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Sample records for pseudostertagia bullosa nematoda

  1. Epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Patra A

    2002-11-01

    Full Text Available A case of recurrent vesiculobullous eruptions over shins, clinically diagnosed as epidermolysis bullosa of pretibial variety confirmed by electron microscope is reported here as a rare variety of localised epidermolysis bullosa (EB.

  2. Epidermolysis bullosa

    DEFF Research Database (Denmark)

    Firing, Camilla; Bygum, Anette

    2018-01-01

    Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited...

  3. [Epidermolysis bullosa].

    Science.gov (United States)

    García Pérez, A

    1999-01-01

    The epidermolysis bullosa are a group of genodermatoses in which there is congenital fragility of the skin which produce blisters with the least of traumas. The group includes up to thirty clinical-genetical entities. They are classified according to the level where the blister is found into simplex or epidermolytic (intraepitelial blister), junctional (blister in the dermoepidermal junction) and dystrophic or dermolytic (subepidermal blister) epidermolysis bullosa. The symptoms, classic or Mendelian genetics and the recent findings in the most frequent forms of each one of these groups are reviewed. In most of them, the gene that produces the mutations and the chromosome in which its locus is found are known. In the simplex forms, the disorders lies in the genes that codify the different keratins. In the junctional ones, mutations are found in the laminin genes that act in the development of the anchoring filaments or in those of the other components of the basement membrane. In the dystrophic ones, which are the most serious, the mutations affect the collagen VII gene that codify the development of the anchoring fibrils. There is no treatment for any of the forms of epidermolysis bullosa. It is possible that the future advances in genetic engineering can contribute to their prophylaxis.

  4. Nematoda: Dorylaimidae

    African Journals Online (AJOL)

    1994-12-05

    Dec 5, 1994 ... nematodes from the Galapagos Archipelago II: Redescription of. Aporcelaime/lus obtusicaudatus (Bastian, 1865) Altherr, 1968, with review of similar species and a nomenclature for the vagina m Dorylaimida (Nematoda) . Bull. Inst. Roy. Sci. nat. Belg. BioI. 63: 1-22. HEYNS, J. & KRUGER, lC. de W. 1983.

  5. Epidermolysis bullosa pruriginosa

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    Yesudia P

    2000-01-01

    Full Text Available Epidermolysis bullosa pruriginosa is a recently described variant of epidermolysis bullosa dystrophica. It is characterised by pruritic nodular prurigo like lesions, milia and with a histopathology of a subepidermal blister. We report 3 cases of this new variant.

  6. Acquired epidermolysis bullosa

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    Maricel Sucar Batista

    2015-12-01

    Full Text Available Epidermolysis bullosa is a group of diseases or skin disorders genetically transmitted and it is characterized by the appearance of bullae, ulcers and skin wounds. It usually appears at birth or in the first months of life. This is a case of a 72-year-old female patient who comes to the dermatology department with skin lesions of 6 months of evolution. A skin biopsy was performed, taking a sample for direct and indirect immunofluorescence. Acquired epidermolysis bullosa of unknown etiology was diagnosed. Treatment was started with low-dose colchicine to increase it later, according to the patient’s tolerance and disease progression.

  7. Epidermolysis bullosa acquisita

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    V Laxmi Nair

    1990-01-01

    Full Text Available A 26 year old male with epidermolysis bullosa acquisita presenting as severe erosive lesions in the mouth, anterior nares and vesico-bullous lesions over the body arising spontaneously or following trauma is reported. There was no underlying systemic disease and he responded to oral administration of vitamin E.

  8. Pretibial Epidermolysis Bullosa

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    Joshi Arun

    2002-01-01

    Full Text Available A 34 year old Nepalese male presented with 10 year history of recurrent itchy erythematous papules, plaques and vesicles healing with scarring and milia on his shins. He also had dystrophic toenails since childhood. Family and past history were not contributory. Histopathological findings were consistent with the clinical diagnosis of pretibial epidermolysis bullosa (PEB. The patient was treated with oral vitamin E with some relief.

  9. Epidermolysis bullosa pruriginosa

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    Puri Suruchi

    2005-01-01

    Full Text Available Epidermolysis bullosa (EB pruriginosa is a rare distinct variant of dystrophic EB. It is characterized by extremely pruritic, lichenified or nodular lesions predominantly over legs, milia formation and albopapuloid lesions on the trunk. Toe nail dystrophy is a consistent finding in adult patients. The rarity of intact blisters, prominent nature of some of the scars and the marked lichenification with severe pruritus lead to a confusion with commoner disorders, like lichen simplex chronicus, lichen planus hypertrophicus and dermatitis artefacta. We present a rare and interesting case of EB pruriginosa where the diagnosis was confirmed with help of characteristic histopathology.

  10. Junctional Epidermolysis Bullosa

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    Chuan-Hong Kao

    2006-10-01

    Full Text Available Epidermolysis bullosa (EB encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks' gestation, who was born with a few blisters with erosions and who rapidly developed extensive blistering of the skin. Histopathology revealed subepidermal blistering. Electron microscopy confirmed the cleavage of epidermis from dermis within the lamina lucida. Junctional EB was the diagnosis. The patient was discharged after hospitalization for 28 days. The development of new blisters with erosions were gradually improved after AQUACEL® Ag dressing, and the general condition was much better than at admission. The patient likely has a subtype of junctional EB termed generalized atrophic benign EB that clinically improves with age. He has the potential to father children and has a normal life expectancy.

  11. Inherited epidermolysis bullosa

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    Fine Jo-David

    2010-05-01

    Full Text Available Abstract Inherited epidermolysis bullosa (EB encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

  12. [Epidermolysis bullosa acquisita].

    Science.gov (United States)

    Caux, Frédéric

    2010-10-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal bullous disease with autoimmunity to the type VII collagen which is the major component of anchoring fibrils. Clinical manifestations of the classical EBA include skin fragility, blisters over the trauma-prone surfaces and milium cysts. Other presentations of EBA have been reported: mucosal predominant appearance reminiscent of cicatricial pemphigoid, bullous pemphigoid-like presentation and IgA-EBA. Making a definitive diagnosis of EBA could be difficult because specialized tests available in only some laboratories are necessary to confirm the clinical suspicion: immunoelectron microscopy demonstrating immune deposits on anchoring fibrils and immunoblotting or enzyme-linked immunosorbent assay (Elisa) detecting autoantibodies recognizing the type VII collagen. EBA frequently is associated with Crohn's disease and an inflammatory bowel disease must be ruled out in patients with EBA and abdominal manifestations. EBA potentially is serious, has usually a chronical evolution and is difficult to treat.There are no guidelines for treatment of EBA, which is adapted to clinical severity and include dapsone, cyclosporine and rituximab. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  13. Newborn with severe epidermolysis bullosa

    DEFF Research Database (Denmark)

    Boesen, Martin Lehmann; Bygum, Anette; Hertz, Jens Michael

    2016-01-01

    Epidermolysis bullosa (EB) is an inherited skin disease with four main subtypes that cannot be distinguished clinically at birth. All subtypes may present with widespread life-threatening blisters and fragile skin, making treatment and handling of the newborn with EB challenging. The prognosis...

  14. Pyloric atresia associated with epidermolysis bullosa

    Energy Technology Data Exchange (ETDEWEB)

    Garcia Hernandez, J.B.; Orense, M.; Celorio, C.; Canga, C.

    1987-07-01

    Since the first reported case of pyloric atresia and epidermolysis bullosa in 1977 by Korber and Glasson, this association has been firmly established. We present a new case giving particular emphasis to the theory that pyloric atresia is secondary to the primary disease epidermolysis bullosa.

  15. Epidermolysis bullosa dystrophica inversa: A case report

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    Enver Turan

    2012-09-01

    Full Text Available Epidermolysis bullosa (EB is a heterogeneous group of genetically determined, mechanobullous disorders characterized by blister formation in response to mechanical trauma. Three major subgroups, simplex, junctional, and dystrophic EB, contain more than 20 genetically and clinically distinct subtypes. Epidermolysis bullosa dystrophica inversa (DEB-I, which is a rarely seen form of epidermolysis bullosa, shows autosomal recessive inheritance and it is characterized by bulla formation and erosions on flexural areas, frequently affecting the oral and esophageal mucosa. Blistering rash occurs in the newborn period, which in early childhood heals with atrophic scars. DEB-I is rarely seen in adults period, with only a few case reports in the literature. In the present case, we described a patient diagnosed with epidermolysis bullosa dystrophica inversa due to presence of typical clinical features and histopathological and immunofluorescence findings. J Clin Exp Invest 2012; 3 (3: 412-414Key words: Blistering disorders, mechanobullous, epidermolysis bullosa

  16. Recessive Dystrophic Epidermolysis Bullosa with Congenital Cataract

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    S M Sharmughan Pillai

    1988-01-01

    Full Text Available Case _ having recessive dystrophic epidermolysis bullosa with severe blistering,scarring, inilia, mucosal ulcerations, corneal involvement, teeth anomalies and deformities of hands and feet had the unusual feature of congenital cortical cataract.

  17. Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.

    Science.gov (United States)

    Boria, F; Maseda, R; Martín-Cameán, M; De la Calle, M; de Lucas, R

    2017-12-01

    Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Care of epidermolysis bullosa in Ireland.

    LENUS (Irish Health Repository)

    Watson, Rosemarie

    2012-02-01

    Advances in the medical care of epidermolysis bullosa (EB) have led to the development of National Service Centers for EB in many countries worldwide. The exemplary model of care to children and adults with EB in the United Kingdom, combined with the knowledge that people with EB were travelling to the United Kingdom for treatment, encouraged the development of the Irish national service. Dystrophic Epidermolysis Bullosa Research Association of Ireland, founded in 1988 played a pivotal role in this development.

  19. Epidermolysis bullosa in animals: a review.

    Science.gov (United States)

    Medeiros, Gildenor X; Riet-Correa, Franklin

    2015-02-01

    Epidermolysis bullosa (EB) is a hereditary mechanobullous disease of animals and humans, characterized by an extreme fragility of the skin and mucous membranes. The main feature of EB in humans and animals is the formation of blisters and erosions in response to minor mechanical trauma. Epidermolysis bullosa is caused by mutations in the genes that code for structural proteins of the cytoskeleton of the basal keratinocytes or of the basement membrane zone. Based on the ultrastructural levels of tissue separation, EB is divided into the following three broad categories: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. Human types of EB are divided into several subtypes based on their ultrastructural changes and the mode of inheritance; subtypes are not fully established in animals. In humans, it is estimated that EB affects one in 17,000 live births; the frequency of EB in different animals species is not known. In all animal species, except in buffalo with epidermolysis bullosa simplex, multifocal ulcers are observed on the gums, hard and soft palates, mucosa of the lips, cheek mucosa and dorsum of the tongue. Dystrophic or absent nails, a frequent sign seen in human patients with EB, corresponds to the deformities and sloughing of the hooves in ungulates and to dystrophy or atrophy of the claws in dogs and cats. This review covers aspects of the molecular biology, diagnosis, classification, clinical signs and pathology of EB reported in animals. © 2014 ESVD and ACVD.

  20. Dystrophic epidermolysis bullosa: a review

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    Shinkuma S

    2015-05-01

    Full Text Available Satoru Shinkuma Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan Abstract: Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and malignancy. The disease is usually diagnosed by immunofluorescence mapping and/or transmission electron microscopy and subsequently subclassified into one of 14 subtypes. This review provides practical knowledge on the disease, including new therapeutic strategies. Keywords: type VII collagen, anchoring fibril, subtypes, revertant mosaicism, treatment, gene therapy 

  1. Anesthetic consideration in dystrophic epidermolysis bullosa

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    A S Narejo

    2016-01-01

    Full Text Available Epidermolysis bullosa is a group of inherited rare skin disease, characterized by bullae formation in the skin or mucous membranes. The fundamental abnormality is collagen degeneration leads to splitting of various epidermal layers. Dystrophic epidermolysis bullosa (DEB is one of the major forms of epidermolysis bullosa. These patients often admitted to the hospital for corrective surgeries, change of dressing, contracture release, and skin grafting. Anesthetic management of these cases is always a challenge. We are reporting a case of 5-year-old boy diagnosed as a case of DEB scheduled for upper lip contracture release, skin grafting and debridement of nonhealing scars under anesthesia. In this case, we have focused mainly on the anesthetic management, preparation of the monitoring, transportation, difficulties in establishing the venous accesses, and airway management.

  2. Substantiating atypical phenotypes of epidermolysis bullosa

    NARCIS (Netherlands)

    Gostynska, Katarzyna Barbara

    2016-01-01

    In dit proefschrift worden studies beschreven die zich concentreren op de moleculaire diagnostiek van epidermolysis bullosa (EB). De studies zijn tot stand gekomen door de samenwerking van het Centrum voor Blaarziekten van de afdelingen Dermatologie en Genetica van het Universitair Medisch Centrum

  3. Recessive Epidermolysis Bullosa simplex- A case report

    African Journals Online (AJOL)

    Ademu

    Abstract: Background:Epidermolysis bullosa simplex (EBS) is characterized by intraepidermal blister formation, most commonly appearing in early infancy. Many variants of EBS exist; the four most common variants are inherited in an autosomal dominant fashion. The recessive forms are rare and less reported in our ...

  4. Recessive Epidermolysis Bullosa simplex- A case report

    African Journals Online (AJOL)

    Ademu

    Inherited epidermolysis bullosa (EB) is a heterogeneous group of mechanobullous disorders characterized by painful blister formation as a result of minor trauma to the skin. It has been grouped into three major types according to the level of the blister formation: simplex, junctional, or dystrophic.1 EB simplex has been sub ...

  5. Phenytoin therapy in recessive dystrophic epidermolysis bullosa

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    Rege V

    1995-01-01

    Full Text Available A case of recessive dystrophic epidermolysis bullosa in a 17-year-old boy is described. The diagnosis was based on clinical and histophathological findings. The patient is being treated with 200-300 mg of phenytoin sodium per day maintaining a blood level of 13-15 mg/litre and is under remission for 1 year.

  6. Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

    NARCIS (Netherlands)

    van den Akker, Peter C.; Nijenhuis, Albertine; Hofstra, Robert M. W.; Jonkman, Marcel F.; Pasmooij, Anna M. G.; Meijer, G.

    Background: Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease distribution. This "natural gene therapy" phenomenon long

  7. Antigen mapping in hereditary epidermolysis bullosa

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    Srinivas C

    1998-01-01

    Full Text Available Standard immunofluorescence tests are not positive in the various inherited epidermolysis bullosa (EB. Using antibodies to known antigens present in the basement membrane zone, antigen mapping can be done by immuno fluorescence, to determine the level of blistering and establish the diagnosis. We report three cases of junctional EB and one case of dystrophic EB in whom the diagnosis was confirmed by antigen mapping.

  8. Molecular determinants archetypical to the phylum Nematoda

    OpenAIRE

    McCarter James P; Rychlewski Leszek; Wyrwicz Lucjan; Wang Zhengyuan; Abubucker Sahar; Martin John; Yin Yong; Wilson Richard K; Mitreva Makedonka

    2009-01-01

    Abstract Background Nematoda diverged from other animals between 600–1,200 million years ago and has become one of the most diverse animal phyla on earth. Most nematodes are free-living animals, but many are parasites of plants and animals including humans, posing major ecological and economical challenges around the world. Results We investigated phylum-specific molecular characteristics in Nematoda by exploring over 214,000 polypeptides from 32 nematode species including 27 parasites. Over ...

  9. Triple-Divided Concha Bullosa: A New Anatomic Variation

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    Turhan San

    2013-01-01

    Full Text Available In recent years, with the widespread use of imaging techniques such as paranasal sinus computed tomography (CT, many variations of nasal turbinates have been described. One of these variations known as concha bullosa (CB is pneumatization of nasal turbinates. CB is the most frequently encountered anatomical variations of the middle turbinate. The term of septated concha bullosa has been described recently and it is an uncommon pneumatization anomaly of the middle turbinate. There has not been any study that correlates the number of septations and the presence of sinonasal pathologies. We hereby present a case of triple septated concha bullosa that has not been reported so far.

  10. Anaesthesic management in patients with epidermolysis bullosa

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    Sergeja Kozar

    2012-08-01

    Full Text Available Epidermolysis bullosa (EB is a rare genetic disease, characterized by blistering of skin and mucous membranes following minor trauma. Scar formation as well as systemic consequences (anemia, hypoproteinemia, cardiac disorders, cancer are the hallmarks of disease. This case report describes a 34-year-old patient with dystrophic form of EB, who required urgent surgical intervention due to arterial bleeding in the groin region. A detailed description of preoperative assessment, anaesthetic implications (monitoring, airway maintenance, general anaesthesia as well as postoperative analgesia are discussed bellow.

  11. Epidermolysis bullosa pruriginosa - Report of three cases

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    Sengupta Sujata

    2005-03-01

    Full Text Available Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, is characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions, appearing at birth or later. Scarring and prurigo are most prominent on the shins. Treatment is unsatisfactory. We report three such cases: two of them first cousins, are described with history of blisters since childhood, followed by intensely pruritic lesions predominantly on the shins, and dystrophy of toenails, but no albopapuloid lesions or milia. Intact blisters were present in one case, and excoriations were seen in the other two. All of them showed encouraging response to cryotherapy.

  12. Genetics Home Reference: epidermolysis bullosa with pyloric atresia

    Science.gov (United States)

    ... PA junctional epidermolysis bullosa with pyloric atresia PA-JEB Related Information How are genetic conditions and genes ... HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, ...

  13. PDE4 Inhibition as Potential Treatment of Epidermolysis Bullosa Acquisita

    NARCIS (Netherlands)

    Koga, Hiroshi; Recke, Andreas; Vidarsson, Gestur; Pas, Hendri H.; Jonkman, Marcel F.; Hashimoto, Takashi; Kasprick, Anika; Ghorbanalipoor, Saeedeh; Tenor, Hermann; Zillikens, Detlef; Ludwig, Ralf J.

    2016-01-01

    Pemphigoid diseases such as epidermolysis bullosa acquisita (EBA) may be difficult to treat. In pemphigoid diseases, mucocutaneous blistering is caused by autoantibodies to hemidesmosomal antigens; in EBA the autoantigen is type VII collagen. Despite growing insights into pemphigoid disease

  14. Human orf complicated by epidermolysis bullosa acquisita.

    Science.gov (United States)

    Zuelgaray, E; Salle de Chou, C; Gottlieb, J; Battistella, M; Vignon-Pennamen, M D; Bagot, M; Guibal, F; Bouaziz, J D

    2017-03-24

    Orf is a DNA parapoxvirus transmitted to humans by contact with infected goats and sheep. Many complications have been reported after orf infection, including erythema multiforme. A few cases of autoimmune bullous dermatosis complicating orf disease have been reported to date. They are usually characterized by tense blister eruptions with or without mucosal involvement; linear deposition of C3, IgG and/or IgA along the basement membrane; and negativity of indirect immunofluorescence analysis and enzyme-linked immunosorbent assay (ELISA) (performed in four of 11 reported cases). These analyses have targeted antigens of bullous pemphigoid, mucous membrane pemphigoid or epidermolysis bullosa acquisita, except one case of mucosal pemphigoid with antilaminin-332 antibodies. We describe the case of a patient who presented with an ulceration on his finger 10 days after direct contact with a lamb during Eid al-Adha. Four weeks later he developed a severe tense blistering eruption associated with mucous membrane erosions. Indirect immunofluorescence analysis using the patient's serum revealed circulating antibasement membrane IgG that bound the dermal side of salt-split skin. ELISA was positive for recombinant immunodominant NC1 domain of type VII collagen. We finally diagnosed epidermolysis bullosa acquisita complicating probable human orf infection. © 2017 British Association of Dermatologists.

  15. Generalized atrophic benign epidermolysis bullosa - Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency

    NARCIS (Netherlands)

    Jonkman, MF; DeJong, MCJM; Heeres, K; Steijlen, PM; Owaribe, K; Kuster, W; Meurer, M; GeddeDahl, T; Sonnenberg, A; BrucknerTuderman, L

    Background: Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia nith onset in childhood. Recently, we discovered

  16. Epidermolysis bullosa acquisita: current diagnosis and therapy

    Directory of Open Access Journals (Sweden)

    Christine R. Mehren

    2011-11-01

    Full Text Available Epidermolysis bullosa acquisita (EBA is an acquired, autoimmune subepidermal blistering disease with an approximate prevalence of 0,2/million people. The hallmark of EBA is the presence of autoantibodies (mainly IgG class to anchoring fibril collagen (type VII collagen located at the dermal-epidermal junction. Clinically EBA is subdivided into the inflammatory and the non-inflammatory phenotypes, depending on the level of the cleavage in the basal membrane. A recent addition to the diagnostic techniques is the analysis of the serration pattern of the autoantibody deposits at the basal membrane in the direct immunofluorescence. EBA and the closely related bullous systemic lupus erythematosus are the only diseases presenting with the so-called u-serration pattern which distinguishes them from many other autoimmune subepidermal blistering diseases. We also discuss the recent advances in therapy, including the experience with Rituximab.

  17. Concha Bullosa Mucopyocele: a Case Report

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    Kamran Sari

    2016-03-01

    Full Text Available Concha bullosa (CB is among the most common anatomic variations of sinonasal anatomy. Although usually asymptomatic, CB can occasionally cause nasal obstruction or headache. Obstructions within the mucociliary transport system can develop into a mucocele or mucopyocele. A 48-year-old female, with a history of progressive headache and nasal obstruction, was referred to our department. Paranasal sinus tomography revealed a nasal mass in the left nasal cavity resembling a mucopyocele in the middle turbinate. Under general anesthesia, the purulent material was aspirated, and the lateral part of the left turbinate was resected. Mucopyoceles are common within the paranasal sinuses, but uncommon with CB; thus, they should be considered in patients with a large hyperemic nasal mass.

  18. Dystrophic epidermolysis bullosa in a child

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    Uma Eswara

    2012-01-01

    Full Text Available Epidermolysis Bullosa (EB is a form of severe skin adhesion defect due to the disruption of the dermal- epidermal junction. It is classified into simplex and dystrophic forms depending on the level at which the junction is compromised. Repeated ulcerations and bullae formation in the mouth lead to scarring that brings about various changes in the oral cavity. These include loss of sulcular depth, ankyloglossia, limited mouth opening and other dentoalveolar changes. At present while there is no cure for EB, the therapeutic approaches are essentially aimed at controlling the infections and maintaining an acceptable quality of life. Dental management should aim at maintaining a functional dentition that would help in mastication and favour nutrition. Oral manifestations and dental management in a child diagnosed with dystrophic EB since birth are presented here.

  19. Clinical management for epidermolysis bullosa dystrophica

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    Thais M. Oliveira

    2008-02-01

    Full Text Available Epidermolysis bullosa (EB consists of a group of genetic hereditary disorders in which patients frequently present fragile skin and mucosa that form blisters following minor trauma. More than 20 subtypes of EB have been recognized in the literature. Specific genetic mutations are well characterized for most the different EB subtypes and variants. The most common oral manifestations of EB are painful blisters affecting all the oral surfaces. Dental treatment for patients with EB consists of palliative therapy for its oral manifestations along with typical restorative and periodontal procedures. The aim of this article is to describe two dental clinical treatments of recessive dystrophic EB cases and their specific clinical manifestations. The psychological intervention required during the dental treatment of these patients is also presented.

  20. Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq

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    Dorothea Sander

    2016-01-01

    Full Text Available A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from the left palm. Clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of Brocq. We confirmed this genetically and found a heterozygous duplication (c.1752dupT in the keratin 1 gene (KRT-1. To our knowledge, this is the first case of this skin condition reported in the literature with a heterozygous duplication (c.1752dupT in KRT-1.

  1. A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

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    Derya Cimen

    2014-02-01

    Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

  2. Death from colonic disease in epidermolysis bullosa dystrophica

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    Lin Gau-Tyan

    2006-02-01

    Full Text Available Abstract Background Squamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB. Death from colonic disease in epidermolysis bullosa (EB is never reported. Case presentation We demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at age 35 years. Conclusion Constipation is a common clinical feature of RDEB, but fetal complications of chronic constipation are rarely reported. To the author's best knowledge, it has not been reported or recognized in the English literature previously. The aggressive assessment of constipation with fecal impaction is recommended in patients with RDEB.

  3. [Aplasia cutis congenita associated with epidermolysis bullosa].

    Science.gov (United States)

    Muñoz-Guerrero, Félix; Muñoz-Solís, Adrián Antonio; Ornelas-Aguirre, José Manuel

    2016-12-12

    Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical. Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum. It was handled with allograft of epidermis cultured in vitro, general wound care and clinical follow-up. ACC associated with epidermolysis bullosa is one of the rarer forms of presentation. It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  4. Immunofluorescence antigen mapping for hereditary epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Raghavendra Rao

    2012-01-01

    Full Text Available Epidermolysis bullosa (EB is a group of inherited, mechanobullous disorders that are caused by mutations in the structural proteins in the epidermis or dermoepidermal junction. Characteristic clinical picture is the presence of blisters at trauma prone areas of the body, which develops at or soon after birth. Availability of specific monoclonal antibodies against the target proteins together with advances in the molecular genetics have led to the revision in the classification of EB. Now four major types of EB are recognized depending upon the level of blister and the location of target protein: EB simplex (epidermolytic, junctional EB (lucidolytic, dystrophic EB (dermolytic and Kindler′s syndrome (mixed cleavage plane. The laboratory tests not only help to confirm the diagnosis of EB but are also an important tool to classify (and subtype EB. These include immunofluorescence antigen mapping (IFM, transmission electron microscopy (TEM and mutation analysis. IFM is the most preferred method for final diagnosis of EB worldwide. It is relatively easy to perform and results can be obtained rapidly. This article describes the technicalities and significance of IFM in various types of EB.

  5. Molecular determinants archetypical to the phylum Nematoda

    Directory of Open Access Journals (Sweden)

    McCarter James P

    2009-03-01

    Full Text Available Abstract Background Nematoda diverged from other animals between 600–1,200 million years ago and has become one of the most diverse animal phyla on earth. Most nematodes are free-living animals, but many are parasites of plants and animals including humans, posing major ecological and economical challenges around the world. Results We investigated phylum-specific molecular characteristics in Nematoda by exploring over 214,000 polypeptides from 32 nematode species including 27 parasites. Over 50,000 nematode protein families were identified based on primary sequence, including ~10% with members from at least three different species. Nearly 1,600 of the multi-species families did not share homology to Pfam domains, including a total of 758 restricted to Nematoda. Majority of the 462 families that were conserved among both free-living and parasitic species contained members from multiple nematode clades, yet ~90% of the 296 parasite-specific families originated only from a single clade. Features of these protein families were revealed through extrapolation of essential functions from observed RNAi phenotypes in C. elegans, bioinformatics-based functional annotations, identification of distant homology based on protein folds, and prediction of expression at accessible nematode surfaces. In addition, we identified a group of nematode-restricted sequence features in energy-generating electron transfer complexes as potential targets for new chemicals with minimal or no toxicity to the host. Conclusion This study identified and characterized the molecular determinants that help in defining the phylum Nematoda, and therefore improved our understanding of nematode protein evolution and provided novel insights for the development of next generation parasite control strategies.

  6. Molecular determinants archetypical to the phylum Nematoda

    Science.gov (United States)

    2009-01-01

    Background Nematoda diverged from other animals between 600–1,200 million years ago and has become one of the most diverse animal phyla on earth. Most nematodes are free-living animals, but many are parasites of plants and animals including humans, posing major ecological and economical challenges around the world. Results We investigated phylum-specific molecular characteristics in Nematoda by exploring over 214,000 polypeptides from 32 nematode species including 27 parasites. Over 50,000 nematode protein families were identified based on primary sequence, including ~10% with members from at least three different species. Nearly 1,600 of the multi-species families did not share homology to Pfam domains, including a total of 758 restricted to Nematoda. Majority of the 462 families that were conserved among both free-living and parasitic species contained members from multiple nematode clades, yet ~90% of the 296 parasite-specific families originated only from a single clade. Features of these protein families were revealed through extrapolation of essential functions from observed RNAi phenotypes in C. elegans, bioinformatics-based functional annotations, identification of distant homology based on protein folds, and prediction of expression at accessible nematode surfaces. In addition, we identified a group of nematode-restricted sequence features in energy-generating electron transfer complexes as potential targets for new chemicals with minimal or no toxicity to the host. Conclusion This study identified and characterized the molecular determinants that help in defining the phylum Nematoda, and therefore improved our understanding of nematode protein evolution and provided novel insights for the development of next generation parasite control strategies. PMID:19296854

  7. The evolution of parasitism in Nematoda

    OpenAIRE

    Blaxter, Mark; Koutsovoulos, Georgios

    2014-01-01

    Nematodes are abundant and diverse, and include many parasitic species. Molecular phylogenetic analyses have shown that parasitism of plants and animals has arisen at least 15 times independently. Extant nematode species also display lifestyles that are proposed to be on the evolutionary trajectory to parasitism. Recent advances have permitted the determination of the genomes and transcriptomes of many nematode species. These new data can be used to further resolve the phylogeny of Nematoda, ...

  8. Recessive Epidermolysis Bullosa simplex- A case report | Yusuf ...

    African Journals Online (AJOL)

    Background:Epidermolysis bullosa simplex (EBS) is characterized by intraepidermal blister formation, most commonly appearing in early infancy. Many variants of EBS exist; the four most common variants are inherited in an autosomal dominant fashion. The recessive forms are rare and less reported in our environment.

  9. Dental and anesthetic management of a child with epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    V Rathna Prabhu

    2011-01-01

    Full Text Available Epidermolysis bullosa (EB is a wide spectrum of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesculobullous lesions occur in response to trauma, heat, or no apparent cause. This case report deals with the dental and anesthetic management of a 10-year-old girl with dystrophic EB.

  10. Epidermolysis bullosa simplex: A case report | Peterside | Nigerian ...

    African Journals Online (AJOL)

    Epidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion. It consists of a group of conditions that cause the skin to be fragile and blister easily. EB has been classified into three types namely; simplex, junctional and dystrophic. Although all three types of EB have ...

  11. Crusted (Norwegian) scabies in a patient with dystrophic epidermolysis bullosa

    NARCIS (Netherlands)

    Van der Wal, VB; Vader, PCV; Mandema, JM; Jonkman, MF

    1999-01-01

    A 13-year-old girl with severe non-mutilating recessive dystrophic epidermolysis bullosa (EB) was admitted to hospital because of a Staphyloccus aureus sepsis, deterioration of her general condition and worsening of her sl;in disease, which itched severely, In addition to the blisters and erosions

  12. Epidermolysis bullosa pruriginosa: A report of two cases

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    Varadraj Vasant Pai

    2014-01-01

    Full Text Available Epidermolysis bullosa (EB pruriginosa is a very rare pattern of dystrophic EB caused by type VII collagen gene mutation, with distinctive clinico-pathological features. It is characterized by nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions. We report two such cases.

  13. Postoperative hand treatment in children with recessive dystrophic epidermolysis bullosa

    NARCIS (Netherlands)

    Formsma, S. A.; Maathuis, C. B. G.; Robinson, P. H.; Jonkman, M. E.

    2008-01-01

    The purpose of this study is to give an overview of the postoperative hand treatment options in children with recessive dystrophic epidermolysis bullosa (EB) and to introduce a treatment protocol and discuss the indications and timing. Recessive dystrophic EB is a rare hereditary blistering skin

  14. Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa

    NARCIS (Netherlands)

    Kiritsi, Dimitra; Garcia, Marta; Brander, Renske; Has, Cristina; Meijer, Rowdy; Jose Escamez, Maria; Kohlhase, Juergen; van den Akker, Peter C.; Scheffer, Hans; Jonkman, Marcel F.; del Rio, Marcela; Bruckner-Tuderman, Leena; Pasmooij, Anna M. G.

    Revertant mosaicism has been reported in several inherited diseases, including the genetic skin fragility disorder epidermolysis bullosa (EB). Here, we describe the largest cohort of seven patients with revertant mosaicism and dystrophic EB (DEB), associated with mutations in the COL7A1 gene, and

  15. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    The association between epidermolysis bullosa and congenital pyloric atresia is rare, but is a known distinct clinical entity with autosomal recessive inheritance. We report on a case of a baby girl born by cesarean section at 37 weeks' gestation to a G7 P7 mother and weighed 2.84 kg. At birth, there was denuded skin over ...

  16. Periodontal manifestation of epidermolysis bullosa: Looking through the lens

    OpenAIRE

    Praveen Kudva; Rajsi Jain

    2016-01-01

    Epidermolysis bullosa (EB) is a genetic disease associated with fragility and bullous lesions of the skin and mucous membranes. There are various patterns of inheritance and histopathology. The disease is associated with systemic and oral manifestations. Treatment of this disease is multidisciplinary and remains only palliative till today. The present case report describes periodontal manifestations of EB and the treatment plan for the same.

  17. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

    NARCIS (Netherlands)

    Jonkman, MF; Scheffer, H; Stulp, R; Pas, HH; Nijenhuis, Albertine; Heeres, K; Owaribe, K; Pulkkinen, L; Uitto, J

    1997-01-01

    Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene

  18. Case report: Ichthiosis bullosa of Siemens | Ahmed | Sudanese ...

    African Journals Online (AJOL)

    A case of ichthiosis bullosa of Siemens is described in a twenty-five years old Sudanese female. Review of this condition concerning genetics, molecular biology, histopathology and clinical picture is added. Sudanese Journal of Dermatology Vol. 3(2) 2005: 96-98 ...

  19. Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease

    National Research Council Canada - National Science Library

    Russo, Irene; Ferrazzi, Anna; Zanetti, Irene; Alaibac, Mauro

    2015-01-01

    Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in trauma-prone sites and extensor skin...

  20. The evolution of tyrosine-recombinase elements in Nematoda

    OpenAIRE

    Amir Szitenberg; Georgios Koutsovoulos; Blaxter, Mark L.; Lunt, David H

    2014-01-01

    Transposable elements can be categorised into DNA and RNA elements based on their mechanism of transposition. Tyrosine recombinase elements (YREs) are relatively rare and poorly understood, despite sharing characteristics with both DNA and RNA elements. Previously, the Nematoda have been reported to have a substantially different diversity of YREs compared to other animal phyla: the Dirs1-like YRE retrotransposon was encountered in most animal phyla but not in Nematoda, and a unique Pat1-like...

  1. The evolution of tyrosine-recombinase elements in Nematoda.

    Directory of Open Access Journals (Sweden)

    Amir Szitenberg

    Full Text Available Transposable elements can be categorised into DNA and RNA elements based on their mechanism of transposition. Tyrosine recombinase elements (YREs are relatively rare and poorly understood, despite sharing characteristics with both DNA and RNA elements. Previously, the Nematoda have been reported to have a substantially different diversity of YREs compared to other animal phyla: the Dirs1-like YRE retrotransposon was encountered in most animal phyla but not in Nematoda, and a unique Pat1-like YRE retrotransposon has only been recorded from Nematoda. We explored the diversity of YREs in Nematoda by sampling broadly across the phylum and including 34 genomes representing the three classes within Nematoda. We developed a method to isolate and classify YREs based on both feature organization and phylogenetic relationships in an open and reproducible workflow. We also ensured that our phylogenetic approach to YRE classification identified truncated and degenerate elements, informatively increasing the number of elements sampled. We identified Dirs1-like elements (thought to be absent from Nematoda in the nematode classes Enoplia and Dorylaimia indicating that nematode model species do not adequately represent the diversity of transposable elements in the phylum. Nematode Pat1-like elements were found to be a derived form of another Pat1-like element that is present more widely in animals. Several sequence features used widely for the classification of YREs were found to be homoplasious, highlighting the need for a phylogenetically-based classification scheme. Nematode model species do not represent the diversity of transposable elements in the phylum.

  2. The evolution of tyrosine-recombinase elements in Nematoda.

    Science.gov (United States)

    Szitenberg, Amir; Koutsovoulos, Georgios; Blaxter, Mark L; Lunt, David H

    2014-01-01

    Transposable elements can be categorised into DNA and RNA elements based on their mechanism of transposition. Tyrosine recombinase elements (YREs) are relatively rare and poorly understood, despite sharing characteristics with both DNA and RNA elements. Previously, the Nematoda have been reported to have a substantially different diversity of YREs compared to other animal phyla: the Dirs1-like YRE retrotransposon was encountered in most animal phyla but not in Nematoda, and a unique Pat1-like YRE retrotransposon has only been recorded from Nematoda. We explored the diversity of YREs in Nematoda by sampling broadly across the phylum and including 34 genomes representing the three classes within Nematoda. We developed a method to isolate and classify YREs based on both feature organization and phylogenetic relationships in an open and reproducible workflow. We also ensured that our phylogenetic approach to YRE classification identified truncated and degenerate elements, informatively increasing the number of elements sampled. We identified Dirs1-like elements (thought to be absent from Nematoda) in the nematode classes Enoplia and Dorylaimia indicating that nematode model species do not adequately represent the diversity of transposable elements in the phylum. Nematode Pat1-like elements were found to be a derived form of another Pat1-like element that is present more widely in animals. Several sequence features used widely for the classification of YREs were found to be homoplasious, highlighting the need for a phylogenetically-based classification scheme. Nematode model species do not represent the diversity of transposable elements in the phylum.

  3. Epidermolysis bullosa: A series of 12 patients in Kashmir valley

    Directory of Open Access Journals (Sweden)

    Qayoom Seema

    2010-01-01

    Full Text Available Background: Epidermolysis Bullosa (EB is a genetically determined mechano-bullous disorder of the skin encompassing a group of conditions that share skin fragility as a common feature. Materials and Methods: Twele patients with Epidermolysis Bullosa from Kashmir valley are reported. Results: Our series included 12 patients, 5 males and 7 females. Features were consistent with EB simplex in 8 patients, EB pruriginosa in 2 patients, generalized atrophic benign EB in one patient and EB acquista in one patient. Conclusion: EB is a rare, genetically determined, blistering disorder affecting both males and females with predominant involvement of hands and feet. In the absence of specific therapy, treatment mainly involves avoidance of provoking factors, prevention and treatment of complications.

  4. An Epidermolysis Bullosa Patient Complicated with Chronic Renal Failure

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    Özkan Ulutaş

    2013-03-01

    Full Text Available A 32-yr-old man with epidermolysis bullosa presented with clinical and laboratory findings of chronic renal failure. The patient was supposed to be suffering from mesangial IgA glomerulonephritis in view of the repeated persistent macroscopic episodes of hematuria and raised serum IgA levels, especially polimeric IgA. Because continuous vascular access could not be established, the patient died due to uremia and sepsis. Renal complications are associated with life-threatening problems in this inherited mechanobullous disease because it is impossible to obtain a continuous vascular access or a continuous peritoneal access. The possibility of IgA nephropathy should be considered in patients with epidermolysis bullosa. They should be periodically set up screened for IgA levels and hematuria.

  5. Epidermolysis bullosa pruriginosa: A rare presentation with asymptomatic lesions

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    Sangita Ghosh

    2013-01-01

    Full Text Available Epidermolysis bullosa pruriginosa (EBP is a subtype of dominant dystrophic epidermolysis bullosa (DDEB and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

  6. Main problems experienced by children with epidermolysis bullosa : A qualitative study with semi-structured interviews

    NARCIS (Netherlands)

    van Scheppingen, Corinne; Lettinga, Ant T.; Duipmans, Jose C.; Maathuis, Care G. B.; Jonkman, Marcel F.

    2008-01-01

    The objective of this study was to identify and specify the problems of children with epidermolysis bullosa. The questions explored were: (i) What do children with epidermolysis bullosa experience as the most difficult problems; (it) What is the impact of these problems on their daily life; and

  7. Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

    Science.gov (United States)

    Wagner, John E.; Ishida-Yamamoto, Akemi; McGrath, John A.; Hordinsky, Maria; Keene, Douglas R.; Riddle, Megan J.; Osborn, Mark J.; Lund, Troy; Dolan, Michelle; Blazar, Bruce R.; Tolar, Jakub

    2010-01-01

    Background Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7−/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations of recessive dystrophic epidermolysis bullosa in humans. Methods Between October 2007 and August 2009, we treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. We assessed C7 expression by means of immunofluorescence staining and used transmission electron microscopy to visualize anchoring fibrils. We measured chimerism by means of competitive polymerase-chain-reaction assay, and documented blister formation and wound healing with the use of digital photography. Results One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. We observed increased C7 deposition at the dermal–epidermal junction in five of the six recipients, albeit without normalization of anchoring fibrils. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-C7 antibodies. Conclusions Increased C7 deposition and a sustained presence of donor cells were found in the skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation. Further studies are needed to assess the long-term risks and benefits of such therapy in patients with this disorder. (Funded by the National

  8. Periodontal manifestation of epidermolysis bullosa: Looking through the lens

    Directory of Open Access Journals (Sweden)

    Praveen Kudva

    2016-01-01

    Full Text Available Epidermolysis bullosa (EB is a genetic disease associated with fragility and bullous lesions of the skin and mucous membranes. There are various patterns of inheritance and histopathology. The disease is associated with systemic and oral manifestations. Treatment of this disease is multidisciplinary and remains only palliative till today. The present case report describes periodontal manifestations of EB and the treatment plan for the same.

  9. The safe and effective use of methylphenidate in the psychiatric treatment of an adolescent with Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Ozalp Ekinci

    2013-06-01

    Full Text Available Epidermolysis Bullosa is a group of inherited dermatological disorder with severe clinical symptoms. Children and adolescents with epidermolysis bullosa have been reported to experience psychosocial problems in addition to the symptoms associated with epidermolysis bullosa. Although children and adolescents with epidermolysis bullosa commonly have psychiatric symptoms, limited research has been conducted on the psychiatric treatment options. In this case report, psychiatric treatment and the safe and effective use of methylphenidate in the treatment of attention deficit hyperactivity disorder in an adolescent with epidermolysis bullosa will be discussed. [Cukurova Med J 2013; 38(3.000: 487-491

  10. Bilateral Triple Concha Bullosa: A Very Rare Anatomical Variation of Intranasal Turbinates

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    Turhan San

    2014-01-01

    Full Text Available Pneumatization of the intranasal turbinates or concha bullosa is an anatomic variation of the lateral nasal wall. Concha bullosa is defined as the presence of air cells in turbinates. It can be best diagnosed with paranasal sinus computed tomography. Concha bullosa is a possible etiologic factor for recurrent sinusitis due to its negative effect on paranasal sinus ventilation and mucociliary clearance. Concha bullosa is most commonly seen in the middle turbinate and less frequently in the inferior or superior turbinate. Pneumatization of all turbinates is very rare. To our knowledge, there are only two publications about a case with concha bullosa in all turbinates in the current literature. Here, we present a woman with bilateral pneumatization in all three intranasal turbinates.

  11. Dystrophic epidermolysis bullosa associated with non-syndromic hypodontia

    Directory of Open Access Journals (Sweden)

    Sonali Sharma

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB is a genetic disease associated with fragility and bullous lesions of the skin and mucous membranes. There are various patterns of inheritance and histopathology. The disease is associated with systemic and oral manifestations, among which may be dental decay necessitating oral rehabilitation. The aim of this article is to present the course of the condition in a child with dystrophic EB and also to report an association between EB, hypodontia, and supernumerary teeth which has not been reported earlier in literature.

  12. X-linked ichthyosis along with epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Shambulingappa Pallagatti

    2012-01-01

    Full Text Available Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis.Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation.In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

  13. X-linked ichthyosis along with epidermolysis bullosa.

    Science.gov (United States)

    Pallagatti, Shambulingappa; Sheikh, Soheyl; Kaur, Anupreet; Aggarwal, Amit; Singh, Ravinder

    2012-04-01

    Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis. Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI) is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation. In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

  14. Diagnosis and clinical features of epidermolysis bullosa acquisita.

    Science.gov (United States)

    Caux, Frédéric

    2011-07-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring fibrils of cutaneous and mucosal basement membrane zones. It is due to circulating antibodies directed to type VII collagen. Clinical manifestations include a classical form with skin fragility, blisters and scars on trauma-prone surfaces, an inflammatory form, and a cicatricial pemphigoid-like form. Specialized tests available in only certain laboratories are necessary to confirm a diagnosis of EBA, such as immunoelectron microscopy, immunoblotting, or ELISA using recombinant proteins. A frequent association between EBA and Crohn disease has been observed. Copyright © 2011 Elsevier Inc. All rights reserved.

  15. Odontological management of patients with inherited epidermolysis bullosa

    OpenAIRE

    Casazza, Estelle

    2016-01-01

    Inherited Epidermolysis Bullosa (I.E.B.) represent a group of very rare dermatological diseases. They are mostly characterized by the development of cutaneous and/or mucosal blistering on the patient’s body. E.B. has been divided into four main categories: E.B Simplex, Junctional E.B., Dystrophic E.B. and Kindler syndrome. Their signs and their severity are very different ; these patients’ follow up demands to develop specific procedures adapted for each one. Medical care of these patients ha...

  16. Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

    Directory of Open Access Journals (Sweden)

    Danielius Serapinas

    2015-10-01

    Full Text Available Dystrophic epidermolysis bullosa is an inherited disease presenting with blistering of the skin in the subdermal layer caused by gene COL7A1 mutations. The authors reviewed a case of this disease determined by two mutations: dominant and recessive. The disease presented with blisters all over the patient’s body, mostly on the neck, back, and inguinal area, as well as on the hands and feet. The symptom that most affected the patient’s quality of life was severe blistering and ulceration in the pharynx, mucous membrane of the mouth, and perianal area. There is no effective treatment today, only procedures to relieve complications like oesophageal obstructions.

  17. Estado nutricional en pacientes con Epidermilósis Bullosa

    OpenAIRE

    Manrique, María Laura

    2012-01-01

    La epidermólisis bullosa (EB) es un grupo heterogéneo de trastornos hereditarios, que se manifiesta por ampollas recurrentes de la piel inducido por el menor trauma. Debido a la descamación de la piel y la participación asociada del tracto gastrointestinal, incluyendo la motilidad anormal del esófago, disfagia, estenosis, daño de la mucosa, diarrea, y, posiblemente, la ingesta inadecuada de nutrientes, muchos niños con EB son susceptibles a un significativo comprometido del est...

  18. Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease.

    Science.gov (United States)

    Russo, Irene; Ferrazzi, Anna; Zanetti, Irene; Alaibac, Mauro

    2015-07-10

    Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in trauma-prone sites and extensor skin surface, scarring with formation of milia, skin fragility and nail dystrophy. Epidermolysis bullosa acquisita is extremely rare in childhood and it has been reported to be frequently associated with Crohn's disease. Furthermore, autoantibodies against type VII collagen have been found in a large number of patients with Crohn's disease without epidermolysis bullosa acquisita. We report a case of a 17-year-old boy affected by Crohn's disease who presented with milia on infiltrated erythematous plaques over the back of the hands. The diagnosis of epidermolysis bullosa acquisita was confirmed by histopathology, direct and indirect immunofluorescence analysis and ELISA. 2015 BMJ Publishing Group Ltd.

  19. Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus

    Directory of Open Access Journals (Sweden)

    Qiping Chen

    2015-01-01

    Full Text Available Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67-1G>T probably led to in-frame skipping of exon 68 (36-basepairs, resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.

  20. EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA - A case report

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    Ivelina Yordanova

    2008-10-01

    Full Text Available A case with Epidermolysis bullosa simplex Dowling-Meara is presented. It concerns a 20 days breast-fed girl with severe blistering and erosions on the skin formed at birth after minor mechanical trauma. There are no other affected relatives. A medical examination showed normal somatic and visceral status. There were multiple herpetiform grouped bullous and erosive lesions on the face, trunk, upper and lower limbs, palms and soles. The mucous membranes were not affected. There was also a marked nail dystrophy on the fingers and toenails. The electron microscopic examination revealed cytolysis of the basal keratinocytes with clumping of the perinuclear tonofilaments in the lesional skin. Because of the clinical features and the results of the electron microscopic examination of the skin the case here reported should be considered as an Epidermolysis bullosa simplex Dowling-Meara. The child is followed up to the age of three. The course of the disease was benign with a decreased formation of blisters and erosions. The marked nail dystrophy was persistent. There was palmar and plantar hyperkeratosis. The child’s growth, neural and psychic development wsas normal. The early diagnosis of the bullous epidermolysis is helpful in the prognostic assessment of the disease and in the medical and genetic advice for the parents.

  1. Inherited epidermolysis bullosa: Case report of finger localization

    Directory of Open Access Journals (Sweden)

    Anne- Aurore Sankale

    2012-01-01

    Full Text Available Inherited epidermolysis bullosa is a rare condition that often present at birth with skin blisters and erosions. They are associated with defective cohesion of the dermis and epidermis. There are 3 principal types: Simple, junctional and dystrophic. The severity of the condition is quite variable. The most severe forms are incompatible with life. The most common types in our country are the severe ones such as the Hallopeau -Siemens subtype. Hands and mucosal areas can develop synechia. We report here a case of dystrophic epidermolysis bullosa in a 27-year-old woman whose finger lesion was managed surgically. This treatment consisted of complete removal of constrictions and adhesions, accompanied by use of a Hueston flap and skin graft to repair the tissue deficit. The patient′s clinical course required several repeat operations. This surgery allowed the possible total loss of hand function to be delayed but the inevitable progression of the illness made the treatment somewhat disappointing. Psychosocial implications are very significant in our setting.

  2. Clinical features and diagnosis of epidermolysis bullosa acquisita.

    Science.gov (United States)

    Vorobyev, Artem; Ludwig, Ralf J; Schmidt, Enno

    2017-02-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune blistering disease of skin and mucous membranes. EBA is caused by autoantibodies against type VII collagen, which is a major component of anchoring fibrils, attaching epidermis to dermis. Binding of autoantibodies to type VII collagen leads to skin fragility and, finally, blister formation. The clinical picture of EBA is polymorphic, with several distinct phenotypes being described. Despite recent progress in understanding the pathophysiology of EBA, its diagnosis is still challenging. Areas covered: This review provides an update on the clinical manifestations and diagnostic methods of EBA. We searched PubMed using the terms 'epidermolysis bullosa acquisita' covering articles in English between 1 January 2005 and 31 May 2016. Relevant older publications were retrieved form cited literature. Expert commentary: While the clinical picture is highly variable, diagnosis relies on direct immunofluorescence (IF) microscopy of a perilesional skin biopsy. Linear deposits of IgG, IgA and/or C3 along the dermal-epidermal junction with an u-serrated pattern are diagnostic for EBA alike the detection of serum autoantibodies against type VII collagen. Several test systems for the serological diagnosis of EBA have recently become widely available. In some patients, sophisticated diagnostic approaches only available in specialized centers are required.

  3. EFFICACY OF NEW SKIN DEFECT RESTORATION METHOD IN PATIENT WITH CONGENITAL EPIDERMOLYSIS BULLOSA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    R.R. Rakhmatullin

    2011-01-01

    Full Text Available The article describes the first case of biomaterial use for the skin defect restoration in patient 12 years old with congenital epidermolysis bullosa. High efficacy of bioplastic material based on native form of hyaluronic acid was shown. Ulcerous skin defect regenerated rapidly.Key words: congenital epidermolysis bullosa, bioplastic material, treatment.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (2: 205–207

  4. Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease

    OpenAIRE

    Russo, Irene; Ferrazzi, Anna; Zanetti, Irene; Alaibac, Mauro

    2015-01-01

    Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in trauma-prone sites and extensor skin surface, scarring with formation of milia, skin fragility and nail dystrophy. Epidermolysis bullosa acquisita is extremely rare in childhood and it has been reported to be frequently associated with Crohn's disease. Furthermore, autoantibodies against type VII collagen have been found in a large ...

  5. Evolution of Plant Parasitism in the Phylum Nematoda

    NARCIS (Netherlands)

    Quist, C.W.; Smant, G.; Helder, J.

    2015-01-01

    Within the species-rich and trophically diverse phylum Nematoda, at least four independent major lineages of plant parasites have evolved, and in at least one of these major lineages plant parasitism arose independently multiple times. Ribosomal DNA data, sequence information from nematode-produced,

  6. The evolution of parasitism in Nematoda.

    Science.gov (United States)

    Blaxter, Mark; Koutsovoulos, Georgios

    2015-02-01

    Nematodes are abundant and diverse, and include many parasitic species. Molecular phylogenetic analyses have shown that parasitism of plants and animals has arisen at least 15 times independently. Extant nematode species also display lifestyles that are proposed to be on the evolutionary trajectory to parasitism. Recent advances have permitted the determination of the genomes and transcriptomes of many nematode species. These new data can be used to further resolve the phylogeny of Nematoda, and identify possible genetic patterns associated with parasitism. Plant-parasitic nematode genomes show evidence of horizontal gene transfer from other members of the rhizosphere, and these genes play important roles in the parasite-host interface. Similar horizontal transfer is not evident in animal parasitic groups. Many nematodes have bacterial symbionts that can be essential for survival. Horizontal transfer from symbionts to the nematode is also common, but its biological importance is unclear. Over 100 nematode species are currently targeted for sequencing, and these data will yield important insights into the biology and evolutionary history of parasitism. It is important that these new technologies are also applied to free-living taxa, so that the pre-parasitic ground state can be inferred, and the novelties associated with parasitism isolated.

  7. Oral health status in children with inherited dystrophic epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Čolović Aleksandra

    2017-01-01

    Full Text Available Background/Aim. Epidermolysis bullosa is a group of rare, genetic connective tissue diseases that cause blisters in the skin and mucosal membranes. The aim of this study was to evaluate the oral health status of patients with epidermolysis bullosa dystrophica and level of knowledge and opinion of parents about the implementation of preventive measaures and quality of dental care of affected children. Methods. This study included a group of 17 patients from Serbia suffering from dystrophic epidermolysis bullosa and matched control group. Dental caries status was assessed using the Klein-Palmer index. Oral hygiene status was verified with oral hygiene indices, simplified plaque index, and calculus index as described by Green and Vermillion. The gingiva was assessed as healthy or inflamed (gingivitis on the basis of any changes in color, shape, size and surface texture. The condition of oral mucosa has been registered on the basis of inspection of the lips, tongue, a floor of the mouth, mouth vestibule and palate. The level of knowledge and the impressions of parents about the application of preventive measures were investigated through two questionnaires specifically designed for this study. Results. In both dentitions, there was the highest percentage of caries teeth. In primary dentition average value of the modified plaque index was 1.4 ± 1.14 and modified calculus was 0.7 ± 1. On permanent teeth average plaque index was 2 ± 0.4, and average calculus 1.6 ± 0.6. Statistically, significant higher values were found in permanent dentition in percentage distribution of decayed, missing, filled teeth and also for plaque and calculus indices between affected children and the control group. Most common findings on mucosa were microstomia (76.5% and ankyloglossia (88.2%. Conclusion. The absence of protocol between the treating physician and the dentist and not sufficiently informed parents are leading to inadequate dental care. The implementation of

  8. Prevalensi Cacing Nematoda Saluran Pencernaan pada Kambing Peranakan Ettawa di Kecamatan Siliragung, Kabupaten Banyuwangi, Jawa Timur

    OpenAIRE

    Taufik Mukti; Ida Bagus Made Oka; I Made Dwinata

    2016-01-01

    Penelitian ini bertujuan untuk mengetahui prevalensi cacing nematoda saluran pencernaanpada kambing Peranakan Ettawa di Kecamatan Siliragung Kabupaten Banyuwangi, Jawa Timur.Sampel feses diambil dari 160 ekor kambing Peranakan Ettawa yang dipilih secara purposivesampling pada setiap desa di Kecamatan Siliragung Kabupaten Banyuwangi, Jawa Timur. Fesesdiperiksa dengan uji apung untuk mendeteksi keberadaan telur cacing nematoda saluran pencernaanberdasarkan morfologinya. Hasil penelitian didapat...

  9. INCIDENCE OF JUNCTIONAL EPIDERMOLYSIS BULLOSA AMONG ROMANIAN DRAFT HORSES

    Directory of Open Access Journals (Sweden)

    S.E. GEORGESCU

    2008-05-01

    Full Text Available Junctional Epidermolysis Bullosa (JEB is an inherited disease which causes skin lesions in newborn foals and results in large areas of skin loss. The mutation responsible for the disease is a cytosine insertion in the LAMC2 gene, which results in absent expression of the laminin γ2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait (Spirito et al. 2002, Milenkovic et al. 2003. Our objective was to analyze Romanian Draft Horses using a set of primers which amplify a fragment from the LAMC2 gene possibly containing the insertion for correctly identifying the normal homozygous and heterozygous carrier horses for the JEB trait. The number of allele peaks depends on whether the horse tested is a heterozygote (carrier or homozygote (normal or JEB affected. Results suggest that the genetic test will be useful in identifying horses which are heterozygous for the JEB trait and foals with JEB.

  10. Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Susanna Esposito

    2016-09-01

    Full Text Available In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly higher in the patients than in the controls (p = 0.008, p < 0.001, p < 0.001, p < 0.001 and p < 0.001 for desmoglein 1 (DSG1 desmoglein 3 (DSG3, bullous pemphigoid 180 (BP180, BP230 and type VII collagen (COL7, respectively. The same trend was observed for interleukin (IL-1β, IL-2, IL-6, IL-10, tumor necrosis factor-β, and interferon-γ (p < 0.001, p < 0.001, p < 0.001, p = 0.008, p < 0.001 and p = 0.002, respectively. Increases in anti-skin antibodies and cytokine concentrations were higher in patients with recessive dystrophic EB than in those with different types of EB, in generalized cases than in localized ones, and in patients with higher Birmingham Epidermolysis Bullosa Severity (BEBS scores than in those with a lower score. The BEBS score was directly correlated with BP180, BP230, COL7 (p = 0.015, p = 0.008 and p < 0.001, respectively and IL-6 (p = 0.03, whereas IL-6 appeared significantly associated with DSG1, DSG3, BP180, BP230 and COL7 (p = 0.015, p = 0.023, p = 0.023, p = 0.015 and p = 0.005, respectively. This study showed that autoimmunity and inflammatory responses are frequently activated in EB, mainly in severe forms, suggesting the use of immunosuppressive drugs or biologicals that are active against pro-inflammatory cytokines to reduce clinical signs and symptoms of disease.

  11. Management of digestive lesions associated to congenital epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Jamila Chahed

    2015-01-01

    Full Text Available Background: Congenital epidermolysis bullosa (CEB is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA and oesophageal stenosis (OS are considered the most serious digestive lesions to occur.The aim of this work is to study the management and the outcome of digestive lesions associated to CEB in four children and to compare our results to the literature. Patients and Methods: A retrospective study of four observations: Two cases of PA and two cases of OS associated to CEB managed in the Paediatric Surgery Department of Fattouma Bourguiba Teaching Hospital in Monastir, Tunisia. Results: Four patients, two of them are 11 and 8 years old, diagnosed as having a dystrophic epidermolysis bullosa since the neonatal period. They were admitted for the investigation of progressive dysphagia. Oesophageal stenosis was confirmed by an upper contrast study. Pneumatic dilation was the advocated therapeutic method for both patients with afavourable outcome. The two other patients are newborns, diagnosed to have a CEB because of association of PA with bullous skin lesions with erosive scars. Both patients had a complete diaphragm excision with pyloroplasty. They died at the age of 4 and 3 months of severe diarrhoea resistant to medical treatment. Conclusion: Digestive lesions associated to CEB represent an aggravating factor of a serious disease. OS complicating CEB is severe with difficult management. Pneumatic dilatation is the gold standard treatment method. However, the mortality rate in PA with CEB is high. Prenatal diagnosis of PA is possible, and it can help avoiding lethal forms.

  12. The International Dystrophic Epidermolysis Bullosa Patient Registry : An Online Database of Dystrophic Epidermolysis Bullosa Patients and Their COL7A1 Mutations

    NARCIS (Netherlands)

    van den Akker, Peter C.; Jonkman, Marcel F.; Rengaw, Trebor; Bruckner-Tuderman, Leena; Has, Cristina; Bauer, Johann W.; Klausegger, Alfred; Zambruno, Giovanna; Castiglia, Daniele; Mellerio, Jemima E.; McGrath, John A.; van Essen, Anthonie J.; Hofstra, Robert M. W.; Swertz, Morris A.

    2011-01-01

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general

  13. Epidermólisis bullosa: a propósito de un caso Epidermolysis bullosa: apropos of a case

    Directory of Open Access Journals (Sweden)

    Irka Balleste López

    2008-03-01

    Full Text Available La epidermólisis bullosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y las mucosas que son de origen congénito y hereditario. Hacer el diagnóstico no es difícil si se tiene experiencia dermatológica, pero su clasificación es compleja y para ella se necesita considerar la clínica, genética, microscopia y evaluación de laboratorio. El tratamiento de esta enfermedad es también difícil y son necesarias ciertas medidas para proteger al paciente y evitar la aparición de lesiones y las complicaciones derivadas de ellas. Se describe el tratamiento de estas lesiones en un recién nacido, al que se administraron antibióticos profilácticos y se colocaron vendajes en las lesiones. Se describen todos los cuidados y recomendaciones para evitar especialmente los roces y las presiones en estas lesiones y las temperaturas altas.Epidermolysis bullosa comprises a heterogeneous group of bullous diseases of the skin and the mucosas that are of congenital or hereditary origin. Making the diagnosis is not difficult if one has dermatological experience, but its classification is complex and for it, it is necessary to consider the clinic, genetics, microscopy and lab evaluation. The treatment of this disease is also difficult and certain measures are required to protect the patient and to prevent the appearance of lesions and complications derived from them. It is described the treatment of these lesions in a newborn infant who was administered prophylactic antibiotics, and whose lesions were bandaged. All the care and recommendations to specially avoid the friction and pressures on these lesions and the high temperatures were explained.

  14. The use of Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita.

    Science.gov (United States)

    Marzano, Angelo Valerio; Cozzani, Emanuele; Biasin, Matteo; Russo, Irene; Alaibac, Mauro

    2016-05-01

    Epidermolysis bullosa acquisita is a rare autoimmune bullous disease characterized by the presence of circulating antibodies directed against the collagen type VII. Diagnosis is generally based on clinical history, clinical features, histology, direct and indirect immunofluorescence, immunoblotting and ELISA. Our study aims to determine the validity of the Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita. Six patients with epidermolysis bullosa acquisita and presence of antibodies against type VII collagen confirmed by ELISA were included in the study. Subsequently, all sera of patients were analyzed using Biochip. Antibodies anti-collagen type VII were detected in all sera by means of the Biochip technology. Thus, Biochip shows a good correlation with ELISA and seems to be an appropriate method for the diagnosis of epidermolysis bullosa acquisita. It is an easy, fast and standardized method which could facilitate the diagnosis of this autoimmune bullous disease. We suggest that it could be used as an initial screening test to identify patients with epidermolysis bullosa acquisita.

  15. On the evolution of early development in the Nematoda.

    OpenAIRE

    Goldstein, B.

    2001-01-01

    The phylum Nematoda serves as an excellent model system for exploring how development evolves, using a comparative approach to developmental genetics. More than 100 laboratories are studying developmental mechanisms in the nematode Caenorhabditis elegans, and many of the methods that have been developed for C. elegans can be applied to other nematodes. This review summarizes what is known so far about steps in early development that have evolved in the nematodes, and proposes potential experi...

  16. Nutritional aspects of children and adolescents with epidermolysis bullosa: literature review.

    Science.gov (United States)

    Zidorio, Ana Paula Caio; Dutra, Eliane Said; Leão, Dryelle Oliveira Dias; Costa, Izelda Maria Carvalho

    2015-01-01

    Epidermolysis Bullosa is a genetic disorder that affects mainly the skin, however, all others systems are influenced. The nutritional care of children and adolescents with Epidermolysis Bullosa is a key treatment strategy, since the energy needs are increased due to the disease's metabolism, burdening the immune system and cicatrization process, symptoms caused by the disease hinder the intake and adequate absorption of nutrients, which may result in inadequate growth and development. Because this is a rare disease, there are few professionals who know the characteristics of both the clinical evolution and nutritional and dietary treatments. This literature review discusses the latest knowledge on energy and specific nutrient requirements to the dietary treatment and monitoring of children and adolescents with Epidermolysis Bullosa.

