alopecia areata is a T-cell mediated autoimmune disease that occurs in humans and various other mammalian species. When the disease progresses to total alopecia it is defined as alopecia areata universalis (AAU), although this outcome has only been described in humans. To describe a case of canine alopecia areata universalis and its clinical outcome after 22 months of follow-up. A 9-year-old intact male cross-breed hunting dog was presented with generalized and complete noninflammatory alopecia of 12-14 months duration. Clinical examination; histopathological and immunohistochemical examination of skin biopsies. There was loss of all body hair including eyelashes and vibrissae. The histopathological and immunohistochemical findings supported a diagnosis of long-standing alopecia areata. Treatment with oral ciclosporin was associated with hair regrowth but muzzle hair, most eyelashes and whiskers were still lacking after 17 months of therapy. To the best of the author's knowledge this is the first documented case of canine AAU. The clinical and histopathological features were consistent with a diagnosis of AAU as defined in humans. Treatment with oral ciclosporin resulted in near complete resolution of the alopecia, but after 5 months without treatment the alopecia did not relapse and spontaneous resolution cannot be ruled out. © 2015 ESVD and ACVD.

  8. A case of adult dermatomyositis with calcinosis universalis.

    PubMed

    Jayanthi, Mohan Roop; Basher, Rajender Kumar; Bhadada, Sanjay Kumar; Bhattacharya, Anish; Mittal, Bhagwant Rai

    2014-10-01

    Calcinosis, although frequent in juvenile dermatomyositis is a rare finding in adults. It is more common in later phases of the disease, involving sites under chronic stress and trauma. We present a 52-year-old female patient of dermatomyositis who on single-photon emission computed tomography/computed tomography hybrid images showed exclusive subcutaneous fat calcinosis, also known as calcinosis universalis - a phenomenon that is only rarely reported in adult-onset dermatomyositis.

  9. A case of adult dermatomyositis with calcinosis universalis

    PubMed Central

    Jayanthi, Mohan Roop; Basher, Rajender Kumar; Bhadada, Sanjay Kumar; Bhattacharya, Anish; Mittal, Bhagwant Rai

    2014-01-01

    Calcinosis, although frequent in juvenile dermatomyositis is a rare finding in adults. It is more common in later phases of the disease, involving sites under chronic stress and trauma. We present a 52-year-old female patient of dermatomyositis who on single-photon emission computed tomography/computed tomography hybrid images showed exclusive subcutaneous fat calcinosis, also known as calcinosis universalis - a phenomenon that is only rarely reported in adult-onset dermatomyositis. PMID:25400376

  10. Alopecia universalis in a dog with testicular neoplasia.

    PubMed

    Outerbridge, Catherine A; White, Stephen D; Affolter, Verena K

    2016-12-01

    To describe a case of testicular neoplasia and alopecia universalis in a dog, and successful treatment of the latter with ciclosporin. Twelve-year-old intact male wirehaired fox terrier. Castration, skin biopsy for histopathology, lymphocyte immunophenotyping and clonality analysis of the canine T-cell receptor gamma locus (TCRγ) rearrangement. The dog presented with symmetrical generalized alopecia. Testicular enlargement was noted which on castration was determined to be caused by bilateral interstitial cell tumours, Sertoli cell tumours and a unilateral seminoma. During the four months after castration the alopecia became more severe and widespread. Histopathology of the skin showed moderate, multifocal, mural folliculitis, peribulbar mucinosis and lymphocytic bulbitis, and targeting of anagen hair follicles. Immunophenotyping of the infiltrate showed a population of well-differentiated, small CD3-positive T lymphocytes, some expressing CD4 and others CD8. Molecular analysis revealed a polyclonal lymphocytic infiltrate, substantiating the diagnosis of alopecia areata rather than lymphoma. Treatment with ciclosporin (4.6 mg/kg) and ketoconazole (4.6 mg/kg) resulted in complete hair regrowth. Ciclosporin treatment, in combination with ketoconazole, can be effective for treatment of alopecia universalis in the dog. Alopecia universalis may present with clinically noninflammatory, symmetrical, generalized alopecia, mimicking an endocrine alopecia, and skin biopsies are needed to confirm the diagnosis. © 2016 ESVD and ACVD.

  11. Case reports: alopecia universalis: hair growth following initiation of simvastatin and ezetimibe therapy.

    PubMed

    Robins, Douglas N

    2007-09-01

    Alopecia areata is an organ specific autoimmune disease in which hair is lost in various patterns. Its most extreme form, alopecia universalis, is the total loss of all scalp and body hair. This form of the condition is very resistant to treatment and spontaneous remission is quite rare. The following is a case of a 54-year-old male with longstanding alopecia universalis who began to grow dense hair on his scalp as well as patchy hair growth on his face, pubic and axillary areas one month after starting a course of simvastatin 40 mg and ezetimibe 10 mg daily prescribed for his hyperlipidemia. For 2 years prior to starting the combination drug, he had taken simvastatin 40 mg alone without evidence of any hair growth. The combination of simvastatin and ezetimibe has previously demonstrated synergistic immunomodulatory effects, which most likely accounts for the clinical response in this case.

  12. Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis.

    PubMed

    Tzellos, Thrasivoulos G; Tahmatzidis, Dimitrios K; Lallas, Aimilios; Apostolidou, Kiriaki; Goulis, Dimitrios G

    2009-01-01

    A 27-year-old male, who had developed diabetes mellitus type 1 (DMT1) since the age of eighteen and alopecia areata universalis nine months later, attended the outpatient clinics complaining of general fatigue and shortness of breath. A Schilling test was indicative of pernicious anemia. Antigastric parietal cell (AGPA) and anti-intrinsic factor antibodies were positive, confirming diagnosis of pernicious anemia. Thyroid and Addison's disease were excluded. Gastroscopy revealed atrophic gastritis without any evidence of carcinoid tumors. The aim of this case, which, to our knowledge, is the first one to describe a correlation between diabetes mellitus Type 1 (DMT1), pernicious anaemia, and alopecia areata universalis, is to remind the clinician of the increased risk of pernicious anaemia and gastric carcinoids in DMT1 patients. Screening for AGPA followed by serum gastrin and vitamin B(12) levels constitute the most evidence-based diagnostic approach.

  13. Depigmentation therapy in vitiligo universalis with topical 4-methoxyphenol and the Q-switched ruby laser.

    PubMed

    Njoo, M D; Vodegel, R M; Westerhof, W

    2000-05-01

    Monobenzylether of hydroquinone is used worldwide to remove residual pigment in patients with vitiligo universalis. Because of the side effects reported with this drug, the use of monobenzylether of hydroquinone has been restricted in The Netherlands. Our purpose was to evaluate the long-term effectiveness and safety of a combination therapy consisting of topical 4-methoxyphenol (4-MP) cream and Q-switched ruby (QSR) laser in 16 patients with vitiligo universalis. In a retrospective study, patient record forms were evaluated. Data were collected regarding history as well as physical and histologic examination. The patients came to the institute for a follow-up visit after a treatment-free period of 2 to 36 months. Thirteen patients received both therapies. Three patients only used the cream. None of the areas was treated by the cream and QSR laser at the same time. In 11 of the 16 patients (69%; 95% confidence interval [CI], 41%-89%) total depigmentation was achieved using the 4-MP cream. Onset of depigmentation was between 4 and 12 months. Four of the 5 patients who did not respond to the 4-MP cream had successful depigmentation with the QSR laser. Mild burning or itching was reported with the cream in 4 cases (25%). Of the 11 patients who responded to the 4-MP cream, 4 had recurrence of pigmentation (relapse rate of 36%; 95% CI, 11%-69%) after a treatment-free period of 2 to 36 months. In 9 of the 13 patients (69%; 95% CI, 39%-91%) total depigmentation was achieved after QSR laser therapy. Onset of depigmentation was between 7 and 14 days after the treatment. Three of the 4 unresponsive patients showed total depigmentation after application of the 4-MP cream. No side effects were observed. Of the 9 patients who responded to QSR laser therapy, 4 had recurrence of pigmentation (relapse rate of 44%; 95% CI, 14%-79%) after a treatment-free period of 2 to 18 months. These patients had a negative Koebner phenomenon. Depigmentation therapy using a 4-MP cream and/or QSR

  14. ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

    PubMed

    Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; H'mida-Ben Brahim, Dorra; Boussofara, Lobna; Dai, Liang; Wong, Pui Mun; Foo, Jia Nee; Sriha, Badreddine; Robinson, Kim Samirah; Denil, Simon; Common, John Ea; Mamaï, Ons; Ben Khalifa, Youcef; Bollen, Mathieu; Liu, Jianjun; Denguezli, Mohamed; Bonnard, Carine; Saad, Ali; Reversade, Bruno

    2018-02-01

    Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients. We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatomedin-B-like domains. Histological analysis revealed structural and molecular changes in affected skin that were likely to originate from defective melanocytes because keratinocytes do not express ENPP1. Consistently, RNA-sequencing analysis of patient-derived primary melanocytes revealed alterations in melanocyte development and in pigmentation signaling pathways. We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  15. p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation.

