WorldWideScience

Sample records for chilblains

  1. Chilblain-like leukaemia cutis.

    Science.gov (United States)

    Tran, Chi; McEwen, Gary; Fraga, Garth Robert

    2016-01-01

    Chilblain, also known as pernio, is an abnormal inflammatory response to cold, moist environmental conditions. Persistent or atypical lesions should prompt investigation to exclude underlying systemic illness. We describe a case of acute myeloid leukaemia that presented with chilblain-like leukaemia cutis. PMID:27095810

  2. Cold Injury and Perniosis (Chilblain

    Directory of Open Access Journals (Sweden)

    Tuba Tulay Koca

    2015-12-01

    Full Text Available Perniosis (chilblain is inflammatory cutaneous lesions located on acral surfaces (fingers, toes, nose, aurikula which present in association with cold exposure. They can appear as an idiopathic (primary dermatosis or with an underlying autoimmune disease (secondary. The primary or idiopathic form is not associated with an underlying disease and is clinically indistinguishable from the secondary form. The secondary form is associated with an underlying condition such as connective tissue disease, monoclonal gammopathy, cryoglobulinemia, or chronic myelomonocytic leukemia. Histopathology cannot accurately help distinguish the primary from secondary forms of chilblains. This review aims to raise the awareness of perniosis to avoid excessive investigation and anxiety and to help patients with only appropriate simple advice and treatment. [Archives Medical Review Journal 2015; 24(4.000: 463-471

  3. Cold Injury and Perniosis (Chilblain)

    OpenAIRE

    Tuba Tulay Koca; Tolga Baglan; Gulbahar Sarac; Aydin Arslan

    2015-01-01

    Perniosis (chilblain) is inflammatory cutaneous lesions located on acral surfaces (fingers, toes, nose, aurikula) which present in association with cold exposure. They can appear as an idiopathic (primary) dermatosis or with an underlying autoimmune disease (secondary). The primary or idiopathic form is not associated with an underlying disease and is clinically indistinguishable from the secondary form. The secondary form is associated with an underlying condition such as connective tissue d...

  4. Chilblain lupus erythematosus in an adolescent girl

    Directory of Open Access Journals (Sweden)

    Shikha Bansal

    2014-01-01

    Full Text Available Chilblain Lupus Erythematosus (CHLE is a rare form of cutaneous lupus erythematosus (LE, more frequently seen in middle aged females. It is characterized by erythematous to violaceous plaques over the acral areas induced by exposure to cold or drop in temperature unlike lesions of lupus erythematosus that worsen with sun exposure. Here, we present a case of chilblain lupus erythematosus in an adolescent girl with few unique features not previously reported.

  5. Equestrian chilblain: another outdoor recreational hazard.

    Science.gov (United States)

    Yang, Amy Y; Schwartz, Laurel; Divers, Allison K; Sternberg, Lauren; Lee, Jason B

    2013-05-01

    Herein, we describe two cases and review 14 cases of equestrian chilblain or 'equestrian cold panniculitis' in the literature. The first, a 23-year-old healthy female horse trainer, presented with burning nodular swelling on her lateral thighs. The second was a 34-year-old healthy woman with recurrent nodular eruption on the lateral thighs after horseback riding in the winter. Physical examination of both patients revealed erythematous to violaceous nodules with eczema craquelé-like changes. Laboratory workup for systemic and autoimmune connective tissue disease was negative. Punch biopsies from both patients showed a superficial and deep perivascular and periadnexal lymphocytic infiltrate with focal extension into the subcutaneous fat. Parakeratosis, subtle spongiosis and increased pandermal interstitial mucin were also present. Previously reported cases generally showed a similar clinical course and similar histopathologic findings. In contrast, our cases revealed increased pandermal interstitial mucin, resembling tumid lupus erythematosus. We aim to better characterize the histopathologic findings of equestrian chilblain and discuss its relationship to other cold-induced skin injuries and autoimmune connective tissue disease, namely lupus erythematosus. PMID:23432072

  6. Topical Nitroglycerine in Perniosis/Chilblains.

    Science.gov (United States)