  17. Epidermolysis bullosa dystrophica associated with multiple esophageal strictures : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Kyung Seung; Jung, Gyoo Sik; Huh, Jin Do; Suh, Ki Seok; Joh, Young Duk [Kosin Univ., Pusan (Korea, Republic of). Coll. of Medicine; Choi, Sung Tack [Mariawhe Mercy Hospital. (Korea, Republic of)

    1998-02-01

    Epidermolysis bullosa dystrophica is a rare skin disease characterized by milia, nail dystrophy, and blistering of the skin and mucous membranes in response to minimal trauma. A forty years old main had typical lesions on the extremities, and the presence of distal phalangeal wedge deformity with soft tissue webbing was noted. Multiple segmental strictures and ulceration involved the cervical and distal esophagus was relieved. The authors describe a case involving multiple esophageal strictures and musculoskeletal lesion, with clinically and radiologically documented epidermolysis bullosa dystrophica. (author). 8 refs., 1 figs.

  18. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

    Science.gov (United States)

    Hernández-Martín, A; Cuadrado-Corrales, N; Ciria-Abad, S; Arias-Palomo, D; Mascaró-Galy, J M; Escámez, M J; García, M; Del Río, M; Torrelo, A; González-Sarmiento, R

    2010-01-01

    X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated. Copyright 2010 S. Karger AG, Basel.

  19. Keratin gel in the management of Epidermolysis bullosa.

    Science.gov (United States)

    Denyer, J; Marsh, C; Kirsner, R S

    2015-10-01

    Epidermolysis bullosa (EB) describes a number of genetically inherited conditions which cause skin fragility and minor trauma leading to skin damage, skin loss and wounding. Owing to the fragility of the skin and requirement for frequent dressing changes, at present, the optimal dressing(s) is not clear. Our objective was to assess the use of a keratin gel in the management of wounds in patients with different forms of EB. We treated patients with different types of EB and a range of wounds with a novel keratin gel. In a convenience sample of consecutive patients, we introduced the keratin gel into their treatment regimen maintaining other aspects of their care. Patients reported faster healing and more resilient healed skin. Of the ten patients treated in this pilot study, six found the gel effective; two found it ineffective; and in two patients, it caused itching leading to discontinuation of the treatment. The results of this case study series suggest that keratin gel can be useful in the management of EB and are consistent with previous published experiences.

  20. Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms

    Science.gov (United States)

    Nyström, Alexander; Thriene, Kerstin; Mittapalli, Venugopal; Kern, Johannes S; Kiritsi, Dimitra; Dengjel, Jörn; Bruckner-Tuderman, Leena

    2015-01-01

    Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB)—a severe skin fragility disorder associated with lifelong blistering and disabling progressive soft tissue fibrosis. Causative therapies for this complex disorder face major hurdles, and clinical implementation remains elusive. Here, we report an alternative evidence-based approach to ameliorate fibrosis and relieve symptoms in RDEB. Based on the findings that TGF-β activity is elevated in injured RDEB skin, we targeted TGF-β activity with losartan in a preclinical setting. Long-term treatment of RDEB mice efficiently reduced TGF-β signaling in chronically injured forepaws and halted fibrosis and subsequent fusion of the digits. In addition, proteomics analysis of losartan- vs. vehicle-treated RDEB skin uncovered changes in multiple proteins related to tissue inflammation. In line with this, losartan reduced inflammation and diminished TNF-α and IL-6 expression in injured forepaws. Collectively, the data argue that RDEB fibrosis is a consequence of a cascade encompassing tissue damage, TGF-β-mediated inflammation, and matrix remodeling. Inhibition of TGF-β activity limits these unwanted outcomes and thereby substantially ameliorates long-term symptoms. PMID:26194911

  1. PSEUDOSINDACTILIA EN EPIDERMÓLISIS BULLOSA Pseudosyndactylia in bullous epidermolysis

    Directory of Open Access Journals (Sweden)

    Enríque Vergara Amador

    2009-01-01

    Full Text Available La epidermólisis bullosa comprende un grupo de patologías que se caracterizan por la fragilidad de la piel, formación de ampollas, y en las formas distróficas, la formación de pseudosindactilias. Debido a lo exótico de la entidad y la dificultad para el enfoque de tratamiento, se presenta un caso clínico con desarrollo de pseudosindactilias, característico usualmente de las formas distróficas. Se describe en aspectos clínicos de la entidad, el tratamiento quirúrgico de las pseudosindactilias y de las contracturas en las manos, y se discuten aspectos de la enfermedad y de los tipos de tratamientoBullous epidermolysis comprises a group of pathologies characterized by skin fragility, formation of bullae and, in its dystrophic forms, by the formation of pseudosyndactylias. Due to the exotic nature of the disease and the difficulty in focusing its treatment, a case is presented in which pseudosyndactylias developed, a usual characteristic of the dystrophic forms. This article addresses clinical aspects of bullous epidermolysis, surgical treatment of pseudosyndactilia and hand contractures and other aspects of the disease and its treatment

  2. Heterakis spumosa Schneider, 1866 (Nematoda: Heterakidae in Rattus norvegicus (Rodentia: Muridae in Ica, Peru

    Directory of Open Access Journals (Sweden)

    Rufino Cabrera Ch.

    2014-06-01

    Full Text Available In this paper Heterakis spumosa Schneider, 1866 is redescribed. It is a parasitic heterakid nematoda living in the caecum of murid rodent, Rattus norvegícus "gray rat" from district of Parcona, province of Ica, Peru.

  3. Operon conservation and the evolution of trans-splicing in the phylum Nematoda

    National Research Council Canada - National Science Library

    Guiliano, David B; Blaxter, Mark L

    2006-01-01

    .... We surveyed five additional nematode species, representing three of the five major clades of the phylum Nematoda, for the presence of operons and the use of trans-spliced leaders in resolution...

  4. A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex

    NARCIS (Netherlands)

    Flohil, Sophie C.; Bolling, Maria C.; Kooi, Kristia A.; Lemmink, Henny H.; Jonkman, Marcel F.

    2010-01-01

    Epidermolysis bullosa simplex is an autosomal dominant inherited skin blistering disorder caused by mutations in the genes KRT5 or KRT14 coding for the basal epidermal keratins 5 and 14, respectively. We describe a novel heterozygous pathogenic missense mutation (KRT5:c.596A>T, p.Lys199Met) in a

  5. Interdisciplinary Management of Epidermolysis Bullosa in the Public Setting : The Netherlands as a Model of Care

    NARCIS (Netherlands)

    Duipmans, Jose C.; Jonkman, Marcel F.

    An interdisciplinary team approach, in which the treatment can be individualized to each patient and his or her family and tailored to the severity of the disease, is most beneficial to the patient with epidermolysis bullosa (EB). In the Netherlands, the Center for Blistering Diseases in Groningen

  6. Generaliseret epidermolysis bullosa dystrophicans og udvikling af spinocellulært karcinom

    DEFF Research Database (Denmark)

    Petersen, Rikke Børthy; Bonde, Christian T; Schmidt, Grethe

    2010-01-01

    Severe generalized dystrophic epidermolysis bullosa is described via a clinical case in an adult male. From the time of birth his skin was characterized by extensive blistering, slowly developing into chronic wounds with the formation of pseudosyndactyly. As he grew older extracutaneous involvement...

  7. Restrictions in oral functions caused by oral manifestations of epidermolysis bullosa

    NARCIS (Netherlands)

    Stellingsma, Cornelis; Dijkstra, Pieter; Dijkstra, Janke; Duipmans, Jose C.; Jonkman, Marcel F.; Dekker, Rienk

    2011-01-01

    Several forms of epidermolysis bullosa (EB) present oral manifestations. Blistering of the (peri) oral mucosa affects the opening of the mouth, the mobility of the tongue and lips, thereby restricting oral functions. We describe the prevalence and characteristics of oral manifestations of EB in

  8. Reduced Skin Blistering in Experimental Epidermolysis Bullosa Acquisita After Anti-TNF Treatment

    NARCIS (Netherlands)

    Hirose, Misa; Kasprick, Anika; Beltsiou, Foteini; Dieckhoff, Katharina Schulze; Schulze, Franziska Sophie; Samavedam, Unni K. J. S. R. L.; Hundt, Jennifer E.; Pas, Hendri H.; Jonkman, Marcel F.; Schmidt, Enno; Kalies, Kathrin; Zillikens, Detlef; Ludwig, Ralf J.; Bieber, Katja

    2016-01-01

    Epidermolysis bullosa acquisita (EBA) is a difficult-to-treat subepidermal autoimmune blistering skin disease (AIBD) with circulating and tissue-bound anti-type VII collagen antibodies. Different reports have indicated increased concentration of tumor necrosis factor a (TNF) in the serum and blister

  9. Sensitive and specific assays for routine serological diagnosis of epidermolysis bullosa acquisita

    NARCIS (Netherlands)

    Komorowski, Lars; Mueller, Ralf; Vorobyev, Artem; Probst, Christian; Recke, Andreas; Jonkman, Marcel F.; Hashimoto, Takashi; Kim, Soo-Chan; Groves, Richard; Ludwig, Ralf J.; Zillikens, Detlef; Stoecker, Winfried; Schmidt, Enno

    Background: Epidermolysis bullosa acquisita (EBA) is a severe autoimmune subepidermal blistering disease characterized by autoantibodies against the N-terminal collagenous domain (NC1) of type VII collagen (Col VII). Objective: Development of reliable assays for the detection of anti-Col VII-NC1

  10. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

    NARCIS (Netherlands)

    Bolling, M. C.; Lemmink, H. H.; Jansen, G. H. L.; Jonkman, M. F.

    P>Background Epidermolysis bullosa simplex (EBS) is a mechanobullous genodermatosis that may be caused by mutations in the genes KRT5 and KRT14 encoding the basal epidermal keratins 5 (K5) and 14 (K14). Three main clinical subtypes of EBS exist, differing in onset, distribution and severity of skin

  11. Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations

    NARCIS (Netherlands)

    Turcan, Iana; Pasmooij, Anna M. G.; Van den Akker, Peter C.; Lemmink, Henny; Sinke, Richard J.; Jonkman, Marcel F.

    2016-01-01

    IMPORTANCE Epidermolysis bullosa simplex (EBS) is a group of clinically and genetically diverse mechanobullous genodermatoses characterized by the fragility of skin and mucous membranes. Recently, mutations in EXPH5 encoding exophilin-5 (also known as Slac2-b, an effector protein involved in

  12. Dystrophic epidermolysis bullosa : novel insights into the genotype-phenotype correlation and somatic mosaicism

    NARCIS (Netherlands)

    Akker, Peter Christiaan van den

    2013-01-01

    Dystrofische epidermolysis bullosa (DEB) is een erfelijke huidaandoening, veroorzaakt door mutaties in het COL7A1 gen. Bij DEB ontstaan reeds door geringe wrijving blaren van de huid en slijmvliezen. Hoewel bepaalde verbanden tussen het genotype - de COL7A1 mutatie(s) - en het fenotype - de uiting

  13. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy

    NARCIS (Netherlands)

    Gostynski, A.; Deviaene, F. C. L.; Pasmooij, A. M. G.; Pas, H. H.; Jonkman, M. F.

    Background Replacing mutant skin in epidermolysis bullosa (EB) by epithelial sheets of transduced autologous keratinocytes is the essential surgical step of ex vivo gene therapy. The same applies for revertant cell therapy in which epithelial sheets of revertant autologous keratinocytes are used.

  14. Helminth parasites (Cestoidea: Nematoda) of select herpetofauna from Paraguay.

    Science.gov (United States)

    McAllister, Chris T; Bursey, Charles R; Freed, Paul S

    2010-02-01

    Thirty-four amphibians (6 families, 12 species) and 28 reptiles (5 families, 16 species) from Paraguay were examined for helminths. Fifteen (44%) amphibians and 6 (21%) reptiles were found to harbor at least 1 species of helminth; 4 (12%) amphibians and 2 (7%) reptiles harbored multiple infections. Three species of Cestoidea and 17 species of Nematoda were found in the herptiles surveyed. Fourteen new host and 12 new locality records are documented, including the first report of the filaroid nematode, Macdonaldius grassi (Caballero, 1954) Chabaud and Frank, 1961, from South America.

  15. The successful use of extracorporeal photopheresis in a 12-year-old patient with refractory epidermolysis bullosa acquisita

    DEFF Research Database (Denmark)

    Liszewski, Walter; Omland, Silje Haukali; Gniadecki, Robert

    2015-01-01

    Epidermolysis bullosa acquisita is a rare autoimmune bullous disease of the mucosa and skin characterized by the presence of anti-collagen VII antibodies at the dermoepidermal junction. Most patients respond to immunosuppressive or antiinflammatory agents, although patients whose condition is ref...... is refractory to these therapies will require more aggressive treatment. We present a 12-year-old girl with refractory epidermolysis bullosa acquisita who responded to extracorporeal photopheresis....

  16. The Prevalence of Concha Bullosa and Nasal Septal Deviation and Their Relationship to Maxillary Sinusitis by Volumetric Tomography

    Directory of Open Access Journals (Sweden)

    Kyle D. Smith

    2010-01-01

    Full Text Available The objective of this study was to determine the prevalence of concha bullosa and nasal septal deviation and their potential relationships to maxillary sinusitis. 883 CT scans taken at Creighton University School of Dentistry from 2005 to 2008 were retrospectively reviewed for the presence of concha bullosa, nasal septal deviation, and maxillary sinusitis. 67.5% of patients exhibited pneumatization of at least one concha, 19.4% of patients had a deviated septum, and 50.0% had mucosal thickening consistent with maxillary sinusitis. 49.3% of patients who had concha bullosa also had evidence of maxillary sinusitis. Only 19.5% of patients with concha bullosa also had nasal septal deviation, whereas 19.7% of patients with sinusitis also presented with nasal septal deviation. Although concha bullosa is a common occurrence in the nasal cavity, there did not appear to be a statistically significant relationship between the presence of concha bullosa or nasal septal deviation and maxillary sinusitis.

  17. Surgical management of hand deformities in hereditary dystrophic epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Panajotović Ljubomir

    2003-01-01

    Full Text Available In the period 1996-2001 in the Clinic for Plastic Surgery and Burns of the Military Medical Academy, 18 patients. 12 male and 6 female, with hereditary dystrophic epidermolysis bullosa (HDEB and hand deformities were surgically treated, to achieve the complete separation of fingers, correction of the thumb adduction contracture and flexion or extension contracture of finger joints. The period of wound healing on flat surfaces after surgery, and the period between two operations was estimated. The most common deformity was the flexion contractures of metacarpophalangeal (MP joints (45% and one or both interphalangeal (IP joints (types A1, A2. In 20% of the hands MP joint was streched with the flexion contracture in distal interphalangeal (DIP or both IP joints (types B1, B2. In 35% of hands MP joint was in hyperextension with folded proximal interphalangeal (PIP or both IP joints (C1 i C2. The adduction deformity of the thumb type 1, without the possibility of abduction, was present in 15%, type 2, when the thumb was placed above the palm in 60% and type 3, when the thumb was fused in the palm in 25%. Pseudosyndactyly of the first degree (till PIP joint was found in 30% of hands, the second degree (till DIP joint in 25%, and the third degree (the whole finger length in 45% of hands. Fingers were completely separated and stretched surgically. The period of spontaneous healing was 15 days on the average. EBDC represents great medical and social problem that requires multidisciplinary approach of physicians of various specialties (surgeons, dermatologists, pediatrists, geneticists, nutritionists physiatrists, ophtalmologists, dentists, ENT, as well as specially trained persons and families. The efficient specific systemic therapy aiming to increase the skin resistence to mechanical trauma does not exist yet, and should be developed in the field of gene therapy. The surgical correction of hand deformities, acrylate glove use in the longer post

  18. Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa-Hallopeau-Siemens: a report of four cases.

    Science.gov (United States)

    Dammak, Anis; Zribi, Jihen; Boudaya, Sonia; Mseddi, Madiha; Meziou, Taha Jalel; Masmoudi, Abderrahmen; Ellouze, Zoubair; Keskes, Hassib; Turki, Hamida

    2009-06-01

    Recessive dystrophic epidermolysis bullosa (RDEB), an autosomal-recessive genodermatosis, is one of the more severe forms of the epidermolysis bullosa dystrophica group, and is characterized by generalized blistering of the skin and mucous membranes. Cutaneous squamous cell carcinoma is one of the most serious complications of this disease. We report four patients (three females and one male), two of whom were under 20 years of age, suffering from RDEB-Hallopeau-Siemens. All patients developed well-differentiated squamous cell carcinoma. No metastases were detected. All cases were treated surgically. Fatal evolution was noted in one patient. A second tumor was detected in another patient during the follow-up period. No further tumors or metastases were observed in the other patients. Regular clinical and histologic examination of any nodular lesions or non healing ulcers of all patients suffering from RDEB-Hallopeau-Siemens to detect an early malignancy is recommended.

  19. Dental and Anaesthetic Challenges in a Patient with Dystrophic Epidermolysis Bullosa

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    Ali Al-Abadi

    2016-11-01

    Full Text Available Epidermolysis bullosa is a group of rare genetic disorders characterised by skin and mucous membrane fragility and systemic manifestations of variable severity. We report a case of dystrophic epidermolysis bullosa in an 18-year-old male patient who presented to the Department of Oral Health at Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with recurrent dental pain and infections. Due to the poor dental status of the patient and anticipated operative difficulties due to microstomia and limited mouth opening, the patient underwent full dental clearance under general anaesthesia. This article discusses the dental and anaesthetic challenges encountered during the management of this patient and provides a brief literature review.

  20. Successful use of ketamin combined with remifentanil in two patients with epidermolysis bullosa

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    İlker Öngüç Aycan

    2012-09-01

    Full Text Available Epidermolysis Bullosa (EB is characterized by the presenceof extremely fragile skin and painful blister formationsin the skin. We present the anesthetic managementof 15-years-old, twin sisters with EB during the syndactylyoperation. Premedication was done with 0.5 mg/kg nasalmidazolam. Anesthesia induction was performed withsevoflurane without touching the facial masks to the skin.After intravenous 2 mg/kg ketamine and 50 μg fentanyl,anesthesia was maintained by intravenous 1 mg/kg/hrketamine and 0.1 μg/kg/min remifentanil. We injected 2mg intravenous morphine for postoperative pain control.Ketamine with remifentanil seems to be effective, simple,and safe for airway management and practical way toprovide general anesthesia and analgesia of EB. J ClinExp Invest 2012; 3 (3: 395-397Key words: Epidermolysis bullosa, ketamin, remifentanil,anesthesia

  1. Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation

    NARCIS (Netherlands)

    Koss-Harnes, D; Hoyheim, B; Jonkman, MF; De Groot, WP; De Weerdt, CJ; Nikolic, B; Wiche, G; Gedde-Dahl, T

    Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy. A dominant mutation in the gene was found to cause epidermolysis bullosa simplex Ogna

  2. Angina Bullosa Hemorrhagica with a Possible Relation to Dental Treatment, Diabetes Mellitus, Steroid Inhaler and Local Trauma: Report of 3 Cases

    Directory of Open Access Journals (Sweden)

    S M Ravi Prakash

    2010-01-01

    Full Text Available Angina bullosa hemorrhagica is a rare condition characterized by one or more blood filled blisters or bullae predominantly in the soft palate region caused either by local mucosal trauma, dental treatment, underlying systemic conditions or use of steroid inhalers. We report three cases of angina bullosa hemorrhagica with different etiological factors.

  3. Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type : Report of 7 cases and a review of the literature

    NARCIS (Netherlands)

    Yuen, Wing Yan; Jonkman, Marcel F.

    2011-01-01

    Background: Squamous cell carcinoma (SCC) is the most severe complication and most common cause of death in patients with recessive dystrophic epidermolysis bullosa. The risk of developing SCC among patients with junctional epidermolysis bullosa (JEB) is unclear from the literature; however, in our

  4. Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

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    Lisieux Eyer de Jesus

    2014-10-01

    Full Text Available Epidermolysis bullosa (EB is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.

  5. RESUME La pneumatisation, ou concha bullosa du cornet inférieur ...

    African Journals Online (AJOL)

    RESUME. La pneumatisation, ou concha bullosa du cornet inférieur est constatation rare de découverte essentiellement radiolo- gique. Elle est souvent découverte de façon fortuite à l'occasion du bilan étiologique d'une insuffisance nasale chronique ou d'un dysfonctionnement sinusien à répétition ou chronique. Elle est ...

  6. Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa

    OpenAIRE

    Tampoia, Marilina; Bonamonte, Domenico; Filoni, Angela; Garofalo, Lucrezia; Morgese, Maria Grazia; Brunetti, Luigia; Di Giorgio, Chiara; Annicchiarico, Giuseppina

    2013-01-01

    Background Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes. There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction. For the first time in literature,...

  7. Epidermolysis Bullosa Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.

    Science.gov (United States)

    Guerra, Liliana; Condorelli, Angelo Giuseppe; Fortugno, Paola; Calabresi, Valentina; Pedicelli, Cristina; Di Zenzo, Giovanni; Castiglia, Daniele

    2017-11-28

    Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been provided for only 1 individual with dominant dystrophic epidermolysis bullosa (DDEB). We describe here a patient who presented with dystrophic toenails since early childhood and developed trauma-induced skin blisters and oral erosions at age 26 years. Direct immunofluorescence showed IgG deposits with a u-serrated pattern along the cutaneous basement membrane zone, while no change in the expression of collagen VII could be detected by antigen mapping. High-titre anti-collagen VII antibodies were detected by enzyme-linked immunoassay (ELISA). In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB). Thus, our patient had RDEB "nails-only" and developed mechanobullous EBA in adulthood. These data support a pathogenic role of circulating autoantibodies to collagen VII in inducing EBA in selected patients with DEB. Unforeseen worsening of skin symptoms in DEB should prompt laboratory investigations for EBA.

  8. Evolution of plant parasitism in the phylum Nematoda.

    Science.gov (United States)

    Quist, Casper W; Smant, Geert; Helder, Johannes

    2015-01-01

    Within the species-rich and trophically diverse phylum Nematoda, at least four independent major lineages of plant parasites have evolved, and in at least one of these major lineages plant parasitism arose independently multiple times. Ribosomal DNA data, sequence information from nematode-produced, plant cell wall-modifying enzymes, and the morphology and origin of the style(t), a protrusible piercing device used to penetrate the plant cell wall, all suggest that facultative and obligate plant parasites originate from fungivorous ancestors. Data on the nature and diversification of plant cell wall-modifying enzymes point at multiple horizontal gene transfer events from soil bacteria to bacterivorous nematodes resulting in several distinct lineages of fungal or oomycete-feeding nematodes. Ribosomal DNA frameworks with sequence data from more than 2,700 nematode taxa combined with detailed morphological information allow for explicit hypotheses on the origin of agronomically important plant parasites, such as root-knot, cyst, and lesion nematodes.

  9. Recent and fossil nematode parasites (Nematoda: Mermithidae) of neotropical ants.

    Science.gov (United States)

    Poinar, George; Lachaud, Jean-Paul; Castillo, Alfredo; Infante, Francisco

    2006-01-01

    The following new recent species of mermithid (Nematoda) parasites of Neotropical ants are described: Meximermis ectatommi n.gen., n. sp. from workers of Ectatomma ruidum Roger in Southern Mexico, Agamomermis cephaloti n. sp. from a worker of Cephalotes minutus (Fab.) collected in Brazil, Agamomermis ecitoni n. sp. from a worker of Eciton burchellii Westwood collected in Venezuela and Agamomermis costaricensis n. sp. from a worker of Odontomachus hastatus (Fab.) collected in Costa Rica. In addition, a fossil mermithid parasite of a worker of Linepithema sp. from Dominican amber is described as Heydenius myrmecophila n. sp. These parasites represent the first descriptions of Neotropical ant mermithids and together with previous records listed here, show that ant infection by mermithids in the Neotropics is widespread and has occurred for at least 20-30 million years.

  10. On the evolution of early development in the Nematoda.

    Science.gov (United States)

    Goldstein, B

    2001-10-29

    The phylum Nematoda serves as an excellent model system for exploring how development evolves, using a comparative approach to developmental genetics. More than 100 laboratories are studying developmental mechanisms in the nematode Caenorhabditis elegans, and many of the methods that have been developed for C. elegans can be applied to other nematodes. This review summarizes what is known so far about steps in early development that have evolved in the nematodes, and proposes potential experiments that could make use of these data to further our understanding of how development evolves. The promise of such a comparative approach to developmental genetics is to fill a wide gap in our understanding of evolution--a gap spanning from mutations in developmental genes through to their phenotypic results, on which natural selection may act.

  11. Morphological and molecular characterization of Strongyloides ophidiae (Nematoda, Strongyloididae).

    Science.gov (United States)

    dos Santos, K R; Carlos, B C; Paduan, K S; Kadri, S M; Barrella, T H; Amarante, M R V; Ribolla, P E M; da Silva, R J

    2010-06-01

    The aim of the present study is to report morphological data from parasitic female, rhabditoid and filarioid larvae, free-living female worms and eggs of Strongyloides ophidiae (Nematoda, Strongyloididae). In addition, a molecular DNA analysis was carried out using a pool of eight S. ophidiae parasitic females. Samples were obtained from the small intestine of Oxyrhopus guibei (Serpentes, Colubridae) collected in the municipality of Lençóis Paulista, State of São Paulo, Brazil. DNA amplification by polymerase chain reaction (PCR) resulted in a 350 bp band for samples containing S. ophidiae and Strongyloides venezuelensis DNA. Strongyloides ophidiae nucleotide sequence analysis showed 98% similarity with Strongyloides procyonis and 97% with Strongyloides cebus, Strongyloides stercoralis, Strongyloides fuelleborni and Strongyloides sp. from snakes.

  12. Prevalensi Cacing Nematoda Saluran Pencernaan pada Kambing Peranakan Ettawa di Kecamatan Siliragung, Kabupaten Banyuwangi, Jawa Timur

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    Taufik Mukti

    2016-08-01

    Full Text Available Penelitian ini bertujuan untuk mengetahui prevalensi cacing nematoda saluran pencernaanpada kambing Peranakan Ettawa di Kecamatan Siliragung Kabupaten Banyuwangi, Jawa Timur.Sampel feses diambil dari 160 ekor kambing Peranakan Ettawa yang dipilih secara purposivesampling pada setiap desa di Kecamatan Siliragung Kabupaten Banyuwangi, Jawa Timur. Fesesdiperiksa dengan uji apung untuk mendeteksi keberadaan telur cacing nematoda saluran pencernaanberdasarkan morfologinya. Hasil penelitian didapatkan bahwa dari 160 sampel feses kambingPeranakan Ettawa ditemukan sebanyak 83 sampel (51,9% positif telur cacing nematoda saluranpencernaan tipe Strongyl. Berdasarkan umur, prevalensi pada kambing muda (umur di bawah 12bulan dan kambing dewasa (umur 12 bulan ke atas masing-masing adalah 37,5% dan 66,3%.

  13. Prevalensi Infeksi Cacing Nematoda Saluran Pencernaan pada Sapi Bali di Tempat Pembuangan Akhir (TPA Suwung Denpasar

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    Indri Agustin Stevi Sajuri

    2016-12-01

    Full Text Available Penelitian ini bertujuan untuk mengetahui prevalensi infeksi cacing nematoda saluran pencernaan yang menginfeksi sapi bali yang dipelihara di Tempat Pembuangan Akhir (TPA, Suwung Denpasar. Sampel penelitian adalah feses sapi bali berjumlah 100 sampel diperiksa dengan metode kosentrasi apung menggunakan larutan NaCl jenuh sebagai zat pengapung. Parameter yang diamati adalah melihat jenis telur cacing nematoda saluran pencernaan yang menginfeksi sapi bali. Data yang diperoleh dilaporkan secara deskriptif. Hasil penelitian didapatkan bahwa prevalensi infeksi cacing nematoda saluran pencernaan pada sapi bali di TPA sebesar 30%. Jenis cacing yang menginfeksi saluran pencernaan sapi bali ditemukan jenis cacing tipe strongyl sebesar 28% dan cacing strongyloides sp sebesar 8%. Berdasarkan hasil penelitian dapat disarankan bahwa lingkungan TPA Suwung Denpasar kurang layak digunakan untuk memelihara sapi bali.

  14. Potential conservation of circadian clock proteins in the phylum Nematoda as revealed by bioinformatic searches.

    Directory of Open Access Journals (Sweden)

    Andrés Romanowski

    Full Text Available Although several circadian rhythms have been described in C. elegans, its molecular clock remains elusive. In this work we employed a novel bioinformatic approach, applying probabilistic methodologies, to search for circadian clock proteins of several of the best studied circadian model organisms of different taxa (Mus musculus, Drosophila melanogaster, Neurospora crassa, Arabidopsis thaliana and Synechoccocus elongatus in the proteomes of C. elegans and other members of the phylum Nematoda. With this approach we found that the Nematoda contain proteins most related to the core and accessory proteins of the insect and mammalian clocks, which provide new insights into the nematode clock and the evolution of the circadian system.

  15. Potential Conservation of Circadian Clock Proteins in the phylum Nematoda as Revealed by Bioinformatic Searches

    Science.gov (United States)

    Romanowski, Andrés; Garavaglia, Matías Javier; Goya, María Eugenia; Ghiringhelli, Pablo Daniel; Golombek, Diego Andrés

    2014-01-01

    Although several circadian rhythms have been described in C. elegans, its molecular clock remains elusive. In this work we employed a novel bioinformatic approach, applying probabilistic methodologies, to search for circadian clock proteins of several of the best studied circadian model organisms of different taxa (Mus musculus, Drosophila melanogaster, Neurospora crassa, Arabidopsis thaliana and Synechoccocus elongatus) in the proteomes of C. elegans and other members of the phylum Nematoda. With this approach we found that the Nematoda contain proteins most related to the core and accessory proteins of the insect and mammalian clocks, which provide new insights into the nematode clock and the evolution of the circadian system. PMID:25396739

  16. Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.

    Directory of Open Access Journals (Sweden)

    Alexander Nyström

    Full Text Available Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone. Both recessive and dominant forms are known; the latter account for about 40% of cases. Patients with dominant dystrophic epidermolysis bullosa exhibit a spectrum of symptoms ranging from mild localized to generalized skin manifestations. Individuals with the same mutation can display substantial phenotypic variance, emphasizing the role of modifying genes in this disorder. The etiology of dystrophic epidermolysis bullosa has been known for around two decades; however, important pathogenetic questions such as involvement of modifier genes remain unanswered and a causative therapy has yet to be developed. Much of the failure to make progress in these areas is due to the lack of suitable animal models that capture all aspects of this complex monogenetic disorder. Here, we report the first rat model of dominant dystrophic epidermolysis bullosa. Affected rats carry a spontaneous glycine to aspartic acid substitution, p.G1867D, within the main structural domain of collagen VII. This confers dominant-negative interference of protein folding and decreases the stability of mutant collagen VII molecules and their polymers, the anchoring fibrils. The phenotype comprises fragile and blister-prone skin, scarring and nail dystrophy. The model recapitulates all signs of the human disease with complete penetrance. Homozygous carriers of the mutation are more severely affected than heterozygous ones, demonstrating for the first time a gene-dosage effect of mutated alleles in dystrophic epidermolysis bullosa. This novel viable and workable animal model for dominant dystrophic epidermolysis bullosa will be valuable for addressing molecular disease mechanisms, effects of modifying genes, and development of novel molecular therapies for patients

  17. Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.

    Science.gov (United States)

    Kayki, Gozdem; Bozkaya, Davut; Ozaltin, Fatih; Orhan, Diclehan; Kaymaz, Figen; Korkmaz, Emine; Yigit, Sule

    2017-08-01

    Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis. We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. The previously unreported homozygous c.3793+1G>A mutation affecting ITGB4 causes a severe form of junctional epidermolysis bullosa with pyloric atresia and aplasia cutis.

  18. An emerging example of tritrophic coevolution between flies (Diptera: Fergusoninidae) and nematodes (Nematoda: Neotylenchidae) on Myrtaceae host plants

    Science.gov (United States)

    A unique obligate mutualism occurs between species of Fergusonina Malloch flies (Diptera: Fergusoninidae) and nematodes of the genus Fergusobia Currie (Nematoda: Neotylenchidae). These mutualists together form different types of galls on Myrtaceae, mainly in Australia. The galling association appear...

  19. Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008.

    Science.gov (United States)

    Goldschneider, Kenneth; Lucky, Anne W; Mellerio, Jemima E; Palisson, Francis; del Carmen Viñuela Miranda, Maria; Azizkhan, Richard G

    2010-09-01

    Epidermolysis bullosa (EB) has become recognized as a multisystem disorder that poses a number of pre-, intra-, and postoperative challenges. While anesthesiologists have long appreciated the potential difficult intubation in patients with EB, other systems can be affected by this disorder. Hematologic, cardiac, skeletal, gastrointestinal, nutritional, and metabolic deficiencies are foci of preoperative medical care, in addition to the airway concerns. Therefore, multidisciplinary planning for operative care is imperative. A multinational, interdisciplinary panel of experts assembled in Santiagio, Chile to review the best practices for perioperative care of patients with EB. This paper presents guidelines that represent a synthesis of evidence-based approaches and the expert consensus of this panel and are intended to aid physicians new to caring for patients with EB when operative management is indicated. With proper medical optimization and attention to detail in the operating room, patients with EB can have an uneventful perioperative course.

  20. Phylogenetic relationships within the phylum Nematoda as revealed by ribosomal DNA, and their biological implications

    NARCIS (Netherlands)

    Holterman, M.H.M.

    2007-01-01

    Nematodes – “eel worms”; members of the phylum Nematoda – can be considered as a success story within the Metazoa (multicellular, heterotrophic eukaryotes in which cells lack cell walls): they are speciose and – probably - the most numerous group of multicellular animals on our planet. Nematodes are

  1. Teaching Population Growth Using Cultures of Vinegar Eels, "Turbatrix aceti" (Nematoda)

    Science.gov (United States)

    Wallace, Robert L.

    2005-01-01

    A simple laboratory exercise is presented that follows the population growth of the common vinegar eel, "Turbatrix aceti" (Nematoda), in a microcosm using a simple culture medium. It lends itself to an exercise in a single semester course. (Contains 4 figures.)

  2. Larval Spirurida (Nematoda) from the crab Macrophthalmus hirtipes in New Zealand

    Czech Academy of Sciences Publication Activity Database

    Moravec, František; Fredensborg, B. L.; Latham, A. D. M.; Poulin, R.

    2003-01-01

    Roč. 50, č. 2 (2003), s. 109-114 ISSN 0015-5683 R&D Projects: GA AV ČR IAA6022201 Institutional research plan: CEZ:AV0Z6022909 Keywords : Nematoda * Ascarophis * larval Acuariidae Subject RIV: EA - Cell Biology Impact factor: 0.469, year: 2003

  3. New record of a parasitoid worm (Mermithidae, Nematoda in a spider of the genus Trochosa (Lycosidae

    Directory of Open Access Journals (Sweden)

    Meyer, Michael

    2014-12-01

    Full Text Available A nematode from the family Mermithidae (Nematoda was recorded parasitizing a spider of the genus Trochosa. The subadult Trochosa-female was found in a semi-dry calcareous grassland in the valley Leutratal, south of the city of Jena, Thuringia, Germany.

  4. Epidermolysis bullosa: Careful monitoring and no touch principle for anesthesia management

    Directory of Open Access Journals (Sweden)

    Sujit V Saraf

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB is a rare genetic mechanobullous disorder, with excessive fragility of the skin and mucous membranes. Avoiding mechanical injury to the skin and mucous membranes is essential in the anesthetic management. Shearing forces applied to the skin result in bullae formation, while compressive forces to the skin are tolerated. The challenge is to use monitoring technology without damaging the epithelial surface. Difficult airway, positioning issues, nutritional deficiencies, poor immunity, and carcinogenic potential add to the comorbidities. We managed a child with EB undergoing syndactyly release. Ensuring maximal skin and mucous membrane protection, anesthesia in children with EB can be conducted with few sequelae.

  5. A Simple Method for Prosthodontic Rehabilitation of Edentulous Patient with Epidermolysis Bullosa: A Clinical Case Report

    Directory of Open Access Journals (Sweden)

    Farhang Mahboub

    2011-06-01

    Full Text Available An abnormally small oral orifice is defined as microstomia. Microstomia may result from epidermolysis bullosa (EB, which consists of a group of disorders characterized by the presence of mechanical fragility of the skin with recurrent development of blisters and vesicles, resulting from minor mechanical friction or trauma. Since such patients have a small oral aperture, it may be impossible to take impression and fabricate dentures using conventional methods. In this article, a simple method for taking preliminary impressions from upper and lower edentulous ridges in one patient with limited mouth opening and then preparing the complete denture with custom denture teeth in a single unit was described.

  6. [Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].

    Science.gov (United States)

    Lubach, D; Riechers, U

    1982-09-01

    A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.

  7. Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.

    Science.gov (United States)

    Akasaka, Eijiro; Nakano, Hajime; Takagi, Yuriko; Toyomaki, Yuka; Sawamura, Daisuke

    2017-03-01

    We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (DDEB) harboring the p.G2251E mutation of COL7A1. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of blistering and subsequently developed generalized intractable blisters, suggesting that multiple milia could be a primary manifestation of DDEB. Her mother exhibited nail dystrophy and pruritic nodules and her elder sister was unaffected, despite having the same COL7A1 mutation. Inter- and intrafamilial clinical variability are often observed in DDEB, so we should be aware of this factor to provide appropriate genetic counselling. © 2016 Wiley Periodicals, Inc.

  8. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

    DEFF Research Database (Denmark)

    Sørensen, Charlotte B; Andresen, Brage S; Jensen, Uffe B

    2003-01-01

    Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited skin disorders characterized by the development of intra-epidermal skin blisters on mild mechanical trauma. The three major clinical subtypes (Weber-Cockayne, Koebner and Dowling-Meara) are all caused by mutations...

  9. Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa

    NARCIS (Netherlands)

    Stouthamer, A; Nieboer, C; Van der Waal, RIF; Jonkman, MF

    We describe two siblings with late-onset junctional epidermolysis bullosa (JEB) (formerly called epidermolysis junctionalis progressiva). This is a subtype of autosomal recessive JEB characterized by late onset of the symptoms, between the ages of 5 and 8 years. The symptoms are mechanobullous

  10. Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa

    NARCIS (Netherlands)

    Yuen, Wing Yan; Huizinga, Janneke; Jonkman, Marcel F.

    Background: Epidermolysis bullosa (EB) is a genetic, heterogeneous, trauma-induced blistering disease. Patients with laminin-332-deficient non-Herlitz junctional EB (JEB-nH) can have impaired wound healing witnessed by persistent, small, deep ulcers on the hands and feet that adversely affect the

  11. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein

    NARCIS (Netherlands)

    Kahofer, P; Bruckner-Tuderman, L; Metze, D; Lemmink, H; Scheffer, H; Smolle, J

    2003-01-01

    Epidermolysis bullosa dystrophica inversa (DEB-I) is a very rare disease characterized by autosomal recessive inheritance that causes blistering and erosions on the trunk and extremities occurring in early infancy with a predilection for flexural and mucosal areas thereafter. Ultrastructural

  12. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

    NARCIS (Netherlands)

    Jonkman, MF; Heeres, K; Pas, HH; vanLuyn, MJ; Elema, JD; Corden, LD; Smith, FJD; McLean, WHI; Ramaekers, FCS; Scheffer, H; Burton, M.

    1996-01-01

    We studied a kindred with recessive epidermolysis bullosa simplex in which the affected members lacked expression of the basal cell keratin 14, The patients had severe generalized skin blistering that improved slightly with age, The basal cells of the patients did not express keratin 14 and

  13. Inflammatory variant of epidermolysis bullosa acquisita with IgG autoantibodies against type VII collagen and laminin alpha 3

    NARCIS (Netherlands)

    Jonkman, MF; Schuur, J; Dijk, F; Heeres, K; de Jong, MCJM; van der Meer, JB; Yancey, KB; Pas, HH

    Background: The inflammatory variant of epidermolysis bullosa acquisita (EBA) may clinically closely resemble bullous or cicatricial pemphigoid. Patients with inflammatory EBA have IgG autoantibodies against type VII collagen. Patients with anti-epiligrin cicatricial pemphigoid have IgG

  14. Nematoda: genes, genomes and the evolution of parasitism.

    Science.gov (United States)

    Blaxter, Mark L

    2003-01-01

    Nematodes are remarkably successful, both as free-living organisms and as parasites. The diversity of parasitic lifestyles displayed by nematodes, and the diversity of hosts used, reflects both a propensity towards parasitism in the phylum, and an adaptability to new and challenging environments. Parasitism of plants and animals has evolved many times independently within the Nematoda. Analysis of these origins of parasitism using a molecular phylogeny highlights the diversity underlying the parasitic mode of life. Many vertebrate parasites have arthropod-associated sister taxa, and most invade their hosts as third stage larvae: these features co-occur across the tree and thus suggest that this may have been a shared route to parasitism. Analysis of nematode genes and genomes has been greatly facilitated by the Caenorhabditis elegans project. However, the availability of the whole genome sequence from this free-living rhabditid does not simply permit definition of 'parasitism' genes; each nematode genome is a mosaic of conserved features and evolutionary novelties. The rapid progress of parasitic nematode genome projects focussing on species from across the diversity of the phylum has defined sets of genes that have patterns of evolution that suggest their involvement with various facets of parasitism, in particular the problems of acquisition of nutrients in new hosts and the evasion of host immune defences. With the advent of functional genomics techniques in parasites, and in particular the possibility of gene knockout using RNA interference, the roles of many putative parasitism genes call now be tested.

  15. Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita

    National Research Council Canada - National Science Library

    Yang, Baoqi; Wang, Chong; Chen, Shengli; Chen, Xuechao; Zhou, Guizhi; Tian, Hongqing; Yu, Meiling; Zhang, Dizhan; Shi, Zhongxiang; Zhang, Furen

    2011-01-01

    ...) is helpful to differentiate epidermolysis bullosa acquisita (EBA) from bullous pemphigoid (BP). Antibodies of BP may bind to the epidermal side of SSS, while antibodies of EBA bind to the dermal side...

  16. Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy

    NARCIS (Netherlands)

    Bornert, Olivier; Kuhl, Tobias; Bremer, Jeroen; van den Akker, Peter C.; Pasmooij, Anna M. G.; Nystrom, Alexander

    Genetically evoked deficiency of collagen VII causes dystrophic epidermolysis bullosa (DEB)-a debilitating disease characterized by chronic skin fragility and progressive fibrosis. Removal of exons carrying frame-disrupting mutations can reinstate protein expression in genetic diseases. The

  17. Epidermolysis bullosa simplex with mottled pigmentation : Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients

    NARCIS (Netherlands)

    Moog, U; de Die-Smulders, CEM; Scheffer, H; van der Vlies, P; Henquet, CJM; Jonkman, MF

    1999-01-01

    Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5

  18. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.

    Science.gov (United States)

    Ben Brick, Ahlem Sabrine; Laroussi, Nadia; Mesrati, Hela; Kefi, Rym; Bchetnia, Mbarka; Lasram, Khaled; Ben Halim, Nizar; Romdhane, Lilia; Ouragini, Houyem; Marrakchi, Salaheddine; Boubaker, Mohamed Samir; Meddeb Cherif, Mounira; Castiglia, Daniele; Hovnanian, Alain; Abdelhak, Sonia; Turki, Hamida

    2014-05-01

    Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic epidermolysis bullosa (RDEB-SG)] subtype, which is inherited in an autosomal recessive manner. This subtype is most often due to COL7A1 mutations resulting in a premature termination codon on both alleles. We report here, the molecular investigation of 15 patients belonging to 14 nuclear families from the city of Sfax in Southern Tunisia, with clinical features of RDEB-SG complicated by squamous cell carcinoma in 3 patients. We identified two novel mutations, p.Val769LeufsX1 and p.Ala2297SerfsX91, in addition to one previously reported mutation (p.Arg2063Trp). The p.Val769LeufsX1 mutation was shared by 11 families and haplotype analysis indicated that it is a founder mutation. The p.Ala2297SerfsX91 mutation was a private mutation found in only one family. Together with the previously described recurrent mutations in Tunisia, screening for the founder p.Val769LeufsX1 mutation should provide a rapid molecular diagnosis tool for mutation screening in RDEB patients from Southern Tunisia and possibly from other Mediterranean populations sharing the same genetic background.

  19. Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Pendaries, V; Gasc, G; Titeux, M; Leroux, C; Vitezica, Z G; Mejía, J E; Décha, A; Loiseau, P; Bodemer, C; Prost-Squarcioni, C; Hovnanian, A

    2010-07-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe genodermatosis caused by loss-of-function mutations in COL7A1 encoding type VII collagen, the component of anchoring fibrils. As exogenous type VII collagen may elicit a deleterious immune response in RDEB patients during upcoming clinical trials of gene therapies or protein replacement therapies, we developed enzyme-linked immunosorbent assay (ELISA) and enzyme-linked immunosorbent spot (ELISPOT) assays to analyze B- and T-cell responses, to the full-length type VII collagen. The ELISA was highly sensitive and specific when tested against sera from 41 patients with epidermolysis bullosa acquisita (EBA), and the IFN-gamma ELISPOT detected a cellular response that correlated with ongoing EBA manifestations. Both tests were next applied to assess the risk of an immune response to type VII collagen in seven RDEB patients with a range of type VII collagen expression profiles. Immune responses against type VII collagen were dependent on the expression of type VII collagen protein, and consequently on the nature and position of the respective COL7A1 mutations. These immunologic tests will be helpful for the selection of RDEB patients for future clinical trials aiming at restoring type VII collagen expression, and in monitoring their immune response to type VII collagen after treatment.

  20. Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

    Directory of Open Access Journals (Sweden)

    Rashidghamat E

    2017-02-01

    Full Text Available Ellie Rashidghamat,1 Jemima E Mellerio,1,2 1St John’s Institute of Dermatology, King’s College London, 2St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Abstract: Epidermolysis bullosa (EB is a clinically and genetically heterogeneous group of severe inherited blistering diseases that affects 500,000 individuals worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma and show involvement of mucus membrane and other organs in some subtypes. Dystrophic EB (DEB is divided into 2 major types depending on the inheritance pattern: recessive DEB (RDEB and dominant DEB (DDEB. RDEB tends to be at the more severe end of the clinical spectrum and has a prevalence of 8 per 1 million of the population, accounting for approximately 5% of all cases of EB. RDEB is caused by loss-of-function mutations in the type VII collagen gene, COL7A1, which leads to reduced or absent type VII collagen (C7 and structurally defective anchoring fibrils at the dermal-epidermal junction. In this review, we will discuss the management of chronic wounds in individuals with DEB, highlighting the changes to practice and the novel therapies that may offer a solution to this debilitating and complex problem which is one of the greatest sources of morbidity in this disease. Keywords: epidermolysis bullosa, recessive dystrophic, dominant dystrophic, wound healing

  1. Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Hiram Larangeira de Almeida Jr

    2002-10-01

    Full Text Available O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5 e 14 (gen KRT14, o que modifica o citoesqueleto na camada basal da epiderme, levando à degeneração dessa camada, formando bolha intra-epidérmica. Mutações na plectina (gen PLEC1, componente da placa interna do hemidesmossoma, levam também à clivagem intra-epidérmica. Na epidermólise bolhosa juncional vários gens estão envolvidos, em decorrência da complexidade da zona da membrana basal, todos levando ao descolamento dos queratinócitos basais na lâmina lúcida, pela disfunção da aderência entre esses e a lâmina densa. Alterações na laminina 5 (gens LAMA3, LAMB3 e LAMC2, integrina alfa6beta4 (gens ITGA6 e ITGB4 e colágeno XVII (gen COL17A1 foram descritas. Por fim, na epidermólise bolhosa distrófica apenas um gen está mutado, alterando o colágeno VII (gen COL7A1, principal componente das fibrilas ancorantes, produzindo clivagem abaixo da lâmina densa, variando fenotipicamente de acordo com a conseqüência da mutação. Outra aplicação importante dessas informações refere-se ao diagnóstico pré-natal, com a perspectiva no futuro da terapia gênica.New data regarding the molecular aspects of the heterogeneous group of epidermolysis bullosa has brought some important information about its pathogenesis. In epidermolysis bullosa simplex the majority of mutations are localized in the genes of the basal cytokeratin 5 (gene KRT5 and 14 (gene KRT14, cytolysis at this layer with intraepidermal blister is seen under light microscopy. Mutations of plectin (gene PLEC1, a protein found in the inner hemidesmosomal plaque, leads also to intraepidermal blisters. In junctional epidermolysis bullosa many proteins from the basal membrane zone are involved, such as laminin 5 (genes

  2. Checklist of the phyla Platyhelminthes, Xenacoelomorpha, Nematoda, Acanthocephala, Myxozoa, Tardigrada, Cephalorhyncha, Nemertea, Echiura, Brachiopoda, Phoronida, Chaetognatha, and Chordata (Tunicata, Cephalochordata, and Hemichordata) from the coasts of Turkey

    OpenAIRE

    ÇINAR, Melih Ertan

    2015-01-01

    In this paper, the current status of the species diversity of 13 phyla, namely Platyhelminthes, Xenacoelomorpha, Nematoda, Acanthocephala, Myxozoa, Tardigrada, Cephalorhyncha, Nemertea, Echiura, Brachiopoda, Phoronida, Chaetognatha, and Chordata (invertebrates, only Tunicata, Cephalochordata, and Hemichordata) along the coasts of Turkey is reviewed. Platyhelminthes was represented by 186 species, Chordata by 64 species, Nemertea by 26 species, Nematoda by 20 species, Xenacoelomorpha by 11 spe...

  3. Species of Angiostrongylus (Nematoda: Metastrongyloidea in wildlife: A review

    Directory of Open Access Journals (Sweden)

    David M. Spratt

    2015-08-01

    Full Text Available Twenty-one species of Angiostrongylus plus Angiostrongylus sp. (Nematoda: Metastrongyloidea are known currently in wildlife. These occur naturally in rodents, tupaiids, mephitids, mustelids, procyonids, felids, and canids, and aberrantly in a range of avian, marsupial and eutherian hosts including humans. Adults inhabit the pulmonary arteries and right atrium, ventricle and vena cava, bronchioles of the lung or arteries of the caecum and mesentery. All species pass first-stage larvae in the faeces of the host and all utilise slugs and/or aquatic or terrestrial snails as intermediate hosts. Gastropods are infected by ingestion or penetration of first-stage larvae; definitive hosts by ingestion of gastropods or gastropod slime. Transmission of at least one species may involve ingestion of paratenic hosts. Five developmental pathways are identified in these life cycles. Thirteen species, including Angiostrongylus sp., are known primarily from the original descriptions suggesting limited geographic distributions. The remaining species are widespread either globally or regionally, and are continuing to spread. Small experimental doses of infective larvae (ca. 20 given to normal or aberrant hosts are tolerated, although generally eliciting a granulomatous histopathological response; large doses (100–500 larvae often result in clinical signs and/or death. Two species, A. cantonensis and A. costaricensis, are established zoonoses causing neurological and abdominal angiostrongliasis respectively. The zoonotic potential of A. mackerrasae, A. malaysiensis and A. siamensis particularly warrant investigation. Angiostrongylus cantonensis occurs in domestic animals, mammalian and avian wildlife and humans in the metropolitan areas of Brisbane and Sydney, Australia, where it has been suggested that tawny frogmouths and brushtail possums may serve as biosentinels. A major conservation issue is the devastating role A. cantonensis may play around zoos and fauna

  4. Identifikasi dan Prevalensi Cacing Nematoda Saluran Pencernaan pada Anak Babi di Bali

    Directory of Open Access Journals (Sweden)

    Ady Fendriyanto

    2015-10-01

    Full Text Available pencernaan pada anak babi yang dijual di pasar tradisional di wilayah Bali. Sampel yang digunakan dalam penelitian ini sebanyak 250 sampel feses anak babi yang berasal dari pasar ternak di Kabupaten Karangasem, Kabupaten Klungkung, Kabupaten Bangli, dan Kabupaten Gianyar. Sampel diperiksa dengan menggunakan metode sedimentasi formol ether dan diidentifikasi berdasarkan morfologi telur cacing. Berdasarkan penelitian ini didapatkan hasil bahwa prevalensi infeksi cacing nematoda saluran pencernaan pada anak babi yang dijual dipasar tradisional adalah sebanyak 71,6% (179/250. Setelah dilakukan identifikasi diketahui ada empat jenis cacing nematoda saluran pencernaan yaitu, Ascaris suum, Trichuris suis, cacing tipe Strongyl dan Macrachantorynchus dengan prevalensi masing – masing sebesar 33,2%, 14,0%, 57,6% dan 2%.

  5. New molecular data for parasites Hammerschmidtiella indicus and Thelandros scleratus (Nematoda: Oxyurida) to infer phylogenetic position

    OpenAIRE

    CHAUDHARY, ANSHU; KANSAL, GARIMA; Singh, Neetu; Singh, Hridaya Shanker

    2015-01-01

    A phylogenetic study of nematode species belonging to Nematoda: Oxyurida from India has been conducted using molecular characters. Molecular marker 18S rRNA (18S) from the nuclear gene was tested and analyses were conducted using the minimum evolution, maximum parsimony, and maximum likelihood methods. Phylogenetic analysis revealed that both of the species Hammerschmidtiella indicus and Thelandros scleratus clustered as sister species with species of Thelastoma and Leidynema, and Parapharyng...

  6. A new species of Rhigonema Cobb, 1898 (Nematoda: Rhigonematidae) from a Cuban spirobolid millipede (Diplopoda: Spirobolida)

    OpenAIRE

    García,Nayla; Morffe,Jans

    2014-01-01

    Rhigonema nesoboli sp. nov. (Nematoda: Rhigonematidae) is described from the gut of Nesobolus piedra (Diplopoda: Rhinocricidae) from Eastern Cuba. The new species is characterized by: the body length of both sexes; the cephalic collar umbelliform; the microtricha large, fine, backwardly directed, extending until the first portion of the intestine; the tail comparatively long and subulate in the female and elbowed in the male; the genital tract of Type 4; a number of 19-21 copulatory papillae ...

  7. NEMATODA PADA KATAK DI DAERAH PERSAWAHAN DAN SEKITAR HUTAN DI JAWA BARAT

    Directory of Open Access Journals (Sweden)

    Endang Purwaningsih

    2016-09-01

    Full Text Available ABSTRACTResearch on the parasitic•nematodes on frogs was conducted in the area of West Java, i.e . Cibadak,Cugenang (rice fields, Mount Gede-Pangrango and Selabintana (the area around the forest. A total of 69frogs consisted of 11 Fejervaria limnocharis, 27 F. cancrivora, 14 Rana chalconota, 4 R. kuhli, 7 R. hosii,5 Huia mansoni and 1 Limnonectes microdiscus were observed for nematodes. The obtained nematodeswere Raillietnema rachophory, Seuratascaris numidica, Cocmocerca ornate, Meteterakis sp., Gendria spdan Rhabdias sp. Nematodes observed with a scanning electron microscope (JSM-531OLV were fixedwith glutaraldehyde buffer solution, kaksodilat, and tanat acid; dehydrated with gradual alcoholconcentrations; and then dried using Freezed Drier. Generally, 24 frogs (34.7% out of 69 frogs wereinfected by nematodes.Keywords: Nematode, frogs, West Java ABSTRAKPenelitian tentang.parasit nematoda pada katak telah dilakukan di daerah Jawa barat yaitu di desa cibadak,Cugenang (persawahan. Gunung Gede-Pangrango dan Salabintana (daerah hutan. Jumlah total katak yangdiperoleh sebanyak 69 ekor terdiri dari 11 Fejervaria limnocharis, 27 F. cancrivora, 14 Rana chalconota, 4R. kuhli, 7 R. hosii, 5 Huia mansoni and 1 Limnonectes microdiscus nematode yang diamati. Penelitiantentang nematode dari jenis Raillietnema rachophory, Seuratascaris numidica, Cocmocerca ornate,Meteterakis sp., Gendria sp dan Rhabdias sp. Nematoda yang diamati dengan mikroskop elektron (JSM-5310LV difiksasi dengan larutan penyangga glutaraldehyde, kaksodilat dan asam tanat, didehidrasi denganalkohol konsentrasi bertingkat, kemudian dikeringkan dengan menggunakan pengering beku (FreezedDrier. Secara umum dari 69 ekor katak yang diperiksa sebanyak 24 ekor (34,78% terinfeksi nematoda.Kata kunci: Nematoda, kodok, jawa barat

  8. Anesthetic Approach to a Patient with Epidermolysis Bullosa: A Case Report

    Directory of Open Access Journals (Sweden)

    Ersin KOKSAL

    2015-09-01

    Full Text Available Epidermolysis Bullosa (EB is characterized by fragility and formation of blisters in the skin and mucosal membranes. Due to blisters on the airway and occurring new blisters as a result of anesthetic or surgical procedures may complicate anesthesia management. In this case report, we present the anesthetic approach of a 6 years old case with EB who underwent reconstructive surgery. After premedication and optimal monitorization, intravenous (IV anesthesia and analgesia was administered. Associated with the oropharyngeal lesions and limitation to reach an adequate mouth opening, we preferred the facemask to maintain ventilation. Neither new lesions nor complications were detected during or after surgery. [J Contemp Med 2015; 5(3.000: 192-195

  9. Application of Allogeneic Fibroblast Cells in Cellular Therapy of Recessive Dystrophic Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Zare

    2015-09-01

    Full Text Available Context Connective tissue cells include fibroblasts, chondrocytes, adipocyte, and osteocytes. These cells are specialized for the secretion of collagenous extracellular matrix and are responsible for the architectural framework of the human body. Evidence Acquisition Connective tissue cells play a central role in supporting as well as repairing tissues and organs. Fibroblast cell therapy could be used for the treatment of burn wounds, scars, diabetic foot ulcers, acne scars and skin aging. This review focused on biology of fibroblasts and their role in cell therapy of recessive dystrophic epidermolysis bullosa (RDEB. Results Fibroblasts are known to play a pivotal role in skin structure and integrity, and dermal fibroblasts are believed to promote skin regeneration and rejuvenation via collagen production. Conclusions Fibroblasts can be used in transplantations to ameliorate an immune system response, in order to reduce antigen production. Human fibroblasts suppress ongoing mixed lymphocyte reactions (MLRs between lymphocyte cells from two individuals, and supernatant materials from fibroblast cultures suppress MLRs.

  10. Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review.

    Science.gov (United States)

    Yan, Tian-Meng; He, Chun-Xia; Hua, Bao-Lai; Li, Li; Jin, Hong-Zhong; Liu, Yue-Hua; Zuo, Ya-Gang

    2017-01-01

    Epidermolysis bullosa acquisita (EBA) is a rare chronic subepidermal bullous autoimmune disease. The occurrence of acquired hemophilia A (AHA) is low and so the coexistence of EBA and AHA is extremely rare. We herein described a case of EBA coexisting with AHA and a case of EBA coexisting with AHA and hepatitis B. These EBA may be related to the pathogenesis of AHA. In this study, we analyzed the clinical features in the two Chinese cases of EBA coexisting with AHA, and found esophageal hemorrhage and hematemesis were the main symptoms of both patients. Cyclosporin, prednisone and lamivudine effectively control EBA with AHA and hepatitis B. The dose of cyclosporin should be more than 4 mg/kg per day and the period of treatment should be longer than 5 months to reduce the risk of EBA co-occurring with AHA. © 2016 Japanese Dermatological Association.

  11. Cross-reactivity of autoantibodies from patients with epidermolysis bullosa acquisita with murine collagen VII.

    Science.gov (United States)

    Csorba, Kinga; Sesarman, Alina; Oswald, Eva; Feldrihan, Vasile; Fritsch, Anja; Hashimoto, Takashi; Sitaru, Cassian

    2010-04-01

    The pathomechanism of antibody-mediated tissue damage in autoimmune diseases can be best studied in experimental models by passively transferring specific autoantibodies into animals. The reproduction of the disease in animals depends on several factors, including the cross-reactivity of patient autoantibodies with the animal tissue. Here, we show that autoantibodies from patients with epidermolysis bullosa acquisita (EBA), a subepidermal autoimmune blistering disease, recognize multiple epitopes on murine collagen VII. Indirect immunofluorescence microscopy revealed that EBA patients' IgG cross-reacts with mouse skin. Overlapping, recombinant fragments of murine collagen VII were used to characterize the reactivity of EBA sera and to map the epitopes on the murine antigen by ELISA and immunoblotting. The patients' autoantibody binding to murine collagen VII triggered pathogenic events as demonstrated by a complement fixing and an ex vivo granulocyte-dependent dermal-epidermal separation assay. These findings should greatly facilitate the development of improved disease models and novel therapeutic strategies.

  12. [Epidermolysis bullosa acquisita complicated by esophageal stenosis. Endoscopic treatment with thermoplastic dilators and intralesional steroid injection].

    Science.gov (United States)

    Moura, E G; Couto-Júnior, D S; Alvarado-Escobar, H; da Costa-Martins, B; Sallum, R A; Artifon, E L; Sakai, P

    2011-01-01

    Epidermolysis bullosa acquisita (EBA) is a rare auto-immune dermatologic disease, produced by auto-antibodies against colagen VII. We report a 44 years old male patient with EBA diagnosed 15 years before, who presented with progressive disphagia, being diagnosed an esophageal involvement of EBA. The patient was submitted to endoscopic treatment with thermoplastic bougie dilation and intralesional corticosteroid injection. The patient improved clinically with recovery of nutritional status. Esophageal involvement in EBA is very rare and its reason is still unknown. Endoscopic approach must be cautiously performed with the use of small diameter endoscopes, small caliber dilators, intralesional injection of corticosteroid and enteral tube in order to minimize the risks of complications, as well as esophageal rest from food trauma and better reparatory molding of the epithelium.

  13. Molecular studies of an impetigo bullosa epidemic in full-term infants.

    Science.gov (United States)

    Jursa-Kulesza, Joanna; Kordek, Agnieszka; Kopron, Katarzyna; Wojciuk, Bartosz; Giedrys-Kalemba, Stefania

    2009-01-01

    Carriers of Staphylococcus aureus strains can be the source of epidemic infection for patients. A molecular epidemiological analysis of an impetigo bullosa outbreak in a neonatal ward was performed in order to determine a potential source of the infection and possible routes of subsequent spreading of the epidemic strain. The genetic relatedness of S. aureus strains isolated from 6 neonates with epidermal lesions and from 21 staff members was verified by the pulsed field gel electrophoresis (PFGE) method. Additionally, detection of eta and etb genes of S. aureus strains using PCR was performed. None of the infected newborns' mothers was a carrier. Seven strains, 6 isolated from the newborns and 1 taken from a midwife, showed the same restriction pattern, i.e. type A. In the other 20 health care workers colonized with S. aureus, 3 genetic types could be distinguished, i.e. B (2), C (7) and D (2), as well as 9 strains with unique PFGE patterns. The eta gene detected in 7 strains belonged to the genetic type A; there was no etb gene in any of the 27 S. aureus isolates. The presence of the same genetic type A of S. aureus in the infected newborns is a factor which indicates that the impetigo bullosa was a hospital infection. A probable source of the infection was a midwife who was colonized with the same S. aureus type. She was present at the birth of the first infected newborn. Today, molecular methods are essential for prompt recognition of an epidemic and implementation of appropriate infection control strategies. Copyright 2009 S. Karger AG, Basel.