    PubMed

    Zhou, Ding'an; Kuang, Zhongshu; Zeng, Xing; Wang, Ke; Ma, Jiangshu; Luo, Huangchao; Chen, Mei; Li, Yan; Zeng, Jiawei; Li, Shu; Luan, Fujun; He, Yong; Dai, Hongying; Liu, Beizhong; Li, Hui; He, Lin; Xing, Qinghe

    2017-10-01

    We previously reported that three point mutations in SASH1 and mutated SASH1 promote melanocyte migration in dyschromatosis universalis hereditaria (DUH) and a novel p53/POMC/Gαs/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. However, the underlying mechanism of molecular regulation to cause this hyperpigmentation disorder still remains unclear. In this study, we aimed to investigate the molecular mechanism undergirding hyperpigmentation in the dyschromatosis disorder. Our results revealed that SASH1 binds with MAP2K2 and is induced by p53-POMC-MC1R signal cascade to enhance the phosphorylation level of ERK1/2 and CREB. Moreover, increase in phosphorylated ERK1/2 and CREB levels and melanogenesis-specific molecules is induced by mutated SASH1 alleles. Together, our results suggest that a novel SASH1/MAP2K2 crosstalk connects ERK1/2/CREB cascade with p53-POMC-MC1R cascade to cause hyperpigmentation phenotype of DUH. © 2017 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

  16. Reticulate Acropigmentation of Dohi: A Case Report with Insight into Genodermatoses with Mottled Pigmentation

    PubMed Central

    Mohana, Deepak; Verma, Ujjwala; Amar, Amarkant Jha; Choudhary, R K P

    2012-01-01

    Reticulate acropigmentation of Dohi also called dyschromatosis symmetrica hereditaria or symmetrical dyschromatosis of the extremities is an autosomal dominant inherited disorder. It is characterized by mottled pigmentation with patchy depigmentation commonly over the back of the hands and feet and sometimes on the arms and legs PMID:22470208

  17. Reticulate acropigmentation of dohi: a case report with insight into genodermatoses with mottled pigmentation.

    PubMed

    Mohana, Deepak; Verma, Ujjwala; Amar, Amarkant Jha; Choudhary, R K P

    2012-01-01

    Reticulate acropigmentation of Dohi also called dyschromatosis symmetrica hereditaria or symmetrical dyschromatosis of the extremities is an autosomal dominant inherited disorder. It is characterized by mottled pigmentation with patchy depigmentation commonly over the back of the hands and feet and sometimes on the arms and legs.

  18. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.

    PubMed

    Finnigan, Daniel F; Hanna, W J Brad; Poma, Roberto; Bendall, Andrew J

    2007-01-01

    Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise. Myotonia can be inherited in an autosomal dominant or recessive manner (Thomsen- or Becker-type myotonia, respectively). In mice, goats, Miniature Schnauzer dogs, and most affected humans, the disorder is caused by mutations in CLCN1, which encodes the skeletal muscle voltage-gated chloride channel, Cl1C-1. We hypothesized that an Australian Cattle Dog with generalized muscle stiffness and hypertrophy examined at the Ontario Veterinary College would have a mutation in the CLCN1 gene. A pure-bred Australian Cattle Dog from Ontario, Canada, was used. Based on clinical signs and electromyographic test results, a diagnosis of myotonia hereditaria was made, and a muscle biopsy was collected for genetic analysis. Sequence data obtained from the affected dog confirmed that it was homozygous for a single base insertion in the CLCN1 coding sequence. This mutation would result in a truncated ClC-1 protein being expressed, which, based on molecular evidence from other studies, would result in functionally compromised chloride conduction in the skeletal muscles of the animal. To the authors' knowledge, this report describes the Ist case of myotonia in an Australian Cattle Dog and represents the 1st non-Schnauzer canine myotonia to be genetically characterized. In addition, we developed a polymerase chain reaction-based genetic screen to detect heterozygotes with this mutation in the at-large Australian Cattle Dog population.

  19. A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation.

    PubMed

    Zhou, Ding'an; Wei, Zhiyun; Kuang, Zhongshu; Luo, Huangchao; Ma, Jiangshu; Zeng, Xing; Wang, Ke; Liu, Beizhong; Gong, Fang; Wang, Jing; Lei, Shanchuan; Wang, Dongsheng; Zeng, Jiawei; Wang, Teng; He, Yong; Yuan, Yongqiang; Dai, Hongying; He, Lin; Xing, Qinghe

    2017-04-01

    p53-Transcriptional-regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the POMC/α-MSH productions induced by ultraviolet (UV) and is associated with UV-independent pathological pigmentation. When identifying the causative gene of dyschromatosis universalis hereditaria (DUH), we found three mutations encoding amino acid substitutions in the gene SAM and SH3 domain containing 1 (SASH1), and SASH1 was associated with guanine nucleotide-binding protein subunit-alpha isoforms short (Gαs). However, the pathological gene and pathological mechanism of DUH remain unknown for about 90 years. We demonstrate that SASH1 is physiologically induced by p53 upon UV stimulation and SASH and p53 is reciprocally induced at physiological and pathophysiological conditions. SASH1 is regulated by a novel p53/POMC/α-MSH/Gαs/SASH1 cascade to mediate melanogenesis. A novel p53/POMC/Gαs/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. Our study demonstrates that a novel p53/POMC/Gαs/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. © 2016 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

  20. Three hundred and eight nanometer excimer light therapy for alopecia universalis that is resistant to other treatments: A clinical study of 11 patients.

    PubMed

    Arakawa, Yukiyasu; Nomiyama, Tomoko; Katoh, Norito

    2016-12-01

    Three hundred and eight nanometer excimer light therapy has recently been reported to be effective against patchy alopecia areata (AA) in several clinical studies. However, these studies only included a few patients with severe forms of AA, and all of them exhibited poor outcomes. We further investigated the use of excimer light as a therapeutic option for cases of alopecia universalis (AU) that are resistant to other treatments. Eleven treatment-resistant AU patients were treated with a 308-nm excimer light at 2-week intervals for more than 16 sessions. Four patients achieved good responses and two patients exhibited poor responses. Three patients had Japanese skin type 1 and all of them achieved good responses. The radiation dose was increased until the patients exhibited marked erythema. The patients with Japanese skin type 3 who achieved good responses exhibited strong pigmentation at the irradiated sites. In conclusion, 308-nm excimer light therapy has significant effects on some AU patients who are resistant to other treatments and may be an alternative therapeutic option for AU. During the treatment of AU, high doses of radiation should be administrated until a strong inflammatory skin reaction is seen. © 2016 Japanese Dermatological Association.

  1. Genes relacionados con microftalmia y anoftalmia hereditarias.

    PubMed

    Matías-Pérez, Diana; García-Montalvo, Iván Antonio; Zenteno, Juan Carlos

    2017-01-01

    Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during embryonic stage. Their etiology is variable, although monogenic causes are of great importance as they have a high risk of familial recurrence. Included among the most severe congenital eye abnormalities are microphthalmia, defined by an abnormally small eye, and anophthalmia, characterized by congenital absence of ocular structures. The currrent knowledge of the genes involved in human microphthalmia and anophthalmia in humans is revised in this work. Copyright: © 2017 SecretarÍa de Salud.

  2. Depigmentation therapy in vitiligo universalis with cryotherapy and 4-hydroxyanisole.

    PubMed

    Di Nuzzo, S; Masotti, A

    2010-03-01

    Vitiligo is a disease characterized by the loss of melanocytes, resulting in progressive depigmentation of skin, and areas of normally pigmented skin can be of cosmetic concern. Several options have been tried to remove the pigment and make the skin a more even colour. We present an easy and effective therapeutic procedure based on single-session cryotherapy followed by topical 4-hydroxyanisole (4-HA).

