Type IV Ehlers-Danlos Syndrome: A Surgical Emergency? A Case of Massive Retroperitoneal Hemorrhage

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Chun, Stephen G; Pedro, Patrick; Yu, Mihae; Takanishi, Danny M

2011-01-01

Retroperitoneal hemorrhagic bleeding is a known manifestation of Type-IV Ehlers-Danlos Syndrome that is caused by loss-of-function mutations of the pro-alpha-1 chains of type III pro-collagen (COL3A1) resulting in vascular fragility. A number of previous reports describe futile surgical intervention for retroperitoneal bleeding in Type-IV Ehlers-Danlos Syndrome with high post-operative mortality, although the rarity of retroperitoneal bleeding associated with Type-IV Ehlers-Danlos Syndrome precludes an evidence-based approach to clinical management. We report a 23-year-old male with history of Type-IV Ehlers-Danlos Syndrome who presented with severe abdominal pain and tachycardia following an episode of vomiting. Further work-up of his abdominal pain revealed massive retroperitoneal bleeding by CT-scan of the abdomen. Given numerous cases of catastrophic injury caused by surgical intervention in Type-IV Ehlers-Danlos Syndrome, the patient was treated non-operatively, and the patient made a full recovery. This case suggests that even in cases of large retroperitoneal hemorrhages associated with Ehlers-Danlos Syndrome, it may not truly represent a surgical emergency. PMID:21966332

Caracterización del síndrome de Ehlers-Danlos tipo III Characterization of Type-III Ehlers-Danlos Syndrome

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Mirta Caridad Campo Díaz

2013-06-01

Full Text Available Introducción: el síndrome de Ehlers-Danlos es un grupo heterogéneo de trastornos hereditarios del tejido conectivo causado por mutaciones en los genes que codifican el colágeno fibrilar o las enzimas comprometidas en la modificación post-translacional de dichos colágenos caracterizado por afectación de la piel, las articulaciones y los vasos sanguíneos. Se manifiesta frecuentemente por un cuadro clínico de hipermovilidad articular con hiperextensibilidad asociado a anomalías cutáneas. Objetivo: evaluar si existe un defecto de la coagulación específico que forme parte de la enfermedad para definir un diagnóstico precoz, seguimiento y tratamiento en las distintas instancias de salud. Material y método: con el objetivo de caracterizar el síndrome en nuestra provincia se realizó una investigación aplicada, observacional, descriptiva y transversal de 305 niños con síndrome de Ehlers-Danlos tipo III en edades comprendidas entre 5 y 18 años para el diagnóstico de las manifestaciones articulares típicas de la enfermedad así como evaluación por cardiología, oftalmología, fisiatría y ortopedia realizándose además coagulograma y lámina periférica. Resultados: no se encontró predominio de género y los antecedentes familiares sugestivos de la enfermedad estuvieron presentes en casi la mitad de los pacientes, predominando la vía materna. La historia de tendencia familiar hemorrágica fue positiva en 36 casos. Las manifestaciones encontradas en los pacientes fueron las descritas para la entidad, destacándose la existencia de sangramiento predominantemente cutáneo-mucoso o por procederes invasivos en 181 niños asociado a la presencia de macroplaquetas y plaquetas dispersas en el extendido periférico. Conclusiones: los resultados obtenidos indican la existencia de trastornos cualitativos plaquetarios que debe evaluarse mediante estudios más específicos de la coagulación no disponibles en la provincia que incluya la

Tenascin-X, Collagen, Elastin and the Ehlers-Danlos Syndrome

Energy Technology Data Exchange (ETDEWEB)

Bristow, James; Carey, William; Schalkwijk, Joost

2005-08-31

Tenascin-X is an extracellular matrix protein initially identified because of its overlap with the human CYP21B gene. Because studies of gene and protein function of other tenascins had been poorly predictive of essential functions in vivo, we used a genetic approach that critically relied on an understanding of the genomic locus to uncover an association between inactivating tenascin-X mutations and novel recessive and dominant forms of Ehlers-Danlos syndrome. Tenascin-X provides the first example of a gene outside of the fibrillar collagens and their processing enzymes that causes Ehlers-Danlos syndrome. Tenascin-X null mice recapitulate the skin findings of the human disease, confirming a causative role for this gene in Ehlers-Danlos syndrome. Further evaluation of these mice showed that tenascin-X is an important regulator of collagen deposition in vivo, suggesting a novel mechanism of disease in this form of Ehlers-Danlos syndrome. Further studies suggest that tenascin-X may do this through both direct and indirect interactions with the collagen fibril. Recent studies show that TNX effects on matrix extend beyond the collagen to the elastogenic pathway and matrix remodeling enzymes. Tenascin-X serves as a compelling example of how human experiments of nature can guide us to an understanding of genes whose function may not be evident from their sequence or in vitro studies of their encoded proteins.

Spontaneous Splenic Rupture in Vascular Ehlers-Danlos Syndrome.

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Batagini, Nayara Cioffi; Gornik, Heather; Kirksey, Lee

2015-01-01

Vascular Ehlers-Danlos Syndrome (VEDS) is a rare autosomal dominant collagen vascular disorder. Different from other Ehler-Danlos Syndrome subtypes, VEDS has poor prognosis due to severe fragility of connective tissues and association with life-threatening vascular and gastrointestinal complications. Spontaneous splenic rupture is a rare but hazardous complication related to this syndrome. To date, only 2 cases have been reported in the literature. Here we present another case of this uncommon complication, occurring in a 54-year-old woman in clinical follow-up for VEDS who presented with sudden onset of abdominal pain and hypotension. © The Author(s) 2015.

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome

DEFF Research Database (Denmark)

Burcharth, Jakob; Rosenberg, Jacob

2012-01-01

Introduction: Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue diseases characterized by joint hypermobility, skin hyperextensibility and bruising tendency. Common features of patients with EDS include vascular and gastrointestinal perforations. The purpose...... of this systematic review is to address gastrointestinal diseases and the complications associated with surgical treatment of diseases relating to the gastrointestinal system in patients with EDS. Methods: PubMed search including the Medical Subject Heading (MeSH) terms 'Ehlers-Danlos Syndrome' and 'Gastrointestinal...... Diseases', and an Embase search including the Map Term to Subject Heading 'Ehlers-Danlos Syndrome' with 'AND' function of the keyword 'Gastrointestinal'. Results: The literature search resulted in inclusion of 53 articles after application of eligibility criteria. The primary results drawn from...

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

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Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

2018-03-05

To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

NARCIS (Netherlands)

Schalkwijk, J.; Zweers, M.C.; Steijlen, P.M.; Dean, W.B.; Taylor, G.; Vlijmen-Willems, I.M.J.J. van; Haren, B. van; Miller, W.L.; Bristow, J.

2001-01-01

BACKGROUND: The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated

Ehlers-Danlos syndrome with monostotic fibrous dysplasia

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Rao A

1979-01-01

Full Text Available An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopae-dic manifestations, its complications and associated features are re-viewed and summarised.

A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.

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Lan, Nick Si Rui; Fietz, Michael; Pachter, Nicholas; Paul, Vincent; Playford, David

Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype. Copyright © 2018 Elsevier Inc. All rights reserved.

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

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Quade, Annegret; Wiesmann, Martin; Weis, Joachim; Kurth, Ingo; Jalaie, Houman; Rohrbach, Marianne; Häusler, Martin

2017-09-01

Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented. This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome experienced a large right middle cerebral artery distribution infarction. Full intravenous heparinization was started in response to presumed arterial dissection. Magnetic resonance imaging studies including magnetic resonance angiography and digital subtraction angiography, however, did not confirm dissection but suggested with cerebral vasculitis extending from the intradural right internal carotid artery to the M2 branches of the middle cerebral artery. Combined steroid and cyclophosphamide therapy was associated with clinical improvement. Two months later she died from hemorrhagic shock caused by a two-sided spontaneous rupture of the aortic artery. Cerebral vasculitis should be included in the differential diagnosis of vascular complications in kyphoscoliotic type of Ehlers-Danlos syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

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Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

2017-11-10

To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

Síndroma de Ehlers-Danlos: Uma causa rara de pneumotórax espontâneo Ehlers-Danlos syndrome: A rare cause of spontaneous pneumothorax

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Carlos Lopes

2006-07-01

Full Text Available A síndroma de Ehlers-Danlos (cutis hyperelastica, constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos. Apresenta transmissão hereditária, em geral autossómica dominante. Afecta primordialmente a síntese do colagéneo, pelo que a pele e os vasos sanguíneos se tornam extremamente elásticos e frágeis. A pele é macia, com consistência de borracha, e as equimoses surgem facilmente. As articulações são hiperextensíveis e têm mobilidade aumentada. Os autores apresentam o caso clínico de um doente de dezasseis anos, com história de hipermobilidade articular desde a infância e fractura esplénica, a quem foi feito o diagnóstico de síndroma de Ehlers-Danlos na sequência de pneumotórax espontâneo recidivante. Apresentam-se as complicações pulmonares mais frequentes desta síndroma e discute-se a importância de não esquecer as etiologias menos comuns, perante casos de pneumotórax espontâneo.Ehlers-Danlos syndrome (cutis hyperelastica, is a group of connective tissue disorders characterized by abnormalities of the skin, ligaments and internal organs. It is a hereditary syndrome, usually with autossomal dominant inheritance; that primarily affects the collagen synthesis. The skin and blood vessels are extremely fragile and elastic. The skin is soft with rubber consistency and easily bruising. There are hypermobile joints with increased extensibility. We summarize the case of a sixteen year old boy with a history of joint hypermobility since childhood and splenic fracture that was diagnosed with Ehlers-Danlos syndrome after the occurrence of recidivant spontaneous pneumothorax. We present the most common pulmonary complications of Ehlers-Danlos syndrome and discuss the importance of not forgetting the least commons etiologies of pneumothorax, in cases of spontaneous pneumothorax.

Ehlers danlos syndrome in two siblings

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Das M

2005-01-01

Full Text Available Two cases of Ehlers-Danlos syndrome affecting two real brothers are being reported. Both of them presented with features of atrophy and hyperextensibility of skin, hypermobility of joints and scarring at the sites of trauma. The elder brother also had kyphoscoliosis and hypogonadism with testicular failure.

[Ehler-Danlos syndrome (type V) with urethra bifida and polydactyly: an unusual combination].

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Manna, R; Modugno, I; Pala, M A; Caputo, S; Caradonna, E; Greco, A V

1981-06-30

Ehlers-Danlos syndrome is currently regarded as a connective tissue dysplasia. Its genetic, biochemical, histological and clinical features are described, together with a personal case in a patient who presented the fundamental symptoms, plus polydactyly and bifid urethra. This association had not been hitherto reported in the literature. The case itself is classed as Ehlers-Danlos syndrome type V.

Ehlers-Danlos syndrome type IV

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Germain Dominique P

2007-07-01

Full Text Available Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS, is an inherited connective tissue disorder defined by characteristic facial features (acrogeria in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular

Ehlers-Danlos syndrome type IV

Science.gov (United States)

Germain, Dominique P

2007-01-01

Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering

Surgical and medical treatment of ocular disease in a dog with Ehlers-Danlos syndrome.

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Rasch, Søren N

2017-06-01

Correctional surgery was performed on a 3-year-old intact male shih tzu presenting with Ehlers-Danlos syndrome, ocular disease, and skin fold dermatitis. A one-year follow-up showed that no further clinical corrections were needed. Therefore, surgery could be considered in some canine patients with Ehlers-Danlos syndrome.

Matrix metalloproteinase inhibitor therapy to prevent complications as well as therapy for Ehler-Danlos syndrome.

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Sastry, P S R K

2002-09-01

Matrixmetalloproteinase inhibitors have been developed as anti-cancer agents. Their usage in pancreatic cancer and other such malignancies is under trial at present. An interesting undesired-effect of one of these agents is contracture of the hand. Ehler-Danlos syndrome is an inherited group of diseases with varying types. At present there is no known treatment or prevention for the complications associated with this inherited condition. Sometimes it is the adverse events of a drug, which provides an insight into its efficacy for another indication. It is hereby being hypothesized that the matrixmetalloproteinase inhibitors especially marimastat may be an effective drug for treatment of Ehler-Danlos syndrome and/or prevention of its major complications.

Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature.

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Maraj, Bharat; Harding-Theobald, Emily; Karaki, Fatima

2018-04-26

Ehlers-Danlos syndrome refers to a spectrum of connective tissue disorders typically caused by mutations in genes responsible for the synthesis of collagen. Patients with Ehlers-Danlos syndrome often exhibit hyperflexibility of joints, increased skin elasticity, and tissue fragility. Vascular Ehlers-Danlos (vEDS) is a subtype of Ehlers-Danlos syndrome with a predilection to involve blood vessels. As such, it often manifests as vascular aneurysms and vessel rupture leading to hemorrhage. There are few reports describing primary prevention of aneurysms in the setting of undiagnosed, suspected vEDS. We present a case of a 30-year-old woman who presents with a pulsatile neck mass found to have multiple arterial aneurysms on imaging, hyperflexibility, and characteristic facial features consistent with vEDS. As described in this case, management of a suspected connective tissue disorder is a multidisciplinary approach including vascular surgery, medical therapy, and genetic testing to confirm the diagnosis. We review literature regarding the care of patients with vascular Ehlers-Danlos as it might pertain to hospitalized patients.

Síndrome de Ehlers Danlos: ¿subregistro clínico en ortopedia pediátrica? Ehlers Danlos syndrome: a clinical subregister in pediatric orthopedics?

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George N. García Rodríguez

2008-06-01

Full Text Available INTRODUCCIÓN. El comportamiento del síndrome de Ehlers Danlos hizo que se interpretara como un subregistro clínico, poco conocido y con escasas referencias. Esta genodermatosis generalmente está condenada a no tener un tratamiento específico. El objetivo del presente estudio fue, principalmente, describir la morbilidad de este síndrome, desde el punto de vista ortopédico. METÓDOS. Se realizó un estudio descriptivo prospectivo de 5 años, que incluyó a todos los pacientes con síndrome de Ehlers Danlos, atendidos en la consulta de ortopedia y traumatología entre julio de 2001 y julio del 2006, en el Hospital Pediátrico Docente «José Martí» (Sancti Spiritus, Cuba. Se consideró un tiempo mínimo de seguimiento de 6 meses para la validación de los resultados. RESULTADOS. Fueron estudiados 41 pacientes afectos de 72 enfermedades de origen ortopédico. La frecuencia estuvo próxima a 1,7 enfermedades por paciente, con predominio no significativo del sexo femenino (n = 24. Uno de los antecedentes perinatales más importantes fue la presencia de grados diversos de displasia de la cadera. La presencia de otras afecciones no ortopédicas no fue significativa. Los principales hallazgos ortopédicos fueron el pie plano flexible (37, el genus recurvatum (11 y la cifoescoliosis (9. La cirugía estética y la cirugía correctora ortopédica fueron las más utilizadas. CONCLUSIONES. La dispensarización de esta enfermedad y su tratamiento oportuno es un método de control eficaz que ayudaría a evitar la degeneración articular, generalmente antesala de la osteoartrosis.INTRODUCTION. The behavior of Ehlers Danlos syndrome caused it to be interpreted as a clinical subregister, little known, and with a few references. This genodermatosis is generally condemned not to have a specific treatment. The objective of this study was mainly to describe the morbidity of this syndrome from the orthopedic point of view. METHODS. A 5-year prospective and

Ehlers-Danlos syndrome

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Farhana Tahseen Taj

2014-01-01

Full Text Available Ehlers-Danlos syndrome (EDS is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. First described by Hippocrates in 4 th century B.C., the various clinical types with variable penetrance have been described lately. The number of cases EDS reported in the literature is very meagre. With the available information only about six publications of classic EDS in siblings had been reported in Indian literature.

Living with Ehlers-Danlos syndrome

OpenAIRE

Berglund, Britta

2003-01-01

This thesis focuses on how individuals with the Ehlers-Danlos syndrome (EDS), an inherited connective-tissue disorder, experience and describe their daily lives with focus on physical and psychosocial problems. The syndrome primarily affects the skin, ligaments, joints and blood vessels and the symptoms in EDS vary from mild to more severe forms. Individuals with EDS were recruited via the Swedish National EDS Association. Paper (I). The aim was to explore how individuals wi...

Endovascular repair of multiple infrageniculate aneurysms in a patient with vascular type Ehlers-Danlos syndrome.

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Domenick, Natalie; Cho, Jae S; Abu Hamad, Ghassan; Makaroun, Michel S; Chaer, Rabih A

2011-09-01

Patients with vascular type Ehler-Danlos syndrome can develop aneurysms in unusual locations. We describe the case of a 33-year-old woman with vascular type Ehlers-Danlos syndrome who developed metachronous tibial artery aneurysms that were sequentially treated with endovascular means. Copyright © 2011 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.

Association between diverticular disease and Ehlers-Danlos syndrome

DEFF Research Database (Denmark)

Leganger, Julie; Søborg, Marie-Louise Kulas; Mortensen, Laura Quitzau

2016-01-01

Purpose: The aim of this study was to examine occurrence and consequences of diverticular disease in patients with Ehlers-Danlos syndrome (EDS) compared with a matched cohort.  Methods: This nationwide population-based cohort study was conducted using data from medical registers in Denmark from...

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

NARCIS (Netherlands)

Voermans, N.C.; Alfen, N. van; Pillen, S.; Lammens, M.M.Y.; Schalkwijk, J.; Zwarts, M.J.; Rooij, I.A.L.M. van; Hamel, B.C.J.; Engelen, B.G.M. van

2009-01-01

OBJECTIVE: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Muscle involvement is plausible based on recently discovered interactions between

Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids

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Timothy P. Plackett

2014-01-01

Full Text Available Ehlers-Danlos syndrome-hypermobility type (EDS-HT is a connective tissue disorder associated with chronic musculoskeletal pain. The diagnosis is based on simple clinical examination, although it is easily overlooked. Herein we present a case of EDS-HT associated with hemorrhoids and suggest that there may be an association between the two conditions.

Ehlers-Danlos syndrome in a Zimbabwean child.

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Olaosebikan, A; Wolf, B

1993-01-01

An isolated case of Ehler-Danlos syndrome, Type 1, in a two year old Zimbabwean boy is described. The patient presented with failure to thrive and inability to stand. Examination revealed hyperextensibility of the joints and skin, umbilical and inguinal hernias and a perimembranous ventricular septal defect. To the best of our knowledge this is the first pediatric case described in the African literature.

Ehlers-Danlos syndrome

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Wakhloo Tulika

2015-01-01

Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

Paralyse af nervus peroneus hos patient med Ehlers-Danlos syndrom

DEFF Research Database (Denmark)

Al-Aubaidi, Zaid; Skov, Ole

2011-01-01

Ehlers-Danlos syndrome (EDS) is a hereditary generalized connective tissue disorder characterized by skin hyperextensibility, joint hypermobility and tissue fragility. Peripheral neuropathy is described sporadically. Although the exact mechanism of the neuropathy is not well-known, excessive...

Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature

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Abayazeed, Aly; Hayman, Emily; Moghadamfalahi, Mana; Cain, Darren

2014-01-01

Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation). The vascular type accounts for less than 4% of all Ehlers-Danlos cases and usually has a poor prognosis due to life threatening vascular ruptures and difficult, frequently unsuccessful surgical and vascular interventions. In 70% of cases, vascular rupture or dissection, gastrointestinal perforation, or organ rupture is a presenting sign. We present a case of genetically proven vascular Ehlers-Danlos with fatal recurrent retroperitoneal hemorrhages secondary to a ruptured right common iliac artery dissection in a 30-year-old male. This case highlights the need to suspect collagen vascular disorders when a young adult presents with unexplained retroperitoneal hemorrhage, even without family history of such diseases. PMID:24967021

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

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Kashizaki Fumihiro

2013-02-01

Full Text Available Abstract Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease. Case presentation A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36. A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation. Conclusion We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

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Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

2014-01-01

There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

Friable but treatable: coronary artery dissections in Ehlers-Danlos syndrome.

Science.gov (United States)

Zago, Alexandre C; Matte, Bruno S

2013-01-01

Vascular Ehlers-Danlos syndrome is a rare connective tissue disorder associated with arterial dissection or rupture. Percutaneous coronary intervention (PCI) is often critical in patients with this syndrome because their coronary arteries are prone to dissection, enhancing the risk of stent borders dissection when conventional stent deployment pressures are used. Coronary artery bypass graft (CABG) treatment for these patients may also raise concerns because the left internal mammary artery is probably friable. Therefore, coronary artery revascularization in vascular Ehlers-Danlos syndrome either using PCI or CABG is challenging due to the arteries friability. A small number of cases have been published describing the friability of the vessels and associated complications; nevertheless, the optimum treatment remains unclear. We report the case of a 54-year-old woman treated successfully with PCI and CABG in two different acute coronary syndrome episodes, in which specific technical issues related to both procedures were decisive. Copyright © 2011 Wiley Periodicals, Inc.

Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature

Science.gov (United States)

Reinstein, Eyal; Pimentel, Mark; Pariani, Mitchel; Nemec, Stephen; Sokol, Thomas; Rimoin, David L

2012-01-01

Gastrointestinal complications are common in patients with Ehlers-Danlos Syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos Syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos Syndrome. PMID:22781752

Computed tomography in patients with Ehlers-Danlos syndrome

Energy Technology Data Exchange (ETDEWEB)

Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

1985-09-01

Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.

Computed tomography in patients with Ehlers-Danlos syndrome

International Nuclear Information System (INIS)

Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

1985-01-01

Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect. (orig.)

Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.

Science.gov (United States)

Hope, Lena; Juul-Kristensen, Birgit; Løvaas, Helene; Løvvik, Camilla; Maeland, Silje

2017-10-17

To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Further, 140 gender- and age-matched healthy controls from statistics Norway representing the general population were sent the questionnaire for reference. Overall response rate was 30.4% (n = 76), with 44.5% (n = 49) in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type and 19.3% (n = 27) in controls. Subjective health complaints were significantly higher in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type - than in the controls (32.06 vs. 11.08; p Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type had low understanding of their illness and symptoms (understanding, mean: 3.93, SD 2.88), and reported to have moderate personal and treatment control over their illness. Adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported higher frequency and severity of subjective health complaints than the matched controls from the general adult population in Norway. Furthermore, Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported low understanding of their illness and associated symptoms, and moderate belief that their illness can be kept under control through self-management or treatment. This may indicate one of the reasons why prognosis for these patients is poor. Implications for rehabilitation Awareness of the complexity of the subjective health complaints and inquiry into illness perception could contribute with valuable information about these

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

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Sophie Ronceray

2013-01-01

Full Text Available Ehlers-Danlos syndrome type VIII (EDS-VIII is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII.

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.

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Cortini, Francesca; Marinelli, Barbara; Seia, Manuela; De Giorgio, Barbara; Pesatori, Angela Cecilia; Montano, Nicola; Bassotti, Alessandra

2016-10-31

The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments. We present a case of a 38-year-old Italian woman who was diagnosed as having the vascular type of Ehlers-Danlos syndrome. Genetic testing, conducted by Target Enrichment approach (Agilent Technologies), identified a new mutation c.1493G>A, p.G498D in exon 21 of COL3A1 gene (heterozygous state). This mutation disrupts the normal glycine-X-Y repetitions of type III procollagen by converting glycine to aspartic acid. We report a new genetic mutation associated with the vascular type of Ehlers-Danlos syndrome. We also describe clinical and genetic findings that are important to understand the genotype/phenotype correlation in patients with the vascular type of Ehlers-Danlos syndrome.

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome

NARCIS (Netherlands)

Gerrits, K.H.; Voermans, N.C.; Haan, A. de; Engelen, B.G.M. van

2013-01-01

INTRODUCTION: Ehlers-Danlos syndrome (EDS), a connective tissue disorder, may lead to impaired contractile function of lower limb muscles. METHODS: To test this hypothesis and to understand the possible mechanisms involved, isometric function of the thigh muscles was investigated at different joint

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome

NARCIS (Netherlands)

Gerrits, K.H.L.; Voermans, N.C.; de Haan, A.; van Engelen, B.G.

2013-01-01

Introduction: Ehlers-Danlos syndrome (EDS), a connective tissue disorder, may lead to impaired contractile function of lower limb muscles. Methods: To test this hypothesis and to understand the possible mechanisms involved, isometric function of the thigh muscles was investigated at different joint

[Ehlers Danlos type IV syndrome presenting with simultaneous dissection of both internal carotid and both vertebral arteries].