  14. Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.

    Science.gov (United States)

    Tampoia, Marilina; Bonamonte, Domenico; Filoni, Angela; Garofalo, Lucrezia; Morgese, Maria Grazia; Brunetti, Luigia; Di Giorgio, Chiara; Annicchiarico, Giuseppina

    2013-09-04

    Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction.For the first time in literature, we have evaluated the presence of anti-skin autoantibodies in a wider cohort of patients suffering from inherited EB and ascertained whether they may be a marker of disease activity. Sera from patients with inherited EB, 17 with recessive dystrophic EB (RDEB), 10 with EB simplex (EBS) were analysed. As much as 20 patients with pemphigus vulgaris, 21 patients with bullous pemphigoid and 20 healthy subjects were used as controls.Anti-skin autoantibodies were tested in all samples with the Indirect Immunofluorescence (IIF) method and the currently available ELISA method in order to detect anti-type VII collagen, anti-BP180 and anti-BP230 autoantibodies. The mean concentrations of anti-type VII collagen autoantibodies titres, anti-BP180 and anti-BP230 autoantibodies were statistically higher in RDEB patients than in EBS patients.The sensitivity and specificity of the anti-type VII collagen ELISA test were 88.2% and 96.7%. The Birmingham Epidermolysis Bullosa Severity score, which is used to evaluate the severity of the disease, correlated with anti-skin autoantibodies titres. The precise pathogenic role of circulating anti-skin autoantibodies in RDEB is unclear. There is a higher prevalence of both anti-type VII collagen and other autoantibodies in patients with RDEB, but their presence can be interpreted as an epiphenomenon.

  15. A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Hohenvieh cattle.

    Directory of Open Access Journals (Sweden)

    Annie Menoud

    Full Text Available We identified a congenital mechanobullous skin disorder in six calves on a single farm of an endangered German cattle breed in 2010. The condition presented as a large loss of skin distal to the fetlocks and at the mucosa of the muzzle. All affected calves were euthanized on humane grounds due to the severity, extent and progression of the skin and oral lesions. Examination of skin samples under light microscopy revealed detachment of the epidermis from the dermis at the level of the dermo epidermal junction, leading to the diagnosis of a subepidermal bullous dermatosis such as epidermolysis bullosa. The pedigree was consistent with monogenic autosomal recessive inheritance. We localized the causative mutation to an 18 Mb interval on chromosome 22 by homozygosity mapping. The COL7A1 gene encoding collagen type VII alpha 1 is located within this interval and COL7A1 mutations have been shown to cause inherited dystrophic epidermolysis bullosa (DEB in humans. A SNP in the bovine COL7A1 exon 49 (c.4756C>T was perfectly associated with the observed disease. The homozygous mutant T/T genotype was exclusively present in affected calves and their parents were heterozygous C/T confirming the assumed recessive mode of inheritance. All known cases and genotyped carriers were related to a single cow, which is supposed to be the founder animal. The mutant T allele was absent in 63 animals from 24 cattle breeds. The identified mutation causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*. We thus have identified a candidate causative mutation for this genetic disease using only three cases to unravel its molecular basis. Selection against this mutation can now be used to eliminate the mutant allele from the Rotes Höhenvieh breed.

  16. Trypanoxyuris (Paraoxyuronema lagothricis (Nematoda: Oxyuridae in Lagothrix cana (Primates: Atelidae from Brazil Trypanoxyuris (Paraoxyuronema lagothricis (Nematoda: Oxyuridae em Lagothrix cana (Primates: Atelidae no Brasil

    Directory of Open Access Journals (Sweden)

    Hudson Alves Pinto

    Full Text Available During necropsy of a specimen of Lagothrix cana (É. Geoffroy, 1812 (Primates: Atelidae from the Brazilian Amazon, pinworms were found in the large intestine. The intensity of infection was 64 parasites (17 males and 47 females and there were no gross pathological changes related to parasitism. After morphological analysis the parasites were identified as Trypanoxyuris (Paraoxyuronema lagothricis (Buckley, 1931 (Nematoda: Oxyuridae. This is the first record of this oxyurid species in primates in Brazil.Durante a necropsia de Lagothrix cana (É. Geoffroy, 1812 (Primates: Atelidae oriundo da Amazônia brasileira, oxiurídeos foram encontrados no intestino grosso. A intensidade de infecção foi de 64 parasitos (17 machos e 47 fêmeas, não havendo alterações patológicas macroscópicas relacionadas ao parasitismo. Após análise morfológica os parasitos foram identificados como Trypanoxyuris (Paraoxyuronema lagothricis (Buckley, 1931 (Nematoda: Oxyuridae. Este é o primeiro relato desta espécie de oxiurídeo em primatas no Brasil.

  17. Epidermolysis bullosa

    Science.gov (United States)

    ... mouth or throat. Take good care of your oral health and get regular dental check-ups. It is best to see a dentist who has experience treating people with EB. Eat a healthy diet. When you have a lot of skin injury, ...

  18. Anguillicola crassus (Nematoda, Dracunculoidea) infections of European eel (Anguila anguilla) in the Netherlands : epidemiology, pathogenensis and pathobiology

    NARCIS (Netherlands)

    Haenen, O.L.M.

    1995-01-01


    In the 1980s an eel parasitic nematode, Anguillicola crassus (Nematoda, Dracunculoidea), which infects the swimbladder of European eels ( Anguilla anguilla ) and other freshwater fish species, was introduced into The Netherlands. This thesis

  19. A homozygous mutation in keratin 5 is a fully dominant allele responsible for epidermolysis bullosa simplex

    Energy Technology Data Exchange (ETDEWEB)

    Stephens, K.; Smith, L.; Ehrlich, P. [Univ. of Washington, Seattle, WI (United States)] [and others

    1994-09-01

    Molecular, ultrastructural, and clinical analysis of a large family with epidermolysis bullosa simplex (EBS) and multiple consanguineous marriages has identified one affected individual who inherited defective keratin 5 genes from both of her affected parents. EBS are skin blistering disorders caused by abnormal keratin filament assembly or function due to a mutation in either of the two structural proteins keratin 5 or keratin 14. Linkage analysis with DNA markers near each keratin gene demonstrated that the defect in this family mapped near keratin 5 (K5) with a LOD score of 7.60, {theta}=0.0 for the proximal marker D12S14. Sequencing of the K5 gene identified an Asn substitution of a highly conserved Lys at codon 173 in the 5{prime} end of the central rod domain. The mutation was found in 33 affected family members but not in 5 unaffected members or 25 unrelated, unaffected individuals. Both linkage and sequence analysis verified that one affected individual was homozygous for the K5 mutation. In this family, clinical examination and analysis of epidermal ultrastructure by electron microscopy were consistent with the Koebner subtype of EBS. Despite the absence of any normal K5 protein in the skin, the clinical and ultrastructural phenotypes of the homozygous individual did not differ significantly from those of affected heteozygous relatives. This K5 mutation is a fully dominant allele.

  20. Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.

    Science.gov (United States)

    Homberg, Melanie; Ramms, Lena; Schwarz, Nicole; Dreissen, Georg; Leube, Rudolf E; Merkel, Rudolf; Hoffmann, Bernd; Magin, Thomas M

    2015-10-01

    Keratin filaments constitute the major component of the epidermal cytoskeleton from heterodimers of type I and type II keratin subunits. Missense mutations in keratin 5 or keratin 14, highly expressed in the basal epidermis, cause the severe skin blistering disease epidermolysis bullosa simplex (EBS) in humans by rendering the keratin cytoskeleton sensitive to mechanical stress; yet, the mechanisms by which individual mutations cause cell fragility are incompletely understood. Here, we compared the K14p.Arg125Pro with the K5p.Glu477Asp mutation, both giving rise to severe generalized EBS, by stable expression in keratin-free keratinocytes. This revealed distinctly different effects on keratin cytoskeletal organization, in agreement with in vivo observations, thus validating the cell system. Although the K14p.Arg125Pro mutation led to impaired desmosomes, downregulation of desmosomal proteins, and weakened epithelial sheet integrity upon shear stress, the K5p.Glu477Asp mutation did not impair these functions, although causing EBS with squamous cell carcinoma in vivo. Atomic force microscopy demonstrated that K14 mutant cells were even less resistant against deformation compared with keratin-free keratinocytes. Thus, a keratin mutation causing EBS compromises cell stiffness to a greater extent than the lack of keratins. Finally, re-expression of K14 in K14 mutant cells did not rescue the above defects. Collectively, our findings have implications for EBS therapy approaches.

  1. Cognitive function in patients with epidermolysis bullosa: social adjustment and emotional problems.

    Science.gov (United States)

    Feldmann, R; Weglage, J; Frosch, M

    2012-01-01

    Children with Epidermolysis bullosa (EB) suffer from an intractable, burdensome skin disease that may result in cognitive as well as social and emotional problems. To assess cognitive problems in patients with EB, we investigated 20 affected children and adolescents, 6-17 years of age (mean: 10.8 years; SD: 3.4 years), and 24 healthy controls (6-15 years, mean: 10.9 years; SD: 3.0 years) for cognitive abilities. Additionally, parents were asked to assess social and emotional problems of their children. Patients and controls were assessed using the Wechsler Intelligence Scales. Parents completed Achenbach's Child Behaviour Checklist (CBCL), a parent-report measure on emotional and behavioural symptoms in children. The mean scores of the young patients tested with WISC-R and WAIS-R showed no significant left shift if compared to healthy controls. Analyzing the subtypes of EB, however, considerable cognitive deficits were associated with recessive dystrophic EB (RDEB), severe generalized. Less social competence and more social and emotional problems were reported for the entire patient group. Functional rehabilitation is required to increase not only the physical but the cognitive development of the severely affected children with RDEB. Children and adolescents with all subtypes of EB require therapeutic support regarding their social and emotional life. © Georg Thieme Verlag KG Stuttgart · New York.

  2. Acellular dermal matrix allograft used to gain attached gingiva in a case of epidermolysis bullosa.

    Science.gov (United States)

    Buduneli, Eralp; Ilgenli, Tunç; Buduneli, Nurcan; Ozdemir, Fezal

    2003-11-01

    Epidermolysis bullosa (EB) is an acquired disease or inherited as either autosomal dominant or recessive with an incidence of 1/50,000. The prominent clinical characteristic of the disease is the development of bullae or vesicles in mucosa or skin in response to minor trauma. A female patient with a dystrophic type of EB had been put in a maintenance regimen after completion of the initial phase of periodontal therapy and followed for 7 years. The purpose of this report is to document acellular dermal matrix allograft application to increase the width of the attached gingiva in this patient experiencing difficulty in chewing and performing plaque control due to the dramatic loss of attached gingiva after 7 years of supportive periodontal therapy. Under local anaesthesia and antibiotic coverage, the acellular dermal matrix allograft was applied in the anterior region of the upper jaw in order to increase the width of attached gingiva, thereby improving patient comfort. The healing was uneventful and a significant gain in attached gingiva dimensions was observed 9 months after the periodontal surgery. The procedure avoided a second surgical site, provided satisfactory results from an aesthetic point of view, and improved patient comfort. Acellular dermal matrix allograft may be regarded as an alternative in the treatment of EB cases to increase the width of attached gingiva and facilitate maintenance of the dentition.

  3. Epidermolysis Bullosa Nevi: Report of a Case and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Laura Abdo Nalon de Queiroz Fuscaldi

    2011-11-01

    Full Text Available A 10-year-old female patient, being treated for dystrophic bullous epidermolysis in a Pediatric Hospital, was referred to our Dermoscopy Ambulatory because of a newly observed mole in the submandibular area. Clinically, the lesion presented as an irregular double-colored macule of about 2 cm in diameter, with irregular borders, suspicious of malignancy. Dermoscopy showed a multicomponent pattern, with multiple colors, ill-defined network, black blotches, streaks, multiple dots, a blue-whitish veil and granularity at the periphery. Although it had a clinical appearance of malignancy, dermoscopy every semester was proposed due to the revision of a recently described entity, named bullous epidermolysis nevi, that we made in these children. The fragile skin of this particular patient was also taken into account, and overtreatment was avoided. Bullous epidermolysis nevi is the term given to large, asymmetrical and often irregularly pigmented melanocytic nevi that occur in former areas of blistering in patients with the dystrophic forms of the disease. Despite its atypical clinical appearance, and sometimes also atypical dermoscopy, malignant transformation has not been reported yet. Similarly to recurrent nevi, where melanocytes proliferate in a previous area of trauma, clinical aspect, dermoscopy, and histopathology may tempt clinicians to diagnose benign moles as melanoma. Here we report one case of this entity, scarcely reported on in literature, and review clinical and dermatoscopical features of epidermolysis bullosa nevi confronting it with recurrent nevi. The usefulness of dermoscopy as a treatment strategy is stressed.

  4. Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

    Directory of Open Access Journals (Sweden)

    Ольга Евгеньевна Агранович

    2015-12-01

    Full Text Available Epidermolysis bullosa (EB is a rare hereditary disease. Its main feature is vesication and weeping sores (erosions of the skin and mucous membranes, resulting from a minor injury. Clinical manifestations of the disease may vary from localized vesicles on the hands and feet to a generalized rash of the skin as well as lesions of the mucosa of the inner organs. At present, there are four main groups of EB: simple, intermediate, dystrophic, and Kindler syndrome. Mutations cause changes in the structure of the proteins responsible for the adhesion between layers of the dermis, leading to vesication. Treatment of EB is a challenge because of the lack of opportunities for the direct influence on the disease process, and its main purpose is to correct the existing cutaneous manifestations and prevent the occurrence of new elements. This article describes the main types of EB, methods of current diagnosis, and treatment of the disease as well as a clinical case of a rare combination of two severe disorders: 1 dystrophic EB and 2 arthrogryposis with upper and lower limb involvement.

  5. Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand

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    Minhee Kim

    2017-09-01

    Full Text Available We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC in recessive dystrophic epidermolysis bullosa (RDEB from the Australasian EB registry cohort. Seventeen out of 49 (34.6% RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with a mean of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs. The majority of the tumours were well and moderately differentiated. The cumulative risk of SCC development by age 35 was 76.1% for RDEB-Generalized Severe (RDEB-GS and 10% for RDEB-Generalized Intermediate (RDEB-GI. Amongst those who developed SCCs, their median time to death after first SCC was 5 years for RDEB-GI and 4 years for RDEB-GS. This is the first retrospective study of RDEB-SCC in Australasia.

  6. Gastrostomy tube feeding in children with epidermolysis bullosa: consideration of key issues.

    Science.gov (United States)

    Haynes, Lesley; Mellerio, Jemima E; Martinez, Anna E

    2012-01-01

    Complications of severe forms of epidermolysis bullosa (EB) almost invariably lead to chronic malnutrition, jeopardizing immune status, growth, iron status, bone health, wound healing, and quality of life. Although gastrostomy tube (G-tube) feeding has successfully addressed the difficulties of providing nutrition and medications in some children attending our center, others have developed problems such as abdominal distension, poor feed tolerance, and leakage of gastric contents with persistent localized skin ulceration, posing enormous challenges to skin management and nutritional maintenance. Suspicions that G-tube placement and feeding cause or exacerbate these problems has led to a decline in placements at our center over the last 10 years. We therefore recognized that it should not be rejected without due consideration of why some patients seem more prone to complications than others. Thus, information on selected issues and outcomes of G-tube placement was obtained from records of 66 patients undergoing surgery between 1989 and 2008. The complex interrelationships of the sequelae of severe EB, changes in practice over 20 years and lack of data for patients treated early in the series make it impossible to draw firm conclusions at this stage, however, our scrutiny provides valuable information on which to base debate and future studies. It also offers well as useful insights for fellow professionals involved in nutrition support in children with severe EB. © 2012 Wiley Periodicals, Inc.

  7. Manifestaciones oftalmológicas de la epidermólisis bullosa

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    Magela E Díaz Rodríguez

    Full Text Available La epidermólisis bullosa es una genodermatosis, que comprende un grupo heterogéneo de enfermedades ampollares de la piel y las mucosas, localizadas en la membrana basal epidérmica y la capa basal del epitelio estratificado queratinizado o mucoso, con la consiguiente fragilidad de la piel y severidad variable en su presentación clínica. Con el objetivo de describir y mostrar los hallazgos oftalmológicos más comunes de esta afección, presentamos un caso cuyos síntomas iniciaron a los dos meses de edad con presencia de vesículas y ampollas localizadas en la región frontal, nasal, mejillas y caras laterales del cuello de la frente y las extremidades superiores e inferiores. Las manifestaciones oftalmológicas comenzaron a los seis meses de edad en ambos ojos con leucoma corneal cicatrizal total, simblefaron en 360º, que alcanzó región perilímbica. Todo lo anterior afectó su desarrollo visual y por consiguiente su desarrollo psicomotor. Esta afección requiere tratamiento multidisciplinario con especial atención a la superficie ocular externa para prevenir alteraciones que afecten la visión.

  8. The distribution of epidermolysis bullosa in Australia with a focus on rural and remote areas.

    Science.gov (United States)

    Harris, Adam G; Todes-Taylor, Nancy R; Petrović, Nenad; Murrell, Dedee F

    2017-05-01

    Patients with epidermolysis bullosa (EB) require specialised medical care. In Australia this expertise is located in the major cities, with patients living in rural and remote areas having reduced access to these services. We aim to analyse the geographical distribution of patients with EB in Australia to determine the relevance of this potential geographical disadvantage for this population. Using postal codes obtained from the Australian National Diagnostic Laboratory Database for EB and the Australasian EB Registry, living patients with EB in Australia were categorised using the Australian standard geographical classification, remoteness areas. An analysis of EB subtype, including severity was also performed. A total of 318 patients were categorised, of whom 221 lived in major cities, 65 in inner regional areas, 26 in outer regional areas, four in remote and two in very remote areas. Half the patients living in remote and very remote areas had severe forms of EB. A significant proportion of patients with EB live outside the major cities in Australia. Half of the patients living in remote and very remote areas had severe forms of EB. Targeted strategies to improve access to EB-specific medical care may be needed for patients living in rural and remote areas. © 2016 The Australasian College of Dermatologists.

  9. Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant.

    Science.gov (United States)

    Melo, Sandra P; Lisowski, Leszek; Bashkirova, Elizaveta; Zhen, Hanson H; Chu, Kirk; Keene, Douglas R; Marinkovich, M Peter; Kay, Mark A; Oro, Anthony E

    2014-04-01

    Definitive correction of disease causing mutations in somatic cells by homologous recombination (HR) is an attractive therapeutic approach for the treatment of genetic diseases. However, HR-based somatic gene therapy is limited by the low efficiency of gene targeting in mammalian cells and replicative senescence of primary cells ex vivo, forcing investigators to explore alternative strategies such as retro- and lentiviral gene transfer, or genome editing in induced pluripotent stem cells. Here, we report correction of mutations at the LAMA3 locus in primary keratinocytes derived from a patient affected by recessive inherited Herlitz junctional epidermolysis bullosa (H-JEB) disorder using recombinant adenoassociated virus (rAAV)-mediated HR. We identified a highly recombinogenic AAV serotype, AAV-DJ, that mediates efficient gene targeting in keratinocytes at clinically relevant frequencies with a low rate of random integration. Targeted H-JEB patient cells were selected based on restoration of adhesion phenotype, which eliminated the need for foreign sequences in repaired cells, enhancing the clinical use and safety profile of our approach. Corrected pools of primary cells assembled functional laminin-332 heterotrimer and fully reversed the blistering phenotype both in vitro and in skin grafts. The efficient targeting of the LAMA3 locus by AAV-DJ using phenotypic selection, together with the observed low frequency of off-target events, makes AAV-DJ based somatic cell targeting a promising strategy for ex vivo therapy for this severe and often lethal epithelial disorder.

  10. Er:YAG Laser Dental Treatment of Patients Affected by Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Angela Galeotti

    2014-01-01

    Full Text Available Aim. The purpose of this study was to evaluate the efficacy of Er:YAG laser used for treating hard dental tissue in patients with epidermolysis bullosa (EB. Methods. We report two cases of EB in which an Er:YAG laser was used for conservative treatments. In the first case, the Er:YAG laser (2,940 μm, 265 mJ, 25 Hz was used to treat caries on a deciduous maxillary canine in an 8-year-old male patient affected by dystrophic EB. In the second case, we treated a 26-year-old female patient, affected by junctional EB, with generalized enamel hypoplasia, and an Er:YAG laser (2,940 μm, 265 mJ, 25 Hz was used to remove the damaged enamel on maxillary incisors. Results. The use of the Er:YAG laser, with the appropriate energy, was effective in the selective removal of carious tissue and enamel hypoplasia. During dental treatment with the Er:YAG laser, patients required only a few interruptions due to the absence of pain, vibration, and noise. Conclusions. Laser treatment of hard dental tissues is a valuable choice for patients affected by EB since it is less invasive compared to conventional treatment, resulting in improved patient compliance.

  11. Clinical application of amniotic membranes on a patient with epidermolysis bullosa.

    Science.gov (United States)

    Martínez Pardo, M E; Reyes Frías, M L; Ramos Durón, L E; Gutiérrez Salgado, E; Gómez, J C; Marín, M A; Luna Zaragoza, D

    1999-01-01

    The case of a patient with dystrophic epidermolysis bullosa treated with radiosterilised amniotic membranes is presented. The disorder is a congenital disease characterised by a poor desmosomal junction in the keratinocyte membrane. After proper donor screening, amnios were collected at Hospital Central Sur de Alta Especialidad (HCSAE), PEMEX and microbiological analysis was performed at Universidad Nacional Autónoma de México, FQUNAM, (Biology Dept. of the Chemistry Faculty, National Autonomous University of Mexico), before and after radiation sterilisation. Processing, packaging and sterilisation were performed at Instituto Nacional de Investigaciones Nucleares, ININ, (National Nuclear Research Institute). The patient, a ten-year-old boy with severe malnutrition, extensive loss of skin and pseudomonad infection in the whole body, was treated with gentle debridement in a Hubbard bath. Later amnion application was performed with sterilised amnios by using two different processes, in one of which the amnion was sterilised with paracetic acid, preserved in glycerol, kindly donated by the German Institute for Tissue and Cell Replacement and applied by Dr. Johannes C. Bruck, IAEA visiting expert, and the other amnion was processed at ININ: air dried and sterilised by gamma radiation at dose of 30 kGy. After spontaneous epithelisation was successfully promoted for seven days, the pain was alleviated and mobility was improved in a few hours and the patient's general condition was so improved that in a month he was discharged. Unfortunately, because this disease is revertive and has malignant degeneration, the prognosis is not good.

  12. Restrictions in oral functions caused by oral manifestations of epidermolysis bullosa.

    Science.gov (United States)

    Stellingsma, Cornelis; Dijkstra, Pieter U; Dijkstra, Janke; Duipmans, José C; Jonkman, Marcel F; Dekker, Rienk

    2011-01-01

    Several forms of epidermolysis bullosa (EB) present oral manifestations. Blistering of the (peri)oral mucosa affects the opening of the mouth, the mobility of the tongue and lips, thereby restricting oral functions. We describe the prevalence and characteristics of oral manifestations of EB in relation to loss of oral functions in a cross-sectional study of different types of EB patients using standardized measurement techniques. Twenty-two patients were included. The mobility of the mandible, lips and tongue was measured, the mandibular function impairment questionnaire (MFIQ) was filled out and additional questions regarding hindrance of EB during oral hygiene and intelligibility of speech (being understood) were asked in structured interviews. The median age was 11.8 yrs. Mobility of the mandible, tongue and lip was restricted, oral hygiene procedures were hindered in most patients. A data comparison was made between the recessive dystrophic EB (RDEB) and junctional EB (JEB) groups. Mandibular function was impaired in both groups but more severely in the RDEB-population. Intelligibility in both groups was almost unaffected. Restrictions in mobility of the mouth, tongue and lips are frequently present in EB patients. These are most severe in the RDEB group and support the clinical relevance of optimizing symptomatic treatment.

  13. Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients

    Directory of Open Access Journals (Sweden)

    Magomet Aushev

    2017-09-01

    Full Text Available Epidermolysis bullosa simplex (EBS is a blistering skin disease caused by dominant-negative mutations in either KRT5 or KRT14, resulting in impairment of keratin filament structure and epidermal fragility. Currently, nearly 200 mutations distributed across the entire length of these genes are known to cause EBS. Genome editing using programmable nucleases enables the development of ex vivo gene therapies for dominant-negative genetic diseases. A clinically feasible strategy involves the disruption of the mutant allele while leaving the wild-type allele unaffected. Our aim was to develop a traceless approach to efficiently disrupt KRT5 alleles using TALENs displaying unbiased monoallelic disruption events and devise a strategy that allows for subsequent screening and isolation of correctly modified keratinocyte clones without the need for selection markers. Here we report on TALENs that efficiently disrupt the KRT5 locus in immortalized patient-derived EBS keratinocytes. Inactivation of the mutant allele using a TALEN working at sub-optimal levels resulted in restoration of intermediate filament architecture. This approach can be used for the functional inactivation of any mutant keratin allele regardless of the position of the mutation within the gene and is furthermore applicable to the treatment of other inherited skin disorders.

  14. [Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica].

    Science.gov (United States)

    Blázquez Gómez, E; Garcés Aletá, A; Monclus Diaz, E; Manen Berga, F; García-Aparicio, L; Ontanilla López, A

    2015-05-01

    Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by blistering after minimal trauma. These blisters tend to form dystrophic scars, leading to limiting and life-threatening sequelae. The anaesthetic management of patients with DEB is a challenge, even for the most experienced anaesthesiologists, but basic principles can help us prepare the plan of care. The main goals are to prevent trauma/infection of skin/mucous, and to establish a secure airway without causing bullae. Patient positioning and the instruments used to monitor vital signs and administering anaesthetic agents can cause new lesions. It is advisable to lubricate the instruments and to avoid adhesive material and shearing forces on the skin. Besides the implications of the comorbidities, there is a potential difficult intubation and difficult vascular access. Acute airway obstruction can occur due to airway instrumentation. We report the case of a patient diagnosed with EBD difficult airway and undergoing correction of syndactylyl and dental extractions. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.

    Science.gov (United States)

    Mauldin, Elizabeth A; Wang, Ping; Olivry, Thierry; Henthorn, Paula S; Casal, Margret L

    2017-02-01

    Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (EBS). To describe a novel blistering disease that arose spontaneously in a litter of puppies. Two female and one male 20-day-old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis. The puppies had ulcers on the lips, tongue, nasal planum, paw pads and abdomen. Immunolabelling on frozen skin for basement membrane proteins revealed patchy and weak to absent staining for plectin as compared with strong linear staining in normal dogs. Ultrastructurally, hemidesmosomes were irregularly shaped and had loss of distinction between inner and outer plaques. Pedigree analysis supported an autosomal recessive mode of inheritance. A premature stop codon was discovered in exon 27 of PLEC that resulted in the production of a severely truncated protein. The study describes the first documented spontaneous EBS associated with a PLEC variant in domestic animals. © 2016 ESVD and ACVD.

  16. A ski and adventure camp for young patients with severe forms of epidermolysis bullosa.

    Science.gov (United States)

    Nading, Mary Alice; Lahmar, Julien J; Frew, John W; Ghionis, Nicholas; Hanley, Martin; Welch, Anna Kemble; Murrell, Dedee F

    2009-09-01

    The Dystrophic Epidermolysis Bullosa (EB) Research Association (DebRA) of New Zealand has run 3 adventure camps specifically geared to the unique and specific needs of teenagers and young adults with EB. We sought to describe how the 2007 winter camp was organized, funded, and run for teenagers and young adults with a range of EB severities. Planning and fundraising by DebRA of New Zealand began 1 year before the camp. Nurses and international medical personnel volunteered as camp staff. Instructors qualified to assist persons with disabilities were hired to provide camp activities. The 5-day adventure camp was held at a national park on the North Island of New Zealand. The 2007 camp included 5 campers (aged 21-35 years) with recessive dystrophic EB, 3 of whom used wheelchairs, and two teenagers with EB simplex. All campers were male. Twelve international volunteers assisted with daily dressing changes and camp activities, which included skiing, whitewater rafting, and fly-fishing. Challenges included difficulty in recruiting new campers each year, particularly female campers. The camp allowed campers to challenge themselves both physically and mentally, while developing lifelong friendships. It was immensely rewarding for all the volunteers. This camp demonstrated that it is possible to provide such activities safely to severely affected patients.

  17. A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

    Directory of Open Access Journals (Sweden)

    Escámez María-José

    2010-09-01

    Full Text Available Abstract Background Recessive Dystrophic Epidermolysis Bullosa (RDEB is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma. The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation. Methods Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs throughout the COL7A1 gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin. Results Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation. Conclusion Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (CCGCTCAAA_6527insC, thus suggesting the presence of a common ancestor.

  18. Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

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    Jeroen Bremer

    2016-01-01

    Full Text Available The “generalized severe” form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most patients carry exonic point mutations or small insertions/deletions, most exons of COL7A1 are in-frame, and low levels of type VII collagen already drastically improve the disease phenotype, this gene seems a perfect candidate for antisense oligonucleotide (AON-mediated exon skipping. In this study, we examined the feasibility of AON-mediated exon skipping in vitro in primary cultured keratinocytes and fibroblasts, and systemically in vivo using a human skin-graft mouse model. We show that treatment with AONs designed against exon 105 leads to in-frame exon 105 skipping at the RNA level and restores type VII collagen protein production in vitro. Moreover, we demonstrate that systemic delivery in vivo induces de novo expression of type VII collagen in skin grafts generated from patient cells. Our data demonstrate strong proof-of-concept for AON-mediated exon skipping as a systemic therapeutic strategy for RDEB.

  19. Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Minhee Kim, MBBS

    2016-06-01

    Full Text Available Epidermolysis bullosa (EB is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Her skin wounds and granulation tissue gradually exacerbated under silicone dressings such that she became profoundly anemic. Subsequently, she was commenced on colchicine 500 μg daily on the basis that it may inhibit cell proliferation and be anti-inflammatory. After a 6-month trial of colchicine, she had an objective and subjective improvement in her validated EB Disease Activity and Scarring Index activity and damage scores and Quality Of Life in EB score with less skin erosions, granulation tissue, and erythema. In addition, her anemia resolved. She denied any gastrointestinal side effects. The exact mechanism of colchicine in assisting reduction of the blistering, erosions, and granulation in JEB is unclear, but the anti-inflammatory and antimitotic properties of colchicine may be partially responsible for this process.

  20. Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.

    Science.gov (United States)

    Breitenbach, Jenny S; Rinnerthaler, Mark; Trost, Andrea; Weber, Manuela; Klausegger, Alfred; Gruber, Christina; Bruckner, Daniela; Reitsamer, Herbert A; Bauer, Johann W; Breitenbach, Michael

    2015-06-01

    The aging process of skin has been investigated recently with respect to mitochondrial function and oxidative stress. We have here observed striking phenotypic and clinical similarity between skin aging and recessive dystrophic Epidermolysis bullosa (RDEB), which is caused by recessive mutations in the gene coding for collagen VII,COL7A1. Ultrastructural changes, defects in wound healing, and inflammation markers are in part shared with aged skin. We have here compared the skin transcriptomes of young adults suffering from RDEB with that of sex- and age-matched healthy probands. In parallel we have compared the skin transcriptome of healthy young adults with that of elderly healthy donors. Quite surprisingly, there was a large overlap of the two gene lists that concerned a limited number of functional protein families. Most prominent among the proteins found are a number of proteins of the cornified envelope or proteins mechanistically involved in cornification and other skin proteins. Further, the overlap list contains a large number of genes with a known role in inflammation. We are documenting some of the most prominent ultrastructural and protein changes by immunofluorescence analysis of skin sections from patients, old individuals, and healthy controls.

  1. Clinical, dermoscopic and histopathological features of melanocytic nevi in dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Fernandes, Juliana Dumêt; Rivitti-Machado, Maria Cecilia; Nakano, Juliana; de Oliveira Rocha, Bruno; Oliveira, Zilda Najjar P

    2014-03-01

    Epidermolysis bullosa (EB) nevi are acquired pigmented melanocytic lesions which may have clinical and dermoscopic features quite similar to those found in melanoma. More detailed information on this phenomenon is still lacking. To evaluate clinical, dermoscopic, and histopathological features of melanocytic lesions in 13 patients with dystrophic EB (DEB). Patients underwent clinical and dermoscopic evaluation. Suspicious lesions were excised and examined microscopically. There were 12 cases of recessive DEB and one of dominant DEB. Five patients were men; 8 were women; the ages ranged from 2 to 27 years old. All patients had at least 2 atypical melanocytic lesions. Two of the 5 biopsied patients showed an atypical nevus or lentigo on histopathological examination. We observed a high incidence of large and atypical melanocytic lesions in DEB patients. Although the exact explanation for this is still unclear, it seems that re-epithelization and the chronic inflammatory process may stimulate the proliferation of melanocytes, as well as the emergence of lesions with atypical clinical and dermoscopic features. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow-up and histopathological evaluation of suspicious lesions in EB patients are mandatory. © 2014 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  2. New species of Parapharyngodon (Nematoda: Pharyngodonidae) in Rhinella marina (Anura: Bufonidae) from Grenada, West Indies.

    Science.gov (United States)

    Bursey, Charles; Drake, Michael; Cole, Rebecca; Sterner Iii, Mauritz; Pinckney, Rhonda; Zieger, Ulrike

    2013-06-01

    Parapharyngodon grenadaensis n. sp. (Nematoda: Pharyngodonidae) from the large intestine of the cane toad, Rhinella marina, is described and illustrated. Parapharyngodon grenadaensis n. sp. is the 48th species assigned to the genus and the 16th species from the Neotropical region. It differs from other species in the genus by possessing 4 pairs of caudal papillae, an echinate anterior cloacal lip, and a blunt spicule of 67-104 μm. This is only the second report of R. marina harboring a species of Parapharyngodon.

  3. A new species of Thelastomathidae (Nematoda a parasite of Neocurtilla claraziana Saussure (Orthoptera, Gryllotalpidae in Argentina

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    Camino Nora B

    2002-01-01

    Full Text Available Gryllophila cephalobulata n. sp. (Nematoda, Thelastomatidae a parasite of the mole cricket Neocurtilla claraziana (Orthoptera, Gryllotalpidae isolated in Buenos Aires Province, is described and illustrated. It is characterized by cuticle annulated all along the length of the body; the first ring has 4 lobules, the second one has 14 lobules, the others rings are simple, the stoma is short and has 4 small teeth, the genital papillae are arranged in 5 pairs, of which 3 pairs are preanal and 2 pairs are postanal. The tail appendage of the male is long and filiform.

  4. First report of parasitism by Ophidascaris robertsi (Nematoda) in a sugar glider (Petaurus breviceps, Marsupialia).

    Science.gov (United States)

    Gallego Agúndez, Miguel; Villaluenga Rodríguez, Jose Enrique; Juan-Sallés, Carles; Spratt, David M

    2014-12-01

    Third-stage larvae of Ophidascarsis robertsi (Nematoda: Ascaridoidea) were found on necropsy in a female sugar glider, Petaurus breviceps (Marsupialia: Petauridae), two in heart chambers and one free in the peritoneal cavity. The animal was bred in captivity and had previous contact with Australian pythons captured in nature, which could be the source of the infection. The histopathologic diagnosis was intraluminal and perivascular pulmonary hemorrhage possibly due to the parasitosis. It is the first report of parasitism by O. robertsi in a sugar glider.

  5. Identifikasi Fusarium dan Nematoda Parasitik yang Berasosiasi dengan Penyakit Kuning Lada di Kalimantan Barat

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    Suryanti Suryanti

    2015-07-01

    Full Text Available Pepper (Piper nigrum, known as the “King of Spices” is one of the most important spices. In the international market, Indonesian pepper has high selling value, due to its flavor characteristics. Pepper yellowing disease is one of the most important disease that caused the decrease of pepper production and become the main problem in the cultivation of pepper in West Kalimantan. This research was conducted to determine the major causal agent of leaf yellowing disease of pepper. The Fusarium associated with diseased plant were isolated from the symptomatic plant and nematodes were isolated from the root with leaf yellowing symptom. The Fusarium isolates were cultured on agar medium, and the nematode was cultured on tomato plant. From diseased pepper in West Kalimantan, it was isolated 4 Fusarium isolates and plant parasitic nematode Meloidogyne. The result showed that H isolate of Fusarium was the most virulent isolate and identified asFusarium solani. The Meloidogyne was identified by the female perenial patern.The nematode was identified as Meloidogyne incognita. INTISARI Lada (Piper nigrum L. merupakan salah satu jenis rempah penting yang telah dikenal sebagai “King of Spices”. Di pasar internasional, lada Indonesia mempunyai daya jual tinggi karena cita rasanya yang khas. Salah satu kendala dalam budidaya lada adalah adanya penyakit kuning lada dan sampai saat ini menjadi masalah utama pada pertanaman lada di Kalimantan Barat. Informasi tentang patogen utama yang berinteraksi dengan penyakit kuning lada masih sangat terbatas, sehingga penelitian ini bertujuan untuk mengidentifikasi patogen utama yang berasosiasi dengan penyakit kuning lada. Isolasi Fusarium dilakukan dari batang lada dan isolasi nematoda dilakukan dari akar lada yang bergejala penyakit kuning di Kalimantan Barat. Fusarium hasil isolasi dikulturkan dalam medium agar, sedangkan nematoda hasil isolasi dikulturkan dalam akar tomat. Dari hasil isolasi berhasil didapatkan

  6. Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.

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    Aroa Suárez-Vega

    Full Text Available In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease. Junctional epidermolysis bullosa is a recessive genodermatosis that manifests with neonatal mechanical fragility of the skin, blistering confined to the lamina lucida of the basement membrane and severe alteration of the hemidesmosomal junctions. In Spanish Churra sheep, junctional epidermolysis bullosa (JEB has been detected in two commercial flocks. The JEB locus was mapped to Ovis aries chromosome 11 by GWAS and subsequently fine-mapped to an 868-kb homozygous segment using the identical-by-descent method. The ITGB4, which is located within this region, was identified as the best positional and functional candidate gene. The RNA-seq variant analysis enabled us to discover a 4-bp deletion within exon 33 of the ITGB4 gene (c.4412_4415del. The c.4412_4415del mutation causes a frameshift resulting in a premature stop codon at position 1472 of the integrin β4 protein. A functional analysis of this deletion revealed decreased levels of mRNA in JEB skin samples and the absence of integrin β4 labeling in immunohistochemical assays. Genotyping of c.4412_4415del showed perfect concordance with the recessive mode of the disease phenotype. Selection against this causal mutation will now be used to solve the problem of JEB in flocks of Churra sheep. Furthermore, the identification of the ITGB4 mutation means that affected sheep can be used as a large mammal animal model for the human form of epidermolysis bullosa with aplasia cutis. Our approach evidences that RNA-seq offers cost-effective alternative to identify variants in the species in which high resolution exome-sequencing is not straightforward.

  7. Cutaneous Squamous Cell Carcinoma Developing from Recessive Dystrophic Epidermolysis Bullosa: A Case Report and an Immunohistochemical Study

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    Akira Tsukada

    2012-09-01

    Full Text Available We describe a 49-year-old Japanese woman with cutaneous squamous cell carcinoma (SCC developing from recessive dystrophic epidermolysis bullosa (RDEB. Interestingly, immunohistochemical staining revealed dense infiltration of CD163+ M2 macrophages and numerous Foxp3+ regulatory T cells (Tregs around the tumor. Since the contribution of immunosuppressive factors (e.g. TGFβ to the carcinogenesis of SCC from RDEB was recently reported, our present findings suggest one of the possible contributions of immunosuppressive cells, such as CD163+ M2 macrophages and Tregs, to the carcinogenesis of SCC from RDEB.

  8. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

    NARCIS (Netherlands)

    Gostynska, Katarzyna B.; Nijenhuis, Miranda; Lemmink, Henny; Pas, Hendrikus; Pasmooij, Anna M. G.; Lang, Kristin Kernland; Castanon, Maria J.; Wiche, Gerhard; Jonkman, Marcel F.

    2015-01-01

    PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common to all isoforms. Due to the ubiquitous presence

  9. A very mild form of non-Herlitz junctional epidermolysis bullosa : BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain

    NARCIS (Netherlands)

    Pasmooij, AMG; van Zalen, S; Nijenhuis, AM; Kloosterhuis, AJ; Zuiderveen, J; Jonkman, MF; Pas, HH

    Mutations in the gene COL17A1 cause non-Herlitz junctional epidermolysis bullosa. Here, we describe a patient who, despite two heterozygous mutations in COL17A1, has an extremely mild form of the disease missing most of the characteristic clinical features. DNA analysis revealed a frame-shift

  10. Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita : serration pattern analysis on skin biopsy is required for diagnosis

    NARCIS (Netherlands)

    Terra, J. B.; Jonkman, M. F.; Diercks, G. F. H.; Pas, H. H.

    BackgroundThe type VII collagen (coll VII) enzyme-linked immunosorbent assay (ELISA) has been reported to have high sensitivity (>93%) and specificity (>96%) for diagnosing epidermolysis bullosa acquisita (EBA) in patients who are seropositive on indirect immunofluorescence on salt-split skin (SSS).

  11. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

    NARCIS (Netherlands)

    Akker, P.C. van den; Essen, A.J. van; Kraak, M.M.; Meijer, R.; Nijenhuis, M.; Meijer, G.; Hofstra, R.M.; Pas, H.H.; Scheffer, H.; Jonkman, M.F.

    2009-01-01

    BACKGROUND: The current classification of recessive dystrophic epidermolysis bullosa (RDEB) comprises two major subtypes: 'severe generalized RDEB' (RDEB-sev gen) with early-onset, extensive, generalized blistering and scarring, complete absence of type VII collagen, and bi-allelic COL7A1 null

  12. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : Implications for genetic counseling

    NARCIS (Netherlands)

    Rouan, F; Pulkkinen, L; Jonkman, MF; Cserhalmi-Friedman, PB; Christiano, AM; Uitto, J

    1998-01-01

    The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1). In dominant DEB, a characteristic genetic lesion is a glycine substitution mutation within the collagenous domain of the protein. In this study, we have examined the molecular basis of

  13. Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis Bullosa

    NARCIS (Netherlands)

    Pasmooij, Anna M. G.; Garcia, Marta; Escamez, Maria J.; Nijenhuis, A. Miranda; Azon, Antoni; Cuadrado-Corrales, Natividad; Jonkman, Marcel F.; Del Rio, Marcela

    2010-01-01

    Despite the high incidence of revertant mosaicism (35%) in patients with the genetic skin disease epidermolysis bullosa (EB) due to correcting mutations in the genes COL17A1 and LAMB3, revertant mosaicism has not been described for COL7A1 until recently. Mutations in COL7A1 are responsible for the

  14. Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

    NARCIS (Netherlands)

    Jonkman, MF; Moreno, G; Rouan, F; Oranje, AP; Pulkkinen, L; Uitto, J

    A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystrophic epidermolysis bullosa is studied. The albopapuloid lesions developed within the first year of life, contained milia and were associated with pruritus. Mutation detection of the COL7A1 gene revealed a G-->A transition at

  15. Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa : Exon Skipping as Systemic Therapy for RDEB

    NARCIS (Netherlands)

    Bremer, Jeroen; Bornert, Olivier; Nyström, Alexander; Gostynski, Antoni; Jonkman, Marcel F; Aartsma-Rus, Annemieke; van den Akker, Peter C; Pasmooij, Anna MG

    2016-01-01

    The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most

  16. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    van den Akker, P. C.; Pasmooij, A. M. G.; Meijer, R.; Scheffer, H.; Jonkman, M. F.

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  17. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    Akker, P.C. van den; Pasmooij, A.M.; Meijer, R.; Scheffer, H.; Jonkman, M.F.

    2015-01-01

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  18. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands : Expansion of the mutation database and unusual phenotype-genotype correlations

    NARCIS (Netherlands)

    van den Akker, Peter C.; van Essen, Anthonie J.; Kraak, Marian M. J.; Meijer, Rowdy; Nijenhuis, Albertine; Hofstra, Robert M. W.; Pas, Hendri H.; Scheffer, Hans; Jonkman, Marcel F.; Meijer, G.

    2009-01-01

    Background: The current classification of recessive dystrophic epidermolysis bullosa (RDEB) comprises two major subtypes: 'severe generalized RDEB'(RDEB-sev gen) with early-onset, extensive, generalized blistering and scarring, complete absence of type VII Collagen, and bi-allelic COL7A1 null

  19. Operon conservation and the evolution of trans-splicing in the phylum Nematoda.

    Science.gov (United States)

    Guiliano, David B; Blaxter, Mark L

    2006-11-24

    The nematode Caenorhabditis elegans is unique among model animals in that many of its genes are cotranscribed as polycistronic pre-mRNAs from operons. The mechanism by which these operonic transcripts are resolved into mature mRNAs includes trans-splicing to a family of SL2-like spliced leader exons. SL2-like spliced leaders are distinct from SL1, the major spliced leader in C. elegans and other nematode species. We surveyed five additional nematode species, representing three of the five major clades of the phylum Nematoda, for the presence of operons and the use of trans-spliced leaders in resolution of polycistronic pre-mRNAs. Conserved operons were found in Pristionchus pacificus, Nippostrongylus brasiliensis, Strongyloides ratti, Brugia malayi, and Ascaris suum. In nematodes closely related to the rhabditine C. elegans, a related family of SL2-like spliced leaders is used for operonic transcript resolution. However, in the tylenchine S. ratti operonic transcripts are resolved using a family of spliced leaders related to SL1. Non-operonic genes in S. ratti may also receive these SL1 variants. In the spirurine nematodes B. malayi and A. suum operonic transcripts are resolved using SL1. Mapping these phenotypes onto the robust molecular phylogeny for the Nematoda suggests that operons evolved before SL2-like spliced leaders, which are an evolutionary invention of the rhabditine lineage.

  20. Operon conservation and the evolution of trans-splicing in the phylum Nematoda.

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    David B Guiliano

    2006-11-01

    Full Text Available The nematode Caenorhabditis elegans is unique among model animals in that many of its genes are cotranscribed as polycistronic pre-mRNAs from operons. The mechanism by which these operonic transcripts are resolved into mature mRNAs includes trans-splicing to a family of SL2-like spliced leader exons. SL2-like spliced leaders are distinct from SL1, the major spliced leader in C. elegans and other nematode species. We surveyed five additional nematode species, representing three of the five major clades of the phylum Nematoda, for the presence of operons and the use of trans-spliced leaders in resolution of polycistronic pre-mRNAs. Conserved operons were found in Pristionchus pacificus, Nippostrongylus brasiliensis, Strongyloides ratti, Brugia malayi, and Ascaris suum. In nematodes closely related to the rhabditine C. elegans, a related family of SL2-like spliced leaders is used for operonic transcript resolution. However, in the tylenchine S. ratti operonic transcripts are resolved using a family of spliced leaders related to SL1. Non-operonic genes in S. ratti may also receive these SL1 variants. In the spirurine nematodes B. malayi and A. suum operonic transcripts are resolved using SL1. Mapping these phenotypes onto the robust molecular phylogeny for the Nematoda suggests that operons evolved before SL2-like spliced leaders, which are an evolutionary invention of the rhabditine lineage.

  1. Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

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    Cristina Chamorro

    2016-01-01

    Full Text Available Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa in a high percentage of Spanish patients. After transduction with these viral vectors, high frequencies of homology-directed repair were found in clones of keratinocytes derived from a recessive dystrophic epidermolysis bullosa (RDEB patient homozygous for the c.6527insC mutation. Gene-edited clones recovered the expression of the COL7A1 transcript and collagen VII protein at physiological levels. In addition, treatment of patient keratinocytes with TALE nucleases in the absence of a donor template DNA resulted in nonhomologous end joining (NHEJ-mediated indel generation in the vicinity of the c.6527insC mutation site in a large proportion of keratinocyte clones. A subset of these indels restored the reading frame of COL7A1 and resulted in abundant, supraphysiological expression levels of mutant or truncated collagen VII protein. Keratinocyte clones corrected both by homology-directed repair (HDR or NHEJ were used to regenerate skin displaying collagen VII in the dermo-epidermal junction.

  2. Epidermolysis bullosa acquisita with moderately severe dysphagia due to esophageal strictures

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    Jenny Tu

    2011-01-01

    Full Text Available Epidermolysis bullosa acquisita (EBA is a chronic, autoimmune condition involving the skin and mucous membranes. Symptomatic mucosal involvement is rare, but can impact on quality of life, due to esophageal strictures and dysphagia. We report a case involving a 60-year-old male presenting with bullous skin lesions on areas of friction on his hands, feet and mouth. Milia were visible on some healed areas. Biopsy showed a subepidermal vesicle. Direct immunofluorescence showed intense linear junctional IgG and C3 at the dermo-epidermal junction. Serological tests also supported the diagnosis of EBA. Screening tests for underlying malignancies were negative. Despite treatment with systemic steroids, the patient developed increasing dysphagia, requiring further investigation with esophagoscopy and a barium swallow. Confirmation of extensive esophageal stricturing prompted adjustment of medications including an increase in systemic steroids and addition of azathioprine. Currently, the patient′s disease remains under control, with improvement in all his symptoms and return of anti-basement membrane antibody levels to normal, whilst he remains on azathioprine 150 mg daily and prednisolone 5 mg daily. This case highlights the fact that the treatment of a given patient with EBA depends on severity of disease and co-morbid symptoms. Newer immunoglobulin and biological therapies have shown promise in treatment resistant disease. Considering that long-term immunosuppressants or biologicals will be required, potential side effects of the drugs should be considered. If further deterioration occurs in this patient, cyclosporin A or intravenous immunoglobulin (IV Ig will be considered. Vigilance for associated co-morbidities, especially malignancies, should always be maintained.

  3. Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa.

    Science.gov (United States)

    Jeon, In Kyung; On, Hye Rang; Kim, Soo-Chan

    2016-02-01

    Patients with recessive dystrophic epidermolysis bullosa (RDEB) exhibit blisters and erosions since birth, causing pain, pruritus and various complications. RDEB affects quality of life (QoL) in physical, emotional and social aspects. Furthermore, interminable dressing changes and supportive therapies impose a significant economic burden on the patient's family. We assessed the QoL and economic burden in patients with RDEB. Sixteen patients with RDEB were surveyed to assess the QoL and economic burden. Patients answered questionnaires consisting of a visual analogue scale (VAS) on pain and pruritus, Skindex-29, Quality of Life in EB questionnaire (QOLEB), and the economic burden due to EB. Thirteen patients with RDEB completed the questionnaire. Female patients presented higher VAS, QOLEB and total Skindex-29 scores than male patients. Patients with RDEB showed severe levels of pruritus, which was more intolerable than pain. Mean VAS score on pain in RDEB was higher than in oral lichen planus and post-herpetic neuralgia. VAS score on pruritus was similar to those in chronic urticaria, atopic dermatitis, and prurigo nodularis. Compared with other dermatologic conditions, patients with RDEB were profoundly affected in all three scales of skindex-29. Mean "medical cost" in a month was $257.54 (USD) (±169.39) and mean "dressing cost" was $358.41 (USD) (±312.55), which was negatively related to patient age. RDEB had a profound impact on QoL and economic burden. Compared with other dermatologic diseases, RDEB showed severe symptoms and QoL was seriously impaired. Most patients sustained economic burdens, especially on preparing dressing materials. Younger patients experienced more economic burdens.

  4. CRISPR/Cas9-based genetic correction for recessive dystrophic epidermolysis bullosa

    Science.gov (United States)

    McElroy, Amber N; Twaroski, Kirk; Lonetree, Cara-lin; DeFeo, Anthony P; Xia, Lily; Eide, Cindy; Lees, Christopher J; McElmurry, Ron T; Riddle, Megan J; Kim, Chong Jai; Patel, Dharmeshkumar D; Blazar, Bruce R; Tolar, Jakub

    2017-01-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe disorder caused by mutations to the COL7A1 gene that deactivate production of a structural protein essential for skin integrity. Haematopoietic cell transplantation can ameliorate some of the symptoms; however, significant side effects from the allogeneic transplant procedure can occur and unresponsive areas of blistering persist. Therefore, we employed genome editing in patient-derived cells to create an autologous platform for multilineage engineering of therapeutic cell types. The clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 system facilitated correction of an RDEB-causing COL7A1 mutation in primary fibroblasts that were then used to derive induced pluripotent stem cells (iPSCs). The resulting iPSCs were subsequently re-differentiated into keratinocytes, mesenchymal stem cells (MSCs) and haematopoietic progenitor cells using defined differentiation strategies. Gene-corrected keratinocytes exhibited characteristic epithelial morphology and expressed keratinocyte-specific genes and transcription factors. iPSC-derived MSCs exhibited a spindle morphology and expression of CD73, CD90 and CD105 with the ability to undergo adipogenic, chondrogenic and osteogenic differentiation in vitro in a manner indistinguishable from bone marrow-derived MSCs. Finally, we used a vascular induction strategy to generate potent definitive haematopoietic progenitors capable of multilineage differentiation in methylcellulose-based assays. In totality, we have shown that CRISPR/Cas9 is an adaptable gene-editing strategy that can be coupled with iPSC technology to produce multiple gene-corrected autologous cell types with therapeutic potential for RDEB. PMID:28250968

  5. Sensitive and specific assays for routine serological diagnosis of epidermolysis bullosa acquisita.

    Science.gov (United States)

    Komorowski, Lars; Müller, Ralf; Vorobyev, Artem; Probst, Christian; Recke, Andreas; Jonkman, Marcel F; Hashimoto, Takashi; Kim, Soo-Chan; Groves, Richard; Ludwig, Ralf J; Zillikens, Detlef; Stöcker, Winfried; Schmidt, Enno

    2013-03-01

    Epidermolysis bullosa acquisita (EBA) is a severe autoimmune subepidermal blistering disease characterized by autoantibodies against the N-terminal collagenous domain (NC1) of type VII collagen (Col VII). Development of reliable assays for the detection of anti-Col VII-NC1 antibodies. NC1 was expressed in human HEK293 cells and used as target antigen in an enzyme-linked immunosorbent assay (ELISA) and in an immunofluorescence assay (IFA). These two assays were probed in a large cohort of patients with EBA (n = 73), bullous pemphigoid (BP, n = 72), anti-p200 pemphigoid (n = 24), anti-laminin 332 mucous membrane pemphigoid (MMP, n = 15), pemphigus vulgaris (PV, n = 24), and healthy control subjects (n = 254). The cut-off for the ELISA was optimized for accuracy by receiver-operating characteristics (area under the curve [AUC] = 0.9952). IgG reactivity against NC1 was detected in 69 of 73 EBA (94.5%) and 5 control sera (2 healthy controls and 3 BP patients), resulting in a specificity of 98.7%. The IFA showed a sensitivity of 91.8% and specificity of 99.8%. Reproducibility of the ELISA was demonstrated by an intra-class correlation coefficient of 0.97. IgG subclass analyses by ELISA revealed IgG1, IgG2, IgG3, and IgG4 anti-NC1 reactivity in 83.6%, 85.3%, 37.7%, and 83.6% of EBA sera, respectively. The novel assays were not evaluated prospectively and their use in monitoring serum levels during the disease course was not tested. The two assays are highly specific and sensitive to diagnose EBA. Their diagnostic competence was demonstrated in a large cohort of well-characterized EBA sera. Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  6. The subclass distribution of IgG autoantibodies in cicatricial pemphigoid and epidermolysis bullosa acquisita.

    Science.gov (United States)

    Bernard, P; Prost, C; Aucouturier, P; Durepaire, N; Denis, F; Bonnetblanc, J M

    1991-08-01

    To study the subclass distribution of autoantibodies and their complement-fixing capacity in cicatricial pemphigoid (CP) and epidermolysis bullosa acquisita (EBA) we studied the sera from 23 patients by both indirect immunofluorescence (IIF) on 4-microns cryostat sections of normal human skin and immunoblotting of epidermal or dermal extracts. Monoclonal antibodies of strict specificity for human IgG subclasses were used. Sera from 20 patients with BP served as controls. In addition, total IgG subclass levels were determined by indirect competitive ELISA in all sera. Complement binding capacity was studied by IIF using antibodies to C3 after incubation of skin section with autoantibodies and source of fresh complement. CP autoantibodies reacting with the 230-240 kD and/or the 180-kD epidermal bands showed an IgG4/IgG1 subclass restriction, with a predominance of IgG4 in 10 cases, of IgG1 in four. In BP sera, IgG4 and IgG1 autoantibodies were detected with a similar frequency (100% and 83%, respectively). In EBA sera, autoantibodies reacting with the 290 kD and 145 kD dermal bands also showed an IgG1/IgG4 restriction. Concordant results were obtained by IIF. However, the IIF method had a lower sensitivity for the detection of IgG4 CP antibodies and IgG1 EBA antibodies than immunoblotting. Finally, when CP antibodies were analyzed for their complement-binding activity, it was found that sera containing IgG4 autoantibodies alone never fixed complement whereas all complement-fixing CP sera had IgG1 autoantibodies, suggesting that only this subclass of antibodies is capable of fixing complement.

  7. Wound culture isolated antibiograms and caregiver-reported skin care practices in children with epidermolysis bullosa.

    Science.gov (United States)

    Singer, Hannah M; Levin, Laura E; Garzon, Maria C; Lauren, Christine T; Planet, Paul J; Kittler, Nicole W; Whittier, Susan; Morel, Kimberly D

    2017-11-06

    Many patients with epidermolysis bullosa (EB) require intensive daily wound care and individualized treatment plans. Understanding patient's home skin care routines and emerging antibiotic resistance patterns in EB wounds is necessary to optimize treatment recommendations. The objective was to identify patterns of antimicrobial resistance in EB wounds and characterize patient's home practices of skin care and bathing. This was an observational study of 23 children with EB at an outpatient pediatric dermatology practice in New York City from 2012 to 2014. Information on individual bathing and skin care practices and wound cultures was collected as part of routine examinations and an institutional review board-approved antibiogram protocol. Sixty wound cultures were collected from 23 patients. Eleven organisms were isolated, most commonly methicillin-susceptible Staphylococcus aureus, methicillin-resistant S. aureus, Streptococcus species, and Pseudomonas aeruginosa. Six patients (26%) were colonized with methicillin-resistant S. aureus. Over the course of the study, 13 patients (56%) were found to have mupirocin-resistant S. aureus. More than half of participants reported mupirocin or bacitracin use. Fewer than half indicated that they regularly used dilute bleach or dilute vinegar as part of their bathing routine. Numerous organisms, including resistant bacteria, are known to colonize the wounds of individuals with EB. Mupirocin resistance was prevalent and more than half of the participants reported its use. Testing for mupirocin resistance may be considered for certain patients. These observations may help guide questions for future longitudinal multicenter studies with the goal of optimizing EB wound care recommendations. © 2017 Wiley Periodicals, Inc.

  8. TGFβ-signaling in Squamous Cell Carcinoma Occurring in Recessive Dystrophic Epidermolysis Bullosa

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    Julia Knaup

    2011-01-01

    Full Text Available Background: Recessive dystrophic epidermolysis bullosa (RDEB is a hereditary skin disorder characterized by mechanical fragility of the skin, resulting in blistering and chronic wounds. The causative mutations lie in the COL7A1 gene. Patients suffering from RDEB have a high risk to develop aggressive, rapidly metastasizing squamous cell carcinomas (SCCs. Cutaneous RDEB SCCs develop preferentially in long-term skin wounds or cutaneous scars. Albeit being well differentiated, they show a more aggressive behavior than UV-induced SCCs. These findings suggest other contributing factors in SCC tumorigenesis in RDEB. Objective: To analyze factors contributing to RDEB tumorigenesis, we conducted a comprehensive gene expression study comparing a non-malignant RDEB (RDEB-CL to a RDEB SCC cell line (SCCRDEB4 to achieve an overview on the changes of the gene expression levels in RDEB related skin cancer. Methods: We applied cDNA arrays comprising 9738 human expressed sequence tags (EST with various functions. Selected results were verified by Real-time RT PCR. Results: Large-scale gene expression analysis revealed changes in the expression level of transforming growth factor β1 (TGFβ1 and several genes under the control of TGFβ for RDEB and SCCRDEB4 cell lines. Even untransformed RDEB keratinocytes show elevated levels of TGFβ1. Conclusion: Our findings demonstrate a prominent role of TGFβ-signaling in RDEB-related skin cancer. Once activated, TGFβ signaling either in response to wounding or in order to influence type VII collagen expression levels could facilitate cancer development and progression. Moreover, TGFβ signaling might also represent a potentially useful therapeutic target in this disease.

  9. Implant-supported fixed dental prostheses in an edentulous patient with dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Muller, Frauke; Bergendal, Birgitta; Wahlmann, Ulrich; Wagner, Wilfried

    2010-01-01

    This clinical report describes the use of implant-supported fixed dental prostheses (ISFDPs) in a severe case of dystrophic epidermolysis bullosa. The patient's appearance was characterized by reduced corporal growth and severe mutilation of the hands and feet. He was first examined at age 20. The severely decayed residual dentition had already been extracted by the time of examination. Conventional dentures were not possible due to severe microstomia and the fragility of the denture-bearing tissues. Even a modest manual touch was very painful and detached the epithelium of the oral mucosa. The first treatment was only possible under general anesthesia. To allow some prospect for oral rehabilitation, four implants were inserted in the maxilla and three in the mandible. Several years of steroid treatment had weakened the bony structures. Therefore, the diameter of the last drill used to prepare the bone for implant insertion was smaller than the diameter of the implants to improve primary stability. Complete FDPs with a shortened dental arch design served as superstructures. Several fractures in the screw-designed titanium abutments in the mandible necessitated insertion of three additional implants and an ISFDP with two occlusal units, which was screwed horizontally to a milled bar mesostructure. Despite multiple fractures of the acrylic resin veneers caused by severe bruxism and the small occlusal surface, this rehabilitation proved successful until the patient died at age 25, as a consequence of his hereditary disease. This treatment greatly improved the patient's oral function, nutrition, and psychosocial well-being. Int J Prosthodont 2010;23:42-48.

  10. Kemampuan Isolataktinomisetes Menghasilkan Enzim yang Dapatmerusak Kulit Telur Nematoda Puru-Akar Meloidogyne spp.

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    Bambang Rahayu TP

    2009-07-01

    Full Text Available Soil microbes including actinomycetes are known to produce various hydrolytic enzymes and antibiotics that can be used as biological controlling agents nematode. Therefore, surveys conducted in several areas in Yogyakarta, Central Java and East Java, to search for actinomycetes with chitinolytic, proteolytic, and chitino-proteolytic activity. Isolation of Actinomycetes produced 84 isolates, and most was obtained from shrimp head waste (26 isolates. After the selection based on their ability to hydrolyze chitines and protein in the medium, those whith the highest chitin and protein hydrolysis activity, are consecutive PSJ 27, TL 8, and TL 10 isolates. Test results of crude enzyme produced by selected isolates against root-knot nematode eggshell, showed that the isolates that have chitino-proteolytic activity (TL 10, is a highly effective isolate in damage eggshell. There are three types of damage to the nematode eggs. In the young eggs, crude enzyme preparation causing damage on vitelline and chitin layers. In the older eggs, preparation of crude enzyme cause premature hatching.   Sebagian mikrobia tanah, termasuk aktinomisetes, diketahui mampu menghasilkan berbagai enzim hidrolitik dan antibiotik yang dapat dimanfaatkan sebagai agens pengendalian hayati nematoda. Oleh karena itu,survei dilakukan di beberapa daerah di Yogyakarta, Jawa Tengah, dan Jawa Timur untuk mencari aktinomisetes yang mempunyai aktivitas kitinolitik, proteolitik dan kitino-proteolitik. Isolasi aktinomisetes menghasilkan 84 isolat, dan yang terbanyak diperoleh dari limbah kepala udang (26 isolat. Setelah dilakukan seleksi berdasarkan kemampuannya menghidrolisis kitin dan protein dalam medium, yang mempunyai aktivitas hidrolisis protein, kitin, protein dan kitin tertinggi berturut-turut adalah isolat PSJ 27, TL 8, dan TL 10. Hasil uji enzim kasar yang dihasilkan isolat terpilih terhadap perusakan kulit telur nematoda puru-akar menunjukkan bahwa isolat yang memiliki

  11. Acanthocephala, Annelida, Arthropoda, Myxozoa, Nematoda and Platyhelminthes parasites of fishes from the Guandu river, Rio de Janeiro, Brazil.