  3. Musica Universalis or the Music of the Spheres

    NASA Astrophysics Data System (ADS)

    Birat, Jean-Pierre

    2018-06-01

    The Music of the Spheres was a model of the universe proposed by Pythagoras and Aristotle, which explained cosmology in terms of spheres to which the sun, the moon and the planets were pinned, while their motion was driven by something akin to music. Modern thinking, related to ecology and industrial ecology, has metaphorically breathed life back into this old model by speaking about spheres again: biosphere, geosphere, anthroposphere, technosphere, hydrosphere, cryosphere, atmosphere, etc. Sustainable development also speaks about its three pillars (economy, environment, society) represented in a Venn diagram as intersecting circles (or spheres). All these models differ from the models of physicists, as they are more conceptual diagrams than a representation of the world as it is. Thus, they remind us of the old Music of the Spheres model. They also stress connections, exchanges, equilibria between the spheres - or the lack of them -, like Pythagoras' music. The presentation will discuss these various approaches, see how they match to some extent, but also how they do not show a perfect fit. Analyzing what happens at the boundaries of the spheres, where they overlap or penetrate into each other, is a powerful way to analyze the connection between technology, society, life and ecosystems. It can also help discuss pollution, ecotoxicology and explore global solutions. This article was given as a keynote lecture at the EMERC 2017 (First International Conference on Energy and Material Efficiency), organized by ISIJ in Kobe, Japan, 11-13 October, 2017.

  4. Toward a Pax Universalis: A Historical Critique of the National Military Strategy for the 1990s

    DTIC Science & Technology

    1992-04-01

    some to be ethnocentric and perhaps neo -im­ perialistic. It is not intended to be so. In a speech to the United Nations on 23 September 1991, President...intelligence. As an example, at Adrianople in A.D. 378, Valens thought he was facing only 10,000 Visigoths ; the enemy force actually numbered many more than

  5. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.

    PubMed

    Piekutowska-Abramczuk, Dorota; Mierzewska, Hanna; Bekiesińska-Figatowska, Monika; Ciara, Elżbieta; Trubicka, Joanna; Pronicki, Maciej; Rokicki, Dariusz; Rydzanicz, Małgorzata; Płoski, Rafał; Pronicka, Ewa

    2016-01-01

    Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria, demonstrated mainly in Asian adults. Recently, they have been also found in patients with nonsyndromic bilateral striatal necrosis accompanied by skin changes of the freckles-like type. Here, we present Polish siblings with acute onset and slowly progressive extrapyramidal syndrome with preserved intellectual abilities and basal ganglia changes found in MRI. A Leigh syndrome was considered for a long time as the most frequent cause of such lesions in children. Finally, two molecular variants in non-mitochondria-related ADAR gene c.3202+1G>A (p.?) and c.577C>G (p.Pro193Ala) were revealed by whole exome sequencing. We suggest that bilateral striatal necrosis should be always differentiated from LS to prevent the diagnosis delay. The striatal involvement accompanied by the presence of freckles-like skin changes should direct differential diagnosis to the ADAR gene mutations screening.

  6. Lessons from the Renaissance: The Power of Multiple Knowledge Bases

    ERIC Educational Resources Information Center

    Whitmire, Kathleen; Beck, Joanna

    2010-01-01

    This article applies the Renaissance paradigm of "Homo universalis" to a 30-year retrospective of services provided in education settings to children and youth with language disorders. It also proposes directions to take for the future. The Renaissance ideal of "Homo universalis" refers to an individual who acquires learning in a wide variety of…

  7. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

    PubMed Central

    Courcet, Jean- Benoît; Elalaoui, Siham Chafai; Duplomb, Laurence; Tajir, Mariam; Rivière, Jean-Baptiste; Thevenon, Julien; Gigot, Nadège; Marle, Nathalie; Aral, Bernard; Duffourd, Yannis; Sarasin, Alain; Naim, Valeria; Courcet-Degrolard, Emilie; Aubriot-Lorton, Marie- Hélène; Martin, Laurent; Abrid, Jamal Eddin; Thauvin, Christel; Sefiani, Abdelaziz; Vabres, Pierre; Faivre, Laurence

    2015-01-01

    SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849G>A; p.Glu617Lys) in both affected individuals. Wound-healing assay showed that the patient's fibroblasts were better able than control fibroblasts to migrate. Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. SASH1 should be added to the list of genes responsible for autosomal-dominant and -recessive genodermatosis, with no phenotype in heterozygous patients in the recessive form, and to the list of genes responsible for a predisposition to skin cancer. PMID:25315659

  8. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

    PubMed

    Courcet, Jean-Benoît; Elalaoui, Siham Chafai; Duplomb, Laurence; Tajir, Mariam; Rivière, Jean-Baptiste; Thevenon, Julien; Gigot, Nadège; Marle, Nathalie; Aral, Bernard; Duffourd, Yannis; Sarasin, Alain; Naim, Valeria; Courcet-Degrolard, Emilie; Aubriot-Lorton, Marie-Hélène; Martin, Laurent; Abrid, Jamal Eddin; Thauvin, Christel; Sefiani, Abdelaziz; Vabres, Pierre; Faivre, Laurence

    2015-07-01

    SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849G>A; p.Glu617Lys) in both affected individuals. Wound-healing assay showed that the patient's fibroblasts were better able than control fibroblasts to migrate. Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. SASH1 should be added to the list of genes responsible for autosomal-dominant and -recessive genodermatosis, with no phenotype in heterozygous patients in the recessive form, and to the list of genes responsible for a predisposition to skin cancer.

  9. Children’s Hospice

    DTIC Science & Technology

    2007-05-01

    seizures , sub-arachnoid hemorrhaging, prenatal strokes , alopecia universalis (hair loss disease) husband is Active Duty, came from Ft. Hood 4...restriction, failure to thrive, a seizure disorder, cortical blindness husband is Active Duty Army 20 diagnosed with severe cerebral palsy at 3 mo old ex...linked hyper IgM); oldest son has cancer too Active Duty Army officer (wife and husband participated) 3 severe cerebral palsy, seizure disorder

  10. Systemic treatment for alopecia areata.

    PubMed

    Otberg, Nina

    2011-01-01

    Of the world population, 1.7% is suffering from alopecia areata at some point in their lives. The exact etiology of this disease is still unknown, and the course of the disease is unpredictable. Effective treatments, especially for severe multifocal alopecia areata, alopecia areata totalis, and alopecia areata universalis, are lacking. The present article will discuss side effects and relapse rates of different systemic agents for treatment of severe and rapid progressive alopecia areata. © 2011 Wiley Periodicals, Inc.

  11. Johann Christoph Sturm's universal mathematics and metaphysics (German Title: Universalmathematik und Metaphysik bei Johann Christoph Sturm)

    NASA Astrophysics Data System (ADS)

    Leinsle, Ulrich G.

    In order to understand Sturm's concept of a universal mathematics as a replacement or complement of metaphysics, one first has to examine the evolution of the idea of a mathesis universalis up to Sturm, and his concept of metaphysics. According to the understanding of those times, natural theology belongs to metaphysics. The last section is concerned with Sturm's statements on the existence of God and his assessments for a physico-theology.

  12. Tofacitinib for the treatment of severe alopecia areata and variants: A study of 90 patients.

    PubMed

    Liu, Lucy Y; Craiglow, Brittany G; Dai, Feng; King, Brett A

    2017-01-01

    Alopecia areata (AA) is a common autoimmune disorder. There are no reliably effective therapies for AA. We sought to evaluate the safety and efficacy of the Janus kinase 1/3 inhibitor, tofacitinib, in a series of patients over an extended period of time. This is a retrospective study of patients age 18 years or older with AA with at least 40% scalp hair loss treated with tofacitinib. The primary end point was the percent change in Severity of Alopecia Tool (SALT) score during treatment. Ninety patients met inclusion criteria. Of 65 potential responders to therapy, defined as those with alopecia totalis or alopecia universalis with duration of current episode of disease of 10 years or less or alopecia areata, 77% achieved a clinical response, with 58% of patients achieving greater than 50% change in SALT score over 4 to 18 months of treatment. Patients with AA experienced a higher percent change in SALT score than did patients with alopecia totalis or alopecia universalis (81.9% vs 59.0%). Tofacitinib was well tolerated, and there were no serious adverse events. The retrospective nature of the data, the relatively small number of patients, and lack of a control group are limitations. Tofacitinib should be considered for the treatment of severe AA, alopecia totalis, and alopecia universalis; tofacitinib dose response will be better defined by randomized controlled trials. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  13. Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.

    PubMed

    Zhang, J; Cheng, R; Liang, J; Ni, C; Li, M; Yao, Z

    2016-10-01

    Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects and the well-known LEOPARD syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 and PTPN11 were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations. Two novel mutations c.1537A>C (p.Ser513Arg) and 1527_1530dupAAGT (p.Leu511Lysfs*21) in SASH1 and a common p.Thr468Met mutation in PTPN11 were detected in three pediatric patients with lentiginous phenotypes, respectively. Comparisons between clinical presentations showed that SASH1-related phenotypes can exhibit hyper- and hypopigmentation on the trunk and extremities, similar to dyschromatosis, while scattered café au-lait spots usually appeared in PTPN11-related LEOPARD syndrome. Furthermore, the similarity in the clinical presentations of Peutz-Jeghers syndrome, Laugier-Hunziker syndrome, xeroderma pigmentosum, neurofibromatosis type I, suggesting that these conditions should be added into the differential diagnoses of lentiginous phenotypes. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway.