    Verma, Prashant

    2015-01-01

    The treatment of perniosis is largely inadequate. The success rate of 0.2% nitroglycerine ointment is demonstrated in the present series. Twenty-two patients clinically diagnosed with severe perniosis were prescribed the topical vasodilator nitroglycerine. Digital photography and patient self-report of the clinical appearance, degree of irritation, and pain and soreness of the lesions were assessed on a 3-point scale to assess therapeutic response. A total of 18 of the 22 patients had regression of the lesions within the first week of treatment and complete regression in 2 weeks. Of these patients, 2 who experienced a relapse were successfully treated with another course of topical nitroglycerine. Two of 22 patients had regression of the lesions during the second week and complete regression in another week. Response was delayed in patients with a longer duration of disease. Topical 0.2% nitroglycerine ointment may be a promising alternative treatment option in perniosis. PMID:26380502

  7. Fingers that change color

    Science.gov (United States)

    ... cause fingers or toes to change color: Buerger disease Chilblains. Painful inflammation of small blood vessels. Cryoglobulinemia Frostbite Necrotizing vasculitis Peripheral artery disease Raynaud phenomenon. Sudden change in the ...

  8. Disease: H00291 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. F...l chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts... antibody production. In FCL, missense mutations in TREX1 that decrease its exonuclease activity were... described. The failure of DNA degradation can result in aberrant immune response. Immune system d...isease hsa04623 Cytosolic DNA-sensing pathway TREX1 [HSA:11277] [KO:K10790] cold and wet exposure

  9. Influence of manufacturing procedure on stability of Unguentum contra perniones preparations

    OpenAIRE

    Bošković Mirjana; Toskić-Radojičić Marija

    2005-01-01

    Background. Application of various technological procedures for the manufacture of officinal preparation ointment against chilblains (Unguentum contra perniones) produce essential variations in the quality and stability of the final product. Changing the sequence of admixing active substances into the ointment base indicated the presence of incompatibility between the active substances, as well as between the active substances and the ointment base components. The aim was to examine the influ...

  10. Influence of manufacturing procedure on stability of Unguentum contra perniones preparations

    Directory of Open Access Journals (Sweden)

    Bošković Mirjana

    2005-01-01

    Full Text Available Background. Application of various technological procedures for the manufacture of officinal preparation ointment against chilblains (Unguentum contra perniones produce essential variations in the quality and stability of the final product. Changing the sequence of admixing active substances into the ointment base indicated the presence of incompatibility between the active substances, as well as between the active substances and the ointment base components. The aim was to examine the influence of various technological manufacturing procedures on quality and stability of the preparation. Methods. Changes in the samples of ointments and aqueous solutions of active substances were analyzed microscopically. Results. Microscopic analysis of hydrosoluble active substance solutions demonstrated destruction of ichthammol, induced by an acidic medium due to the dissolution of tannin and resorcinol, which is well known from the literature. It also demonstrated the destruction of tannin and resorcinol in aqueous solution, which had not been described in the literature. Application of the prescribed procedure for the manufacturing of ointment against chilblains, conceals the incompatibility reactions due to a slow dissolution of the tannin suspended in the officinal ointment base Unguentum cera lanae. Admixture of an ready-made aqueous solution of tannin caused an instant contact between ichthammol and the acidic medium, which caused the destruction or the complete absence of the formation of emulsion droplets. The problem of incompatibility reactions between lanolin alcohols in the ointment base and ichthammol and resorcinol, as well as the reaction between Peruvian balsam and sulfur from the ichthammol sulfate ion was observed. Numerous incompatibility reactions of ointment against chilblains, components indicated that it was necessary to introduce alterations in both the qualitative and quantitative composition of the preparation. Conclusion. Excipient

  11. Type I interferonopathies in pediatric rheumatology.

    Science.gov (United States)

    Volpi, Stefano; Picco, Paolo; Caorsi, Roberta; Candotti, Fabio; Gattorno, Marco

    2016-01-01

    Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy. PMID:27260006

  12. The Use of Calcium Channel Blockers in Skin Diseases

    Directory of Open Access Journals (Sweden)