Science.gov (United States)

Mondon, K; de Toffol, B; Georgesco, G; Cassarini, J-F; Machet, M-C; Cottier, J-P; Arbeille, B; Autret, A

2004-04-01

Dissection of cervical arteries is a frequent cause of stroke in young subjects. We report the case of a 34-year-old patient who experienced simultaneous dissection of both internal carotid arteries and both vertebral arteries leading to repeated motor deficit of the right half-body associated with persistent otalgia. Search for an etiology led to the diagnosis of Ehlers-Danlos syndrome type IV. Search for the cause of cervical artery dissection must consider connective tIssue disease, particularly vascular forms of Ehler-Danlos syndrome. Diagnostic, therapeutic as well as prognostic aspects are discussed.

Ehler Danlos syndrome with cervical dislocation: An unusual case

OpenAIRE

Neeraj Awasthy; Karam Chand

2008-01-01

Ehler-Danlos syndrome (EDS) is heritable connective tissue disorders with varied manifestations whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility. Os odontoideum describes a condition in which the dens is separated from the axis body. The exact frequency is unknown. Known cases are either incidentally detected or are diagnosed when patients become symptomatic. Cervical dislocation has been described with type VI les...

Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

DEFF Research Database (Denmark)

Remvig, Lars; Duhn, Ph; Ullman, S

2010-01-01

Objective: The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin...

Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

DEFF Research Database (Denmark)

Remvig, L; Duhn, Ph; Ullman, S

2010-01-01

The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin extensibility...

Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

Science.gov (United States)

Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

2017-03-01

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study

NARCIS (Netherlands)

Voermans, N.C.; Knoop, H.; Bleijenberg, G.; Engelen, B.G.M. van

2011-01-01

OBJECTIVES: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that

Síndroma de Ehlers-Danlos – Uma causa rara de pneumotórax espontâneo

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Carlos Lopes

2006-07-01

Full Text Available Resumo: A síndroma de Ehlers-Danlos (cutis hyperelastica, constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos.Apresenta transmissão hereditária, em geral autossómica dominante. Afecta primordialmente a síntese do colagéneo, pelo que a pele e os vasos sanguíneos se tornam extremamente elásticos e frágeis. A pele é macia, com consistência de borracha, e as equimoses surgem facilmente. As articulações são hiperextensíveis e têm mobilidade aumentada.Os autores apresentam o caso clínico de um doente de dezasseis anos, com história de hipermobilidade articular desde a infância e fractura esplénica, a quem foi feito o diagnóstico de síndroma de Ehlers-Danlos na sequência de pneumotórax espontâneo recidivante.Apresentam-se as complicações pulmonares mais frequentes desta síndroma e discute-se a importância de não esquecer as etiologias menos comuns, perante casos de pneumotórax espontâneo. Abstract: Ehlers-Danlos syndrome (cutis hyperelastica, is a group of connective tissue disorders characterized by abnormalities of the skin, ligaments and internal organs.It is a hereditary syndrome, usually with autossomal dominant inheritance; that primarily affects the collagen synthesis. The skin and blood vessels are extremely fragile and elastic. The skin is soft with rubber consistency and easily bruising. There are hypermobile joints with increased extensibility.We summarize the case of a sixteen year old boy with a history of joint hypermobility since childhood and splenic fracture that was diagnosed with Ehlers-Danlos syndrome after the occurrence of recidivant spontaneous pneumothorax.We present the most common pulmonary complications of Ehlers-Danlos syndrome and discuss the importance of not forgetting the least commons etiologies of pneumothorax, in cases of spontaneous pneumothorax

Síndrome de Ehlers Danlos: ¿subregistro clínico en ortopedia pediátrica?

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George N. García Rodríguez

Full Text Available INTRODUCCIÓN. El comportamiento del síndrome de Ehlers Danlos hizo que se interpretara como un subregistro clínico, poco conocido y con escasas referencias. Esta genodermatosis generalmente está condenada a no tener un tratamiento específico. El objetivo del presente estudio fue, principalmente, describir la morbilidad de este síndrome, desde el punto de vista ortopédico. METÓDOS. Se realizó un estudio descriptivo prospectivo de 5 años, que incluyó a todos los pacientes con síndrome de Ehlers Danlos, atendidos en la consulta de ortopedia y traumatología entre julio de 2001 y julio del 2006, en el Hospital Pediátrico Docente «José Martí» (Sancti Spiritus, Cuba. Se consideró un tiempo mínimo de seguimiento de 6 meses para la validación de los resultados. RESULTADOS. Fueron estudiados 41 pacientes afectos de 72 enfermedades de origen ortopédico. La frecuencia estuvo próxima a 1,7 enfermedades por paciente, con predominio no significativo del sexo femenino (n = 24. Uno de los antecedentes perinatales más importantes fue la presencia de grados diversos de displasia de la cadera. La presencia de otras afecciones no ortopédicas no fue significativa. Los principales hallazgos ortopédicos fueron el pie plano flexible (37, el genus recurvatum (11 y la cifoescoliosis (9. La cirugía estética y la cirugía correctora ortopédica fueron las más utilizadas. CONCLUSIONES. La dispensarización de esta enfermedad y su tratamiento oportuno es un método de control eficaz que ayudaría a evitar la degeneración articular, generalmente antesala de la osteoartrosis.

Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV

International Nuclear Information System (INIS)

Hagspiel, Klaus D.; Bonatti, Hugo; Sabri, Saher; Arslan, Bulent; Harthun, Nancy L.

2011-01-01

Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

Case of Ehlers-Danlos syndrome associated with abnormal cranial CT findings

Energy Technology Data Exchange (ETDEWEB)

Hagino, Hiroshi; Sugitani, Akitoshi (Matsue Seishi Gakuen, Shimane (Japan)); Eda, Isematsu; Takakura, Hiroki

1984-01-01

A 16-year-old girl having typical Ehlers-Danlos syndrome was reported. In this patient, although there were no specific neurological findings, cranial CT scanning revealed marked dilation and deformation of the whole forth ventricle, dilation of the superior cerebellar cistern, and the dilation and deformation of the quadrigeminal cistern and circumvolute cistern, suggesting morphological abnormalities of the vermian region.

Cardiopatía valvular en fase dilatada en paciente con Síndrome de Ehlers-Danlos

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Belkis J. Menoni-Blanco

2010-01-01

Full Text Available El Síndrome de Ehlers-Danlos (SED es una alteración hereditaria del tejido conjuntivo, presentada en 1 de 5000 nacidos. Las principales alteraciones cardiovasculares descritas son insuficiencia de la válvula mitral y debilidad de vasos sanguíneos de gran calibre. En este reporte se presenta paciente de 25 años de edad, con diagnósticos de SED e insuficiencia mitral desde 2007, asociado con patrón de disnea a moderados esfuerzos (Clase funcional II. En mayo de 2009 consulta por presentar cambio en el patrón de disnea por lo que es ingresada al Servicio de Cardiología del Hospital Universitario de Caracas con los diagnósticos de SDE y cardiopatía dilatada con insuficiencia mitral severa e insuficiencia tricuspídea moderada en insuficiencia cardíaca clase funcional IV. En el examen físico se evidencia pulso venoso yugular con onda v sistólica a +5cm, pulso carotídeo parvus y céler, latido sistólico, ápex hiperquinético, ruidos rítmicos y regulares, soplo holosistólico mitral 2/4 y soplo holosistólico tricuspídeo 2/4, modificable con la inspiración. El tratamiento planteado es reemplazo valvular mitral para mejorar la sintomatología. La complicación valvular en este síndrome es poco frecuente, siendo resaltante en el caso, la alteración de dos válvulas cardíacas y además, la presencia de un evento tromboembólico de origen cardiogénico hacia sistema nervioso central como antecedente. La valoración de esta paciente permite la identificación de elementos particulares de su patología, que pueden ser descritos como factores de riesgo en la evolución hacia una cardiopatía avanzada.

Skin extensibility and consistency in patients with Ehlers-Danlos syndrome and benign joint hypermobility syndrome

DEFF Research Database (Denmark)

Remvig, L; Duhn, P H; Ullman, S

2009-01-01

OBJECTIVES: The reproducibility of clinical tests for skin extensibility and consistency, essential for differentiating between types of Ehlers-Danlos syndrome (EDS) and benign joint hypermobility syndrome (BJHS), is unknown. Paraclinical methods may provide objective differential diagnostic...

Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).

Science.gov (United States)

Radetskaya, L S; Makatsariya, A D; Bitsadze, V O; Khizroeva, J K

2018-07-01

The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.

Anterior Cruciate Ligament Reconstruction in Ehlers-Danlos Syndrome

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John Williams

2015-01-01

Full Text Available This report details the reconstruction of the anterior cruciate ligament in an 18-year-old man with Ehlers-Danlos syndrome (EDS. The reduced mechanical properties of the tissue in EDS can pose a challenge to the orthopaedic surgeon. In this case, we describe the use of a hamstring autograft combined with a Ligament Advanced Reinforcement System (LARS. There was a good radiographical, clinical, and functional outcome after two years. This technique gave a successful outcome in the reconstruction of the ACL in a patient with EDS and therefore may help surgeons faced with the same clinical scenario.

Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers-Danlos syndrome: a case report.

Science.gov (United States)

Lo, Tony Chung Tung; Yeung, Stephen Tung; Lee, Sujin; Skavinski, Kira; Liao, Solomon

2016-01-01

Ehlers-Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers-Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. A 27-year-old Caucasian female with a history of Ehlers-Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions. After a 7-day course of ketamine intravenous infusion under controlled generalized sedation in the intensive care unit, the patient reported a dramatic reduction in pain levels from 7-8 out of 10 to 0-3 out of 10 on a numeric rating scale and had a significant functional improvement. The patient tolerated a reduction in her pain medication regimen, which originally included opioids, gabapentin, pregabalin, tricyclic antidepressants, and nonsteroidal anti-inflammatory drugs. Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the regression of N-methyl-D-aspartate receptor to a resting state. As such, propagation of nociceptive signal to brain is interrupted allowing for the restoration of physiological balance between pain inhibition and facilitation. The present report shows that this treatment option can be used in patients with refractory central pain syndrome in the setting of spinal cord myelopathy secondary to Ehlers-Danlos syndrome. In addition, as seen in this case, this protocol can potentially decrease the chronic use of pain medication, such as opioids.

Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

Science.gov (United States)

Krahe, Anne Maree; Adams, Roger David; Nicholson, Leslie Lorenda

2018-08-01

To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites. Multiple regression analysis was performed to identify predictors of fatigue in this population. Significant fatigue was reported by 79.5% of the 117 participants. Multiple regression analysis identified five predictors of fatigue severity, four being potentially modifiable, accounting for 52.3% of the variance in reported fatigue scores. Predictors of fatigue severity were: the self-perceived extent of joint hypermobility, orthostatic dizziness related to heat and exercise, levels of participation in personal relationships and community, current levels of physical activity and dissatisfaction with the diagnostic process and management options provided for their condition. Fatigue is a significant symptom associated with JHS/EDS-HT. Assessment of individuals with this condition should include measures of fatigue severity to enable targeted management of potentially modifiable factors associated with fatigue severity. Implications for rehabilitation Fatigue is a significant symptom reported by individuals affected by joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. Potentially modifiable features that contribute to fatigue severity in this population have been identified. Targeted management of these features may decrease the severity and impact of fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

Bone involvement in adult patients affected with Ehlers-Danlos syndrome.

Science.gov (United States)

Eller-Vainicher, C; Bassotti, A; Imeraj, A; Cairoli, E; Ulivieri, F M; Cortini, F; Dubini, M; Marinelli, B; Spada, A; Chiodini, I

2016-08-01

The Ehlers-Danlos syndrome is characterized by abnormal connective tissue but bone involvement is debated. We found a reduced BMD and bone quality and increased prevalence of asymptomatic vertebral fractures in eugonadal patients with Ehlers-Danlos syndrome. These findings suggest the need of a bone health evaluation in these patients. The Ehlers-Danlos (EDS) syndrome is characterized by abnormalities of the connective tissue leading to ligamentous laxity and skin and tissue fragility. We evaluated the bone metabolism, bone mineral density (BMD) and bone quality (measured by trabecular bone score, TBS), and the prevalence of vertebral fractures (VFx) in a group of eugonadal adult EDS patients. Fifty consecutive Caucasian patients, aged 30-50 years (36 females, 14 males) with classical or hypermobility EDS and 50 age-, gender-, and body mass index (BMI)-matched control subjects were enrolled. In all subjects' calcium-phosphorous metabolism, bone turnover, BMD at the lumbar spine (LS) and femur (femoral neck, FN and total femur, FT) and TBS by dual-energy X-ray absorptiometry, and the VFx presence by spine radiograph were assessed. Patients showed reduced BMD (Z-scores LS -0.45 ± 1.00, FN -0.56 ± 1.01, FT -0.58 ± 0.92) and TBS (1.299 ± 0.111) and increased prevalence of morphometric VFx (32 %) than controls (Z-scores LS 0.09 ± 1.22, FN 0.01 ± 0.97, FT 0.08 ± 0.89; TBS 1.382 ± 0.176; VFx 8 %, p <0.05 for all comparisons), while vitamin D levels, calcium-phosphorous metabolism, and bone turnover were comparable. Fractured EDS patients showed lower TBS values than non-fractured ones (1.245 ± 0.138 vs 1.325 ± 0.086, p < 0.05), despite comparable BMD. In EDS patients, the VFx presence was significantly associated with TBS even after adjusting for sex, age, BMD, EDS type, and falls frequency. EDS patients have reduced BMD and bone quality (as measured by TBS) and increased prevalence of VFx.

Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

Science.gov (United States)

Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

2012-01-01

People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

A case of Ehlers-Danlos syndrome associated with abnormal cranial CT findings

International Nuclear Information System (INIS)

Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takakura, Hiroki.

1984-01-01

A 16-year-old girl having typical Ehlers-Danlos syndrome was reported. In this patient, although there were no specific neurological findings, cranial CT scanning revealed marked dilation and deformation of the whole forth ventricle, dilation of the superior cerebellar cistern, and the dilation and deformation of the quadrigeminal cistern and circumvolute cistern, suggesting morphological abnormalities of the vermian region. (Namekawa, K.)

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Science.gov (United States)

Kobets, Andrew J; Komlos, Daniel; Houten, John K

2018-07-01

Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children. We describe the first case of successful surgical treatment in an infant with a high cervical kyphotic deformity in EDS. A 15-month-old female with EDS presented with several months of regression in gross motor skills in all four extremities. Imaging demonstrated 45° of kyphosis from the C2-4 levels with spinal cord compression. Corrective surgery consisted of a C3 corpectomy and C2-4 anterior fusion with allograft block and anterior fixation with dual 2 × 2 hole craniofacial miniplates, supplemented by C2-4 posterior fusion using four craniofacial miniplates fixated to the lamina. Radiographs at 20 months post-surgery demonstrated solid fusion both anteriorly and posteriorly with maintenance of correction. Ehlers-Danlos syndrome may present in the pediatric population with congenital kyphosis from cervical deformity in addition to the more commonly seen thoracolumbar deformities.

Open inferior capsular shift for multidirectional shoulder instability in adolescents with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome.

Science.gov (United States)

Vavken, Patrick; Tepolt, Frances A; Kocher, Mininder S

2016-06-01

The objective of this study was to assess the outcome of open inferior capsular shift for multidirectional shoulder instability in patients with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome. Data were obtained for 18 open inferior capsular shift surgeries in 15 adolescent patients with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome with a mean follow-up of 7.5 years. End points were subjective clinical outcome (pain, stability, satisfaction, return to sport), objective clinical outcome (recurrence, complications), and functional outcome scores (American Shoulder and Elbow Surgeons, 11-item version of the Disabilities of Arm, Shoulder and Hand). Thirteen patients (87%) reported improved pain and stability and were satisfied with the procedure. Nine patients (64%) were able to return to sports. One patient (7%) was dissatisfied with continuous pain and recurrent instability and considered a surgical failure. Seven patients (47%) reported no further episodes of instability. The mean American Shoulder and Elbow Surgeons score at a mean of 7.5 years of follow-up was 88 ± 10 points, and the mean score for the 11-item version of the Disabilities of Arm, Shoulder and Hand was 14 ± 14 points. The management of multidirectional shoulder instability in adolescent patients with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome is challenging. Open inferior capsular shift results in improvement in subjective and objective shoulder function and stability in adolescent patients with ligamentous hyperlaxity or Ehlers-Danlos who have failed nonoperative treatment. We found no effect of the recalled number of prior dislocations, laterality, and type of hyperlaxity on subjective and objective clinical outcomes. Level IV; Case Series; Treatment Study. Copyright © 2016 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome

DEFF Research Database (Denmark)

Kulas Søborg, Marie-Louise; Leganger, Julie; Quitzau Mortensen, Laura

2017-01-01

Objectives.: The aim of this study was to investigate national prevalence, general demographic characteristics and survival of Danish patients with Ehlers-Danlos syndrome (EDS). Method.: A population-based cohort study was conducted using a database consisting of the entire Danish population alive...

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

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Wolfe John

2011-06-01

Full Text Available Abstract Introduction Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues. We describe the case of a man who was found to have perforation of the sigmoid colon secondary to an undiagnosed connective tissue disorder (Ehlers-Danlos syndrome type IV while undergoing surveillance for hereditary non-polyposis colorectal cancer. Case presentation A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa peritonitis. A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common iliac artery aneurysm as well. Hartmann's procedure was performed during laparotomy. The patient recovered well post-operatively and was discharged. Reversal of the Hartmann's procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and fibrosis of the muscularis externa. The patient was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying collagen vascular disorder was suspected, and genetic testing revealed a mutation in the collagen type III, α1 (COL3A1 gene, which is consistent with a diagnosis of Ehlers-Danlos syndrome type IV. Conclusions Ehlers-Danlos syndrome type IV, the vascular type, is a rare disorder caused by mutations in the COL3A1 gene on chromosome 2q31. It is characterized by translucent skin, clubfoot, and the potentially fatal complications of spontaneous large vessel rupture, although spontaneous uterine and colonic perforations have also been reported in the

Postural Analysis in Time and Frequency Domains in Patients with Ehlers-Danlos Syndrome

Science.gov (United States)

Galli, Manuela; Rigoldi, Chiara; Celletti, Claudia; Mainardi, Luca; Tenore, Nunzio; Albertini, Giorgio; Camerota, Filippo

2011-01-01

The goal of this work is to analyze postural control in Ehlers-Danlos syndrome (EDS) participants in time and frequency domain. This study considered a pathological group composed by 22 EDS participants performing a postural test consisting in maintaining standing position over a force platform for 30 s in two conditions: open eyes (OE) and closed…

Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

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Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul Hh

2015-01-01

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

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Gui, Xinyu; Li, Fangda; Wu, Lingeer; Zheng, Yuehong

2016-07-01

Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS. © The Author(s) 2016.

Hemothorax in vascular Ehlers-Danlos syndrome.

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Álvarez, Kevin; Jordi, López; Jose Angel, Hernández

2017-10-16

Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs. A high level of clinical suspicion is required for diagnosis. It is a complex disease whose management requires a multidisciplinary team to treat the different complications that may occur. We report the case of a 50-year-old man diagnosed with EDS IV detected incidentally after hemothorax secondary to a coughing spell. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Cephalohematoma in a Patient with Ehlers-Danlos Syndrome

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Brent M Felton

2013-09-01

Full Text Available Ehlers-Danlos syndrome is a rarely encountered connective tissue disorder characterized by skin hyper-elasticity, joint hyper-flexibility, and vasculature fragility. We report a 41-year-old female presenting with scalp swelling following minor head trauma. The patient presented with a large cephalohematoma that despite compressive measures and Factor IX administration continued to progress, necessitating transfer for definitive surgical intervention. The patient underwent surgical evacuation of approximately 1 liter of blood, followed by drain placement and compression dressing. This case underscores the importance for emergency physicians to recognize the potential vascular catastrophes these patients may present with following even minor injury. [West J Emerg Med. 2013;14(5:419-420.

Relationship between Fatigue and Gait Abnormality in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

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Celletti, Claudia; Galli, Manuela; Cimolin, Veronica; Castori, Marco; Albertini, Giorgio; Camerota, Filippo

2012-01-01

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The…

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

NARCIS (Netherlands)

de Leeuw, K.; Goorhuis, J. F.; Tielliu, I. F. J.; Symoens, S.; Malfait, F.; de Paepe, A.; van Tintelen, J. P.; Hulscher, J. B. F.

A 9-year-old boy with the classical type of EhlersDanlos syndrome (EDS) developed a symptomatic aneurysm of the superior mesenteric artery. His EDS diagnosis had been confirmed biochemically and genetically. Vascular complications are known to be associated with the vascular type of EDS, but this is

Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III.

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Cheng, Jem L; Au, Jason S; Guzman, Juan C; Morillo, Carlos A; MacDonald, Maureen J

2017-04-01

The cardiovascular profile of postural orthostatic tachycardia syndrome + Ehlers-Danlos syndrome hypermobility type (POTS + EDSIII) has not been described, despite suggestions that it plays a role in orthostatic intolerance. We studied nine individuals diagnosed with POTS + EDSIII and found that the arterial stiffness and cardiac profiles of patients with POTS + EDSIII were comparable to those of age- and sex-matched controls, suggesting an alternate explanation for orthostatic intolerance.

Subclavian artery aneurysm in a patient with vascular Ehlers-Danlos syndrome.

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Yasuda, Shota; Imoto, Kiyotaka; Uchida, Keiji; Uranaka, Yasuko; Kurosawa, Kenji; Masuda, Munetaka

2016-02-01

We describe our experience of surgical treatment in a 28-year-old woman with vascular Ehlers-Danlos syndrome. A right subclavian artery aneurysm was detected. The right vertebral artery arose from the aneurysm. Digital subtraction angiography showed interruption of the left vertebral artery. The aneurysm was excised and the right vertebral artery was anastomosed end-to-side to the right common carotid artery under deep hypothermia and circulatory arrest. The patient remained very well 4 years after surgery, with no late vascular complication. © The Author(s) 2014.

CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

Science.gov (United States)

Anderson, Linda K

2015-07-01

Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome.

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DeBoard, Zach M; Eckhauser, Aaron W; Griffiths, Eric

2018-01-01

We report the case of a 4-year-old boy with Ehlers-Danlos syndrome undergoing single-ventricle palliation for an unbalanced atrioventricular canal defect. No reports of single-ventricle palliation in the setting of connective tissue disorders exist in the current literature. Unique findings on the patient's preoperative imaging included a disproportionately large neoaortic root and a regurgitant atrioventricular valve, which may foretell the need for future intervention. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Gait Pattern in Two Rare Genetic Conditions Characterized by Muscular Hypotonia: Ehlers-Danlos and Prader-Willi Syndrome

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Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters…

The Academic and Psychosocial Impacts of Ehlers-Danlos Syndrome on Postsecondary Students: An Integrative Review of the Literature

Science.gov (United States)

Giroux, Catherine M.; Corkett, Julie K.; Carter, Lorraine M.

2016-01-01

Ehlers-Danlos Syndrome (EDS) is a complex, often invisible, connective tissue disorder that has arguably profound psychosocial and academic impact on postsecondary students. It is an underdiagnosed and misunderstood condition that is the focus of little research, particularly within the social sciences. Several factors influence the academic…

Muscle characteristics and altered myofascial force transmission in tenascin-X-deficient mice, a mouse model of Ehlers-Danlos syndrome.

NARCIS (Netherlands)

Huijing, P.A.; Voermans, N.C.; Baan, G.C.; Buse, T.E.; Engelen, B.G.M. van; Haan, A. de

2010-01-01

The Ehlers-Danlos syndrome is a group of inherited connective tissue disorders caused by defects in collagens or tenascin-X (TNX). Muscle involvement can be expected based on interactions between muscle and extracellular matrix molecules; however, muscle function has not yet been investigated

Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome

DEFF Research Database (Denmark)

Møller, Mathias Bech; Kjær, Michael; Svensson, René Brüggebusch

2014-01-01

undergoing muscle strength training. We investigated patients with classical Ehlers Danlos Syndrome (EDS) (collagen type V defect) who display articular hypermobility, skin extensibility and tissue fragility. METHODS: subjects underwent strength training 3 times a week for 4 months and were tested before...... and after intervention in regards to muscle strength, tendon mechanical properties, and muscle function. RESULTS: three subjects completed the scheduled 48 sessions and had no major adverse events. Mean isometric leg extension force and leg extensor power both increased by 8 and 11% respectively (358 to 397...... sway-area of the participants decreased by 26% (0.144 to 0.108 m(2)). On the subscale of CIS20 the participants lowered their average subjective fatigue score from 33 to 25. CONCLUSION: in this small pilot study, heavy resistance training was both feasible and effective in classic Ehlers Danlos...

The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

DEFF Research Database (Denmark)

Engelbert, Raoul H; Juul-Kristensen, Birgit; Pacey, Verity

2017-01-01

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in managem......New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role...... in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment...