    PubMed

    Zhou, Ding'an; Wei, Zhiyun; Deng, Shanshan; Wang, Teng; Zai, Meiqing; Wang, Honglian; Guo, Luo; Zhang, Junyu; Zhong, Hailei; He, Lin; Xing, Qinghe

    2013-06-01

    One important function of melanocytes (MCs) is to produce and transfer melanin to neighbouring keratinocytes (KCs) to protect epithelial cells from UV radiation. The mechanisms regulating the specific migration and localisation of the MC lineage remain unknown. We have found three heterozygous mutations that cause amino acid substitutions in the SASH1 gene in individuals with a kind of dyschromatosis. In epidermal tissues from an affected individual, we observed the increased transepithelial migration of melanocytes. Functional analyses indicate that these SASH1 mutations not only cause the increased migration of A375 cells and but also induce intensive bindings with two novel cell adhesion partners IQGAP1 and Gαs. Further, SASH1 mutations induce uniform loss of E-Cadherin in human A375 cells. Our findings suggest a new scaffold protein SASH1 to regulate IQGAP1-E-Cadherin signalling and demonstrate a novel crosstalking between GPCR signalling, calmodulin signalling for the modulation of MCs invasion. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. Hyperimmunoglobulin E syndrome with juvenile dermatomyositis and calcinosis.

    PubMed

    Saikia, Bedangshu; Aneja, Himanshu; Jain, Jyoti; Puliyel, Jacob M

    2013-03-01

    Juvenile dermatomyositis (JDM) is a rare childhood disease with autoimmune association. Environmental factors are known to trigger JDM in genetically susceptible individuals (Schmieder et al., Dermatol Online 6:3, 2009). Calcinosis is a well-established complication of JDM. Prevalence is higher in children (30-70%; Özkaya et al., Erciyes Med J 30(1):40-43, 2008). Hyperimmunoglobulin E syndrome is a primary immunodeficiency syndrome with multiple recurrent abscess formation and raised serum immunoglobulin E levels. We report a case of JDM with calcinosis cutis universalis with hyperimmunoglobulin E syndrome. With a previous similar case report (Min et al., Korean J Intern Med 14:95-98, 1999), this could well be a new sequence syndrome where abscesses are the trigger for the onset of JDM.

  16. Topical minoxidil in the treatment of alopecia areata.

    PubMed Central

    Fenton, D A; Wilkinson, J D

    1983-01-01

    A modified double blind crossover study was performed to assess the effect of 1% topical minoxidil as compared with placebo in 30 patients with alopecia areata and alopecia totalis. The active preparation produced a highly significant incidence of hair regrowth. A cosmetically acceptable response was noted in 16 patients. No side effects were seen. The study confirmed that topical minoxidil will induce new hair growth in alopecia areata but that it is less likely to do so in more severe and extensive disease. Furthermore, patients with alopecia universalis and totalis may not respond at all. Nevertheless, as compared with other drugs minoxidil applied topically is relatively non-toxic, is easy to use, and has no systemic or local side effects. Images p1016-a PMID:6412929

  17. Immunological profiles in alopecia areata.

    PubMed

    Galbraith, G M; Thiers, B H; Vasily, D B; Fudenberg, H H

    1984-02-01

    Cell-mediated immunity and auto-immune phenomena were investigated in sixty patients with active alopecia areata of various degrees of severity. Serum auto-antibodies to thyroid antigens were detected in twenty-three patients. Examination of T-lymphocyte populations, lymphocyte DNA synthesis, and lymphokine production in response to mitogen stimulation revealed no differences between the sixty patients and matched healthy control subjects. However, patients with thyroid auto-immunity and/or the presence of alopecia totalis or universalis showed significant reductions in interactive T lymphocytes (recognized by rosette formation with human B lymphoblastoid cells) and diminished production of leukocyte migration inhibition factor in response to stimulation with phytohaemagglutinin. This suggests that immune mechanisms may be involved in the pathogenesis of alopecia areata which is associated with thyroid auto-immunity or which progresses to total hair loss.

  18. Music and astronomy. II. Unitedsoundofcosmos

    NASA Astrophysics Data System (ADS)

    Caballero, J. A.; Arias, A.; Machuca, J. J.; Morente, S.

    2017-03-01

    We have been congratulated on the stage by a Nobel laureate (he was our curtain raiser), shocked audiences in rock concerts, written monthly on Musica Universalis , made the second concert in 3D in Spain after Kraftwerk and broadcasted it live in Radio 3, mixed our music with poetry read aloud by scientists, composed the soundtracks of CARMENES, QUIJOTE, ESTRACK and the Gaia first data release, made a videoclip on how computer simulates the formation of stars, played our music in planetariums, museums, observatories throughout Spain and at the end of the meeting of the ESO telescopes time allocation committee... All those moments will not be lost in time like tears in rain, but put together in Bilbao during the 2016 meeting of the Spanish Astronomical Society.

  19. Christian Andreas Doppler: A legendary man inspired by the dazzling light of the stars

    PubMed Central

    Katsi, V; Felekos, I; Kallikazaros, I

    2013-01-01

    Christian Andreas Doppler is renowned primarily for his revolutionary theory of the Doppler effect, which has deeply influenced many areas of modern science and technology, including medicine. His work has laid the foundations for modern ultrasonography and his ideas are still inspiring discoveries more than a hundred years after his death. Doppler may well earn the title of Homo Universalis for his broad knowledge of physics, mathematics and astronomy and most of all for his indefatigable investigations for new ideas and his ingenious mind. According to Bolzano: “It is hard to believe how fruitful a genius Austria has in this man”. His legacy of scientific achievement have seen Doppler honoured in the later years on coinage and money, names of streets, educational institutions, rock groups, even of a lunar crater; while the ultimate tribute to his work is the countless references to the homonymous medical eponym. PMID:24376313

  20. Eu(III)-Sensitized Luminescence Probe for Determination of Tolnaftate in Pharmaceuticals and Biological Fluids.

    PubMed

    Alarfaj, Nawal A; El-Tohamy, Maha F

    2016-01-01

    A highly selective, sensitive, accurate, and reproducible luminescence procedure for determination of antifungal drug tolnaftate was developed. The introduced method was based on the formation of Europa Universalis III (Eu(III))-tolnaftate complex using sodium sulfite as a deoxygenated agent in the presence of acetate buffer (pH = 6) and micellar solution of anionic surfactant sodium dodecyl sulfate. The optimum conditions (effect of pH, buffer, surfactant, Eu(III), and sodium sulfite concentrations) for the luminescence signal were investigated and optimized. The luminescence signals were recorded at λex = 270 nm and λem = 460 nm. The method has a good linear response (0.2-130 μg/mL(-1)) between the luminescence intensity and the concentrations of the drug (r = 0.999), with a LOD 0.07 μg/mL(-1) and LOQ 0.2 μg/mL(-1). The luminescence signals of Eu (III)-tolnaftate-sodium dodecyl sulfate were found to be 200-fold more sensitive without the presence of micelle solution. The interferences of some additives, metals, amino acids, sugars, and other related pharmacological action drugs were examined and no interference was recorded. The proposed method was used for quick and simple determination of tolnaftate in its pharmaceuticals and biological fluids.

  1. Ruxolitinib-conjugated gold nanoparticles for topical administration: An alternative for treating alopecia?

    PubMed

    Boca, Sanda; Berce, Cristian; Jurj, Ancuta; Petrushev, Bobe; Pop, Laura; Gafencu, Grigore-Aristide; Selicean, Sonia; Moisoiu, Vlad; Temian, Daiana; Micu, Wilhelm-Thomas; Astilean, Simion; Braicu, Cornelia; Tomuleasa, Ciprian; Berindan-Neagoe, Ioana

    2017-11-01

    Alopecia is a dermatological condition for which Janus kinase (JAK) inhibitors have recently emerged as potential therapy options, but with limited practical use because of the systemic side effects. The topical use of Ruxolitinib in alopecia universalis has been demonstrated, but little is known about the pharmacodynamics and pharmacokinetics of this way of administration. Nanomedicine provides improved therapeutics. In the current paper we present preliminary data regarding the potential use of Ruxolitinib-conjugated gold nanoparticles (GNPs) in dermatological conditions, as GNPs have been proven to have a reduced absorption rate into the systemic blood flow for cutaneous administration. Internalization of the newly formed bioconjugate was assessed by electron microscopy and the functional effects of the drug were investigated by cell counting, flow cytometry and western blotting. Our data show that gold nanoparticles conjugated with Ruxolitinib inhibit the proliferation of fibroblasts by inhibiting JAK2 protein. Ruxolitinib carried by gold nanoparticles alters the proliferation of human fibroblasts, which is of great clinical importance as it can be readily administered on the skin with minimal risk of systemic side effects. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Hemolytic disease in the newborn - history and prevention in the world and the Czech Republic.