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    Azevedo, R. K.

    2010-01-01

    Full Text Available Using information from all published reports and data collected during several parasitological surveys betweenApril 2003 and September 2009, a checklist of the parasites of fishes from Guandu River, southeastern of Brazil wasgenerated. A total of 85 parasite species, 54 named species (1 Acanthocephala, 1 Cestoda, 2 Crustacea, 13 Digenea, 11Nematoda, 23 Monogenea and 3 Myxozoa and 31 undetermined species (3 Acanthocephala, 2 Cestoda, 1 Crustacea, 8Digenea, 8 Nematoda, 4 Hirudinea, 3 Monogenea and 2 Myxozoa in 21 fish host species from Guandu River, were listed inthe current study, including 36 new locality records and 36 new host records. Also, a host-parasite list is included herein.

  12. Studies on Phyllobothrium lactuca (Cestoda: Phyllobothriidae) and Philometra salgadoi (Nematoda: Philometridae) parasitizing Boops boops from the Mediterranean Sea, Egypt.

    Science.gov (United States)

    Al-Bassel, Dayhoum Abdel-Hamid

    2005-12-01

    A total of 30 specimens of Boops boops marine fishes were collected from Alexandria fish market. The fishes were dissected out for parasites. Phyllobothrium lactuca (Cestoda: Phyllobothriidae) was isolated from the intestine and Philometra salgadoi (Nematoda: Philimetridae) was isolated from the ovary. Both were identified using standard keys, and examined by Scan Electron Microscopy (SEM). Some morphological features reported were unique. The two parasites represent new hosts record of B. boops.

  13. A new genus and two new species of Xustrostomatidae Hunt, 2002 (Nematoda: Rhigonematomorpha) from the West Indies

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    García, Nayla; Morffe, Jans

    2015-01-01

    A new genus and two new species of xustrostomatids (Nematoda: Xustrostomatidae) are described parasitizing diplopods from the West Indies. Trachyglossoides jimenoi gen. nov. sp. nov. from Cuba, is similar to Trachyglossus Hunt, 2002. It differs by having the female genital tract monodelphic, feature unique in the family. This constitutes the second record of the family from the country. Zalophora dominicana sp. nov. from the Dominican Republic resembles Z. repentina García & Morffe, 2010. It ...

  14. Translation, cross-cultural adaptation and validation of the Quality of Life Evaluation in Epidermolysis Bullosa instrument in Brazilian Portuguese.

    Science.gov (United States)

    Cestari, Tania; Prati, Clarissa; Menegon, Doris B; Prado Oliveira, Zilda N; Machado, Maria Cecília R; Dumet, Juliana; Nakano, Juliana; Murrell, Dédée F

    2016-02-01

    The Quality of Life Evaluation in Epidermolysis Bullosa (QoLEB) questionnaire was developed for use in English-speaking individuals. The aims of this study were to translate the QoLEB into Brazilian Portuguese, to culturally adapt it, and to verify its reliability and validity. The study followed the steps proposed by the World Health Organization, which include: translation; evaluation by a panel of experts and patients; back translation; and linguistic and cultural adaptation. All subjects were examined and assessed using the QoLEB and the Dermatology Life Quality Index (DLQI) or the Children's Dermatology Life Quality Index (CDLQI). Translation and cultural and linguistic adaptation were conducted by 10 patients, three translators, and the bilingual authors. The population was composed of 40 children (mean age: 8,15 years) and 17 adults (mean age: 33 years). Among the children, eight had epidermolysis bullosa (EB) simplex (EBS), one had junctional EB (JEB), and 31 had dystrophic EB (DEB). In the adult group, four of the subjects had EBS, one had JEB, and 12 had DEB. Mean ± standard deviation (SD) scores on the QoLEB in children were 10.60 ± 7.13 in EBS subjects, 9.71 ± 7.87 in children with dominant DEB (DDEB), and 14.25 ± 9.67 in children with recessive DEB (RDEB). Mean ± SD scores in adults were 12.50 ± 9.95 in EBS subjects, 12.00 ± 5.83 in DDEB subjects, and 20.20 ± 9.21 in RDEB subjects. The QoLEB-BP (Brazilian Portuguese) showed high internal consistency (Cronbach's α = 0.88) and high test-retest reliability (intraclass correlation coefficient: 0.70), confirming the internal consistency and reproducibility of this Portuguese version. There were significant correlations between QoLEB scores and both CDLQI (Pearson's r = 0.688, P < 0.002) and DLQI (Pearson's r = 0.807, P < 0.001) scores. Epidermolysis bullosa has marked impacts on the lives of EB patients and their families, which are strongly correlated with disease severity. The Brazilian

  15. Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size.

    Science.gov (United States)

    Fine, J-D; Johnson, L B; Weiner, M; Suchindran, C

    2005-05-01

    The presence in a family of a child or children with epidermolysis bullosa (EB) may have profound psychological implications for other family members. To assess the impact of the presence of EB in one or more children on the personal relationships between their parents. Standardized questionnaires were used. In general, the presence of a child severely affected with EB had profound effects on many aspects of marriage. This included a lack of interest in participating in activities as couples [junctional EB (JEB), 45%; recessive dystrophic EB (RDEB), 25%], a lack of energy to invest in such pursuits (JEB, 82%; RDEB, 50%), limitations in opportunities for sharing nonintimate physical activities (reported by most parents having children with some type of generalized EB), and negatively altered parental sex life (JEB, 55%; RDEB, 39%). This is consistent with the fact that 10%, 64%, 25% and 36% of parents of an affected child with EB simplex (EBS), JEB, dominant dystrophic EB (DDEB) and RDEB, respectively, characterized their relationships as couples as revolving almost exclusively around the day-to-day care of their affected children. The severity of disease in an affected child clearly influenced parental decisions about having more children: 24% and 64% of parents of children with JEB and RDEB, respectively, chose not to have additional children, compared with 26% and 54% of parents with children having EBS or DDEB. This choice was most often pursued via tubal ligation; less often, alternative means of surgical sterilization were chosen. Divorce was common among parents of children with EB (range: 17% in EBS to 31% in JEB) and, with the exception of parents of children with EBS, was usually directly attributed by one or both parents to the profound impact that this disease had exerted on their marriage. Physicians caring for children with EB need to give more consideration to the many psychological factors that may contribute to their patients' well being. They may

  16. First record of Mastophorus muris (Gmelin, 1790 (Nematoda: Spiruroidea from a wild host in South America

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    Rojas M. Del C.

    2003-12-01

    Full Text Available Mastophorus muris (Gmelin, 1790 (Nematoda: Spiruroidea is reported parasitizing the grey leaf-eared mouse Graomys griseoflavus (Waterhouse, 1837 (Rodentia: Sigmodontinae from the province of La Pampa, Argentina. The distinct position of Mastophorus (Spirocercidae: Mastophorinae and Protospirura (Spiruridae, sometimes still confused, is again confirmed. The pattern of pseudolabial teeth (a large central tooth with smaller teeth on each side, which seems to be rather stable in all known descriptions, is here confirmed with the aid of scanning electron microscopy. The finding represents the first record of the species in Argentina, but also from a wild host in South America. This indicates an expansion of the distribution range of the species, which, in the subcontinent, was hitherto restricted to domestic rodents.

  17. Hydromermis osami n. sp. (Nematoda: Mermithidae) from chironomids eclosing from northern Minnesota waterways.

    Science.gov (United States)

    Johnson, Arthur A; Kleve, Maurice G

    2007-10-01

    Hydromermis osami n. sp. (Nematoda: Mermithidae) is described from the hemocoel of 2 species of Rheotanytarsus chironomid imagos eclosing from Lake Ozawindib and Gulsvig Landing in northern Minnesota during August 2002 and June and July 2006. The species is distinguished from the other 26 described members of the genus by the terminal mouth; oval, opaque, thick walled amphids, wider than long; acute posterior end; single spicule not bifurcated proximally; well-developed uterine and vulval limbs of the S-shaped vagina; absence of bursal sleeve; absence of nutrient vesicles in the trophosome; and an esophagus length over 40% of body length. Members of the new species emerge from the hosts as adults. The other described Hydromermis species, number of specimens, location, and known hosts are tabulated.

  18. Two new species of Trichuris (Nematoda: Trichuridae) collected from endemic murines of Indonesia.

    Science.gov (United States)

    Hasegawa, Hideo; Dewi, Kartika

    2017-04-12

    Two new species of the genus Trichuris (Nematoda: Trichuridae) parasitic in the old endemic murids of Indonesia are described: T. musseri sp. nov. from Echiothrix centrosa (Murinae: Rattini) in Sulawesi and T. mallomyos sp. nov. from Mallomys rothschildi (Murinae: Hydromyini) in Papua Indonesia. Both species are characterized by having a gradually tapered and sharply pointed distal end of the spicule, being readily distinguished from most of the congeners known from murid rodents. Trichuris musseri is readily distinguished from T. mallomyos by having a much smaller body and large number of nuclei per subdivision of stichosome. The resemblance in spicule morphology between the two new species is of special interest because both hosts belong to different tribes and have different habitats and habits. It remains to be elucidated whether the resemblance is merely homoplasy or actually reflects close phylogenetic relationship of the parasites.

  19. Guppies (Poecilia reticulata) introducing an alien parasite, Camallanus cotti (Nematoda: Camallanidae) to Africa, the first report.

    Science.gov (United States)

    Tavakol, Sareh; Halajian, Ali; Smit, Willem J; Hoffman, Andre; Luus-Powell, Wilmien J

    2017-12-01

    Introduced alien fish species and their associated parasites may result in a serious threat to indigenous biodiversity. Furthermore, this may have negative impacts on cultured fish as well as on native parasitic fauna. In the present study, the invasive Asian nematode, Camallanus cotti Fujita, 1927 (Nematoda: Camallanidae), is reported from the guppy (Poecilia reticulata) for the first time in Africa. This parasite is assumed to be introduced into Africa along with the introduction of exotic poeciliid fishes, which are known to be the most common hosts of C. cotti in ornamental fish industry worldwide.The presence of this parasite in both aquarium-cultured fish as well as fish from natural waterbodies is evidence of the introduction of the alien organisms due to insufficient prophylactic veterinary control during transfer of non-native hosts between countries and the spread of them by the anthropogenic introduction to natural systems.

  20. Gastromermis cordobensis n. sp. (Nematoda: Mermithidae parasitizing Simulium lahillei Patterson & Shannon (Diptera: Simuliidae in Argentina

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    Nora B. Camino

    1991-06-01

    Full Text Available Gastromermis cordobensis n. sp (Nematoda: Mermithidae a parasite of larvae of the blackfly Simulium lahillei Paterson & Shannon (Diptera: Simuliidae in Argentina, is described. Diagnostic characters of this species include a mouth ventrlly shifted; six cephalic papillae; eigh hypodermal chords; small and pear shaped amphids; a long and S-shaped vagina; a singl spicule, which is long, has non-uniform walls, and a tip with sculpture; three rows of genital papillae, the middle one with 18 pre-anal and 10 post-anal papillae, the lateral rows have 36 papillae each; oval eggs; and post-parasitic juveniles with long thin tails. Pre-parasitic and parasitic juveniles are included in the description.

  1. On the extent and origins of genic novelty in the phylum Nematoda.

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    James Wasmuth

    2008-07-01

    Full Text Available The phylum Nematoda is biologically diverse, including parasites of plants and animals as well as free-living taxa. Underpinning this diversity will be commensurate diversity in expressed genes, including gene sets associated specifically with evolution of parasitism.Here we have analyzed the extensive expressed sequence tag data (available for 37 nematode species, most of which are parasites and define over 120,000 distinct putative genes from which we have derived robust protein translations. Combined with the complete proteomes of Caenorhabditis elegans and Caenorhabditis briggsae, these proteins have been grouped into 65,000 protein families that in turn contain 40,000 distinct protein domains. We have mapped the occurrence of domains and families across the Nematoda and compared the nematode data to that available for other phyla. Gene loss is common, and in particular we identify nearly 5,000 genes that may have been lost from the lineage leading to the model nematode C. elegans. We find a preponderance of novelty, including 56,000 nematode-restricted protein families and 26,000 nematode-restricted domains. Mapping of the latest time-of-origin of these new families and domains across the nematode phylogeny revealed ongoing evolution of novelty. A number of genes from parasitic species had signatures of horizontal transfer from their host organisms, and parasitic species had a greater proportion of novel, secreted proteins than did free-living ones.These classes of genes may underpin parasitic phenotypes, and thus may be targets for development of effective control measures.

  2. On the Extent and Origins of Genic Novelty in the Phylum Nematoda

    Science.gov (United States)

    Wasmuth, James; Schmid, Ralf; Hedley, Ann; Blaxter, Mark

    2008-01-01

    Background The phylum Nematoda is biologically diverse, including parasites of plants and animals as well as free-living taxa. Underpinning this diversity will be commensurate diversity in expressed genes, including gene sets associated specifically with evolution of parasitism. Methods and Findings Here we have analyzed the extensive expressed sequence tag data (available for 37 nematode species, most of which are parasites) and define over 120,000 distinct putative genes from which we have derived robust protein translations. Combined with the complete proteomes of Caenorhabditis elegans and Caenorhabditis briggsae, these proteins have been grouped into 65,000 protein families that in turn contain 40,000 distinct protein domains. We have mapped the occurrence of domains and families across the Nematoda and compared the nematode data to that available for other phyla. Gene loss is common, and in particular we identify nearly 5,000 genes that may have been lost from the lineage leading to the model nematode C. elegans. We find a preponderance of novelty, including 56,000 nematode-restricted protein families and 26,000 nematode-restricted domains. Mapping of the latest time-of-origin of these new families and domains across the nematode phylogeny revealed ongoing evolution of novelty. A number of genes from parasitic species had signatures of horizontal transfer from their host organisms, and parasitic species had a greater proportion of novel, secreted proteins than did free-living ones. Conclusions These classes of genes may underpin parasitic phenotypes, and thus may be targets for development of effective control measures. PMID:18596977

  3. New species of Bakeria (Nematoda; Strongylida; Molineidae), new species of Falcaustra (Nematoda; Ascaridida; Kathlaniidae) and other helminths in Cnemaspis mcguirei (Sauria; Gekkonidae) from Peninsular Malaysia.

    Science.gov (United States)

    Bursey, Charles R; Goldberg, Stephen R; Grismer, L Lee

    2014-10-01

    Two new nematode species, Bakeria schadi sp. nov. and Falcaustra malaysiaia sp. nov. from the gastrointestinal tract of McGuire's rock gecko, Cnemaspis mcguirei (Sauria: Gekkonidae) collected in Peninsular Malaysia are described. The two species now assigned to Bakeria are separated on the bases of male bursa type and location of the excretory pore: type II in B. schadi sp. nov. and type I in B. bakeri; location of excretory pore, anterior to nerve ring in B. schadi sp. nov. and posterior to nerve ring in B. bakeri. Falcaustra malaysiaia sp. nov. is most similar to F. chabaudi, F. concinnae, F. condorcanquii, F. barbi, F. dubia, and F. tchadi in that these 7 species possess 1 pseudosucker, 1 median papilla plus 10 pairs caudal papillae, and spicules with lengths between 1 and 2 mm. F. barbi and F. tchadi lack adcloacal papillae; the remaining 5 species possess 1 pair of adcloacal papillae. Falcaustra chabaudi is known from Nearctic salamanders; F. concinnae from Nearctic turtles; F. condorcanquii from Neotropical frogs, F. dubia from Oriental frogs, and F. malaysiaia sp. nov. from Oriental geckos. Two additional species of Nematoda were found, Cosmocerca ornata and Meteterakis singaporensis. Cnemaspis mcguirei represents a new host record for Cosmocerca ornata and Meteterakis singaporensis.

  4. Imunomapeamento nas epidermólises bolhosas hereditárias Immunological mapping in hereditary epidermolysis bullosa

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    Zilda Najjar Prado de Oliveira

    2010-12-01

    Full Text Available O imunomapeamento, uma técnica de imunofluorescência, é o método atual mais utilizado para o diagnóstico laboratorial e a diferenciação dos principais tipos de epidermólise bolhosa hereditária, uma vez que determina o plano de clivagem na junção dermo-epidérmica das doenças mecano-bolhosas.Immunological mapping, an immunofluorescence technique, is currently the method most used to diagnose and differentiate the principal types of hereditary epidermolysis bullosa, since this technique is capable of determining the level of cleavage of this mechanobullous disease.

  5. A homozygous nonsense mutation in the {beta}3 chain gene of laminin 5 (LAMB3) in herlitz junctional epidermolysis bullosa

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    Pulkkinen, L.; Christiano, A.M.; Uitto, J. [Thomas Jefferson Univ., Phildelphia, PA (United States)] [and others

    1994-11-15

    Herlitz junctional epidermolysis bullosa (H-JEB) is a severe autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane. Based on immunofluorescence analysis recognizing laminin 5 epitopes (previously known as nicein/kalinin), the genes for this lamina lucida protein have been proposed as candidate genes in H-JEB. Amplification of mRNA by RT-PCR, followed by direct nucleotide sequencing, revealed a homozygous C-to T transition resulting in a premature termination codon (CGA{r_arrow}TGA) on both alleles. This mutation was verified at the genomic DNA level, and both parents were shown to be heterozygous carriers of the same mutation. This is the first description of a mutation in the laminin {beta}3 chain gene (LAMB3) of laminin 5 in an H-JEB patient. 15 refs., 2 figs.

  6. An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned

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    Eleftheriou Despina

    2011-06-01

    Full Text Available Abstract Recessive Dystrophic Epidermolysis Bullosa (RDEB is a rare and severe hereditary skin disease. Oligoarticular Juvenile Idiopathic Arthritis (JIA although infrequent in the general paediatric population, is the most frequent type of autoimmune joint disease in children. While different in aetiology, both diseases are characterized by gradual deterioration in mobility and function. We report a female patient, diagnosed with RDEB at birth, who presented with inflammatory bowel disease (IBD at the age of four years, and subsequently developed oligoarticular JIA at seven years of age, and discuss the diagnostic and treatment challenges of this unusual case. This report, besides presenting a unique case, also highlights the important issues that need to be taken into account when assessing and managing patients with such complex conditions.

  7. Clinical and immunological studies for 105 Japanese seropositive patients of epidermolysis bullosa acquisita examined at Kurume University.

    Science.gov (United States)

    Hashimoto, Takashi; Jin, Zhexiong; Ishii, Norito

    2016-08-01

    Using our serological diagnostic criteria, we selected 105 Japanese patients with epidermolysis bullosa acquisita (EBA), an autoimmune bullous disease (AIBD) reacting with type VII collagen, from our cohort of 5063 AIBD patients. We examined the patients clinically and immunologically. We found diversity of clinical manifestations in both cutaneous and oral mucosal lesions and a high rate of inflammatory-type EBA patients in Japan. Common treatments were systemic steroids, followed by immunosuppressives, DDS, tetracycline/minocycline and colchicine. Immunological studies revealed that indirect immunofluorescence of 1M-NaCl-split skin, immunoblotting of dermal extract, and type VII collagen ELISA were sensitive methods, with possible multiplicity of circulating autoantibodies against other basement membrane autoantigens. The present study analyzed the largest cohort of EBA patients, confirming the scarcity of EBA (only 105 of the 5063 AIBD patients), and showed that the three serological tests are useful for the diagnosis of EBA.

  8. Dystrophic Epidermolysis Bullosa in Pregnancy: A Case Report of the Autosomal Dominant Subtype and Review of the Literature

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    Nicole Colgrove

    2014-01-01

    Full Text Available Epidermolysis bullosa (EB is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. There are three main categories of EB: simplex, junctional, and dystrophic. This classification is based on the level of tissue separation within the basement membrane zone and this is attributed to abnormalities of individual or several anchoring proteins that form the interlocking network spanning from the epidermis to the dermis underneath. Dystrophic EB results from mutations in COL7A1 gene coding for type VII collagen leading to blister formation within the dermis. Diagnosis ultimately depends on the patient’s specific genetic mutation, but initial diagnosis can be made from careful examination and history taking. We present a pregnant patient known to have autosomal dominant dystrophic EB and discuss the obstetrical and neonatal outcome. The paper also reviews the current English literature on this rare skin disorder.

  9. External Ocular Manifestations in Autosomal Dominant Dystrophic Epidermolysis Bullosa; a Case Report

    Directory of Open Access Journals (Sweden)

    Manizheh Mahdavi

    2008-11-01

    Full Text Available

    PURPOSE: To present a case of autosomal dominant dystrophic epidermolysis bullosa with symblepharon formation due to eye rubbing. CASE REPORT: A 10-year-old girl suffering from blistering and ulcerative lesions of the trunk and palms and dystrophic nails since childhood was referred to our clinic with a symblepharon connecting the medial portion of the right upper lid to the superonasal quadrant of the cornea. The central cornea in both eyes exhibited mild subepithelial opacification. She had history of eye rubbing due to foreign body sensation in the right eye, resulting in red eye and blister-like conjunctival lesions since three years ago. She had previously undergone surgical symblepharon removal leading to more severe recurrence of the condition. CONCLUSION: Dominant dystrophic epidermolysis bullosa may be accompanied by external ocular manifestations. Protection of the eye from minor trauma such as rubbing may help prevent ocular complications.

  1. Draft Whole-Genome Sequence of Serratia marcescens Strain MCB, Associated with Oscheius sp. MCB (Nematoda: Rhabditidae) Isolated from South Africa

    OpenAIRE

    Serepa, Mahloro H.; Vincent M. Gray

    2014-01-01

    Here we report on the draft genome sequence of Serratia marcescens strain MCB associated with Oscheius sp. MCB (Nematoda: Rhabditidae) isolated from South African soil. S. marcescens strain MCB has 5,304,212-bp genome size with 4,877 genes and a G+C content of 59.1%.

  2. The nematode Diplotridena henryi (Nematoda : Diplotriaenoidea) as the possible cause of subcutaneous emphysema and respiratory insufficiency in a great tit (Parus major)

    Czech Academy of Sciences Publication Activity Database

    Literák, I.; Baruš, Vlastimil; Hauptmanová, K.; Halouzka, R.

    2003-01-01

    Roč. 40, č. 1 (2003), s. 23-25 ISSN 0440-6605 Institutional research plan: CEZ:AV0Z6093917 Keywords : Parus major * Nematoda * respiratory insufficiency Subject RIV: EG - Zoology Impact factor: 0.474, year: 2003

  3. A new species of Biacantha (Nematoda: Molineidae), a parasite of the common vampire bat from the Yungas, Argentina.

    Science.gov (United States)

    Oviedo, Mirna C; Ramallo, Geraldine; Claps, Lucía E; Miotti, M Daniela

    2012-12-01

    A new species of Biacantha Wolfgang, 1954 (Nematoda: Molineidae), is described from the common vampire bat, Desmodus rotundus Geoffroy and St. Hilaire, 1810, from northwest Argentina. Biacantha normaliae n. sp. Oviedo, Ramallo, and Claps, is characterized by the disposition and number of ridges of the synlophe, the excretory pore located on a knob, 2 lateral processes on the tail of females, the male caudal bursa morphology, and lack of gubernaculum. This is the first species of nematode described in a vampire bat from Argentina.

  4. Morphology of chimpanzee pinworms, Enterobius (Enterobius) anthropopitheci (Gedoelst, 1916) (Nematoda: Oxyuridae), collected from chimpanzees, Pan troglodytes, on Rubondo Island, Tanzania.

    Science.gov (United States)

    Hasegawa, Hideo; Ikeda, Yatsukaho; Fujisaki, Akiko; Moscovice, Liza R; Petrzelkova, Klara J; Kaur, Taranjit; Huffman, Michael A

    2005-12-01

    The chimpanzee pinworm, Enterobius (Enterobius) anthropopitheci (Gedoelst, 1916) (Nematoda: Oxyuridae), is redescribed based on light and scanning electron microscopy of both sexes collected from the feces of chimpanzees, Pan troglodytes, of an introduced population on Rubondo Island, Tanzania. Enterobius (E.) anthropopitheci is characterized by having a small body (males 1.13-1.83 mm long, females 3.33-4.73 mm long), a rather straight spicule with a ventral membranous formation in males, double-crested lateral alae in females, small eggs (53-58 by 24-28 microm), and a smooth eggshell with 3 longitudinal thickenings. Morphological comparison is made between the present and previous descriptions.

  5. Pseudascarophis brasiliensis sp. nov. (Nematoda: Cystidicolidae parasitic in the Bermuda chub Kyphosus sectatrix (Perciformes: Kyphosidae from southeastern Brazil

    Directory of Open Access Journals (Sweden)

    Felipe Bisaggio Pereira

    2013-06-01

    Full Text Available A new species of Pseudascarophis (Nematoda: Cystidicolidae found in the stomach of Kyphosus sectatrix (Linnaeus (Kyphosidae, off Rio de Janeiro, Brazil, is described. The new species can be differentiated from the other congeners by the presence of lateral alae, distinct but inconspicuous cephalic papillae at the anterior end, three pairs of precloacal and one pair of adcloacal papillae in males, egg morphology and morphometry of glandular oesophagus and spicules. Pseudascarophis tropica is transferred to Ascarophis as Ascarophis tropica (Solov'eva comb. n. due to its ambiguous diagnosis.

  6. Pseudascarophis brasiliensis sp. nov. (Nematoda: Cystidicolidae) parasitic in the Bermuda chub Kyphosus sectatrix (Perciformes: Kyphosidae) from southeastern Brazil

    Science.gov (United States)

    Pereira, Felipe Bisaggio; Pereira, Aldenice de Nazaré; Timi, Juan Tomás; Luque, José Luis

    2013-01-01

    A new species of Pseudascarophis (Nematoda: Cystidicolidae) found in the stomach of Kyphosus sectatrix (Linnaeus) (Kyphosidae), off Rio de Janeiro, Brazil, is described. The new species can be differentiated from the other congeners by the presence of lateral alae, distinct but inconspicuous cephalic papillae at the anterior end, three pairs of precloacal and one pair of adcloacal papillae in males, egg morphology and morphometry of glandular oesophagus and spicules. Pseudascarophis tropica is transferred to Ascarophis as Ascarophis tropica (Solov'eva) comb. n. due to its ambiguous diagnosis. PMID:23828003

  7. Anisakis simplex (Nematoda: Anisakidae from horse mackerel (Trachurus trachurus in Atlantic coast of Morocco

    Directory of Open Access Journals (Sweden)

    Nizar Shawket

    2017-08-01

    Full Text Available Objective: To focus on the description of the Anisakis simplex (A. simplex parasites of Trachurus trachurus (Linnaeus, 1758 from the Atlantic coast of Mehdia (Kenitra, Morocco from December 2014 to November 2015. Methods: A total of 1 012 Trachurus trachurus (Linnaeus, 1758 obtained from commercial fishing were performed autopsy for their parasitic Nematoda. Then 6 695 specimens of A. simplex were collected from their abdominal cavity. These parasites were attached on different organs particularly on ovaries and testes. All parasites were counted, measured and photographed under microscopy. Results: The infection levels of fishes by larval A. simplex are expressed by prevalence (35.28%, mean intensity (18.75 and abundance (6.6. The effect of parasitism did not show a significant negative impact on the condition of the examined fishes. Conclusions: Significant positive correlations were found between host length and A. simplex occurrence, and abundance. The variation observed in the infection levels was discussed within the seasons and climatic change.

  8. Biological responses of Rhynchophorus ferrugineus (Coleoptera: Curculionidae) to Steinernema carpocapsae (Nematoda: Steinernematidae).

    Science.gov (United States)

    Manachini, Barbara; Schillaci, Domenico; Arizza, Vincenzo

    2013-08-01

    Rhynchophorus ferrugineus (Olivier 1790) (Coleoptera: Curculionidae) is becoming a serious problem in Mediterranean areas where it is well-adapted, and now is present even in the United States (California). The infestations are primarily in urban areas where chemical control is not advisable and million of Euros are spent to control it. The effects of the entomopathogenic nematode Steinernema carpocapsae (Nematoda: Steinernematidae) on mortality, growth, as well as the immune activity of R. ferrugineus larvae, were investigated. R. ferrugineus mortality exhibited a positive trend with the dosage and duration of exposure to S. carpocapsae. The median lethal dose and median lethal time, important to optimize the treatments, were calculated. S. carpocapsae also had a detrimental effect on R. ferrugineus weight. In vivo and in vitro effects of S. carpocapsae on the phagocytic responses of R. ferrugineus hemocytes also were recorded. S. carpocapsae was not encapsulated by R.ferrugineus hemocytes. After 24 h, the number of hemocytes recorded in treated larvae was reduced. To investigate the defensive abilities of R. ferrugineus humoral and cellular immune systems, specifically against the bacterium Xenorhabdus nematophila (Enterobacteraceae), the minimum inhibitory concentration that inhibits bacterial growth was measured. This is the first time that this technique is applied to entomopathogenic bacteria.

  9. Three new species of Pharygodonidae (Nematoda: Oxyuridea) in Laudakia tuberculata (Squamata: Agamidae) from Dehradun, Uttarakhand, India.

    Science.gov (United States)

    Rizvi, Anjum N; Maity, Pallab; Bursey, Charles R

    2017-06-01

    Parapharyngodon tuberculata sp. nov., Thelandros tuberculata sp. nov. and Thelandros dehradunensis sp. nov. (Nematoda: Pharyngodonidae) from the large intestine of a rock lizard, Laudakia tuberculata Gray, 1827), are described and illustrated. Parapharyngodon tuberculata sp. nov. is the 8th Oriental species and 59th species assigned to the genus Parapharyngodon and differs from other species of the genus by possessing 3 pairs of caudal papillae, an echinate cloacal lip, 112-115 µm spicule length and postbulbar ovary. Thelandros tuberculata sp. nov. is the 5th and Thelandros dehradunensis sp. nov. the 6th Oriental species, respectively, and they are the 40th and 41st species assigned to the genus Thelandros. They differ from other species of the genus in caudal papillae arrangement, length of spicules, and structure of the anterior end of the esophagus. We transfer Parapharyngodon arequipensis Calisaya and Cordova, 1997 to Thelandros arequipensis (Calisaya and Cordova, 1997) comb. n. based upon the presence of a terminal operculum in the egg and large, pendant, caudal papillae.

  10. Prevalensi Infeksi Cacing Nematoda pada Ular Python Reticulatus yang Dipelihara Pecinta Ular di Denpasar

    Directory of Open Access Journals (Sweden)

    Febriyani R R Telnoni

    2016-03-01

    Full Text Available Penelitian ini bertujuan untuk mengetahui prevalensi infeksi dan jenis cacing yang menginfeksi ular Python reticulatus asal Bali. Penelitian menggunakan 30 ekor ular Python reticulatus yang dipelihara pecinta ular di Denpasar melalui pemeriksaan koproskopi. Data yang diperoleh dianalisis secara deskriptif dan disampaikan secara sistematis dalam narasi tertulis. Hasil penelitian menunjukan bahwa 22 sampel feses positif terinfeksi cacing nematoda dengan prevalensi sebesar 73,32%. Jenis cacing yang menginfeksi tunggal antara lain Oxyuris sp,Rhabdias sp, Kalicephalus sp, dan Ophidascaris sp masing masing dengan prevalensi sebesar 36.67%, 6.67%, 3.33%, 3.33%. Infeksi campuran antara lain Rhabdias sp dan Oxyuris sp(6.67 %, Rhabdias sp, Kalicephalus, Oxyuris sp dan Ophidascaris sp (3.33%, Rhabdias sp, Strongyloides sp, dan Oxyuris sp (3.33%, Oxyuris sp dan Ophidascaris (3.33%, Rhabdias sp, Kalicephalus,dan Oxyuris sp (3.33%, Rhabdias sp, Kalicephalus, Strongyloides sp dan Ophidascaris sp (3.33%. Berdasarkan hasil penelitian dapat disimpulkan bahwa pada satu ekor ular Python reticulatus tidak hanya terinfeksi oleh satu jenis cacing saja, melainkan dapat juga terinfeksi oleh dua atau tiga jenis cacing.

  11. The occurrence and pathogenicity of Serratospiculum tendo (Nematoda: Diplotriaenoidea) in birds of prey from southern Italy.

    Science.gov (United States)

    Santoro, M; D'Alessio, N; Di Prisco, F; Kinsella, J M; Barca, L; Degli Uberti, B; Restucci, B; Martano, M; Troisi, S; Galiero, G; Veneziano, V

    2016-05-01

    The air sacs of free-ranging birds of prey (n= 652) from southern Italy, including 11 species of Accipitriformes and six of Falconiforms, were examined for infections with Serratospiculum tendo (Nematoda: Diplotriaenoidea). Of the 17 species of birds examined, 25 of 31 (80.6%) peregrine falcons (Falco peregrinus) from Calabria Region and a single northern goshawk (Accipiter gentilis) from Campania Region were infected with S. tendo, suggesting a strong host specificity for the peregrine falcon. The northern goshawk and 18 of 25 infected peregrine falcons showed cachexia and all infected birds had bone fractures. At gross examination, air sacculitis and pneumonia were the most common lesions in infected birds. Microscopically, the air-sac walls showed thickening of the smooth muscle cells, resulting in a papillary appearance, along with hyperplasia of the mesothelium and epithelium, and foci of plasma cell infiltration and macrophages associated with several embryonated eggs and adult parasites. Extensive areas of inflammation were found in the lungs, characterized by lymphocytes, macrophages and fibroblasts surrounding embryonated eggs. The northern goshawk also had detachment of the dextral lung with several necrotic foci. In this case, the death of the bird was directly attributed to S. tendo infection. Lesions and pathological changes observed here suggest that S. tendo can cause disease.

  12. First record of the genus Rhabdias (Nematoda: Rhabdiasidae, endoparasite from Scinax staufferi (Anura: Hylidae in Mexico Primer registro del género Rhabdias (Nematoda: Rhabdiasidae, endoparásito de Scinax staufferi (Anura: Hylidae en México

    Directory of Open Access Journals (Sweden)

    Elizabeth Aurelia Martínez-Salazar

    2009-12-01

    Full Text Available A lungworm of the genus Rhabdias (Nematoda: Rhabdiasidae was recovered from Scinax staufferi (Anura: Hylidae collected in Guadalupe Victoria Mapastepec, Chiapas, Mexico (15°28'28"N, 92°53'26"W, 102 m. Morphology of the nematode is briefly described and compared with other species of the genus, and mainly with parasites of hylids in the Neotropical Realm. This study represents the first record of a species of Rhabdias species parasitizing S. staufferi, and also constitutes the first record of a nematode parasite of hylid frogs in Chiapas State, Mexico.Un gusano pulmonar del género Rhabdias (Nematoda: Rhabdiasidae fue recuperado de Scinax staufferi (Anura: Hylidae recolectado en Guadalupe Victoria Mapastepec, Chiapas, México (15°28'28"N, 92°53'26"O, 102 m. La morfología del rhabdiásido se describe brevemente y se compara con otras especies del género y principalmente con aquellas parásitas de hílidos distribuidos en la región Neotropical. El presente estudio representa el primer registro de una especie de Rhabdias como parásito de S. staufferi, y también constituye el primer registro de un nematodo parásito en hílidos para el estado de Chiapas, México.

  13. Epidermólise bolhosa albopapulóide (variante de Pasini Albopapuloid epidermolysis bullosa (Pasini's variant

    Directory of Open Access Journals (Sweden)

    Letícia Pereira Spinelli

    2003-08-01

    Full Text Available A epidermólise bolhosa albopapulóide é doença rara, de caráter autossômico dominante, também conhecida como epidermólise bolhosa distrófica albopapulóide de Pasini. Os autores relatam o caso de uma paciente de 37 anos de idade, com início do quadro aos sete anos, com lesões bolhosas e milia nas áreas de traumatismo, além de máculas hipocrômicas e atróficas (lesões albopapulóides no corpo. A paciente também apresenta pele apergaminhada, xerótica, e distrofia ungueal dos pés. A histopatologia da lesão bolhosa revelou clivagem subepidérmica, compatível com o diagnóstico clínico.Albopapuloid epidermolysis bullosa (Pasini's variant is a rare, autosomal dominant inherited disorder. The authors report the case of a 37-year-old female patient with blisters on trauma areas, atrophic macules (albopapuloid lesions and milia, with onset of disease at age seven. The histopathological exam of the blister reveals a subepidermal cleavage.

  14. Cloning of the {beta}3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

    Energy Technology Data Exchange (ETDEWEB)

    Pulkkinen, L.; Christiano, A.M.; Uitto, J. [Thomas Jefferson Univ., Philadelphia, PA (United States)] [and others

    1995-01-01

    Laminin 5 consists of three polypeptides, {alpha}3, {beta}3, and {gamma}2, encoded by the genes LAMA3, LAMB3, and LAMC2, respectively. In this study, we have elucidated the exon-intron organization of the human LAMB3 gene. Characterization of five overlapping {lambda} phage DNA clones revealed that the gene was approximately 29 kb in size. Subsequent sequence data revealed that the gene consisted of 23 exons that varied from 64 to 379 bp in size, accounting for the full-length cDNA with an open reading frame of 3516 hp encoding 1172 amino acids. Comparison of the LAMB3 gene structure with the previously characterized LAMB1 gene revealed that LAMB3 was considerably more compact. Knowledge of the exon-intron organization of the LAMB3 gene will facilitate elucidation of mutations in patients with the junctional forms of epidermolysis bullosa, some of which have been associated with mutations in the laminin 5 genes. 33 refs., 3 figs., 2 tabs.

  15. A newborn presenting with epidermolysis bullosa with duodenal atresia: A very rare case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Sharad Bansal

    2015-12-01

    Full Text Available Background: Epidermolysis bullosa (EB comprises a group of genetically determined skin fragility disorders, which are characterized by blistering of the skin and mucosa, in response to little or no apparent trauma. These disorders represent heterogeneous phenotypes and are associated with various complications ranging from localized skin fragility to neonatal death. Nevertheless, the term "Epidermolysis" is a misnomer as epidermal disruption is not the principal alteration in two of the primary types of EB. In clinical, laboratory and epidemiological studies, this complex and heterogeneous group of disorders is classified, on the basis of the mode of inheritance, into three major types: EB simplex (EBS, junctional EB (JEB and dystrophic EB (DEB. EB is a rare disease with an incidence rate of approximately 50 in 1 million live births, and 9 in 1 million people in the world population. Of these cases, about 92% are EBS, 5% are DEB, 1% is JEB and 2% are unclassified (1. Case presentation: In this study, we presented the case of a male newborn with EB and concomitant pyloric stenosis. To the best of our knowledge, only one case of this rare combination of EB with duodenal atresia has been retrieved in PubMed.

  16. CORRECTION OF NUTRITIONAL STATUS IN COMPLEX THERAPY FOR CHILDREN SUFFERING FROM DYSTROPHIC FORMS OF INNATE EPIDERMOLYSIS BULLOSA

    Directory of Open Access Journals (Sweden)

    S. G. Makarova

    2016-01-01

    Full Text Available Children  suffering  from  dystrophic  forms  of  innate  epidermolysis  bullosa  (IEB,  have  malnutrition  of  multifactorial  genesis.  And, despite the experience of working with this complex group of patients, many practical issues of optimal nutrition organization at IEB remain  unsolved.  The review presents  modern  approaches  to the assessment  of nutritional status  with children,  including those developed for the assessment of eating disorders with children having IEB; the formulas for calculating the nutrient requirement are presented. The analysis of the scientific data on the pathogenesis and characteristics of disturbances in nutritional status with children having IEB is done. It is noted that the complexity of nutritional support of this severe category of patients is due to a mismatch between the increased need for nutrients and limited assimilation of food, which requires a special diet with increased energy and protein value without increasing the amount of food intake. Reasonability of the organization of feeding children having IEB with specialized products for enteral nutrition and nutritional support is analyzed.

  17. Successful Placement of a BAHA Implant in a Patient With Epidermolysis Bullosa: A Case Report and Review of the Literature.

    Science.gov (United States)

    Brown, Jason R; Milgraum, D Micah; Riyaz, Farhaad R; Jahnke, Marla N; Thottam, Prasad John

    2017-11-01

    Epidermolysis bullosa (EB) is a spectrum of mechanobullous disorders characterized by blistering following minor trauma or traction to the skin. Hearing loss in this population is poorly described in the otolaryngology literature, and its treatment oftentimes results in external auditory canal skin irritation. We present the case of a 26-year-old female with EB and mixed hearing loss unable to wear conventional hearing aids due to sequelae of the external auditory canals. An osseointegrated implant was used as other hearing aids were deemed to be too destructive of the external auditory canal skin. Management and Outcome: Our patient underwent placement of a right bone-anchored hearing aid with minimal disruption of the surrounding skin using a minimally invasive punch technique. Over 1 year of follow-up, her course was complicated by 1 simple cellulitic infection at the surgical site treated successfully with oral antibiotics. The literature regarding the otolaryngologic manifestations of EB is sparse. The otologic sequelae are particularly overlooked in the workup and management. Based on the results of this case study, it appears that an osseointegrated implant can be safely utilized to treat significant mixed or conductive hearing loss in patients with EB.

  18. Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study

    Directory of Open Access Journals (Sweden)

    Agnes Schwieger-Briel

    2017-01-01

    Full Text Available Introduction. Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB. Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. In this study, we tested the wound healing properties of topical Oleogel-S10 in patients with dystrophic EB. Methods. We conducted an open, blindly evaluated, controlled, prospective phase II pilot trial in patients with dystrophic EB (EudraCT number 2010-019945-24. Healing of wounds treated with and without topical Oleogel-S10 was compared. Primary efficacy variable was faster reepithelialization as determined by 2 blinded experts. The main secondary outcome variable of the study was percentage of wound epithelialization. Results. Twelve wound pairs of 10 patients with dystrophic EB were evaluated. In 5 of 12 cases, both blinded reviewers considered epithelialization of the intervention wounds as superior. In 3 cases, only one reviewer considered Oleogel-S10 as superior and the other one as equal to control. Measurements of wound size showed a trend towards accelerated wound healing with the intervention but without reaching statistical significance. Conclusion. Our results indicate a potential for faster reepithelialization of wounds in patients with dystrophic EB when treated with Oleogel-S10 but larger studies are needed to confirm significance.

  19. Development of an ELISA for rapid detection of anti-type VII collagen autoantibodies in epidermolysis bullosa acquisita.

    Science.gov (United States)

    Chen, M; Chan, L S; Cai, X; O'Toole, E A; Sample, J C; Woodley, D T

    1997-01-01

    Epidermolysis bullosa acquisita (EBA) is an acquired blistering skin disease characterized by the presence of IgG autoantibodies to type VII collagen. EBA autoantibodies recognize four major immunodominant epitopes localized within the amino-terminal, noncollagenous (NC1) domain. In this study, we developed a rapid, quantitative enzyme-linked immunosorbent assay (ELISA) to detect autoantibody activity against the complete NC1 domain of type VII collagen with the use of an eukaryotic-expressed, recombinant human NC1 antigen. With the ELISA, we tested serum from patients with EBA (n = 24), bullous systemic lupus erythematosus (BSLE) (n = 3), bullous pemphigoid (n = 16), pemphigus (n = 11), and normal controls (n = 12). All EBA and BSLE serum, including four sera that were negative by indirect immunofluorescence, demonstrated reactivity with immobilized NC1 in the ELISA. In contrast, none of the sera from healthy control subjects or patients with unrelated blistering skin diseases reacted with NC1. The EBA sera also reacted with recombinant NC1 by immunoblot analysis but with less sensitivity. Thus, the newly developed ELISA using recombinant NC1 is a sensitive, specific assay and a useful tool for rapidly screening EBA and BSLE serum.

  20. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.

    Directory of Open Access Journals (Sweden)

    Julia Niskanen

    Full Text Available A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species. We describe here a novel EB variant in dogs. Two newborn littermates of Central Asian Shepherd dogs with severe signs of skin blistering were brought to a veterinary clinic and euthanized due to poor prognosis. In post-mortem examination, the puppies were shown to have findings in the skin and the mucosal membranes characteristic of EB. A whole-genome sequencing of one of the affected puppies was performed to identify the genetic cause. The resequencing data were filtered under a recessive model against variants from 31 other dog genomes, revealing a homozygous case-specific nonsense variant in one of the known EB-causing genes, COL7A1 (c.4579C>T, p.R1527*. The variant results in a premature stop codon and likely absence of the functional protein in the basement membrane of the skin in the affected dogs. This was confirmed by immunohistochemistry using a COL7A1 antibody. Additional screening of the variant indicated full penetrance and breed specificity at ~28% carrier frequency. In summary, this study reveals a novel COL7A1 variant causing recessive dystrophic EB and provides a genetic test for the eradication of the disease from the breed.

  1. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.

    Directory of Open Access Journals (Sweden)

    Stephen A Watt

    Full Text Available Recessive dystrophic epidermolysis bullosa (RDEB is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility. Here, we identify a significant decrease in PLOD3 expression and its encoded protein, the collagen modifying enzyme lysyl hydroxylase 3 (LH3, in RDEB. We show abundant LH3 localising to the basement membrane in normal skin which is severely depleted in RDEB patient skin. We demonstrate expression is in-part regulated by endogenous type VII collagen and that, in agreement with previous studies, even small reductions in LH3 expression lead to significantly less secreted LH3 protein. Exogenous type VII collagen did not alter LH3 expression in cultured RDEB keratinocytes and we show that RDEB patients receiving bone marrow transplantation who demonstrate significant increase in type VII collagen do not show increased levels of LH3 at the basement membrane. Our data report a direct link between LH3 and endogenous type VII collagen expression concluding that reduction of LH3 at the basement membrane in patients with RDEB will likely have significant implications for disease progression and therapeutic intervention.

  2. Mutation Analyses of COL7A1 Gene in Three Taiwanese Patients with Severe Recessive Dystrophic Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Sheau-Chiou Chao

    2007-01-01

    Full Text Available Dystrophic epidermolysis bullosa (DEB is a hereditary mechanobullous disorder characterized by fragility of the skin and mucous membranes caused by abnormal anchoring fibrils. Both dominant and recessive DEB are caused by mutations in COL7A1, the gene encoding type VII collagen, the major component of anchoring fibrils. We performed mutation analysis of COL7A1 in three patients with recessive DEB. The diagnosis of DEB was based on the characteristic clinical features and confirmed histopathologically. All 118 exons and flanking intron boundaries of COL7A1 were amplified. Four novel mutations (3373insGG, 7769delG, E1535X, G2061E and two potential splicing mutations were detected. The first three of these mutations resulted in premature termination codons, while G2061E caused a glycine substitution mutation in the triple-helical domain. This is the first report of mutation analyses of the COL7A1 gene in Taiwanese pedigrees with recessive DEB. Each patient had a heterozygous premature termination codon mutation combined with either a glycine substitution mutation in the critical triple-helical collagenous domain or a potential splicing mutation. These genotypes correlate well with the severe clinical phenotype of recessive DEB. [J Formos Med Assoc 2007;106(1:86-91

  3. Epidermólise bolhosa distrófica pruriginosa: relato de caso Epidermolysis bullosa pruriginosa: case report

    Directory of Open Access Journals (Sweden)

    Márcio José Silva de Souza

    2005-12-01

    Full Text Available A epidermólise bolhosa distrófica pruriginosa é doença genética rara cujo padrão de herança ainda não está bem estabelecido na literatura. O defeito genético, que envolve a codificação do colágeno tipo VII, está localizado no braço curto do cromossomo 3, ocorrendo mutação no gene COL7A1. Apresenta-se o caso de um paciente do sexo masculino que referia prurido nas pernas há cerca de 15 anos, cujo diagnóstico foi firmado com base nos exames dermatológico e imuno-histopatológico. Devido à raridade dessa condição patológica, realiza-se breve revisão do tema.Epidermolysis bullosa pruriginosa is a rare genetic disease that the pattern of inheritance still remains not established in the literature. The genetic defect, that disturbes the type VII collagen encoding, is located on the short arm of chromosome 3, with mutation in gene COL7A1. We report a male patient that was affected by itching on the legs for about 15 years, and the diagnostic was made based on clinicopathological features. Due to low frequency of this disease, we performed a brief review about this topic.

  4. Premature termination codons in the Type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

    Energy Technology Data Exchange (ETDEWEB)

    Christiano, A.M.; Uitto, J. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Anhalt, G. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Gibbons, S.; Bauer, E.A. (Stanford Univ. School of Medicine, CA (United States))

    1994-05-01

    Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. The most severe, dystrophic (scarring) forms of EB demonstrate blister formation below the cutaneous basement membrane at the level of the anchoring fibrils. Ultrastructural observations of altered anchoring fibrils and genetic linkage to the gene encoding type VII collagen (COL7A1), the major component of anchoring fibrils, have implicated COL7A1 as the candidate gene in the dystrophic forms of EB. The authors have recently cloned the entire cDNA and gene for human COL7A1, which has been mapped to 3p21. In this study, they describe mutations in four COL7A1 alleles in three patients with severe, mutilating recessive dystrophic EB (Hallopeau-Siemens type, HS-RDEB). Each of these mutations resulted in a premature termination codon (PTC) in the amino-terminal portion of COL7A1. One of the patients was a compound heterozygote for two different mutations. The heterozygous carriers showed an [approximately] 50% reduction in anchoring fibrils, yet were clinically unaffected. Premature termination codons in both alleles of COL7A1 may thus be a major underlying cause of the severe, recessive dystrophic forms of EB. 40 refs., 8 figs.

  5. Nematoda: Longidoridae

    African Journals Online (AJOL)

    1988-03-31

    Mar 31, 1988 ... The cytogenetics of several South African species of Xiphinema were studied and compared with the existing data for this genus from Europe. The process of oogenesis appears to be very similar in all species studied, with little interspecific and intraspecific differences. The ovaries of the South African ...

  6. Nematoda: Dorylaimida

    African Journals Online (AJOL)

    1992-04-02

    Apr 2, 1992 ... Zoo1. 1993,28(1) respectively. Vulva a long transverse slit. Individual cells of uteri difficult to discern; no pars dilatata uteri or pars dilatata oviductus present. Sphincter muscle between uterus and oviduct not visible. Anterior and posterior ovaries 41. ~m and 48 ~m long. No eggs or sperm cells present.

  7. Nematoda: Onchulidae

    African Journals Online (AJOL)

    1989-07-17

    Jul 17, 1989 ... Female reproductive system didelphic, amphidelphic. Vulva transverse, oval shaped, with grooved sides. (Figure 2E). Vagina short, uterus well developed, usual- ly filled with sperm cells (Figure lK). Sperm ceUs large, about 13 IJ.m x 10 IJ.m, their surface covered by minute punctations (Figure lK & 2F).

  8. A new Cephalobium Cobb (Nematoda, Cephalobiidae, a parasite of Anurogryllus Muticus (De Geer (Orthoptera, Gryllidae from Argentina

    Directory of Open Access Journals (Sweden)

    Nora B. Camino

    2006-01-01

    Full Text Available A new species of Cephalobium from Gorina, La Plata, Argentina, parasiting nymphs of Anurogryllus muticus (De Geer (Orthoptera, Gryllidae is described and illustrated. This nematode can be characterized by having the stoma longer than broad, the glottoid apparatus anisoglottid and anisomorphic, divided into two portions, one with cuticularized walls and the other with three simple dorsal teeth. The male is further characterized by the presence of two long and separated spicules and short gubernaculum without any projection. Genital papillae are arranged in five postanal pairs.Uma espécie nova do gênero Cephalobium (Nematoda, Cephalobiidae, parasita de Anurogryllus muticus (De Geer (Ortoptera, Gryllidae de Gorina, La Plata, Argentina, é descrita e ilustrada. Este nematoda pode ser caracterizado por apresentar estoma mais longo que largo, o aparelho glottoideo anisoglottideo e anisomórfico, dividido em duas porções, uma com paredes quitinizadas e a outra com três dentes dorsais simples. O macho possui espículas longas e separadas e o gubernáculo curto sem qualquer projeção. As papilas genitais estão organizadas em cinco pares pós-anais.

  9. Epidermolysis bullosa pruriginosa a clinico-pathological study in an index case, highlighting its affliction in 11 of 27 member of the family

    Directory of Open Access Journals (Sweden)

    Manisha Nijhawan

    2017-07-01

    Full Text Available Epidermolysis bullosa pruriginosa, a rare variant of dominant inheritance pattern, characterized by itchy, papules and/or nodules coalescing to form plaque(s, studded by blisters, is describe in a young man an index case. In all 12 afflicted individuals of the 27 family members was interesting, the diagnosis of which was made by its morphology and inflammatory changes in the epidermis, comprising hyperkeratosis, moderate acanthosis, presence of inflammatory cells, and above all inflammatory cell containing sub-epidermal cleavage or cleft.

  10. Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Cassandra Chaptini, MBBS

    2015-12-01

    Full Text Available We report a 20-year-old female with generalized, severe, recessive dystrophic epidermolysis bullosa who developed secondary chronic anal fissures. This resulted in anal sphincter spasm and severe, disabling pain. She was treated with five botulinum toxin A injections into the internal anal sphincter over a period of 2 years and gained marked improvement in her symptoms. This case demonstrates the successful use of botulinum toxin A injections to relieve anal sphincter spasm and fissuring, with long-term improvement.

  11. The caudal bursa in the Heligmonellidae (Nematoda: Trichostrongylina. Characterization and hypothesis on its evolution

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    Durette-Desset M.C.

    2012-02-01

    Full Text Available The different patterns of the caudal bursa of the Heligmonellidae (Nematoda are redefined, taking into account the grouping of rays 2-6 and the sequence of origin of these rays from their common trunk. The type of symmetry of the caudal bursa is also redefined. The following patterns were observed and characterized: the basic patterns: types 2-3, 2-2-1, 1-3-1 and 1-4 and the intermediary patterns: type 2-3 tending to type 2-2-1, type 2-2-1 tending to type 1-3-1, type 1-3-1 tending to type 1-4 and type 2-2-1 tending to type 1-4. An evolutionary interpretation of the patterns is attempted and seems to follow the direction: 2-3 to 2-2-1 to 1-3-1 to 1-4. Seven atypical patterns are described. The caudal bursae were classified based on their symmetry: subsymmetrical, dissymmetrical and asymmetrical. Independently of the type of symmetry, the two latero-ventral lobes may have the same or different patterns. The type of symmetry, the ratio between the two latero-ventral lobes and a characteristic pattern were utilized to characterize the caudal bursae at the level of the genus and the subfamily. The combination of the right/left ratio and the type of symmetry gives heterogeneous results, with no real association between these characters. The most conspicuous asymmetries and dissymmetries were found among the Nippostrongylinae. The most frequent pattern in the Heligmonellidae is the basic type 2-2-1; types 1-3-1 and 1-4 are less frequent but are characteristic of several genera; type 1-4 is absent from the Heligmonellinae. Whatever the pattern, in the Heligmonellidae rays 4 and 5 are the last to diverge from the common trunk of rays 2-6.

  12. Analysis of the Na+/Ca2+ exchanger gene family within the phylum Nematoda.

    Directory of Open Access Journals (Sweden)

    Chao He

    Full Text Available Na+/Ca2+ exchangers are low affinity, high capacity transporters that rapidly transport calcium at the plasma membrane, mitochondrion, endoplasmic (and sarcoplasmic reticulum, and the nucleus. Na+/Ca2+ exchangers are widely expressed in diverse cell types where they contribute homeostatic balance to calcium levels. In animals, Na+/Ca2+ exchangers are divided into three groups based upon stoichiometry: Na+/Ca2+ exchangers (NCX, Na+/Ca2+/K+ exchangers (NCKX, and Ca2+/Cation exchangers (CCX. In mammals there are three NCX genes, five NCKX genes and one CCX (NCLX gene. The genome of the nematode Caenorhabditis elegans contains ten Na+/Ca2+ exchanger genes: three NCX; five CCX; and two NCKX genes. Here we set out to characterize structural and taxonomic specializations within the family of Na+/Ca2+ exchangers across the phylum Nematoda. In this analysis we identify Na+/Ca2+ exchanger genes from twelve species of nematodes and reconstruct their phylogenetic and evolutionary relationships. The most notable feature of the resulting phylogenies was the heterogeneous evolution observed within exchanger subtypes. Specifically, in the case of the CCX exchangers we did not detect members of this class in three Clade III nematodes. Within the Caenorhabditis and Pristionchus lineages we identify between three and five CCX representatives, whereas in other Clade V and also Clade IV nematode taxa we only observed a single CCX gene in each species, and in the Clade III nematode taxa that we sampled we identify NCX and NCKX encoding genes but no evidence of CCX representatives using our mining approach. We also provided re-annotation for predicted CCX gene structures from Heterorhabditis bacteriophora and Caenorhabditis japonica by RT-PCR and sequencing. Together, these findings reveal a complex picture of Na+/Ca2+ transporters in nematodes that suggest an incongruent evolutionary history of proteins that provide central control of calcium dynamics.

  13. Analysis of the Na+/Ca2+ exchanger gene family within the phylum Nematoda.

    Science.gov (United States)

    He, Chao; O'Halloran, Damien M

    2014-01-01

    Na+/Ca2+ exchangers are low affinity, high capacity transporters that rapidly transport calcium at the plasma membrane, mitochondrion, endoplasmic (and sarcoplasmic) reticulum, and the nucleus. Na+/Ca2+ exchangers are widely expressed in diverse cell types where they contribute homeostatic balance to calcium levels. In animals, Na+/Ca2+ exchangers are divided into three groups based upon stoichiometry: Na+/Ca2+ exchangers (NCX), Na+/Ca2+/K+ exchangers (NCKX), and Ca2+/Cation exchangers (CCX). In mammals there are three NCX genes, five NCKX genes and one CCX (NCLX) gene. The genome of the nematode Caenorhabditis elegans contains ten Na+/Ca2+ exchanger genes: three NCX; five CCX; and two NCKX genes. Here we set out to characterize structural and taxonomic specializations within the family of Na+/Ca2+ exchangers across the phylum Nematoda. In this analysis we identify Na+/Ca2+ exchanger genes from twelve species of nematodes and reconstruct their phylogenetic and evolutionary relationships. The most notable feature of the resulting phylogenies was the heterogeneous evolution observed within exchanger subtypes. Specifically, in the case of the CCX exchangers we did not detect members of this class in three Clade III nematodes. Within the Caenorhabditis and Pristionchus lineages we identify between three and five CCX representatives, whereas in other Clade V and also Clade IV nematode taxa we only observed a single CCX gene in each species, and in the Clade III nematode taxa that we sampled we identify NCX and NCKX encoding genes but no evidence of CCX representatives using our mining approach. We also provided re-annotation for predicted CCX gene structures from Heterorhabditis bacteriophora and Caenorhabditis japonica by RT-PCR and sequencing. Together, these findings reveal a complex picture of Na+/Ca2+ transporters in nematodes that suggest an incongruent evolutionary history of proteins that provide central control of calcium dynamics.

  14. The caudal bursa in the Heligmonellidae (Nematoda: Trichostrongylina). Characterization and hypothesis on its evolution.

    Science.gov (United States)

    Durette-Desset, M C; Digiani, M C

    2012-02-01

    The different patterns of the caudal bursa of the Heligmonellidae (Nematoda) are redefined, taking into account the grouping of rays 2-6 and the sequence of origin of these rays from their common trunk. The type of symmetry of the caudal bursa is also redefined. The following patterns were observed and characterized: the basic patterns: types 2-3, 2-2-1, 1-3-1 and 1-4 and the intermediary patterns: type 2-3 tending to type 2-2-1, type 2-2-1 tending to type 1-3-1, type 1-3-1 tending to type 1-4 and type 2-2-1 tending to type 1-4. An evolutionary interpretation of the patterns is attempted and seems to follow the direction: 2-3 to 2-2-1 to 1-3-1 to 1-4. Seven atypical patterns are described. The caudal bursae were classified based on their symmetry: subsymmetrical, dissymmetrical and asymmetrical. Independently of the type of symmetry, the two latero-ventral lobes may have the same or different patterns. The type of symmetry, the ratio between the two latero-ventral lobes and a characteristic pattern were utilized to characterize the caudal bursae at the level of the genus and the subfamily. The combination of the right/left ratio and the type of symmetry gives heterogeneous results, with no real association between these characters. The most conspicuous asymmetries and dissymmetries were found among the Nippostrongylinae. The most frequent pattern in the Heligmonellidae is the basic type 2-2-1; types 1-3-1 and 1-4 are less frequent but are characteristic of several genera; type 1-4 is absent from the Heligmonellinae. Whatever the pattern, in the Heligmonellidae rays 4 and 5 are the last to diverge from the common trunk of rays 2-6.

  15. Descriptions of Deladenus albizicus n. sp. and D. processus n. sp. (Nematoda: Hexatylina) from Haryana, India

    Science.gov (United States)

    Tomar, V. V. S.; Somvanshi, Vishal S.; Bajaj, Harish K.

    2015-01-01

    Two different nematodes were isolated from the bark of Albizia lebbeck trees; one from insect infested and another from noninfested, healthy tree. Based on the biological, morphological, and molecular evidences, the nematodes are described as Deladenus albizicus n. sp. and D. processus n. sp. (Nematoda: Hexatylina). Deladenus albizicus n. sp., isolated from insect-infested tree, multiplied on the fungus Nigrospora oryzae. Myceliophagous females of this nematode reproduced by parthenogenesis and spermathecae were indistinct. Infective females, readily produced in the cultures, are dorsally curved. Only one type of males containing small-sized sperms in their genital tracts were produced in the culture. Myceliophagous females: L = 0.75 to 1.71 mm, a = 32.3 to 50.8, b = 9.3 to 11.2, b’ = 5.2 to 7.3, c = 27.2 to 35.6, V = 91.0 to 93.3, c’ = 2.0 to 2.9, stylet = 11 to 12 µm, excretory pore in the region of median pharyngeal bulb, 43 to 47 µm anterior to hemizonid. Deladenus processus n. sp., isolated from bark of healthy A. lebbeck tree, was cultured on Alternaria alternata. Myceliophagous females reproduced by amphimixis and their spermathecae contained rounded sperms. Infective females were never produced, even in old cultures. Myceliophagous females: L = 0.76 to 0.99 mm, a = 34 to 49, b = 13.3 to 17.7, b’ = 3.8 to 5.8, c = 19.6 to 22.8, V = 92.2 to 93.5, c’ = 2.7 to 3.5, stylet = 6 to 7 µm, excretory pore in the proximity of hemizonid, tail conoid, tapering from both sides to a long pointed central process. It is proposed to classify Deladenus species in three groups: durus, siricidicola, and laricis groups based on female and spermatogonia dimorphism, mode of reproduction, and insect parasitism. PMID:25861116

  16. Prevalence of Dirofilaria immitis (Nematoda: Filarioidea) in mosquitoes from northeast Arkansas, the United States.

    Science.gov (United States)

    Mckay, Tanja; Bianco, T; Rhodes, L; Barnett, S

    2013-07-01

    A mosquito survey was conducted to identify which species of mosquitoes carry Dirofilaria immitis (Leidy) (Nematoda: Filarioidea), dog heartworm, in northeast Arkansas. Using polymerase chain reaction, mosquitoes were analyzed for D. immitis, Dirofilaria repens Railliet & Henry, and Acanthocheilonema dracunculoides Cobbold. Mosquitoes were collected from April to October 2009 using black light ultraviolet traps baited with dry ice. Sixteen mosquito species were identified. D. immitis was identified in nine mosquito species, which included Aedes vexans (Meigen), Anopheles quadrimaculatus Say, Anopheles punctipennis (Say), Culex pipiens quinquefasciatus Say, Culex erraticus (Dyer & Knab), Culiseta inornata (Williston), Psorophora columbiae (Dyer & Knab), Psorophora ferox (Humboldt), and Psorophora howardii Coquillett. No D. repens or A. dracunculoides DNA was amplified. Of the 1,212 mosquito pools tested, 7.3% were positive for D. immitis. Frequency of D. immitis infections from six collection sites ranged from 2.1 to 19.4%. Ae. vexans and An. quadrimaculatus were the two most abundant species, composing 58.7 and 23.7% of the total mosquitoes collected, with 9.6 and 6.9% of pools positive for D. immitis, respectively. To investigate localized vector infection rates of D. immitis, mosquitoes were collected from inside the kennel of a heartworm-positive dog. Of the 114 mosquitoes collected, 84 (73.7%) were positive for D. immitis. The frequency of D. immitis-infected mosquitoes collected near a heartworm-positive dog was considerably higher than in the original six collection sites, suggesting a single heartworm-positive dog potentially increases infection pressure on susceptible animals sharing mosquito exposure.