Fatal Peritoneal Bleeding Following Embolization of a Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV

International Nuclear Information System (INIS)

Usinskiene, Jurgita; Mazighi, Mikael; Bisdorff, Annouk; Houdart, Emmanuel

2006-01-01

We report the case of a 25-year-old woman treated for a spontaneous carotid-cavernous fistula in a context of Ehlers-Danlos syndrome type IV. Embolization with a transvenous approach was achieved without complications; however, the patient died 72 hr later of massive intraperitoneal bleeding. At autopsy, no lesion of the digestive arteries was identified. Possible causes of this bleeding are discussed

Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome.

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Vadysinghe, Amal Nishantha; Wickramashinghe, Chatula Usari; Nanayakkara, Dineshi Nadira; Kaluarachchi, Chandishni Ishara

2018-01-01

Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. A diagnosis of Ehlers-Danlos syndrome was established and physical child abuse was excluded. This case emphasizes the importance of identifying conditions which may confound the diagnosis of physical child abuse. This is of utmost importance in avoiding adverse legal and psycho-social implications on the child, family and society.

Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome.

Science.gov (United States)

Kim, Jeong Gyun; Cho, Won-Sang; Kang, Hyun-Seung; Kim, Jeong Eun

2014-02-01

Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.

Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type

DEFF Research Database (Denmark)

Johannessen, Elise Christine; Reiten, Helle Sundnes; Løvaas, Helene

2016-01-01

Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey...

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Science.gov (United States)

Kuroda, Yukiko; Ohashi, Ikuko; Naruto, Takuya; Ida, Kazumi; Enomoto, Yumi; Saito, Toshiyuki; Nagai, Jun-Ichi; Kurosawa, Kenji

2018-03-09

Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2-11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12-67 of COL5A1. © 2018 Japanese Teratology Society.

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

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Ana Rosa Rincón-Sánchez

2012-04-01

Full Text Available Ehlers-Danlos syndrome (EDS is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria. Dermatosparaxis (meaning ‘tearing of skin’, which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

Recurrent Congenital Diaphragmatic Hernia in Ehlers-Danlos Syndrome

International Nuclear Information System (INIS)

Lin, I.C.; Ko, S.F.; Shieh, C.S.; Huang, C.F.; Chien, S.J.; Liang, C.D.

2006-01-01

Ehlers-Danlos syndrome (EDS) includes a group of connective tissue disorders with abnormal collagen metabolism and a diverse clinical spectrum. We report two siblings with EDS who both presented with congenital diaphragmatic hernia (CDH). The elder sister suffered from recurrent diaphragmatic hernia twice and EDS was overlooked initially. Echocardiography as well as contrast-enhanced magnetic resonance angiography (MRA) showed dilatation of the pulmonary artery, and marked elongation and tortuosity of the aorta and its branches. A diagnosis of EDS was eventually established when these findings were coupled with the clinical features of hyperelastic skin. Her younger brother also had similar features. This report emphasizes that EDS may present as CDH in a small child which could easily be overlooked. Without appropriate surgery, diaphragmatic hernia might occur. Echocardiographic screening is recommended in patients with CDH. Contrast-enhanced MRA can be helpful in delineation of abnormally tortuous aortic great vessels that are an important clue to the early diagnosis of EDS

The Effects of Muscle Hypotonia and Weakness on Balance: A Study on Prader-Willi and Ehlers-Danlos Syndrome Patients

Science.gov (United States)

Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…

Reverse-namaskar: A new sign in Ehlers-Danlos syndrome: A family pedigree study of four generations

Directory of Open Access Journals (Sweden)

Premalatha S

2010-01-01

Full Text Available Ehlers-Danlos Syndrome (EDS is a rare group of inheritable connective tissue disorder of defective collagen. Skin, joints and blood vessels are most commonly affected. Clinical signs such as Gorlin sign and Metenier sign have been described in this syndrome. We report another new clinical sign called ′Reverse-Namaskar′ sign as an important clinical finding in EDS, based on the family pedigree study of the proband.

Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment

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Tesiorowski Maciej

2010-11-01

Full Text Available Abstract Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. Methods This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Results The mean follow up period was 5.5 ± 2.9 years (range 1-10 years. The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142° and 75.6 ± 26.7° (range 40° - 108° respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105° and 58.5 ± 27.7° (range 10° - 95° respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4% and 26.3 ± 21.2% (range 7.9 - 75%. Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°, and lordosis was 50.8 ± 18.6° (range 20° -79°. Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15° postoperatively and did not change significantly during follow up. Conclusions Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group.

Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome

Science.gov (United States)

Kim, Jeong Gyun; Cho, Won-Sang; Kim, Jeong Eun

2014-01-01

Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure. PMID:24653803

Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2

OpenAIRE

Maraj, Hemant; Mohajer, Michelle; Bhattacharjee, Deepannita

2011-01-01

We present the case of a 31-year-old woman with Ehler-Danlos syndrome (EDS) type 2. She had a previous caesarean section and went on to have an uncomplicated vaginal birth in her last pregnancy. To our knowledge, this is the first case of a successful vaginal birth after caesarean section in a patient with EDS. EDS is a multisystem disorder involving a genetic defect in collagen and connective-tissue synthesis and structure. It is a heterogeneous group of 11 different inherited disorders. Obs...

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

NARCIS (Netherlands)

van Dijk, Fleur S.; Mancini, Grazia M. S.; Maugeri, Alessandra; Cobben, Jan M.

2017-01-01

We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital)

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Science.gov (United States)

Lu, Yanqin; Wang, Yanzhou; Rauch, Frank; Li, Hu; Zhang, Yao; Zhai, Naixiang; Zhang, Jian; Ren, Xiuzhi; Han, Jinxiang

2018-02-01

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers. These findings have expanded the genotypic spectrum of the OI/EDS overlap syndrome.

[The Ehlers-Danlos syndrome: hystory of a clinical hendiadys].

Science.gov (United States)

Brazzaventre, Cristina; Celletti, Claudia; Gobattoni, Paolo; Santilli, Valter; Camerota, Filippo

2013-01-01

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility, which results in easy bruising and abnormal scarring. The condition shows a phenotypic variance from milder to serious presentations. Complaints related to activity (hypermobility, dislocations, impaired balance), to pain (general pain, headache, jaw and tooth pain) and to skin (bruises, fragility, impaired wound healing) are frequent. It was first noted by Hippocrates in 400 BC in his writing 'Airs Water and Places' that the nomads Scythians had lax joints and multiple scars. Whereas the additional flexibility can give benefits in term of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences. We recognize that it is important that, in those hypermobility patients, who develop potentially debilitating symptoms of chronicfatigue or widespread pain, there should be prompt an appropriate intervention.

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an ehlers-danlos VIA patient

NARCIS (Netherlands)

Walker, L.C.; Overstreet, M.A.; Siddiqui, A.; Paepe, A. de; Ceylaner, G.; Malfait, F.; Symoens, S.; Atsawasuwan, P.; Yamauchi, M.; Ceylaner, S.; Bank, R.A.; Yeowell, H.N.

2005-01-01

The clinical diagnosis of a patient with the phenotype of Ehlers-Danlos syndrome type VI was confirmed biochemically by the severely diminished level of lysyl hydroxylase (LH) activity in the patient's skin fibroblasts. A novel homozygous mutation, a single base change of T1360 → G in exon 13 of the

[Ehler-Danlos syndrome type VIII].

Science.gov (United States)

Ciarloni, L; Perrigouard, C; Lipsker, D; Cribier, B

2010-03-01

Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late. A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII. Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded. Copyright 2009 Elsevier Masson SAS. All rights reserved.

The Evidence-Based Rationale for Physical Therapy Treatment of Children, Adolescents, and Adults Diagnosed With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome

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Engelbert, Raoul H. H.; Juul-Kristensen, Birgit; Pacey, Verity; de Wandele, Inge; Smeenk, Sandy; Woinarosky, Nicoleta; Sabo, Stephanie; Scheper, Mark C.; Russek, Leslie; Simmonds, Jane V.

2017-01-01

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management

Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

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Filipa Pereira

2015-01-01

Full Text Available Ehlers-Danlos syndrome (EDS is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS is an autosomal dominant disorder caused by heterozygous mutations in the COL3A1 gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome.

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Tokue, Masahide; Hara, Hidehiko; Kurosawa, Kenji; Nakamura, Masato

2017-09-23

Vascular Ehlers-Danlos Syndrome (vEDS) is a dominantly inherited connective tissue disorder characterised by colon rupture and arterial aneurysm, dissection and rupture. A patient was diagnosed with vEDS after a spontaneous colon rupture when he was brought to our institute because of sudden chest pain. An ECG revealed wide regional ST elevation, which was initially suggestive of acute myocarditis. On the second day, haemodynamics suddenly deteriorated because of a rapid accumulation of bloody pericardial effusion, and the patient died. Autopsy revealed an excessive spontaneous myocardial haemorrhage owing to fragility, which suggested an underlying disease-vEDS. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Measuring Regularity of Human Postural Sway Using Approximate Entropy and Sample Entropy in Patients with Ehlers-Danlos Syndrome Hypermobility Type

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Rigoldi, Chiara; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Mainardi, Luca; Galli, Manuela

2013-01-01

Ligament laxity in Ehlers-Danlos syndrome hypermobility type (EDS-HT) patients can influence the intrinsic information about posture and movement and can have a negative effect on the appropriateness of postural reactions. Several measures have been proposed in literature to describe the planar migration of CoP over the base of support, and the…

The 2017 international classification of the Ehlers-Danlos syndromes

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Malfait, Fransiska; Francomano, Clair; Byers, Peter H

2017-01-01

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six s...... that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc......., and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic...... revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope...

Total pleural covering technique for intractable pneumothorax in patient with Ehlers-Danlos syndrome.

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Kadota, Yoshihisa; Fukui, Eriko; Kitahara, Naoto; Okura, Eiji; Ohta, Mitsunori

2016-07-01

We report a patient with vascular-type Ehlers-Danlos syndrome (vEDS) who developed pneumothorax and was treated with a total pleural covering technique (TPC). A 24-year-old man developed repeat pneumothorax with intermittent hemo-sputum. Based on unusual radiological manifestations of lung lesions and physical findings, EDS was suspected as an underlying cause of the pneumothorax. Surgical treatment was performed using a mediastinal fat pad and TPC, and no relapse was seen up to 2 years after surgery. TPC is a less invasive surgical approach for selected patients with vEDS. Accurate underlying diagnosis of vEDS and systemic evaluation of vascular complications are necessary before planning surgery.

Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome

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Jeffrey M. Carness

2018-01-01

Full Text Available We report the administration of spinal anaesthesia for cesarean delivery in a parturient with vascular Ehlers-Danlos syndrome. Parturients who genetically inherit this disorder are at risk for significant morbidity and mortality. Risks during pregnancy include premature labor, uterine prolapse, and uterine rupture. Additionally, such laboring parturients are at increased risk of hemodynamic volatility, vascular stress, and severe postpartum hemorrhage. Instrumented delivery and cesarean delivery bring additional risks. Nonpregnancy-related complications include excessive bleeding, intestinal rupture, cardiac valvular dysfunction, and arterial dissection. Despite the complexity of this condition, literature focusing on specific intraoperative anaesthetic management is sparse.

Nuss procedure for a case of asymmetric pectus excavatum associated with Ehlers-Danlos syndrome

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Kazunori Masahata

2017-07-01

Full Text Available Ehlers-Danlos syndrome (EDS is an inherited connective tissue disorder that is often associated with pectus excavatum (PE. The Nuss procedure, which is a minimally invasive approach for the treatment of PE achieves good functional and cosmetic outcomes. We experienced a case of EDS-associated asymmetric PE that was corrected by the Nuss procedure using chondrotomy of the costal cartilages. After this procedure, an excellent chest appearance was achieved. Our experience suggests that the repair of PE can be accomplished safely in EDS patients and that this procedure can achieve good cosmetic results in patients with asymmetric PE.

Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

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D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

2017-04-19

The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.

Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.

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Gu, Guangchao; Yang, Hang; Cui, Lijia; Fu, Yuanyuan; Li, Fangda; Zhou, Zhou; Zheng, Yuehong

2018-02-01

Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him. To our knowledge, this is the first report of vEDS case in which the patient developed both pulmonary complications and dissection of large arteries. Our report emphasizes the importance of considering vEDS when an adolescent develops unexplained pulmonary cysts with fragility of lung tissues. Genetic counseling and close monitoring should be performed for earlier diagnosis and prevention of severe complications of large arteries. The typical presentations of vEDS were also discussed by means of a review of case reports on vEDS with pulmonary complications.

Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type: A Kinematic and Kinetic Evaluation Using 3D Gait Analysis

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Galli, Manuela; Cimolin, Veronica; Rigoldi, Chiara; Castori, Marco; Celletti, Claudia; Albertini, Giorgio; Camerota, Filippo

2011-01-01

The aim of this study was to quantify the gait patterns of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome (JHS/EDS-HT) hypermobility type, using Gait Analysis. We quantified the gait strategy in 12 JHS/EDS-HT adults individuals (age: 43.08 + 6.78 years) compared to 20 healthy controls (age: 37.23 plus or minus 8.91 years), in…

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

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Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-Ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

2016-01-01

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].

Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation.

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Nourissat, Geoffroy; Vigan, Marie; Hamonet, Claude; Doursounian, Levon; Deranlot, Julien

2018-01-01

Shoulder dislocation is often the first symptom of Ehlers-Danlos syndrome (EDS). Whether it occurs in early-onset EDS is unknown. In most cases, surgical failure leads to the diagnosis. We aimed to determine whether clinical symptoms can signal the presence of EDS at a first dislocation. In this retrospective study, we analyzed clinical and radiologic data for 27 patients with EDS and shoulder instability and a control population of 40 consecutive non-EDS patients undergoing surgery for an unstable shoulder. Data were collected on gender, age, single or bilateral disease, general hyperlaxity, shoulder hyperlaxity, number of dislocations or subluxations, nontraumatic onset, and pain specificity. Nerve and vascular injuries, joint disorders, and family history were recorded, and radiologic data were reported. Age 85°) did not differ between the groups. After a first dislocation in a young girl with global hyperlaxity but not necessarily shoulder hyperlaxity, painless atraumatic dislocation with pain after reduction can suggest EDS. Copyright © 2018. Published by Elsevier Inc.

Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review.

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Baeza-Velasco, Carolina; Bulbena, Antonio; Polanco-Carrasco, Roberto; Jaussaud, Roland

2018-01-22

Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. In this context and in accordance with the contemporary conceptualization of pain (biopsychosocial perspective), the identification of psychological aspects involved in the pain experience can be useful to improve interventions for this under-recognized pathology. Review of the literature on joint hypermobility and EDS hypermobility-type concerning psychological factors linked to pain chronicity and disability. A comprehensive search was performed using scientific online databases and references lists, encompassing publications reporting quantitative and qualitative research as well as unpublished literature. Despite scarce research, psychological factors associated with EDS hypermobility-type that potentially affect pain chronicity and disability were identified. These are cognitive problems and attention to body sensations, negative emotions, and unhealthy patterns of activity (hypo/hyperactivity). As in other chronic pain conditions, these aspects should be more explored in EDS hypermobility-type, and integrated into chronic pain prevention and management programs. Implications for Rehabilitation Clinicians should be aware that joint hypermobility may be associated with other health problems, and in its presence suspect a heritable disorder of connective tissue such as the Ehlers-Danlos syndrome (EDS) hypermobility-type, in which chronic pain is one of the most frequent and invalidating symptoms. It is necessary to explore the psychosocial functioning of patients as part of the overall chronic pain management in the EDS hypermobility

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

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Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

2018-01-01

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type: Review of the Literature

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Indranil Dutta

2011-01-01

Full Text Available Ehlers-Danlos syndrome (EDS is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases.

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Patzkowski, Michael S

2016-03-01

Ehlers-Danlos syndrome is an inherited disorder of collagen production that results in multiorgan dysfunction. Patients with hypermobility type display skin hyperextensibility and joint laxity, which can result in chronic joint instability, dislocation, peripheral neuropathy, and severe musculoskeletal pain. A bleeding diathesis can be found in all subtypes of varying severity despite a normal coagulation profile. There have also been reports of resistance to local anesthetics in these patients. Several sources advise against the use of regional anesthesia in these patients citing the 2 previous features. There have been reports of successful neuraxial anesthesia, but few concerning peripheral nerve blocks, none of which describe nerves of the lower extremity. This report describes 2 cases of successful peripheral regional anesthesia in the lower extremity. In case 1, a 16-year-old adolescent girl with hypermobility type presented for osteochondral grafting of tibiotalar joint lesions. She underwent a popliteal sciatic (with continuous catheter) and femoral nerve block under ultrasound guidance. She proceeded to surgery and tolerated the procedure under regional block and intravenous sedation. She did not require any analgesics for the following 15 hours. In case 2, an 18-year-old woman with hypermobility type presented for medial patellofemoral ligament reconstruction for chronic patella instability. She underwent a saphenous nerve block above the knee with analgesia in the distribution of the saphenous nerve lasting for approximately 18 hours. There were no complications in either case. Prohibitions against peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type, appear unwarranted. Published by Elsevier Inc.

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

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Castori, Marco; C. Voermans, Nicol

2014-01-01

The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331

Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: a revision of the rehabilitative approach

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Claudia Celletti

2016-09-01

Full Text Available Joint hypermobility syndrome (JHS and Ehlers-Danlos syndrome, hypermobility type (EDS-HT are two clinically overlapping heritable connective tissue disorders strongly associating with pain, fatigue and other secondary aspects. No specific treatment exist for this syndrome and rehabilitation play a role in the management of these patients. The aim of this paper is to evaluate what are the evidence in literature about rehabilitation. Research was done using database PUBMED and consist in a revision of the studies published in the last 15 years. All studies agree to the beneficial role of the rehabilitative treatment and physical therapy but it’s necessary to add more further studies to establish a high quality, evidence-based physical therapy for this specific population.

The impaired proprioception in Ehlers-Danlos Syndrome-Hypermobility Type/Joint hypermobility Syndrome: the rehabilitation role

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Filippo Camerota

2015-10-01

Full Text Available Ehlers-Danlos Syndrome Hypermobility Type/Joint Hypermobility Syndrome (JHS/EDS-HT is an hereditary disorder of the connective tissue mainly manifesting with generalized joint hypermobility and skin hyperextensibility with an involvement of the connective tissue matrix proteins. Collagen alterations may influence the quality of movement in these patients but also movement has a role for the collagen quality: motion has a prevention role in the formation of contractures and adhesions. A poor sense of proprioception correlated with the collagenous connective tissues alterations could explain why people with JHS/EDS-HT become injured, having a lack of sensation of the joint at the end of the range. Rehabilitation approach may consider all these aspects.

An Isolated Pulmonary Hematoma Mimicking a Lung Tumor as the Initial Finding of Vascular Ehlers-Danlos Syndrome

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Kang, Eun Ju; Lee, Ki Nam; Choi, Pil Jo [Dept. of Radiology, Dong-A University Medicine Center, Dong-A University College of Medicine, Busan (Korea, Republic of); Ki, Chang Seok [Dept. of Radiology, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2012-09-15

The vascular type of Ehlers-Danlos syndrome (vEDS) is an uncommon inherited disorder characterized by abnormalities in type III collagen, presenting itself as arterial dissection or rupture. We report a case of an isolated pulmonary hematoma mimicking a lung tumor in an 18-year-old man which turned out to be the initial finding of vEDS. Pneumothorax and hemothorax occurred repeatedly for 15 months following the surgical removal of the mass, and were treated by repeated left upper and lower lobectomy and thoracotomy. The diagnosis of vEDS was confirmed by pathologic and genetic studies.

An Isolated Pulmonary Hematoma Mimicking a Lung Tumor as the Initial Finding of Vascular Ehlers-Danlos Syndrome

International Nuclear Information System (INIS)

Kang, Eun Ju; Lee, Ki Nam; Choi, Pil Jo; Ki, Chang Seok

2012-01-01

The vascular type of Ehlers-Danlos syndrome (vEDS) is an uncommon inherited disorder characterized by abnormalities in type III collagen, presenting itself as arterial dissection or rupture. We report a case of an isolated pulmonary hematoma mimicking a lung tumor in an 18-year-old man which turned out to be the initial finding of vEDS. Pneumothorax and hemothorax occurred repeatedly for 15 months following the surgical removal of the mass, and were treated by repeated left upper and lower lobectomy and thoracotomy. The diagnosis of vEDS was confirmed by pathologic and genetic studies.

Ehlers-Danlos syndrome type IV : unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

NARCIS (Netherlands)

Kroes, HY; Pals, G; van Essen, AJ

A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

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Jukkola, A; Kauppila, S; Risteli, L; Vuopala, K; Risteli, J; Leisti, J; Pajunen, L

1998-01-01

We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The chi...

Single-catheter approach for ablation of the slow pathway in a patient with type IV Ehlers-Danlos syndrome and AV nodal reentrant tachycardia using a magnetic navigation system

NARCIS (Netherlands)

T. Szili-Torok (Tamas); E. Jessurun; L.J.L.M. Jordaens (Luc)

2008-01-01

textabstractPatients with Ehlers-Danlos syndrome type IV have thin-walled, friable arteries and veins. Invasive procedures carry a significantly increased risk for perforation of blood vessels. The aim of this case report is to demonstrate the feasibility and potential benefits of using a

Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type.

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Hakim, Alan; De Wandele, Inge; O'Callaghan, Chris; Pocinki, Alan; Rowe, Peter

2017-03-01

Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems. Other problems that commonly contribute to fatigue in EDS include sleep disorders, chronic pain, deconditioning, cardiovascular autonomic dysfunction, bowel and bladder dysfunction, psychological issues, and nutritional deficiencies. While there is no specific pharmacological treatment for fatigue, many medications are effective for specific symptoms (such as headache, menstrual dysfunction, or myalgia) and for co-morbid conditions that result in fatigue, including orthostatic intolerance and insomnia. Comprehensive treatment of fatigue needs to also evaluate for biomechanical problems that are common in EDS, and usually involves skilled physical therapy and attention to methods to prevent deconditioning. In addition to managing specific symptoms, treatment of fatigue in EDS also needs to focus on maintaining function and providing social, physical, and nutritional support, as well as providing on-going medical evaluation of new problems and review of new evidence about proposed treatments. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Arterial complications of vascular Ehlers-Danlos syndrome.

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Eagleton, Matthew J

2016-12-01

Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the medium-sized arteries. Complications involving the hollow organs, such as spontaneous colonic perforation, are observed as well. Given the fragility of the soft tissue, open and endovascular intervention on patients with vascular EDS is fraught with high complication rates. A PubMed search was performed to identify manuscripts published related to vascular EDS. This search included more than 747 articles. These findings were cross-referenced using key terms, including endovascular, embolization, surgery, genetics, pathophysiology, connective tissue disorders, vascular complications, systematic review, type III collagen, and COL3A1. The references in key articles and review articles were evaluated for additional resources not identified in the PubMed search. Care must be taken to balance the risk of intervention vs the risk of continued observation. Life-threatening hemorrhage, however, mandates intervention. With careful, altered approaches to tissue handling, endovascular approaches may provide a safer option for managing the arterial complications observed in patients with vascular EDS. Additional hope may also be found in the use of pharmacologic agents that reduce the incidence and severity of the arterial complications. Copyright © 2016 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.

Endovascular Treatment of a Carotid Dissecting Pseudoaneurysm in a Patient with Ehlers-Danlos Syndrome Type IV with Fatal Outcome

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Lim, Siok Ping; Duddy, Martin J.

2008-01-01

We present a patient with Ehlers-Danlos syndrome type IV (EDS IV) with a carotid dissecting pseudoaneurysm causing severe carotid stenosis. This lesion was treated endovascularly. Unfortunately, the patient died of remote vascular catastrophes (intracranial hemorrhage and abdominal aortic rupture). This unique case illustrates the perils of endovascular treatment of EDS IV patients and the need for preoperative screening for concomitant lesions. It also shows that a dissecting pseudoaneurysm can feasibly be treated with a covered stent and that closure is effective using Angioseal in patients with EDS IV

Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

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Anna Rocci

2015-03-01

Full Text Available We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS that was confirmed by genetic analysis of COL3A1 gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence.

Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

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Baeza-Velasco, Carolina; Van den Bossche, Thomas; Grossin, Daniel; Hamonet, Claude

2016-06-01

Joint Hypermobility Syndrome, also known as Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT), is a heritable disorder of connective tissue, common but poorly known by the medical community. Although generalized joint hypermobility and fragility of tissues have been described as core features, recent research highlights the multisystemic nature of JHS/EDS-HT, which presents with a wide range of articular and extra-articular symptoms. Among these, gastrointestinal problems, temporomandibular disorders, and smell and taste abnormalities are common among those affected, having significant implications for eating. The present work reviews the literature linking JHS/EDS-HT and eating problems. Two illustrative case reports, in which JHS/EDS-HT manifestations contribute to developing and maintaining disturbed eating behaviors and significant weight loss, are presented.