    PubMed

    Santavy, Jiri

    2010-06-01

    Hemolytic disease in the newborn with its typical signs and poor prognosis has been known for centuries. Historically it can be divided into three pathological states which are fetal hydrops (hydrops fetus universalis), neonatal jaundice (icterus neonati gravis familiaris) and fetal anemia (anemia neonati). Almost 70 reports with quite accurate descriptions were found up to the end of 19th century. The patho physiological basis of the condition began to be studied at the beginning of the last century and the development of our knowledge is an example of the cooperation between pathologists, pediatricians, hematologists and later, obstetricians, immunologists and geneticists. Despite all the advances in this field it remains a serious disease up to this time. It is not managed successfully in all cases and despite successful immunological prophylaxis there are cases when we need to administer intrauterine transfusion based on the information received by dopplerometric measurement of arteria cerebri perfusion and fetal blood sampling. Review of lover cited literature. The history of the hemolytic disease in the newborn, its condition and approaches to it has not been recently compiled in the Czech Republic.

  3. Raymond de Vieussens and his contribution to the study of white matter anatomy: historical vignette.

    PubMed

    Vergani, Francesco; Morris, Christopher M; Mitchell, Patrick; Duffau, Hugues

    2012-12-01

    In recent years, there has been a renewed interest in the study of white matter anatomy, both with the use of postmortem dissections and diffusion tensor imaging tractography. One of the precursors in the study of white matter anatomy was Raymond de Vieussens (1641-1716), a French anatomist born in Le Vigan. He studied medicine at the University of Montpellier in southern France, one of the most ancient and lively schools of medicine in Europe. In 1684 Vieussens published his masterpiece, the Neurographia Universalis, which is still considered one of the most complete and accurate descriptions of the nervous system provided in the 17th century. He described the white matter of the centrum ovale and was the first to demonstrate the continuity of the white matter fibers from the centrum ovale to the brainstem. He also described the dentate nuclei, the pyramids, and the olivary nuclei. According to the theory of Galen, Vieussens considered that the function of the white matter was to convey the "animal spirit" from the centrum ovale to the spinal cord. Although neglected, Vieussens' contribution to the study of white matter is relevant. His pioneering work showed that the white matter is not a homogeneous substance, but rather a complex structure rich in fibers that are interconnected with different parts of the brain. These initial results paved the way to advancements observed in later centuries that eventually led to modern hodology.

  4. Insights into the Emergent Bacterial Pathogen Cronobacter spp., Generated by Multilocus Sequence Typing and Analysis

    PubMed Central

    Joseph, Susan; Forsythe, Stephen J.

    2012-01-01

    Cronobacter spp. (previously known as Enterobacter sakazakii) is a bacterial pathogen affecting all age groups, with particularly severe clinical complications in neonates and infants. One recognized route of infection being the consumption of contaminated infant formula. As a recently recognized bacterial pathogen of considerable importance and regulatory control, appropriate detection, and identification schemes are required. The application of multilocus sequence typing (MLST) and analysis (MLSA) of the seven alleles atpD, fusA, glnS, gltB, gyrB, infB, and ppsA (concatenated length 3036 base pairs) has led to considerable advances in our understanding of the genus. This approach is supported by both the reliability of DNA sequencing over subjective phenotyping and the establishment of a MLST database which has open access and is also curated; http://www.pubMLST.org/cronobacter. MLST has been used to describe the diversity of the newly recognized genus, instrumental in the formal recognition of new Cronobacter species (C. universalis and C. condimenti) and revealed the high clonality of strains and the association of clonal complex 4 with neonatal meningitis cases. Clearly the MLST approach has considerable benefits over the use of non-DNA sequence based methods of analysis for newly emergent bacterial pathogens. The application of MLST and MLSA has dramatically enabled us to better understand this opportunistic bacterium which can cause irreparable damage to a newborn baby’s brain, and has contributed to improved control measures to protect neonatal health. PMID:23189075

  5. Diversity of the Cronobacter Genus as Revealed by Multilocus Sequence Typing

    PubMed Central

    Joseph, S.; Sonbol, H.; Hariri, S.; Desai, P.; McClelland, M.

    2012-01-01

    Cronobacter (previously known as Enterobacter sakazakii) is a diverse bacterial genus consisting of seven species: C. sakazakii, C. malonaticus, C. turicensis, C. universalis, C. muytjensii, C. dublinensis, and C. condimenti. In this study, we have used a multilocus sequence typing (MLST) approach employing the alleles of 7 genes (atpD, fusA, glnS, gltB, gyrB, infB, and ppsA; total length, 3,036 bp) to investigate the phylogenetic relationship of 325 Cronobacter species isolates. Strains were chosen on the basis of their species, geographic and temporal distribution, source, and clinical outcome. The earliest strain was isolated from milk powder in 1950, and the earliest clinical strain was isolated in 1953. The existence of seven species was supported by MLST. Intraspecific variation ranged from low diversity in C. sakazakii to extensive diversity within some species, such as C. muytjensii and C. dublinensis, including evidence of gene conversion between species. The predominant species from clinical sources was found to be C. sakazakii. C. sakazakii sequence type 4 (ST4) was the predominant sequence type of cerebral spinal fluid isolates from cases of meningitis. PMID:22785185

  6. Strategies for the Identification and Tracking of Cronobacter Species: An Opportunistic Pathogen of Concern to Neonatal Health

    PubMed Central

    Yan, Qiongqiong; Fanning, Séamus

    2015-01-01

    Cronobacter species are emerging opportunistic food-borne pathogens, which consists of seven species, including C. sakazakii, C. malonaticus, C. muytjensii, C. turicensis, C. dublinensis, C. universalis, and C. condimenti. The organism can cause severe clinical infections, including necrotizing enterocolitis, septicemia, and meningitis, predominately among neonates <4 weeks of age. Cronobacter species can be isolated from various foods and their surrounding environments; however, powdered infant formula (PIF) is the most frequently implicated food source linked with Cronobacter infection. This review aims to provide a summary of laboratory-based strategies that can be used to identify and trace Cronobacter species. The identification of Cronobacter species using conventional culture method and immuno-based detection protocols were first presented. The molecular detection and identification at genus-, and species-level along with molecular-based serogroup approaches are also described, followed by the molecular sub-typing methods, in particular pulsed-field gel electrophoresis and multi-locus sequence typing. Next generation sequence approaches, including whole genome sequencing, DNA microarray, and high-throughput whole-transcriptome sequencing, are also highlighted. Appropriate application of these strategies would contribute to reduce the risk of Cronobacter contamination in PIF and production environments, thereby improving food safety and protecting public health. PMID:26000266

  7. Development of a Custom-Designed, Pan Genomic DNA Microarray to Characterize Strain-Level Diversity among Cronobacter spp.

    PubMed Central

    Tall, Ben Davies; Gangiredla, Jayanthi; Gopinath, Gopal R.; Yan, Qiongqiong; Chase, Hannah R.; Lee, Boram; Hwang, Seongeun; Trach, Larisa; Park, Eunbi; Yoo, YeonJoo; Chung, TaeJung; Jackson, Scott A.; Patel, Isha R.; Sathyamoorthy, Venugopal; Pava-Ripoll, Monica; Kotewicz, Michael L.; Carter, Laurenda; Iversen, Carol; Pagotto, Franco; Stephan, Roger; Lehner, Angelika; Fanning, Séamus; Grim, Christopher J.