    Özge Uzun

    2013-05-01

    Full Text Available Calcium channel blockers are a group of drugs often used to treat cardiovascular diseases, such as hypertension, angina, peripheral vascular disorders and some arrhythmias. These drugs may suppress the growth and proliferation of vascular smooth muscle cells and fibroblasts, and inhibit the synthesis of extracellular-matrix proteins,such as collagen, fibronectin, proteoglycans. Some calcium channel blockers also have immunomodulatory or dysregulatory effects on lymphocytes and can suppress superoxide generation and phagocytic activity of neutrophils. Moreover, mast cell degranulation and platelet aggregation may also be impaired. On account of these properties, calcium channel blockers have also been used for the prevention and treatment of various dermatologic diseases. In this review, we evaluated the use of calcium channel blockers in various dermatologic diseases, such as Raynaud’s phenomenon, chilblains, chronic anal fissures, vulvodynia, keloids and burn scars, calcinosis cutis, and leiomyoma.

  13. Skin conditions in figure skaters, ice-hockey players and speed skaters: part II - cold-induced, infectious and inflammatory dermatoses.

    Science.gov (United States)

    Tlougan, Brook E; Mancini, Anthony J; Mandell, Jenny A; Cohen, David E; Sanchez, Miguel R

    2011-11-01

    Participation in ice-skating sports, particularly figure skating, ice hockey and speed skating, has increased in recent years. Competitive athletes in these sports experience a range of dermatological injuries related to mechanical factors: exposure to cold temperatures, infectious agents and inflammation. Part I of this two part review discussed the mechanical dermatoses affecting ice-skating athletes that result from friction, pressure, and chronic irritation related to athletic equipment and contact with surfaces. Here, in Part II, we review the cold-induced, infectious and inflammatory skin conditions observed in ice-skating athletes. Cold-induced dermatoses experienced by ice-skating athletes result from specific physiological effects of cold exposure on the skin. These conditions include physiological livedo reticularis, chilblains (pernio), Raynaud phenomenon, cold panniculitis, frostnip and frostbite. Frostbite, that is the literal freezing of tissue, occurs with specific symptoms that progress in a stepwise fashion, starting with frostnip. Treatment involves gradual forms of rewarming and the use of friction massages and pain medications as needed. Calcium channel blockers, including nifedipine, are the mainstay of pharmacological therapy for the major nonfreezing cold-induced dermatoses including chilblains and Raynaud phenomenon. Raynaud phenomenon, a vasculopathy involving recurrent vasospasm of the fingers and toes in response to cold, is especially common in figure skaters. Protective clothing and insulation, avoidance of smoking and vasoconstrictive medications, maintaining a dry environment around the skin, cold avoidance when possible as well as certain physical manoeuvres that promote vasodilation are useful preventative measures. Infectious conditions most often seen in ice-skating athletes include tinea pedis, onychomycosis, pitted keratolysis, warts and folliculitis. Awareness, prompt treatment and the use of preventative measures are

  14. Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review%Aicardi-Goutières综合征一家系并文献复习

    Institute of Scientific and Technical Information of China (English)

    季涛云; 王静敏; 李慧娟; 赵丽荣; 桑艳; 吴晔

    2014-01-01

    Objective Aicardi-Goutières syndrome (AGS) is a rare early-onset genetic encephalopathy.The aim of this study was to explore the clinical,imaging and genetic features of a family with AGS,which may contribute to definite diagnosis,genetic counseling and prenatal diagnosis of this rare disease in China.We summarized the characteristics of AGS through reviewing related references.Method Information of the proband and other family members as well as their DNA samples were collected.All the exons and exon-intron boundaries of pathogenic genes were amplified with PCR and were directly sequenced for genomic DNA.And we reviewed the reports of 252 cases.Result (1) The proband was a 6 years plus 7 months old boy.He presented with severe developmmental delay and abnormal posture mainly as torsion of limbs.By physical examination he was found to have some chilblain-like skin lesions at the end of limbs and microcephaly.The CT scan of his head displayed multiple calcification,especially in the basal ganglia.The MRI of his head displayed a hypointense signal in T1-weighted (T1W) images and a hyperintense signal in T2-weighted (T2W) in cerebral white matter and cystic lesions in temporal white matter.The younger sister of the proband presented with chilblain-like skin lesions on her face and the end of limbs had no developmental delay.The CT of her head showed multiple calcification,especially in the basal ganglia.(2) Two mutations were identified in TREX1,one was a novel nonsense mutation (c.294_295insA),and the other was a known pathogenic mutation (c.868_885del).(3) The common performances of AGS included mental retardation [92% (231/252)],dystonia [75% (189/252)],microcephaly [63% (159/252)],chilblain [42% (106/252)],basal ganglia calcification [100% (252/252)],brain atrophy [88% (222/252)] and cerebral white matter lesions [86% (217/252)].TREX1 [38% 96/252)] and RNASEH2B [23% (58/252)] are the most common pathogenic genes.Conclusion We determined