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.

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Busch, Albert; Hoffjan, Sabine; Bergmann, Frauke; Hartung, Birgit; Jung, Helena; Hanel, Daniela; Tzschach, Andeas; Kadar, Janos; von Kodolitsch, Yskert; Germer, Christoph-Thomas; Trobisch, Heiner; Strasser, Erwin; Wildenauer, René

2016-08-03

The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations. 22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods. Results show a high prevalence of over 50 % for platelet aggregation disorders in vascular type EDS patients, especially for collagen and epinephrine induced tests, whereas the plasmatic cascade did not show any alterations. Additionally, more than half of the tested subjects showed low vitamin D serum levels, which might additionally affect vascular wall integrity. The presented data underline the importance of detailed laboratory screening methods in vascular type EDS patients in order to allow for targeted application of platelet-interacting substances that might be of decisive benefit in the emergency setting.

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.

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Cortini, Francesca; Marinelli, Barbara; Romi, Silvia; Seresini, Agostino; Pesatori, Angela Cecilia; Seia, Manuela; Montano, Nicola; Bassotti, Alessandra

2017-04-01

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

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2011-01-01

Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal. Methods We describe the clinical, biochemical and molecular characterisation, as well as electron microscopy findings of skin, in 15 patients newly diagnosed with this rare type of Ehlers-Danlos syndrome. Results Age at diagnosis ranged from 5 months to 27 years, with only 1/3 of the patients been diagnosed correctly in the first year of life. A similar disease frequency was found in females and males, however a broad disease severity spectrum (intra- and interfamilial), independent of molecular background or biochemical phenotype, was observed. Kyphoscoliosis, one of the main clinical features was not present at birth in 4 patients. Importantly we also noted the occurrence of vascular rupture antenatally and postnatally, as well as developmental delay in 5 patients. Conclusion In view of these findings we propose that EDS VIA is a highly variable clinical entity, presenting with a broad clinical spectrum, which may also be associated with cognitive delay and an increased risk for vascular events. Genotype/phenotype association studies and additional molecular investigations in more extended EDS VIA populations will be necessary to further elucidate the cause of the variability of the disease severity. PMID:21699693

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA: clinical, molecular and biochemical delineation

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Kariminejad Ariana

2011-06-01

Full Text Available Abstract Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA (OMIM 225400 is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4 due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP and hydroxylysyl pyridinoline (HP crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal. Methods We describe the clinical, biochemical and molecular characterisation, as well as electron microscopy findings of skin, in 15 patients newly diagnosed with this rare type of Ehlers-Danlos syndrome. Results Age at diagnosis ranged from 5 months to 27 years, with only 1/3 of the patients been diagnosed correctly in the first year of life. A similar disease frequency was found in females and males, however a broad disease severity spectrum (intra- and interfamilial, independent of molecular background or biochemical phenotype, was observed. Kyphoscoliosis, one of the main clinical features was not present at birth in 4 patients. Importantly we also noted the occurrence of vascular rupture antenatally and postnatally, as well as developmental delay in 5 patients. Conclusion In view of these findings we propose that EDS VIA is a highly variable clinical entity, presenting with a broad clinical spectrum, which may also be associated with cognitive delay and an increased risk for vascular events. Genotype/phenotype association studies and additional molecular investigations in more extended EDS VIA populations will be necessary to further elucidate the cause of the variability of the disease severity.

Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

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Hermanns-Lê, Trinh; Reginster, Marie-Annick; Piérard-Franchimont, Claudine; Delvenne, Philippe; Piérard, Gérald E.; Manicourt, Daniel

2012-01-01

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH. PMID:23091361

Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

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Trinh Hermanns-Lê

2012-01-01

Full Text Available The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH and the benign joint hypermobility syndrome (BJHS is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

Pregnancy with aortic dissection in Ehler-Danlos syndrome. Staged replacement of the total aorta (10-year follow-up).

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Babatasi, G; Massetti, M; Bhoyroo, S; Khayat, A

1997-10-01

Pregnancy complicated by aortic dissection in patients with hereditary disorder of connective tissue presents interesting considerations including management of caesarean section with the unexpected need for cardiac surgery in emergency. Generalizations can be made on management principles with long-term follow-up requiring an aggressive individualized approach by a multidisciplinary team. A 33-year-old parturient presenting an aortic dissection at 37 weeks gestation required prompt diagnosis of Ehlers-Danlos syndrome in combination with correct surgical therapy resulted in the survival of both the mother and infant. During the 10-year follow-up, multiple complex dissection required transverse aortic arch and thoracoabdominal aortic replacement.

Complexities of management of a urostomy in Ehlers-Danlos syndrome: a reflective account.

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Oxenham, Julie

Mary (pseudonym) is a 30-year-old woman who underwent a urinary diversion and formation of an ileal conduit/urostomy (urinary stoma) due to the formation of multiple bladder diverticula, which caused micturition difficulties and recurrent urinary tract infections with associated pain and discomfort. The bladder diverticula were caused by Ehlers-Danlos syndrome (EDS), a hereditary disorder of the connective tissue or, particulary, defective collagen. Surgical intervention in patients with EDS is prone to complications due to poor wound healing, including issues of dehiscence, postoperative bleeding and poor uptake of anaesthesia and analgesia. After an initial presentation of the syndrome of EDS and Mary's history, this article offers a reflective account (informed by Gibbs' Reflective Cycle) and illustrates the complexities of caring for an individual with EDS who undergoes stoma formation. The author, a stoma care nurse, demonstrates how using purposeful reflection resulted in better understanding and awareness of caring for an individual with a rare syndrome and the nursing challenges this presented.

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

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2014-01-01

Ehlers-Danlos syndrome (EDS, ORPHA98249) comprises a group of clinically and genetically heterogeneous heritable connective tissue disorders, chiefly characterized by joint hypermobility and instability, skin texture anomalies, and vascular and soft tissue fragility. As many tissues can be involved, the underlying molecular defect can manifest itself in many organs and with varying degrees of severity, with widespread implications for anesthesia and perioperative management. This review focuses on issues relevant for anesthesia for elective and emergency surgery in EDS. We searched the literature for papers related to all EDS variants; at the moment most of the published data deals with the vascular subtype and, to a lesser extent, classic and hypermobility EDS. Knowledge is fragmented and consists mostly of case reports, small case series and expert opinion. Because EDS patients commonly require surgery, we have summarized some recommendations for general, obstetrical and regional anesthesia, as well as for hemostatic therapy. PMID:25053156

Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

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Akira Yoneda

2014-05-01

Full Text Available Ehlers-Danlos syndrome, vascular type (vEDS (MIM #130050 is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp.

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

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Melis Daniela

2012-11-01

Full Text Available Abstract Ehlers Danlos syndrome (EDS athrocalasia type (type VII, is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B. The abnormally processed collagen α2(I and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B. We describe a seven-year old female, with a phenotype consistent with EDS type VII B and a diagnosis further confirmed by biochemical and molecular analyses. Cardiac ultrasound showed normal data in the first year of life. When she was 5 years old, the patient developed mitral valve regurgitation, and aortic and tricuspidal insufficiency at 7 years of age. To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B. This feature probably has been underreported for the limited follow-up of the patients. Echocardiography might be warranted in the clinical assessment of EDS VII patients.

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

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Amel Karaa

2013-01-01

Full Text Available The Ehlers Danlos syndromes (EDS comprise a group of connective tissue disorders characterized by tissue fragility of the skin, ligaments, blood vessels and internal organs. Variable degrees of clinical severity and organ involvement are due to the molecular and biochemical heterogeneity of this group of disorders and have led to classification into well-characterized subtypes that are extending with the discovery of new genes and overlapping syndrome. Types include classical EDS (EDS I/II, hypermobility EDS (EDS III, vascular EDS (EDS IV, kyphoscoliosis EDS (EDS VI, arthrochalasia (EDS VIIA, B and Dermatospraxis (EDS VIIC. Even to the well trained professional, the diagnosis of EDS remains a challenge due to overlapping symptoms and cases can remain without a well-defined classification. Life altering complications of this group of disorders include vascular and hollow organ rupture and ligamentous laxity leading to chronic dislocation with ensuing pain and long term disability. Patients initially present to the general practitioner who is expected to recognize the symptoms of EDS and to proceed with appropriate referral for definitive diagnosis and management to prevent devastating complications. In this paper, we describe a male with classical EDS complicated by devastating vascular and orthopedic events.

Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties

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Desal, H.A.; Toulgoat, F.; Raoul, S.; Guillon, B.; Bommard, S.; Naudou-Giron, E.; Auffary-Calvier, E.; Kersaint-Gilly, A. de [Department of Neuroradiology, Laennec Hospital, University of Nantes (France); 1

2005-04-01

We report the follow-up of a previously published case (Forlodou et al. Neuroradiology 38:595-597, 1996) of carotido-cavernous fistulas (CCFs) in a patient presenting with type IV Ehlers-Danlos syndrome (EDS 4) that were successfully treated twice by an endovascular approach. Initial treatment with a detachable balloon was in 1994 for a right CCF, and, 8 years later, a left CCF was treated by selective transarterial occlusion of the cavernous sinus with coils. Unfortunately, the patient suffered from a spontaneous post-operative intracranial haemorrhage in the left hemisphere and died. Review of the literature, technical considerations for bilateral CCF and complication are discussed.

Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties

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Desal, H.A.; Toulgoat, F.; Raoul, S.; Guillon, B.; Bommard, S.; Naudou-Giron, E.; Auffary-Calvier, E.; Kersaint-Gilly, A. de

2005-01-01

We report the follow-up of a previously published case (Forlodou et al. Neuroradiology 38:595-597, 1996) of carotido-cavernous fistulas (CCFs) in a patient presenting with type IV Ehlers-Danlos syndrome (EDS 4) that were successfully treated twice by an endovascular approach. Initial treatment with a detachable balloon was in 1994 for a right CCF, and, 8 years later, a left CCF was treated by selective transarterial occlusion of the cavernous sinus with coils. Unfortunately, the patient suffered from a spontaneous post-operative intracranial haemorrhage in the left hemisphere and died. Review of the literature, technical considerations for bilateral CCF and complication are discussed

Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms.

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Lee, Michelle; Strand, Mattias

2018-03-01

The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa. Because of the large clinical heterogeneity, correctly identifying symptoms of EDS presents a challenge for clinicians, who should be aware of this group of underdiagnosed and potentially serious syndromes. The Beighton Hypermobility Score is an easily applicable screening instrument in assessing potential EDS in patients with joint hypermobility. © 2017 Wiley Periodicals, Inc.

ABNORMAL TYPE-III COLLAGEN PRODUCED BY AN EXON-17-SKIPPING MUTATION OF THE COL3A1 GENE IN EHLERS-DANLOS SYNDROME TYPE-IV IS NOT INCORPORATED INTO THE EXTRACELLULAR-MATRIX

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CHIODO, AA; SILLENCE, DO; COLE, WG; BATEMAN, JF

1995-01-01

A novel heterozygous mutation of the COL3Al gene that encodes the alpha 1(III) chains of type III collagen was identified in a family with the: acrogeric form of Ehlers-Danlos syndrome type IV (EDS-IV). Cultured dermal fibroblasts produced normal and shortened alpha 1(III) chains. The triple helix

Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.

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Verrotti, Alberto; Monacelli, Debora; Castagnino, Miriam; Villa, Maria Pia; Parisi, Pasquale

2014-11-01

Ehlers-Danlos syndrome (EDS) comprises a variety of inherited connective tissue disorders that have been described in association with various neurological features. Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible association between EDS, epilepsy and periventricular heterotopia (PH). We have carried out a critical review of all cases of epilepsy in EDS patients with and without PH. Epilepsy is a frequent neurological manifestation of EDS; generally, it is characterized by focal seizures with temporo-parieto-occipital auras and the most common EEG findings epileptiform discharges and slow intermittent rhythm with delta-theta waves. Epilepsy in EDS patients is usually responsive to common antiepileptic therapy; very few cases of drug resistant focal epilepsy requested surgical treatment, with favorable results in terms of outcome. Epilepsy is the most common presenting neurological manifestation associated with PH in EDS patients. Abnormal anatomic circuitries (including heterotopic nodules) could generate epilepsy in patients with PH. Among the principal neurological manifestations, epilepsy and PH have a considerable importance and can influence the long-term evolution of these patients. We hypothesize that PH may determine the epileptic manifestations in patients with EDS; much remains to be learnt about the relationships between nodules and the epileptic manifestations in EDS syndrome. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Internal carotid artery dissection in a patient with Ehlers-Danlos syndrome type IV: diagnosis and management

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Michel Nasser

2013-06-01

Full Text Available Ehlers-Danlos syndrome (EDS type IV, also known as vascular EDS, is an inherited connective tissue disorder with an estimated prevalence of 1/100,000 to 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV for whom the diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended.

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.

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Fukuda, Yoshihisa; Higuchi, Yusuke; Shinozaki, Kanae; Tanigawa, Yuji; Abe, Taro; Hanaoka, Nobuyoshi; Matsubayashi, Sunao; Yamaguchi, Tomomi; Kosho, Tomoki; Nakamichi, Koji

2017-10-15

Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum. She was finally discharged with a dramatic resolution of her symptoms after laparoscopic cecopexy for mobile cecum.

[Severe Mast Cell Activation Syndrome in a 15-year-old patient with an hypermobile Ehlers-Danlos syndrome].

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Daens, S; Grossin, D; Hermanns-Lê, T; Peeters, D; Manicourt, D

2018-02-01

We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»). We describe the MCAS and its easy, fast and very effective medication management, without any significant side effects as well as its frequent association with the hEDS. We finally introduce the original term of «MASED» to this MCAS, associated, linked or entangled to hEDS.

Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-Hypermobile type.

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Hakim, Alan; O'Callaghan, Chris; De Wandele, Inge; Stiles, Lauren; Pocinki, Alan; Rowe, Peter

2017-03-01

Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently seen in hEDS. There is growing understanding of how hEDS-related physical and physiological pathology contributes to the development of these conditions. Evaluation of cardiovascular symptoms in hEDS should include a careful history and clinical examination. Tests of cardiovascular function range from clinic room observation to tilt-table assessment to other laboratory investigations such as supine and standing catecholamine levels. Non-pharmacologic treatments include education, managing the environment to reduce exposure to triggers, improving cardiovascular fitness, and maintaining hydration. Although there are limited clinical trials, the response to drug treatments in hEDS is supported by evidence from case and cohort observational data, and short-term physiological studies. Pharmacologic therapy is indicated for patients with moderate-severe impairment of daily function and who have inadequate response or tolerance to conservative treatment. Treatment in hEDS often requires a focus on functional maintenance. Also, the negative impact of cardiovascular symptoms on physical and psycho-social well-being may generate a need for a more general evaluation and on-going management and support. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

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Byers, Peter H; Belmont, John; Black, James; De Backer, Julie; Frank, Michael; Jeunemaitre, Xavier; Johnson, Diana; Pepin, Melanie; Robert, Leema; Sanders, Lynn; Wheeldon, Nigel

2017-03-01

Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan for use when traveling, centralize management at centers of excellence (experience) when feasible, maintain blood pressure in the normal range and treat hypertension aggressively, surveillance of vascular tree by doppler ultrasound, CTA (low radiation alternatives) or MRA if feasible on an annual basis. These recommendations represent a consensus of an international group of specialists with a broad aggregate experience in the care of individuals with vascular EDS that will need to be assessed on a regular basis as new information develops. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: A review for the gastroenterologist.

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Beckers, A B; Keszthelyi, D; Fikree, A; Vork, L; Masclee, A; Farmer, A D; Aziz, Q

2017-08-01

Joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) is the most common hereditary non-inflammatory disorder of connective tissue, characterized by a wide range of symptoms, mainly joint hyperextensibility and musculoskeletal symptoms. A majority of patients also experiences gastrointestinal (GI) symptoms. Furthermore, JHS/EDS-HT has specifically been shown to be highly prevalent in patients with functional GI disorders, such as functional dyspepsia and irritable bowel syndrome. The aim of this review was to examine the nature of GI symptoms and their underlying pathophysiology in JHS/EDS-HT. In addition, we consider the clinical implications of the diagnosis and treatment of JHS/EDS-HT for practicing clinicians in gastroenterology. Observations summarized in this review may furthermore represent the first step toward the identification of a new pathophysiological basis for a substantial subgroup of patients with functional GI disorders. © 2017 John Wiley & Sons Ltd.

Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2.

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Maraj, Hemant; Mohajer, Michelle; Bhattacharjee, Deepannita

2011-12-01

We present the case of a 31-year-old woman with Ehler-Danlos syndrome (EDS) type 2. She had a previous caesarean section and went on to have an uncomplicated vaginal birth in her last pregnancy. To our knowledge, this is the first case of a successful vaginal birth after caesarean section in a patient with EDS. EDS is a multisystem disorder involving a genetic defect in collagen and connective-tissue synthesis and structure. It is a heterogeneous group of 11 different inherited disorders. Obstetric complications in these patients include miscarriages, stillbirths, premature rupture of the membranes, preterm labour, uterine prolapse, uterine rupture and severe postpartum haemorrhage. There has been much controversy over the appropriate mode of delivery. Abdominal deliveries are complicated by delayed wound healing and increased perioperative blood loss. Vaginal deliveries may be complicated by tissue friability causing extensive perineal tears, pelvic floor and bladder lesions. Our case highlights that in specific, controlled situations it is possible to have a vaginal delivery even after previous caesarean section in patients with EDS.

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

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Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina

2016-01-01

Objective: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Methods: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values. Results: Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type. Conclusions: SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS. PMID:27306637

Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin.

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Kiss, Norbert; Haluszka, Dóra; Lőrincz, Kende; Kuroli, Enikő; Hársing, Judit; Mayer, Balázs; Kárpáti, Sarolta; Fekete, György; Szipőcs, Róbert; Wikonkál, Norbert; Medvecz, Márta

2018-07-01

Ehlers-Danlos syndrome (EDS) is the name for a heterogenous group of rare genetic connective tissue disorders with an overall incidence of 1 in 5000. The histological characteristics of EDS have been previously described in detail in the late 1970s and early 1980s. Since that time, the classification of EDS has undergone significant changes, yet the description of the histological features of collagen morphology in different EDS subtypes has endured the test of time. Nonlinear microscopy techniques can be utilized for non-invasive in vivo label-free imaging of the skin. Among these techniques, two-photon absorption fluorescence (TPF) microscopy can visualize endogenous fluorophores, such as elastin, while the morphology of collagen fibers can be assessed by second-harmonic generation (SHG) microscopy. In our present work, we performed TPF and SHG microscopy imaging on ex vivo skin samples of one patient with classical EDS and two patients with vascular EDS and two healthy controls. We detected irregular, loosely dispersed collagen fibers in a non-parallel arrangement in the dermis of the EDS patients, while as expected, there was no noticeable impairment in the elastin content. Based on further studies on a larger number of patients, in vivo nonlinear microscopic imaging could be utilized for the assessment of the skin status of EDS patients in the future.

Successful treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV without arterial puncture: the transvenous triple-overlay embolization (TAILOREd) technique.

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Huynh, Thien J; Morton, Ryan P; Levitt, Michael R; Ghodke, Basavaraj V; Wink, Onno; Hallam, Danial K

2017-08-18

We report successful transvenous treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV using a novel triple-overlay embolization (TAILOREd) technique without the need for arterial puncture, which is known to be highly risky in this patient group. The TAILOREd technique allowed for successful treatment using preoperative MR angiography as a three-dimensional overlay roadmap combined with cone beam CT and live fluoroscopy, precluding the need for an arterial puncture. 2017 BMJ Publishing Group Ltd.

Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?

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Miglis, Mitchell G; Schultz, Brittany; Muppidi, Srikanth

2017-12-01

It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year. Patients with hEDS had twice as many outpatient visits (21 v. 10, p=0.012), were taking more prescription medications (8 vs. 5.5, p=0.030), and were more likely to see a pain physician (70% vs 25%, p=0.005). Autonomic testing demonstrated a slight reduction in heart rate variability and slightly lower blood pressures on tilt table testing in hEDS patients, however for most patients these variables remained within the range of normal. Orthostatic tachycardia on tilt table testing was greater in POTS controls (46bpm vs 39bpm, p=0.018). Abnormal QSweat responses were common in both groups (38% of POTS+hEDS and 36% of POTS controls). While autonomic testing results were not significantly different between groups, patients with POTS+hEDS took more medications and had greater markers of healthcare utilization, with chronic pain likely playing a prominent role. Copyright © 2017 Elsevier B.V. All rights reserved.

Resolution of Large Azygos Vein Aneurysm Following Stent-Graft Shunt Placement in a Patient with Ehlers-Danlos Syndrome Type IV

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D'Souza, Estelle S.; Williams, David M.; Deeb, G.M.; Cwikiel, Wojciech

2006-01-01

Ehlers-Danlos syndrome (EDS) type IV is a rare connective tissue disorder associated with thin-walled, friable arteries and veins predisposing patients to aneurysm formation, dissection, fistula formation, and vessel rupture. Azygos vein aneurysm is an extremely rare condition which has not been reported in association with EDS in the literature. We present a patient with EDS type IV and interrupted inferior vena cava (IVC) with azygos continuation who developed an azygos vein aneurysm. In order to decrease flow through the azygos vein and reduce the risk of aneurysm rupture, a stent-graft shunt was created from the right hepatic vein to the azygos vein via a transhepatic, retroperitoneal route. At 6 month follow-up the shunt was open and the azygos vein aneurysm had resolved

Complex Scapular Winging following Total Shoulder Arthroplasty in a Patient with Ehlers-Danlos Syndrome

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John G. Skedros

2015-01-01

Full Text Available This is a unique case of a female patient with features of classical and hypermobile types of Ehlers-Danlos syndrome (EDS who developed complex scapular winging from spinal accessory and long thoracic neuropathies. These neurological problems became manifest after an uncomplicated total shoulder arthroplasty (TSA. The patient had a complex postoperative course with extensive work-up in addition to revision shoulder surgery and manipulations to treat shoulder stiffness. It was eventually suspected that the periscapular nerve impairments occurred during physical therapy sessions after her TSA. This interpretation was further supported by genetic evidence that, in addition to EDS, the patient had an unrecognized genetic propensity for nerve palsies from stretch or pressure (“hereditary neuropathy with liability to pressure palsies” (HNPP. By two years after the TSA the neuropathies had only partially improved, leaving the patient with persistent scapular winging and shoulder weakness. With this case we alert surgeons and physical therapists that patients with EDS can have not only a complicated course after TSA, but rare concurrent conditions that can further increase the propensity of neurological injuries that result in compromised shoulder function.

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

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Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

2016-09-01

Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. © 2016 WILEY PERIODICALS, INC.

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

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D'hondt, Sanne; Van Damme, Tim; Malfait, Fransiska

2018-01-01

Purpose Within the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among “nonvascular” EDS subtypes, we performed a systematic review. Methods We queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications. Results A total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS. Conclusion Potentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management. PMID:28981071

Dispersal of radioisotope labelled solution following deep dermal injection in Ehlers-Danlos syndrome.

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Oliver, D W; Balan, K K; Burrows, N P; Hall, P N

2000-06-01

Ehlers-Danlos syndrome (EDS) is the commonest inherited disorder of connective tissue, affecting around 10 000 patients in the UK. Patients with EDS have reported that local anaesthetic is often ineffective. Patients with less severe skin laxity often have the most problems. We have postulated that this resistance to local anaesthetics is not due to the lax connective tissues as is often assumed. This study used radioactively labelled solution ((99m)Tc-pertechnetate) administered as a deep dermal injection in the forearm. The rate of dispersal of isotope was measured over 60 min and found to be identical between six patients with EDS and three controls. The effects of local anaesthetics are complex and depend on the individual chemical properties of the agent and a number of tissue factors. This study would suggest that the lack of effectiveness of local anaesthetic solutions is not due to rapid dispersal of solution. It is unlikely therefore that its lack of effect can be compensated for by simply increasing the amount used. The diagnosis of EDS should be considered in any patient who complains unexpectedly of pain during their procedure, particularly when the surgeon knows that an adequate volume of local anaesthetic has been used. Copyright 2000 The British Association of Plastic Surgeons.

Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review.