  17. Atendimento multidisciplinar do paciente ortodôntico com epidermólise bolhosa Multidisciplinary management of the orthodontic patient with epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Patrícia Valéria Milanezi Alves

    2007-01-01

    Full Text Available O termo epidermólise bolhosa descreve um grupo variado de doenças hereditárias, crônicas, não inflamatórias, epiteliais e da mucosa, que são caracterizadas por excepcional fragilidade e reduzida resistência após trauma moderado. Esta doença é classificada em forma simples, juncional ou distrófica, com pelo menos 23 subtipos, e é uma doença rara que afeta toda a população, qualquer grupo racial e igualmente homens e mulheres. OBJETIVO: os autores relatam problemas sistêmicos e bucais associados à epidermólise bolhosa, norteando atitudes clínicas multidisciplinares quando o paciente necessita de tratamento ortodôntico.The term epidermolysis bullosa describes a varied group of hereditary, chronic, non-inflammatory diseases of the skin and mucosa, which are characterized by remarkable skin fragility and reduced resistance after moderate trauma. This disease is classified as simple, junctional or dystrophic form, with at least 23 subtypes, and is a rare disease found in all populations and racial groups, equally affecting males and females. AIM: the authors reports systemic and oral problems associated with epidermolysis bullosa, guiding the multidisciplinary clinical attitudes when the patient needs orthodontic treatment.

  18. A cross sectional, observational survey to assess levels and predictors of psychological wellbeing in adults with epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Emma Dures

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB describes a cluster of genetically determined skin disorders. Symptoms can be painful, disabling and disfiguring, yet there is little research on the psychological impact of the disease. The study aim was to measure psychological wellbeing in adults with EB; and to examine the association between psychological wellbeing and self efficacy, health locus of control and adjustment to appearance in an observational, cross sectional survey. Questionnaire packs comprising the General Health Questionnaire (GHQ-12, the General Self Efficacy Scale (GSE, the Multidimensional Health Locus of Control Scale (MHLOC, and the Derriford Appearance Scale (DAS-24, were sent to approximately 385 adults with EB. The data were analysed using SPSS. Eighty-seven participants responded. Scores on the GHQ-12 showed non-problematic psychological health in 36% of the sample; levels bordering on clinical disorder in 32.1% and severe psychological distress in 31.9%. No correlations were found between demographic factors (age and sex or clinical factors (EB type and perceived severity and psychological well-being. Scores on the GSE, the internal locus of control sub-scale of the MHLOC and the DAS-24 showed them to be statistically significant correlates of psychological wellbeing (P<0.001; P<0.018; and P<0.001 respectively. In a regression analysis, adjustment to appearance and self efficacy accounted for 24% of the variation in psychological wellbeing. Adults with EB might be at risk of experiencing poor psychological health. Interventions designed to enhance disease self management, self efficacy and improve body image are likely to be beneficial in this clinical group.

  19. The need of social support, life attitudes and life satisfaction among parents of children suffering from epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Dorota Mącik

    2015-06-01

    Full Text Available Introduction. Epidermolysis bullosa (EB is a group of rare genetic skin disorders. Much is known about the disease from the medical perspective, but there are still only a few studies about the psychological condition of the patient or his family. The birth of a child with EB may become a trauma for the parents. Parents’ feelings also vary depending on the type of EB. Objective. The main aim of the study was to determine whether, and in what way, having a child suffering from EB influences parents’ life and psychological well-being. Due to this aim, life satisfaction, life attitudes and the need for social support were measured. Material and methods. Twenty-one parents of ill children were studied (13 mothers, 8 fathers; 16 parents had one child with EB and 5 parents two. Six children suffered from EB simplex, 1 child from junctional EB and 14 from dystrophic EB. The course of the disease was mild in 9 children and severe in 12. As the control group 22 parents of healthy children were chosen. Results. The parents of ill children have a greater need for social support from family, both general, and instrumental, appraisal and emotional. The need for support from medical institutions is at a low level. In life attitudes there are also significant differences. Parents of ill children have a higher level of existential vacuum, and a lower level of life control and life purpose. Also the life satisfaction is lower. Conclusions. The results of our study indicate that a child suffering from EB is a heavy burden for the parents.

  20. Sensitivity of different assays for the serological diagnosis of epidermolysis bullosa acquisita: analysis of a cohort of 24 Italian patients.

    Science.gov (United States)

    Calabresi, V; Sinistro, A; Cozzani, E; Cerasaro, C; Lolicato, F; Muscianese, M; Parodi, A; Didona, B; Zambruno, G; Di Zenzo, G

    2014-04-01

    Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering disease characterized by tissue-bound and circulating autoantibodies to the dermal-epidermal junction. The autoantibody target is type VII collagen (Col VII) which is involved in dermal-epidermal adhesion. Diagnosis is made by clinical and histopathological findings, linear deposition of autoantibodies at the dermal-epidermal junction detected by direct immunofluorescence, and binding to the dermal side of salt-split skin by indirect immunofluorescence (IIF). However, the detection of specific anti-Col VII reactivity has an important confirmatory value. The humoral immune response in EBA sera was analysed by (i) IIF on human skin, (ii) a commercial Col VII ELISA, and (iii) immunoblotting on Col VII produced by an epithelial cell line. The aim of this study was to compare the sensitivity of different approaches for the serological diagnosis of EBA. The vast majority of EBA sera (79.2%) bound to the Col VII non-collagenous domains by a commercial ELISA, while a small proportion of patients (12.5%) exclusively reacted to the collagenous domain by immunoblotting. Of note, the autoantibodies reactivity to Col VII was more frequently detected by IB (91.7%) than by IIF (83.3%) and ELISA (79.2%). Interestingly, 2 out of 24 sera recognized Col VII epitopes undetectable in the native secreted protein but present in the context of extracellular matrix proteins, as assessed by immunomapping on Col VII-deficient skin. Our findings show that the use of multiple assays allows to improve diagnostic performance. An algorithm for efficient serological diagnosis of EBA is proposed.

  1. Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA).

    Science.gov (United States)

    Seta, Vannina; Aucouturier, Françoise; Bonnefoy, Jonathan; Le Roux-Villet, Christelle; Pendaries, Valérie; Alexandre, Marina; Grootenboer-Mignot, Sabine; Heller, Michel; Lièvre, Nicole; Laroche, Liliane; Caux, Frédéric; Titeux, Matthias; Hovnanian, Alain; Prost-Squarcioni, Catherine

    2016-06-01

    Serologic diagnosis of epidermolysis bullosa acquisita (EBA) relies on the detection of circulating autoantibodies to type VII collagen (C7). We sought to compare the diagnostic performances of a commercialized enzyme-linked immunosorbent assay (ELISA) using C7 noncollagenous (NC) domains (C7-NC1/NC2 ELISA) and indirect immunofluorescence (IIF) biochip test on NC1-C7-expressing transfected cells (IIFT), with a full-length-C7 ELISA developed in our laboratory. C7-NC1/NC2 ELISA, IIFT, and full-length-C7 ELISA were run on 77 nonselected consecutive EBA sera. C7-NC1/NC2 ELISA, IIFT, and full-length-C7 ELISA were positive, respectively, for: 30%, 27%, and 65% of the 77 sera; 43%, 32%, and 80% of 44 sera labeling the salt-split-skin (SSS) floor (F) by IIF (SSS/F(+)); 9%, 22%, and 47% of 32 SSS/F(-) sera; 28%, 28%, and 58% of classic EBA; 41%, 41%, and 82% of inflammatory EBA; and 18%, 0%, and 55% of mucous-membrane-predominant EBA. Significant differences for all sera were found between: the 2 ELISAs for the 77 sera, SSS/F(+) and SSS/F(-) sera, and IIFT versus full-length-C7 ELISA. The retrospective design was a limitation. C7-NC1/NC2 ELISA and IIFT sensitivities for serologic diagnoses of EBA were low. Full-length-C7 ELISA was significantly more sensitive and could serve as a reference test. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  2. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa

    Energy Technology Data Exchange (ETDEWEB)

    Hovnanian, A.; Hilal, L.; Goossens, M. (Hopital Henri Mondor, Creteil (France)); Blanchet-Bardon, C.; Prost, Y. de (Hopital Necker-Enfants Malades, Paris (France)); Christiano, A.M.; Uitto, J. (Thomas Jefferson Univ., Philadelphia, PA (United States))

    1994-08-01

    The generalized mutilating form of recessive dystrophic epidermolysis bullosa (i.e., the Hallopeau-Siemens type; HS-RDEB) is a life-threatening disease characterized by extreme mucocutaneous fragility associated with absent or markedly altered anchoring fibrils (AF). Recently, the authors reported linkage between HS-RDEB and the type VII collagen gene (COL7A1), which encodes the major component of AF. In this study, they investigated 52 unrelated HS-RDEB patients and 2 patients with RDEB inversa for the presence, at CpG dinucleotides, of mutations changing CGA arginine codons to premature stop codons TGA within the COL7A1 gene. Eight exons containing 10 CGA codons located in the amino-terminal domain of the COL7A1 gene were studied. Mutation analysis was performed using denaturing gradient gel electrophoresis of PCR-amplified genomic fragments. Direct sequencing of PCR-amplified products with altered electrophoretic mobility led to the characterization of three premature stop codons, each in a single COL7A1 allele, in four patients. Two patients (one affected with HS-RDEB and the other with RDEB inversa) have the same C-to-T transition at arginine codon 109. Two other HS-RDEB patients have a C-to-T transition at arginine 1213 and 1216, respectively. These nonsense mutations predict the truncation of [approximately]56%-92% of the polypeptide, including the collagenous and the noncollagenous NC-2 domains. On the basis of linkage analysis, which showed no evidence for locus heterogeneity in RDEB, it is expected that these patients are compound heterozygotes and have additional mutations on the other COL7A1 allele, leading to impaired AF formation. These results indicate that stop mutations within the COL7A1 gene can underlie both HS-RDEB and RDEB inversa, thus providing further evidence for the implication of this gene in RDEB. 46 refs., 3 figs., 1 tab.

  3. IDENTIFIKASI MOLEKULER DENGAN TEKNIK PCR-RFLP LARVA PARASIT Anisakis spp (Nematoda: Anisakidae) PADA IKAN TONGKOL (Auxis thazard) DAN KEMBUNG (Rastrelliger kanagurta) DARI PERAIRAN MAKASSAR

    OpenAIRE

    Anshary, Hilal

    2011-01-01

    Beragam spesies ikan laut dikenal sebagai inang perantara dari berbagai spesies parasit, termasuk nematoda Anisakis yang merupakan agen penyebab Anisakiasis pada manusia. Anisakiasis dapat terjadi pada manusia setelah memakan ikan mentah atau setengah matang yang terinfeksi oleh Anisakis sp. Di Indonesia, khususnya di Sulawesi Selatan, informasi tentang Infeksi Anisakis ikan sering kali diabaikan dan tidak terdokumentasi dengan baik. Oleh karena itu, penelitian ini dimulai dengan mengumpulkan...

  4. Hexamermis paranaense new species (Nematoda, Mermithidae: a parasite of Diloboderus abderus (Coleoptera, Scarabaeidae in Argentina Hexamermis paranaense sp. nov. (Nematoda, Mermithidae: parasito de Diloboderus abderus (Coleoptera, Scarabaeidae en Argentina

    Directory of Open Access Journals (Sweden)

    María Fernanda Achinelly

    2008-12-01

    Full Text Available A new species, Hexamermis paranaense n. sp. (Nematoda, Mermithidae, a parasite of larvae of Diloboderus abderus Sturm, 1826 (Coleoptera, Scarabaeidae is described and illustrated. This new species is characterized by amphids small, amphidial opening pocket-shaped, the anterior portion of the vagina muscularized and slightly protruding with a descending branch forming a loop before joining the uterus, and three rows of genital papillae: the ventrolateral divided in two rows with eight papillae in the outer row and with six papillae in the inner one; the ventral row with four pairs and one single preanal papillae, and with two pairs, a triplete, one pair, a single and one pair postanal papillae.Una nueva especie, Hexamermis paranaense sp. nov. (Nematoda, Mermithidae, parásito de larvas del gusano blanco, Diloboderus abderus Sturm, 1826 (Coleoptera, Scarabaeidae, se describe e ilustra. Esta nueva especie se caracteriza por poseer anfidos pequeños, con la apertura en forma de bolsillo, parte anterior de la vagina muscular, con una rama que desciende y forma un lazo antes de la conexión al útero, tres hileras de papilas genitales: la hilera de posición ventro-lateral dividida en dos hileras con ocho papilas en la hilera externa y con seis papilas en la interna; la hilera ventral con una papila, seguida de cuatro pares, todas en posición preanal y dos pares, interrumpidos por tres papilas, seguida de un par, una simple, y un par, todas de posición postanal.

  5. PERBANYAKAN NEMATODA ENTOMOPATOGEN (NEP PADA BERBAGAI MEDIA BUATAN ENTOMOPATHOGENIC NEMATODES (ENPS REARING ON VARIOUS ARTIFICIAL CULTURE MEDIA

    Directory of Open Access Journals (Sweden)

    Dyah Rini Indriyanti

    2015-02-01

    Full Text Available Penelitian ini bertujuan untuk mengetahui hasil perkembangbiakan nematoda entomopatogen pada berbagai media buatan. Desain penelitian menggunakan rancangan acak lengkap, tujuh perlakuan dan lima ulangan. Tujuh perlakuan media yaitu media A(tepung kedelai, B (hati ayam, C (dog food, D (campuran hati ayam dan tepung kedelai 1:1, E (campuran tepung kedelai dan dog food 1:1, F (hati ayam dan dog food 1:1 dan G (campuran tepung kedelai, hati ayam dan dog food 1:0,5:0,5. Sebanyak 1,2 x 10 JI/ml di biakkan pada setiap media rearing selama empat minggu. Populasi NEP diamati setiap minggu. Hasil menunjukkan media terbaik untuk perbanyakan NEP adalah media E (campuran tepung kedelai dan dog food dengan populasi tertinggi 3,5 x 10 3 JI/ml. media E mengandung karbohidrat 1,27%, protein 1,52% dan lipid 1,09%.

  6. New species of Cosmocercoides (Nematoda; Cosmocercidae) and other helminths in Gonocephalus liogaster (Squamata; Agamidae) from Peninsular Malaysia.

    Science.gov (United States)

    Bursey, Charles R; Goldberg, Stephen R; Grismer, Lee L

    2015-12-01

    Cosmocercoides malayensis sp. nov. (Nematoda, Cosmocercidae) from the large intestine of Gonocephalus liogaster (Squamata, Agamidae) from Peninsular Malaysia is described and illustrated. Cosmocercoides malayensis sp. nov. represents the 23rd species assigned to the genus and the 10th species from the Oriental biogeographical region. Cosmocercoides malayensis sp. nov. differs from the previously described Oriental species in number and position of rosette papillae; however, it is most similar to C. bufonis and C. rickae in that these 3 species have 6 post cloacal rosette papillae. Cosmocercoides bufonis possesses a prebulbar copular swelling, which is absent in C. malayensis; C. rickae posssesess somatic papillae, which are absent in C. malayensis. Three addtional nematode species were found, adult specimens of Meteterakis singaporensis and Orneoascaris sandoshami and larva of Physocephalus sp.

  7. Morphological variation of the corona radiata in Oesophagostomum dentatum, O-quadrispinulatum, and O-radiatum (Nematoda: Strongyloidea)

    DEFF Research Database (Denmark)

    Neuhaus, B.; Bresciani, J.; Christensen, C.M.

    1997-01-01

    The anterior end of 76 adult and of several juvenile Oesaphagostomum dentatum, of 75 adult O. quadrispinulatum, and of 70 adult O. radiatum (Strongylida, Nematoda) was investigated by scanning electron and light microscopy. Both an external and an internal ring of buccal leaves (corona radiata...... externa and interna) are present in O. dentatum and O. quadrispinulatum, whereas a single ring of buccal leaves occurs in O. radiatum. Remnants of external buccal leaves indicate that the single ring of leaves found in the latter species is homologous to the corona radiata interna of O. dentatum and O....... quadrispinulatum. The number of buccal leaves of the corona radiata varies remarkably in adults of all 3 species. There are 9-12 external leaves in O. dentatum, 9-11 external leaves in O. quadrispinulatum, and 30-40 internal leaves in O. radiatum. Nine leaves are most common in both O. dentatum and O...

  8. Codon usage patterns in Nematoda: analysis based on over 25 million codons in thirty-two species

    Science.gov (United States)

    2006-01-01

    Background Codon usage has direct utility in molecular characterization of species and is also a marker for molecular evolution. To understand codon usage within the diverse phylum Nematoda, we analyzed a total of 265,494 expressed sequence tags (ESTs) from 30 nematode species. The full genomes of Caenorhabditis elegans and C. briggsae were also examined. A total of 25,871,325 codons were analyzed and a comprehensive codon usage table for all species was generated. This is the first codon usage table available for 24 of these organisms. Results Codon usage similarity in Nematoda usually persists over the breadth of a genus but then rapidly diminishes even within each clade. Globodera, Meloidogyne, Pristionchus, and Strongyloides have the most highly derived patterns of codon usage. The major factor affecting differences in codon usage between species is the coding sequence GC content, which varies in nematodes from 32% to 51%. Coding GC content (measured as GC3) also explains much of the observed variation in the effective number of codons (R = 0.70), which is a measure of codon bias, and it even accounts for differences in amino acid frequency. Codon usage is also affected by neighboring nucleotides (N1 context). Coding GC content correlates strongly with estimated noncoding genomic GC content (R = 0.92). On examining abundant clusters in five species, candidate optimal codons were identified that may be preferred in highly expressed transcripts. Conclusion Evolutionary models indicate that total genomic GC content, probably the product of directional mutation pressure, drives codon usage rather than the converse, a conclusion that is supported by examination of nematode genomes. PMID:26271136

  9. In vitro larvicidal activity of geraniol and citronellal against Contracaecum sp (Nematoda: Anisakidae

    Directory of Open Access Journals (Sweden)

    L.A. Barros

    2009-10-01

    Full Text Available Human infection with fish parasites can result from the ingestion of incompletely cooked or raw fish, giving origin to parasitic diseases such as anisakiasis, caused by parasites of the Anisakidae family. The present study assessed the in vitro larvicidal effect of two monoterpene compounds, geraniol and citronellal, against Contracaecum sp (Nematoda: Anisakidae. Four hundred live larvae of Contracaecum sp obtained from "traíra" fish (Hoplias malabaricus, Bloch, 1974 were analyzed on 40 Petri dishes (10 larvae each with the compounds to be tested. The final concentrations tested for each compound were 250, 125, 62.5, and 31.2 µg/mL and the evaluation was carried out at five different times (2, 4, 8, 24, and 48 h. The larvicidal action of geraniol and citronellal was statistically superior (P < 0.005 to the control (1% ethanol at concentrations of 250 and 31.2 µg/mL (geraniol and 250, 125, and 62.5 μg/mL (citronellal. However, no larvicidal activity was observed at concentrations of 125 and 62.5 µg/mL for geraniol and 31.2 µg/mL for citronellal. When the larvicidal action of geraniol was compared to that of citronellal, the former was found to be statistically superior (P < 0.05 to the latter at concentrations of 250 and 31.2 μg/mL. On the other hand, citronellal was statistically superior (P < 0.005 to geraniol at concentrations of 125 and 62.5 μg/mL. The larval mortality rate in terms of time (hours was higher for geraniol with the passing of time at the 250 μg/mL concentration. At this concentration (in 48 h the best larvicidal effect was observed with 90% lethality. The larvae were considered to be dead using no motility and loss of structural integrity as parameters. The data indicate that natural terpene compounds should be more explored for antihelminthic activity and can be useful for other studies about anisakiasis treatment.

  10. Epidermólise bolhosa distrófica recessiva mitis: relato de caso clínico Recessive dystrophic epidermolysis bullosa mitis: case report

    Directory of Open Access Journals (Sweden)

    Thaiz Gava Rigoni Gürtler

    2005-10-01

    Full Text Available As epidermólises bolhosas são dermatoses bolhosas congênitas que levam à formação de bolhas espontaneamente ou após trauma. São reconhecidos três grupos de da doença, de acordo com o segundo consenso internacional: simples, juncional e distrófica. Nas formas distróficas, o defeito genético deve-se à mutação no gene COL7A1, responsável pela codificação do colágeno VII, principal constituinte das fibrilas de ancoragem, que participam na aderência da lâmina densa à derme. Os autores relatam o caso de paciente do sexo feminino, de 15 anos, apresentando ulcerações nas pernas, bolhas serosas e lesões atrófico-acastanhadas nos braços e tronco. Foram observadas distrofias ungueais e alterações dentárias, iniciadas a partir do nascimento. O exame histopatológico da bolha revelou quadro compatével com epidermólise bolhosa, que, associado aos dados clínicos, permitiram a classificação do caso na forma distrófica recessiva mitis.Epidermolysis bullosa are congenital bullous dermatoses that lead to spontaneous or post-traumatic formation of blisters. There are three recognized disease groups, according to the second international consensus: simplex, junctional and dystrophic. The genetic defect of the dystrophic forms is due to a mutation in the COL7A1 gene, which is responsible for codifying collagen VII, the main representative of anchoring fibrils, which participate in the adherence of the "lamina densa" to the dermis. The authors describe a case of a 15 year-old female patient who presented ulcers on her legs, serous blisters and atrophic scars on her arms and body. Dystrophic ungual and dental abnormalities had also been observed since her birth. Blister histopathological examination was compatible with epidermolysis bullosa, which, in association with clinical data, allowed the classification of recessive distrophic epidermolysis bullosa.

  11. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB in two French draft horse breeds

    Directory of Open Access Journals (Sweden)

    Guérin Gérard

    2003-03-01

    Full Text Available Abstract Epidermolysis bullosa (EB is a heterogeneous group of inherited diseases characterised by skin blistering and fragility. In humans, one of the most severe forms of EB known as Herlitz-junctional EB (H-JEB, is caused by mutations in the laminin 5 genes. EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB. In this study, the same mutation was found to be totally associated with the JEB phenotype in two French draft horse breeds, Trait Breton and Trait Comtois. This result provides breeders a molecular test to better manage their breeding strategies by genetic counselling.

  12. 19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody. Definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa

    DEFF Research Database (Denmark)

    Fine, J D; Horiguchi, Y; Couchman, J R

    1989-01-01

    is normally expressed in one or more forms of epidermolysis bullosa (EB) known to have structural and antigenic defects in skin basement membrane, we examined by indirect immunofluorescence 46 specimens of clinically normal skin from 43 patients representing each of the four forms of inherited EB (simplex, 15...... patients; junctional, nine patients; dominant dystrophic, seven patients; and recessive dystrophic, 15 patients). All nine junctional EB specimens revealed absent 19-DEJ-1 binding; similarly, seven of 15 and one of six recessive and dominant dystrophic EB skin specimens, respectively, showed lack...... of antibody recognition. In contrast, binding was normal in 15 of 15 EB simplex specimens and five of six dominant dystrophic EB specimens. Absent binding of 19-DEJ-1 to junctional EB skin correlates well with the localization of this antigen to the region of the midlamina lucida. Its absence in approximately...

  13. Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita - a multicenter analysis'.

    Science.gov (United States)

    Jonkman, M F; Meijer, J M; Diercks, G F H; Pas, H H

    2017-10-04

    In a recent retrospective serological study in 95 sera from epidermolysis bullosa acquisita (EBA) patients Schmidt et al. conclude that Col7A-NC1/NC2 ELISA (MBL, Japan) is superior to NC1 ELISA, Western blot and indirect immunofluorescence (IIF) on salt-split skin (SSS) with the highest sensitivity of 97.9%.1 This sensitivity is an overestimation from a biased sample, since the sera had been preselected from patients with IgG reactivity fitting EBA by at least one of the immune serological assays indirect immunofluorescence, ELISA, and Western blot. The deficiency in study design with an incorrect reference standard creates a bias in estimated test accuracy. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  14. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa

    Energy Technology Data Exchange (ETDEWEB)

    Gatalica, B.; Pulkkinen, L.; Li, K. [Thomas Jefferson Univ., Philadelphia, PA (United States)] [and others

    1997-02-01

    Generalized atrophic benign epidermolysis bullosa (GABEB) is a nonlethal variant of junctional epidermolysis bullosa (JEB). Previous findings have suggested that type XVII collagen is the candidate gene for mutations in this disease. We now have cloned the entire human type XVII collagen gene (COL17A1) and have elucidated its intron-exon organization. The gene comprises 56 distinct exons, which span {approximately}52 kb of the genome, on the long arm of chromosome 10. It encodes a polypeptide, the {alpha}1(XVII) chain, consisting of an intracellular globular domain, a transmembrane segment, and an extracellular domain that contains 15 separate collagenous subdomains, the largest consisting of 242 amino acids. We also have developed a strategy to identify mutations in COL17A1 by use of PCR amplification of genomic DNA, using primers placed on the flanking introns. The PCR products are scanned for sequence variants by heteroduplex analysis using conformation-sensitive gel electrophoresis and then are subjected to direct automated sequencing. We have identified several intragenic polymorphisms in COL17A1, as well as mutations, in both alleles, in two Finnish families with GABEB. The probands in both families showed negative immunofluorescence staining with an anti-type XVII collagen antibody. In one family, the proband was homozygous for a 5-bp deletion, 2944del5, which resulted in frameshift and a premature termination codon of translation. The proband in the other family was a compound heterozygote, with one allele containing the 2944del5 mutation and the other containing a nonsense mutation, Q1023X. These results expand the mutation database in different variants of JEB, and they attest to the functional importance of type XVII collagen as a transmembrane component of the hemidesmosomes at the dermal/epidermal junction. 48 refs., 9 figs., 3 tabs.

  15. Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care.

    Science.gov (United States)

    Hernandez-Martín, A; Aranegui, B; Escámez, M J; de Lucas, R; Vicente, A; Rodríguez-Díaz, E; Bernabeu-Wittel, J; Gonzalez-Hermosa, R; García-Patos, V; Ginarte, M; Mascaró, J M; Corredera, C; Baselga, E; Santiago, J L; Chaves, A; Román, C; Evole, M; Martin-Santiago, A; Torrelo, A; Del Río, M; Feito, M; Gonzalez-Enseñat, M A; Romero, G; Morcillo-Makow, E; Abaitua, I; García-Doval, I

    2013-12-01

    Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain. To determine the prevalence of DEB in Spain. We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology. We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA. The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north-south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care. Copyright © 2012 Elsevier España, S.L. and AEDV. All rights reserved.

  16. On Dichelyne (Cucullanellus elongatus (Tornquist, 1931 Petter, 1974: South American correlated species (Nematoda, Cucullanidae and some other helminths of micropogonias furnieri (Desmarest, 1823 (Pisces, Sciaenidae Sobre Dichelyne (Cucullanellus elongatus (Tornquist, 1931 Petter, 1974: espécies sul americanas correlatas (Nematoda, Cucullanidae e alguns outros helmintos de Micropogonias furnieri (Desmarest, 1823(Pisces, Sciaenidae

    Directory of Open Access Journals (Sweden)

    J. Júlio Vicente

    1989-09-01

    Full Text Available Dichelyne (Cucullanellus elongatus (Tomquist, 1931 Petter, 1974, from Venezuela, of which D.(C. amaurincai (Freitas, Vicente & Ibáñez, 1969 Petter, 1974 is proposed as a junior synonym, is redescribed and comments on the present status of the remaining species under the group, namely D.(C. dichelyneformes (Szidat, 1950 Petter, 1974, D.(C. rodriguesi (Pinto, Fábio & Noronha, 1970 Petter, 1974 and D.(C. travassosi (Guimarães & Cristofaro, 1974, occuring in South America are made. Dollfusentis chandleri Golvan, 1969 (Acanthocephala, Illiosentidae, Poecilancistrium caryophyllum (Diesing, 1850(Cestoidea, Otobothriidae and Callitetrarhynchus gracilis (Rudolphi, 1819(Cestoidea, Dasyrhynchidae as well as larval forms of Echinocephalus sp. (Nematoda, Gnathostomatidae and Contracaecum sp. (Nematoda, Anisakidae are also reported.Dichelyne (Cucullanellus elongatus (Tornquist, 1931 Petter, 1974, da Venezuela, da qual D.(C. amaurincai (Freitas, Vicente & Ibáñez, 1969 Petter, 1974 é proposta como sinônimo junior, é descrita, e são feitos comentários sobre a atual situação das outras espécies do mesmo grupo, ocorrendo na América do Sul, a saber: D.(C. dichelyneformes (Szidat, 1950 Petter, 1974, D.(C. rodriguesi (Pinto, Fábio & Noronha, 1971 Petter, 1974 e D.(C. travassosi (Guimarães & Cristofaro, 1974. Dollfusentis chandleri Golvan, 1969 (Acantochephala, Illiosentidae, Poecilancistrium cariophyllum (Diesing, 1850 (Cestoidea, Otobothriidae e Callitetrarhynchus gracilis (Rudolphi, 1819 (Cestoidea, Dayrhynchidae bem como formas larvares de Exhinocephalus sp. (Nematoda, Gnathostomatidae e Contracaecum sp. (Nematoda, Anisakidae são também assinaladas.

  17. Moving towards a complete molecular framework of the Nematoda: a focus on the Enoplida and early-branching clades

    Directory of Open Access Journals (Sweden)

    Lambshead P John D

    2010-11-01

    Full Text Available Abstract Background The subclass Enoplia (Phylum Nematoda is purported to be the earliest branching clade amongst all nematode taxa, yet the deep phylogeny of this important lineage remains elusive. Free-living marine species within the order Enoplida play prominent roles in marine ecosystems, but previous molecular phylogenies have provided only the briefest evolutionary insights; this study aimed to firmly resolve internal relationships within the hyper-diverse but poorly understood Enoplida. In addition, we revisited the molecular framework of the Nematoda using a rigorous phylogenetic approach in order to investigate patterns of early splits amongst the oldest lineages (Dorylaimia and Enoplia. Results Morphological identifications, nuclear gene sequences (18S and 28S rRNA, and mitochondrial gene sequences (cox1 were obtained from marine Enoplid specimens representing 37 genera. The 18S gene was used to resolve deep splits within the Enoplia and evaluate the branching order of major clades in the nematode tree; multiple phylogenetic methods and rigorous empirical tests were carried out to assess tree topologies under different parameters and combinations of taxa. Significantly increased taxon sampling within the Enoplida resulted in a well-supported, robust phylogenetic topology of this group, although the placement of certain clades was not fully resolved. Our analysis could not unequivocally confirm the earliest splits in the nematode tree, and outgroup choice significantly affected the observed branching order of the Dorylaimia and Enoplia. Both 28S and cox1 were too variable to infer deep phylogeny, but provided additional insight at lower taxonomic levels. Conclusions Analysis of internal relationships reveals that the Enoplia is split into two main clades, with groups consisting of terrestrial (Triplonchida and primarily marine fauna (Enoplida. Five independent lineages were recovered within the Enoplida, containing a mixture of marine

  18. Paracosmocercella rosettae n. gen. et n. sp. (Nematoda: Cosmocercoidea: Cosmocercidae) collected from the Japanese tree frog, Hyla japonica (Anura: Hylidae), in Japan.

    Science.gov (United States)

    Hasegawa, Hideo; Ikeda, Yatsukaho

    2007-08-01

    A new genus, Paracosmocercella (Nematoda: Cosmocercoidea: Cosmocercidae), is proposed with monotypic Paracosmocercella rosettae n. sp. from the Japanese tree frog, Hyla japonica Günther, 1859, in Oita, Kyushu Island, Japan. Paracosmocercella resembles Cosmocercella and Cosmocercoides by having 2 rows of rosette papillae without plectanes ventrally in preanal region of male, but it is readily distinguished from Cosmocercella by lacking clear vesicle supporting rosette papillae and from Cosmocercoides by lacking rosette papillae in perianal region and having large-sized eggs, which hatch in uterus.

  19. Redescription of Enterobius (Enterobius) macaci Yen, 1973 (Nematoda: Oxyuridae: Enterobiinae) based on material collected from wild Japanese macaque, Macaca fuscata (Primates: Cercopithecidae).

    Science.gov (United States)

    Hasegawa, Hideo; Sato, Hiroshi; Torii, Harumi

    2012-02-01

    Enterobius (Enterobius) macaci Yen, 1973 (Nematoda: Oxyuridae: Enterobiinae) was collected from a Japanese macaque, Macaca fuscata, in Nara and Yamaguchi Prefectures, Honshu Island, Japan, for the first time. A redescription is presented along with DNA sequence data. This pinworm is a typical member of the subgenus Enterobius and is characteristic in the spicule morphology, being readily distinguished from other congeners. Phylogenetic analyses based on 18S ribosomal RNA gene (rDNA) and mitochondrial DNA (mtDNA) Cox1 gene assign its position in the pinworm lineage adapted to the Old World primates, showing divergence before the splitting of the chimpanzee and human pinworms.

  20. Liver histopathology in the cane toad, Rhinella marina (Amphibia: Bufonidae), induced by Ortleppascaris sp. larvae (Nematoda: Ascarididae).

    Science.gov (United States)

    Silva, Jefferson P E; da Silva, Djane C B; Melo, Francisco T V; Giese, Elane G; Furtado, Adriano P; Santos, Jeannie N

    2013-04-01

    Exposure to parasites is considered to be an important factor in the development of many diseases and histopathologies which are the result of the parasite-host interaction. The present study evaluated the impact of natural infection by larvae of Ortleppascaris sp. (Nematoda: Ascaridida) in the liver of the cane toad Rhinella marina (Linnaeus, 1758). Larvae were encysted in nodules delimited by collagenous fibers and fibroblasts or freely within the hepatic parenchyma, provoking a clear response from the host. The histological examination of the liver revealed viable larvae in a number of different developmental stages, as well as cysts filled with amorphous material and cell residues and surrounded by dense fibrotic tissue. The infection of the liver by these larvae induces a significant increase in the area occupied by melanomacrophages and a reduction or deficit in the vascularization of the liver, hypertrophy of the hepatocytes, vacuolar bodies, and cytoplasmatic granules. Focal concentrations of inflammatory infiltrates were observed enclosing the unencapsulated early-stage larvae. These results indicate that infection by Ortleppascaris sp. induces severe physiological problems and histopathological lesions in the liver of R. marina .

  1. Molecular systematics of five Onchocerca species (Nematoda: Filarioidea) including the human parasite, O. volvulus, suggest sympatric speciation.

    Science.gov (United States)

    Morales-Hojas, R; Cheke, R A; Post, R J

    2006-09-01

    The genus Onchocerca (Nematoda: Filarioidea) consists of parasites of ungulate mammals with the exception of O. volvulus, which is a human parasite. The relationship between O. volvulus, O. ochengi and O. gibsoni remains unresolved. Based on morphology of the microfilariae and infective larvae, vector transmission and geographical distribution, O. ochengi and O. volvulus have been placed as sister species. Nevertheless, the cuticle morphology and chromosomal data (O. volvulus and O. gibsoni have n=4 while O. ochengi is n=5) suggest that O. gibsoni could be more closely related to O. volvulus than O. ochengi. Sequences from the 12S rRNA, 16S rRNA and ND5 mitochondrial genes have been used to reconstruct the phylogeny of five Onchocerca species including O. volvulus. Analyses with maximum likelihood and maximum parsimony showed that O. ochengi is the sister species of O. volvulus, in accordance with the classification based on morphology and geographical location. The separate specific status of the species O. gutturosa and O. lienalis was supported, although their phylogenetic relationship was not well resolved. The analyses indicated that the basal species was O. gibsoni, a South-East Asian and Australasian species, but this result was not statistically significant. The possible involvement of sympatric speciation in the evolution of this group of parasites is discussed.

  2. Tricholeiperia peruensis n. sp. (Nematoda, Molineidae del quiróptero Lophostoma silvicolum occidentalis (Phyllostomidae en Tumbes, Perú

    Directory of Open Access Journals (Sweden)

    Marina Vargas

    2008-12-01

    Full Text Available En el presente trabajo, se describe a Tricholeiperia peruensis n. sp. (Nematoda, Molineidae en base a 25 especímenes colectados del intestino de 5 murciélagos de la especie Lophostoma silvicolum occidentalis de la localidad de Angostura, distrito Pampas de Hospital, departamento de Tumbes, Perú. La nueva especie se caracteriza por la morfología de la vesícula cefálica en forma de capuchón con escotaduras, por el tamaño y forma de las espículas cuyo extremo distal de la rama externa se divide en dos, de las cuales la rama interna sufre una nueva división; por la disposición de las costillas de la bolsa copulatríz donde, entre otros detalles, las antero y postero-ventrales están separadas y las externo-dorsales nacen cerca de la parte media del tronco dorsal y son gruesas.

  3. Distribution of Thelastomatoid Nematodes (Nematoda: Oxyurida) in Endemic and Introduced Cockroaches on the Galápagos Island Archipelago, Ecuador.

    Science.gov (United States)

    Sinnott, Devinn; Carreno, Ramon A; Herrera, Henri

    2015-08-01

    The thelastomatoid pinworm fauna (Nematoda: Oxyurida: Thelastomatoidea) was surveyed in 3 endemic species and 6 introduced species of cockroach hosts (Insecta: Blattaria) in the Galápagos Islands, Ecuador. A total of 658 host specimens were examined from preserved collections that had been collected between 1966 and 2003 from 7 islands in the archipelago. Eight species of pinworms were identified from these cockroach hosts, including the dominant species Cephalobellus ovumglutinosus and a Severianoia sp. as well as Leidynema appendiculata, Hammerschmidtiella diesingi, an unidentified Cephalobellus species resembling Cephalobellus magalhaesi, an unidentified Protrellus species closely resembling Protrellus shamimi, and an undescribed Blattophila sp. Five new host records are identified for C. ovumglutinosus including the endemic Galápagos cockroaches Chorisoneura carpenteri, Ischnoptera snodgrassii, and Ischnoptera santacruzensis. These endemics were also infected with an undescribed Blatticola sp. Other species recorded resemble known pinworms from other hosts around the world. Prevalence between islands and between host species was variable, but total prevalence for individual pinworm species was consistently low (evolution.

  4. Additional observations on Philometra spp. (Nematoda: Philometridae) in marine fishes off Iraq, with the description of two new species.

    Science.gov (United States)

    Moravec, František; Ali, Atheer Hussain

    2014-03-01

    Based on light and electron microscopical studies, the following four species of Philometra Costa, 1845 (Nematoda: Philometridae) are described from marine fishes from off Basrah, southern Iraq (Arabian Gulf): P. brachiri n. sp. (males and females) from the ovary of the Oriental sole Brachirus orientalis (Bloch & Schneider) (Pleuronectiformes; Soleidae), P. piscaria Moravec & Justine, 2014 (female) from the ovary of the orange-spotted grouper Epinephelus coioides (Hamilton) (Perciformes: Serranidae), P. otolithi Moravec & Manoharan, 2013 (male and females) from the ovary of the tigerteeth croaker Otolithes ruber (Bloch & Schneider) (Perciformes: Sciaenidae) and P. tricornuta n. sp. (female) from the musculature of the caudal peduncle of the greater lizardfish Saurida tumbil (Bloch) (Aulopiformes: Synodontidae). Philometra brachiri is mainly characterised by the structure of the distal tip of the gubernaculum and the length of the spicules (132-135 μm) in male. Philometra tricornuta is distinguished by the presence of three large sclerotised oesophageal teeth and two tandem bulbous inflations at the anterior end of oesophagus in female. The female of P. piscaria is described for the first time. Philometra brachiri is the first species of this genus described from a fish belonging to the family Soleidae. The findings of P. piscaria and P. otolithi in Iraqi marine waters represent new geographical records.

  5. Description of a new species of Heligmosomoides (Nematoda: Heligmosomidae parasitic in Microtus limnophilus (Rodentia: Cricetidae from Rangtang, Sichuan, China

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    Massoni J.

    2010-03-01

    Full Text Available Heligmosomoides craigi n. sp. (Nematoda: Heligmosomoidea is described from Microtus limnophilus Büchner, 1889 (Rodentia: Cricetidae from Rangtang, Sichuan, China. It is related to H. protobullosus Asakawa, 1987 and H. longispiculum Tokobaev & Erkulov, 1966 both parasites of Microtus spp. from Japan and USSR, respectively by the following features: a ratio of spicule length/body length of more than 45% and rays 9 shorter than rays 10. The new species is differentiated by rays 8 being closed to rays 6 and 19-22 cuticular ridges versus 14 in H. protobullosus (synlophe not described in H. longispiculum. H. longicirratus (Schulz, 1954 also a parasite of Microtus sp. from the USSR is the most closely related species based on the number of cuticular ridges (20 and the ratio of spicule length/body length (48% versus 50%. There are no illustrations of this species and the female has not been described; for that reason, it is not possible to compare it accurately with our specimens.

  6. The mitochondrial genome sequence of Enterobius vermicularis (Nematoda: Oxyurida)--an idiosyncratic gene order and phylogenetic information for chromadorean nematodes.

    Science.gov (United States)

    Kang, Seokha; Sultana, Tahera; Eom, Keeseon S; Park, Yung Chul; Soonthornpong, Nathan; Nadler, Steven A; Park, Joong-Ki

    2009-01-15

    The complete mitochondrial genome sequence was determined for the human pinworm Enterobius vermicularis (Oxyurida: Nematoda) and used to infer its phylogenetic relationship to other major groups of chromadorean nematodes. The E. vermicularis genome is a 14,010-bp circular DNA molecule that encodes 36 genes (12 proteins, 22 tRNAs, and 2 rRNAs). This mtDNA genome lacks atp8, as reported for almost all other nematode species investigated. Phylogenetic analyses (maximum parsimony, maximum likelihood, neighbor joining, and Bayesian inference) of nucleotide sequences for the 12 protein-coding genes of 25 nematode species placed E. vermicularis, a representative of the order Oxyurida, as sister to the main Ascaridida+Rhabditida group. Tree topology comparisons using statistical tests rejected an alternative hypothesis favoring a closer relationship among Ascaridida, Spirurida, and Oxyurida, which has been supported from most studies based on nuclear ribosomal DNA sequences. Unlike the relatively conserved gene arrangement found for most chromadorean taxa, E. vermicularis mtDNA gene order is very unique, not sharing similarity to any other nematode species reported to date. This lack of gene order similarity may represent idiosyncratic gene rearrangements unique to this specific lineage of the oxyurids. To more fully understand the extent of gene rearrangement and its evolutionary significance within the nematode phylogenetic framework, additional mitochondrial genomes representing a greater evolutionary diversity of species must be characterized.

  7. Two new mermithidis (Nematoda: Mermithidae parasites of Simulium wolffhuegeli Roubaud and S. jujuyense (Paterson & Shannon (Diptera: Simuliidae in Argentina

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    Nora B. Camino

    1993-12-01

    Full Text Available Two new species of mermithids (Nematoda: Mermithidae, Gastromermis doloresi n. sp. a parasite of Simulium wolffhuegeli Roubaud and Hydromermis doloresi n. sp. a parasite of S. jujuyense (Paterson & Shannon from Córdoba, Argentina, are described and illustrated. G. doloresi n. sp. is characterized by having medium sized, pear-shaped and oval amphids, eight hypodermal chords all around the body, cylindrical S-shaped vagina, single long spicule 528 [mi]m, whith teh sculpture tip, three rows of genital papillae in which the middle row contains 17 pre-anal and 9 post-anal papillae, and lateral rows contain 18 papillae. Hydromermis doloresi n. sp. can be distinghished by the following: medium sized, pear-shaped amphids, eight hypodermal chords, a cylindrical, S-shaped vagina, one short curved spicule with sculpture and genital papillae in three rows. The medium ventral row of papillae has 4 double and 9 single pre-anal papillae and 3 double and 6 single port-anal papillae, lateral rows have 18 single papillae each.

  8. Manifestações otorrinolaringológicas e esofágicas da epidermólise bolhosa Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa

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    Rodrigo Santana Fantauzzi

    2008-10-01

    Full Text Available Epidermólise bolhosa (EB é um conjunto de afecções bolhosas, de caráter hereditário, com diferentes quadros clínicos e diferentes modos de transmissão genética. Os indivíduos evoluem com bolhas na pele e mucosas, que surgem espontaneamente ou após mínimos traumatismos. OBJETIVO: Descrever as manifestações otorrinolaringológicas, as complicações esofágicas relacionadas à EB e a experiência na conduta de pacientes com estenose esofágica decorrente da EB. CASUÍSTICA E MÉTODO: Estudo descritivo de 60 pacientes com EB, atendidos de 1999 a 2006, no serviço de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço do Hospital X, centro de referência para EB. RESULTADOS: Dos 60 pacientes com idade média de 14,5 anos, 28 (46,6% eram mulheres e 32 (53,4% homens. Oito (13,4% tinham o diagnóstico de EB simples, 51 (85% EB distrófica e um (1,6% caso de EB adquirida. Lábios, boca, língua e pavilhão auricular foram os locais mais acometidos (32 pacientes - 53,3%. Disfagia foi encontrada em 28 pacientes (46,6%. Após dilatação do esôfago todos apresentaram remissão do sintoma. CONCLUSÃO: EB é uma doença rara e os pacientes devem ser encaminhados para tratamento em centros de referência. Portanto, é fundamental que os médicos envolvidos com os cuidados de pacientes com EB conheçam as condutas necessárias para melhorar a qualidade do tratamento sem prejuízos adicionais.Epidermolysis bullosa (EB is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa. AIM: this paper aims to describe the otorhinolaryngological manifestations and esophageal complications related to EB, and the experience in treating patients with esophageal stenosis secondary to this disease. MATERIALS AND METHOD: this descriptive study enrolled 60 patients with EB seen from June 1999 to December 2006 at the Head and Neck Surgery

  9. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.

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    Ying Lin

    Full Text Available Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophic epidermolysis bullosa (RDEB. The diagnosis was established histopathologically and ultrastructurally. After genomic DNA extraction from the peripheral blood sample of all subjects (5 pedigree members and 136 unrelated control individuals, COL7A1 gene screening was performed by polymerase chain reaction amplification and direct DNA sequencing of the whole coding exons and flanking intronic regions. Genetic analysis of the COL7A1 gene in affected individuals revealed compound heterozygotes with identical novel mutations. The maternal mutation is a 2-bp deletion at exon 8 (c.1006_1007delCA, leading to a subsequent reading frame-shift and producing a premature termination codon located 48 amino acids downstream in exon 9 (p.Q336EfsX48, consequently resulting in the truncation of 2561 amino acids downstream. This was only present in two affected brothers, but not in the other unaffected family members. The paternal mutation is a 1-bp deletion occurring at the first base of intron 65 (c.IVS5568+1delG that deductively changes the strongly conserved GT dinucleotide at the 5' donor splice site, results in subsequent reading-through into intron 65, and creates a stop codon immediately following the amino acids encoded by exon 65 (GTAA→TAA. This is predicted to produce a truncated protein lacking of 1089 C-terminal amino acids downstream. The latter mutation was found in all family members except one of the two unaffected sisters. Both mutations were observed concurrently only in the two affected brothers. Neither mutation was discovered in 136 unrelated Chinese

  10. Effect of mini-sprinkler irrigation system on Heterorhabditis baujardi LPP7 (Nematoda: Heterorhabditidae infective juvenile Efeito do sistema de irrigação por microaspersão em juvenis infectantes de Heterorhabditis baujardi LPP7 (Nematoda: Heterorhabditidae

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    Juan Carlos Lara

    2008-01-01

    Full Text Available Entomopathogenic nematodes (EPNs are currently being used as successful biological control agents of soil-dwelling insect pests. Previous field and greenhouse studies demonstrated that application techniques and non-biotic factors (temperature and pressure have a significant effect on EPNs efficacy. The objective of this study was to evaluate the influence of an irrigation spray application system on the viability, infectivity and host search capability of Heterorhabditis baujardi LPP7 (Nematoda: Heterorhabditidae infective juveniles (IJ. Two assays were proposed. Their viability was evaluated under the microscope after the IJ passed through the irrigation system. Infectivity on Galleria mellonella larvae, and host search capability, as evidenced by larval mortality, were evaluated in containers (Experiment 1. In the field (Experiment 2, mortality of G. mellonella larvae was evaluated under different nematode concentrations (0, 100,000, 300,000 and 500,000 IJ per tree. No differences were recorded on the viability, infectivity and host search capability of the IJ in Experiment 1. In Experiment 2, differences were recorded among the different concentrations used (p Nematóides entomopatogênicos (NEPs vêm sendo usados com sucesso como agentes do controle biológico de pragas de solo. Estudos anteriores mostraram que técnicas de aplicação e fatores abióticos (temperatura e pressão afetam a eficiência dos NEPs em testes de campo e casa-de-vegetação. O objetivo deste trabalho foi avaliar a influência de condições geradas por um sistema de irrigação por microaspersão, na viabilidade, infectividade e na capacidade de busca de hospedeiros nos juvenis infectantes (JI de Heterorhabditis baujardi LPP7 (Nematoda: Heterorhabditidae. Dois experimentos foram propostos. A viabilidade dos juvenis infectantes (JI foi avaliada no microscópio imediatamente após sua passagem pelo sistema de irrigação. A infectividade e a capacidade de busca pelo

  11. A Male Patient with Humoral Hypercalcemia of Malignancy (HHM) with Leukocytosis Caused by Cutaneous Squamous Cell Carcinoma Resulting from Recessive Dystrophic Epidermolysis Bullosa

    Science.gov (United States)

    Miura, Kohji; Umegaki, Noriko; Kitaoka, Taichi; Kubota, Takuo; Namba, Noriyuki; Etani, Yuri; Hirai, Haruhiko; Kogaki, Shigetoyo; Nakajima, Shigeo; Takahashi, Yuji; Tamai, Katsuto; Katayama, Ichiro; Ozono, Keiichi

    2011-01-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disorder. Although the patients are at risk for cutaneous squamous cell carcinoma (SCC), no case of cutaneous SCC derived from RDEB with humoral hypercalcemia of malignancy (HHM) has been reported. We present the first case report of a male patient with HHM with leukocytosis caused by cutaneous SCC resulting from RDEB. A 20-yr-old Japanese male patient with RDEB; the diagnosis was confirmed by electron microscopic examination, suffered an intractable skin ulcer and hypercalcemia and leukocytosis. PTH-rP, SCC antigen and Granulocyte colony-stimulating factor (G-CSF) levels were elevated. The histological diagnosis of the skin lesion was made well-differentiated SCC. Immunohistochemical staining showed the expression of PTH-rP in atypical tumor cells. For the control of hypercalcemia before an amputation, we used zoledronate safely and could control the serum Ca concentration in the normal range. After the amputation of his right leg including SCC, leukocytosis improved immediately and PTH-rP in blood decreased to the normal range. One month after the amputation, local recurrence of cutaneous SCC and multiple lung metastases were observed. PTH-rP increased gradually associated with hypercalcemia. Although the patient reached an unfortunate turning point about 4 mo after the amputation, we propose that zoledronate is an effective and safe treatment for HHM with cardiorenal complications. PMID:23926398

  12. Cloning of the laminin {alpha}3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa

    Energy Technology Data Exchange (ETDEWEB)

    Vidal, F.; Ortonne, J.P. [INSERM, Nice (France)]|[Hospital Pasteur, Nice (France); Galliano, M.F. [INSERM, Nice (France)] [and others

    1995-11-20

    Laminin 5 and laminin 6 are basement membrane proteins synthesized by the basal cells of stratifying squamous epithelia. Altered expression of laminin 5 has been associated with Herlitz junctional epidermolysis bullosa (H-JEB), a severe epidermal blistering disorder inherited as an autosomal recessive disease. We have isolated cDNA clones encoding the {alpha}3 chain of laminin 5 and searched for mutations in the LAMA3 gene in H-JEB patients. In one H-JEB family, an affected individual exhibited drastically reduced immunoreactivity to antibodies directed against the {alpha}3 chain of laminin 5 and an impaired expression of the corresponding mRNA transcripts. RT-PCR analysis of mRNA extracted from the proband`s keratinocytes identified a homozygous single basepair deletion in the transcripts encoding the laminin {alpha}3A and {alpha}3B isoforms. The mutation causes a frameshift and premature termination codon in both alleles of the LAMA3 gene. Inheritance of the clinical H-JEB phenotype was consistent with the segregation of the mutated allele in the family. We also report the identity of the {alpha} chains of laminin 5 and epiligrin and provide evidence that LAMA3 transcripts are distinct from the laminin 6 {alpha} chain mRNA. 35 refs., 5 figs., 1 tab.

  13. A homozygous nonsense mutation in the {alpha}3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: Prenatal exclusion in a fetus at risk

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    McGrath, J.A. [Jefferson Medical College, Philadelphia, PA (United States)]|[St. Thomas Hospital, London (United Kingdom); Ciatti, S.; Christiano, A.M. [Jefferson Medical College, Philadelphia, PA (United States)] [and others

    1995-09-01

    Mutations in the three genes (LAMA3, LAMB3, and LAMC2) that encode the three chains ({alpha}3, {Beta}3, and {gamma}2, respectively) of laminin 5, a protein involved in epidermal-dermal adhesion, have been established as the genetic basis for the inherited blistering skin disorder, Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a child with H-JEB and identified a nonsense mutation in the {alpha}3 chain gene (LAMA3) consisting of a homozygous C-to-T transition resulting in a premature termination codon (CGA {r_arrow} TGA) on both alleles. The parents were shown to be heterozygous carriers of the same mutation. Direct mutation analysis was used to perform DNA-based prenatal diagnosis from a chorionic villus biopsy at 10 weeks` gestation in a subsequent pregnancy. The fetus was predicted to be genotypically normal with respect to the LAMA3 mutation. 15 refs., 1 fig.

  14. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.

    Science.gov (United States)

    Kon, A; Nomura, K; Pulkkinen, L; Sawamura, D; Hashimoto, I; Uitto, J

    1997-11-01

    Mutations in the type VII collagen gene (COL7A1) have been shown to underlie dystrophic epidermolysis bullosa (DEB). The dominantly inherited forms of DEB have been divided into two clinical subcategories, the Pasini (DDEB-P) and the Cockayne-Touraine (DDEB-CT) variants, on the basis of the presence or absence of albopapuloid lesions. In this study, we have examined the molecular basis of DDEB in two Japanese families, one with DDEB-P and the other with DDEB-CT. Mutation detection strategy consisted of polymerase chain reaction amplification of COL7A1 from genomic DNA, followed by heteroduplex analysis and direct nucleotide sequencing. The results revealed heterozygous glycine substitution mutations, G2076D and G2034R, in these families, respectively. Thus, these two variants of DDEB are allelic, and subtle differences in the clinical presentation may reflect the precise position of the mutation along the type VII collagen molecule. Alternatively, the nature of the substituting amino acid (D versus R) may influence the clinical phenotype. This is the first demonstration of a COL7A1 mutation in DDEB-P, and brings the total number of dominant DEB variants with underlying glycine substitutions in COL7A1 to five, including the pretibial and localized variants as well as the Bart's syndrome, in addition to DDEB-P and DDEB-CT.

  15. In Vitro Analysis of Photosensitizer Accumulation for Assessment of Applicability of Fluorescence Diagnosis of Squamous Cell Carcinoma of Epidermolysis Bullosa Patients

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    Patrick Larisch

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB is a group of inherited skin disorders characterized by blistering following mechanical trauma. Chronic wounds of EB patients often lead to tumors such as squamous cell carcinoma (SCC. Early diagnosis may prevent its invasive growth—frequently the reason of premature mortality of EB-patients. Early detection of tumors is achieved by fluorescence diagnosis (FD, where photosensitizers localize selectively in tumors and fluoresce upon illumination. Excessive accumulation of photosensitizers in inflamed areas, as occasionally found at chronic wounds and tumors due to inflammatory processes, leads to false-positive results in FD. This study analyzed accumulation kinetics of the photosensitizers hypericin and endogenous protoporphyrin IX (PpIX in different skin cell lines including the three EB subtypes under normal and proinflammatory conditions (stimulated with TNF-alpha. The aim was to assess the applicability of FD of SCC in EB. All cell lines accumulate hypericin or PpIX mostly increasing with incubation time, but with different kinetics. SCC cells of recessive dystrophic EB (RDEB accumulate less hypericin or PpIX than nonmalignant RDEB cells. Nevertheless, tumor selectivity in vivo might be existent. Non-EB cell lines are more active concerning photosensitizer enrichment. Proinflammatory conditions of skin cell lines seem to have no major influence on photosensitizer accumulation.

  16. Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy.

    Science.gov (United States)

    Oktem, Ayse; Akay, Bengu Nisa; Boyvat, Ayse; Kundakci, Nihal; Erdem, Cengizhan; Bostancı, Seher; Sanli, Hatice; Kocyigit, Pelin

    2017-02-01

    Epidermolysis bullosa acquisita (EBA) is a rare subepidermal bullous disease. Long-term remission in this disease is difficult using current treatments, unlike that in patients with other autoimmune bullous diseases. We retrospectively evaluated the effectiveness and side effects of rituximab-intravenous immunoglobulin (IVIg) combination treatment in five patients with EBA resistant to conventional treatment. Rituximab (375 mg/m2) was administered for four consecutive weeks to four patients, and their treatment continued with IVIg at a dose of 2 g/kg/month. One patient received two cycles of rituximab for three consecutive weeks, IVIg in the fourth week, followed by monthly IVIg administrations as in the other patients. The total number of IVIg therapy cycles ranged from 10 to 26 (mean 19.4). Mean skin involvement, mucosal involvement, and disease severity scores decreased after a mean follow-up of 22.6 months (range, 10-28 months). In an analysis performed during months 24-28, the number of CD19-positive B cells was found to be below the normal reference range in four patients. This was a retrospective study with a limited number of patients. Rituximab-IVIg combination treatment seems to be effective and safe for treating patients with EBA resistant to conventional treatments.

  17. Anti-type VII collagen autoantibodies, detected by enzyme-linked immunosorbent assay, fluctuate in parallel with clinical severity in patients with epidermolysis bullosa acquisita.

    Science.gov (United States)

    Ito, Yoshihiro; Kasai, Hiroko; Yoshida, Tetsuya; Saleh, Marwah A; Amagai, Masayuki; Yamagami, Jun

    2013-11-01

    Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease caused by autoantibodies against type VII collagen. An enzyme-linked immunosorbent assay (ELISA) is currently available to detect autoantibodies in EBA. There have been reports suggesting generically that ELISA indices reflect EBA disease severity; however, there is, as yet, no conclusion as to whether ELISA indices fluctuate with disease activity over time in each EBA patient. This study aimed to investigate whether ELISA titers fluctuate with EBA disease activity and to validate the clinical significance of checking ELISA values in EBA by monitoring type VII collagen ELISA titers and disease severity, evaluated in terms of numbers of blisters and erosions as a clinical score, over time in three Japanese patients with EBA. All three cases in this study, which were treated successfully, showed titers of anti-type VII collagen autoantibodies detected by ELISA that fluctuated in parallel with disease activity. Especially in case 1, we could determine that the expanding erosions were not due to flare-ups of EBA because the ELISA indices stayed low, although new lesions continued to appear. In fact, control of infection and nutrition helped the lesions to become epithelialized. In conclusion, we found that repeated ELISA measurements are useful in monitoring disease activity and making decisions in EBA treatment plans. © 2013 Japanese Dermatological Association.

  18. Diagnosis and disease severity assessment of epidermolysis bullosa acquisita by ELISA for anti-type VII collagen autoantibodies: an Italian multicentre study.

    Science.gov (United States)

    Marzano, A V; Cozzani, E; Fanoni, D; De Pità, O; Vassallo, C; Berti, E; Parodi, A; Crosti, C; Cugno, M

    2013-01-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune mucocutaneous bullous disease caused by autoantibodies against type VII collagen, a component of anchoring fibrils that stabilizes dermoepidermal adherence. Type VII collagen is composed of a collagenous domain linked by the noncollagenous (NC)1 and NC2 domains.  To assess the repeatability, sensitivity and specificity of a recently developed enzyme-linked immunosorbent assay (ELISA) for detection of anti-type VII collagen autoantibodies, and to ascertain whether they may be a marker of disease activity in EBA. Using this ELISA, which was able to recognize autoantibodies against the NC1 and NC2 epitopes of type VII collagen, we tested 14 EBA sera, 30 healthy control sera and 113 disease control sera. In the EBA sera group, 12 out of the 14 samples were positive in ELISA, with autoantibody titres varying from 7·2 to 127·9UmL(-1) (cutoff value ELISA (n =14; r=0·965; P=0·0001). The intra- and interassay coefficients of variation of the ELISA method ranged from 6·3% to 18·3%.  This NC1+NC2 ELISA can be a practical assay for the diagnosis of EBA. The correlation between autoantibody titres and disease severity suggests its usefulness as a marker of disease activity in EBA However, this should be confirmed by studies on larger series of patients. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

  19. Myeloid-related proteins-8 and -14 are expressed but dispensable in the pathogenesis of experimental epidermolysis bullosa acquisita and bullous pemphigoid.

    Science.gov (United States)

    Akbarzadeh, Reza; Yu, Xinhua; Vogl, Thomas; Ludwig, Ralf J; Schmidt, Enno; Zillikens, Detlef; Petersen, Frank

    2016-03-01

    Myeloid-related protein-8 (MRP-8) and its heterodimeric partner, MRP-14 belong to the group of danger-associated molecular patterns (DAMPs) and are associated with numerous chronic human disorders. However, their functional role in autoimmunity remains largely unclear. Here, we examined the involvement of MRP-8/-14 in two difficult-to-treat autoimmune blistering diseases, epidermolysis bullosa acquisita (EBA) and bullous pemphigoid (BP). MRP-8/-14 concentrations in the sera of EBA and BP patients were quantified by ELISA. Experimental EBA and BP in mice were induced by transfer of antibodies directed against type VII or XVII collagen, respectively. Expression of MRP-8/-14 was analyzed in skin samples of these experimental mouse models. The functional role of MRP-8/-14 proteins was evaluated by the induction of experimental EBA and BP in MRP-14-deficient mice. We found serum levels of MRP-8/-14 to be elevated in both, EBA and BP patients. Furthermore, in the lesional skin of mice with experimental diseases expression of MRP-8/-14 was increased as compared to healthy controls. However, MRP-14-deficient mice were fully susceptible to experimental disease with a phenotype comparable to that of wild type controls. Although MRP-8/-14 expression is highly increased in experimental as well as human disease, these proteins do not contribute to the pathogenesis in the effector phase of EBA and BP. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  20. T and B cells target identical regions of the non-collagenous domain 1 of type VII collagen in epidermolysis bullosa acquisita.