  15. The Role of Various Stressors in the Trigger Mechanism of Raynaud's Disease (Hemorheological and Vascular Reactions

    Directory of Open Access Journals (Sweden)

    Mantskava M.M.

    2014-05-01

    Full Text Available The emergence and spread of stress reactions are provided by the blood circulation system. In its turn, the adequacy of blood circulation depends on the hemorheological and vascular mechanisms. The changeability of their properties appears to be the basis of the increasing of stress stages. From the viewpoint of biophysical reactions, any change and movement occur with the expenditure and accumulation of energy. Higher level of adaptation energy waste and secondary level take place, when a small stressor entails a small expenditure. There is a maximum possible rate of adaptive energy consumption and at this maximum the organism cannot cope with any additional stimulus. At the same time adaptive and stress diseases develop. Let’s consider the duration and manifestation of Raynaud's disease from the perspective of adaptation diseases and diseases of the third grade, which appears to be the cause of the double stress effect - cold and emotional- physical and psychic. Total of 97 patients with Raynaud's disease were examined. For a new vision of the problem it was necessary to find out how the streessors of various nature impact the hemoreheological status and vascular resistance. For this purpose all the patients were examined for a resistance index of resistive arteries of the hand and the indices of erythrocyte aggregation and deformability. The patients were divided into four subgroups. The first subgroup – the patients after chilblain, the second subgroup – the patients with psychic strerssor, the third subgroup – the patients with prolonged chronic stress, and the fourth subgroup – the patients without the differentiation of the stressors. According to the obtained results, it is obvious that at cold and emotional stress (I and II subgroups the hemorheological and vascular parameters are changed. However, this change (hemorheological and vascular is more pronounced at chronic emotional stress (III subgroup as compared both to the

  16. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

    Science.gov (United States)

    Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M A; Gornall, Hannah L; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M; Bahi-Buisson, Nadia; Bailey, Kathryn M; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward M; Bloom, Miriam; Burlina, Alberto B; Carpanelli, Maria Luisa; Carvalho, Daniel R; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E; Chitayat, David A; Collins, Abigail E; Sierra Corcoles, Concepcion; Cordeiro, Nuno J V; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C; D'Arrigo, Stefano; De Goede, Christian G E L; De Laet, Corinne; De Waele, Liesbeth M H; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C; Fazzi, Elisa; Ferrie, Colin D; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D; Kirk, Edwin P; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J; Lin, Jean-Pierre S-M; Linnankivi, Tarja; Mackay, Mark T; Marom, Daphna R; Marques Lourenço, Charles; McKee, Shane A; Moroni, Isabella; Morton, Jenny E V; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J; Olivieri, Ivana; Ostergaard, John R; Pérez-Dueñas, Belén; Prendiville, Julie S; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A; Sinha, Gyanranjan P; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I; Straussberg, Rachel; Swoboda, Kathryn J; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y; te Water Naude, Johann; Wee Teik, Keng; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B; Wassmer, Evangeline; Webb, Hannah J; Whitehouse, William P; Whitney, Robyn N; Zaki, Maha S; Zuberi, Sameer M; Livingston, John H; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I

    2015-02-01

    Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutières syndrome-related genes

  17. Ethnophytotherapeutical research in the high Molise region (Central-Southern Italy

    Directory of Open Access Journals (Sweden)