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Perez, Luis A; Al-Shammari, Khalaf F; Giannobile, William V; Wang, Hom-Lay

2002-05-01

Ehlers-Danlos syndrome (EDS) designates a heterogeneous group of connective tissue disorders characterized by skin elasticity, tissue fragility, and chronic joint pain. Dental findings have been reported with some types of EDS. This case report describes the periodontal findings in a patient with a previously undiagnosed EDS type VIII. Diagnostic aids utilized included microbial testing, histological examination, gingival crevicular fluid (GCF) analysis for the levels of C-telopeptide pyridinoline cross-links (ICTP), and genetic counseling. Periodontal treatment consisted of mechanical debridement and adjunctive antibiotic therapy. Genetic counseling and clinical presentation confirmed the diagnosis of EDS type VIII. Periodontal treatment led to marked clinical improvements and GCF levels of the bone resorptive marker ICTP were significantly reduced. The patient and her siblings are currently pursuing appropriate medical care and genetic counseling. Periodontal involvement may lead to the diagnosis of an underlying systemic condition. Identification of suspected etiological factors of periodontal disease may prove critical for the general well-being of some patients.

Successful surgical treatment of intramural aortoatrial fistula, severe aortic regurgitation, mitral prolapse, and tricuspid insufficiency in a patient with Ehlers-Danlos syndrome type IV.

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Jiang, Shengli; Gao, Changqing; Ren, Chonglei; Zhang, Tao

2012-06-01

Patients with Ehlers-Danlos syndrome (EDS) type IV, an inherited connective tissue disorder, are predisposed to vascular and digestive ruptures, and arterial ruptures account for the majority of deaths. A 31-year-old man with EDS presented with an intramural aortoatrial fistula, severe aortic regurgitation, mitral valve prolapse, and severe tricuspid valve insufficiency combined with a severely dilated left ventricle. Determining the best surgical option for the patient was not easy, especially regarding the course of action for the aortic root with a tear in the sinus of Valsalva. The fistula tract was closed at the aorta with suture and with a patch in the right atrium, the mitral valve was repaired with edge-to-edge suture and then annuloplasty with a Cosgrove ring, the aortic valve was replaced with a mechanical prosthesis, and a modified De Vega technique was used for the tricuspid valvuloplasty. The postoperative course was uncomplicated, and the patient was discharged 2 weeks later. The considerations made to arrive at the chosen surgical course of action in this complex case are reviewed.

Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association.

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Mitra, Arijit; Ramakrishnan, R; Kader, Mohideen Abdul

2014-08-01

A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA) of hand movement (HM) in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD) in right eye. Intraocular pressure (IOP) was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA) in right eye and cup disc ratio (CDR) of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS) with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.

Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: A rarely reported association

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Arijit Mitra

2014-01-01

Full Text Available A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA of hand movement (HM in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD in right eye. Intraocular pressure (IOP was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA in right eye and cup disc ratio (CDR of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.

Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome: a descriptive study.

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Arthur, Karen; Caldwell, Karen; Forehand, Samantha; Davis, Keith

2016-01-01

The purpose of this study was to assess the pain control methods in use by patients who have Ehlers-Danlos Syndrome (EDS), a group of connective tissue disorders, and their perceived effectiveness. This descriptive study involved 1179 adults diagnosed with EDS who completed an anonymous on-line survey. The survey consisted of demographics information, the Patient Reported Outcomes Measurement Information System (PROMIS) Pain-Behavior, PROMIS Pain-Interference, and Neuro QOL Satisfaction with Social Roles and Activities scales, as well as a modified version of the Pain Management Strategies Survey. Respondents reported having to seek out confirmation of their EDS diagnosis with multiple healthcare providers, which implies the difficulty many people with EDS face when trying to gain access to appropriate treatment. Patients with EDS experience higher levels of pain interference and lower satisfaction with social roles and activities compared to national norms. Among the treatment modalities in this study, those perceived as most helpful for acute pain control were opioids, surgical interventions, splints and braces, avoidance of potentially dangerous activities and heat therapy. Chronic pain treatments rated as most helpful were opioids, splints or braces and surgical interventions. For methods used for both acute and chronic pain, those perceived as most helpful were opioids, massage therapies, splints or braces, heat therapy and avoiding potentially dangerous activities. EDS is a complex, multi-systemic condition that can be difficult to diagnose and poses challenges for healthcare practitioners who engage with EDS patients in holistic care. Improved healthcare provider knowledge of EDS is needed, and additional research on the co-occurring diagnoses with EDS may assist in comprehensive pain management for EDS patients. Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders associated with defective production of collagen, which can dramatically

Assessment of bone in Ehlers Danlos syndrome by ultrasound and densitometry.

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Dolan, A L; Arden, N K; Grahame, R; Spector, T D

1998-10-01

Ehlers Danlos syndrome (EDS) is an inherited disorder of connective tissue characterised by hyperextensible skin, joint laxity, and easy bruising. There are phenotypic similarities with osteogenesis imperfecta, but in EDS a tendency to fracture or altered bone mass has not previously been considered to be a cardinal feature. This case-control design study investigates whether 23 patients with EDS had differences in fracture rates, bone mass, and calcaneal ultrasound parameters compared with age and sex matched controls. 23 cases of EDS (mean (SD) age 38.5 (15.5)) were compared with 23 controls (mean age 37.8 (14.5)). A significant reduction in bone density measured by dual energy x ray absorptiometry was found at the neck of femur by 0.9 SD, p = 0.05, and lumbar spine by 0.74 SD, p = 0.02. At the calcaneum, broad band ultrasound attenuation and speed of sound were significantly reduced compared with controls by 0.95 SD (p = 0.004) and 0.49 SD (p = 0.004) for broad band ultrasound attenuation and speed of sound respectively. Broad band ultrasound attenuation and speed of sound remained significantly reduced after adjusting for bone mineral density (BMD). After adjusting for functional status (HAQ), age and sex, hypermobility was inversely correlated with broad band ultrasound attenuation and SOS, but not BMD at hip or spine. Previous fracture was 10 times more common in EDS (p exercise. This is one of the first clinical studies to suggest ultrasound can detect structural differences in bone, independent of dual energy x ray absorptiometry.

[Temporomandibular disorders and Ehlers-Danlos syndrome, hypermobility type: A case-control study].

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Diep, D; Fau, V; Wdowik, S; Bienvenu, B; Bénateau, H; Veyssière, A

2016-09-01

The Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is a rare genetic disease. Diagnosis is based on a combination of clinical criteria described in the classification of Villefranche. Diagnosis is difficult to make because of the lack of specific clinical signs and the absence of genetic testing. The EDS-TH manifests itself manly by musculoskeletal pain and joint hypermobility. Temporomandibular disorders (TMD) are also reported. Our aim was to objectify the presence and to qualify the type of TMD associated with the EDS-HT in order to propose an additional diagnostic argument. A prospective, monocenter case-control study, comparing a cohort of patients suffering from EDS-HT to a paired control group of healthy volunteers has been conducted. Clinical examination was standardized, including a general questioning, an oral examination and a temporomandibular joint examination following the TMD/RDC (temporomandibular disorders/research diagnostic criteria). Fourteen EDS-HT patients and 58 control patients were examined. The prevalence of TMDs (n=13; 92.9% vs. n=4; 6.9%; P=10(-11)) was significantly higher in the EDS-HT group. TMDs occurring in the EDS-HT group were complex, combining several mechanisms in contrast to the control group, where only one mechanism was found in all the patients (n=13; 92.9% vs. n=0; 0.0%). TMDs are strongly associated with RDS-HT. TMDs could therefore be used in the diagnosis of this disease. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections.

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Tewari, Saipriya; Madabushi, Rajashree; Agarwal, Anil; Gautam, Sujeet K; Khuba, Sandeep

2017-01-01

Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Physical examination of the back revealed two myofascial trigger points over the left rhomboids and the left erector spinae. Local anaesthetic trigger point injections were given at these points, followed by stretching exercises under analgesic cover for the first week. After 1 week the patient reported 60-80% pain relief. This case highlights that we must keep a high index of suspicion for the more treatable causes of pain like myofascial pain syndrome in patients suffering from EDS, and should address it promptly and appropriately in order to maximise patient comfort. Copyright © 2016 Elsevier Ltd. All rights reserved.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

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Colombi, M; Dordoni, C; Venturini, M; Ciaccio, C; Morlino, S; Chiarelli, N; Zanca, A; Calzavara-Pinton, P; Zoppi, N; Castori, M; Ritelli, M

2017-12-01

Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers–Danlos syndrome

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Remvig, Lars; Flycht, Lise; Christensen, Karl Bang

2014-01-01

The objectives of this study were to register clinicians performance and opinion of importance of clinical tests for generalized joint hypermobility (GJH), Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS), and to reach a consensus among clinicians...

Treatment of a direct carotid-cavernous fistula in a patient with type IV Ehlers-Danlos syndrome: a novel approach

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Hollands, J.K.; Santarius, T.; Kirkpatrick, P.J. [Addenbrooke' s Hospital, Department of Neurosurgery, Cambridge (United Kingdom); Higgins, J.N. [Addenbrooke' s Hospital, Department of Neuroradiology, Cambridge (United Kingdom)

2006-07-15

We report a case of a 34-year-old female with type IV Ehlers-Danlos syndrome diagnosed with a carotid cavernous fistula presenting with progressive proptosis. Endovascular embolization using balloons or coils carries a high risk of complications in this group of patients, owing to the extreme fragility of the blood vessels. Initial treatment was conservative until an intracerebral haemorrhage occurred. To avoid transfemoral angiography, the ipsilateral carotid arteries and the internal jugular vein were surgically exposed for insertion of two endovascular sheaths. The patient was transferred from theatre to the angiography suite and the sheaths were used for embolization access. The fistula was closed, with preservation of the carotid artery, using Guglielmi detachable coils deployed in the cavernous sinus from the arterial and venous sides. Rapid resolution of symptoms and signs followed, which was sustained at 6-month follow-up. This technique offers alternative access for endovascular treatment, which may reduce the high incidence of mortality associated with catheter angiography in this condition. (orig.)

Treatment of a direct carotid-cavernous fistula in a patient with type IV Ehlers-Danlos syndrome: a novel approach

International Nuclear Information System (INIS)

Hollands, J.K.; Santarius, T.; Kirkpatrick, P.J.; Higgins, J.N.

2006-01-01

We report a case of a 34-year-old female with type IV Ehlers-Danlos syndrome diagnosed with a carotid cavernous fistula presenting with progressive proptosis. Endovascular embolization using balloons or coils carries a high risk of complications in this group of patients, owing to the extreme fragility of the blood vessels. Initial treatment was conservative until an intracerebral haemorrhage occurred. To avoid transfemoral angiography, the ipsilateral carotid arteries and the internal jugular vein were surgically exposed for insertion of two endovascular sheaths. The patient was transferred from theatre to the angiography suite and the sheaths were used for embolization access. The fistula was closed, with preservation of the carotid artery, using Guglielmi detachable coils deployed in the cavernous sinus from the arterial and venous sides. Rapid resolution of symptoms and signs followed, which was sustained at 6-month follow-up. This technique offers alternative access for endovascular treatment, which may reduce the high incidence of mortality associated with catheter angiography in this condition. (orig.)

Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome:a clinical dilemma--case report and literature review.

LENUS (Irish Health Repository)

Sultan, Sherif

2002-01-01

The most prevalent lesion of the vertebral artery is an atheromatous plaque located at its origin from the subclavian artery. A case of successful management of a symptomatic vertebral artery aneurysm due to Ehlers-Danlos syndrome is reported. The patient had asymptomatic posterior intracerebral artery dissection on the contralateral side. A common carotid artery to V-3 segment bypass using reversed saphenous vein graft was carried out. Avulsion of the V-2 segment occurred peroperatively and endovascular coil embolization of the vertebral artery aneurysm was performed. Endovascular equipment and training must be in the armamentarium of vascular surgeons as more complex cases are being treated, which demands new approaches for ultimate clinical success. This unique case outlines what might unexpectedly occur. Endovascular intervention as an adjuvant procedure provides a satisfactory outcome in what could have been a catastrophe.

Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.

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El Masri, H; Loong, T-H; Meurette, G; Podevin, J; Zinzindohoue, F; Lehur, P-A

2018-05-01

Spontaneous gastrointestinal (GI) perforation is a well-known complication occurring in patients suffering from Type IV vascular Ehlers-Danlos syndrome (EDS IV). The aim of the present study was to review the current literature on spontaneous GI perforation in EDS IV and illustrate the surgical management and outcome when possible. A systematic review of all the published data on EDS IV patients with spontaneous GI perforation between January 2000 and December 2015 was conducted using three major databases PUBMED, EMBASE, and Cochrane Central Register of Controlled Trails. References of the selected articles were screened to avoid missing main articles. Twenty-seven published case reports and four retrospective studies, including 31 and 527 cases, respectively, matched the search criteria. A case from our institution was added. Mean age was 26 years (range 6-64 years). The most frequent site of perforation was the colon, particularly the sigmoid, followed by small bowel, upper rectum, and finally stomach. The majority of cases were initially managed with Hartmann's procedure. In recurrent perforations, total colectomy was performed. The reperforation rate was considerably higher in the "partial colectomy with anastomosis" group than in the Hartmann group. Colonic perforation is the most common spontaneous GI perforation in EDS IV patients. An unexpected fragility of the tissues should raise the possibility of a connective tissue disorder and prompt further investigation with eventual management of these high-risk patients with a multidisciplinary team approach in dedicated centres. In the emergency setting, a Hartmann procedure should be performed.

Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

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Ferré, François Côme; Frank, Michael; Gogly, Bruno; Golmard, Lisa; Naveau, Adrien; Chérifi, Hafida; Emmerich, Joseph; Gaultier, Frédérick; Berdal, Ariane; Jeunemaitre, Xavier; Fournier, Benjamin P J

2012-01-01

Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the COL3A1 gene, responsible of vascular, digestive and uterine accidents. Difficulty of clinical diagnosis has led to the design of diagnostic criteria, summarised in the Villefranche classification. The goal was to assess oral features of vEDS. Gingival recession is the only oral sign recognised as a minor diagnostic criterion. The authors aimed to check this assumption since bibliographical search related to gingival recession in vEDS proved scarce. Prospective case-control study. Dental surgery department in a French tertiary hospital. 17 consecutive patients with genetically proven vEDS, aged 19-55 years, were compared with 46 age- and sex-matched controls. Complete oral examination (clinical and radiological) with standardised assessment of periodontal structure, temporomandibular joint function and dental characteristics were performed. COL3A1 mutations were identified by direct sequencing of genomic or complementary DNA. Prevalence of gingival recession was low among patients with vEDS, as for periodontitis. Conversely, patients showed marked gingival fragility, temporomandibular disorders, dentin formation defects, molar root fusion and increased root length. After logistic regression, three variables remained significantly associated to vEDS. These variables were integrated in a diagnostic oral score with 87.5% and 97% sensitivity and specificity, respectively. Gingival recession is an inappropriate diagnostic criterion for vEDS. Several new specific oral signs of the disease were identified, whose combination may be of greater value in diagnosing vEDS.

Postural analysis in time and frequency domains in patients with Ehlers-Danlos syndrome.

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Galli, Manuela; Rigoldi, Chiara; Celletti, Claudia; Mainardi, Luca; Tenore, Nunzio; Albertini, Giorgio; Camerota, Filippo

2011-01-01

The goal of this work is to analyze postural control in Ehlers-Danlos syndrome (EDS) participants in time and frequency domain. This study considered a pathological group composed by 22 EDS participants performing a postural test consisting in maintaining standing position over a force platform for 30s in two conditions: open eyes (OE) and closed eyes (CE). In order to compare pathological group we acquired in the same conditions a control group composed by 20 healthy participants. The obtained center of pressure (COP) signal was analyzed in time and frequency domain using an AR model. Results revealed differences between pathological and control group: EDS participants pointed out difficulties in controlling COP displacements trying to keep it inside the BOS in AP direction and for this reason increased the use of ML mechanism in order to avoid the risk of fall. Also in CE conditions they demonstrated more difficulties in maintaining posture revealing the proprioceptive system is impaired, due to ligament laxity that characterized EDS participants. Frequency domain analysis showed no differences between the two groups, affirming that the changes in time domain reflected really the impairment to the postural control mechanism and not a different strategy assumed by EDS participants. These data could help in decision-making process to establish a correct rehabilitation approach, based on the reinforcing of muscle tone to supply the ligament laxity in order to prevent risks of falls and its consequences. Copyright © 2010 Elsevier Ltd. All rights reserved.

Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.

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Hommel, Alyson L; Jewett, Tamison; Mortenson, Megan; Caress, James B

2016-10-01

Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized. We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. Subsequent diagnostic testing confirmed a diagnosis of JMADUE, and sequencing of the filamin-A gene showed a novel, pathogenic mutation that confirmed an additional diagnosis of X-linked periventricular heterotopias with features of Ehlers-Danlos syndrome (XLPH-EDS). The concurrent diagnosis of these 2 rare conditions suggests a pathogenic connection. It is likely that the joint hypermobility from XLPH-EDS predisposed this patient to developing JMADUE. This supports the cervical hyperflexion theory of pathogenesis. This case also expands the phenotype associated with FLNA mutations. Muscle Nerve 54: 794-797, 2016. © 2016 Wiley Periodicals, Inc.

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

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Castori, Marco

2012-01-01

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists. PMID:23227356

Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

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Sawhney M

2003-03-01

Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

Directory of Open Access Journals (Sweden)

Sawhney M

2003-01-01

Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study.

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Voermans, N C; Knoop, H; Bleijenberg, G; van Engelen, B G

2011-06-01

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this study was to investigate the relationship between fatigue severity and subjective and objective measures of muscle weakness. Furthermore, the predictive value of muscle weakness for fatigue severity was determined, together with that of pain and physical activity. An explorative, cross-sectional, observational study. Thirty EDS patients, recruited from the Dutch patient association, were investigated at the neuromuscular outpatient department of a tertiary referral centre in The Netherlands. Muscle strength measured with manual muscle strength testing and hand-held dynamometry. Self-reported muscle weakness, pain, physical activity levels and fatigue were assessed with standardised questionnaires. Fatigue severity in EDS was significantly correlated with measured and self-reported muscle weakness (r=-0.408 for manual muscle strength, r=0.461 for hand-held dynamometry and r=0.603 for self-reported muscle weakness). Both muscle weakness and pain severity were significant predictors of fatigue severity in a multiple regression analysis. The results suggest a positive and direct relationship between fatigue severity and muscle weakness in EDS. Future research should focus on the relationship between fatigue, muscle weakness and objectively measured physical activity, preferably in a larger cohort of EDS patients. Copyright © 2010 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

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Rombaut, Lies; Deane, Janet; Simmonds, Jane; De Wandele, Inge; De Paepe, Anne; Malfait, Fransiska; Calders, Patrick

2015-03-01

Physiotherapy plays a fundamental role in managing adults with the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). However, it is a challenge for both the patient and the physiotherapist as the condition is poorly understood and treatment for JHS/EDS-HT is currently undefined. Insight into current practice is, therefore, necessary in order to establish baseline knowledge in this area and in the long term to improve the standard of patient care. Therefore, the purpose of this study was to evaluate current physiotherapists' knowledge of JHS/EDS-HT and to gain insight into current physiotherapy practice with emphasis on assessment, management, and treatment efficacy. Three hundred twenty-five Flemish physiotherapists participated in the study by filling out electronically a modified version of the "Hypermobility and Hypermobility Syndrome Questionnaire" (HHQ), which covered theoretical constructs such as general knowledge, assessment, management, and learning in relation to generalized joint hypermobility and JHS/EDS-HT. The results show that physiotherapists report a low level of confidence with regard to assessment and management of JHS/EDS-HT. Knowledge of hypermobility and JHS/EDS-HT is weak, especially regarding the features associated with JHS/EDS-HT. Many treatment approaches are used by physiotherapists with the majority showing preference for education, reassurance, muscle strengthening, proprioceptive and core stability training. Almost all approaches were perceived as being clinically effective by the physiotherapists, highlighting a lack of consensus. In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS-HT is under-recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed. © 2015 Wiley Periodicals, Inc.

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

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Baas, Annette F; Spiering, Wilko; Moll, Frans L; Page-Christiaens, Lieve; Beenakkers, Ingrid C M; Dooijes, Dennis; Vonken, Evert-Jan P A; van der Smagt, Jasper J; Knoers, Nine V; Koenen, Steven V; van Herwaarden, Joost A; Sieswerda, Gertjan Tj

2017-02-01

Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c.980G>A; p. Gly327Asp). She had had three uneventful vaginal deliveries. At the time of diagnosis, her 33-year-old niece was 25 weeks pregnant. She had had one uneventful vaginal delivery. Targeted DNA-analysis revealed that she was carrier of the COL3A1 mutation. Ultrasound detected an aneurysm in the abdominal aorta with likely a dissection. An uneventful elective cesarean section was performed at a gestational age of 37 weeks. The 40-year-old sister of our proband had had one uneventful vaginal delivery and an active pregnancy wish. Cascade DNA-screening showed her to carry the COL3A1 mutation. Computed Tomography Angiography (CTA) of her aorta revealed a type B dissection with the most proximal entry tear just below the superior mesenteric artery. Pregnancy was therefore discouraged. This familial case illustrates the complexity and challenges of reproductive decision-making in a potentially lethal condition as vEDS, and highlights the importance of a multidisciplinary approach. Moreover, it suggests that previous pregnancy-related risks of vEDS may be overestimated. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

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Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina

2016-08-01

FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, FKBP14, encodes a member of the F506-binding family of peptidyl-prolyl cis-trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel FKBP14 mutation, and compare his phenotype with those available in literature. This evaluation confirms that kyphoscoliosis (either progressive or non-progressive), myopathy, joint hypermobility, and congenital hearing loss (sensorineural, conductive, or mixed) are the typical features of the syndrome. Since the patient showed a severe cardiovascular event in childhood and atlantoaxial instability, this report expands the phenotype of the disorder and the allelic repertoire of FKBP14. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Alterations in collagen structure in hypermobility and Ehlers-Danlos syndromes detected by Raman spectroscopy in vivo

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Johansson, Carina K.; Gniadecka, Monika; Ullman, Susanne; Halberg, Poul; Kobayasi, Takasi; Wulf, Hans Christian

2000-11-01

Patients with hypermobility syndrome (HS) and Ehlers-Danlos syndrome (EDS) were investigated by means of in vivo near- infrared Fourier-transform Raman spectroscopy. HS is a benign and common condition (up to 5 percent of the population of the Western World). EDS is a rare, inherited connective tissue disease characterized by joint hypermobility, skin hyperextensibility, and other, occasionally serious, organ changes. EDS and HS may be related disorders. We investigated 13 patients with HS, 8 patients with EDS, and 24 healthy volunteers by means of in vivo Raman spectroscopy. The patients were classified according to Beighton and Holzberg et al. No difference in age between the three groups was found (HS 41 (33-49), EDS 36 (25-47), controls 37 (31-42); mean, 95% confidence intervals, respectively). Spectral differences were found in the intensity of the amide-III bands around 1245 and 1270 cm-1 in HS and EDS compared with healthy skin (Kruskal-Wallis, p equals 0,02 for intensity ratios (I1245/I1270) between the investigated groups). To elucidate the character of the alterations in the amide-III bands a curve fitting procedure was applied. In conclusion, Raman spectroscopy may aid in the diagnosis of HS and EDS. Moreover the technique may be useful for analyzing the molecular changes occurring in these syndromes.

Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

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Ghibellini, Giulia; Brancati, Francesco; Castori, Marco

2015-03-01

In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. © 2015 Wiley Periodicals, Inc.

The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

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Camerota, Filippo; Galli, Manuela; Cimolin, Veronica; Celletti, Claudia; Ancillao, Andrea; Blow, David; Albertini, Giorgio

2015-02-01

In this case study, biomechanical alterations induced by neuromuscular taping (NMT) were quantified, during walking, in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). A female JHS/EDS-HT patient underwent NMT applications over the low back spine and bilaterally to the knee. Quantitative gait analyses were collected before the NMT application and at the end of the treatment (2 weeks after the first application of NMT). At the end of treatment following the NMT application, left step length showed improvements in cadence and velocity, the left knee showed a reduction in its flexed position at initial contact, and the right ankle joint improved its position at initial contact and in the swing phase. Improvements were also found in kinetics, in terms of the ankle moment and power. Results show that NMT seems to be a promising low-cost intervention for improving gait strategy in patients with JHS/EDS-HT. Further investigations are needed to assess the effects of this treatment intervention on pathological symptoms.

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

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Jukkola, A; Kauppila, S; Risteli, L; Vuopala, K; Risteli, J; Leisti, J; Pajunen, L

1998-06-01

We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.

Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.