    Science.gov (United States)

    Müller, Ralf; Dahler, Christiane; Möbs, Christian; Wenzel, Elke; Eming, Rüdiger; Messer, Gerald; Niedermeier, Andrea; Hertl, Michael

    2010-04-01

    Epidermolysis bullosa acquisita (EBA) is a severe immunobullous disease and is caused by IgG against type VII collagen (Col VII) of anchoring fibrils. In this study, utilizing ELISA and immunoblot, 13/15 EBA sera but 0/20 bullous pemphigoid sera and 0/30 healthy control sera showed IgG reactivity with distinct recombinant subregions of the non-collagenous domain 1 (NC1) of Col VII. In two EBA patients, IgG titers against Col VII-NC1 were grossly correlated to clinical disease activity. Moreover, Col VII-reactive T cells were identified in a representative EBA patient which recognized identical subdomains of Col VII-NC1. These findings strongly suggest that (1) the Col VII-NC1 ELISA is a powerful tool for making the diagnosis of EBA, (2) Col VII-specific IgG grossly relates to disease activity and (3) IgG reactivity is associated with T cell recognition of identical subdomains of Col VII-NC1. Copyright 2009 Elsevier Inc. All rights reserved.

  1. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance

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    Christiano, A.M.; McGrath, J.A.; Uitto, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Kong Chong Tan [National Skin Centre (Singapore)

    1996-04-01

    The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin and mucous membranes. DEB can be inherited in either an autosomal dominant or autosomal recessive pattern, and the spectrum of clinical severity is highly variable. The unifying diagnostic hallmark of DEB is abnormalities in the anchoring fibrils, which consist of type VII collagen, and recently, mutations in the corresponding gene, COL7A1, have been disclosed in a number of families. In this study, we report six families with glycine substitution mutations in the triple-helical region of type VII collagen. Among the six families, two demonstrated a mild phenotype, and the inheritance of the mutation was consistent with the dominantly inherited form of DEB. In the four other families, the mutation was silent in the heterozygous state but, when present in the homozygous state, or combined with a second mutation, resulted in a recessively inherited DEB phenotype. Type VII collagen is, therefore, unique among the collagen genes, in that different glycine substitutions can be either silent in heterozygous individuals or result in a dominantly inherited DEB. Inspection of the locations of the glycine substitutions along the COL7A1 polypeptide suggests that the consequences of these mutations, in terms of phenotype and pattern of inheritance, are position independent. 29 refs., 4 figs., 2 tabs.

  2. Anisakis pegreffii (Nematoda: Anisakidae products modulate oxidative stress and apoptosis-related biomarkers in human cell lines

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    Concetta Maria Messina

    2016-11-01

    Full Text Available Abstract Background In countries with elevated prevalence of zoonotic anisakiasis and high awareness of this parasitosis, a considerable number of cases that associate Anisakis sp. (Nematoda, Anisakidae and different bowel carcinomas have been described. Although neoplasia and embedded larvae were observed sharing the common site affected by chronic inflammation, no association between the nematode and malignancy were directly proved. Similarly, no data are available about the effect of secretory and excretory products of infecting larvae at the host’s cellular level, except in respect to allergenic interaction. Methods To test the mechanisms by which human non-immune cells respond to the larvae, we exposed the fibroblast cell line HS-68 to two Anisakis products (ES, excretory/secretory products; and EC, crude extract and evaluated molecular markers related to stress response, oxidative stress, inflammation and apoptosis, such as p53, HSP70, TNF-α, c-jun and c-fos, employing cell viability assay, spectrophotometry, immunoblotting and qPCR. Results Both Anisakis products led to increased production of reactive oxygen species (ROS, especially in EC-treated cells. While the ES treatment induces activation of kinases suggesting inflammation and cell proliferation (or inhibition of apoptosis, in EC-treated cells, other signaling pathways indicate the inhibition of apoptosis, marked by strong upregulation of Hsp70. Elevated induction of p53 in fibroblasts treated by both Anisakis products, suggests a significantly negative effect on the host DNA. Conclusions This study shows that in vitro cell response to Anisakis products can result in at least two different scenarios, which in both cases lead to inflammation and DNA damage. Although these preliminary results are far from proving a relationship between the parasite and cancer, they are the first to support the existence of conditions where such changes are feasible.

  3. Integrated taxonomy: traditional approach and DNA barcoding for the identification of filarioid worms and related parasites (Nematoda

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    Bandi Claudio

    2009-01-01

    Full Text Available Abstract Background We compared here the suitability and efficacy of traditional morphological approach and DNA barcoding to distinguish filarioid nematodes species (Nematoda, Spirurida. A reliable and rapid taxonomic identification of these parasites is the basis for a correct diagnosis of important and widespread parasitic diseases. The performance of DNA barcoding with different parameters was compared measuring the strength of correlation between morphological and molecular identification approaches. Molecular distance estimation was performed with two different mitochondrial markers (coxI and 12S rDNA and different combinations of data handling were compared in order to provide a stronger tool for easy identification of filarioid worms. Results DNA barcoding and morphology based identification of filarioid nematodes revealed high coherence. Despite both coxI and 12S rDNA allow to reach high-quality performances, only coxI revealed to be manageable. Both alignment algorithm, gaps treatment, and the criteria used to define the threshold value were found to affect the performance of DNA barcoding with 12S rDNA marker. Using coxI and a defined level of nucleotide divergence to delimit species boundaries, DNA barcoding can also be used to infer potential new species. Conclusion An integrated approach allows to reach a higher discrimination power. The results clearly show where DNA-based and morphological identifications are consistent, and where they are not. The coherence between DNA-based and morphological identification for almost all the species examined in our work is very strong. We propose DNA barcoding as a reliable, consistent, and democratic tool for species discrimination in routine identification of parasitic nematodes.

  4. Deep subsurface mine stalactites trap endemic fissure fluid Archaea, Bacteria and Nematoda possibly originating from ancient (inland seas.

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    Gaetan eBorgonie

    2015-08-01

    Full Text Available Stalactites (CaCO3 and salt from water seeps are frequently encountered in ceilings of mine tunnels whenever they intersect water-bearing faults or fractures. To determine whether stalactites could be mineralized traps for indigenous fracture water microorganisms, we analyzed stalactites collected from three different mines ranging in depth from 1.3 to 3.1 km. During sampling in Beatrix gold mine (1.4 km beneath the surface, central South Africa, CaCO3 stalactites growing on the mine tunnel ceiling were collected and discovered, in two cases, to contain a living obligate brackish water/marine nematode species, Monhystrella parvella. After sterilization of the outer surface, mineral layers were physically removed from the outside to the interior, the DNA extracted. Based upon 16S and 18S rRNA gene sequencing, Archaea, Bacteria and Eukarya in different combinations were detected for each layer. . Using CT scan and electron microscopy the inner structure of CaCO3 and salt stalactites were analyzed. CaCO3 stalactites show a complex pattern of lamellae carrying bacterially precipitated mineral structures. Nematoda were clearly identified between these layers confirming that bacteria and nematodes live inside the stalactites and not only in the central straw. Salt stalactites exhibit a more uniform internal structure. Surprisingly, several Bacteria showing highest sequence identities to marine Bacteria were identified. This, together with the observation that the nematode M. parvella recovered from Beatrix gold mine stalactite can only survive in a salty environment makes the origin of the deep subsurface colonization enigmatic. The possibility of a Permian origin is discussed. Our results indicate stalactites are suitable for biodiversity recovery and act as natural traps for microorganisms in the fissure water long after the water that formed the stalactite stopped flowing.

  5. Deep subsurface mine stalactites trap endemic fissure fluid Archaea, Bacteria, and Nematoda possibly originating from ancient seas.

    Science.gov (United States)

    Borgonie, Gaëtan; Linage-Alvarez, Borja; Ojo, Abidemi; Shivambu, Steven; Kuloyo, Olukayode; Cason, Errol D; Maphanga, Sihle; Vermeulen, Jan-G; Litthauer, Derek; Ralston, Colin D; Onstott, Tullis C; Sherwood-Lollar, Barbara; Van Heerden, Esta

    2015-01-01

    Stalactites (CaCO3 and salt) from water seeps are frequently encountered in ceilings of mine tunnels whenever they intersect water-bearing faults or fractures. To determine whether stalactites could be mineralized traps for indigenous fracture water microorganisms, we analyzed stalactites collected from three different mines ranging in depth from 1.3 to 3.1 km. During sampling in Beatrix gold mine (1.4 km beneath the surface), central South Africa, CaCO3 stalactites growing on the mine tunnel ceiling were collected and observed, in two cases, to contain a living obligate brackish water/marine nematode species, Monhystrella parvella. After sterilization of the outer surface, mineral layers were physically removed from the outside to the interior, and DNA extracted. Based upon 16S and 18S rRNA gene sequencing, Archaea, Bacteria, and Eukarya in different combinations were detected for each layer. Using CT scan and electron microscopy the inner structure of CaCO3 and salt stalactites were analyzed. CaCO3 stalactites show a complex pattern of lamellae carrying bacterially precipitated mineral structures. Nematoda were clearly identified between these layers confirming that bacteria and nematodes live inside the stalactites and not only in the central straw. Salt stalactites exhibit a more uniform internal structure. Surprisingly, several Bacteria showing highest sequence identities to marine species were identified. This, together with the observation that the nematode M. parvella recovered from Beatrix gold mine stalactite can only survive in a salty environment makes the origin of the deep subsurface colonization enigmatic. The possibility of a Permian origin of fracture fluids is discussed. Our results indicate stalactites are suitable for biodiversity recovery and act as natural traps for microorganisms in the fissure water long after the water that formed the stalactite stopped flowing.

  6. Two new sibling species of Procamallanus (Spirocamallanus) (Nematoda: Camallanidae) from marine fishes in the Gulf of Thailand.

    Science.gov (United States)

    Yooyen, Thanapon; Moravec, František; Wongsawad, Chalobol

    2011-10-01

    Based on light and scanning electron microscopical examinations, 2 new morphologically similar species of the subgenus Procamallanus (Spirocamallanus) (Nematoda: Camallanidae) possessing 2 caudal spikes are described from the intestine of marine perciform fishes from the Gulf of Thailand off the Thai coast, i.e., Procamallanus (S.) rigbyi n. sp. from Otolithes ruber (Bloch and Schneider) (Sciaenidae) and Procamallanus (S.) similis n. sp. from Sillago sihama (Forsskål) (Sillaginidae). The former species is mainly characterized by the presence of 13-14 spiral ridges in the buccal capsule, location of deirids at about mid-way between the buccal capsule and the nerve ring, and by the length of the right spicule (315-360 µm), whereas the latter is characterized by 10-12 spiral ridges, deirids situated at short distance posterior to the buccal capsule, and the right spicule 435-492 µm long. Because of their inadequate descriptions, most species of this subgenus reported from marine fishes of the Indo-Pacific region are considered species inquirendae. Spirocotyle Yasmin and Bilqees, 2007 is considered a junior synonym of Procamallanus Baylis, 1923. Since Procamallanus (S.) otolithi Ashraf, Farooq and Khanum, 1977 , P. (S.) otolithi (Gupta and Garg, 1986 ) and P. (S.) otolithi (Yasmin and Bilqees, 2007 ) are junior homonyms to P. (S.) otolithi Bilqees and Kazmi, 1974, they are renamed Procamallanus (S.) pakistanensis n. nom., Procamallanus (S.) problematicus n. nom., and Procamallanus (S.) incognitus n. nom., respectively (all species inquirendae). Procamallanus rigbyi and P. similis are the first nominal species of this genus reported from marine fishes off the coast of Thailand.

  7. The Strongyloides (Nematoda) of sheep and the predominant Strongyloides of cattle form at least two different, genetically isolated populations.

    Science.gov (United States)

    Eberhardt, Alexander G; Mayer, Werner E; Bonfoh, Bassirou; Streit, Adrian

    2008-10-20

    Strongyloides sp. (Nematoda) are very wide spread small intestinal parasites of vertebrates that can form a facultative free-living generation. Most authors considered all Strongyloides of farm ruminants to belong to the same species, namely Strongyloides papillosus (Wedl, 1856). Here we show that, at least in southern Germany, the predominant Strongyloides found in cattle and the Strongyloides found in sheep belong to separate, genetically isolated populations. While we did find mixed infections in cattle, one form clearly dominated. This variety, in turn, was never found in sheep, indicating that the two forms have different host preferences. We also present molecular tools for distinguishing the two varieties, and an analysis of their phylogenetic relationship with the human parasite Strongyloides stercoralis and the major laboratory model species Strongyloides ratti. Based on our findings we propose that Strongyloides from sheep and the predominant Strongyloides from cattle should be considered separate species as it had already been proposed by [Brumpt, E., 1921. Recherches sur le determinisme des sexes et de l'evolution des Anguillules parasites (Strongyloides). Comptes rendu hebdomadaires des séances et mémoires de la Société de Biologie et de ses filiales 85, 149-152], but was largely ignored by later authors. For nomenclature, we follow [Brumpt, E., 1921. Recherches sur le determinisme des sexes et de l'evolution des Anguillules parasites (Strongyloides). Comptes rendu hebdomadaires des séances et mémoires de la Société de Biologie et de ses filiales 85, 149-152] and use the name S. papillosus for the Strongyloides of sheep and the name Strongyloides vituli for the predominant Strongyloides of cattle.

  8. Life cycle of Brugia pahangi (Nematoda) in nude mice, C3H/HeN (nu/nu).

    Science.gov (United States)

    Vincent, A L; Vickery, A C; Winters, A; Sodeman, W A

    1982-08-01

    The development of Brugia pahangi (Nematoda: Filarioidea) was studied in nude (congenitally athymic) mice C3H/HeN (nu/nu) and in their phenotypically normal littermates (nu/+). Nude mice were highly susceptible to this parasite. As in the natural host (the cat), the nematodes' third molt in nude mice occurred at 7 to 10 days. The final molt occurred at about 24 days for male worms and 33 days for female worms. Adult worms were smaller than those from other hosts, such as the cat. After inoculation of various numbers of infective larvae, recoveries of adult worms averaged about 15% of the inoculum. In long-term infections initiated with 100 larvae, about 75% of the worms localized in the heart or lungs. Patent infections were seen as early as day 50 PI. Microfilaremia developed in most nude mice given 100, 50, or 25 infective larvae, but was less frequent in those given only 10. Mean filaremias generally rose during the first 6 mo, but in individuals usually did not exceed 500-600/20 mm3 of blood. As in the Mongolian jird, intraperitoneal inoculations yielded large quantities of worms and microfilariae. Few worms could be recovered from normal mice after day 40, even when large (1,000 larvae) inocula were used. Microfilaremia was not detected in normal mice. Although recoveries of adult worms from some nude females were not as high as those from nude males, neither nude nor normal mice showed consistent evidence of a differential susceptibility based on sex. Given the strong, consistent dichotomy of response to B. pahangi between nude and normal mice, this system may be useful in studies of protective immune responses in filariasis.

  9. Anisakis pegreffii (Nematoda: Anisakidae) products modulate oxidative stress and apoptosis-related biomarkers in human cell lines.

    Science.gov (United States)

    Messina, Concetta Maria; Pizzo, Federica; Santulli, Andrea; Bušelić, Ivana; Boban, Mate; Orhanović, Stjepan; Mladineo, Ivona

    2016-11-25

    In countries with elevated prevalence of zoonotic anisakiasis and high awareness of this parasitosis, a considerable number of cases that associate Anisakis sp. (Nematoda, Anisakidae) and different bowel carcinomas have been described. Although neoplasia and embedded larvae were observed sharing the common site affected by chronic inflammation, no association between the nematode and malignancy were directly proved. Similarly, no data are available about the effect of secretory and excretory products of infecting larvae at the host's cellular level, except in respect to allergenic interaction. To test the mechanisms by which human non-immune cells respond to the larvae, we exposed the fibroblast cell line HS-68 to two Anisakis products (ES, excretory/secretory products; and EC, crude extract) and evaluated molecular markers related to stress response, oxidative stress, inflammation and apoptosis, such as p53, HSP70, TNF-α, c-jun and c-fos, employing cell viability assay, spectrophotometry, immunoblotting and qPCR. Both Anisakis products led to increased production of reactive oxygen species (ROS), especially in EC-treated cells. While the ES treatment induces activation of kinases suggesting inflammation and cell proliferation (or inhibition of apoptosis), in EC-treated cells, other signaling pathways indicate the inhibition of apoptosis, marked by strong upregulation of Hsp70. Elevated induction of p53 in fibroblasts treated by both Anisakis products, suggests a significantly negative effect on the host DNA. This study shows that in vitro cell response to Anisakis products can result in at least two different scenarios, which in both cases lead to inflammation and DNA damage. Although these preliminary results are far from proving a relationship between the parasite and cancer, they are the first to support the existence of conditions where such changes are feasible.

  10. Epidermólisis ampollosa de la unión: implicación oral. A propósito de un caso Junctional epidermolysis bullosa: oral implication. A case report

    OpenAIRE

    A. Pipa Vallejo; E. López-Arranz Monje; M. González García; J. Ortiz Mauriz; M. Pipa Muñiz

    2010-01-01

    Se entiende por epidermólisis ampollosa un grupo de dermatosis no inflamatorias, mecano ampollosas, enfermedades clínicamente similares con afectación cutáneo mucosa, que tienen carácter hereditario, en general, y que se caracterizan por una excesiva fragilidad de la piel y mucosas ante pequeños o mínimos traumas mecánicos, dando lugar a la aparición de vesículas, ampollas, erosiones y escaras. Existe una gran variabilidad fenotípica y considerable morbimortalidad.Epidermolysis bullosa is the...

  11. Electrocauterización de la membrana de Bowman para el tratamiento de la queratopatía bullosa dolorosa Electrocauterization of Bowman's membrane for the treatment of painful bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Elizabeth Escalona Leyva

    2002-12-01

    Full Text Available El propósito en este trabajo es evaluar la electrocauterización de la membrana de Bowman como alternativa quirúrgica en el tratamiento de la queratopatía bullosa dolorosa. Se estudiaron 30 ojos de 30 pacientes con diagnóstico de queratopatía bullosa dolorosa que no habían logrado mejoría con los tratamientos habituales. Se tomaron como variables fundamentales la edad, el sexo, la etiología, el tiempo de evolución, la epitelización, las complicaciones y el alivio sintomático, los datos se tabularon de forma manual teniendo en cuenta el universo de pacientes. Predominó la queratopatía bullosa posquirúrgica (afáquicas y pseudofáquicas en el 83,3 % de los pacientes. Las edades más afectadas fueron los mayores de 60 años (63,3 %; no se encontraron diferencias significativas en cuanto al sexo. El tiempo de epitelización fue de 7 a 14 días en el 93,3 % de los pacientes y solo se encontraron complicaciones en el 14 % que no fueron de gravedad. El alivio de los síntomas se produjo en el 66,6 % en la primera semana del posoperatorio. La electrocauterización de la membrana de Bowman constituye un método eficaz, sencillo y con resultados satisfactorios en el tratamiento de la queratopatía bullosa dolorosaThe purpose of this paper is to evaluate the electrocauterization of Bowman's membrane as a surgical alternative in the treatment of painful bullous keratopathy. 30 eyes from 30 patients who were diagnosed painful bullous keratopathy and had not improved with the habitual treatments were studied. Age, sex, ethiology, time of evolution, epithelialization, complications and the symptomatic relief were taken as fundamental variables. Data were manually tabulated, taking into account the number of patients. The psotsurgical bullous keratopathy (aphakic y pseudophakic prevailed in 83.3 % of the patients. The most affected were those over 60 (63.3 %. No significant differences were found in relation to sex. The time of epithelialization

  12. Current distribution of Achatina fulica, in the State of São Paulo including records of Aelurostrongylus abstrusus (Nematoda larvae infestation Distribuição atual de Achatina fulica Bowdich, 1822 no Estado de São Paulo com registro de infestação por larvas de Aelurostrongylus abstrusus (Nematoda

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    Fernanda Pires Ohlweiler

    2010-08-01

    Full Text Available The currently known distribution range of Achatina fulica Bowdich, 1822, in the state of São Paulo, Brazil, is presented. The record of A. fulica naturally infested with Aelurostrongylus abstrusus larvae (Railliet, 1898 (Nematoda: Metastrongylidae can be found in the city of Guaratinguetá. It was found A. fulica with Metastrongylidae larvae without known medical and veterinary importance in the cities of Carapicuíba, Embu-Guaçu, Itapevi, São Caetano do Sul, São Paulo and Taboão da Serra.É apresentada a distribuição de Achatina fulica Bowdich, 1822 no Estado de São Paulo, Brasil. É fornecido o registro de A. fulica naturalmente infestada por larvas de Aelurostrongylus abstrusus (Railliet, 1898 (Nematoda: Metastrongylidae no município de Guaratinguetá. Foi encontrada A. fulica portando larvas de Metastrongylidae sem importância médica e veterinária conhecida nos municípios de Carapicuíba, Embu Guaçu, Itapevi, São Caetano do Sul, São Paulo e Taboão da Serra.

  13. Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita: serration pattern analysis on skin biopsy is required for diagnosis.

    Science.gov (United States)

    Terra, J B; Jonkman, M F; Diercks, G F H; Pas, H H

    2013-07-01

    The type VII collagen (coll VII) enzyme-linked immunosorbent assay (ELISA) has been reported to have high sensitivity (> 93%) and specificity (> 96%) for diagnosing epidermolysis bullosa acquisita (EBA) in patients who are seropositive on indirect immunofluorescence on salt-split skin (SSS). To investigate the added value of the coll VII ELISA in the laboratory diagnosis of SSS-positive and SSS-negative EBA and to correlate the ELISA index with disease episode. The coll VII ELISA was performed on banked sera of 28 patients with EBA: 15 SSS positive and 13 SSS negative. Sera from healthy blood donors (n = 17) and patients with other autoimmune blistering diseases (n = 29) served as controls. In four patients, the ELISA index was measured longitudinally. Serration pattern analysis by direct immunofluorescence has been prospectively performed since 2000 in 19 patients. The sensitivity in the SSS-positive group was 80% whereas it was 23% in the SSS-negative group. In the prospective EBA subset it was 45%. The sensitivity of u-serration pattern analysis on skin biopsy was 89%. Ten (53%) of these cases were seronegative with both ELISA and SSS, and would have been missed by serum analysis alone. Of the 46 control sera, one serum tested positive (specificity 97·8%). The coll VII ELISA correlated with disease activity over time in individual patients. The coll VII ELISA has limited added value in SSS-negative EBA cases. The ELISA test is valuable in differentiating EBA from antilaminin-332 mucous membrane pemphigoid and anti-p200 pemphigoid and in its ability to monitor patients with EBA serologically. U-serration pattern analysis on immunofluorescence skin biopsy is the gold standard for the diagnosis of EBA. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

  14. Inherited epidermolysis bullosa: clinical and therapeutic aspects Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

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    Vanessa Lys Simas Yamakawa Boeira

    2013-04-01

    Full Text Available Inherited epidermolysis bullosa (EB is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be investigated. Diagnosis must be based on clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages.A epidermólise bolhosa hereditária (EBH compreende um grupo heterogêneo de desordens genéticas que têm em comum a fragilidade cutânea e, em alguns casos mucosa, predispondo ao desenvolvimento de bolhas e/ou erosões após fricção ou trauma mínimo. Crianças com história recorrente deste tipo de lesão ou neonatos que as apresentem na ausência de outra explicação plausível devem ser investigados. O diagnóstico deve se basear em achados clínicos e histopatológicos. Até o presente momento, o manejo da EBH consiste basicamente em evitar os traumas desencadeadores das lesões, bem como evitar a infecção e facilitar a cicatrização das feridas com o uso sistemático de curativos.

  15. Development of NC1 and NC2 domains of type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients.

    Science.gov (United States)

    Saleh, Marwah Adly; Ishii, Ken; Kim, Yool-Ja; Murakami, Akihiro; Ishii, Norito; Hashimoto, Takashi; Schmidt, Enno; Zillikens, Detlef; Shirakata, Yuji; Hashimoto, Koji; Kitajima, Yasuo; Amagai, Masayuki

    2011-06-01

    Epidermolysis bullosa acquisita (EBA) is an acquired autoimmune mechanobullous disease. EBA patients possess autoantibodies against type VII collagen which is composed of a collagenous domain flanked by non-collagenous NC1 and NC2 domains. It was reported that major epitopes reside within the NC1 domain and minor epitopes reside within NC2 domain. The aim of this study is to develop a sensitive and specific ELISA to facilitate the diagnosis of EBA. We developed ELISAs using recombinant NC1 domain produced by mammalian expression system and recombinant NC2 domain produced by mammalian or bacterial expression system to characterize autoantibodies in EBA. Next, we developed an ELISA using a combination of the NC1 (mammalian expression) and NC2 (bacterial expression). We tested the ELISAs with 49 EBA sera, 55 normal control sera, 20 pemphigus vulgaris and 20 bullous pemphigoid sera. When we evaluated the 49 EBA sera using the NC1 and NC2 ELISAs, 38 (77.5%) reacted with NC1 domain only, 7 sera (14.2%) reacted with both NC1 and NC2 domains, and one serum (2%) reacted with NC2 domain only. Therefore, to increase the sensitivity of the assay, we developed an ELISA coated with a mixture of recombinant NC1 and NC2 domains, resulting in 93.8% sensitivity and 98.1% specificity. By analyzing the time course of two EBA patients, ELISA scores fluctuated in parallel with their disease activity. We conclude that the NC1+NC2 ELISA can be a practical assay for the diagnosis and follow up of the antibody titers of EBA patients. Copyright © 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

  16. Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis.

    Science.gov (United States)

    Schmidt, T; Hoch, M; Lotfi Jad, S S; Solimani, F; Di Zenzo, G; Marzano, A V; Goebeler, M; Cozzani, E; Kern, J S; Sitaru, C; Lakoš Jukić, I; Sárdy, M; Uzun, S; Jedlickova, H; Gläser, R; Kaneda, M; Eming, R; Göpel, G; Ishii, N; Greene, B; Hashimoto, T; Hertl, M

    2017-07-13

    Epidermolysis bullosa acquisita (EBA) is a rare, potentially devastating autoimmune disease of the skin. IgG autoantibodies directed against type VII collagen (Col7), the major component of anchoring fibrils, induce skin fragility leading to cutaneous and mucocutaneous blister formation, which is mostly of a scarring phenotype. Thus, powerful and reproducible diagnostic assays are critical to establish the diagnosis of EBA early to avoid irreversible sequelae. The present international, retrospective multicentre study included a large cohort of patients with EBA and evaluated the diagnostic power of four different diagnostic assays for the detection of anti-Col7 IgG autoantibodies. Overall, 95 EBA sera and 200 control sera consisting of 100 bullous pemphigoid sera, 50 pemphigus vulgaris sera and 50 sera of healthy controls were tested for anti-Col7 IgG autoantibodies using indirect immunofluorescence (IIF), two commercial enzyme-linked immunosorbent assay (ELISA) systems and Western blot (WB) analysis. EBA sera were taken from patients with positive direct immunofluorescence and IgG reactivity in at least one of the immunoserological assays (IIF, ELISA, WB). A Col7-NC1/NC2 ELISA (MBL, Nagoya, Japan) showed the highest sensitivity (97·9%), followed by a Col7-NC1 ELISA (Euroimmun, Lübeck, Germany) (89·5%), WB with Col7-NC1 (85·3%), and IIF on saline-split human skin (74·7%). The specificities of both ELISA systems were comparable (NC1 98·7%, NC1/NC2 99·3%). Furthermore, WB was more sensitive than IIF, which was more specific. The two commercially available ELISA systems allow for a highly sensitive and specific diagnosis of EBA. The sensitivity of the Col7-NC1/NC2 ELISA is significantly higher compared with the ELISA based on the Col7-NC1 domain only. © 2017 British Association of Dermatologists.

  17. Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding.

    Science.gov (United States)

    Colomb, V; Bourdon-Lannoy, E; Lambe, C; Sauvat, F; Hadj Rabia, S; Teillac, D; De Prost, Y; Bodemer, C

    2012-02-01

    Generalized recessive dystrophic epidermolysis bullosa (RDEB) is often complicated by high nutritional difficulties with risks of malnutrition. To provide information regarding the benefits of enteral feeding by gastrostomy (GTF), energy and protein requirements, tolerance, growth and pubertal development in children with RDEB. Twenty-four patients were referred over a 7-year period in a retrospective study. Gastrostomy placement was decided in patients unable to feed orally and/or presenting loss in weight and height of at least 1 SD compared with their best growth level, despite regular nutritional advice. Weight and height were expressed as Z-scores. Catch-up growth following GTF onset was studied. Gastrostomies were performed in 11 children (aged 9·0±5·8years), and one young man aged 18years. The body weight Z-score was -2·3±1·0, height Z-score 1·1±1·1, weight-for-height was 81±11% and height-for-age 95± 4%. At onset, GTF provided 74±21% and 180±81% of the recommended dietary allowance (RDA) for energy and proteins, respectively. At study update (53±20months), GTF provided 91±29% and 205±100% of RDA for energy and proteins, respectively. Weight-for-height reached 92±15% and height-for-age 98±5%. A normal puberty was obtained when GT was performed before the age of 10years. Skin was not improved. Malnutrition was observed in 50% of the children with generalized RDEB. Protein and energy needs are particularly high. GTF is well tolerated and helps with catch-up growth and puberty. It must be considered before malnutrition onset, and, if necessary, before puberty. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  18. The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index.

    Science.gov (United States)

    Sampogna, F; Tabolli, S; Di Pietro, C; Castiglia, D; Zambruno, G; Abeni, D

    2013-09-01

    Severe skin diseases, such as epidermolysis bullosa (EB), may have a strong impact not only on patients but also on caregivers. A specific questionnaire evaluating the family impact of dermatological conditions has been created, the Family Dermatology Life Quality Index (FDLQI), but it has not yet been translated in Italian and validated. To evaluate the burden of recessive dystrophic EB on family caregivers, using for the first time the Italian version of the FDLQI, and to validate the instrument. Patients with recessive dystrophic EB participated in a postal survey enquiring about the burden of EB on family caregivers. They completed the Family Strain Questionnaire and the FDLQI and they marked on a silhouette of the human body the skin lesion distribution. Data on 62 family caregivers were collected. The overall mean FDLQI score was 9.8. The most frequently reported problems were the time spent on looking after the patient, emotional distress, physical well-being, and increased household expenditure. FDLQI scores were higher in family caregivers of patients between 10 and 20 years. The Italian FDLQI showed high internal consistency, construct and convergent validity. Factor analysis revealed the presence of one factor structure underlying the items of the FDLQI, which explained 51.5% of the total variance, very similar to the original questionnaire (55.8%). The Italian version of the FDLQI seems to be a useful tool to evaluate the impact of EB on family caregivers. Further studies are necessary to test this instrument in other dermatological conditions. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

  19. Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.

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    Thomas J Sproule

    2014-02-01

    Full Text Available Epidermolysis Bullosa (EB encompasses a spectrum of mechanobullous disorders caused by rare mutations that result in structural weakening of the skin and mucous membranes. While gene mutated and types of mutations present are broadly predictive of the range of disease to be expected, a remarkable amount of phenotypic variability remains unaccounted for in all but the most deleterious cases. This unexplained variance raises the possibility of genetic modifier effects. We tested this hypothesis using a mouse model that recapitulates a non-Herlitz form of junctional EB (JEB owing to the hypomorphic jeb allele of laminin gamma 2 (Lamc2. By varying normally asymptomatic background genetics, we document the potent impact of genetic modifiers on the strength of dermal-epidermal adhesion and on the clinical severity of JEB in the context of the Lamc2(jeb mutation. Through an unbiased genetic approach involving a combination of QTL mapping and positional cloning, we demonstrate that Col17a1 is a strong genetic modifier of the non-Herlitz JEB that develops in Lamc2(jeb mice. This modifier is defined by variations in 1-3 neighboring amino acids in the non-collagenous 4 domain of the collagen XVII protein. These allelic variants alter the strength of dermal-epidermal adhesion in the context of the Lamc2(jeb mutation and, consequentially, broadly impact the clinical severity of JEB. Overall the results provide an explanation for how normally innocuous allelic variants can act epistatically with a disease causing mutation to impact the severity of a rare, heritable mechanobullous disorder.

  20. Description and prevalence of Thynnascaris sp. larvae Dollfus, 1933 (Nematoda: Anisakidae) in plagioscion squamosissimus heckel, 1840 from Volta Grande Reservoir, State of Minas Gerais, Brazil.

    Science.gov (United States)

    Martins, M L; Fujimoto, R Y; Moraes, F R; Andrade, P M; Nascimento, A A; Malheiros, E B

    2000-08-01

    The present work studied helminth parasites of freshwater "corvina" Plagioscion squamosissimus from Volta Grande Reservoir, MG, Brazil. Sixty eight fishes with averages of 25.2 cm length and 180.9 g weight were collected with net, bimonthly from December 1995 thru December 1996. Parasites were carefully removed from their cysts that were present in the intestinal mesentery. Specimens were fixed in AFA 65 degrees C and preserved in alcohol 70% with 5% of glicerine. In camera lucida 21 nematodes were drawned after clarification with acetic acid or Amann lactophenol. Nematode larvae were identified as Thynnascaris sp. (Nematoda: Anisakidae). From examined fishes 30 out of 68 presented nematode larvae with a prevalence of 44.1%. The average number of parasites per host was 0.0 to 13.8 and mean intensity of 0.0 to 16.0. Statistical analysis according to Fisher's Exact Test showed that these infections were dependent on the pluviosity and air temperature.

  1. Spinitectus aguapeiensis n. sp. (Nematoda: Cystidicolidae) from Pimelodella avanhandavae Eigenmann (Siluriformes: Heptapteridae) in the River Aguapeí, Upper Paraná River Basin, Brazil.

    Science.gov (United States)

    Acosta, Aline Angelina; González-Solís, David; da Silva, Reinaldo José

    2017-07-01

    Nematodes belonging to Spinitectus Fourment, 1883 (Nematoda: Cystidicolidae) were found in the intestine of Pimelodella avanhandavae Eigenmann (Siluriformes: Heptapteridae) from the Aguapeí River, Brazil. They represent a new species, Spinitectus aguapeiensis n. sp., which differs morphologically from its congeners in the body length, the number of spinose rings, the location of the excretory pore, the number of precloacal papillae and the length of the spicules. The new species is the first South American species within the genus with a remarkably spirally coiled posterior extremity in males and the largest spicules. It is also the second species with the highest number of precloacal papillae and has unique shape of the small spicule. Spinitectus aguapeiensis n. sp. is the first helminth species found in P. avanhandavae, the fourth species of this genus recorded in the River Paraná Basin and the sixth species of Spinitectus in South America.

  2. A new species of Rhabdias Stiles et Hassall, 1905 (Nematoda: Rhabdiasidae) from Blommersia domerguei (Guibé) (Amphibia: Mantellidae) in Madagascar.

    Science.gov (United States)

    Kuzmin, Yuriy; Junker, Kerstin; du Preez, Louis; Bain, Odile

    2013-11-01

    Rhabdias blommersiae sp. n. (Nematoda: Rhabdiasidae) is described from the lungs of Domergue's Madagascar frog, Blommersia domerguei (Guibé) (Amphibia: Mantellidae), in Madagascar. The new species differs from congeners parasitizing amphibians in having a smaller body and buccal capsule, six equal lips, large excretory glands of unequal length and a posteriorly inflated body vesicle. A combination of characters distinguishes it from Afromalagasy species of Rhabdias Stiles et Hassall, 1905. Rhabdias blommersiae is the third species of the genus described from amphibians in Madagascar. Close similarities in the number and shape of circumoral structures in two Rhabdias species described from mantellid hosts in Madagascar suggest a close relationship and common origin of the two species, with subsequent adaptation to separate hosts within the Mantellidae.

  3. Digenea, Nematoda, Cestoda, and Acanthocephala, parasites in Potamotrygonidae (Chondrichthyes from the upper Paraná River floodplain, states of Paraná and Mato Grosso do Sul, Brazil.

    Directory of Open Access Journals (Sweden)

    Pavanelli, G. C.

    2008-01-01

    Full Text Available The present paper represents the first study on the endoparasitic fauna of Potamotrygon falkneri and P.motoro in the upper Paraná River floodplain. Fishes were collected by fishing rod and gillnetting in different stations ofthe floodplain, from March, 2005 to September, 2006. Parasites were sampled, fixed and preserved according tospecialized literature. About half of the analyzed fish were parasitized by at least one of the following species ofendoparasites: Clinostomum complanatum, Genarchella sp. and Tylodelphys sp. (metacercaria (Digenea;Acanthobothrium regoi, Rhinebothrium paratrygoni, Paroncomegas araya and Potamotrygonocestus travassosi(Cestoidea; Brevimulticaecum sp. (larva, Cucullanus sp., Echinocephalus sp. and Spinitectus sp. (Nematoda; andQuadrigyrus machadoi (Acanthocephala. Some species were already registered in Chondrichthyes and others werepreviously recorded in Osteichthyes from the study area. The study listed ten new records of parasites in the host P.falkneri, one new record in the host P. motoro and five new records in the locality upper Paraná River.

  4. Aspects of the life history of Muspicea borreli (Nematoda: Muspiceidae, parasite of the house mouse (Mus domesticus in Australia

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    Spratt D.M.

    2002-09-01

    Full Text Available Prevalence of Muspicea borreli (Nematoda infection in wild populations of Mus domesticus in forests in southeastern New South Wales and in rural Canberra, Australia was variable, relatively low and the parasite occurred predominantly in male mice. Experimental infection of BALB/c mice occurred only via subcutaneous inoculation but was achieved using i adults containing embryonating eggs, ii adults containing active larvae and iii active larvae dissected from the uterus of female worms. Experimental infection was not established using adults containing unembryonated eggs and was not established via intraperitoneal, percutaneous nor oral routes. Evidence indicates that larvae develop to the infective stage in the uterus of the adult worm, suggests that an obligate developmental phase on the host skin does not occur and that autoinfection is possible. Experimental infection predominated in males; females rarely became infected. When male BALB/c mice were inoculated subcutaneously with M. borreli, immediately paired with an uninoculated female and permitted to breed for 90 days, infection was found in male and female offspring only of the second and subsequent litters or in the breeding female partner. Transmission to the young occurred within 21 days of birth and fifth-stage M. borreli were found in offspring of the second and subsequent litters only after 35 or more days. However, when a male was inoculated but mating delayed for 23 days, infection was found in progeny of the first and second litters. The life cycle is direct and the prepatent period in BALB/c mice is estimated at 50-60 days. The precise mode of transmission of the parasite in breeding pairs of mice was not determined but larvae remained active for approximately an hour in balanced saline solutions (pH = 7.2 and in human saliva but died under conditions emulating free-living (tap water pH = 7.1 and stomach (pepsin solution pH = 2 environments. Transmission was not effected by

  5. Integration-free T cell-derived human induced pluripotent stem cells (iPSCs from a patient with recessive dystrophic epidermolysis bullosa (RDEB carrying two compound heterozygous mutations in the COL7A1 gene

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    Munenari Itoh

    2016-07-01

    Full Text Available Expanded human T cells from a Japanese female with recessive dystrophic epidermolysis bullosa (RDBE were used to generate integration-free induced pluripotent stem cells (iPSCs by exogenous expression of four reprogramming factors, OCT3/4, SOX2, cMYC, KLF4, using Sendai virus vector (SeVdp. The authenticity of established iPSC line, RDEB-iPSC26, was confirmed by the expressions of stem cell markers and the differentiation capability into three germ layer. RDEB-iPSC26 may be a useful cell resource for the establishment of in vitro RDEB modeling and the study for developing gene and cell therapy.

  6. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 1; referees: 2 approved, 1 approved with reservations

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    Shamsudheen Karuthedath Vellarikkal

    2016-05-01

    Full Text Available Dystrophic epidermolysis bullosa simplex (DEB is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES. Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

  7. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations

    Directory of Open Access Journals (Sweden)

    Shamsudheen Karuthedath Vellarikkal

    2016-07-01

    Full Text Available Dystrophic epidermolysis bullosa simplex (DEB is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES. Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

  8. Light and transmission electron microscopy of generalized dystrophic epidermolysis bullosa (Pasini's albopapuloid subtype Microscopia óptica e eletrônica de transmissão da epidermólise bolhosa distrófica generalizada (subtipo albo-papulóide de Pasini

    Directory of Open Access Journals (Sweden)

    Hiram Larangeira de Almeida Jr

    2012-04-01

    Full Text Available Pasini's albopapuloid epidermolysis bullosa is a very rare subtype of generalized dystrophic dominant epidermolyis bullosa. A 30 year-old white female patient presented since her childhood disseminated small blisters and papules. Light microscopy of a blister showed dermal-epidermal cleavage; moreover, focal areas of dermal-epidermal splitting were also observed. Transmission electron microscopy also identified focal areas of cleavage, which were seen below the lamina densa. It is important to recognize this condition as a variant of epidermolysis bullosa, since the most important cutaneous findings are generalized papules and not blisters and erosions as in other forms of epidermolysis bullosa.A epidermólise bolhosa albo-papulóide de Pasini é uma variante rara da forma generalizada de epidermólise bolhosa distrófica dominante. Uma paciente de 30 anos apresenta desde a infância pápulas e bolhas disseminadas. A microscopia óptica de uma bolha demonstrou clivagem dermo-epidérmica; além disso áreas focais de desprendimento dermo-epidérmico foram encontradas. A microscopia eletrônica de transmissão identificou a clivagem abaixo da lâmina densa. É importante que se reconheça essa variante de epidermólise bolhosa, já que o aspecto clínico predominante são pápulas disseminadas e não bolhas como nas outras formas de epidermólise bolhosa.

  9. Morphology of Enterobius (Colobenterobius) colobis Vuylstéke, 1964 (Nematoda: Oxyuridae: Enterobiinae) collected from an ashy red colobus, Procolobus rufomitratus tephrosceles (Elliot, 1907) (Primates: Cercopithecidae: Colobinae), in Uganda.

    Science.gov (United States)

    Hasegawa, Hideo; Greiner, Ellis C; Gillespie, Thomas R

    2008-10-01

    Enterobius (Colobenterobius) colobis Vuylstéke, 1964 (Nematoda: Oxyuridae) is redescribed based on males and females collected from an ashy red colobus, Procolobus rufomitratus tephrosceles (Elliot, 1907) (Primates: Cercopithecidae: Colobinae), in Uganda. Two morphotypes are recognized among females, which are readily distinguished by tail length, termination level of lateral alae, and egg size. The relative position of cellular wall greatly varied in the ovijector, indicating its limited systematic value. The males possess a much shorter spicule than those in previous descriptions, suggesting the presence of polymorphism.

  10. Host specificity and population structure of two exotic helminths, Camallanus cotti (Nematoda) and Bothriocephalus acheilognathi (Cestoda), parasitizing exotic fishes in Waianu Stream, O'ahu, Hawai'i.

    Science.gov (United States)

    Vincent, Amanda G; Font, William F

    2003-06-01

    Introduction of exotic fishes into Hawai'ian streams has resulted in the simultaneous introduction of exotic parasites. Camallanus corti (Nematoda) and Bothricephalus acheilognathi (Cestoda) are the most prevalent and abundant fish helminths in Hawai'ian streams. The population structure and host specificity of C. cotti and B. acheilognathi in exotic poeciliids were examined during May and June 1995 in Waianu Stream, O'ahu, Hawai'i. Prevalence and mean abundance of C. cotti were significantly different among Poecilia reticulata (65.2%, 1.05), Poecilia mexicana (49.0%, 0.87), and Xiphophorus helleri (32.3%, 0.44). Prevalence of B. acheilognathi was significantly higher in P. mexicana (6.1%) than in P. reticulata (2.1%) and X. helleri (1.6%). However, tapeworm differences in mean abundance were not significant among P. mexicana (0.08), P. reticulata (0.04), or X. helleri (0.03). Nematode and tapeworm prevalence and mean abundance were not significantly different with regard to fish sex. Camallanus cotti prevalence and mean abundance increased as P. mexicana body size increased (r2 = 0.84 and r2 = 0.72, respectively), whereas B. acheilognathi displayed no significant trend with respect to poeciliid body size.

  11. Stenurus globicephalae Baylis et Daubney, 1925 (Nematoda: Pseudaliidae from a False Killer Whale, Pseudorca crassidens (Cetacea: Delphinidae, Stranded on the Coast of Uruguay

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    Zylber María Inés

    2002-01-01

    Full Text Available Stenurus globicephalae Baylis et Daubney, 1925 (Nematoda: Pseudaliidae was found in the cranial air sinuses of a false killer whale, Pseudorca crassidens (Owen, stranded on the coast of Uruguay in 1999. Although this species has been reported once in P. crassidens from the North Atlantic, this is the first record for South America. A total of 920 specimens were obtained, of which 663 were females (body length: 4.34 ± 0.45 cm and 257 were males (2.99 ± 0.18 cm. Morphometric details are presented for S. globicephalae in this host, which do not show significant differences from those parasitizing Globicephala melas (Traill, but are distinct from those parasitizing Peponocephala electra (Gray. The host's skull revealed loss of osseous mass with the disappearance of the left zygomatic arch, and the left jaw had three osseous fenestrations in the region related to the organ of acoustic reception. These lesions support the hypothesis that this infection, known as stenurosis, was related to the stranding.

  12. Stenurus globicephalae Baylis et Daubney, 1925 (Nematoda: Pseudaliidae) from a false killer whale, Pseudorca crassidens (Cetacea: Delphinidae), stranded on the coast of Uruguay.

    Science.gov (United States)

    Zylber, María Inés; Failla, Gabriela; Le Bas, Alfredo

    2002-03-01

    Stenurus globicephalae Baylis et Daubney, 1925 (Nematoda: Pseudaliidae) was found in the cranial air sinuses of a false killer whale, Pseudorca crassidens (Owen), stranded on the coast of Uruguay in 1999. Although this species has been reported once in P. crassidens from the North Atlantic, this is the first record for South America. A total of 920 specimens were obtained, of which 663 were females (body length: 4.34 +/- 0.45 cm) and 257 were males (2.99 +/- 0.18 cm). Morphometric details are presented for S. globicephalae in this host, which do not show significant differences from those parasitizing Globicephala melas (Traill), but are distinct from those parasitizing Peponocephala electra (Gray). The host's skull revealed loss of osseous mass with the disappearance of the left zygomatic arch, and the left jaw had three osseous fenestrations in the region related to the organ of acoustic reception. These lesions support the hypothesis that this infection, known as stenurosis, was related to the stranding.

  13. Analysis of genetic variability within Thelazia callipaeda (Nematoda: Thelazioidea) from Europe and Asia by sequencing and mutation scanning of the mitochondrial cytochrome c oxidase subunit 1 gene.

    Science.gov (United States)

    Otranto, D; Testini, G; De Luca, F; Hu, M; Shamsi, S; Gasser, R B

    2005-10-01

    This study investigated genetic variability within the 'eyeworm'Thelazia callipaeda (Nematoda: Thelazioidea) from Europe and Asia by polymerase chain reaction (PCR)-coupled sequencing and mutation scanning of the mitochondrial cytochrome c oxidase subunit 1 gene (cox 1). Eight different sequence variants of cox 1 (haplotypes) were determined for the 50 individual adult specimens of T. callipaeda (from dogs, foxes or cats from Italy, Germany and the Netherlands and from dogs from China and Korea). Nucleotide variation (0.3--2%) was detected at 23 of 649 positions in the cox 1. Six of these positions were invariable among all 37 individuals from Europe and among the 13 individuals from Asia (irrespective of host origin) but differed (five GA and one CT changes) between Europe and Asia. PCR-based single-strand conformation polymorphism (SSCP) analysis of the most variable portion (v-cox 1) of the cox 1 was validated (for a subset of samples) as a tool to rapidly screen for genetic (haplotypic) variability. The results for the SSCP analysis and sequencing were concordant, indicating that the mutation scanning approach provides a useful tool for investigating the population genetics and molecular ecology of T. callipaeda.

  14. Philometrids (Nematoda: Philometridae) from fishes of Lake Turkana, Kenya, including two new species of Philometra and erection of Afrophilometra gen. n.

    Science.gov (United States)

    Moravec, Frantisek; Charo-Karisa, Harrison; Jirků, Miloslav

    2009-03-01

    The following four species (only females available) of the Philometridae (Nematoda: Dracunculoidea) were recorded from freshwater fishes of Lake Turkana, northwestern Kenya in 2007-2008: Philometra bagri (Khalil, 1965) from the subcutaneous tissue around the mouth, on gill covers and the fin base of the bayad Bagrus bajad (Forsskål) (Bagridae: Siluriformes), Philometra lati sp. n. from the abdominal cavity of the Nile perch Lates niloticus (Linnaeus) (Latidae: Perciformes), Philometra spiriformis sp. n. from capsules on the inner surface of gill covers of L. niloticus and Afrophilometra hydrocyoni (Fahmy, Mandour et El-Nafar, 1976) comb. n. from the fins of Hydrocynus forskahlii (Cuvier) (Alestidae: Characiformes). The new species P. lati is characterized mainly by the presence of distinct oesophageal teeth, absence of large cephalic lobes and caudal projections, and by a combination of other features. Philometra spiriformis differs from all congeners principally in the spirally coiled body and from individual species by a combination of other morphological features. The already known species P. bagri and A. hydrocyoni are redescribed based on light and scanning electron microscopy; findings of both these species in Kenya represent new geographical records.

  15. Two new gonad-infecting species of Philometra Costa, 1845 (Nematoda: Philometridae) from marine fishes off the northern coast of Australia.

    Science.gov (United States)

    Moravec, František; Diggles, Ben K

    2014-09-01

    Based on light and electron microscopical studies, two new gonad-infecting species of Philometra Costa, 1845 (Nematoda: Philometridae) are described from the ovary of marine perciform fishes off the northern coast of Australia (near Darwin): Philometra carangis n. sp. from the bluespotted trevally Caranx bucculentus Alleyne & Macleay (Carangidae) and P. carponotati n. sp. from the Spanish flag snapper Lutjanus carponotatus (Richardson) (Lutjanidae). Philometra carangis is mainly characterised by the length of the spicules (153-189 µm), the presence of a distinct dorsal protuberance consisting of two dorsolateral lamellar parts separated from each other by a smooth median field, a V-shaped mound on the male caudal extremity, a pair of large post-cloacal papillae and the body length of the males (3.22-4.15 mm). Philometra carponotati is distinguished from other congeneric species parasitising lutjanids by the length of the spicules and gubernaculum (225-252 and 99-117 µm, respectively), the absence of a dorsal protuberance on the distal lamellar part of the gubernaculum, the presence of a U-shaped mound on the male caudal extremity, a pair of large post-cloacal papillae and the body length of the male (3.74-4.31 mm). Besides the recently established Philometra zabidii Moravec & Diggles, 2014 (based on a single female), these two newly described nematodes are the only nominal gonad-infecting species of Philometra known to parasitise marine fishes in Australian waters.

  16. Philometra dissimilis n. sp. from the ovary of Johnius belangerii (Sciaenidae and other new records of philometrids (Nematoda: Philometridae from fishes of the Bay of Bengal, India

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    Moravec F.

    2016-06-01

    Full Text Available Based on light and scanning electron microscopical studies, a new gonad-infecting species of Philometra Costa, 1845, P. dissimilis n. sp. (Nematoda: Philometridae, is described from the marine fish (Belanger’s croaker Johnius belangerii (Cuvier (Sciaenidae, Perciformes in the Bay of Bengal, off the eastern coast of India. The species is mainly characterized by the body length of male 2.73 – 3.37 mm and that of gravid female 145 – 171 mm, needle-like, equal spicules 96 – 120 μm long, length of the gubernaculum 75 – 90 μm, distal end of the gubernaculum with lamellar structures forming a simple dorsal protuberance and by the V-shaped male caudal mound. Philometra dissimilis is the seventh known gonad-infecting species of this genus parasitizing sciaenid fishes. Moreover, an additional two species of Philometra (only females were recorded from fishes in the Bay of Bengal: P. lobotidis Moravec, Walter et Yuniar, 2012 from the abdominal cavity of Lobotis surinamensis (Bloch (Lobotidae, Perciformes, which is a new geographical record, and Philometra sp. from the ovary of Platycephalus indicus (Linnaeus (Platycephalidae, Scorpaeniformes, representing probably an undescribed species.

  17. A new species of Syncuaria Gilbert, 1927 (Nematoda: Acuarioidea: Acuariidae) in the wood stork, Mycteria americana L. (Aves: Ciconiiformes: Ciconiidae) from the Area de Conservacion Guanacaste, Costa Rica.

    Science.gov (United States)

    Zhang, Luping; Brooks, Daniel R; Causey, Douglas

    2003-10-01

    Syncuaria mycteriae n. sp. (Nematoda: Acuarioidea) was collected under the lining of the gizzard of a wood stork, Mycteria americana L., from the Area de Conservacion Guanacaste, Costa Rica. The new species can be distinguished from all known species of Syncuaria by having irregular dotted ornamentations on the caudal alae of males, a complex distal end of the left spicule comprising 3 protuberances, and a spicule ratio of 1:9.3. Preliminary phylogenetic analysis of 11 Syncuaria spp. based on 9 morphological characters produced 2 equally parsimonious cladograms with a consistency index of 85%, differing only in the placement of S. hargilae. The phylogenetic analysis suggests that the new species is the sister species of S. leptoptili, whose male members have a single protuberance on the left spicule. Furthermore, the analysis suggests that the plesiomorphic host group for the genus is Ciconiiformes, specifically Ciconiidae (host for 5 species), with 2 species occurring in Threskiornithidae (also Ciconiiformes), possibly as a result of cospeciation, and 2 species each occurring in Pelecaniformes and Podicipediformes, resulting from 4 episodes of speciation by host switching.

  18. Morphometric and phylogenetic analyses of Serpentirhabdias viperidicus n. sp. (Nematoda: Rhabdiasidae) from the lancehead snake Bothrops moojeni Hoge, 1966 (Reptilia: Serpentes: Viperidae) in Brazil.

    Science.gov (United States)

    Morais, D H; Aguiar, A; Müller, M I; Narciso, R B; da Silva, L A F; da Silva, R J

    2017-05-01

    Serpentirhabdias viperidicus n. sp. (Nematoda: Rhabdiasidae) is described from the lungs of the 'Brazilian lancehead' Bothrops moojeni (Hoge, 1966) from the savannah in São Paulo State, Brazil. The new species is the eighth species of Serpentirhabdias described in the Neotropical region, and differs from other species mainly by a combination of characters: lips slightly notable, presence of fine striations at posterior ends, presence of two parallel lines with intercalated pores, a pore-shaped phasmid situated at the level of the anal aperture and another two in the posterior half of the tail. It is the first species of Serpentirhabdias reported in this snake host and the second species of this genus found parasitizing South American viperidian snakes. Molecular phylogenetic analysis using ribosomal (ITS and 28S partial) genes confirms Serpentirhabdias viperidicus n. sp. as a new species that clustered in the Serpentirhabdias clade, sister taxon to Serpentirhabdias fuscovenosa and Serpentirhabdias elaphe. This is the first description of Serpentirhabdias species from Brazil using molecular approaches and morphological characters to confirm the monophyly of this recent genus.

  19. Dorylaimida (Nematoda) from Botswana

    African Journals Online (AJOL)

    1992-04-16

    Apr 16, 1992 ... Lips partly amalgama- ted. Labial papillae rather protruding. resulting in the lips having an angular appearance; number and arrangement of papillae typically dorylaimoid. Amphid aperture conspicu- ous in only one specimen; a wide slit, slightly less than one half the lip region width; situated at level of ...

  20. Nematoda: Haliplectidae, Suborder Leptolaimina

    African Journals Online (AJOL)

    1991-09-13

    Sep 13, 1991 ... defmes a 'slack' as a seasonally or perennially wet depres- sion between dunes and oval, irregular or linear in shape. ... mocks on the slack floor. The ground cover is sparse with a mean cover of .... A well-defmed, fibrous muscle sheath is associated with this ridge (Figure IG) and normal, well-developed ...

  1. Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy Variabilidade clínica em epidermólise bolhosa distrófica e achados de microscopia eletrônica de varredura

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    Hiram Larangeira de Almeida Jr

    2012-02-01

    Full Text Available In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg. Immunomapping of a blister demonstrated collagen IV (basal membrane in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant.Na epidermólise bolhosa distrófica, o defeito genético das fibrilas de ancoragem leva à clivagem abaixo da membrana basal com sua consequente perda. Uma paciente de 46 anos apresentava bolhas pré-tibiais associadas à distrofia ungueal. Seus dois filhos apresentavam hipo e anoníquia, afetando todas as unhas dos pododáctilos e dos primeiros, segundos e terceiros quirodáctilos. O sequenciamento de DNA identificou no exon 75 do gene COL7A1 uma mutação patológica: c.6235G>A (p.Gly2079Arg. O imunomapeamento identificou o colágeno IV no teto e colágeno VII no assoalho de uma bolha , confirmando o diagnóstico de epidermólise bolhosa distrófica. A microscopia eletrônica de varredura de um teto invertido de bolha demonstrou rede de colágeno aderida ao mesmo. A variabilidade clínica encontrada nessa família já foi escrita e confirma, que o subtipo ungueal das epidermólises bolhosas é uma forma distrófica.

  2. New tissue-dwelling species of Philometra Costa, 1845 and Philometroides Yamaguti, 1935 (Nematoda: Philometridae) from marine perciform fishes off the northern coast of Australia.

    Science.gov (United States)

    Moravec, František; Barton, Diane P

    2016-09-01

    Based on light and scanning electron microscopical studies, three new species of philometrids (Nematoda: Philometridae) are described from females collected in marine perciform fishes off the northern coast of Australia: Philometra gracilis n. sp. and Philometroides branchiarum n. sp. from tissues behind the gills and gill arches, respectively, of the John's snapper Lutjanus johnii (Bloch) (Lutjanidae), and Philometroides stomachicus n. sp. from the stomach wall of the blackspotted croaker Protonibea diacanthus (Lacépède) (Sciaenidae). Philometra gracilis differs from other congeners described from the Lutjanidae mainly in the presence of large caudal projections, short gravid females (28-42 mm long), the oesophageal gland extending anteriorly far anterior to the level of the nerve-ring, the site in the host and its geographical distribution. Philometroides branchiarum is mainly characterised by the possession of conspicuous, sclerotised oesophageal teeth and very short gravid females (6-8 mm long), whereas P. stomachicus can be differentiated by the body length of gravid females (85-90 mm), the length of the oesophagus (2.67 mm) representing 3% of the body length, the maximum width/body length ratio of gravid females (1:28-32), cuticular bosses densely distributed throughout the body but absent from the oesophageal region, the absence of oesophageal teeth and caudal projections, and the site in the host. The presence of P. gracilis and P. branchiarum in L. johnii and that of P. stomachicus in P. diacanthus confirm the possibility of the coexistence of more philometrid species in different sites within sympatric specimens of one and the same definitive host.

  3. High-pressure freezing and freeze-substitution fixation reveal the ultrastructure of immature and mature spermatozoa of the plant-parasitic nematode Trichodorus similis (Nematoda; Triplonchida; Trichodoridae).

    Science.gov (United States)

    Lak, Behnam; Yushin, Vladimir V; Slos, Dieter; Claeys, Myriam; Decraemer, Wilfrida; Bert, Wim

    2015-10-01

    The spermatozoa from testis and spermatheca of the plant-parasitic nematode Trichodorus similis Seinhorst, 1963 (Nematoda; Triplonchida; Trichodoridae) were studied with transmission electron microscopy (TEM), being the first study on spermatogenesis of a representative of the order Triplonchida and important to unravel nematode sperm evolution. Comprehensive results could only be obtained using high-pressure freezing (HPF) and freeze-substitution instead of chemical fixation, demonstrating the importance of cryo-fixation for nematode ultrastructural research. The spermatozoa from the testis (immature spermatozoa) are unpolarized cells covered by numerous filopodia. They contain a centrally-located nucleus without a nuclear envelope, surrounded by mitochondria. Specific fibrous bodies (FB) as long parallel bundles of filaments occupy the peripheral cytoplasm. No structures resembling membranous organelles (MO), as found in the sperm of many other nematodes, were observed in immature spermatozoa of T. similis. The spermatozoa from the uterus (mature or activated spermatozoa) are bipolar cells with an anterior pseudopod and posterior main cell body (MCB), which include a nucleus, mitochondria and MO appearing as large vesicles with finger-like invaginations of the outer cell membrane, or as large vesicles connected to the inner cell membrane. The peripheral MO open to the exterior via pores. In the mature sperm, neither FBs nor filopodia were observed. An important feature of T. similis spermatozoa is the late formation of MO; they first appear in mature spermatozoa. This pattern of MO formation is known for several other orders of the nematode class Enoplea: Enoplida, Mermithida, Dioctophymatida, Trichinellida but has never been observed in the class Chromadorea. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. Two gonad-infecting species of Philometra (Nematoda: Philometridae) from groupers (Serranidae) off Tunisia, with a key to Philometra species infecting serranid gonads.

    Science.gov (United States)

    Moravec, František; Chaabane, Amira; Justine, Jean-Lou; Neifar, Lassad

    2016-01-01

    Based on light and scanning electron microscopical studies of nematode specimens (males and mature females) collected from the ovary of groupers (Serranidae, Perciformes) in the Mediterranean Sea off Tunisia (near Tunis and Sfax), two gonad-infecting species of Philometra Costa, 1845 (Nematoda, Philometridae) are reported: Philometra inexpectata n. sp. from the mottled grouper Mycteroperca rubra and P. jordanoi (López-Neyra, 1951) from the dusky grouper Epinephelus marginatus. Identification of both fish species was confirmed by molecular barcoding. The new species is mainly characterized by the length of equally long spicules (147-165 μm), the gubernaculum (63-93 μm long) bearing at the tip two dorsolateral lamellar parts separated from each other by a smooth median field, a V-shaped mound on the male caudal extremity, the presence of a pair of large caudal papillae located posterior to the cloaca and by the body length of the males (1.97-2.43 mm). Philometra inexpectata n. sp. is the fifth known gonad-infecting philometrid species parasitizing serranid fishes in the Mediterranean region. The males of P. jordanoi were examined by scanning electron microscopy for the first time; this detailed study revealed some new taxonomically important morphological features, such as the number and arrangement of cephalic and caudal papillae, presence of amphids and phasmids and mainly the lamellate structures at the posterior end of the gubernaculum. A key to gonad-infecting species of Philometra parasitic in serranid fishes is provided. © F. Moravec et al., published by EDP Sciences, 2016.

  5. Two gonad-infecting species of Philometra (Nematoda: Philometridae from groupers (Serranidae off Tunisia, with a key to Philometra species infecting serranid gonads

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    Moravec František

    2016-01-01

    Full Text Available Based on light and scanning electron microscopical studies of nematode specimens (males and mature females collected from the ovary of groupers (Serranidae, Perciformes in the Mediterranean Sea off Tunisia (near Tunis and Sfax, two gonad-infecting species of Philometra Costa, 1845 (Nematoda, Philometridae are reported: Philometra inexpectata n. sp. from the mottled grouper Mycteroperca rubra and P. jordanoi (López-Neyra, 1951 from the dusky grouper Epinephelus marginatus. Identification of both fish species was confirmed by molecular barcoding. The new species is mainly characterized by the length of equally long spicules (147–165 μm, the gubernaculum (63–93 μm long bearing at the tip two dorsolateral lamellar parts separated from each other by a smooth median field, a V-shaped mound on the male caudal extremity, the presence of a pair of large caudal papillae located posterior to the cloaca and by the body length of the males (1.97–2.43 mm. Philometra inexpectata n. sp. is the fifth known gonad-infecting philometrid species parasitizing serranid fishes in the Mediterranean region. The males of P. jordanoi were examined by scanning electron microscopy for the first time; this detailed study revealed some new taxonomically important morphological features, such as the number and arrangement of cephalic and caudal papillae, presence of amphids and phasmids and mainly the lamellate structures at the posterior end of the gubernaculum. A key to gonad-infecting species of Philometra parasitic in serranid fishes is provided.