    Lucchese Fernando

    2008-03-01

    Full Text Available Abstract Background In the years 2003–2005 research was carried out concerning ethno-medicine in the high Molise (central- southern Italy, a region that has been the object of very little investigation from the ethnobotanical point of view. Upper Molise is a continuation of the mountain profiles of the Abruzzi Appenines: a series of hills, steep slopes and deep fluvial valleys making communications difficult. Primordial traditions (e.g. harvest feasts are typical of the region. Methods Field data were collected through open interviews in the field. These were conducted on both an individual and group level, fresh plants gathered from surrounding areas being displayed. In other cases, individual interviews were conducted by accompanying the person involved to the places where they perform their activities (for example, in the woods with woodcutters, kitchen gardens and fields with housewives, pastures with shepherds, etc.. In total 54 individuals were interviewed. Results Data of 70 taxa belonging to 39 families were gathered. Among the species, 64 are used in human therapy, 5 as insect repellents, 11 in veterinary medicine, 1 to keep eggs and cheeses and 4 for magic purposes. The most important findings in ethno-medicine relate to the lichen Lobaria pulmonaria (L. Hoffm. (wounds and to some vascular plant species: Asplenium trichomanes L. and Ceterach officinarum Willd. (to regularize menstruation, Cyclamen hederifolium (chilblains, Centaurium erythraea Rafn. and Pulmonaria apennina Cristof. & Puppi (bruises, while in the ethno-veterinary field, we have Valeriana officinalis L. (wounds sustained by mules. Also worthy of note, given the isolation of the area, is the number of plants used to protect foodstuffs from parasites, among which Allium sativum L. and Capsicum frutescens L. Conclusion The research revealed a deep-rooted and widespread habit of husbanding the family's resources. Whilst isolation and snowfalls contributed to the widespread

  18. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    Science.gov (United States)

    Crow, Yanick J.; Chase, Diana S.; Schmidt, Johanna Lowenstein; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S.; Abdel-Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M.; Bahi-Buisson, Nadia; Bailey, Kathryn M.; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W.; Bernard, Geneviève; Bianchi, Marika; de Villemeur, Thierry Billette; Blair, Edward M.; Bloom, Miriam; Burlina, Alberto B.; Carpanelli, Maria Luisa; Carvalho, Daniel R.; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E.; Chitayat, David A.; Collins, Abigail E.; Corcoles, Concepcion Sierra; Cordeiro, Nuno J.V.; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C.; D’Arrigo, Stefano; De Goede, Christian G.E.L.; De Laet, Corinne; De Waele, Liesbeth M.H.; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C.; Fazzi, Elisa; Ferrie, Colin D.; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R.; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D.; Kirk, Edwin P.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J.; Lin, Jean-Pierre S.-M.; Linnankivi, Tarja; Mackay, Mark T.; Marom, Daphna R.; Lourenço, Charles Marques; McKee, Shane A.; Moroni, Isabella; Morton, Jenny E.V.; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J.; Olivieri, Ivana; Ostergaard, John R.; Pérez-Dueñas, Belén; Prendiville, Julie S.; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A.; Sinha, Gyanranjan P.; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I.; Straussberg, Rachel; Swoboda, Kathryn J.; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y.; Naude, Johann te Water; Teik, Keng Wee; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S.; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B.; Wassmer, Evangeline; Webb, Hannah J.; Whitehouse, William P.; Whitney, Robyn N.; Zaki, Maha S.; Zuberi, Sameer M.; Livingston, John H.; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I.

    2015-01-01

    Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome

  19. Single-Port Microthoracoscopic Sympathicotomy for the Treatment of Primary Palmar Hyperhidrosis: an Analysis of 56 Consecutive Cases.