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Sung-Jin Jeong

Full Text Available It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS gene, is one of the major constituents of the pial basement membrane (BM and serves as the ligand for GPR56. Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe mental retardation and frequent seizures. To further characterize the brain phenotype of Col3a1 knockout mice, we performed a detailed histological analysis. We observed a cobblestone-like cortical malformation, with BM breakdown and marginal zone heterotopias in Col3a1⁻/⁻ mouse brains. Surprisingly, the pial BM appeared intact at early stages of development but starting as early as embryonic day (E 11.5, prominent BM defects were observed and accompanied by neuronal overmigration. Although collagen III is expressed in meningeal fibroblasts (MFs, Col3a1⁻/⁻ MFs present no obvious defects. Furthermore, the expression and posttranslational modification of α-dystroglycan was undisturbed in Col3a1⁻/⁻ mice. Based on the previous finding that mutations in COL3A1 cause type IV EDS, our study indicates a possible common pathological pathway linking connective tissue diseases and brain malformations.

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

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Kosho, Tomoki

2016-02-01

Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

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Weerakkody, Ruwan A; Vandrovcova, Jana; Kanonidou, Christina; Mueller, Michael; Gampawar, Piyush; Ibrahim, Yousef; Norsworthy, Penny; Biggs, Jennifer; Abdullah, Abdulshakur; Ross, David; Black, Holly A; Ferguson, David; Cheshire, Nicholas J; Kazkaz, Hanadi; Grahame, Rodney; Ghali, Neeti; Vandersteen, Anthony; Pope, F Michael; Aitman, Timothy J

2016-11-01

Ehlers-Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort. We developed and applied PCR-based NGS assays for targeted, unbiased sequencing of 12 collagen and aortopathy genes to a cohort of 177 unrelated EDS patients. Variants were scored blind to previous genetic testing and then compared with results of previous Sanger sequencing. Twenty-eight pathogenic variants in COL5A1/2, COL3A1, FBN1, and COL1A1 and four likely pathogenic variants in COL1A1, TGFBR1/2, and SMAD3 were identified by the NGS assays. These included all previously detected single-nucleotide and other short pathogenic variants in these genes, and seven newly detected pathogenic or likely pathogenic variants leading to clinically significant diagnostic revisions. Twenty-two variants of uncertain significance were identified, seven of which were in aortopathy genes and required clinical follow-up. Unbiased NGS-based sequencing made new molecular diagnoses outside the expected EDS genotype-phenotype relationship and identified previously undetected clinically actionable variants in aortopathy susceptibility genes. These data may be of value in guiding future clinical pathways for genetic diagnosis in EDS.Genet Med 18 11, 1119-1127.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

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Demirdas, S; Dulfer, E; Robert, L; Kempers, M; van Beek, D; Micha, D; van Engelen, B G; Hamel, B; Schalkwijk, J; Loeys, B; Maugeri, A; Voermans, N C

2017-03-01

The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Included were 17 patients of 11 families with autosomal recessive inheritance and childhood onset. All patients had hyperextensible skin without atrophic scarring. Hypermobility of the joints was observed in 16 of 17 patients. Deformities of the hands and feet were observed frequently. TNX serum level was tested and absent in 11 patients (seven families). Genetic testing was performed in all families; 12 different mutations were detected, most of which are suspected to lead to non-sense mRNA mediated decay. In short, patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent. Molecular analysis of TNXB in a diagnostic setting is challenging. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).

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Loughlin, J; Irven, C; Hardwick, L J; Butcher, S; Walsh, S; Wordsworth, P; Sykes, B

1995-09-01

Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gene has been linked to EDS II, nor has linkage been established to a specific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of 8.3 at theta = 0.00 was generated for a single large pedigree.

Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables.

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Baeza-Velasco, Carolina; Bourdon, Caroline; Montalescot, Lucile; de Cazotte, Cécile; Pailhez, Guillem; Bulbena, Antonio; Hamonet, Claude

2018-05-01

Despite the frequent co-ocurrence of hypermobile Ehler-Danlos syndrome (hEDS) and pathological anxiety, little is known about the psychosocial and health implications of such comorbidity. Our aim was to explore the association between high levels of anxiety and psychosocial (catastrophizing, kinesiophobia, somatosensory amplification, social support and functioning), health (pain, fatigue, BMI, tobacco/alcohol use, depression, diagnosis delay, general health), and sociodemographic factors in people with hEDS. In this cross-sectional study, 80 hEDS patients were divided into two groups according to self-reported anxiety levels: low and high. Psychosocial, sociodemographic and health variables were compared between the groups. Forty-one participants reported a high level of anxiety (51.2%). No differences were found in the sociodemographic variables between high-anxious and low-anxious patients. The percentage of participants with severe fatigue and high depressive symptomatology was significantly higher in the high-anxious group (80.5 vs 56.4; 26.8 vs 12.8%, respectively). High-anxious hEDS patients also showed significantly higher levels of pain catastrophizing, somatosensory amplification as well as a poorer social functioning and general health. Multivariate analyses showed that somatosensory amplification, pain catastrophizing and poor social functioning are variables that increase the probability of belonging to the high-anxious group. Despite limitations, this first study comparing high-anxious versus low-anxious hEDS patients with respect to health aspects, highlight the importance of considering the psychosocial factors (many susceptible to modification), to improve the adjustment to this chronic condition and provide support to those affected through a biopsychosocial approach.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

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De Wandele, Inge; Rombaut, Lies; De Backer, Tine; Peersman, Wim; Da Silva, Hellen; De Mits, Sophie; De Paepe, Anne; Calders, Patrick; Malfait, Fransiska

2016-08-01

To investigate whether orthostatic intolerance (OI) is a significant predictor for fatigue in Ehlers-Danlos Syndrome, hypermobility type (EDS-HT). Eighty patients with EDS-HT and 52 controls participated in the first part of the study, which consisted of questionnaires. Fatigue was evaluated using the Checklist Individual Strength (CIS). As possible fatigue determinants OI [Autonomic Symptom Profile (ASP)], habitual physical activity (Baecke), affective distress [Hospital Anxiety and Depression Scale (HADS)], pain (SF36), medication use and generalized hypermobility (5-point score of Grahame and Hakim regarding generalized joint hypermobility) were studied. Next, a 20 min head-up tilt (70°) was performed in a subsample of 39 patients and 35 controls, while beat-to-beat heart rate and blood pressure were monitored (Holter, Finometer Pro). Before and after tilt, fatigue severity was assessed using a numeric rating scale. Patients scored significantly higher on the CIS [total score: EDS: 98.2 (18.63) vs controls: 45.8 (16.62), P < 0.001] and on the OI domain of the ASP [EDS: 22.78 (7.16) vs controls: 6.5 (7.78)]. OI was prevalent in EDS-HT (EDS: 74.4%, controls: 34.3%, P = 0.001), and frequently expressed as postural orthostatic tachycardia (41.0% of the EDS group). Patients responded to tilt with a higher heart rate and lower total peripheral resistance (p < 0.001; p = 0.032). This altered response correlated with fatigue in daily life (CIS). In the EDS-HT group, tilt provoked significantly more fatigue [numeric rating scale increase: EDS: +3.1 (1.90), controls: +0.5 (1.24), P < 0.001]. Furthermore, the factors OI, pain, affective distress, decreased physical activity and sedative use explained 47.7% of the variance in fatigue severity. OI is an important determinant of fatigue in EDS-HT. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Endovascular repair of an iliac arteriovenous fistula secondary to perforation from a common iliac aneurysm in a patient with Ehler-Danlos syndrome.

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Sala Almonacil, Vicente Andrés; Zaragozá García, José Miguel; Gómez Palonés, Francisco Julián; Plaza Martínez, Ángel; Ortíz Monzón, Eduardo

2012-08-01

Type IV Ehler-Danlos syndrome (EDS) patients are prone to life-threatening vascular complications. Surgical management of those complications is challenging owing to vessel wall fragility, which may result in hemorrhagic events and high mortality rates. Here we report a case of left common iliac aneurysm perforation of the ipsilateral iliac vein repaired using endovascular technique in a patient with EDS. A 54-year-old patient presented with heart failure symptoms that evolved over 1 week in association with left leg edema and steal syndrome due to a perforation of the left iliac vein caused by a left common iliac aneurysm. A thrombosed right common iliac aneurysm and several other visceral and peripheral aneurysms were discovered on computed tomographic scan at admission. An aortouniiliac stent graft was used to seal the fistula. After 18 months of follow-up, the patient remained asymptomatic. We suggest that endovascular therapy is useful to manage vascular complications in patients with EDS. Copyright © 2012 Annals of Vascular Surgery Inc. Published by Elsevier Inc. All rights reserved.

Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.

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Park, Min A; Shin, So Youn; Kim, Young Jin; Park, Myung Jae; Lee, Seung Hyeun

2017-11-01

Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS. We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax. Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder. The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS. Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications. To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the importance of comprehensive physical examination and history-taking, and the clinical

Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series.

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Neice, Andrew E; Stubblefield, Eryn E; Woodworth, Glenn E; Aziz, Michael F

2016-09-01

Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy. Case series, chart review. Academic medical center. Patients with a confirmed or probable diagnosis of EDS who had received a peripheral nerve block in the last 3 years were identified by searching our institutions electronic medical record system. The patients were classified by their subtype of EDS. Patients with no diagnosed subtype were given a probable subtype based on a chart review of the patient's symptoms. Patient charts were reviewed for any evidence of complications or reduced block efficacy. A total of 21 regional anesthetics, on 16 unique patients were identified, 10 of which had a EDS subtype diagnosis. The majority of these patients had a diagnosis of hypermobility-type EDS. No block complications were noted in any patients. Two block failures requiring repeat block were noted, and four patients reported uncontrolled pain on postoperative day one despite successful placement of a peripheral nerve catheter. Additionally, blocks were performed without incident in patients with classical-type and vascular-type EDS although the number was so small that no conclusions can be drawn about relative safety of regional anesthesia in these groups. This series fails to show an increased risk of complications of peripheral nerve blockade in patients with hypermobility-type EDS. Copyright © 2016 Elsevier Inc. All rights reserved.

The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study.

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De Baets, Stijn; Vanhalst, Marieke; Coussens, Marieke; Rombaut, Lies; Malfait, Fransiska; Van Hove, Geert; Calders, Patrick; Vanderstraeten, Guy; van de Velde, Dominique

2017-01-01

The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. A phenomenological-hermeneutical study, using in-depth interviews. Patients were selected by a purposive sampling strategy. This study shows that the EDS-HT syndrome affects daily life. Ten woman between 31 and 65 years were interviewed. They have between 2 and 5 children. The data analysis results in six themes. (1) Getting a diagnosis is a relief and supports the choice to become a mother; (2) EDS-HT causes emotional distress, imposes a physical burden and has a major impact on social behavior; (3) EDS-HT demands a restructuring of everyday activities; (4) Children's and mothers' expectations do not correspond; (5) Having a supportive social and physical environment is of major importance; (6) The presence of the child reduces the feeling of illness of the mother. The diagnosis of EDS-HT is a catalysing factor in the choice of whether or not to become a mother. EDS-HT has a huge impact on bodily functions, which in turn influences activities and participation. This study gives insight in the activities of daily life of persons with EDS-HT. Health care professionals can be of great importance to help patients in (re)organizing their lives according to the available energy and in supporting their choices. They can help defining goals and setting priorities in daily life. Copyright © 2016 Elsevier Ltd. All rights reserved.

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

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Claudia Celletti

2017-01-01

Full Text Available Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT, is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group. Results. Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls. Conclusions. This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

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Celletti, Claudia; Camerota, Filippo; Castori, Marco; Censi, Federica; Gioffrè, Laura; Calcagnini, Giovanni; Strano, Stefano

2017-01-01

Background . Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods . The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group. Results . Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls. Conclusions. This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.

Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

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Di Stefano, G; Celletti, C; Baron, R; Castori, M; Di Franco, M; La Cesa, S; Leone, C; Pepe, A; Cruccu, G; Truini, A; Camerota, F

2016-09-01

Patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar mechanisms with neuropathic pain and fibromyalgia. In this prospective study seeking information on the mechanisms underlying pain in patients with JHS/EDS-HT, we enrolled 27 consecutive patients with this connective tissue disorder. Patients underwent a detailed clinical examination, including the neuropathic pain questionnaire DN4 and the fibromyalgia rapid screening tool. As quantitative sensory testing methods, we included thermal-pain perceptive thresholds and the wind-up ratio and recorded a standard nerve conduction study to assess non-nociceptive fibres and laser-evoked potentials, assessing nociceptive fibres. Clinical examination and diagnostic tests disclosed no somatosensory nervous system damage. Conversely, most patients suffered from widespread pain, the fibromyalgia rapid screening tool elicited positive findings, and quantitative sensory testing showed lowered cold and heat pain thresholds and an increased wind-up ratio. While the lack of somatosensory nervous system damage is incompatible with neuropathic pain as the mechanism underlying pain in JHS/EDS-HT, the lowered cold and heat pain thresholds and increased wind-up ratio imply that pain in JHS/EDS-HT might arise through central sensitization. Hence, this connective tissue disorder and fibromyalgia share similar pain mechanisms. WHAT DOES THIS STUDY ADD?: In patients with JHS/EDS-HT, the persistent nociceptive input due to joint abnormalities probably triggers central sensitization in the dorsal horn neurons and causes widespread pain. © 2016 European Pain Federation - EFIC®

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

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Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; Calzavara-Pinton, Piergiacomo; Grammatico, Paola; Colombi, Marina

2015-03-01

Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT. © 2015 Wiley Periodicals, Inc.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

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Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

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Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Ehlers-Danlos Syndrome.

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Kim, Sarasa T; Cloft, Harry; Flemming, Kelly D; Kallmes, David F; Lanzino, Giuseppe; Brinjikji, Waleed

2017-08-01

Small studies have suggested that Ehlers-Danlos syndrome (EDS) is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of EDS is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). Using the 2000-2012 NIS, we performed a case-control study matching cases of EDS to controls without such a diagnosis. The prevalence of various cerebrovascular diseases between the 2 groups was compared, and multivariate logistic regression was used to adjust for suspected comorbidities. Between 2000 and 2012, there were a total of 9067 discharges carrying a diagnosis of EDS. On univariate analysis, patients with EDS were more likely to be hospitalized for carotid dissection (.2% versus .01%, odds ratio [OR] = 18.0, confidence interval [CI] = 2.41-135.12, P < .0001), vertebral dissection (.1% versus 0%, P = .008), cervical artery aneurysm (.1% versus .01%, OR = 9.01, CI = 1.14-71.11, P < .0001), cerebral aneurysm (.4% versus .09%, OR = 4.89, CI = 2.28-10.47, P < .0001), and cerebrovascular malformation (.1% versus .02%, OR = 5, CI = 1.10-22.85, P = .021), compared to the controls. On multivariate analysis adjusted for age, race, and comorbidities, EDS patients had significantly higher odds of carotid dissection (OR = 15.02, CI = 3.08-270.87, P < .0001), vertebral dissection (OR = 2406539.5, P = .0037), cervical artery aneurysm (OR = 11.75, CI = 2.11-220.71, P = .0026), cerebral aneurysm (OR = 5.59, CI = 2.69-13.18, P < .0001), and cerebrovascular malformation (OR = 4.67, CI = 1.20-30.87, P = .0243). Carotid and vertebral dissections, cervical and cerebral aneurysms, as well as other cerebrovascular malformations are more common in hospitalized patients with EDS compared to controls

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

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Smith, L T; Wertelecki, W; Milstone, L M; Petty, E M; Seashore, M R; Braverman, I M; Jenkins, T G; Byers, P H

1992-08-01

Dermatosparaxis is a recessively inherited connective-tissue disorder that results from lack of the activity of type I procollagen N-proteinase, the enzyme that removes the amino-terminal propeptides from type I procollagen. Initially identified in cattle more than 20 years ago, the disorder was subsequently characterized in sheep, cats, and dogs. Affected animals have fragile skin, lax joints, and often die prematurely because of sepsis following avulsion of portions of skin. We recently identified two children with soft, lax, and fragile skin, which, when examined by transmission electron microscopy, contained the twisted, ribbon-like collagen fibrils characteristic of dermatosparaxis. Skin extracts from one child contained collagen precursors with amino-terminal extensions. Cultured fibroblasts from both children failed to cleave the amino-terminal propeptides from the pro alpha 1(I) and pro alpha 2(I) chains in type I procollagen molecules. Extracts of normal cells cleaved to collagen, the type I procollagen synthesized by cells from both children, demonstrating that the enzyme, not the substrate, was defective. These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.

Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

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Claudia Celletti

2013-01-01

Full Text Available Ehlers-Danlos syndrome hypermobility type a. k. a. joint hypermobility syndrome (JHS/EDS-HT is a hereditary musculoskeletal disorder associating generalized joint hypermobility with chronic pain. Anecdotal reports suggest a prominent role for kinesiophobia in disease manifestations, but no study has systematically addressed this point. Objective. To investigate the impact of kinesiophobia and its relationship with pain, fatigue, and quality of life in JHS/EDS-HT. Design. Cross-sectional study. Subjects/Patients. 42 patients (40 female and 2 male with JHS/EDS-HT diagnosis following standardized diagnostic criteria were selected. Methods. Disease features were analyzed by means of specific questionnaires and scales evaluating kinesiophobia, pain, fatigue, and quality of life. The relationships among variables were investigated using the Spearman bivariate analysis. Results. Kinesiophobia resulted predominantly in the patients’ sample. The values of kinesiophobia did not correlate with intensity of pain, quality of life, and (or the single component of fatigue. A strong correlation was discovered between kinesiophobia and general severity of fatigue. Conclusions. In JHS/EDS-HT, the onset of pain-avoiding strategies is related to the presence of pain but not to its intensity. The clear-cut correlation between kinesiophobia and severity of fatigue suggests a direct link between musculoskeletal pain and fatigue. In JHS/EDS-HT, the underlying mechanism is likely to be facilitated by primary disease characteristics, including hypotonia.

Ehlers-Danlos Syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

International Nuclear Information System (INIS)

Superti-Furga, A.; Gugler, E.; Gitzelmann, R.; Steinmann, B.

1988-01-01

The authors have studied a patient with severe, dominantly inherited Ehlers-Danlos syndrome type IV. The results indicate that this patient carries a deletion of 3.3 kilobase pairs in the triple helical coding domain of one of the two alleles for the pro-α-chains of type III collagen (COL3A1). His cultured skin fibroblasts contain equal amounts of normal length mRNA and of mRNA shortened by approximately 600 bases, and synthesize both normal and shortened pro-α1(III)-chains. In procollagen molecules containing one or more shortened chains, a triple helix is formed with a length of only about 780 amino acids. The mutant procollagen molecules have decreased thermal stability, are less efficiently secreted, and are not processed as their normal counterpart. The deletion in this family is the first mutation to be described in COL3A1

Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics.

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Domany, Keren Armoni; Hantragool, Sumalee; Smith, David F; Xu, Yuanfang; Hossain, Monir; Simakajornboon, Narong

2018-04-15

The nature of sleep disorders in children with Ehlers-Danlos syndrome (EDS) is unknown. We aimed to describe the type, the management, and the short-term outcome of sleep disorders in children with EDS referred to sleep clinics. This is a retrospective review of medical records and polysomnography tests of children with EDS younger than 18 years who were referred to the sleep clinic. Demographic information and medical history were collected, and polysomnography tests were reviewed. Questionnaires completed during previous clinic visits, including the Pediatrics Sleep Questionnaire (PSQ), Epworth Sleepiness Scale (ESS), and Pediatric Quality of Life Inventory (PedsQL), were also evaluated. Sixty-five patients with EDS-hypermobility type were included. The mean age was 13.15 ± 3.9 years. There were 68% of patients who were female, and 91% of patients were Caucasian. The mean follow-up period was 1.14 ± 1.55 years. Common sleep diagnoses included insomnia (n = 14, 22%), obstructive sleep apnea (OSA) (n = 17, 26%), periodic limb movement disorder (PLMD) (n = 11, 17%), and hypersomnia (n = 10, 15%). In addition, 65% required pharmacologic treatment and 29% were referred to behavioral sleep medicine. For OSA, two patients required continuous positive airway pressure. A significant improvement was observed in the PSQ, ESS, and PedsQL scores during follow-up visits after treatment (n = 34; P = .0004, 0.03, and 0.01, respectively). There is a high prevalence of sleep disorders, including OSA, insomnia, PLMD, and hypersomnia in children with EDS referred to sleep clinics. Specific management can improve quality of life and questionnaire scores of this patient population. Our study emphasizes the importance of screening for sleep disorders in children with EDS. © 2018 American Academy of Sleep Medicine.

Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome.

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Kulas Søborg, Marie-Louise; Leganger, Julie; Quitzau Mortensen, Laura; Rosenberg, Jacob; Burcharth, Jakob

2017-05-01

The aim of this study was to investigate national prevalence, general demographic characteristics and survival of Danish patients with Ehlers-Danlos syndrome (EDS). A population-based cohort study was conducted using a database consisting of the entire Danish population alive at any given time between 1 January 2000 and 31 December 2012, based upon longitudinal Danish national registers. All patients with EDS were identified, and the cohort was described by disease prevalence, basic demographic characteristics, mean age at death and mortality for the observational period of 13 years. The cohort held 1427 unique persons with EDS, giving a national prevalence of 0.02%. The EDS population had a mean ( s . d .) age of 34.9 (18.6) years and comprised 73.9% females and 26.1% males. Of the cohort, 95.9% originated from Denmark and 57% were unmarried. We found that 31.6% of the cohort received state-granted subsidies, of which 77% were in the form of early retirement pension. Regarding educational status, 28.1% of the EDS cohort had completed primary education (⩽10th grade) as their highest educational level, while 71.9% had completed a higher level. During the observation period, 42 patients died, with a mean ( s . d .) age at death of 53.6 (21.7) years. This study confirmed a small national prevalence of patients diagnosed with EDS and showed that the majority of patients diagnosed are female. The EDS cohort had a lower educational level, mean age and life expectancy compared with the background population and showed a predisposition for receiving state-granted subsidies. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.

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Ritter, Alyssa; Atzinger, Carrie; Hays, Brandon; James, Jeanne; Shikany, Amy; Neilson, Derek; Martin, Lisa; Weaver, Kathryn Nicole

2017-06-01

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. A cohort of 325 patients with HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 patients from a previous study. Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiograms were documented. Aortic root z-scores were calculated using two established formulas based on age (Boston or Devereux). Overall prevalence of AoD and prevalence by age were calculated and longitudinal regression was performed. The prevalence of AoD with a z-score ≥ 2.0 was 14.2% (46/325) and with a z-score of ≥3.0 was 5.5% (18/325). No significant increases in z-score were seen over time for patients with multiple echocardiograms. Participants under the age of 15 years had an average decline of 0.1 standard deviations (SDs)/year. No significant change was found after 15 of age. Between the ages of 15 and 21 years, Boston z-scores were 0.96 higher than Devereux z-scores. The nearly 1 z-score unit difference between formulas indicates caution prior to diagnosing AoD in patients with hEDS. In light of the low prevalence and lack of progression of AoD, routine echocardiograms may not be warranted for pediatric patients with hEDS. © 2017 Wiley Periodicals, Inc.

Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort study.

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Leganger, Julie; Søborg, Marie-Louise Kulas; Mortensen, Laura Quitzau; Gregersen, Rasmus; Rosenberg, Jacob; Burcharth, Jakob

2016-12-01

The aim of this study was to examine occurrence and consequences of diverticular disease in patients with Ehlers-Danlos syndrome (EDS) compared with a matched cohort. This nationwide population-based cohort study was conducted using data from medical registers in Denmark from year 2000 to 2012. The EDS cohort was identified using the specific diagnosis code for EDS and was randomly matched in a ratio of 1:20 by sex and date of birth (±1 year) with persons from the Danish general population. The occurrence of diverticular disease and the clinical characteristics of the initial diverticular event were compared between the EDS cohort and the comparison cohort. The first admission with diverticulitis was identified, and severity of diverticulitis, treatment, colonoscopies, length of stay, and 30-day mortality were investigated. We identified 1336 patients with EDS and matched a control cohort of 26,720 patients. The occurrence of diverticular disease in the EDS cohort (2.0 %) and the comparison cohort (0.68 %) differed significantly (p < 0.001). At the first diverticular event, the majority of patients were women (85 % for EDS and 87 % for the comparison cohort). Mean age, localization, and type of contact did not differ significantly. Admission with diverticulitis (1.0 % for EDS and 0.34 % for the comparison cohort) differed significantly (p < 0.001). We found no significant difference in severity of diverticulitis, treatment, length of stay, or 30-day mortality between the EDS and the comparison cohorts. Patients with EDS had an increased occurrence of overall diverticular events and admissions with diverticulitis compared with the general population.