    2015-01-01

    Cronobacter species cause infections in all age groups; however neonates are at highest risk and remain the most susceptible age group for life-threatening invasive disease. The genus contains seven species:Cronobacter sakazakii, Cronobacter malonaticus, Cronobacter turicensis, Cronobacter muytjensii, Cronobacter dublinensis, Cronobacter universalis, and Cronobacter condimenti. Despite an abundance of published genomes of these species, genomics-based epidemiology of the genus is not well established. The gene content of a diverse group of 126 unique Cronobacter and taxonomically related isolates was determined using a pan genomic-based DNA microarray as a genotyping tool and as a means to identify outbreak isolates for food safety, environmental, and clinical surveillance purposes. The microarray constitutes 19,287 independent genes representing 15 Cronobacter genomes and 18 plasmids and 2,371 virulence factor genes of phylogenetically related Gram-negative bacteria. The Cronobacter microarray was able to distinguish the seven Cronobacter species from one another and from non-Cronobacter species; and within each species, strains grouped into distinct clusters based on their genomic diversity. These results also support the phylogenic divergence of the genus and clearly highlight the genomic diversity among each member of the genus. The current study establishes a powerful platform for further genomics research of this diverse genus, an important prerequisite toward the development of future countermeasures against this foodborne pathogen in the food safety and clinical arenas. PMID:25984509

  8. Hair loss in elderly women.

    PubMed

    Chen, WenChieh; Yang, Chao-Chun; Todorova, Antonia; Al Khuzaei, Safaa; Chiu, Hsien-Ching; Worret, Wolf-Ingo; Ring, Johannes

    2010-01-01

    Hair loss in elderly women has been becoming a major topic in the daily practice of dermatology. Aging of hair follicles seems to affect hair growth and pigmentation, the molecular mechanisms of which remain to be elucidated. Further senile changes in physiology and immunity may influence the onset and course of hair diseases. Some preexisting diseases such as androgenetic alopecia usually worsen after menopause, while others, like discoid lupus erythematosus, may attenuate. Hormone surveying, especially with regard to internal androgen-producing tumors, is indicated in postmenopausal women with androgenetic alopecia of sudden exacerbation or with unusual manifestation or other virilizing signs. The prevalence of alopecia totalis and alopecia universalis appears to be much lower in postmenopausal ages as compared to earlier onset. Acute or chronic telogen effluvium is not uncommonly superimposed on androgenetic alopecia. Trichotillomania shows a marked female predominance in the senile age group with a higher rate of psychopathology. Worldwide, tinea capitis has been increasingly observed in postmenopausal women. Frontal fibrosing alopecia, giant cell arteritis and erosive pustular dermatosis involve mainly elder women leading to scarring alopecia. Alopecia induced by tumor metastasis to the scalp must be considered in women with underlying neoplasms, especially breast cancer. Overall, hair loss in postmenopausal women is often multifactorial and warrants a close inspection.

  9. Archaeal and bacterial diversity in two hot spring microbial mats from a geothermal region in Romania.

    PubMed

    Coman, Cristian; Drugă, Bogdan; Hegedus, Adriana; Sicora, Cosmin; Dragoş, Nicolae

    2013-05-01

    The diversity of archaea and bacteria was investigated in two slightly alkaline, mesophilic hot springs from the Western Plain of Romania. Phylogenetic analysis showed a low diversity of Archaea, only three Euryarchaeota taxa being detected: Methanomethylovorans thermophila, Methanomassiliicoccus luminyensis and Methanococcus aeolicus. Twelve major bacterial groups were identified, both springs being dominated by Cyanobacteria, Chloroflexi and Proteobacteria. While at the phylum/class-level the microbial mats share a similar biodiversity; at the species level the geothermal springs investigated seem to be colonized by specific consortia. The dominant taxa were filamentous heterocyst-containing Fischerella, at 45 °C and non-heterocyst Leptolyngbya and Geitlerinema, at 55 °C. Other bacterial taxa (Thauera sp., Methyloversatilis universalis, Pannonibacter phragmitetus, Polymorphum gilvum, Metallibacterium sp. and Spartobacteria) were observed for the first time in association with a geothermal habitat. Based on their bacterial diversity the two mats were clustered together with other similar habitats from Europe and part of Asia, most likely the water temperature playing a major role in the formation of specific microbial communities that colonize the investigated thermal springs.

  10. Methotrexate for the treatment of pediatric alopecia areata.

    PubMed

    Landis, Erin T; Pichardo-Geisinger, Rita O

    2018-03-01

    Alopecia areata is a form of nonscarring hair loss that occurs in pediatric and adult patients, with presentation varying from round or ovoid patches of alopecia to alopecia totalis or universalis. While frustrating for patients, it can also be frustrating for clinicians to treat, as there is no definitive treatment. Dermatologists are very familiar with the use of methotrexate for psoriasis and other inflammatory skin diseases, and this medication is generally well tolerated in children. This study presents a case series reviewing the efficacy of methotrexate in our pediatric patients with alopecia areata, making use of a retrospective chart review design from 2011 to 2016. In this data set, 8/14 subjects (57%) experienced good regrowth with methotrexate, while 3/14 (21%) had a response that could not be assessed due to loss to follow-up or premature discontinuation of the medication. No cases discontinued the medication due to recognized methotrexate side effects. This review suggests methotrexate is a generally safe and often effective medication in pediatric alopecia areata.

  11. Consensus on updating immunizations in patients with primary immunodeficiencies

    PubMed

    2018-04-01

    Las inmunodeficiencias primarias (IDP) constituyen un grupo de enfermedades hereditarias que afectan el número y/o la función de los distintos componentes del sistema inmune. Su prevalencia es de 1:1000-2000 nacimientos. Comprenden defectos de la inmunidad adaptativa, defectos de la inmunidad innata, inmunodeficiencias con fenotipos característicos, trastornos de la regulación inmune, síndromes autoinflamatorios, defectos de los fagocitos y del sistema del complemento y defectos considerados fenocopias de IDP. La vacunación con vacunas inactivadas es segura y puede ser efectiva en muchas inmunodeficiencias; las vacunas vivas atenuadas pueden no ser protectoras en ciertas IDP o presentarse como enfermedad vacunal asociada a la inmunización, lo que conlleva una alta morbimortalidad. Con el objetivo de actualizar las recomendaciones de vacunas en pacientes con IDP, el Comité Nacional de Infectología y el Grupo de Trabajo de Inmunología trabajaron sobre las vacunas que podían indicarse a estos pacientes, convivientes y el equipo de salud.

  12. Kombinierte Hoch-/Niedrig-Dosis-Therapie mit systemischen Glukokor-tikoiden bei schweren Verlaufsformen der Alopecia areata im Kindesalter.

    PubMed

    Jahn-Bassler, Karin; Bauer, Wolfgang Michael; Karlhofer, Franz; Vossen, Matthias G; Stingl, Georg

    2017-01-01

    Schwere Verlaufsformen der Alopecia areata (AA) im Kindesalter sind aufgrund limitierter Optionen therapeutisch herausfordernd. Systemische, hochdosierte Glukokortikoide weisen die schnellste Ansprechrate auf, nach dem Absetzen kommt es allerdings zu Rezidiven. Eine längerfristige Hochdosis-Anwendung ist aufgrund der zu erwartenden Nebenwirkungen nicht empfehlenswert. Eine dauerhafte Steroiderhaltungstherapie unterhalb der Cushing-Schwellen-Dosis nach Bolustherapie könnte die Krankheitsaktivität ohne Nebenwirkungen längerfristig unterdrücken. Im Rahmen einer offenen Anwendungsbeobachtung wurden 13 Kinder mit schweren Formen der AA in diese Studie eingeschlossen. Bei sieben Kindern lag eine AA totalis/universalis vor, bei sechs eine multifokale AA mit Befall von mehr als 50 % der Kopfhaut. Das Therapieregime sah eine initiale Prednisolon-Dosierung von 2 mg/kg Körpergeweicht (KG) vor und wurde innerhalb von neun Wochen auf eine Erhaltungsdosierung unter der individuellen Cushing-Schwelle reduziert. Der Nachbeobachtungszeitraum betrug ein bis drei Jahre. Wir beobachteten in 62 % aller Fälle ein komplettes Nachwachsen der Haare. Die mittlere Dauer bis zum Ansprechen lag bei 6,6 Wochen und konnte mit der Erhaltungstherapie über den gesamten Beobachtungszeitraum aufrechterhalten werden. An Nebenwirkungen wurden ausschließlich eine Gewichtszunahme (1-3 kg) bei allen Behandelten sowie eine milde Steroidakne in 23 % der Fälle beobachtet. Die kombinierte Hoch-/Niedrig-Dosis-Therapie mit systemischen Glukokortikoiden mittels Prednisolon zeigte eine hohe, dauerhafte Ansprechrate ohne signifikante Nebenwirkungen. © 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  13. Association of HLA class I alleles with aloplecia areata in Chinese Hans.

    PubMed

    Xiao, Feng-Li; Yang, Sen; Yan, Kai-lin; Cui, Yong; Liang, Yan-Hua; Zhou, Fu-Sheng; Du, Wen-Hui; Gao, Min; Sun, Liang-Dan; Fan, Xing; Chen, Jian-Jun; Wang, Pei-Guang; Zhu, Ya-Gang; Zhou, Shun-Ming; Zhang, Xue-Jun

    2006-02-01

    Some studies suggested that human HLA status may potentiate development of the AA phenotype and exists ethic differences. No report has been published about HLA class I alleles associated with AA in Chinese Hans. To study the distribution of HLA class I alleles and haplotypes in Chinese Hans AA patients and the relation of HLA class I profile with age of onset, severity, duration of current attack, past history and family history. The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA class I alleles in 192 patients with AA and 252 healthy controls in Chinese Hans. The frequencies of HLA-A*02, -A*03, -B*18, -B*27, -B*52 and -Cw*0704 were significantly higher in patients than in controls. The A*2-B*18, A*2-B*27, A*2-B*52, A*2-Cw*0704, B*18-Cw*0704, B*27-Cw*0704, B*52-Cw*0704 were found as high-risk haplotypes in developing AA in this study. The HLA-A*02 and -A*03 were observed increased frequencies in patients less than 50% hair loss, and HLA-B*27 equally in patients of 50-99% hair loss, alopecia totalis and alopecia universalis. The frequencies of HLA-A*02 and -B*27 were significantly raised in recurrent patients, and ones of HLA-A*02, -A*03 and -B*27 similarly in patients without a positive family history. This study demonstrated the positive association of HLA class I alleles and haplotypes with AA. There may be differences in genetic background in patients with different age of onset, grade of scalp hair loss, duration of current attack, a past history and a family history.