    Science.gov (United States)

    Shi, Hongcan; Shu, Yusheng; Shi, Weiping; Lu, Shichun; Sun, Chao

    2015-08-01

    The objective of this study is to investigate the feasibility and safety of single-port microthoracoscopic thoracic sympathicotomy for the treatment of palmar hyperhidrosis. Between January 2008 and March 2013, 56 patients (36 male, 20 female; mean age 25.6 years, age range 16-39 years) underwent single-port microthoracoscopic thoracic sympathicotomy for palmar hyperhidrosis. Nineteen patients (33.9 %) had moderate palmar hyperhidrosis that could thoroughly wet a handkerchief, and 37 (66.1 %) had severe palmar hyperhidrosis with sweat dripping from the palm. Eight patients (14.3 %) had a positive family history, 34 (60.7 %) had plantar hyperhidrosis, 22 (39.3 %) had axillary hyperhidrosis, and 20 (35.7 %) had both plantar and axillary hyperhidrosis. In addition, 21 patients (37.5 %) had palmar pompholyx, five (8.9 %) had keratolysis exfoliativa, 10 (17.9 %) had chilblains, and nine (16.1 %) had palmar rhagades. A single 10-mm skin incision was made in the third intercostal space at the anterior axillary line, posterior to the pectoralis muscle. A 5-mm microthoracoscope and a 3-mm microelectrocautery hook were inserted through a single port into the thoracic cavity. The third and fourth ribs were identified, and the sympathetic chain was cut using the microelectrocautery hook. The bypassing nerve fibers, such as the Kuntz nerve fiber bundle, were ablated for 2-3 cm along the surface of the rib. The palmar temperature was recorded before and after sympathicotomy. All 56 procedures were completed using single-port microthoracoscopy. No postoperative complications such as hemorrhage, wound infection, hemopneumothorax, bradycardia, or Horner's syndrome were observed. Bilateral procedures were completed in 20-56 min (mean 30 min). The palmar temperature increased by 2.2 ± 0.3 °C after surgery. The postoperative hospital stay was 1-4 days (mean 2.5 days). Mild compensatory sweating of the back and thigh occurred in five patients (8.9 %) at 2-3

  20. 新生儿红斑狼疮7例报告并87例文献复习%Neonatal lupus erythematosus: a report of 7 cases and review of 87 cases of China

    Institute of Scientific and Technical Information of China (English)

    李玲; 董光富; 韩凤珍; 崔阳; 石韫珍; 张晓

    2011-01-01

    8 cases of atrioventricular blockage (AVB) (3 degree Ⅰ , 3 degree Ⅱ and 2 degree Ⅲ ) and 5 cases of right bundle branch block cases (RBBB). Nine cases had anatomical abnormality including 5 cases of atrial septal defect (ASD), 2 cases of ventricular septal defect (VSD) and 2 cases of atrial enlargements. Forty-four cases had hematological problems including 28 with thrombocytopenia, 11 with leukocytopenia and 34 with anemia.Thirty cases had hepatic abnormality, including 24 liver dysfunction, 22 hepatomegaly, 6 splenomegaly and 3 cholestasis. Three cases had nephropathy; 3 had elevated creatine kinase; 2 had nervous disorder. Among the 94 cases, 86 (91.5%) were positive for anti-SSA, 51 (54. 3% ) anti-SSB, 16 anti-ds-DNA, 14 antiU1 -RNP, 13 anti-Sm ( + ), 6 anti-RNP and 4 anti-rRNP( + ). Among the corresponding mothers, 39 cases (44. 8% ) were asymptomatic before pregnancy, 35 had SLE, 5 had SCLE, 3 had Sjogren syndrome, 2 had chilblain, photosensitivity and arthralgia, respectively, 1 had rheumatoid arthritis and 1 had psoriasis.During pregnancy, 8 mothers developed SLE. Totally 48 mothers ( 51.1% ) suffered from LE. Together with 15 mothers who had transient skin rash during the pregnancy, there were 23 mothers (59%) who had new clinical manifestation among the 39 asymptomatic mothers. Twenty NLE cases accepted glucocorticoid treatment, 4 of them were treated with intravenous immunoglobulin. Sixty-eight cases were followed up for upto 12 years, 58 cases were healthy, 5 cases improved and 3 died. Two cases still had grade Ⅲ AVB without pacemaker. Conclusion NLE is a rare acquired autoimmune disease. Although nearly half of the mothers were asymptomatic before pregnancy, more than half of them developed LE or other symptoms. The clinical presentations in Chinese cases include a transient rash, cardiac lesion while grade Ⅲ AVB was rare,hematological changes and liver impairments which were common but not serious. Anti-SSA and/or anti-SSB were the most