The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

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Knight, Isobel

2015-03-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a hereditary connective tissue disorder affecting every bodily system. It is largely underdiagnosed by many practitioners, with the result of a considerable delay in diagnosis and, consequently, in the onset of adequate management schedule and treatment. Patients may also experience to be misbelieved, erroneously considered affected by a psychiatric or psychosomatic disorders, and rejected by the medical profession, which can lead to feelings of anger and resentment. Patient journeys are often long and complicated, but if doctors allowed the patient time to tell the full story, and were more prepared to think holistically, there may be a far more positive outcome. Here, the patients' perspective is presented with a narrative medicine approach, illustrating the tri-dimensional experience of a JHS/EDS-HT patient, who is also a Bowen Practitioner and a medical writer/educator. Narrative medicine would be invaluable in working with JHS/EDS-HT so that the patient can tell the story, and offer the practitioner a whole picture of her/his suffering and, often, the key for understanding the cause(s). Once this has been achieved, it might be possible to build upon a more positive and therapeutic dialogue which would result in better treatment and more effective management. It is also important for doctors to communicate with JHS/EDS-HT experts who will ultimately improve the patient journey and treatment outcomes of such a complex connective tissue disorder. © 2015 Wiley Periodicals, Inc.

Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report.

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Strunk, Richard G

2017-06-01

The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain. A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility. As a result of her significant history and examination findings, which met the Brighton and Villefranche criteria, she was diagnosed with EDS-HT. Treatment primarily consisted of low force joint manipulative therapy and soft tissue therapy intermittently over 21 months concurrently with conventional and complementary medical care. Multiple outcome questionnaires were administered pragmatically at follow-up intervals of 3, 5½, 8½, 19, and 21 months, including but not limited to the Headache and Neck Disability Indices and the Oswestry Low Back Questionnaire. The patient had clinically meaningful improvements on the Neck Disability Index, the Headache Disability Index, and the Revised Oswestry after 3, 5½, 8½, and 21 months from baseline. This patient with EDS-HT had clinically meaningful decreases in disability, headache, and spine pain after a course of multimodal chiropractic care combined with conventional and complementary medical care.

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

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Ieda, Daisuke; Hori, Ikumi; Nakamura, Yuji; Ohshita, Hironori; Negishi, Yutaka; Shinohara, Tsutomu; Hattori, Ayako; Kato, Takenori; Inukai, Sachiko; Kitamura, Katsumasa; Kawai, Tomoki; Ohara, Osamu; Kunishima, Shinji; Saitoh, Shinji

2018-06-01

Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an attempt to establish a clearer correlation between clinical symptoms and genotype, we have investigated a phenotype that involves thrombocytopenia in a patient with a truncation of the FLNA gene. We present the case of a 4-year-old girl who, at birth, showed a ventral hernia. At 2 months of age, she was diagnosed with patent ductus arteriosus (PDA) and aortic valve regurgitation. At 11 months, she underwent ligation of the PDA. She was also diagnosed with diaphragmatic eventration by a preoperative test. At 19 months, motor developmental delay was noted, and brain MRI revealed bilateral PVNH with mega cisterna magna. Presently, there is no evidence of epilepsy, intellectual disability or motor developmental delay. She has chronic, mild thrombocytopenia, and a platelet count that transiently decreases after viral infection. Dilation of the ascending aorta is progressing gradually. Genetic testing revealed a de novo nonsense heterozygous mutation in FLNA (NM_001456.3: c.1621G > T; p.Glu541Ter). Immunofluorescence staining of a peripheral blood smear showed a lack of filamin A expression in 21.1% of her platelets. These filamin A-negative platelets were slightly larger than her normal platelets. Our data suggests immunofluorescence staining of peripheral blood smears is a convenient diagnostic approach to identify patients with a FLNA mutation, which will facilitate further investigation of the correlation between FLNA mutations and patient phenotype. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome.

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Laszkowska, Monika; Roy, Abhik; Lebwohl, Benjamin; Green, Peter H R; Sundelin, Heléne E K; Ludvigsson, Jonas F

2016-09-01

Patients with celiac disease (CD) often have articular complaints, and small prior studies suggest an association with Ehlers-Danlos syndrome (EDS)/joint hypermobility syndrome (JHS). This study examines the risks of EDS/JHS in patients with CD. This cohort study compared all individuals in Sweden diagnosed with CD based on small intestinal biopsy between 1969-2008 (n=28,631) to 139,832 matched reference individuals, and to a second reference group undergoing biopsy without having CD (n=16,104). Rates of EDS/JHS were determined based on diagnostic codes in the Swedish Patient Register. Hazard ratios (HRs) for EDS/JHS were estimated through Cox regression. There are 45 and 148 cases of EDS/JHS in patients with CD and reference individuals, respectively. This corresponds to a 49% increased risk of EDS/JHS in CD (95%CI=1.07-2.07). The HR for EDS was 2.43 (95%CI=1.20-4.91) and for JHS 1.34 (95%CI=0.93-1.95). Compared to reference individuals undergoing intestinal biopsy, CD was not a risk factor for EDS/JHS. A stronger association was seen in patients initially diagnosed with EDS/JHS and subsequently diagnosed with CD (odds ratio=2.29; 95%CI=1.21-4.34). Individuals with CD have higher risk of EDS/JHS than the general population, which may be due to surveillance bias or factors intrinsic to celiac development. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

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Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco

2017-01-01

Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers-Danlos syndrome (EDS) with periventricular heterotopias" has been used in females with neurological, cardiovascular, integument and joint manifestations, but this nosology is still a matter of debate. We report the clinical and molecular update of an Italian family with an X-linked recessive soft connective tissue disorder and which was described, in 1975, as the first example of EDS type V of the Berlin nosology. The cutaneous phenotype of the index patient was close to classical EDS and all males died for a lethal cardiac valvular dystrophy. Whole exome sequencing identified the novel c.1829-1G>C splice variation in FLNA in two affected cousins. The nucleotide change was predicted to abolish the canonical splice acceptor site of exon 13 and to activate a cryptic acceptor site 15 bp downstream, leading to in frame deletion of five amino acid residues (p.Phe611_Gly615del). The predicted in frame deletion clusters with all the mutations previously identified in XCVD and falls within the N-terminus rod 1 domain of filamin A. Our findings expand the male-specific phenotype of FLNA mutations that now includes classical-like EDS with lethal cardiac valvular dystrophy, and offer further insights for the genotype-phenotype correlations within this spectrum. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Preterm labor and premature birth: Are you at risk?

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... and premature birth, including: Connective tissue disorders, like Ehlers-Danlos syndromes (also called EDS) and vascular Ehlers-Danlos syndrome (also called vEDS). Connective tissue is tissue that ...

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

Directory of Open Access Journals (Sweden)

Delfien Syx

2015-01-01

Full Text Available Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a familial trait and is shared by several heritable connective tissue disorders, including the hypermobility subtype of the Ehlers-Danlos syndrome (EDS-HT or benign joint hypermobility syndrome (BJHS. These hereditary conditions provide unique models for the study of the genetic basis of joint hypermobility. Nevertheless, these studies are largely hampered by the great variability in clinical presentation and the often vague mode of inheritance in many families. Here, we performed a genome-wide linkage scan in a unique three-generation family with an autosomal dominant EDS-HT phenotype and identified a linkage interval on chromosome 8p22-8p21.1, with a maximum two-point LOD score of 4.73. Subsequent whole exome sequencing revealed the presence of a unique missense variant in the LZTS1 gene, located within the candidate region. Subsequent analysis of 230 EDS-HT/BJHS patients resulted in the identification of three additional rare variants. This is the first reported genome-wide linkage analysis in an EDS-HT family, thereby providing an opportunity to identify a new disease gene for this condition.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

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Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco; Venturini, Marina; Castori, Marco; Colombi, Marina

2016-01-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci. In order to help in deciphering such a complex molecular background, we carried out a comprehensive immunofluorescence analysis and gene expression profiling in cultured skin fibroblasts from five women affected with JHS/EDS-HT. Protein study revealed disarray of several matrix structural components such as fibrillins, tenascins, elastin, collagens, fibronectin, and their integrin receptors. Transcriptome analysis indicated perturbation of different signaling cascades that are required for homeostatic regulation either during development or in adult tissues as well as altered expression of several genes involved in maintenance of extracellular matrix architecture and homeostasis (e.g., SPON2, TGM2, MMP16, GPC4, SULF1), cell-cell adhesion (e.g., CDH2, CHD10, PCDH9, CLDN11, FLG, DSP), immune/inflammatory/pain responses (e.g., CFD, AQP9, COLEC12, KCNQ5, PRLR), and essential for redox balance (e.g., ADH1C, AKR1C2, AKR1C3, MAOB, GSTM5). Our findings provide a picture of the gene expression profile and dysregulated pathways in JHS/EDS-HT skin fibroblasts that correlate well with the systemic phenotype of the patients.

Hyperelastic skin

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... is most often seen in people who have Ehlers-Danlos syndrome. People with this disorder have very elastic skin. ... any member of your family been diagnosed with Ehlers-Danlos syndrome? What other symptoms are present? Genetic counseling may ...

Skin turgor

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... are: Connective tissue disorders such as scleroderma and Ehlers-Danlos syndrome These connective tissue disorders do not have to ... ed. Elsevier Mosby; 2015:chap 8. Ferri FF. Ehlers-Danlos syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . ...

Putting a Face on Rare Diseases

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... who have a rare and potentially dangerous disease, Ehlers-Danlos syndrome. Photo Courtesy of: Patricia Weltin That has been ... daughters with a rare and potentially dangerous disease, Ehlers-Danlos syndrome (EDS), a connective tissue disorder causing joint dislocations, ...

Aortic dissection

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... Connective tissue disorders (such as Marfan syndrome and Ehlers-Danlos syndrome) and rare genetic disorders Heart surgery or procedures ... If you have been diagnosed with Marfan or Ehlers-Danlos syndrome, making sure you regularly follow-up with your ...

Thoracic aortic aneurysm

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... age Connective tissue disorders such as Marfan or Ehlers-Danlos syndrome Inflammation of the aorta Injury from falls or ... of connective tissue disorders (such as Marfan or Ehlers-Danlos syndrome) Chest or back discomfort Prevention To prevent atherosclerosis: ...

Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome.

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Bovet, Claire; Carlson, Matthew; Taylor, Matthew

2016-08-01

Ehlers-Danlos Syndrome, hypermobility type (EDS-HT) and the joint hypermobility syndrome (JHS) are connective tissue disorders that form an overlapping clinical syndrome and are associated with frequent medical visits and substantial morbidity. EDS-HT/JHS-associated pain correlates with poor quality of life. While physical therapy is the recommended treatment for EDS-HT/JHS, little is known about therapy-related patient experiences and iatrogenic injuries. We studied 38 adult EDS-HT/JHS patients, eliciting health-related quality of life (HRQoL) from 28 patients through the RAND SF-36 questionnaire. We also explored physical therapy experiences through focus groups with 13 patients. Our patients displayed poor HRQoL, with 71% reporting worse health over the past year. SF-36 scores were significantly lower than the scores of the average American population (P < 0.001 for 8 of 10 categories assessed), but were comparable to EDS-HT/JHS populations in Belgium, the Netherlands, Sweden, and Italy. Focus groups identified factors associated with: negative past physical therapy experiences, iatrogenic joint injuries, positive treatment experiences, and unmet rehabilitation needs. This group of EDS-HT/JHS patients has significant decrements in HRQoL and many unmet treatment needs, as well as a risk for iatrogenic injuries. We identify several approaches to help meet patients' needs and improve joint rehabilitation in patients with EDS-HT/JHS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study.

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Hugon-Rodin, Justine; Lebègue, Géraldine; Becourt, Stéphanie; Hamonet, Claude; Gompel, Anne

2016-09-13

Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associated with chronic pain, skin fragility and abnormal bleeding. These characteristics may hamper reproductive life. We conducted a study to evaluate the gynecologic and obstetric outcomes in women with hEDS. We also explored a possible hormonal modulation of the hEDS symptoms. The gynecologic and obstetric history of 386 consecutive women diagnosed with hEDS was collected by a standardized questionnaire and a medical consultation performed by a senior gynecologist in an expert centre for hEDS between May 2012 and December 2014. We observed a high frequency of gynecologic complaints, specifically: menorrhagia (76 %), dysmenorrhea (72 %) and dyspareunia (43 %). Endometriosis was not highly prevalent in this population. The obstetric outcomes were similar to those of the general French population for deliveries by cesarean section (14.6 %) and premature births (6.2 %) but the incidence of multiple spontaneous abortion (13 %) and spontaneous abortion (28 %) were significantly higher. A subset of women were sensitive to hormonal fluctuations with more severe symptoms occurring during puberty, prior to menstruation, during the postpartum period as well as on oral contraception. Increased awareness of the gynecological symptomatology in women with hEDS can help discriminate between endometriosis and thus prevent useless, and potentially dangerous, surgery. This study also suggests that hormonal modulation may be an appropriate treatment for a subset of women with hEDS.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

KAUST Repository

Blackburn, Patrick R.; Xu, Zhi; Tumelty, Kathleen E.; Zhao, Rose W.; Monis, William J.; Harris, Kimberly G.; Gass, Jennifer M.; Cousin, Margot A.; Boczek, Nicole J.; Mitkov, Mario V.; Cappel, Mark A.; Francomano, Clair A.; Parisi, Joseph E.; Klee, Eric W.; Faqeih, Eissa; Alkuraya, Fowzan S.; Layne, Matthew D.; McDonnell, Nazli B.; Atwal, Paldeep S.

2018-01-01

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1 mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. In this study, we describe four individuals from three unrelated families that presented with a unique constellation of clinical findings including joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features reminiscent of Ehlers-Danlos syndrome (EDS). Analysis of skin biopsies revealed decreased dermal collagen with abnormal collagen fibrils that were ragged in appearance. Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family. We show that ACLP enhances collagen polymerization and binds to several fibrillar collagens via its discoidin domain. These studies support the conclusion that biallelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

KAUST Repository

Blackburn, Patrick R.

2018-03-29

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1 mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. In this study, we describe four individuals from three unrelated families that presented with a unique constellation of clinical findings including joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features reminiscent of Ehlers-Danlos syndrome (EDS). Analysis of skin biopsies revealed decreased dermal collagen with abnormal collagen fibrils that were ragged in appearance. Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family. We show that ACLP enhances collagen polymerization and binds to several fibrillar collagens via its discoidin domain. These studies support the conclusion that biallelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype.

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

Science.gov (United States)

Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Venturini, Marina; Celletti, Claudia; Camerota, Filippo; Colombi, Marina; Castori, Marco

2017-04-01

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non-parametric tools. Multiple correspondence analysis was carried out for possible co-segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft-tissue injuries. No major difference was registered by sex and dominant versus non-dominant body side. At multiple correspondence analysis, selected features tend to co-segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS/EDS-HT. Our findings corroborated the need for a re-thinking of JHS/EDS-HT on clinical grounds in order to find better therapeutic and research strategies. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study.

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Scheper, Mark C; Nicholson, Lesley L; Adams, Roger D; Tofts, Louise; Pacey, Verity

2017-12-01

The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints. Cluster analysis was performed to identify subgroups in severity. Clinical profiles were determined for these subgroups, and differences were assessed by multivariate analysis of covariance. Mixed linear regression models were used to determine the subsequent trajectories. Finally, an exploratory factor analysis was used to uncover the underlying constructs of functional impairment. Three clusters of children were identified in terms of functional impairment: mild, moderately and severely affected. Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P ⩽ 0.05) over 3 years. Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified. All four constructs (multi-systemic effects, pain, fatigue and loss of postural control) contributed significantly to disability (P ⩽ 0.046). Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic complaints (particularly, orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue at baseline are most likely to have a deteriorating trajectory of functional impairment and, accordingly, warrant clinical prioritization. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings.

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Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Almqvist, Catarina; Serlachius, Eva; Ludvigsson, Jonas F

2016-07-04

To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through Swedish national registries. Individuals with EDS (n = 1,771) were matched with comparison individuals (n = 17,710). Further, siblings to individuals with EDS who did not have an EDS diagnosis themselves were compared with matched comparison siblings. Using conditional logistic regression, risk of autism spectrum disorder (ASD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), depression, attempted suicide, suicide and schizophrenia were estimated. The same analyses were conducted in individuals with hypermobility syndrome (n = 10,019) and their siblings. EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2-10.7; bipolar disorder: RR 2.7, CI 1.5-4.7; ADHD: RR 5.6, CI 4.2-7.4; depression: RR 3.4, 95 % CI 2.9-4.1; and attempted suicide: RR 2.1, 95 % CI 1.7-2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4-3.3; depression: RR 1.5, 95 % CI 1.1-1.8; and suicide attempt: RR 1.8, 95 % CI 1.4-2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings. Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders.

Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis.

Science.gov (United States)

Scheper, M C; Pacey, V; Rombaut, L; Adams, R D; Tofts, L; Calders, P; Nicholson, L L; Engelbert, R H H

2017-03-01

Lowered pressure-pain thresholds have been demonstrated in adults with Ehlers-Danlos syndrome hypermobility type (EDS-HT), but whether these findings are also present in children is unclear. Therefore, the objectives of the study were to determine whether generalized hyperalgesia is present in children with hypermobility syndrome (HMS)/EDS-HT, explore potential differences in pressure-pain thresholds between children and adults with HMS/EDS-HT, and determine the discriminative value of generalized hyperalgesia. Patients were classified in 1 of 3 groups: HMS/EDS-HT, hypermobile (Beighton score ≥4 of 9), and healthy controls. Descriptive data of age, sex, body mass index, Beighton score, skin laxity, and medication usage were collected. Generalized hyperalgesia was quantified by the average pressure-pain thresholds collected from 12 locations. Confounders collected were pain locations/intensity, fatigue, and psychological distress. Comparisons between children with HMS/EDS-HT and normative values, between children and adults with HMS/EDS-HT, and corrected confounders were analyzed with multivariate analysis of covariance. The discriminative value of generalized hyperalgesia employed to differentiate between HMS/EDS-HT, hypermobility, and controls was quantified with logistic regression. Significantly lower pressure-pain thresholds were found in children with HMS/EDS-HT compared to normative values (range -22.0% to -59.0%; P ≤ 0.05). When applying a threshold of 30.8 N/cm 2 for males and 29.0 N/cm 2 for females, the presence of generalized hyperalgesia discriminated between individuals with HMS/EDS-HT, hypermobility, and healthy controls (odds ratio 6.0). Children and adults with HMS/EDS-HT are characterized by hypermobility, chronic pain, and generalized hyperalgesia. The presence of generalized hyperalgesia may indicate involvement of the central nervous system in the development of chronic pain. © 2016, American College of Rheumatology.

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.

Science.gov (United States)

Sinibaldi, Lorenzo; Ursini, Gianluca; Castori, Marco

2015-03-01

Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers-Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome - JHS/EDS-HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS-HT) and anxiety-related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi-systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS-HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive-compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind-body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS-HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS-HT in clinical practice. © 2015 Wiley Periodicals, Inc.

Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons.

Science.gov (United States)

Johnston, Jessica M; Connizzo, Brianne K; Shetye, Snehal S; Robinson, Kelsey A; Huegel, Julianne; Rodriguez, Ashley B; Sun, Mei; Adams, Sheila M; Birk, David E; Soslowsky, Louis J

2017-12-01

Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1 +/- mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1 +/- ) with wild-type controls. Tendons were subjected to mechanical testing, histological, and fibril analysis before injury as well as 3 and 6 weeks after injury. We found that Col5a1 +/- tendons demonstrated diminished recovery of mechanical competency after injury as compared to normal wild-type tendons, which recovered their pre-injury values by 6 weeks post injury. Additionally, the Col5a1 +/- tendons demonstrated altered fibril morphology and diameter distributions compared to the wild-type tendons. This study indicates that collagen V plays an important role in regulating collagen fibrillogenesis and the associated recovery of mechanical integrity in tendons after injury. In addition, the dysregulation with decreased collagen V expression in EDS is associated with a diminished injury response. The results presented herein have the potential to direct future targeted therapeutics for classic EDS patients. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:2707-2715, 2017. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Science.gov (United States)

Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

2015-03-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Science.gov (United States)

Blackburn, Patrick R; Xu, Zhi; Tumelty, Kathleen E; Zhao, Rose W; Monis, William J; Harris, Kimberly G; Gass, Jennifer M; Cousin, Margot A; Boczek, Nicole J; Mitkov, Mario V; Cappel, Mark A; Francomano, Clair A; Parisi, Joseph E; Klee, Eric W; Faqeih, Eissa; Alkuraya, Fowzan S; Layne, Matthew D; McDonnell, Nazli B; Atwal, Paldeep S

2018-04-05

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1 -/- mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. In this study, we describe four individuals from three unrelated families that presented with a unique constellation of clinical findings including joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features reminiscent of Ehlers-Danlos syndrome (EDS). Analysis of skin biopsies revealed decreased dermal collagen with abnormal collagen fibrils that were ragged in appearance. Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581 ∗ ]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs ∗ 3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family. We show that ACLP enhances collagen polymerization and binds to several fibrillar collagens via its discoidin domain. These studies support the conclusion that bi-allelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype. Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

Science.gov (United States)

Mizumoto, Shuji; Kosho, Tomoki; Hatamochi, Atsushi; Honda, Tomoko; Yamaguchi, Tomomi; Okamoto, Nobuhiko; Miyake, Noriko; Yamada, Shuhei; Sugahara, Kazuyuki

2017-08-01

Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas). In an attempt to develop a diagnostic screening method for this type of EDS, the amount of DS in the urine of patients was analyzed. Urinary DS was quantified by an anion-exchange chromatography after treatment with DS-specific degrading enzyme. DS was not detected in the urine of patients with homo- or compound heterozygous mutations in CHST14. These results suggest that the quantification of DS in urine is applicable to an initial diagnosis of DS-defective EDS. This is the first study to perform a urinary disaccharide compositional analysis of chondroitin sulfate (CS)/DS chains in patients with EDS caused by a CHST14/D4ST1 deficiency, and demonstrated the absence of DS chains. This result suggests systemic DS depletion in this disorder, and also proposes the usefulness of a urinary disaccharide compositional analysis of CS/DS chains as a non-invasive screening method for this disorder. Copyright © 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Vertebral Column Resection for Kyphoscoliosis in a Patient with Ehlers-Danlos Syndrome: An Intraoperative Neurophysiological Monitoring Alert.

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Jahangiri, Faisal R; Al Eissa, Sami; Sayegh, Samir; Al Helal, Fahad; Al-Sharif, Shomoukh A; Annaim, Monerah M; Muhammad, Sheryar; Aziz, Tanweer

2016-08-31

A 16-year-old male patient with Ehler-Danlos syndrome (EDS) and a back deformity since birth presented with severe kyphoscoliosis. The patient was neurologically intact but had respiratory and cardiac insufficiencies. A two-stage vertebral column resection (VCR) at T9-T10 with multiple level fusion with multimodality intraoperative neurophysiological monitoring (IONM) was planned.  During the first stage, pedicle screws were placed at multiple spinal levels above and below the VCR level. Upper and lower somatosensory evoked potentials (SSEP), transcranial electrical motor evoked potentials (TCeMEP), and electromyography were monitored continuously and showed no significant changes. The second stage was performed one week later. Baseline SSEP and TCeMEP responses were present in all extremities. The surgeon was informed of a sudden 70% amplitude drop in TCeMEP in the lower limbs with stable SSEP after ligating one of the left nerves/vessels fully stretching the spinal cord. The surgeon removed the ligation, and an improvement in motor responses followed. Surgery proceeded with the highest levels of caution. Later, there was a sudden loss of TCeMEP and SSEP in the lower limbs bilaterally. The correction was released, mean arterial pressure was increased, and intravenous dexamethasone was administered. The surgical correction was aborted, and the decision was made to close the site. Lower SSEP and TCeMEP responses remained absent until closing, while upper SSEP and TCeMEP responses remained stable. A wake-up test was done after closing. The patient moved his upper limbs but was unable to move his lower limbs bilaterally. The patient was sent for a magnetic resonance imaging scan while intubated and then sent to the intensive care unit. At 24 hours and 36 hours post-operation, the patient had no sensory and motor function below the T8 level. Forty-eight hours post-operation, the patient started to feel sensory stimuli at the T10 level. At one week post-operation, the

A multimodal physical therapy approach utilizing the Maitland concept in the management of a patient with cervical and lumbar radiculitis and Ehlers-Danlos syndrome-hypermobility type: A case report.