  6. The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermiolysis bullosa, map to chromosomes 1q32 and 1q25-q31

    Energy Technology Data Exchange (ETDEWEB)

    Vailly, J.; Ortonne, J.P.; Meneguzzi, G.; Szepetowski, P.; Pedeutour, F. (Faculte de Medicine, Nice (France)); Mattei, M.G. (INSERM, Marseille (France)); Burgeson, R. (Harvard Medical School, Charlestown, MA (United States))

    1994-05-01

    Expression of nicein is specifically hampered in the severe form of junctional epidermolysis bullosa (JEB), a recessive genodermatosis characterized by blister formation of integument believed to be due to defects in hemidesmosomes. Nicein genes are therefore the prime candidates for involvement in JEB. To map the gene encoding the 125-kDa subunit of nicein, the authors used the cDNA Kal5.5C coding for the amino-terminal domain of the protein. In situ hybridization was carried out on chromosomes in phytohemagglutinin-stimulated blood lymphocytes of healthy donors. In 100 metaphases examined, 153 silver grains were found associated with chromosomes; 45 (29%) of these were located on chromosome 1, and 33 (73%) of these 45 grains mapped to region 1q32.1-q41 with a maximum in band 1q32. To confirm the regional localization of the genes for nicein subunits of 100 and 125 kDa, fluorescence in situ hybridization was performed on normal lymphocytes from two unrelated normal males and fibroblast cell lines GM00257 (karyotype 46,XX, t(1;2)(1q32;2p23)) and GM004088 (46,XY,t(1;4)(q32;p16)). It was thus confirmed that the genes for nicein 125- and 100-kDa subunits are localized at 1q32 and 1q25-q31, respectively. 9 refs., 1 fig.

  7. Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions.

    Science.gov (United States)

    Kim, J H; Kim, Y H; Kim, S; Noh, E B; Kim, S-E; Vorobyev, A; Schmidt, E; Zillikens, D; Kim, S-C

    2013-02-01

    Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal bullous disease characterized by circulating autoantibodies against type VII collagen. Detecting these autoantibodies is crucial for the diagnosis of this disease, and is also useful for measuring disease activity. Enzyme-linked immunosorbent assay (ELISA), a quantitative method to measure anti-type VII collagen antibody levels, is currently available to diagnose EBA. The aim of this study was to investigate the relationship of ELISA with overall clinical severity. Sera from patients with EBA (n = 30), bullous pemphigoid (n = 20), anti-laminin γ1 pemphigoid (n = 9) and healthy donors (n = 24) were tested using ELISA, using the recombinant non-collagenous 1 (NC1) and 2 (NC2) domains of type VII collagen. Relationships between clinical characteristics, indirect immunofluoroscence (IIF) titres and ELISA values were investigated. The sensitivity and specificity of the EBA ELISA were 96.7% and 98.1%, respectively. There was no significant difference between ELISA results for classic and inflammatory types. The severity of skin involvement was positively correlated with both ELISA value (r = 0.87, P ELISA values reflect disease activity better than IIF titres. Type VII collagen ELISA using the NC1 and NC2 domains is useful for diagnosing EBA and monitoring disease severity. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

  8. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Christiano, A.M.; Uitto, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Anton-Lamprecht, I.; Ebschner, U. [Universitaet Heidelberg (Germany); Amano, S.; Burgeson, R.E. [Harvard Medical School, Charlestown, MA (United States)

    1996-04-01

    We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substitutions in the collagenous domain of COL7A1, while the most severe forms of RDEB result from premature termination codon (PTC) mutations on both alleles. In this study, we performed mutation analysis in the COL7A1 gene in twins who displayed a severe DEB phenotype. Mutational analysis revealed a paternal 2-bp deletion/1-bp insertion in exon 56, designated 5103CC{yields}G, which results in a frameshift and downstream PTC. Analysis of the maternal COL7A1 allele revealed a glycine-to-arginine substitution in exon 91 (G2351R). Careful questioning of the mother revealed that she and her father had a history of shedding of toenails and occasional poorly heating erosions, consistent with a mild form of DDEB. Immunoprecipitation of type VII collagen from fibroblasts of the twins revealed a marked reduction in intracellular protein production, consistent with the drastic reduction in mRNA transcript from the paternal mutant allele, while the majority of polypeptides bearing the glycine substitution appeared to be degraded intracellularly. Thus, the severe RDEB phenotype in the probands results from compound heterozygosity for one glycine substitution and one PTC mutation in COL7A1. 40 refs., 7 figs.

  9. Larvas de simulídeos (Diptera, Simuliidae do centro oeste, sudeste e sul do Brasil, parasitadas por microsporídeos (Protozoa e mermitídeos (Nematoda Simulids larvae (Diptera, Simuliidae from middle western, southeastern and southern Brazil, with microsporids (Protozoa and mermithids (Nematoda parasites

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    Carmen Ambrós Ginarte

    2003-09-01

    Full Text Available A survey of simulid larval parasites was carried out in different localities of the states of Mato Grosso, Minas Gerais, São Paulo, Paraná, Santa Catarina and Rio Grande do Sul, Brazil, from February 1996 to May 1998. Prevalences for the microsporidian Polydispyrenia simulii Lutz & Splendore, 1908 were found in Morungaba and Leme, São Paulo, ranging from around 0.7 to 66.7%, depending mainly on the host simulid species. Microsporidiosis was registered in localities of São Paulo, Paraná, Santa Catarina and Rio Grande do Sul. Parasitism by Isomermis sp. (Nematoda, Mermithidae was found in Simulium larvae from Serra do Japi, ranging from 0.8 to 45.8%, depending on the simulid species and the larval microhabitat in the stream, whether a cemented ramp in a lake outlet or the natural stream bed. Parasitism by mermithids was also found in ten localities. Mycoses caused by Coelomycidium sp. were for the first time recorded for larvae of Simulium (Chirostilbia pertinax Kollar, 1832.

  10. Redescription of Heligmosomoides neopolygyrus, Asakawa and Ohbayashi, 1986 (Nematoda: Heligmosomidae) from a Chinese rodent, Apodemus peninsulae (Rodentia: Muridae); with comments on Heligmosomoides polygyrus polygyrus (Dujardin, 1845) and related species in China and Japan.

    Science.gov (United States)

    Massoni, J; Durette-Desset, M C; Quéré, J P; Audebert, F

    2012-11-01

    Heligmosomoides neopolygyrus, Asakawa and Ohbayashi, 1986 (Nematoda, Heligmosomoidea) is redescribed from Apodemus peninsulae from Rangtang, Sichuan, China. A morphological review of the Heligmosomoides spp. belonging to the "polygyrus line" proposed by Asakawa (1988) is made using new characters. This enabled us to distinguish two subspecies in Mus musculus (Heligmosomoides polygyrus bakeri from Japan and H. p. polygyrus from China) and two valid species in Apodemus spp. (H. neopolygyrus from Japan (in A. peninsulae) and from China (in A. agrarius) and H. asakawae from China (in A. uralensis)). Three parasite species of A. agrarius and A. peninsulae, previously identified by Asakawa et al. (1993) as H. neopolygyrus, are considered to be Heligmosomoides incertae sedis. This is the first report of H. neopolygyrus in A. peninsulae from China.

  11. Type material of Acanthocephala, Nematoda and other non-helminths phyla (Cnidaria, Annelida, and Arthropoda) housed in the Helminthological Collection of the Oswaldo Cruz Institute/ FIOCRUZ (CHIOC), Rio de Janeiro, Brazil, from 1979 to 2016

    Science.gov (United States)

    Lopes, Daniela A.; Gomes, Delir Corrêa; Knoff, Marcelo

    2017-01-01

    Abstract The third part of the catalogue of type material in the Helminthological Collection of the Oswaldo Cruz Institute/FIOCRUZ (CHIOC), comprising types deposited between 1979 and 2016, is presented to complement the first list of all types that was published in 1979. This part encompasses Acanthocephala, Nematoda and the other non-helminth phyla Cnidaria, Annelida, and Arthropoda. Platyhelminthes was covered in the first (Monogenoidea) and second (Rhabditophora Trematoda and Cestoda) parts of the catalogue published in September 2016 and March 2017, respectively. The present catalogue comprises type material for 116 species distributed across five phyla, nine classes, 50 families, and 80 genera. Specific names are listed systematically, followed by type host, infection site, type locality, and specimens with their collection numbers and references. Species classification and nomenclature are updated. PMID:29134026

  12. Redescription of Heligmosomoides neopolygyrus, Asakawa and Ohbayashi, 1986 (Nematoda: Heligmosomidae from a Chinese Rodent, Apodemus peninsulae (Rodentia: Muridae; with comments on Heligmosomoides polygyrus polygyrus (Dujardin, 1845 and related species in China and Japan

    Directory of Open Access Journals (Sweden)

    Massoni J.

    2012-11-01

    Full Text Available Heligmosomoides neopolygyrus, Asakawa and Ohbayashi, 1986 (Nematoda, Heligmosomoidea is redescribed from Apodemus peninsulae from Rangtang, Sichuan, China. A morphological review of the Heligmosomoides spp. belonging to the “polygyrus line” proposed by Asakawa (1988 is made using new characters. This enabled us to distinguish two subspecies in Mus musculus (Heligmosomoides polygyrus bakeri from Japan and H. p. polygyrus from China and two valid species in Apodemus spp. (H. neopolygyrus from Japan [in A. peninsulae] and from China [in A. agrarius] and H. asakawae from China [in A. uralensis]. Three parasite species of A. agrarius and A. peninsulae, previously identified by Asakawa et al. (1993 as H. neopolygyrus, are considered to be Heligmosomoides incertae sedis. This is the first report of H. neopolygyrus in A. peninsulae from China.

  13. Type material of Acanthocephala, Nematoda and other non-helminths phyla (Cnidaria, Annelida, and Arthropoda housed in the Helminthological Collection of the Oswaldo Cruz Institute/ FIOCRUZ (CHIOC, Rio de Janeiro, Brazil, from 1979 to 2016

    Directory of Open Access Journals (Sweden)

    Daniela A. Lopes

    2017-10-01

    Full Text Available The third part of the catalogue of type material in the Helminthological Collection of the Oswaldo Cruz Institute/FIOCRUZ (CHIOC, comprising types deposited between 1979 and 2016, is presented to complement the first list of all types that was published in 1979. This part encompasses Acanthocephala, Nematoda and the other non-helminth phyla Cnidaria, Annelida, and Arthropoda. Platyhelminthes was covered in the first (Monogenoidea and second (Rhabditophora Trematoda and Cestoda parts of the catalogue published in September 2016 and March 2017, respectively. The present catalogue comprises type material for 116 species distributed across five phyla, nine classes, 50 families, and 80 genera. Specific names are listed systematically, followed by type host, infection site, type locality, and specimens with their collection numbers and references. Species classification and nomenclature are updated.

  14. Influence of parasitism on trace element contents in tissues of red fox (Vulpes vulpes) and its parasites Mesocestoides spp. (Cestoda) and Toxascaris leonina (Nematoda).

    Science.gov (United States)

    Jankovská, Ivana; Miholová, Daniela; Bejcek, Vladimír; Vadlejch, Jaroslav; Sulc, Miloslav; Száková, Jirina; Langrová, Iva

    2010-02-01

    Bioaccumulation of cadmium, chromium, copper, manganese, nickel, lead, and zinc in 56 foxes (Vulpes vulpes) and their parasites Mesocestoides spp. (Cestoda) and Toxascaris leonina (Nematoda) was studied. The levels of heavy metals were determined in the livers and kidneys of the animals depending on parasitism in the following ranges: Pb, 0.029-3.556; Cd, 0.055-9.967; Cr, 0.001-0.304; Cu, 4.15-41.15; Mn, 1.81-19.94; Ni: 0.037-0.831; Zn, 52.0-212.9 microg/g dry weight (dw). Cd in parasites (0.038-3.678 microg/g dw) were comparable with those in the livers of the host and lower than in the kidneys (0.095-6.032 microg/g dw). Contents of Pb, Cr, Cu, Mn, Ni, and Zn in cestodes were predominantly higher than those in the kidney and liver of the host. Median lead levels in Mesocestoides spp. (45.6 microg/g dw) were 52-fold higher than in the kidney and liver of the red fox (Vulpes vulpes) infected by both parasites and median Pb values in T. leonina (8.98 microg/g dw) were 8-fold higher than in the tissues of the parasitized red fox. Bioaccumulation factors of copper, zinc, nickel, and manganese are lower than those of lead and mostly range from 1.9 to 24 for Mesocestoides spp. and from 1.5 to 6 for nematode T. leonina depending on the tissue of host and element. A significant decrease in the content of Pb was found in the kidney of animals infected by T. leonina (0.260 microg/g dw) as well as those infected by Mesocestoides spp. (0.457 microg/g dw) in comparison with the lead content (0.878 microg/g dw) in the kidneys of the nonparasitized red fox. Regardless of a bioaccumulation of copper and manganese in the parasites, a significant increase of the concentrations of Mn and Cu was observed in the host's livers infected predominantly by Mesocestoides spp.

  15. Halophilanema prolata n. gen., n. sp. (Nematoda: Allantonematidae, a parasite of the intertidal bug, Saldula laticollis (Reuter(Hemiptera: Saldidae on the Oregon coast

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    Poinar George O

    2012-02-01

    Full Text Available Abstract Background It is rare to find terrestrial nematode lineages parasitizing arthropods inhabiting the intertidal or littoral zone of the oceans. During an ecological study along the Oregon dunes, an allantonematid nematode (Tylenchomorpha: Allantonematidae was discovered parasitizing the intertidal shore bug, Saldula laticollis (Reuter(Hemiptera: Saldidae. This shore bug is adapted to an intertidal environment and can survive short periods of submergence during high tides. The present study describes the nematode parasite and discusses aspects of its development, ecology and evolution. Methods Adults and last instar nymphs of S. laticollis (Hemiptera: Saldidae were collected from the high intertidal zone among clumps of Juncus L. (Juncaceae plants at Waldport, Oregon on October 3, 2011. The bugs were dissected in 1% saline solution and the nematodes killed in 1% Ringers solution and immediately fixed in 5% formalin (at 20°C. Third stage juveniles removed from infected hosts were maintained in 1% saline solution until they matured to the adult stage, molted and mated. Results Halophilanema prolata n. gen., n. sp. (Nematoda: Allantonematidae is described from last instar nymphs and adults of the intertidal bug, Saldula laticollis on the Oregon coast. The new genus can be distinguished from other genera in the Allantonematidae by a stylet lacking basal knobs in both sexes, an excretory pore located behind the nerve ring, ribbed spicules, a gubernaculum, the absence of a bursa and the elongate-tubular shape of the ovoviviparous parasitic females. Studies of the organogenesis of Halophilanema showed development to third stage juveniles in the uterus of parasitic females. Maturation to the free-living adults and mating occurred in the environment. The incidence of infection of S. laticollis ranged from 0% to 85% depending on the microhabitat in the intertidal zone. Conclusions Based on the habitat and morphological characters, it is proposed

  16. Nevo da epidermólise bolhosa: aspectos clínicos, dermatoscópicos e histológicos em um caso de portador da forma distrófica recessiva Epidermolysis bullosa nevi: clinical, dermatoscopical and histological features in a case of recessive dystrofic form

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    Juliana Nakano de Melo

    2011-08-01

    Full Text Available As lesões melanocíticas adquiridas podem apresentar aspecto clínico não-usual em pacientes portadores de epidermólise bolhosa hereditária. Essas lesões são conhecidas como "nevos EB" e, muitas vezes, constituem um desafio diagnóstico ao dermatologista por apresentarem características clínicas, dermatoscópicas e histopatológicas semelhantes às encontradas no melanoma. Não são exclusivas de nenhuma forma de epidermólise bolhosa e têm sua frequência aumentada na infância. Relata-se o caso de um doente do sexo masculino, de 6 meses de idade, portador da forma distrófica recessiva da doença, com lesão pigmentada de rápido crescimento na coxa esquerda. Optou-se por seguimento clínico da lesão, considerando que os aspectos clínicos, dermatoscópicos e histológicos eram compatíveis com a descrição de outros casos de nevo EB previamente descritosAcquired melanocytic lesions may present unusual clinical features in all forms of hereditary epidermolysis bullosa. These lesions are known as "EB nevi", and often pose a diagnostic challenge for dermatologists given their resemblance - clinically, dermoscopically and histologically - to melanoma. The lesions have been reported in all types of hereditary EB, most of them in childhood. We report the case of a 6-month-old boy suffering from recessive dystrophic epidermolysis bullosa (RDEB that presented as a large pigmented lesion on his left thigh. We decided to monitor the lesion closely since we considered that the clinical and pathological aspects of the lesion were compatible with the description of other previously reported cases of EB nevi

  17. Utilização da amostragem seqüencial para avaliar a eficiência do parasitismo de Deladenus (Beddingia siricidicola (Nematoda: Neotylenchidae em adultos de Sirex noctilio (Hymenoptera: Siricidae.

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    Susete do Rocio Chiarello Penteado

    2009-10-01

    Full Text Available Normal 0 21 MicrosoftInternetExplorer4 O nematóide Deladenus (Beddingia siricidicola (Nematoda: Neotylenchidae é o principal agente de controle de Sirex noctilio (Hymenoptera: Siricidae, vespa-da-madeira. ao esterilizar as fêmeas do inseto, atinge níveis de parasitismo próximos a 100%, com média de 70%. o monitoramento da eficiência do nematóide tem sido realizado pela avaliação da sua presença no aparelho reprodutor de machos e fêmeas do inseto. porém, esse processo é exaustivo e antieconômico quando aplicado a amostras muito grandes. o objetivo desta pesquisa foi testar a técnica da amostragem seqüencial para avaliação da eficiência do parasitismo de Deladenus (Beddingia siricidicola em adultos de Sirex noctilio, a qual se mostrou como uma alternativa viável, pois se baseia em um tamanho variável de amostra, definido em função dos resultados obtidos durante os levantamentos amostrais, resultando em redução do tamanho da amostra, dos custos da atividade e precisão nos resultados. foram também abordados aspectos do parasitismo por Deladenus (Beddingia siricidicola.

  18. Anisakid nematodes (Nematoda: Anisakidae) from the marine fishes Plectropomus laevis Lacépède (Serranidae) and Sphyraena qenie Klunzinger (Sphyraenidae) off New Caledonia, including two new species of Hysterothylacium Ward & Magath, 1917.

    Science.gov (United States)

    Moravec, František; Justine, Jean-Lou

    2015-11-01

    Based on light and scanning electron microscopical studies, two new species of Hysterothylacium Ward & Magath, 1917 (Nematoda: Anisakidae) are described from the digestive tract of perciform fishes off New Caledonia: H. alatum n. sp. from Plectropomus laevis (Lacépède) (Serranidae) and H. sphyraenae n. sp. from Sphyraena qenie Klunzinger (Sphyraenidae). The former species (H. alatum) is mainly characterised by its large body (male 42.05 mm, gravid females 51.18-87.38 mm long), the shape of the dorsal lip, conspicuously broad cervical alae, a short caecum and a long ventricular appendix, the length of the spicules (925 µm), the number (25 pairs) and distribution of the genital papillae and the tail tip bearing numerous minute cuticular protuberances. The other species (H. sphyraenae) is mainly characterised by the presence of narrow lateral alae, a short caecum and a long ventricular appendix, the length (762-830 µm) and shape of the spicules, the number (37-38 pairs) and arrangement of the genital papillae, and by the tail tip which lacks any distinct cuticular projections visible under the light microscope. In addition, and unidentifiable at the species level, conspicuously large (45.71-66.10 mm long) larvae of Contracaecum Railliet & Henry, 1912, were found in the body cavity of P. laevis, which serves as a paratenic host for this parasite.

  19. New records of philometrids (Nematoda: Philometridae) from marine fishes off Iraq, with the erection of two new species and the first description of the male of Philometroides eleutheronemae Moravec & Manoharan, 2013.

    Science.gov (United States)

    Moravec, František; Ali, Atheer H; Abed, Jasim M; Shaker, Sara J

    2016-02-01

    Based on light and scanning electron microscopical studies, the following five species of philometrid nematodes (Nematoda: Philometridae) are described from marine fishes from off Basrah, southern Iraq (Arabian Gulf): Philometra iraqiensis n. sp. (females) from the abdominal cavity and ovary of the Klunzinger's mullet Liza klunzingeri (Day) (Mugiliformes: Mugilidae), P. megalaspidis n. sp. (females) from the ovary of the torpedo scad Megalaspis cordyla (Linnaeus) (Perciformes: Carangidae), Philometra sp. 1 (females) from the ovary of the greater lizardfish Saurida tumbil (Bloch) (Aulopiformes: Synodontidae), Philometra sp. 2 (females) from the ovary of the bartail flathead Platycephalus indicus (Linnaeus) (Scorpaeniformes: Platycephalidae) and Philometroides eleutheronemae Moravec & Manoharan, 2013 (male and females) from the ovary of the fourfinger threadfin Eleutheronema tetradactylum (Shaw) (Perciformes: Polynemidae). The new species are characterised mainly by the body length, the length and structure of the oesophagus and caudal end and by the family of their fish hosts. The male and the gravid female of P. eleutheronemae are described for the first time; the finding of this species in Iraqi waters represents the first record of this nematode in the region of the Arabian (=Persian) Gulf.

  20. Anisakis (Nematoda: Ascaridoidea) from Indonesia.

    Science.gov (United States)

    Palm, H W; Theisen, S; Damriyasa, I M; Kusmintarsih, E S; Oka, I B M; Setyowati, E A; Suratma, N A; Wibowo, S; Kleinertz, S

    2017-03-06

    Despite Indonesia's high marine biodiversity, there is a lack of information regarding fish parasites in Indonesian waters. During a sampling of 136 teleost species from Indonesian waters, 22 of them were infected with larvae of Anisakis Dujardin, 1845, a genus with zoonotic potential. We genetically identified 118 worms, provide a revision of all available sequences of the ITS-1-5.8S-ITS-2 marker from Indonesian Anisakis in GenBank (n = 125), and establish 16 new host records. So far, 53 Indonesian teleosts harbour Anisakis spp., 32 of them with known sequence data, increasing the worldwide teleosts with genetically identified Anisakis from 155 to 177. Sequence analyses of this marker in the 243 Anisakis specimens identified 3 Anisakis sp. HC-2005 and 39 (16%) A. typica (sensu stricto). A. berlandi and A. pegreffii are reported for the first time from teleosts in the equatorial region and A. physeteris from the Pacific Ocean. The latter 3 species were exclusively found in the migratory scombrid Auxis rochei. Most common infection sites were the body cavity, with 299 (of 848) worms in the mesenteries surrounding the liver, and 129 unattached. Musculature infection was very low, demonstrating minor risk of anisakiasis for human consumers. A total of 193 worms (~79%) had a distinct genotype distinguished from A. typica by 4 positions in the ITS-1 region. This genotype is reported since 2008 as 'A. typica', 'sibling', 'Anisakis sp./type 1', 'sp. I', 'sp. 2' or 'sp. II'. To avoid further misleading identification, we hereby apply the subspecific entity Anisakis typica var. indonesiensis until description of the adults becomes available.

  1. Redescription and first genetic characterisation of Procamallanus (Spirocamallanus) macaensis Vicente & Santos, 1972 (Nematoda: Camallanidae), including re-evaluation of the species of Procamallanus (Spirocamallanus) from marine fishes off Brazil.

    Science.gov (United States)

    Sardella, Carla J; Pereira, Felipe B; Luque, José L

    2017-07-01

    Newly collected specimens of Procamallanus (Spirocamallanus) macaensis Vicente & Santos, 1972 from the intestine of Paralonchurus brasiliensis (Steindachner), off Rio de Janeiro, Brazil, are redescribed and genetically characterised. Additionally, all congeners deposited in the Coleção Helmintológica do Instituto Oswaldo Cruz (CHIOC) parasitic in marine fishes of the South Atlantic, including types of P. (S.) macaensis, were re-evaluated. The following features are described for the first time in P. (S.) macaensis: morphology and arrangement of cephalic structures, shape of deirids and location of phasmids. The position of the excretory pore, the number and arrangement of caudal papillae in males, the structure of the spicules and of tail end in both males and females are rectified. Most specimens deposited in the CHIOC identified as P. (S.) pereirai Annereaux, 1946 were transferred to P. (S.) macaensis and others were designated as Procamallanus (S.) sp. Procamallanus (S.) cruzi Guimarães, Cristófaro & Rodrigues, 1976 is considered a species inquirenda due to its poor description and the lack of match of its original description with the type-material re-examined. Moreover, several taxonomic problems were noted after observations of the specimens (mostly poorly preserved), including inadequate morphological reports as well as misidentifications. Phylogenies inferred using sequences of the SSU rDNA from camallanids (Nematoda: Camallanidae) mostly generated weakly supported clades; however, Camallanus Railliet & Henry, 1915 and Procamallanus Baylis, 1923 do not seem to be monophyletic. Based on the present results and the lack of molecular data, it would be pertinent to adopt the widely-used classification for the subgenera of Procamallanus.

  2. Koebner′s epidermolysis bullosa simplex.

    Directory of Open Access Journals (Sweden)

    Madan Vishaal

    2001-01-01

    Full Text Available A 26 year - old male presented with vesicobullous lesions over the bony prominences and acral regions. On, examination these lesions were tense, and some were haemorrhagic. Family history of similar lesions was absent.

  3. Bullous Mastocytosis Mimicking Congenital Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Julio Cesar Salas-Alanis

    2014-05-01

    Full Text Available A 2-month-old female infant was referred to DebRA Mexico from the Regional Children's Hospital because of a generalized dermatosis from birth characterized by multiple blisters and erosions on the trunk, face and limbs, associated with minor trauma. A skin biopsy showing subepidermal blisters associated with a dermal infiltrate of Giemsa-positive cells and CD117-positive antibody was consistent with the diagnosis of bullous mastocytosis. Treatment with oral antihistamines, topical steroids, and antibiotics was initiated, leading to a remission of the lesions.

  4. Generalised Non Lethal Junctional Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Madan Vishaal

    2000-01-01

    Full Text Available An 18-year olf boy presented with multiple bullae and atrophic depigmented lesions over the acral region. On examination he also had dystrophic and absent nails, discolored and dystrophic teeth and complaints of gradual decrease in hearing ability and dysphagia. No family history of similar lesions was present.

  5. Angina bullosa hemorragica: reporte de un caso

    National Research Council Canada - National Science Library

    Luna Otalora, Sergio; Molano Valencia, Pablo Emilio; Vasquez Valencia, Mauricio Andres

    2017-01-01

    .... Se presenta el caso de una paciente para realizar cirugia de alargamiento coronal para corregir erupcion pasiva alterada tipo IB, a las dos semanas del posquirurgico presenta una lesion de aparicion...

  6. Taxonomic study of entomopathogenic nematodes (Nematoda ...

    African Journals Online (AJOL)

    Le séquençage et l'analyse phylogénétique de la région interspécifique de l'ADN ribosomal ont groupé nos isolats avec H. sonorensis et H. Taysearae dans les arbres de parcimonie maximale et de Neighbour Joining avec les supports respectifs 94 et 99 %. Les caractères morphologiques des juvéniles infectieux et des ...

  7. ISOLASI NEMATODA PATOGEN SERANGGA STEINERNEMA DAN HETERORHABDITIS

    Directory of Open Access Journals (Sweden)

    Chaerani, Y. Suryadi, T.P. Priyatno, D. Koswanudin1, U. Rahmat , Sujatmo, Yusuf, dan C.T. Griffin.

    2012-02-01

    Full Text Available Isolation of Entomopathogenic Nematodes Steinernema and Heterorhabditis. Entomopathogenic nematodes from the genus Steinernema and Heterorhabditis (Rhabditida: Steinernematidae and Heterorhabditidae are promising biological control agent of insect pests. Indigenous nematodes have been isolated and collected for the use in local biological control program of important insect pests. The nematodes were isolated using soil baiting method with insect larvae. Laboratory tests have shown that the mealworm larvae Tenebrio molitor (Coleoptera: Tenebrionidae served as a good alternative to the standard insect bait, the greater wax moth larvae Galleria mellonella (Lepidoptera: Galleriidae for isolation and maintenance of nematodes. Both nematodes were successfully isolated using T. molitor larvae from 13% soil samples (26 out of a total of 207 collected from 14 locations in West and Central Java and Lampung provinces in the period of 1993 until 2006. Heterorhabditis (9% was more prevalent than Steinernema (4%. Both nematodes were successfully propagated on mealworm larvae.

  8. Epidermolysis bullosa simplex: A case report | Peterside | Nigerian ...

    African Journals Online (AJOL)

    Nigerian Journal of Paediatrics. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 39, No 4 (2012) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should load here if your ...

  9. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

    NARCIS (Netherlands)

    Jonkman, MF; Pasmooij, AMG; Pasmans, SGMA; van den Berg, MP; ter Horst, HJ; Timmer, A; Pas, HH

    2005-01-01

    The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmic intermediate filament network. Mutations of DP may cause striate palmoplantar keratoderma,

  10. Stem-Cell Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2014-10-01

    100) (Life Technologies), B27 supplement (50) (Life Technologies), 50 μg/mL ascorbic acid , 0.05 % bovine serum albumin (BSA), 50U/mLpenicillin...EB), a group of rare inherited skin blistering diseases. To accomplish this goal, we are proposing to develop stem-cell based therapies for EB using...autologous induced pluripotent stem cells (iPSCs) derived from skin cells harvested from the same EB patient. During the second year of funding, we

  11. Stem Cell-Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2014-10-01

    Blood 2013, 121:3981-7. 75. Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R: Bone marrow transplantation in children with Hunter syndrome...licensee BioMed Centra Commons Attribution License (http://creativec reproduction in any medium, provided the or Dedication waiver (http...cell preparation protocols. Biomed Res Int 2014, 2014:951512. 60. Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, Pacy J, Elia G, Jeffery

  12. Generalised recessive dystrophic epidermolysis bullosa in two sisters

    Directory of Open Access Journals (Sweden)

    Grover Sanjiv

    2001-01-01

    Full Text Available Two female siblings of a family presented with a mechanobullous disorder since birth. Both had retarded physical development, flaccid bullac, extensive cutaneous erosions and scars, mucosal erosions, milia, corneal haziness, deformed and carious teeth, dystrophic nails, cicatricial alopecia of scalp and positive Nikolsky′s sign. Skin biopsy revealed subepidermal bulla. They were diagnosed as generalized recessive dystrophic epidermolysis bbllosa. They were given oral phcnytoin but failed to show significant response.

  13. Stem Cell-Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2015-12-01

    CTG  GAG  GAC  CGT  GGC   CTG  GCA  TCC  CGG  ATT   CTG  GAT   GCC  AAG  AGT  AAG  ATT  GAG...mutation   (GGATCCàGGATTC)   o Silent  blocking  mutations  introduced  in  gRNA  to  prevent  additional cutting   § CTAà CTG ...GGG  CCT  GGG   CTG  GAG  GAC  CGT  GGC   CTG  GCA  TCC  CGG

  14. Stem Cell-Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2015-12-01

    K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, Slukvin II, Thomson JA (2007) Induced pluripotent stem cell...Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, et al. 2007. Induced pluripotent stem

  15. Current concepts in the treatment of epidermolysis bullosa acquisita.

    Science.gov (United States)

    Gürcan, Hakan M; Ahmed, A Razzaque

    2011-06-01

    Long-term remission in EBA patients is difficult to achieve. Patients who are resistant or develop side effects to conventional immunosuppressive therapy (CIST) have been treated with several other agents. This review focuses on the clinical outcome in patients treated with a single drug or combination, and determines if long-term remission can be induced. Data on 71 patients was analyzed. There are no controlled trials. The regimens used included dapsone, colchicine, mesalazine, cyclosporine, mycophenolic acid, intravenous immunoglobulin, rituximab, daclizumab, extracorporeal photochemotherapy, and plasmapheresis. An algorithm on treating a patient has been presented. The use of CIST, especially in wide spread and recalcitrant patients, usually does not produce a prolonged clinical remission and can have hazardous side effects. Intravenous immunoglobulin, rituximab and immunoadsorption have been successfully used in some, but the benefits from their use may require additional studies. The immediate future holds much promise for the development of a specific ELISA which may facilitate the early diagnosis of EBA. As the population ages, it is likely that the number of patients will increase and newer biological agents may emerge that may have a better clinical outcome. One of the challenges is to produce "targeted therapies".

  16. Use of Epidermolysis Bullosa Biomarkers in Models of Vesicant Injury

    Science.gov (United States)

    2006-09-01

    and/or erythema ; 2 = focal areas of necrosis, but tissue still pliable; 3 = less than 50% of tissue is necrotic, tissue firm and dry, and 4 = more...Biophys Res Commun 2006; 343(3):692-699. (6) Christiano AM, Uitto J. Polymorphism of the human genome: markers for genetic linkage analyses in

  17. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    respectively. Pregnancy was uneventful, with no history of polyhydramnios. The parents are second-degree relatives, with no family history of similar disease. Physical examination at birth indicated stable vital signs and denuded skin over the right leg from the knee joint up to the middle of the right foot; the ankle area was.

  18. Three new bisexual species of Labronema Thorne, 1939 (Nematoda: Qudsianematidae

    Directory of Open Access Journals (Sweden)

    Andrássy, I.

    2011-10-01

    Full Text Available Three new species of the genus Labronema Thorne, 1939 are described on the basis of both female and malespecimens. Labronema aequatoriale sp. n. from Ecuador is characterized by the body length on average 2.77 (female and 2.46(male mm, odontostyle as long as labial width, very long cardia, long rectum, short prerectum and supplements 21–23.Labronema singhalese sp. n. from Sri Lanka is differentiated by 3 mm long body, odontostyle longer than labial diameter, shortfemale and long male prerectum, long eggs and supplements 20 in number. Labronema orientale sp. n. from Taiwan ischaracterized by a body length on average 2.52 (female and 2.65 (male mm, lip region offset, odontostyle longer than labialwidth, long rectum, short prerectum and 24–27 supplements. The taxonomic positions of Labronema species described after1989-90 are commented.

  19. The phylogenetics of Anguillicolidae (Nematoda: Anguillicoloidea, swimbladder parasites of eels

    Directory of Open Access Journals (Sweden)

    Laetsch Dominik R

    2012-05-01

    Full Text Available Abstract Background Anguillicolidae Yamaguti, 1935 is a family of parasitic nematode infecting fresh-water eels of the genus Anguilla, comprising five species in the genera Anguillicola and Anguillicoloides. Anguillicoloides crassus is of particular importance, as it has recently spread from its endemic range in the Eastern Pacific to Europe and North America, where it poses a significant threat to new, naïve hosts such as the economic important eel species Anguilla anguilla and Anguilla rostrata. The Anguillicolidae are therefore all potentially invasive taxa, but the relationships of the described species remain unclear. Anguillicolidae is part of Spirurina, a diverse clade made up of only animal parasites, but placement of the family within Spirurina is based on limited data. Results We generated an extensive DNA sequence dataset from three loci (the 5' one-third of the nuclear small subunit ribosomal RNA, the D2-D3 region of the nuclear large subunit ribosomal RNA and the 5' half of the mitochondrial cytochrome c oxidase I gene for the five species of Anguillicolidae and used this to investigate specific and generic boundaries within the family, and the relationship of Anguillicolidae to other spirurine nematodes. Neither nuclear nor mitochondrial sequences supported monophyly of Anguillicoloides. Genetic diversity within the African species Anguillicoloides papernai was suggestive of cryptic taxa, as was the finding of distinct lineages of Anguillicoloides novaezelandiae in New Zealand and Tasmania. Phylogenetic analysis of the Spirurina grouped the Anguillicolidae together with members of the Gnathostomatidae and Seuratidae. Conclusions The Anguillicolidae is part of a complex radiation of parasitic nematodes of vertebrates with wide host diversity (chondrichthyes, teleosts, squamates and mammals, most closely related to other marine vertebrate parasites that also have complex life cycles. Molecular analyses do not support the recent division of Anguillicolidae into two genera. The described species may hide cryptic taxa, identified here by DNA taxonomy, and this DNA barcoding approach may assist in tracking species invasions. The propensity for host switching, and thus the potential for invasive behaviour, is found in A. crassus, A. novaezelandiae and A. papernai, and thus may be common to the group.

  20. Ketahanan Beberapa Aksesi Kenaf Terhadap Nematoda Puru Akar (Meloidogyne Spp)

    OpenAIRE

    BUDI, UNTUNG SETYO; Hartati, Rr Sri; Suhara, Cece

    2005-01-01

    Resistance of kenaf accessions to root knot nematodes Root knot nematode (Meloidogyne spp) is the main pest of kenafboth the field and nursery. This reduced kenaf farmer's income because itdecreased the productivity. One of the solutions to eliminate this problemis utilization of resistant variety. Evaluation of germplasm is one of themethods to identify tolerant accessions to root knot nematode. Theexperiment aimed to screen the level of resistance of kenaf and allied fibreaccessions to root...

  1. Pakira orae Yeates, 1967 from Transkei (Nematoda: Leptolaimidae)

    African Journals Online (AJOL)

    1989-05-26

    May 26, 1989 ... The monotypic genus Pakira has never again been reported in the literature since its description from dune sands in New Zealand by Yeates in 1967. During a nematode survey in the Cebe Nature Reserve, a coastal reserve at the mouth of the Cebe River in Transkei, the authors found several specimens ...

  2. PENGARUH TEMPERATUR TERHADAP PERKEMBANGAN NEMATODA SISTA KENTANG (GLOBODERA SPP. INDONESIA

    Directory of Open Access Journals (Sweden)

    Lisnawita, Meity S. Sinaga Supramana & Gede Suastika .

    2011-11-01

    Full Text Available The effect of temperature on the development of Indonesian potato cyst nematode.  Potato cyst nematode (PCN is a serious pathogen of potato and is found in most potato producing areas of the world.  In Indonesia, PCN was recently discovered and recognized as major constraint on potato.  The growth and behaviour of nematodes are affected by the environment.  Therefore, determination of the biology of PCN Indonesian populations is urgently needed to manage this pathogens effectively.  The effect of temperature on biology factors of four PCN Indonesian populations (North Java 1, North Java 2, West Java, and Central Java was studied at different temperatures levels (12, 15, 18, 21 and 24ºC in the growth chamber.  The aim of this research was to study the effect of temperature on development of PCN.  Observation was conducted on cyst number, reproduction factor (Rf, survival, fecundity and multiplication of PCN.   The optimum temperature range for maximum cysts production with the highest reproduction factor, survival, fecundity and multiplication rate for all populations was 15 - 21ºC.  The hatching and development of all PCN populations reduced at temperature below 15ºC or above 21ºC.

  3. Redescription of three South African Monhystera species (Nematoda)*

    African Journals Online (AJOL)

    1993-07-22

    Jul 22, 1993 ... spicules = 95 (90,5-99) Jlm; tail = 147 (134-165) Jlm; tail/ spicule = 1,54 (1,4-1,7); spicule/anal body diameter = 3,Z7. (2,8-4,0). Anterior end of body not set off, but distinctly broadened between fovea and labial setae. Oral opening about 10 Jlm wide, surrounded by peri-oral platelets. Cephalic setae.

  4. Book review: Systematics of Cyst Nematodes (Nematoda: Heteroderinae)

    Science.gov (United States)

    The cyst nematodes are an important group of plant-parasitic nematodes that cause billions of dollars in economic damage to crops every year. This article reviews a recently published, two-volume monograph that describes the morphological and molecular characteristics of these agriculturally signif...

  5. [Taxonomy and evolution of the genus Pratylenchoides (Nematoda: Pratylenchidae)].

    Science.gov (United States)

    Ryss, A Iu

    2007-01-01

    The amended diagnosis of the genus Pratylenchoides and list of its valid species with synonyms are given. All the efficient diagnostic characters are listed. Modern taxonomic standard for the description of Pratylenchoides species is proposed; it may be used also in taxonomic databases. Tabular and text keys for all species of the genus are given. Five following groups are considered within the genus Pratylenchoides. The group arenicola differs from other groups in the primitive adanal bursa type; the groups magnicauda, crenicauda, ritteri, and megalobatus differ from each other in the position of cardium along the body axis in relation to the pharyngeal gland nuclei, pharynx types are named according to the stages of its evolution from the primitive tylenchoid pharynx (cardium situated posteriorly) to the advanced hoplolaimoid one (cardium situated anteriorly). Diagnoses and species compositions of the groups are given. Basing on the matrix of species characters, the dendrogram has been generated for all species of Pratylenchoides and for all characters (UPGMA, distance, mean character difference, random, characters ordered). Taking in view that the PAUP software gives equal weights to all characters, including the most important ones which define the prognostic species groups, the separate dendrograms for each prognostic species group were generated using the same above mentioned tree parameters. On the base of the records of Pratylenchoides species the matrices of plant host ranges, geographic distribution, and preferred soil-climatic conditions were developed. The dendrograms of the faunal similarities were generated using these matrices, with conclusions on a possible origin and evolution of the genus. The genus evolved from the flood lands with swampy soils and prevalence of dicotyledons (herbaceous Lamiaceae and woody Salicaceae families) to the forest mainland communities with balanced humidity and predominance of herbaceous Poaceae and Fabaceae with woody Fagaceae, Betulaceae, and Oleaceae. The leading factor of the evolutional adaptation to soil-climatic conditions was the factor of humidity, but its significance gradually decreased with the host change to more advanced plant taxa adapted to the communities with more dry balanced humidity. The genus took its origin on the south shores of Laurasia in the Cainozoe. Later, when Hindistant and Arabian Peninsula joined with Laurasia creating the Himalayas barrier, the Pratylenchoides spp. distributed by two branches: the northern one moved into Central Asia, East Europe and North America, and the south branch came into Indo-Malaya, West Asia and the north of Africa. The remnants of the ancient species groups remain in West Europe and East Asia. In the North America the genus gave an origin to its sister genus Apratylenchoides, which spread to the south up to Antarctica; another advanced branch spread in the North America reaching Alaska.

  6. Fylogenetische SSU rDNA-analyse van het fylum Nematoda

    NARCIS (Netherlands)

    Holterman, M.H.M.; Elsen, van den S.J.J.; Megen, van H.H.B.; Wurff, van der A.W.G.; Helder, J.

    2007-01-01

    Nematoden vormen één van de meestgevarieerde en succesvolle diergroepen ter wereld. Ze zijn waarschijnlijk de meest talrijke dieren op aarde, komen in uiteenlopende milieus voor (zowel terrestrische als marien) en spelen een belangrijke rol in het ecosysteem. De verscheidenheid van voedingstypes en

  7. Diversification and adaptive sequence evolution of Caenorhabditis lysozymes (Nematoda: Rhabditidae).

    Science.gov (United States)

    Schulenburg, Hinrich; Boehnisch, Claudia

    2008-04-19

    Lysozymes are important model enzymes in biomedical research with a ubiquitous taxonomic distribution ranging from phages up to plants and animals. Their main function appears to be defence against pathogens, although some of them have also been implicated in digestion. Whereas most organisms have only few lysozyme genes, nematodes of the genus Caenorhabditis possess a surprisingly large repertoire of up to 15 genes. We used phylogenetic inference and sequence analysis tools to assess the evolution of lysozymes from three congeneric nematode species, Caenorhabditis elegans, C. briggsae, and C. remanei. Their lysozymes fall into three distinct clades, one belonging to the invertebrate-type and the other two to the protist-type lysozymes. Their diversification is characterised by (i) ancestral gene duplications preceding species separation followed by maintenance of genes, (ii) ancestral duplications followed by gene loss in some of the species, and (iii) recent duplications after divergence of species. Both ancestral and recent gene duplications are associated in several cases with signatures of adaptive sequence evolution, indicating that diversifying selection contributed to lysozyme differentiation. Current data strongly suggests that genetic diversity translates into functional diversity. Gene duplications are a major source of evolutionary innovation. Our analysis provides an evolutionary framework for understanding the diversification of lysozymes through gene duplication and subsequent differentiation. This information is expected to be of major value in future analysis of lysozyme function and in studies of the dynamics of evolution by gene duplication.

  8. Diversification and adaptive sequence evolution of Caenorhabditis lysozymes (Nematoda: Rhabditidae

    Directory of Open Access Journals (Sweden)

    Boehnisch Claudia

    2008-04-01

    Full Text Available Abstract Background Lysozymes are important model enzymes in biomedical research with a ubiquitous taxonomic distribution ranging from phages up to plants and animals. Their main function appears to be defence against pathogens, although some of them have also been implicated in digestion. Whereas most organisms have only few lysozyme genes, nematodes of the genus Caenorhabditis possess a surprisingly large repertoire of up to 15 genes. Results We used phylogenetic inference and sequence analysis tools to assess the evolution of lysozymes from three congeneric nematode species, Caenorhabditis elegans, C. briggsae, and C. remanei. Their lysozymes fall into three distinct clades, one belonging to the invertebrate-type and the other two to the protist-type lysozymes. Their diversification is characterised by (i ancestral gene duplications preceding species separation followed by maintenance of genes, (ii ancestral duplications followed by gene loss in some of the species, and (iii recent duplications after divergence of species. Both ancestral and recent gene duplications are associated in several cases with signatures of adaptive sequence evolution, indicating that diversifying selection contributed to lysozyme differentiation. Current data strongly suggests that genetic diversity translates into functional diversity. Conclusion Gene duplications are a major source of evolutionary innovation. Our analysis provides an evolutionary framework for understanding the diversification of lysozymes through gene duplication and subsequent differentiation. This information is expected to be of major value in future analysis of lysozyme function and in studies of the dynamics of evolution by gene duplication.

  9. The Nematoda Filarioidea: critical analysis linking molecular and traditional approaches

    Directory of Open Access Journals (Sweden)

    Bain O.

    2008-09-01

    Full Text Available The molecular analysis of the Filarioidea and the endobacteria Wolbachia is no more limited to the agents of human diseases and the diversified sampling permits a synthesis with the morphological and biological results. The validity of the genera with “uncoherent host range”, such as Mansonella, Litomosoides and Cercopithifilaria, is confirmed and, consequently, their evolution by host-switchings. Dirofilaria and Onchocerca, types of two subfamilies, appear more closely related than with other onchocercids. Waltonellinae from anurans and Oswaldofilariinae from reptiles have a basal position. These filariae, and some others also considered primitive, do not harbour Wolbachia. Evidence for transversal transmission of the bacteria and a second acquisition event is given with the supergroup F, identified in Mansonella, in one of the Cercopithifilaria species and in arthropods.

  10. Morphology and Systematics of the Order Plectida Malakhov, 1982 (Nematoda)

    NARCIS (Netherlands)

    Holovachov, O.V.

    2006-01-01

    Nematodes constitute one of the largest animal phyla. Hitherto about 20.000 species have been described but there are estimates that this number is less than 2% of the total number of existing species. Although the larger animal and human parasites were known since ancient times the description of

  11. Four new species of the genus hemicriconemoides (nematoda:criconematidae).

    Science.gov (United States)

    Pinochet, J; Raski, D J

    1975-07-01

    Four new species of the genus Hemicriconemoides (H. californianus n.sp., H. taiwanensis n.sp., H. annulatus n. sp., and H. nitida n.sp.) are described. The range of total length of H. mangiferae is increased on the basis of specimens collected in Israel, Observations on H. mangiferae and H. litchi support the validity of H. litchi as distinct from H. mangiferae.

  12. Nematoda from the terrestrial deep subsurface of South Africa

    NARCIS (Netherlands)

    Borgonie, G.; García-Moyano, A.; Litthauer, D.; Bert, W.; Bester, A.; Heerden, van E.; Möller, C.; Erasmus, M.; Onstott, T.C.

    2011-01-01

    Since its discovery over two decades ago, the deep subsurface biosphere has been considered to be the realm of single-cell organisms, extending over three kilometres into the Earth’s crust and comprising a significant fraction of the global biosphere1–4. The constraints of temperature, energy,

  13. Three new species of heteroderoidea (nematoda) from the Aleutian Islands

    Energy Technology Data Exchange (ETDEWEB)

    Bernard, E.C.

    1981-10-01

    Three new species of Heteroderoidea are described from Adak and Amchitka Islands in the Aleutian chain. Second-stage juveniles of Thecavermiculatus crassicrustata, n. sp., differ from those of T. gracililancea Robbins by having longer stylets (40 to 50 ..mu..m vs 19 to 22 ..mu..m). The female of T. crassicrustata has a longer neck, a more posterior excretory pore, and lacks a posterior protuberance. Meloidodera eurytyla, n. sp., differs from other Meloidodera spp. in that second-stage juveniles have longer stylets (32 to 35 ..mu..m) and much more massive styletknobs, while males have a longitudinally striated basal head annule. Meloidogyne subarctica, n. sp., can be separated from other Meloidogyne spp. by combinations of the following characteristics: perineal pattern with large oval areas in the tail region devoid of striae, arch with few unbroken striae; female excretory pore 1.5 to 2.5 x the stylet length from the anterior end; haploid chromosome number = 18; the spermatheca filled with sperm; stylet length of second-stage juveniles 13.5 to 15.4 ..mu..m.

  14. Longidorus kheirii n. sp. (Nematoda: Longidoridae) from Iran.

    Science.gov (United States)

    Pedram, Majid; Niknam, Gholamreza; Robbins, Robert T; Ye, Weimin; Karegar, Akbar

    2008-11-01

    Longidorus kheirii n. sp., a parthenogenetic species, was found in soil samples collected from the rhizosphere of Rosa sp. growing in a natural mountainous region close to Maragheh city, northwestern Iran. It is characterised by having a long body (6.7-9 mm), a 19.5-23 mum wide head continuous with the body contour, a truncate and slightly concave lip region with convex sides between the anterior end and the guide-ring, an odontostyle 113-130 mum long, an odontophore 69-97.5 mum long, a body width of 90.5-117.5 mum at the mid-body, a long, wide oesophageal bulb (149.5-193.5 x 39.5-48 mum), a tail length of 47-72 mum, a male with 11 ventromedian supplements and spicules of 85 mum in length, and four juvenile stages. The ribosomal 18S rDNA gene of L. kheirii n. sp., L. leptocephalus Hooper, 1961, L. profundorum Hooper, 1966 L. euonymus Mali & Hooper, 1973 and two unidentified species listed as Longidorus sp. 1 and Longidorus sp. 2, all recovered from northwestern Iran in the same survey, and the ITS1 of L. kheirii n. sp. and Longidorus sp. 1 were sequenced in order to investigate the phylogenetic relationships with other previously sequenced Longidorus species.

  15. (Nematoda: Oncholaimidae) from fresh water in the Transvaal

    African Journals Online (AJOL)

    dulcis was described by Schneider in 1937, from East Java. A second freshwater species O. deconincki was described fourty years later from South Africa, ..... paratypes in the British Museum (Natural History) London,. England. Differential diagnosis. Oncholaimus jessicae n.sp. closely resembles O. deconincki Heyns ...

  16. Kajian Tanaman Inang Nematoda Puru Akar Padi (Meloidogyne graminicola

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    Mulyadi Mulyadi

    1995-12-01

    Full Text Available The objective of the research was to study host plants or alternate hosts of root-knot nematode of rice (Meloidogyne graminicola. At the first phase research, ten rice cultivars were inoculated with M. graminicola. On the second phase, nineteen species of plants were treated with M. graminicola. Both experiments were done in green house in Completely Randomized Design. The third phase research was conducted as a survey method using “proportional random sampling”, with D.I. Yogyakarta as its survey areas.  The research results indicated that all rice cultivars tested were attacked by M. graminicola. The lowest number of root-gall was found in IR 26. Of the 19 species plants tested, soybean, pea common bean, france bean, cabbage, and sugarcane var. Ps 56 were attacked by M. graminicola. The survey results indicated that 15 species of weeds were invaded by M. graminicola, i.e. Coix lacrymajobi, Comelina nudiflora, Cyperus flavidus, C. iria, Echinochloa colona, Eragrotis amabilis, Fimbristylis pilosa, Ichaimum mutichum, Leersia hexandra, Ludwigia adscendens, L. peruviana, Marsilea crenata, Monochoria vaginalis, Polygonum barbatum, and Stagnima sp. The highest populatiom of M. graminicola was found on E. colona. Key words: host plants, Meloidogyne graminicola

  17. Psammonema waweri sp. n. (Nematoda: Desmodoridae), a brood ...

    African Journals Online (AJOL)

    Psammonema waweri is the third species in the recently described genus Psammonema, (Verschelde & Vincx, 1995) after the type species P. ovisetosum and P. kuriani ( Jacob et al., 2015). It is characterized by large loop-shaped amphids that overlap both the anterior and posterior part of the cephalic capsule, a lateral ...

  18. Mitochondrial coi in phylogenetic relationships of Laimaphelenchus belgradiensis (nematoda: Aphelenchoididae

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    Oro Violeta

    2015-01-01

    Full Text Available Nematodes of the genus Laimaphelenchus are small and tiny organisms. Some parts of their body are measured in nanometers. The identification and classification of such organisms is a complex task. Previously, the major source of classification was morphology based on anatomical characters and measurements. Nowadays, this approach is supplemented by: “nano-morphology” based on scanning electron microscopy and molecular data and phylogeny, resulting in molecular systematics. Laimaphelenchus belgradiensis was recently described species. Since cytochrome c oxidase subunit I gene was successful in DNA based species diagnosis, it was chosen as a molecular marker to infer phylogeny of the newly discovered species. Phylogenetic relationships were based on Bayesian inference, the pairwise distances and the content of nitrogenous bases. The great genetic diversity was observed among close and distant species. [Projekat Ministarstva nauke Republike Srbije, br. TR 31018 i br. III 46007

  19. Calodium (Capillaria hepaticum (Nematoda, Capillariidae in insular small rodent populations

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    Bugmyrin Sergey

    2014-12-01

    Full Text Available The data on the distribution of the nematode Calodium hepaticum (Bancroft 1893 Moravec 1982 (syn.: Capillaria hepatica, Hepaticola hepatica on the islands of Kizhi Archipelago are reported (N 62°00'; E 35°12'. Samples were collected on 18 islands and the mainland part of the Kizhi skerries region in the period from August 2005 till 2014. The method of partial helminthological dissection was applied to 346 specimens of rodents belonging to two species – the bank vole Myodes glareolus Schreber 1780 (301 spm. and the field vole Microtus agrestis Linnaeus 1761 (45 spm.. The prevalence and the abundance index of nematode were 16.6% and 1.1 in M. glareolus and 11.1%; 0.3 in M. agrestis, respectively. The highest prevalence and abundance of C. hepaticum were detected in mature voles. No sex-related differences were found. C. hepaticum was present in 12 of 19 sampling sites. On the islands where the sample number (host individuals was over 15, the highest prevalence and abundance values were 57% and 5.8 spm., respectively. Significant positive coefficients of correlation (Spearman’s and Pearson’s ones between nematode numbers and characteristics of the island were found in the pair «Prevalence – degree of isolation» (0.48 and 0.49. Single-factor analysis of variance showed that the size of the island had some effect on the nematode invasion prevalence and abundance. However, no significant regression relationship between the prevalence and abundance of nematodes and characteristics of an island was revealed by multivariate regression analysis (multiple regression: the coefficient of determination of the regression equation R2 < 0.3, and the regression coefficients were insignificant The reasons for high abundance of C. hepaticum in northern insular ecosystems are discussed. Possible key factors for the stable vitality of the parasite populations are: 1 favourable hydrothermal conditions of the soil in the shore (littoral zone; 2 the possibility of passive transfer between islands; 3 the ability to survive outside the host for a long time (an egg can remain invasive in the external environment for up to three years; and 4 cannibalism as the main pathway of vermination circulation in isolated populations of small mammals.

  20. KARAKTERISTIK KOMUNITAS NEMATODA DI PADANG GOLF SUKARAME (PGS BANDAR LAMPUNG

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    I Gede Swibawa dan Titik Nur Aeny .

    2012-02-01

    Full Text Available ABSTRACT Characteristic of  Nematodes Community at PGS Golf Course Bandar Lampung. Golf course is a unique ecosystem where plant parasitic nematodes inhabit and become  important pest because they reduce the quality of the grass.  The pest problems on golf course can be indicated by its characteristics of nematode community.  Survey on nematodes community at PGS Golf Course Bandar Lampung was conducted from March to December 2004.  The objective was to study the characteristics of nematode community in the part of golf courses hole (green, collar, apron, and fairway.  Soil samples were taken from five holes each of it consists of green, collar, apron, and fairway, respectiveley.  Nematodes extraction was done in Laboratory of Arthropod Pest, Department of Plant Protection University of Lampung.   The result showed that at least 50 nematodes genera of 28 families inhabit PGS. The number of plant parasitic nematode genera was higher than the free-living one.  The characteristic of nematodes community on green and collar was different than on faiway. Nematode abundance and diversity on green and collar were higher than on fairway.  Based on abundance of nematode feeding group, maturity index of free-living nematodes (MI and that of plant parasitic nematodes (PPI, green and collar part seemed to be more favorable to plant parasitic nematodes than free-living nematodes. The contrary happened for fairway.  Four most dominant genera of plant parasitic nematodes on PGS golf course were Helicotylenchus, Hoplolaimus, Criconemella, and Xiphinema.

  1. Neotobrilus nicsmolae n. sp. (Tobrilidae: Nematoda) and Chronogaster carolinensis n. sp. (Chronogasteridae: Nematoda) from Lake Phelps, North Carolina

    Science.gov (United States)

    Abebe, Eyualem; Ferebee, Briana; Taylor, Tarreyca; Mundo-Ocampo, Manuel; Mekete, Tesfamariam; De Ley, Paul

    2013-01-01

    Two new species, Neotobrilus nicsmolae n. sp. and Chronogaster carolinensis n. sp. are described from a small, acidic, temperate, natural lake in North Carolina. N. nicsmolae n. sp. comes close to three members of the genus reported from North America, N. filipjevi, N. longus, and N. hopei. However, N. nicsmolae is unique with in the genus in having a combination of characters: size smaller than 1,700 μm, shorter outer labial and cephalic setae, tail shorter than 250 μm, last ventromedian supplement close (about 5 μm) to cloacal opening, spicule length of 61 to 85 μm, flagelloid sperm, and possession of subterminal setae. Assessment of relationships among clades within the Triplonchida using DNA sequences of the D2D3 expansion segment of the LSU rDNA showed that the family Trichodoridae and the genus Tripyla were recovered as monophyletic. The genus Tobrilus was recovered as monophyletic in the neighbor-joining and maximum likelihood trees, but that was not so in the maximum-parsimony tree. The separation among genera of the Trichodoridae, i.e., Trichodorus and Paratrichodorus, was not clear-cut in all phylograms. Chronogaster carolinensis n. sp. in having one ventral mucro with no spine and vacuolated lateral glandular bodies comes close to C. typica and C. ethiopica but differs from all hitherto known species in a combination of characteristics: in having long cephalic setae, long stoma, crystalloid bodies, vacuolated lateral glandular bodies, and a tail terminus with blunt ventral mucro, and its lack of lateral line. PMID:23589662

  2. Molecular Characterization of Squamous Cell Carcinomas From Recessive Dystrophic Epidermolysis Bullosa

    Science.gov (United States)

    2006-09-01

    embedded in a mixture of EMbed 812, nadic methyl anhydride, dodecenyl succinic anhydride and DMP-30 (Electron Microscopy Sciences, Hatfield, PA...Thin sections were cut using a Reichert UCT ultramicrotome and post-stained with uranyl acetate and bismuth subnitrate. Tissue sections were examined

  3. Development of Genetic Therapies for the Hemidesmosol Subtypes of Junction Epidermolysis Bullosa

    Science.gov (United States)

    2003-11-01

    improvements to lines/wri and hyperpigmented skin. Cosmetic vitamin A derivatives, such as retinol and retinyl #P-z, r, h’ in rpru-%ripA tr, nr,,,,A,-. ,- 4,-tA...Nucleic Acid Quantification by Reverse Transcription-Polymerase Chain Reaction (RT- PCR). Arch. Immunol. Ther. Exp. 43:111-115. 50. Christiano, A.M...Method for Quantification of mRNA by Competitive Reverse Transcription- Polymerasee Chain Reaction (RT-PCR). In: Proceedings of Symposium, Molecular

  4. IgA-mediated epidermolysis bullosa acquisita : Two cases and review of the literature

    NARCIS (Netherlands)

    Vodegel, RM; de Jong, MCJM; Pas, HH; Jonkman, MF

    2002-01-01

    We describe 2 adult patients with a subepidermal bullous dermatosis with exclusively linear IgA depositions along the epidermal basement membrane zone that were deposited in the sublamina densa zone as witnessed by direct immunoelectron microscopy. Indirect immunofluorescence microscopy of patients'

  5. Conservative Treatment of a Patient with Epidermolysis Bullosa Presenting as Bart Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Samet Vasfi Kuvat

    2010-01-01

    Full Text Available We presented a case of a newborn male with aplasia cutis congenita on the lower limb. The case was treated with conservative method. As for the conservative treatment, daily hydrodebridement with 1/200 diluted povidone-iodine and serum physiologic was performed, followed by closure of the wound with a dexpanthenol + chlorhexidine + fusidic acid-impregnated sterile gauze bandage. the followup that occured after three weeks, the wound was completely epithelialized, but a hypopigmented scar remained in the limb.

  6. Tissue alterations in the pirarucu, Arapaima gigas, infected by Goezia spinulosa (Nematoda Alterações teciduais em pirarucu, Arapaima gigas, infectado por Goezia spinulosa (Nematoda

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    Rodrigo Caldas Menezes

    2011-09-01

    Full Text Available Five specimens of Arapaima gigas caught in the Araguaia River (State of Mato Grosso, Brazil were investigated for helminths in 2004. Numerous adult specimens of the rhapidascarid nematode Goezia spinulosa were found in stomach ulcers in all the specimens of A. gigas and were surrounded by thickening of the mucosa. The gastric glands of all the fish were necrotic and there was a severe and diffuse inflammatory reaction composed of eosinophils (which were predominant, lymphocytes and rare macrophages in the mucosa, submucosa and muscle layer. This is the first report of tissue lesion occurrences in this host, in the presence of G. spinulosa, and it confirms the high pathogenicity of this parasite species.Cinco espécimens de Arapaima gigas capturados no Rio Araguaia (Estado do Mato Grosso, Brasil foram investigados para diagnóstico de infecção por helmintos em 2004. Numerosos espécimes adultos do nematóide rafidascarídeo Goezia spinulosa foram encontrados em úlceras do estômago circundadas por um espessamento da mucosa em todos os exemplares de A. gigas. As glândulas gástricas de todos encontravam-se necróticas e havia um acentuado e difuso infiltrado inflamatório composto por eosinófilos, que eram predominantes, linfócitos e raros macrófagos na mucosa, submucosa e camada muscular. As lesões teciduais na presença de nematóide G. spinulosa são relatadas pela primeira vez nesse hospedeiro e confirmam a alta patogenicidade dessa esp��cie de parasito.