  14. Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species

    PubMed Central

    Cummings, Craig A.; Shih, Rita; Degoricija, Lovorka; Rico, Alain; Brzoska, Pius; Hamby, Stephen E.; Masood, Naqash; Hariri, Sumyya; Sonbol, Hana; Chuzhanova, Nadia; McClelland, Michael; Furtado, Manohar R.; Forsythe, Stephen J.

    2012-01-01

    Background Species of Cronobacter are widespread in the environment and are occasional food-borne pathogens associated with serious neonatal diseases, including bacteraemia, meningitis, and necrotising enterocolitis. The genus is composed of seven species: C. sakazakii, C. malonaticus, C. turicensis, C. dublinensis, C. muytjensii, C. universalis, and C. condimenti. Clinical cases are associated with three species, C. malonaticus, C. turicensis and, in particular, with C. sakazakii multilocus sequence type 4. Thus, it is plausible that virulence determinants have evolved in certain lineages. Methodology/Principal Findings We generated high quality sequence drafts for eleven Cronobacter genomes representing the seven Cronobacter species, including an ST4 strain of C. sakazakii. Comparative analysis of these genomes together with the two publicly available genomes revealed Cronobacter has over 6,000 genes in one or more strains and over 2,000 genes shared by all Cronobacter. Considerable variation in the presence of traits such as type six secretion systems, metal resistance (tellurite, copper and silver), and adhesins were found. C. sakazakii is unique in the Cronobacter genus in encoding genes enabling the utilization of exogenous sialic acid which may have clinical significance. The C. sakazakii ST4 strain 701 contained additional genes as compared to other C. sakazakii but none of them were known specific virulence-related genes. Conclusions/Significance Genome comparison revealed that pair-wise DNA sequence identity varies between 89 and 97% in the seven Cronobacter species, and also suggested various degrees of divergence. Sets of universal core genes and accessory genes unique to each strain were identified. These gene sequences can be used for designing genus/species specific detection assays. Genes encoding adhesins, T6SS, and metal resistance genes as well as prophages are found in only subsets of genomes and have contributed considerably to the variation of

  15. DNA-Sequence Based Typing of the Cronobacter Genus Using MLST, CRISPR-cas Array and Capsular Profiling

    PubMed Central

    Ogrodzki, Pauline; Forsythe, Stephen J.

    2017-01-01

    The Cronobacter genus is composed of seven species, within which a number of pathovars have been described. The most notable infections by Cronobacter spp. are of infants through the consumption of contaminated infant formula. The description of the genus has greatly improved in recent years through DNA sequencing techniques, and this has led to a robust means of identification. However some species are highly clonal and this limits the ability to discriminate between unrelated strains by some methods of genotyping. This article updates the application of three genotyping methods across the Cronobacter genus. The three genotyping methods were multilocus sequence typing (MLST), capsular profiling of the K-antigen and colanic acid (CA) biosynthesis regions, and CRISPR-cas array profiling. A total of 1654 MLST profiled and 286 whole genome sequenced strains, available by open access at the PubMLST Cronobacter database, were used this analysis. The predominance of C. sakazakii and C. malonaticus in clinical infections was confirmed. The majority of clinical strains being in the C. sakazakii clonal complexes (CC) 1 and 4, sequence types (ST) 8 and 12 and C. malonaticus ST7. The capsular profile K2:CA2, previously proposed as being strongly associated with C. sakazakii and C. malonaticus isolates from severe neonatal infections, was also found in C. turicensis, C. dublinensis and C. universalis. The majority of CRISPR-cas types across the genus was the I-E (Ecoli) type. Some strains of C. dublinensis and C. muytjensii encoded the I-F (Ypseudo) type, and others lacked the cas gene loci. The significance of the expanding profiling will be of benefit to researchers as well as governmental and industrial risk assessors. PMID:29033918

  16. Prevalence and Relative Risk of Cronobacter spp., Salmonella spp., and Listeria monocytogenes Associated with the Body Surfaces and Guts of Individual Filth Flies

    PubMed Central

    Pearson, Rachel E. Goeriz; Miller, Amy K.; Ziobro, George C.

    2012-01-01

    Although flies are important vectors of food-borne pathogens, there is little information to accurately assess the food-related health risk of the presence of individual flies, especially in urban areas. This study quantifies the prevalence and the relative risk of food-borne pathogens associated with the body surfaces and guts of individual wild flies. One hundred flies were collected from the dumpsters of 10 randomly selected urban restaurants. Flies were identified using taxonomic keys before being individually dissected. Cronobacter spp., Salmonella spp., and Listeria monocytogenes were detected using the PCR-based BAX system Q7. Positive samples were confirmed by culture on specific media and through PCR amplification and sequencing or ribotyping. Among collected flies were the housefly, Musca domestica (47%), the blowflies, Lucilia cuprina (33%) and Lucilia sericata (14%), and others (6%). Cronobacter species were detected in 14% of flies, including C. sakazakii, C. turicensis, and C. universalis, leading to the proposal of flies as a natural reservoir of this food-borne pathogen. Six percent of flies carried Salmonella enterica, including the serovars Poona, Hadar, Schwarzengrund, Senftenberg, and Brackenridge. L. monocytogenes was detected in 3% of flies. Overall, the prevalence of food-borne pathogens was three times greater in the guts than on the body surfaces of the flies. The relative risk of flies carrying any of the three pathogens was associated with the type of pathogen, the body part of the fly, and the ambient temperature. These data enhance the ability to predict the microbiological risk associated with the presence of individual flies in food and food facilities. PMID:22941079

  17. Serum and tissue angiotensin-converting enzyme in patients with alopecia areata.

    PubMed

    Fahim, Shabnam; Montazer, Fatemeh; Tohidinik, Hamid Reza; Naraghi, Zahra Safaei; Abedini, Robabeh; Nasimi, Maryam; Ghandi, Narges

    2018-03-27

    Alopecia areata is an immune-dependent disorder characterized by the interaction of T-lymphocytes with follicular antigens. Recent studies have shown the existence of a local renin-angiotensin system in the skin, where angiotensin-converting enzyme (ACE) plays a role in autoimmunity and inflammation. The objective of this study was to evaluate serum and tissue ACE activity in patients with alopecia areata. This case-control study was conducted on patients with alopecia areata and healthy controls. Serum and tissue ACE activity were assessed and compared between the two groups. Twenty-five alopecia areata patients (60% male, mean age 32.1 ± 9.9 years) and 24 controls (50% male, mean age 37.4 ± 8.8 years) were included. Mean serum ACE activity was 52.1 ± 9 U/L in cases and 55.3 ± 14.7 U/L in controls (P = 0.37). Tissue ACE activity was significantly lower in cases in all parts of the skin i.e. epidermis (P = 0.016), follicular epithelium (P = 0.004), and endothelium (P = 0.037). Among cases, serum ACE activity was significantly higher in patients with more severe disease (P = 0.030), nonpatchy alopecia areata (alopecia universalis; ophiasis, patchy and ophiasis, diffuse) (P = 0.029), and with nail involvement (P = 0.027). The sample size was too small to draw definite conclusions. Further, most of the patients had only mild or moderate alopecia areata. Unlike in some other inflammatory diseases, the tissue level of ACE seems to be significantly lower in alopecia areata compared to normal controls. Serum ACE was significantly higher in patients with more severe disease.