  7. Contracaecumovale (Nematoda: Anisakidae from Rollandia rolland Quoy & Gaimard 1824 (Aves, Podicipedidae in Argentina Contracaecumovale (Nematoda: Anisakidae de Rollandia rolland Quoy & Gaimard 1824 (Aves, Podicipedidae na Argentina

    Directory of Open Access Journals (Sweden)

    Noelia Adelina Galeano

    2012-06-01

    Full Text Available Necropsy on 15 specimens of white-tufted grebe, Rollandiarolland, caught in the Mar Chiquita and Chascomús lagoons (Buenos Aires province, revealed the presence of Contracaecumovale (Linstow, 1907. This nematode shows a marked specificity for podicipediform birds. The specimens were identified from morphological study on features such as cephalic and esophageal structures and caudal papillae, using both optical and scanning electron microscopy. This is the first record of C. ovale parasitizing R. rolland in Argentina.Necropsia de 15 espécimes de mergulhão-de-orelha-branca, Rollandiarolland, coletados nas lagoas Mar Chiquita e Chascomús (Província de Buenos Aires, revelou a presença de Contracaecumovale (Linstow, 1907. Esse nematóide tem uma marcada especificidade pelas aves podicipediformes. Os espécimes foram identificados a partir de características, tais como estruturas morfológicas cefálicas e esofágicas e papilas caudais, utilizando-se microscopia óptica e microscopia eletrônica de varredura (MEV. Esse é o primeiro registro de C. ovale parasito de R. rolland na Argentina.

  8. Novas considerações morfológicas e sistemáticas sobre os Procamallanus brasileiros (Nematoda, Camallanoidea On Brazilian Procamallanus (Nematoda, Camallanoidea

    Directory of Open Access Journals (Sweden)

    R. Magalhães Pinto

    1976-01-01

    Full Text Available Mais uma vez os autores apresentam os resultados obtidos, após examinarem 62 amostras de Procamallanus brasileiros parasitas de peixes dulcícolas. Duas novas espécies são propostas: Procamallanus (Spirocamallanus pexatus e Procamallanus (Procamallanus peraccuratus, esta representando a primeira ocorrência do subgênero no Brasil. Procamallanus (Spirocamallanus probus pinto & fernandes, 1972, é considerada sinônimo de Procamallanus (Spirocamallanus inopinatus Travassos, Artigas & Pereira, 1928. Um lote não identificado, por insuficiência de dados, é incluído como Procamallanus (Spirocamallanus sp.After studying 63 Procamallanus samples recovered from Brazilian freshwater fishes, the authors in this third article on the subject propose two new species: Procamallanus Spinocamallanus pexatus from Pygidium brasiliensis (Reinh. and Procamallanus (Procamallanus peraccuratus from Geophagus brasiliensis (Quoy & Gmard. and Cichlasoma facetum (Jenyns (Cichlaurus facetus as well as consider Procamallanus (Spirocamallanus probus Pinto & Fernandes, 1972, synonym of Procamallanus (Spirocamallanus inopinatus Travassos, Artigas & Pereira, 1928, after rechecking the type amount of the former. They also affix an unidentified sample as Procamallanus (Spirocamallanus sp.

  9. Systematics of the genus Gnathostoma (Nematoda: Gnathostomatidae in the Americas Sistemática del género Gnathostoma (Nematoda: Gnathostomatidae en América

    Directory of Open Access Journals (Sweden)

    Florencia Bertoni-Ruiz

    2011-06-01

    Full Text Available To date, more than 20 species of the genus Gnathostoma have been described as parasites of mammals, 9 of them in the Americas. However, the taxonomic status of some of these species has been questioned. The main goal of this study is to clarify the validity of the American species included in the genus. In order to complete this objective, we analyze type and/or voucher specimens of all these species deposited in 6 scientific collections, through morphometric and ultrastructural studies. Based on diagnostic traits as host specificity, site of infection, body size, cuticular spines, presence of 1 or 2 bulges in the polar ends of eggs, as well as eggshell and caudal bursa morphology, we re-establish Gnathostoma socialis (Leidy, 1858 and confirm the validity of other 6 species: Gnathostoma turgidum Stossich, 1902, Gnathostoma americanum Travassos, 1925, Gnathostoma procyonis Chandler, 1942, Gnathostoma miyazakii Anderson, 1964, Gnathostoma binucleatum Almeyda-Artigas, 1991, and Gnathostoma lamothei Bertoni-Ruiz, García-Prieto, Osorio-Sarabia and León-Règagnon, 2005. Gnathostoma didelphis Chandler, 1932 and Gnathostoma brasiliensis Ruiz, 1952 are considered synonyms of G. turgidum. Finally, based on a wide revision of specimens deposited in 6 American collections, we conclude that records of Gnathostoma spinigerum Owen, 1836 in the Americas are invalid.A la fecha, se han descrito más de 20 especies del género Gnathostoma parásitas de mamíferos, 9 de ellas en America. Sin embargo, el estado taxonómico de algunas ha sido cuestionado. El objetivo de este estudio es aclarar la validez de las especies americanas incluidas en el género. Para ello, se analizaron ejemplares tipo o de referencia de todas las especies, depositados en 6 colecciones científicas, mediante estudios morfométricos y ultraestructurales. Con base en rasgos diagnósticos como especificidad hospedatoria, sitio de infección, dimensiones corporales, espinas cuticulares (número de puntas, densidad, forma y distribución, presencia de uno ó dos tapones polares en los huevos, así como morfología de la bursa, patrón papilar y de la cubierta de los huevos, se re-establece a Gnathostoma socialis (Leidy, 1858 y se confirma la validez de otras 6 especies: Gnathostoma turgidum Stossich, 1902, Gnathostoma americanum Travassos, 1925, Gnathostoma procyonis Chandler, 1942, Gnathostoma miyazakii Anderson, 1964, Gnathostoma binucleatum Almeyda-Artigas, 1991 y Gnathostoma lamothei Bertoni-Ruiz, García-Prieto, Osorio Sarabia y León-Règagnon, 2005. Gnathostoma didelphis Chandler, 1932 y Gnathostoma brasiliensis Ruiz, 1952 son consideradas sinónimos de G. turgidum. Basados en una amplia revisión de material depositado en 6 colecciones Americanas, se invalidan los registros de Gnathostoma spinigerum Owen, 1836 en America.

  10. Contracaecumovale (Nematoda: Anisakidae) from Rollandia rolland Quoy & Gaimard 1824 (Aves, Podicipedidae) in Argentina Contracaecumovale (Nematoda: Anisakidae) de Rollandia rolland Quoy & Gaimard 1824 (Aves, Podicipedidae) na Argentina

    OpenAIRE

    Noelia Adelina Galeano; Ruben Daniel Tanzola

    2012-01-01

    Necropsy on 15 specimens of white-tufted grebe, Rollandiarolland, caught in the Mar Chiquita and Chascomús lagoons (Buenos Aires province), revealed the presence of Contracaecumovale (Linstow, 1907). This nematode shows a marked specificity for podicipediform birds. The specimens were identified from morphological study on features such as cephalic and esophageal structures and caudal papillae, using both optical and scanning electron microscopy. This is the first record of C. ovale parasitiz...

  11. KEEFEKTIFAN LIMBAH TANAMAN BRASSICACEAE UNTUK PENGENDALI NEMATODA PURU AKAR (MELOIDOGYNE SPP. PADA MIKROPLOT DI LAPANGAN

    Directory of Open Access Journals (Sweden)

    Muhammad Jabal Nur

    2016-09-01

    Full Text Available Effectivenes of Brassicaceae plant wastes to control the root knot nematodes (Meloidogyne spp. at a field microplot scale. Meloidogyne spp. is a soil borne pathogen that infects plant roots and causes root galls. Root knot nematodes can reduce crop production by 15 to 95%, so that the control measures are needed. One of the control methods is using plants as biofumigant. Plants of the family Brassicaceae were reported contain glucosinolate (GSL. During decomposition, GSL is hydrolized to isothiocyanates (ITS which is a highly toxic compound to soil organisms, including nematodes. The research objective was to determine the effectiveness of five Brassicaceous plant wastes, namely cabbage (B. oleracea var capitata, radish (Raphanus sativus, broccoli (B. oleracea var italica, chinese cabbage (B. chinensis and pakcoy (B. rapa var parachinensis to suppress root knot nematodes (RKN. The experiment was conducted on microplot scale in the field. The experimental design used was a 4x5 factorial CRD. The first factors are waste of Brassica and the second factors are the amount of Brassica wastes per microplot. The experiments were made in 6 replications. Application of 5 Brassica plant wastes at all doses tested effectively reduced the number of root knot by 45.65% to 94.43% and increased the average number of tomato fruits. Tomato plants grew better at microplots when treated with chinese cabbage and pakcoy wastes.

  12. Toxocara cati (Nematoda: Ascarididae in Didelphis albiventris (Marsupialia: Didelphidae from Brazil: a case of pseudoparasitism

    Directory of Open Access Journals (Sweden)

    Hudson Alves Pinto

    2014-12-01

    Full Text Available Eggs of Toxocara cati were found in the feces of Didelphis albiventris from a peridomestic urban environment in Brazil. Negative fecal tests following short-term captivity of the opossums, as well as the absence of ascaridids during necropsy, suggest the occurrence of pseudoparasitism. Implications of the findings for the epidemiology of toxocariasis are discussed.

  13. Primer registro de Serratospiculum tendo (Nematoda: Diplotriaenidae para el Perú

    Directory of Open Access Journals (Sweden)

    Luis A. Gomez-Puerta

    2014-05-01

    Full Text Available Reportamos por primera vez la presencia del nematodo, Serratospiculum tendo Nitzsch, 1819, parasitando los sacos aéreos de un halcón peregrino (Falco peregrinus Tunstall, 1771. Seis nematodos (2 machos y 4 hembras fueron colectados e identificados como S. tendo. El hallazgo de este nematodo constituye el primer registro en el Perú.

  14. Oncholaimus zhangi sp. nov. (Oncholaimidae, Nematoda) from the intertidal zone of the East China Sea

    Science.gov (United States)

    Gao, Qun; Huang, Yong

    2017-09-01

    A new species of free-living marine nematode is described from intertidal sediment of the East China Sea. The new species belongs to the Oncholaimidae family. Oncholaimus zhangi sp. nov. is characterized by males having a large ventral swelling situated just posterior to the middle of the tail, no precloacal papilla, and a row of 6-7 ventral genital setae. The tails of both males and females are similar, being conico-cylindrical in shape. The new species is distinguished from other closely related species by the presence of a prominent ventral swelling at the tail of males and a similar tail shape in both sexes. About 110 valid species in this genus have been recorded to date.

  15. Litomosoides silvai (Nematoda: Onchocercidae parasitizing Akodon montensis (Rodentia: Cricetidae in the southern region of Brazil

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    Lucas Trevisan Gressler

    2017-10-01

    Full Text Available Abstract In the present study, Litomosoides silvai parasitizing Akodon montensis in the southern region of Brazil is reported for the first time. New morphological information is provided for some structures of this nematode species, such as a flattened cephalic extremity, presence of two dorsal cephalic papillae, female tail with a constriction at its tip, “s” shaped vagina, spicules characteristic of the carinii species group and microfilaria tail constricted at the tip. This nematode was found parasitizing the thoracic cavity with a prevalence of 10% (2/20, mean intensity of 4 (6/2, mean abundance of 0.4 (8/20 and range of infection of 2-6 specimens per host, in southern Brazil. This occurrence of L. silvai in A. montensis is a new geographical record for southern Brazil, in the Upper Paraná Atlantic Forest ecoregion of the northwestern region of Rio Grande do Sul, which is part of the Atlantic Forest biome.

  16. Trichinella patagoniensis n. sp. (Nematoda), a new encapsulated species infecting carnivorous mammals in South America.

    Science.gov (United States)

    Krivokapich, Silvio J; Pozio, Edoardo; Gatti, Graciana M; Prous, Cinthia L Gonzalez; Ribicich, Mabel; Marucci, Gianluca; La Rosa, Giuseppe; Confalonieri, Viviana

    2012-09-01

    Until a few years ago, Trichinella spiralis was the only taxon of the genus Trichinella detected in both domestic and wild animals of South America. Recently, a new genotype, named Trichinella T12, was identified in cougars (Puma concolor) from Argentina, on the basis of molecular studies using mitochondrial and nuclear ribosomal markers. In the present study, cross-breeding experiments indicated that Trichinella T12 is reproductively isolated from all other encapsulated Trichinella spp. and suggested that it is biologically more similar to Trichinella britovi and Trichinella murrelli than to the other encapsulated species/genotypes. Biological assays revealed that the reproductive capacity index of Trichinella T12 was ~4 and >2000 times lower than those of T. spiralis in mice and rats, respectively. The reproductive capacity index of Trichinella T12 in domestic pigs ranged from 0.0 to 0.05. Larvae parasitising the muscles of carnivores were infective to mice after freezing at -5°C for 3 months, but they lost infectivity after freezing at -18°C for 1 week. The region within the rDNA, known as the expansion segment V, showed a unique sequence which differs from those of all other known Trichinella spp./genotypes. The biological, geographical and molecular data support the classification of the genotype Trichinella T12 as a new species widespread in the Neotropical region, for which we propose the name Trichinella patagoniensis n. sp. Copyright © 2012 Australian Society for Parasitology Inc. Published by Elsevier Ltd. All rights reserved.

  17. The diet of Enoplus brevis (Nematoda) in a supralittoral salt marsh of the North Sea

    Science.gov (United States)

    Hellwig-Armonies, Monika; Armonies, Werner; Lorenzen, Sievert

    1991-09-01

    The gut content of nearly 2000 specimens of Enoplus brevis was quantitatively analysed. E. brevis is an opportunistic omnivore. Main food categories found were cyanobacteria, diatoms, oligochaetes, nematodes, and rotifers. With a few exceptions, the diet of females and males was identical. Predominantly, juveniles fed on cyanobacteria and adults on animal prey. Experiments revealed that living oligochaetes are attacked and preyed upon. The quantities of the food categories eaten by Enoplus varied according to their ambient abundance, both temporarily and spatially on a small scale. At least the nematode prey was strongly selected: some species were significantly preferred and others avoided.

  18. Rhinella marina (Amphibia: Bufonidae) Versus Rhabdias paraensis (Nematoda: Rhabdiasidae): Expanding the View on a Natural Infection.

    Science.gov (United States)

    Santos, Jeannie Nascimento Dos; da Silva, Djane Clarys Baia; Feitosa, Lucas Aristóteles das Neves; Furtado, Adriano Penha; Giese, Elane Guerreiro; de Vasconcelos Melo, Francisco Tiago

    2016-06-01

    Amphibian and reptile lungs are frequently infected with Rhabdias parasites, and this condition ultimately leads to reduced survival, performance, and growth because of granulomatous inflammation, nodule formation, and nematodal pneumonia onset. Here we investigate the histopathological features of naturally infected Rhinella marina by the lung nematode Rhabdias paraensis. A total of 10 host animals were captured in peridomiciliar areas in the eastern Brazilian Amazon, and anatomic-histological analyses were performed on both the infected and non-infected lungs of these amphibians. Helminths were usually found within the secondary and primary septa of infected lungs whereas parasites were not detected within vessels or adhering to tissues. In addition, we observed discrete erythrocytes, diapedesis foci, few granulocytes and erythrocytes in the interseptal spaces, discrete cell infiltration, and a small number of melanomacrophages, and no granulomas or cysts were observed. New aspects related to changes in tissue and helminth-host interactions are discussed for the relationship of R. paraensis × Rhi. marina from the Amazon region.

  19. Foleyellides rhinellae sp. nov. (Nematoda, Onchocercidae) a new filaria parasitizing Rhinella marina (Anura, Bufonidae) in Mexico.

    Science.gov (United States)

    García-Prieto, Luis; Ruiz-Torres, Nallely; Osorio-Sarabia, David; Merlo-Serna, Aldo

    2014-09-01

    A new nematode species, Foleyellides rhinellae sp. nov. (Onchocercidae), is described from specimens found in the body cavity of the cane toad, Rhinella marina (Linnaeus) (Anura, Bufonidae), in the Laguna de Coyuca, Guerrero, in the Pacific slope of Mexico. The new species differs from the other nine species of Foleyellides by infecting bufonid anurans and by the number and arrangement of caudal papillae. Other distinguishing feature of the new species is the size of the left spicule (0.16-0.23 long), the smallest recorded among the species included in the genus. Foleyellides rhinellae sp. nov. is the second known species of the genus recorded from amphibians of Mexico.

  20. Thubunaea eleodori sp. nov. (Nematoda: Physalopteridae) from Liolaemus eleodori (Sauria: Liolaemidae) from Argentina.

    Science.gov (United States)

    Ramallo, Geraldine; Goldberg, Stephen; Bursey, Charles; Castillo, Gabriel; Acosta, Juan Carlos

    2017-01-01

    Thubunaea eleodori sp. nov. is described from the stomach of Liolaemus eleodori (Sauria: Liolaemidae) from San Guillermo National Park, Province of San Juan, Argentina. T. eleodori is most similar to those species lacking spicules, T. cnemidophorus, T. fitsimonsi, T. parkeri, T. schukurovi, and T. smogorzhewskii. T. eleodori is separated from these species based on the papilla pattern. T. eleodori has 12 pedunculate papillae and 14 sessile papillae, T. smogorzhewskii lacks pedunculate papillae, T. fitsimonsi and T. parkeri lack sessile papillae, and T. cnemidophorus has14-16 pedunculate papillae and 12 sessile papillae. T. eleodori represents the first member of the genus to be reported from Argentina.

  1. Komunitas Nematoda pada Tanaman Kopi (Coffea Canephora Var. Robusta Muda di Kabupaten Tanggamus Lampung

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    I GEDE SWIBAWA

    2015-09-01

    Full Text Available The Community of Nematode in The Young Coffee ( Coffea Canephora Var. Robusta Crops in Tanggamus District, Lampung. Tanggamus district is one of coffee production center in Lampung province. Since year of 2013, farmers in Tanggamus have been replaced the unproductive old coffee by coffee seed introduced from East Java. Introducing coffe seed from outside area at risk of carrying plant parasitic nematodes. The purpose of this research was to study community of nematode associated with young coffee crops in Tanggamus. Survey was conducted in coffee robusta (Coffea canephora var. robusta fields belonging to farmer on September 2014. Soil samples were collected from three sites: Margo Mulyo, Sumber Rejo and Batu Bedil. Nematodes were extracted by sieving and centrifugation with sugar solution method. The results show that were 20 genera consisted of 9 genera of plant parasitic and 11 genera of free living nematodes associated with young coffee in Tanggamus. The nematode community was dominated by Pratylenchus and Radopholus. The population of Pratylenchus and Radopholus in Sumber Rejo site were 421 and 846 individual per 300 ml of soil respectively. It was needed to indentify up to species taxonomic level for Pratylenchus and Radopholus associated with young coffee in Tanggamus.

  2. KEANEKARAGAMAN NEMATODA DALAM TANAH PADA BERBAGAI TIPE TATAGUNA LAHAN DI ASB-BENCHMARK AREA WAY KANAN

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    I Gede Swibawa

    2011-10-01

    Full Text Available The soil nematode diversity in several land-use types in Way Kanan ASB-Benchmark Area.  The conversion  of forest to intensive agroecosystem such as monoculture system reduces biodiversity of the plant, herbivore, and decomposer subsystems.   Those changes affected  the litter and plant root quality.  Consequently, few soil nematode species could be dominant and cause of disturbance of the stability of the below ground  community.   The increasing  populations of plant parasitic nematodes usually occur on monoculture system .   The research was conducted to study the effect of forest changes in several land use types on soil nematode diversity in Way Kanan Benchmark Area.  Soil sampling on five land use types (secondary forest,  agroforest or tree based agriculture, plantation, cassava field, and Imperata grass land was conducted in November1996 and December 1997.   Nematodes  were extracted by decantation-centrifugation with sugar method.  The soil  nematodes were grouped into order and generic level including plant parasitic and  non- parasitic. The results show that the order of  Rhabditida, Dorylaimida, and Tylenchida were found from  those five land-use types.  The total genera of  plant parasitic nematodes in Imperata grass land were the highest among the other four land use types.  The total number of  non-plant parasitic nematodes in secondary forest (28.0 individual per 300 cc of soil was higher than total number in the plantation ( 2.6 individual per 300 cc of soil, cassava field (4.0 individual per 300 cc of soil or Imperata grass land (6.6 individual per 300 cc of soil.  The total number of  plant parasitic nematodes in Imperata grass land (59.8 individual per 300 cc of soil, agroforest (59.0 individual per 300 cc of soil, secondary forest (48.2 individual per 300 cc of soil, and  plantation (17.6 individual per 300 cc of soil were not significantly different, but  total number in Imperata grass land and  agroforest  were significantly  higher than that in cassava field (11,6 individual per 300 cc of soil.

  3. Changes in the viability of Strongyloides ransomi larvae (Nematoda, Rhabditida under the influence of synthetic flavourings

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    A. A. Boyko

    2017-01-01

    Full Text Available One of the most common nematodes of pigs globally is Strongyloides ransomi Schwartz and Alicata 1930. It usually causes aggravation of physiological indicators of its hosts and damage to their immune system. Also it is a good modelling object for the evaluation of the antiparasitic activity of new antihelminthic drugs. We conducted laboratory experiments to assess the effect of flavouring additives with flower odour (benzaldehyde, citral, D-limonene and β-ionone upon the viability of S. ransomi larvae. The mortality rate was calculated for 24 hours exposure at four concentrations of each substance (10, 1, 0.1 и 0.01 g/l with eight replications. The lowest LD50 values were obtained for citral (97 mg/l and benzaldehyde (142 mg/l. These substances are recommended for further evaluation of their antihelminthic effect in experiments using laboratory animals. Unlike other substances, the effect of β-ionone and D-limonene even at a concentration of 10 g/l after 24 hours caused the death of <50% of S. ransomi larvae. The study of flavouring additives with flowery odour, which are permitted to be used in food for humans and also to be used in cosmetics, is a promising field for research aimed at the development of new antiparasitic drugs.

  4. Effect of some saprotrophic soil fungi on the embryonic development of Ascaris suum (Nematoda

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    Wanda Kuźna-Grygiel

    2014-08-01

    Full Text Available Effect of Penicillium frequentans and Stachybotrys chartorum fungi on the embryonic development of Ascaris suum were studied in the present paper. In eggs that were incubated with fungi, significant delay of initiation of zygote division, as well as retardation of the development of individual stages of embryogenesis, was given a closer insight. Additionally, the following phenomena were observed: vacuolisation of zygote and disturbances in the distribution of yolk, non-synchronous and unequal divisions of blastomere, deformations of the blastula, gastrula, and larval stages. The above changes were more distinct in eggs that were incubated with P. frequentans. In the cultures with P. frequentans, a significantly lower number of larvac, as well as their earlier mortality were observed.

  5. Infeksi Cacing Nematoda Pada Usus Halus Babi di Lembah Baliem dan Pegunungan Arfak Papua

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    I Nyoman Wijaya Guna

    2014-08-01

    Full Text Available The purpose of this study was to identify the nematode of the small intestine of pigs in Arfak Mountains and Baliem Valley in Papua, and determine the prevalence of the nematode infection. Small intestine content of 20 pigs originated from Arfak Mountains and 10 pigs from Baliem Valley were examined to identify the nematode species. Four species of nematodes were found in small intestine of pigs namely, Strongyloides ransomi, Ascaris suum, Macracanthorhyncus hirudinaceus, and Globocephalus urosubulatus. The result of the study showed that the prevalence of nematode infections in small intestine  were highly, in which the Baliem Valley had the prevalence of 90%, and 40% in Arfak Mountains.

  6. Zoonotic Dirofilaria repens (Nematoda: Filarioidea) in Aedes vexans mosquitoes, Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Rudolf, Ivo; Šebesta, Oldřich; Mendel, Jan; Betášová, Lenka; Bocková, E.; Jedličková, Petra; Venclíková, Kristýna; Blažejová, Hana; Šikutová, Silvie; Hubálek, Zdeněk

    2014-01-01

    Roč. 113, č. 12 (2014), s. 4663-4667 ISSN 0932-0113 EU Projects: European Commission(XE) 261504 - EDENEXT Institutional support: RVO:68081766 Keywords : Aedes vexans * Mosquito vectors * Dirofilaria repens * Dogs * Zoonotic dirofilariosis * Setaria spp. Subject RIV: EG - Zoology Impact factor: 2.098, year: 2014

  7. Neoalloionema indicum n.sp. (Nematoda: Alloinematidae), a new alloionematid from India

    Czech Academy of Sciences Publication Activity Database

    Nermuť, Jiří; Půža, Vladimír; Mráček, Zdeněk

    2016-01-01

    Roč. 18, č. 8 (2016), s. 949-962 ISSN 1388-5545 Institutional support: RVO:60077344 Keywords : Alloionema appendiculatum * Neoalloionema tricaudatum * molecular Subject RIV: EG - Zoology Impact factor: 1.162, year: 2016

  8. Description and developmental biology of the predatory diplogastrid Acrostichus nudicapitatus (Steiner, 1914 Massey, 1962 (Nematoda: Rhabditida

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    Ahlawat S.

    2016-06-01

    Full Text Available Acrostichus nudicapitatus (Steiner, 1914 Massey, 1962 is redescribed and illustrated along with observations on its developmental biology. Most morphometrics of the present population agree well with those of A. nudicapitatus (Steiner, 1914 Massey, 1962. The largely oviparous females of A. nudicapitatus lay eggs in single-celled or two-celled stage, 1.5 – 2 h after fertilization. In cultured females, the uterine tract was observed to accommodate occasionally as many as 4 – 6 eggs. The eggs are smooth-shelled, oval in shape measuring 45 – 48 x 23 – 26 μm in dimension. The pole of entry of sperm marks the posterior end of the developing embryo. The embryonation time has been recorded to be 20 – 25 h at 25 ± 2 °C. The first moult occurs inside the egg and the juvenile hatches as second stage juvenile. The gonad development follows the trends found in most rhabditids, however, three prime cells of the 12 vulval precursor cells have been observed to be involved in vulva formation.

  9. Ophidascaris durissus sp. nov. (Nematoda Ascarididae parasitizing Crotalus durissus Linnaeus (Ophidia, Viperidae in Brazil

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    Marcia Helena Martins Panizzutti

    2003-03-01

    Full Text Available The species Ophidascaris durissus sp. nov. is proposed with basis on specimens recovered from the rattlesnake Crotalus durissus L., 1758 (type host captured in Foz do Iguaçu, Brazil (type locality. By the lack of interlabia, the new species can be compared only to O. natricis Yamaguti, 1935 from Japan and O. freitasi Hoa & Lien, 1970, from Vietnam. However, O. durissus sp. nov. differs from O. natricis mainly by the absence of internal lip papillae, location of the vulvar aperture and length of the spicules; from O. freitasi mostly by the greater number of pre-cloacal and distribution of post-cloacal papillae.

  10. Longidorus carniolensis sp. n. (Nematoda, Longidoridae from vineyard soil in Slovenia

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    Saša Širca

    2011-10-01

    Full Text Available A new needle nematode, Longidorus carniolensis sp. n., recovered from the soil around the roots of grapevine Vitis vinifera L. from Slovenia, is described and illustrated. Longidorus carniolensis is an amphimictic species, characterised by females with a moderately long (L=5.6–8.2 mm and plump (a=51–72.4, ave. 66.3 body, assuming a spiral to C-shape when heat relaxed. Head region continuous, anteriorly almost flat, lip region 23–25 µm wide; guiding ring situated posteriorly (42–47 µm, 43–50 µm in males, odontostyle long (ave. 146.6 (136–157 µm; pharyngeal glands with normal location, their nuclei of approximately equal size; tail bluntly conoidal to almost hemispherical. Males abundant, spicules slender and long (122–145 µm, ventromedian supplements 13–17, irregularly spaced, preceded by an adanal pair. Four juvenile stages present, the first stage juvenile with bluntly conoidal tail. Codes for identifying the new species when using the key by Chen et al. (1997 are: A 56, B 4, C 4, D 1, E 4, F 35, G 1, H 1, I 2. The new species is morphologically the most similar to L. poessneckensis Altherr, 1974, L. macrosoma Hooper, 1961, L. caespiticola Hooper, 1961, L. helveticus Lamberti et al., 2001, L. macroteromucronatus Altherr, 1974, L. pius Barsi et Lamberti, 2001, L. raskii Lamberti et Agostinelli, 1993, L. kheirii Pedram et al, 2008, L. silvae Roca, 1993, L. iuglandis Roca et al., 1985, L. vinearum Bravo et Roca, 1995 and L. major Roca et d’Erico, 1987, but differs from these species either by the body and odontostyle length, position of guide ring, head region and tail shape or the shape of the first stage juvenile tail. Sequence data from the D2-D3 region of the 28S rDNA distinguishes this new species from other species of the genus Longidorus with known sequences. Relationships of L. carniolensis sp. n. with other Longidorus species based on analysis of this DNA fragment and morphology are discussed.

  11. Transcriptomic analysis of the rice white tip nematode, Aphelenchoides besseyi (Nematoda: Aphelenchoididae.

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    Feng Wang

    Full Text Available BACKGROUND: The rice white tip nematode Aphelenchoides besseyi, a devastating nematode whose genome has not been sequenced, is distributed widely throughout almost all the rice-growing regions of the world. The aims of the present study were to define the transcriptome of A. besseyi and to identify parasite-related, mortality-related or host resistance-overcoming genes in this nematode. METHODOLOGY AND PRINCIPAL FINDINGS: Using Solexa/Illumina sequencing, we profiled the transcriptome of mixed-stage populations of A. besseyi. A total of 51,270 transcripts without gaps were produced based on high-quality clean reads. Of all the A. besseyi transcripts, 9,132 KEGG Orthology assignments were annotated. Carbohydrate-active enzymes of glycoside hydrolases (GHs, glycosyltransferases (GTs, carbohydrate esterases (CEs and carbohydrate-binding modules (CBMs were identified. The presence of the A. besseyi GH45 cellulase gene was verified by in situ hybridization. Given that 13 unique A. besseyi potential effector genes were identified from 41 candidate effector homologs, further studies of these homologs are merited. Finally, comparative analyses were conducted between A. besseyi contigs and Caenorhabditis elegans genes to look for orthologs of RNAi phenotypes, neuropeptides and peptidases. CONCLUSIONS AND SIGNIFICANCE: The present results provide comprehensive insight into the genetic makeup of A. besseyi. Many of this species' genes are parasite related, nematode mortality-related or necessary to overcome host resistance. The generated transcriptome dataset of A. besseyi reported here lays the foundation for further studies of the molecular mechanisms related to parasitism and facilitates the development of new control strategies for this species.

  12. Rhabditid species (Nematoda, Rhabditida recorded in peninsular Spain and Balearic Islands

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    Abolafia, Joaquín

    2001-06-01

    Full Text Available Previous records of species belonging to the order Rhabditida in peninsular Spain and Balearic Islands is presented as compilation. Eighty species of forty genera and twelve families are listed. Information concerning each species contains scientific name, synonymy, distribution and remarks. Distributional data include localities and/or geographical areas where the species have been collected and the corresponding references. A short discussion on current knowledge on rhabditid nematodes in the Iberian geography is also made. Majority of species are defficiently known, being necessary additional taxonomic and/or faunistic studies of this taxon.

    Se presenta una recopilación de citas previas de especies pertenecientes al orden Rhabditida en la España peninsular e Islas Baleares. Se listan ochenta especies de cuarenta géneros y doce familias. La información que concierne a cada especie contiene el nombre científico, sinonimia, distribución y observaciones. Los datos de distribución incluyen las localidades y/o áreas geográficas donde las especies han sido recolectadas, y las referencias correspondientes. También se realiza una breve discusión sobre el conocimiento de los nematodos rhabdítidos en el área ibérica, concluyéndose que la mayor parte de las especies se conocen deficientemente, siendo necesario un estudio taxonómico y/o faunístico adicional del taxon.

  13. PENGARUH INFESTASI NEMATODA Pratylenchus TERHADAP PERTUMBUHAN TANAMAN NENAS [Ananas comosus (L. Merr.

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    I Gede Swibawa , Irma Amaliah, Titik Nur Aeny

    2011-10-01

    Full Text Available Pratylenchus is an important parasitic nematode on pineapples in the world.  This plant parasitic nematodes may cause severe damages on roots, resulted in retarded plant growth.  The experiment consisted of four Pratylenchus population levels per plant with 4 replications.  The experiment was conducted on June to September 1999, on PT. Great Giant Pineapple Company (GGPC in Central Lampung District.  The aim of the research was to study the nematode population effects on root damages and plant growth.  The result showed that smooth cayenne variety was a favorable host of Pratylenchus.  Rapid rate of nematode population occurred in three months.  The root damage of infested plant with as much as 100 - 300 nematodes per plant was up to 20.39 - 31.72 percent and caused canopy wet weight was a half lower than those untreated plant.

  14. Molecular characterization of Thelazia lacrymalis (Nematoda, Spirurida) affecting equids: a tool for vector identification.

    Science.gov (United States)

    Traversa, Donato; Otranto, Domenico; Iorio, Raffaella; Giangaspero, Annunziata

    2005-08-01

    Equine thelaziosis caused by the eyeworm Thelazia lacrymalis is a parasitic disease transmitted by muscid flies. Although equine thelaziosis is known to have worldwide distribution, information on the epidemiology and presence of the intermediate hosts of T. lacrymalis is lacking. In the present work, a PCR-RFLP based assay on the first and/or second internal transcribed spacer (ITS1 and ITS2) of ribosomal DNA was developed for the detection of T. lacrymalis DNA in its putative vector(s). The sensitivity of the technique was also assessed. The restriction patterns obtained readily differentiated T. lacrymalis from four species of Musca (Diptera, Muscidae) (i.e. Musca autumnalis, Musca domestica, Musca larvipara and Musca osiris), which are potential vectors of equine eyeworms. The molecular assay presented herein is a useful tool to identify the intermediate host(s) of T. lacrymalis in natural conditions and to study its/their ecology and epidemiology.

  15. Molecular and morphological comparison of two different types of Habronema muscae (Nematoda: Habronematidae) in horse.

    Science.gov (United States)

    Rakhshandehroo, Ehsan; Sharifiyazdi, Hassan; Shayegh, Hossein; Ahmadi, Amin

    2014-12-01

    Habronema muscae is a spirurid nematode that undergoes developmental stages in the stomach of equids, causing chronic catarrhal gastritis. Despite preceding investigations have developed polymerase chain reaction (PCR)-based assays for molecular diagnosis, we aimed to assess the applicability of cytochrome c oxidase subunit 1 (cox1) sequences to identify the H. muscae infection and to assess the level of intraspecific variations in this parasite obtained from affected horses in Southern Iran. According to the morphological characterizations, two different isolates of H. muscae were identified. Although the majority of the recovered specimens had normal characterizations of H. muscae, a number of parasites showed an abnormal feature as large, asymmetrical, and thick cuticular extensions was observed at their anterior end (head region) in gross and histologic examinations. Unexpectedly, molecular assay disclosed that both morphologically distinct samples were completely identical to each other based on cox1 sequence. Multiple alignment of the cox1 amino acid sequences showed that all polymorphism sites were silent. Also, phylogenetic analysis provided strong support that H. muscae form a sister group to Spirocerca lupi and Thelazia callipaeda.

  16. Histopathology and the inflammatory response of European perch, Perca fluviatilis muscle infected with Eustrongylides sp. (Nematoda).

    Science.gov (United States)

    Dezfuli, Bahram S; Manera, Maurizio; Lorenzoni, Massimo; Pironi, Flavio; Shinn, Andrew P; Giari, Luisa

    2015-04-15

    The European perch, Perca fluviatilis L. is a common paratenic host of dioctophymatid nematodes belonging to the genus Eustrongylides. In this host, once infected oligochaetes, which serve as the first intermediate host, are ingested, Eustrongylides migrates through the intestine and is frequently encountered within the musculature, free within the body cavity, or encapsulated on the viscera. The current study details the first Italian record of Eustrongylides sp. with larvae reported in the muscle of P. fluviatilis. Uninfected and nematode-infected muscle tissues of perch were fixed and prepared for histological evaluation and electron microscopy. Some sections were subjected to an indirect immunohistochemical method using anti-PCNA, anti-piscidin 3 and anti-piscidin 4 antibodies. A total of 510 P. fluviatilis (TL range 15-25 cm) from Lake Trasimeno, Perugia were post-mortemed; 31 individuals had encysted nematode larvae within their musculature (1-2 worms fish(-1)). Histologically, larvae were surrounded by a capsule with an evident acute inflammatory reaction. Muscle degeneration and necrosis extending throughout the sarcoplasm, sarcolemmal basal lamina, endomysial connective tissue cells and capillaries was frequently observed. Within the encapsulating reaction, macrophage aggregates (MAs) were seen. Immunohistochemical staining with the proliferating cell nuclear antigen (PCNA) revealed numerous PCNA-positive cells within the thickness of the capsule and in the immediate vicinity surrounding Eustrongylides sp. larvae (i.e. fibroblasts and satellite cells), suggesting a host response had been initiated to repair the nematode-damaged muscle. Mast cells (MCs) staining positively for piscidin 3, were demonstrated for the first time in response to a muscle-infecting nematode. The piscidin 3 positive MC's were seen principally in the periphery of the capsule surrounding the Eustrongylides sp. larva. A host tissue response to Eustrongylides sp. larvae infecting the musculature of P. fluviatilis was observed. Numerous fibroblasts, MAs and MCs were seen throughout the thick fibroconnectival layer of the capsule enclosing larvae. PCNA positive cells within the capsule suggest that host repair of nematode damaged muscle does occur, while the presence of the antimicrobial peptide piscidin 3 is shown for the first time. This is first report of Eustrongylides sp. in an Italian population of P. fluviatilis.

  17. New species of Thelonema, Metasphaerolaimus, and Monhystrella (Nematoda, Monhysterida from Kermadec Trench, Southwest Pacific

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    Daniel Leduc

    2015-12-01

    Full Text Available Three new species of the order Monhysterida are described based on specimens obtained at depths of 8081 and 9177 m in the Kermadec Trench. Thelonema clarki sp. nov. is characterised by a large body size (3230–4461 µm, short cylindrical buccal cavity, gubernaculum without apophyses, and long conico-cylindrical tail. This is the first record of the genus since its original description over two decades ago from the Peru Basin. Metasphaerolaimus constrictus sp. nov. is characterised by a relatively long body (1232–1623 µm, slightly arcuate spicules without gubernaculum, and conico-cylindrical tail with inner cuticle conspicuously thickened immediately anterior to cylindrical portion. Monhystrella kermadecensis sp. nov. is characterised by a circle of papillose outer labial sensillae slightly anterior to the four short cephalic setae, gubernaculum with caudal apophyses, the presence of distinct cuticularised piece along anterior vaginal wall, and a relatively short conical (males or conico-cylindrical tail (females with conical, ventrally-curved spinneret. M. kermadecensis sp. nov. can be differentiated from all other species of the genus, and, indeed, the entire family, based on the variable position of the anterior gonad relative to the intestine. The new species is classified within the Monhysteridae, and not the closely-related Xyalidae, based on the small body size, a smooth cuticle, and the presence of six outer labial papillae and only one testis. Further work is required to clarify the placement of M. kermadecensis sp. nov. relative to other monhysterid genera. A tabular key to all ten valid Metasphaerolaimus species is presented.

  18. Cattiena fansipanis n. sp. (Nematoda: Rhigonematida: Carnoyidae) from a millipede (Myriapoda: Diplopoda: Spirobolida) in North Vietnam.

    Science.gov (United States)

    Malysheva, Svetlana V; Van Luc, Pham

    2012-02-01

    A new species of Cattiena Hunt & Spiridonov, 2001 from a diplopod (Spirobolida: Pseudospirobolellidae Brolemann) collected near Sa Pa, Lao Cai Province, Vietnam, is described. Females of Cattiena fansipanis n. sp. are closely related to females of two other known species of the genus, C. trachelomegali Hunt & Spiridonov, 2001 and C. trigoniuli Hunt & Spiridonov, 2001, but can be distinguished by the distinctly more anterior position of the vulva, abrupt constriction of the body at the vulval level, presence of two swollen portions of the oviducts, and longer body and tail. Males of new species differ by having a rounded cephalic region followed by 13-14 annules which are larger than those which follow them, a different size and shape of the spicules and gubernaculum, and body and tail length. Three size groups of juveniles were found in the host gut lumen, presumably representing second, third and fourth juvenile stages. The morphology of the juvenile stages is described.

  19. The mitochondrial genomes of the human hookworms, Ancylostoma duodenale and Necator americanus (Nematoda: Secernentea).

    Science.gov (United States)

    Hu, Min; Chilton, Neil B; Gasser, Robin B

    2002-02-01

    The complete mitochondrial genome sequences were determined for two species of human hookworms, Ancylostoma duodenale (13,721 bp) and Necator americanus (13,604 bp). The circular hookworm genomes are amongst the smallest reported to date for any metazoan organism. Their relatively small size relates mainly to a reduced length in the AT-rich region. Both hookworm genomes encode 12 protein, two ribosomal RNA and 22 transfer RNA genes, but lack the ATP synthetase subunit 8 gene, which is consistent with three other species of Secernentea studied to date. All genes are transcribed in the same direction and have a nucleotide composition high in A and T, but low in G and C. The AT bias had a significant effect on both the codon usage pattern and amino acid composition of proteins. For both hookworm species, genes were arranged in the same order as for Caenorhabditis elegans, except for the presence of a non-coding region between genes nad3 and nad5. In A. duodenale, this non-coding region is predicted to form a stem-and-loop structure which is not present in N. americanus. The mitochondrial genome structure for both hookworms differs from Ascaris suum only in the location of the AT-rich region, whereas there are substantial differences when compared with Onchocerca volvulus, including four gene or gene-block translocations and the positions of some transfer RNA genes and the AT-rich region. Based on genome organisation and amino acid sequence identity, A. duodenale and N. americanus were more closely related to C. elegans than to A. suum or O. volvulus (all secernentean nematodes), consistent with a previous phylogenetic study using ribosomal DNA sequence data. Determination of the complete mitochondrial genome sequences for two human hookworms (the first members of the order Strongylida ever sequenced) provides a foundation for studying the systematics, population genetics and ecology of these and other nematodes of socio-economic importance.

  20. Resistance of Trichostrongylus spp. (Nematoda) to benzimidazole in Algerian cattle herds grazed with sheep.

    Science.gov (United States)

    Bentounsi, Bourhane; Khaznadar, Ahmed; Cabaret, Jacques

    2012-02-01

    Drug resistance in cattle strongyles to anthelmintics is rarely described in Europe and in the Mediterranean areas. The faecal egg counts are usually low in cattle, and detection of resistance may be particularly difficult. We used the method of twice-repeated treatments and used various estimations of efficacies in order to detect cattle strongyle resistance to benzimidazoles. Resistance was found in two farms among eight that were studied. Trichostrongylus axei was the resistant species in one farm whereas Trichostrongylus sp. was found in another farm. In both farms, there were sheep flocks with a history of strongyle benzimidazole resistance and practice of alternate or mixed grazing with cattle.

  1. Phylogeography of Angiostrongylus cantonensis (Nematoda: Angiostrongylidae in southern China and some surrounding areas.

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    Jian Peng

    2017-08-01

    Full Text Available Angiostrongylus cantonensis is of increasing public health importance as the main zoonotic pathogen causing eosinophilic meningitis or meningoencephalitis, which has been documented all over the world. However, there are very limited studies about its phylogeography and spread pattern. In the present study, the phylogeography of A. cantonensis in southern China (including Taiwan and partial areas of Southeast Asia were studied based on the sequences of complete mitochondrial cytochrome b (Cytb gene. A total of 520 individuals of A. cantonensis obtained from 13 localities were sequenced for the analyses and grouped into 42 defined haplotypes. The phylogenetic tree (NJ tree and BI tree revealed a characteristic distribution pattern of the four main lineages, with detectable geographic structure. Genetic differentiation among populations was significant, but demographic expansion could not be detected by either neutrality tests or mismatch distribution analysis, which implied a low gene flow among the local populations in different regions where the samples were collected. Two unique lineages of the A. cantonensis population in Taiwan were detected, which suggests its multiple origin in the island. Populations in Hekou (China and Laos showed the highest genetic diversities, which were supported by both genetic diversity indices and AMOVA. These results together infer that the area around Thailand or Hekou in Yunnan province, China are the most likely origins of Angiostrongylus cantonensis.

  2. Espécies de Thelaziinae (Skrjabin) Baylis & Daubney (Nematoda, Thelazioidea) referidas para o Brasil

    OpenAIRE

    Rodrigues, Henrique de Oliveira

    1996-01-01

    Twenty three species of Thelaziinae Skrjabin, 1915 were referred in Brazil. Hempelia hempeli Vaz, 1936, Thelazia anolabiata (Molin, 1860), T. aquilina Baylis, 1934, T. campanulata (Molin, 1858), T. iheringi Travassos, 1918 and T. travassosfreitasi Cristofaro & Rodrigues, 1979. That included in the Oswaldo Cruz Helminthological Collection were reviewed. Dryocopus lineatus lineatus (Linnaeus), Pipile cumanensis nattereri Reich and Ramphastus dicolorus Linnaeus are new host records for Thelazia ...

  3. Two new species of philometrids (Nematoda: Philometridae) from marine fishes off South Carolina

    Czech Academy of Sciences Publication Activity Database

    Moravec, František; de Buron, I.

    2009-01-01

    Roč. 95, č. 3 (2009), s. 722-727 ISSN 0022-3395 R&D Projects: GA ČR(CZ) GA524/06/0170; GA MŠk LC522 Institutional research plan: CEZ:AV0Z60220518 Keywords : Philometra * Philometroides * marine fish Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 1.195, year: 2009

  4. Alloionema californicum n. sp. (Nematoda: Alloionematidae): a new alloionematid from USA

    Czech Academy of Sciences Publication Activity Database

    Nermuť, Jiří; Půža, Vladimír; Mráček, Zdeněk; Lewis, E.

    2016-01-01

    Roč. 4184, č. 3 (2016), s. 505-516 ISSN 1175-5326 R&D Projects: GA MŠk LH12105 Institutional support: RVO:60077344 Keywords : Alloionema appendiculatum * Neoalloionema tricaudatum * ITS rDNA Subject RIV: EG - Zoology Impact factor: 0.972, year: 2016

  5. Mexiconema africanum sp. n. (Nematoda: Daniconematidae) from the catfish Auchenoglanis occidentalis from Lake Turkana, Kenya.

    Science.gov (United States)

    Moravec, Frantisek; Jirků, Miloslav; Charo-Karisa, Harrison; Masová, Sárka

    2009-10-01

    A new species of dracunculoid nematode, Mexiconema africanum sp. n. (Daniconematidae), is described from the abdominal cavity and the intestine (rarely also the gall bladder) of the catfish Auchenoglanis occidentalis (Valenciennes) (Claroteidae, Siluriformes) from Lake Turkana, Kenya. The new species differs from two other congeners mainly in the absence of two large cell nuclei in the glandular oesophagus, presence of well-developed lateral cephalic elevations, more numerous (14) cephalic papillae and a much longer body of the gravid female (18-22 mm); from Mexiconema cichlasomae Moravec, Vidal and Salgado Maldonado, 1992 also in less numerous (two) caudal processes and a different arrangement of genital papillae in the male. M. africanum is the first representative of the dracunculoid family Daniconematidae described from Africa.

  6. [Hysterothylacium petteri sp. n. (Nematoda: Ascaridata) from the Pacific Ocean swordfish].

    Science.gov (United States)

    Sheenko, P S

    1991-01-01

    Hysterothylacium petteri sp. n. was recovered from the stomach of Xiphias gladius occurring in the Kuroshio. The morphological difference of H. petteri from all other species of this genus is the extremely long ventricular caecum (two times more than pharynx). The species is very similar to H. corrugatum Deardorff et Overstreet, 1980 from swordfish off the American shores and corresponds to the description of Hysterothylacium sp. by Petter, Maillard, 1987. The third stage larvae of H. petteri sp. n. are probably those larval forms which were described as Contracaecum sp. l. Type IIA in Brunsdon in Boyle, 1966; Contracaecum sp. Otsuru et al.--type-B (Kikuchi et al.--type-A) in Kagei et al., 1970; Thynnascaris from Todarodes pacificus in Oshima, 1972; Contracaecum--type larva (B) in Shiraki, 1974; Hysterothylacium L3 in Weerasooriya et al., 1986; Porrocaecum sp. l. in Gaevskaya, Nigmatullin, Schuchhalter. New morphometric data on these larvae are given.

  7. Identifikasi Nematoda Sista Kuning (Globodera rostochiensis pada Kentang di Batu, Jawa Timur

    Directory of Open Access Journals (Sweden)

    Mulyadi Mulyadi

    2003-07-01

    Full Text Available Identification of Globodera rostochiensis was done based on the information given by the Direktorat Perlindungan Hortikultura, that the potato plants in the sub district of Bumiaji, Batu, East Java, were attacked by potato cyst nematode (Globodera. Plants and soil samples were taken from the potato's areas in the sub-district of Bumiaji, especially in the villages of Brakseng (± 1,700-1,800 m a.s.l, Tunggangan (± 1,600-1,700 m a.s.l, Kembangan (± 1,600-1.700 m a.s.l, and Junggo (± 1,200 m a.s.l. Based on morphological observations on eggs, larvae, females, and cysts, the nematode was identified as Globodera rostochiensis with special morphological characters: 1 second stage larvae vermifonn with total body length 531 - 563μ (x 548,4 μ, body width 22 - 26 μ (x 23,6u, stylet well developed with stylet knobs rounded, and part of the posterior portion hyaline in appearance; 2 cyst globular in shape with protruding neck, cyst's length 470 - 1,008 μ (x 638,08 μ, cyst's width 357 - 744 μ (x 490,33μ, and when the vulval basin is lost forming a single circular fenestra. Cuticle surface between anus and vulva basin have more than 12 paralel ridges.

  8. MEKANISME KETAHANAN KENTANG (SOLANUM TUBEROSUM TERHADAP NEMATODA SISTA KUNING (GLOBODERA ROSTOCHIENSIS

    Directory of Open Access Journals (Sweden)

    Dewi Fitriyanti, Mulyadi, dan Christanti Sumardiyono .

    2011-11-01

    Full Text Available Resistance mechanism of potato (Solanum tuberosum to golden cyst nematode (Globodera rostochiensis.  The research was conducted from June 2005 to May 2006 in Kepuhharjo, Cangkringan, Sleman, Yogyakarta. The aims of the research were to find the resistance status of 20 potato varieties, role of  chlorogenic acid and caffeic acid  in the resistance mechanism and histopathological differences between resistant and susceptible potato varieties to  G. rostochiensis. The results showed that two varieties were resistant to G. rostochiensis, i.e, Hertha and Manohara.  Thirteen varieties were moderately resistant, i.e; No.30, No.44, No. 5, No.19, Batang Hitam, Agria,  Desiree, Berolina, Atlantik, No.095, Cipanas, FLS and Colombus, and five varieties were susceptible, i.e; Kikondo, Granola, Erika, LBR, and Fries. The presence of chlorogenic acid and caffeic acid in Hertha (resistant variety and in Granola (susceptible variety were analized by TLC. In Hertha chlorogenic acid was detected at 4, 5, and 6 days after inoculation (DAI, whereas in Granola it was detected at 1 and 6 DAI. It was assumed that the presence of chlorogenic acid for 3 successively week in Hertha, caused it more resistant than Granola.  Cell lignification inhibited                       G. rostochiensis grow well inside the root tissue of Hertha, whereas in Granola only a few cell was lignified as indicated by less absorption of red colour (safranin in infected areas. Caffeic acid was not detected either in uninoculated or inoculated of both potato varieties.  It indicated that caffeic acid might not be naturally present in Hertha and Granola and nematode infection could not stimulate the production of this compound.

  9. Molecular arguments for considering Hysterothylacium fabri (Nematoda: Anisakidae) a complex of sibling species.

    Science.gov (United States)

    Martín-Sánchez, Joaquina; Díaz, Mónica; Artacho, M Elena; Valero, Adela

    2003-02-01

    The existence of sibling species is widespread among nematodes and the recognition of these has important epidemiological implications. In an attempt to establish whether this is the case for Hysterothylacium fabri, which is present in many Mediterranean fish species, we studied its genetic diversity and analysed its population structure. To do this, we used 266 fourth stage larvae of H. fabricollected from three different host species and used two different methods for characterising genetic variability: isoenzyme electrophoresis and RAPD. The four isoenzyme loci studied are polymorphic, with five or six alleles at each. Significant differences in the deviations from the Hardy-Weinberg law were detected, especially at the PGM locus. A total of 92.1% of the markers revealed by the RAPD technique were polymorphic, demonstrating a great diversity. The UPGMA dendrogram revealed the existence of four genetic groups. Values of Nei's genetic distance, gene flow and the existence of different fixed alleles, together with the deviations from the Hardy-Weinberg law detected in the isoenzyme study, suggest that H. fabri is a complex comprising at least three sibling species with little host specificity, at least in the case of the most abundant species.

  10. Description of Crassolabium persicum sp. n. (Nematoda, Dorylaimida, Qudsianematidae), an interesting species from Iran

    Science.gov (United States)

    Jabbari, Habibeh; Niknam, Gholamreza; Vinciguerra, Maria Teresa; Shalaleh Moslehi; Abolafia, Joaquín; Peña-Santiago, Reyes

    2012-01-01

    Abstract A new species of the genus Crassolabium, Crassolabium persicum sp. n., collected from Arasbaran rangelands of Iran, is described and illustrated. It is characterized by its body 1.92–2.40 mm long, lip region offset by constriction and 17–19 μm wide, odontostyle 16–19 μm long with aperture occupying less than one–third (27–30%) its length, neck 428–690 μm long, pharyngeal expansion 369–390 μm long or occupying 54–56% of total neck length, female genital system amphidelphic, uterus bipartite and 162–218 μm long or 2.3–3.5 times as long as body diameter, pars refringens vaginae well developed, V = 54–57.5, vulva longitudinal, prerectum bearing a blind sac, tail conical with rounded tip to conoid (25–36 μm, c=60–69, c’=0.5–0.9), spicules 68–72 μm long, precloacal pair of supplements far (22–27 μm) from cloacal aperture, and 13–17 shortly spaced ventromedian supplements with hiatus. The new taxon is compared in depth to its relatives in Crassolabium as well as other similar species of Aporcelaimellus and Amblydorylaimus. PMID:22773914

  11. Morphological and molecular characterization of Pratylenchus lentis n. sp. (Nematoda: Pratylenchidae) from Sicily.

    Science.gov (United States)

    Troccoli, A; De Luca, F; Handoo, Z A; Di Vito, M

    2008-09-01

    Pratylenchus lentis n. sp. parasitizing roots of lentil in Sicily, Italy, is described and illustrated. The new species is characterized by a relatively high lip region with three annuli, mean stylet length of 16 mum, with anteriorly flattened knobs, cylindrical body with a relatively anterior vulva, large and ovoid spermatheca full of sperm, plump tail with truncate, irregularly annulated terminus, and by the presence of males. Molecular ITS-RFLP and sequencing analyses of the new species showed clear differences from other most morphologically similar species, such as P. thornei and P. mediterraneus. Preliminary host range tests revealed that chickpea, pea, faba bean and durum wheat are good hosts of P. lentis n. sp., whereas common bean, alfalfa and barley are less robust hosts and tomato, bell pepper, eggplant, melon and sunflower are poor hosts for the nematode.

  12. Compatibility of entomopathogenic nematodes (Nematoda: Rhabditida with insecticides used in the tomato crop

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    Paulo Henrique de Siqueira Sabino

    2014-07-01

    Full Text Available Entomopathogenic nematodes (EPNs are agents that can be used for the biological control of pests associated with insecticides in a tank mix. Compatibility studies need to be conducted to analyze which products are compatible with nematodes. The aim of this work was to evaluate the compatibility between EPNs and the insecticides that are most used on the tomato crop, and to correlate the toxicological classification of the chemical products with two species of EPNs that have the potential to control tomato leaf miner, Tuta absoluta. Among the products tested, Certero (triflumuron, Decis (deltamethrin, Previcur (dimethylamino-propyl, Ampligo (lambdacyhalothrin + chlorantranilprole, Premio (clorantranilprole, Engeo Pleno (thiamethoxam + lambda-cyhalothrin were compatible (IOBC class 1 with both nematode species.

  13. Review of the ecology of sealworm, Pseudoterranova sp (p (Nematoda: Ascaridoidea in Icelandic waters

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    Droplaug Ólafsdóttir

    2001-11-01

    Full Text Available The early life cycle of sealworm in Icelandic waters is not known. Various fish serve as transport hosts but benthic coastal fish, especially bull rout (Myoxocephalus scorpius, probably have a major role in transmission of larvae to the final hosts, seals. Grey seals (Halichoerus grypus are more heavily infected with sealworm than common seals (Phoca vitulina and the grey seal population, estimated at 6,000, probably plays a larger role in the dynamics of the worm than the estimated 15,000 common seals. Other seals seem to play a small or insignificant role in sealworm dynamics in the area. Sealworm abundances in fish and final hosts are higher off the west coast than in other areas in Iceland. A combination of shallow, temperate waters, large numbers of small islands inhabited by numerous seals and grey seals’ consumption of heavily infected bull rout during the breeding season in autumn are important factors responsible for maintaining an abundance of sealworm in this area. Future research on sealworm in Iceland should focus on long term monitoring of worm abundance in all potential hosts in order to observe, interpret and predict possible changes, the dynamics of infections in fish frequently consumed by seals and on seasonal and spatial variations in worm fecundity.

  14. Pterygodermatites (Pterygodermatites) mexicana n. sp. (Nematoda: Rictulariidae), a parasite of Balantiopteryx plicata (Chiroptera) in Mexico.

    Science.gov (United States)

    Caspeta-Mandujano, Juan Manuel; Jiménez, Francisco Agustín; Peralta-Rodríguez, Jorge Luis; Guerrero, José Antonio

    2013-01-01

    A new species of nematode, Pterygodermatites (Pterygodermatites) mexicana n. sp., is described based on specimens recovered from the intestine of the gray sac-winged bat, Balantiopteryx plicata (Chiroptera, Emballonuridae), from the Biosphere Reserve "Sierra de Huautla" in the state of Morelos, Mexico. This is the second species in the genus described from bats in the New World, since most of the rictaluriids reported in these hosts belong to the closely related genus Rictularia Froelich, 1802. However, members of Rictularia possess only a single oesophageal tooth at the base of the buccal capsule, whereas in the current nematodes three conspicuous oesophageal teeth are present. They are therefore included in Pterygodermatites Wedl, 1861. The new species is characterized by the presence of 23 small denticles on the periphery of the buccal capsule and by the presence of 40 and 66 pairs of cuticular processes in males and females, respectively. Additionally, males possess 3-4 ventral precloacal fan-like processes, and the cuticular processes of females are divided into 40 pairs of comb-like and 26 pairs of spine-like processes; the vulva opens on the level of approximately pair 40. The dorsally directed stoma and the 40 prevulvar cuticular processes makes it difficult to place the species in any of the subgenera present in the New World, yet characters correspond with the diagnosis of Pterygodermatites (Pterygodermatites) in the Mediterranean region and North Africa. © J.M. Caspeta-Mandujano et al., published by EDP Sciences, 2013.

  15. Taxonomy and Systematics of the Genus Makatinus Heyns, 1965 (Nematoda: Dorylaimida: Aporcelaimidae).

    Science.gov (United States)

    Peña-Santiago, Reyes; Varela, Ingrid

    2017-09-01

    The taxonomy and the systematics of the genus Makatinus are discussed by means of the characterization of its morphological pattern and the first molecular (D2-D3 expansion segments of 28S rDNA) analysis of a representative of this taxon, Makatinus crassiformis from Costa Rica. The presence of two or more pairs of male ad-cloacal genital papillae is the most characteristic autapomorphy of the genus, but the status of its species on this concern differ among them. Both morphological and molecular data support a relationship with Aporcelaimellus, which, however, might not be as close as usually assumed. An emended diagnosis of the genus, a key to species identification, and a compendium of their morphometrics are provided. Makatinus siddiqii is regarded as species inquirenda, Makatinus simus is retained under Eudorylaimus, and Makatinus tritici becomes a junior synonym of Aporcelaimellus tritici.

  16. Morphology, phylogeny and evolution of the superfamily Plectoidea Örley, 1880 (Nematoda: Plectida

    NARCIS (Netherlands)

    Holovachov, O.V.

    2004-01-01

    The phylogeny and classification of the superfamily Plectoidea Örley, 1880 is revised on the basis of published and updated morphological data for 35 ingroup and 2 outgroup species. The following features are here considered to support the monophyletic origin of the superfamily: 1) stegostom

  17. Resolving phylogenetic incongruence to articulate homology and phenotypic evolution: a case study from Nematoda.

    Science.gov (United States)

    Ragsdale, Erik J; Baldwin, James G

    2010-05-07

    Modern morphology-based systematics, including questions of incongruence with molecular data, emphasizes analysis over similarity criteria to assess homology. Yet detailed examination of a few key characters, using new tools and processes such as computerized, three-dimensional ultrastructural reconstruction of cell complexes, can resolve apparent incongruence by re-examining primary homologies. In nematodes of Tylenchomorpha, a parasitic feeding phenotype is thus reconciled with immediate free-living outgroups. Closer inspection of morphology reveals phenotypes congruent with molecular-based phylogeny and points to a new locus of homology in mouthparts. In nematode models, the study of individually homologous cells reveals a conserved modality of evolution among dissimilar feeding apparati adapted to divergent lifestyles. Conservatism of cellular components, consistent with that of other body systems, allows meaningful comparative morphology in difficult groups of microscopic organisms. The advent of phylogenomics is synergistic with morphology in systematics, providing an honest test of homology in the evolution of phenotype.

  18. Experimental evolution of parasite life-history traits in Strongyloides ratti (Nematoda).

    Science.gov (United States)

    Paterson, Steve; Barber, Rebecca

    2007-06-22

    Evolutionary ecology predicts that parasite life-history traits, including a parasite's survivorship and fecundity within a host, will evolve in response to selection and that their evolution will be constrained by trade-offs between traits. Here, we test these predictions using a nematode parasite of rats, Strongyloides ratti, as a model. We performed a selection experiment by passage of parasite progeny from either early in an infection ('fast' lines) or late in an infection ('slow' lines). We found that parasite fecundity responded to selection but that parasite survivorship did not. We found a trade-off mediated via conspecific density-dependent constraints; namely, that fast lines exhibit higher density-independent fecundity than slow lines, but fast lines suffered greater reduction in fecundity in the presence of density-dependent constraints than slow lines. We also found that slow lines both stimulate a higher level of IgG1, which is a marker for a Th2-type immune response, and show less of a reduction in fecundity in response to IgG1 levels than for fast lines. Our results confirm the general prediction that parasite life-history traits can evolve in response to selection and indicate that such evolutionary responses may have significant implications for the epidemiology of infectious disease.

  19. The axis of orientation of the synlophe in the Heligmosomoidea (Nematoda, Trichostrongylina: a new approach

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    Durette-Desset M.C.

    2005-09-01

    Full Text Available The definition of the axis of orientation of the synlophe is modified for the Heligmosomoidea so that one or two axes may be recognized. When two axes are present, their inclinations to the sagittal axis are different on the right and left sides, and we propose to name them right axis and left axis, respectively. During the course of evolution, starting from a single oblique axis (plesiomorphic state, an independent rotation of this axis on the right and left sides may bring about a double-axis state with a different inclination on both sides (derived state. When the rotation reaches 90° for both sides, the axis becomes simple once again and is superimposed to the frontal axis (most derived state.

  20. Experimental evolution of parasite life-history traits in Strongyloides ratti (Nematoda)

    National Research Council Canada - National Science Library

    Steve Paterson; Rebecca Barber

    2007-01-01

    ...Evolutionary ecology predicts that parasite life-history traits, including a parasite's survivorship and fecundity within a host, will evolve in response to selection and that their evolution will...