  18. Vitiligo on black skin: epidemiological and clinical aspects in dermatology, Cotonou (Benin).

    PubMed

    Dégboé, Bérénice; Atadokpèdé, Félix; Saka, Bayaki; Adégbidi, Hugues; Koudoukpo, Christiane; Yédomon, Hubert; do Ango-Padonou, Florencia

    2017-01-01

    Vitiligo is unsightly on darkly pigmented skin and leads important stigmatization because of the mix-up with leprosy. We analyzed retrospectively the epidemiological and clinical patterns of vitiligo on darkly pigmented skin between 1988 and 2008 in the Department of Dermatology in Cotonou (Benin). The diagnosis was made based on the clinical characteristics of vitiligo. Two hundred and forty-six patients were seen, representing 0.9% of new consultations. The gender ratio was 1 : 1, and the mean age of patients was 25.9 years. The mean duration of the lesions was 30.9 months. Among the 246 patients, an associated pathology was found in 26% of cases. These included atopy (23.2%), diabetes (1.6%), thyroid disease (0.8%), and alopecia (0.4%). A family history of vitiligo was present in 1.2% of cases. The sites of the lesions were in descending order of frequency: head (60.6%), lower limbs (40.2%), upper limbs (33.3%), trunk (22.4%), genitals (13.0%), and neck (8.9%). On the head, the most common sites affected were the lips (65.1%), cheek (20.8%), and ears (16.8%). According to the different clinical forms, vitiligo was achromic (76%), speckled (12.6%), and trichromic (11.4%). Vitiligo vulgaris was the commonest form of the disease (52.4%), followed by localized vitiligo (36.2%), segmental vitiligo (9.8%), and vitiligo universalis (1.6%). Triggering factors were identified in 4.5% of patients. Our survey shows that the patterns of vitiligo are similar to that reported from other African countries with a few distinguishing particularities. © 2016 The International Society of Dermatology.

  19. Pan-genome analysis of the emerging foodborne pathogen Cronobacter spp. suggests a species-level bidirectional divergence driven by niche adaptation

    PubMed Central

    2013-01-01

    Background Members of the genus Cronobacter are causes of rare but severe illness in neonates and preterm infants following the ingestion of contaminated infant formula. Seven species have been described and two of the species genomes were subsequently published. In this study, we performed comparative genomics on eight strains of Cronobacter, including six that we sequenced (representing six of the seven species) and two previously published, closed genomes. Results We identified and characterized the features associated with the core and pan genome of the genus Cronobacter in an attempt to understand the evolution of these bacteria and the genetic content of each species. We identified 84 genomic regions that are present in two or more Cronobacter genomes, along with 45 unique genomic regions. Many potentially horizontally transferred genes, such as lysogenic prophages, were also identified. Most notable among these were several type six secretion system gene clusters, transposons that carried tellurium, copper and/or silver resistance genes, and a novel integrative conjugative element. Conclusions Cronobacter have diverged into two clusters, one consisting of C. dublinensis and C. muytjensii (Cdub-Cmuy) and the other comprised of C. sakazakii, C. malonaticus, C. universalis, and C. turicensis, (Csak-Cmal-Cuni-Ctur) from the most recent common ancestral species. While several genetic determinants for plant-association and human virulence could be found in the core genome of Cronobacter, the four Cdub-Cmuy clade genomes contained several accessory genomic regions important for survival in a plant-associated environmental niche, while the Csak-Cmal-Cuni-Ctur clade genomes harbored numerous virulence-related genetic traits. PMID:23724777

  20. [Not Available].

    PubMed

    San Mauro Martin, Ismael; Mendive Dubourdieu, Paula; Paredes Barato, Víctor; Garicano Vilar, Elena

    2016-07-19

    Introducción: la tradición de la comida picante desempeña un papel muy importante en el gusto por este tipo de comida y su tolerancia. Las preferencias alimentarias muestran influencia genética y ambiental.Objetivos: estudiar la tolerancia y el gusto por el picante de tres poblaciones, y la influencia hereditaria y del ambiente.Métodos:se realizó una encuesta a 522 sujetos, de tres continentes (Asia, Europa y Latinoamérica) en tres idiomas (español, inglés y chino) a través de Internet. Se realizaron preguntas acerca de la tolerancia al picante, el gusto por los alimentos picantes, su uso, la edad de comienzo de consumo, el gusto del padre y de la madre y si ella lo consumía durante el embarazo y/o lactancia.Resultados: existe diferencia entre el gusto por el picante del hijo y el sexo (p < 0,001), la tolerancia (p < 0,001) y, solo en el sexo femenino, el gusto de la madre por el picante (p < 0,001), su consumo durante el embarazo (p < 0,001) y la lactancia (p = 0,005) y el gusto del padre por el picante (p = 0,003). Existe correlación entre el continente de residencia (p = 0,007) y de nacimiento (p = 0,012) y la tolerancia a los alimentos picantes.Conclusión: la influencia de los progenitores, el género y la composición corporal se relacionaron con gustos y tolerancias diferentes.

  1. Genetic Diversity, Antimicrobial Susceptibility, and Biofilm Formation of Cronobacter spp. Recovered from Spices and Cereals

    PubMed Central

    Li, Yuanhong; Yu, Huan; Jiang, Hua; Jiao, Yang; Zhang, Yaodong; Shao, Jihong

    2017-01-01

    Cronobacter species are important food-borne opportunistic pathogens which have been implicated in the cause of necrotizing enterocolitis, sepsis, and meningitis in neonates and infants. However, these bacteria are routinely found in foodstuffs, clinical specimens, and environmental samples. This study investigated the genetic diversity, antimicrobial susceptibility, and biofilm formation of Cronobacter isolates (n = 40) recovered from spices and cereals in China during 2014–2015. Based on the fusA sequencing analysis, we found that the majority (23/40, 57.5%) of Cronobacter isolates in spices and cereals were C. sakazakii, while the remaining strains were C. dublinensis (6/40, 15.0%), C. malonaticus (5/40, 12.5%), C. turicensis (4/40, 10.0%), and C. universalis (2/40, 5.0%). Multilocus sequence typing (MLST) analysis produced 30 sequence types (STs) among the 40 Cronobacter isolates, with 5 STs (ST4, ST13, ST50, ST129, and ST158) related to neonatal meningitis. The pattern of the overall ST distribution was diverse; in particular, it was revealed that ST148 was the predominant ST, presenting 12.5% within the whole population. MLST assigned 12 isolates to 7 different clonal complexes (CCs), 4, 13, 16, 17, 72, 129, and 143, respectively. The results of O-antigen serotyping indicated that C. sakazakii serotype O1 and O2 were the most two prevalent serotypes. The antimicrobial susceptibility testing showed that the 40 Cronobacter isolates were susceptible to most of the antibiotics tested except for ceftriaxone, meropenem, and aztreona. Of the 40 Cronobacter strains tested, 13 (32.5%) were assessed as weak bioflim producers, one (2.5%) was a moderate biofilm producer, one (2.5%) was strong biofilm producer, and the others (62.5%) were non-biofilm producers. MLST and O-antigen serotyping have indicated that Cronobacter strains recovered from spices and cereals were genetically diverse. Isolates of clinical origin, particularly the C. sakazakii ST4 neonatal meningitic

  2. Reconstituting the Evolutionary History of Cronobacter Driven by Differentiated CRISPR Activity.

    PubMed

    Zeng, Haiyan; Zhang, Jumei; Wu, Qingping; He, Wenjing; Wu, Haoming; Ye, Yingwang; Li, Chengsi; Ling, Na; Chen, Moutong; Wang, Juan; Cai, Shuzhen; Lei, Tao; Ding, Yu; Xue, Liang

    2018-03-09

    Cronobacter strains harboring the CRISPR-Cas system are important foodborne pathogens causing serious neonatal infections. However, the specific role of the CRISPR-Cas system in bacterial evolution remains relatively unexplored. In this study, we investigated the impact of CRISPR-Cas in Cronobacter evolution and obtained 137 new whole-genome sequences of Cronobacter by next-generation sequencing technology. Among the strains examined (n=240), 90.6% (193/213) of prevalent species Cronobacter sakazakii , Cronobacter malonaticus , and Cronobacter dublinensis strains had intact CRISPR-Cas systems. Two rare species, Cronobacter condimenti (n=2) and Cronobacter universalis (n=6), lacked and preserved the CRISPR-Cas system at a low frequency (1/6), respectively. These results suggest that the presence of one CRISPR-Cas system in Cronobacter is important for the species to maintain genome homeostasis for survival. The Cronobacter ancestral strain was likely to harbored both subtype I-E and I-F CRISPR-Cas systems, during the long evolutionary process, subtype I-E was retained, while subtype I-F selectively degenerated in Cronobacter species and was even lost in the major Cronobacter pathovars. Moreover, significantly higher CRISPR activity was observed in plant-associated species C. dublinensis than in the virulence-related species C. sakazakii and C. malonaticus Similar spacers of CRISPR arrays were rarely found among species, suggesting intensive change through adaptive acquisition and loss. Differentiated CRISPR activity appears to be the product of environmental selective pressure and might contribute to the bidirectional divergence and speciation of Cronobacter IMPORTANCE This study reports the evolutionary history of Cronobacter under the selective pressure of the CRISPR-Cas system. One CRISPR-Cas system in Cronobacter is important for maintaining genome homeostasis, whereas two types of systems may be redundant and not conducive for acquiring beneficial DNA for