Science.gov (United States)

Pennetti, Adelina

2018-07-01

The purpose of this case report is to present a multimodal approach for patient management using the Maitland concept framework for cervical and lumbar radiculitis with an underlying diagnosis of Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HT). This case presents care guided by evidence, patient values, and rationale for the selected course of physical therapy treatment provided by therapist experience. A 35-year-old female with a 2-year history of worsening lumbar and cervical pain was referred to physical therapy to address these musculoskeletal issues concurrent with diagnostic testing for EDS. A multimodal approach including manual therapy, therapeutic exercise, postural and body mechanics education, and a home exercise program was used. The patient specific functional scale (PSFS) was used to gauge patient's perceived improvements which were demonstrated by increased scores at reevaluation and at discharge. Following the Maitland concept framework, the physical therapist was able to make sound clinical decisions by tracking the logical flow of constant patient assessment. A 10-month course of treatment designed to maximize recovery of function was successful with a chronic history of pain and the EDS-HT diagnosis. The role of education and empowering the patient is shown to be of utmost importance. Optimizing therapeutic outcomes long-term for this patient population requires maintaining a home exercise program, adaptation and modifications of work and lifestyle activities.

Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin.

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Gouignard, Nadège; Maccarana, Marco; Strate, Ina; von Stedingk, Kristoffer; Malmström, Anders; Pera, Edgar M

2016-06-01

Of all live births with congenital anomalies, approximately one-third exhibit deformities of the head and face. Most craniofacial disorders are associated with defects in a migratory stem and progenitor cell population, which is designated the neural crest (NC). Musculocontractural Ehlers-Danlos syndrome (MCEDS) is a heritable connective tissue disorder with distinct craniofacial features; this syndrome comprises multiple congenital malformations that are caused by dysfunction of dermatan sulfate (DS) biosynthetic enzymes, including DS epimerase-1 (DS-epi1; also known as DSE). Studies in mice have extended our understanding of DS-epi1 in connective tissue maintenance; however, its role in fetal development is not understood. We demonstrate that DS-epi1 is important for the generation of isolated iduronic acid residues in chondroitin sulfate (CS)/DS proteoglycans in early Xenopus embryos. The knockdown of DS-epi1 does not affect the formation of early NC progenitors; however, it impairs the correct activation of transcription factors involved in the epithelial-mesenchymal transition (EMT) and reduces the extent of NC cell migration, which leads to a decrease in NC-derived craniofacial skeleton, melanocytes and dorsal fin structures. Transplantation experiments demonstrate a tissue-autonomous role for DS-epi1 in cranial NC cell migration in vivo Cranial NC explant and single-cell cultures indicate a requirement of DS-epi1 in cell adhesion, spreading and extension of polarized cell processes on fibronectin. Thus, our work indicates a functional link between DS and NC cell migration. We conclude that NC defects in the EMT and cell migration might account for the craniofacial anomalies and other congenital malformations in MCEDS, which might facilitate the diagnosis and development of therapies for this distressing condition. Moreover, the presented correlations between human DS-epi1 expression and gene sets of mesenchymal character, invasion and metastasis in

Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients.

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Jean-David Zeitoun

Full Text Available BACKGROUND AND OBJECTIVES: Ehlers-Danlos syndromes (EDS are a heterogeneous group of heritable connective tissue disorders. Gastrointestinal manifestations in EDS have been described but their frequency, nature and impact are poorly known. We aimed to assess digestive features in a national cohort of EDS patients. METHODS: A questionnaire has been sent to 212 EDS patients through the French patient support group, all of which had been formally diagnosed according to the Villefranche criteria. The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index, KESS scoring system and the Rome III criteria. RESULTS: Overall, 135 patients (64% response rate completed the questionnaire and 134 were analyzable (123 women; 91%. Mean age and Body Mass Index were respectively 35±14.7 years and 24.3±6.1 kg/m(2. The most common EDS subtype was hypermobility form (n=108; 80.6%. GIQLI and KESS median values were respectively 63.5 (27-117 and 19 [13.5-22]. Eighty four percent of patients had functional bowel disorders (FBD according to the Rome III criteria. An irritable bowel syndrome according to the same criteria was observed in 64 patients (48% and 48 patients (36% reported functional constipation. A gastro-esophageal reflux disease (GERD was reported in 90 patients (68.7%, significantly associated with a poorer GIQLI (60.5±16.8 versus 75.9±20.3; p<0.0001. GIQLI was also negatively impacted by the presence of an irritable bowel syndrome or functional constipation (p=0.007. There was a significant correlation between FBD and GERD. CONCLUSIONS: Natural frequency of gastrointestinal manifestations in EDS seems higher than previously assessed. FBD and GERD are very common in our study population, the largest ever published until now. Their impact is herein shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS.

Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study

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Emma G. Dupuy

2017-06-01

Full Text Available Elhers-Danlos syndrome (EDS is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability. Therefore, the purpose of this study was twofold: (i to assess the impact of somatosensory deficit on subjective visual vertical (SVV and postural stability; and (ii to quantify the effect of wearing somatosensory orthoses (i.e., compressive garments and insoles on postural stability. Six hEDS patients and six age- and gender-matched controls underwent a SVV (sitting, standing, lying on the right side evaluation and a postural control evaluation on a force platform (Synapsys, with or without visual information (eyes open (EO/eyes closed (EC. These two latter conditions performed either without orthoses, or with compression garments (CG, or insoles, or both. Results showed that patients did not exhibit a substantial perceived tilt of the visual vertical in the direction of the body tilt (Aubert effect as did the control subjects. Interestingly, such differential effects were only apparent when the rod was initially positioned to the left of the vertical axis (opposite the longitudinal body axis. In addition, patients showed greater postural instability (sway area than the controls. The removal of vision exacerbated this instability, especially in the mediolateral (ML direction. The wearing of orthoses improved postural stability, especially in the eyes-closed condition, with a particularly

Especies de Malassezia aisladas de pacientes con lesiones dermatológicas

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Sandra Rincón

2005-06-01

Full Text Available Introducción. Las levaduras del género Malassezia forman parte de la flora normal de la piel y se asocian con varios tipos de lesiones dermatológicas. Desde 1996, la descripción de nuevas especies dentro de este género planteó numerosos interrogantes sobre su epidemiología y patogenicidad. Objetivo. El fin de este trabajo fue encontrar la frecuencia de las diferentes especies de Malassezia en individuos con pitiriasis versicolor, dermatitis atópica, dermatitis seborreica, dermatitis seborreica en pacientes positivos para VIH, y en individuos sin lesiones a partir de tres zonas corporales (cabeza, tórax, extremidades inferiores y superiores. Materiales y métodos. Se identificaron 154 aislamientos de especies de Malassezia de 112 individuos: 39 con dermatitis seborreica de los cuales 20 eran positivos para VIH, 18 con pitiriasis versicolor, 18 con dermatitis atópica y 37 individuos sin lesión dermatológica (controles. Las escamas de piel de los pacientes se observaron microscópicamente y las muestras de pacientes y controles se cultivaron en agar Dixon modificado. Posteriormente, se observaron las colonias y se identificaron según sus características macroscópicas, microscópicas y fisiológicas. Resultados. Las especies más frecuentemente aisladas en el total de los grupos estudiados fueron: Malassezia globosa (37,5%, M. sympodialis (31,3% y M. furfur (31,3%. M. globosa predominó en los aislamientos de pacientes con pitiriasis versicolor (67% y en pacientes positivos para VIH con dermatitis seborreica (85%. En pacientes con dermatitis atópica y dermatitis seborreica sin diagnóstico de VIH, se aislaron M. furfur y M. restricta en el 72% y el 26% de los casos, respectivamente. Conclusiones. Las diferentes especies de Malassezia pueden aislarse de pacientes con lesiones dermatológicas o sin ellas. Además, la frecuencia de especies en la población muestreada difiere de lo reportado en otras zonas geográficas. Se destaca la

FECUNDIDAD Y FERTILIDAD EN ONCE ESPECIES DE ANUROS COLOMBIANOS CON DIFERENTES MODOS REPRODUCTIVOS

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Guayara-Barragán Manuel Gilberto

2012-12-01

Full Text Available Los anuros son uno de los grupos de vertebrados más destacados por la diversidad desus estrategias reproductivas, que reflejan las presiones de selección sobre las variadascondiciones ambientales de sus hábitats. En este trabajo se reportan como parámetrosde estas estrategias reproductivas, la fecundidad (número de huevos por postura yla fertilidad (porcentaje de embriones por postura, en once especies de anuros conseis modos reproductivos, y se analizan en relación con el tamaño de las hembras,el tamaño de los huevos y con las características temporales o permanentes de suhábitat reproductivo. Se encontró que la fecundidad presentó una alta variación intrae inter-específica, ya que hubo especies con un solo huevo por postura (Dendrobatestruncatus hasta especies con 20 000 huevos por postura (Rhinella marina. Interespecíficamente,la fecundidad se relacionó positivamente con el tamaño corporal delas hembras, e inversamente con el tamaño de los huevos, el cual varió entre 0.98 mmy 4.54 mm y fue mayor para las especies con embriones de hábitat terrestres. Conrespecto de la fertilidad, el promedio fue mayor que el 74.93% para todas las especiesde estudio, sin diferencias estadísticamente significativas, aunque se registró un mayorporcentaje en las especies con posturas acuáticas. Este trabajo muestra como tendenciageneral que las especies con reproducción en cuerpos de agua temporales presentanun mayor número de huevos por postura, de menor tamaño y probablemente con unamayor fertilidad en comparación con las especies con una reproducción terrestre

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Science.gov (United States)

Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina

2018-01-01

Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures. To shed lights into molecular mechanisms underlying vEDS, we performed gene expression profiling in cultured skin fibroblasts from three patients with different structural COL3A1 mutations. Transcriptome analysis revealed significant changes in the expression levels of several genes involved in maintenance of cell redox and endoplasmic reticulum (ER) homeostasis, COLLs folding and extracellular matrix (ECM) organization, formation of the proteasome complex, and cell cycle regulation. Protein analyses showed that aberrant COLLIII expression is associated with the disassembly of many structural ECM constituents, such as fibrillins, EMILINs, and elastin, as well as with the reduction of the proteoglycans perlecan, decorin, and versican, all playing an important role in the vascular system. Furthermore, the altered distribution of the ER marker protein disulfide isomerase PDI and the strong reduction of the COLLs-modifying enzyme FKBP22 are consistent with the disturbance of ER-related homeostasis and COLLs biosynthesis and post-translational modifications, indicated by microarray analysis. Our findings add new insights into the pathophysiology of this severe vascular disorder, since they provide a picture of the gene expression changes in vEDS skin fibroblasts and highlight that dominant negative mutations in COL3A1 also affect post-translational modifications and deposition into the ECM of

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Directory of Open Access Journals (Sweden)

Nicola Chiarelli

Full Text Available Vascular Ehlers-Danlos syndrome (vEDS is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII, which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures. To shed lights into molecular mechanisms underlying vEDS, we performed gene expression profiling in cultured skin fibroblasts from three patients with different structural COL3A1 mutations. Transcriptome analysis revealed significant changes in the expression levels of several genes involved in maintenance of cell redox and endoplasmic reticulum (ER homeostasis, COLLs folding and extracellular matrix (ECM organization, formation of the proteasome complex, and cell cycle regulation. Protein analyses showed that aberrant COLLIII expression is associated with the disassembly of many structural ECM constituents, such as fibrillins, EMILINs, and elastin, as well as with the reduction of the proteoglycans perlecan, decorin, and versican, all playing an important role in the vascular system. Furthermore, the altered distribution of the ER marker protein disulfide isomerase PDI and the strong reduction of the COLLs-modifying enzyme FKBP22 are consistent with the disturbance of ER-related homeostasis and COLLs biosynthesis and post-translational modifications, indicated by microarray analysis. Our findings add new insights into the pathophysiology of this severe vascular disorder, since they provide a picture of the gene expression changes in vEDS skin fibroblasts and highlight that dominant negative mutations in COL3A1 also affect post-translational modifications and deposition

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception.

Science.gov (United States)

Scheper, Mark; Rombaut, Lies; de Vries, Janneke; De Wandele, Inge; van der Esch, Martin; Visser, Bart; Malfait, Franciska; Calders, Patrick; Engelbert, Raoul

2017-07-01

The patients diagnosed with Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT) are characterized by pain, proprioceptive inacuity, muscle weakness, potentially leading to activity limitations. In EDS-HT, a direct relationship between muscle strength, proprioception and activity limitations has never been studied. The objective of the study was to establish the association between muscle strength and activity limitations and the impact of proprioception on this association in EDS-HT patients. Twenty-four EDS-HT patients were compared with 24 controls. Activity limitations were quantified by Health Assessment Questionnaire (HAQ), Six-Minute Walk test (6MWT) and 30-s chair-rise test (30CRT). Muscle strength was quantified by handheld dynamometry. Proprioception was quantified by movement detection paradigm. In analyses, the association between muscle strength and activity limitations was controlled for proprioception and confounders. Muscle strength was associated with 30CRT (r = 0.67, p = <0.001), 6MWT (r = 0.58, p = <0.001) and HAQ (r = 0.63, p= <0.001). Proprioception was associated with 30CRT (r = 0.55, p < 0.001), 6MWT (r = 0.40, p = <0.05) and HAQ (r = 0.46, p < 0.05). Muscle strength was found to be associated with activity limitations, however, proprioceptive inacuity confounded this association. Muscle strength is associated with activity limitations in EDS-HT patients. Joint proprioception is of influence on this association and should be considered in the development of new treatment strategies for patients with EDS-HT. Implications for rehabilitation Reducing activity limitations by enhancing muscle strength is frequently applied in the treatment of EDS-HT patients. Although evidence regarding treatment efficacy is scarce, the current paper confirms the rationality that muscle strength is an important factor in the occurrence of activity limitations in EDS-HT patients. Although muscle strength is the most

Ehlers-Danlos' syndrom

DEFF Research Database (Denmark)

Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

2016-01-01

diagnostic criteria, and because physicians may lack knowledge of this rare disease. The aim of this article is to provide an overview of the clinical symptoms and to provide recommendations on diagnosis and treatment. Referring patients to one of the national centres for rare diseases is important....

Ehlers-Danlos syndrom

DEFF Research Database (Denmark)

Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

2016-01-01

, and because physicians may lack knowledge of this rare disease. The aim of this article is to provide an overview of the clinical symptoms and to provide recommendations on diagnosis and treatment. Referring patients to one of the national centres for rare diseases is important....

Ehlers-Danlos syndrome

Science.gov (United States)

... with EDS generally have a normal life span. Intelligence is normal. Those with the rare vascular type ... 2018, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM ...

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Science.gov (United States)

Zoppi, Nicoletta; Chiarelli, Nicola; Binetti, Silvia; Ritelli, Marco; Colombi, Marina

2018-04-01

Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications, and minor skin changes. The phenotypic spectrum is broad and includes multiple associated symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or features of hEDS; for these patients, the term Hypermobility Spectrum Disorders (HSD) was introduced. We previously reported that in vitro cultured hEDS and HSD patients' skin fibroblasts show a disarray of several extracellular matrix (ECM) components and dysregulated expression of genes involved in connective tissue homeostasis and inflammatory/pain/immune responses. Herein, we report that hEDS and HSD skin fibroblasts exhibit in vitro a similar myofibroblast-like phenotype characterized by the organization of α-smooth muscle actin cytoskeleton, expression of OB-cadherin/cadherin-11, enhanced migratory capability associated with augmented levels of the ECM-degrading metalloproteinase-9, and altered expression of the inflammation mediators CCN1/CYR61 and CCN2/CTGF. We demonstrate that in hEDS and HSD cells this fibroblast-to-myofibroblast transition is triggered by a signal transduction pathway that involves αvβ3 integrin-ILK complexes, organized in focal adhesions, and the Snail1/Slug transcription factor, thus providing insights into the molecular mechanisms related to the pathophysiology of these protean disorders. The indistinguishable phenotype identified in hEDS and HSD cells resembles an inflammatory-like condition, which correlates well with the systemic phenotype of patients, and suggests that these multisystemic disorders might be part of a phenotypic continuum rather than representing distinct clinical entities. Copyright © 2018 Elsevier B.V. All rights reserved.

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Science.gov (United States)

Walker, L C; Teebi, A S; Marini, J C; De Paepe, A; Malfait, F; Atsawasuwan, P; Yamauchi, M; Yeowell, H N

2004-12-01

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized by tissue fragility, hyperelasticity of the skin and joint hypermobility. This phenotype, accompanied by kyphoscoliosis and/or ocular fragility, is present in patients with the autosomal recessive type VI form of EDS. These patients have significantly decreased levels of lysyl hydroxylase (LH) activity, due to mutations in the LH1 gene. LH hydroxylates specific lysine residues in the collagen molecule that are precursors for the formation of cross-links which provide collagen with its tensile strength. No disorder has been directly linked to decreased expression of LH2 and LH3, two other isoforms of LH. This study describes 3 patients with mixed phenotypes of EDS, who have significantly decreased mRNAs for LH2, but normal levels of LH1 and LH3 mRNAs, in their skin fibroblasts. In contrast to the effect of LH1 deficiency in EDS VI patients, the decreased expression of LH2 does not affect LH activity, bifunctional collagen cross-links (measured after reduction as dihydroxylysinonorleucine (DHLNL) and hydroxylysinonorleucine (HLNL)), or helical lysine hydroxylation in these cell lines. Sequence analysis of full length LH2 cDNAs and 1kb of the promoter region of LH2 does not show mutations that could explain the decreased expression of LH2. These results suggest that the deficiency of LH2 in these fibroblasts may be caused by changes in other factors required for the expression of LH2.

Nueva especie del genero Buenoa Kirkaldy (Hemiptera, notonectidae con clave para especies y notas ecológicas

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Padilla Gil Dora N.

1992-06-01

Full Text Available Se incluyen las especies del género Buenoa encontradas en el Departamento de Cundinamarca con un rango altitudinal entre
los 1728 y 3000 m.s.n.m. y descipción de la especie Buenoa cucunubensis n. sp., además clave para determinar especies y algunos datos ecológicos.Four species of genus Buenoa are recorded from Cundinamarca province in Colombia, Buenos cucunubensis nov. spec. is
described. Also included are key to males, data on distribution and ecological information.

The neuromuscular differential diagnosis of joint hypermobility.

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Donkervoort, S; Bonnemann, C G; Loeys, B; Jungbluth, H; Voermans, N C

2015-03-01

Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders. © 2015 Wiley Periodicals, Inc.

Peroneal Arteriovenous Fistula and Pseudoaneurysm: An Unusual Presentation

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Kevin C. Ching

2014-01-01

Full Text Available Peroneal artery arteriovenous fistulas and pseudoaneurysms are extremely rare with the majority of reported cases due to penetrating, orthopedic, or iatrogenic trauma. Failure to diagnose this unusual vascular pathology may lead to massive hemorrhage or limb threatening ischemia. We report an interesting case of a 14-year-old male who presented with acute musculoskeletal pain of his lower extremity. Initial radiographs were negative. Further imaging workup revealed a peroneal arteriovenous fistula with a large pseudoaneurysm. After initial endovascular intervention was unsuccessful, the vessels were surgically ligated in the operating room. Pathology revealed papillary endothelial hyperplasia consistent with an aneurysm and later genetic testing was consistent with Ehlers-Danlos syndrome Type IV. This case illustrates an unusual cause of acute atraumatic musculoskeletal pain and uncommon presentation of Ehlers-Danlos syndrome.

[The genetics of collagen diseases].

Science.gov (United States)

Kaplan, J; Maroteaux, P; Frezal, J

1986-01-01

Heritable disorders of collagen include Ehler-Danlos syndromes (11 types are actually known), Larsen syndrome and osteogenesis imperfecta. Their clinical, genetic and biochemical features are reviewed. Marfan syndrome is closely related to heritable disorders of collagen.

The Ehlers-Danlos Syndrome

African Journals Online (AJOL)

1974-04-13

Apr 13, 1974 ... determined disorder of connective tissue. Affected indi- viduals have the unique ... tic events. The lacerations gaped widely, but did not bleed to any extent. Surgical closure was difficult since the sutures tended to tear out of the wound edges and healing was usually slow. During late childhood a blow on his ...

Compound heterozygous mutations of the TNXB gene cause primary myopathy

NARCIS (Netherlands)

Penisson-Besnier, I.; Allamand, V.; Beurrier, P.; Martin, L.; Schalkwijk, J.; Vlijmen-Willems, I. van; Gartioux, C.; Malfait, F.; Syx, D.; Macchi, L.; Marcorelles, P.; Arbeille, B.; Croue, A.; Paepe, A. de; Dubas, F.

2013-01-01

Complete deficiency of the extracellular matrix glycoprotein tenascin-X (TNX) leads to recessive forms of Ehlers-Danlos syndrome, clinically characterized by hyperextensible skin, easy bruising and joint hypermobility. Clinical and pathological studies, immunoassay, and molecular analyses were

Renal aneurysm and arteriovenous fistula; Management with transcatheter embolization

Energy Technology Data Exchange (ETDEWEB)

Savastano, S.; Feltrin, G.P.; Miotto, D.; Chiesura-Corona, M. (Padua Univ. (Italy). Ist. di Radiologia Padua Univ. (Italy). Ist. di Fisioterapia)

1990-01-01

Embolization was performed in six patients with renal artery aneurysms (n=2) and arteriovenous fistulas (AVF) (n=5). The aneurysms were observed in one patient with fibromuscular dysplasia and in another with Ehlers-Danlos syndrome. All the AVFs were intraparenchymal and secondary to iatrogenic trauma. Elective embolization was performed in five patients with good clinical results at follow-up between 1 and 9 years. Because of rupture of the aneurysm emergency embolization was attempted without success in the patient with Ehlers-Danlos syndrome, and nephrectomy was carried out. A postembolization syndrome complicated three procedures in which Gelfoam and polyvinyl alcohol were used; in two of these cases unexpected reflux of the particulate material occurred, resulting in limited undesired ablation of the ipsilateral renal parenchyma. Embolization is the most reliable and effective treatment for intrarenal vascular abnormalities since it minimizes the parenchymal damage. (orig.).

Renal aneurysm and arteriovenous fistula

International Nuclear Information System (INIS)

Savastano, S.; Feltrin, G.P.; Miotto, D.; Chiesura-Corona, M.; Padua Univ.

1990-01-01

Embolization was performed in six patients with renal artery aneurysms (n=2) and arteriovenous fistulas (AVF) (n=5). The aneurysms were observed in one patient with fibromuscular dysplasia and in another with Ehlers-Danlos syndrome. All the AVFs were intraparenchymal and secondary to iatrogenic trauma. Elective embolization was performed in five patients with good clinical results at follow-up between 1 and 9 years. Because of rupture of the aneurysm emergency embolization was attempted without success in the patient with Ehlers-Danlos syndrome, and nephrectomy was carried out. A postembolization syndrome complicated three procedures in which Gelfoam and polyvinyl alcohol were used; in two of these cases unexpected reflux of the particulate material occurred, resulting in limited undesired ablation of the ipsilateral renal parenchyma. Embolization is the most reliable and effective treatment for intrarenal vascular abnormalities since it minimizes the parenchymal damage. (orig.)

Hernier som medicinsk sygdom

DEFF Research Database (Denmark)

Burcharth, J.; Rosenberg, J.

2008-01-01

include patients with Ehlers-Danlos, Marfans syndrome, osteogenesis imperfecta, cutis laxa, and patients with abdominal aortic aneurysms, colonic diverticula or stress urinary incontinence. Looking ahead, the perspective may be individualization of the operative technique for patients with a hernia...

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Science.gov (United States)

Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; Calzavara-Pinton, Piergiacomo; Ritelli, Marco

2017-02-01

Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p.(Arg312Cys), which leads to disturbed collagen fibrillogenesis due to delayed removal of the type I procollagen N-propeptide. This specific mutation has been associated with propensity to arterial rupture in early adulthood; indeed, in literature the individuals harboring this mutation are also referred to as "(classic) vascular-like" EDS patients. Herein, we describe a three-generation cEDS family with six adults carrying the p.(Arg312Cys) substitution, which show a variable and prevalent cutaneous involvement without any major vascular event. These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. Nevertheless, for these patients, as well as for those affected with cEDS, a periodical vascular surveillance should be carried out together with cardiovascular risk factors monitoring. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Intraabdominal Hemorrhage Due to Spontaneous Rupture of Superior Mesenteric Artery

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Onder Ozden

2014-04-01

Ehlers Danlos Syndrome Type IV should be kept in mind in cases of abdominal apoplexy. Repair of vascular complications could be impossible due to abnormal type III collagen leaded vascular fragility. [Cukurova Med J 2014; 39(2.000: 408-411

Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

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Barnum R

2014-04-01

Full Text Available Richard BarnumPrivate practice, Child and adolescent psychiatry, MA, USAAbstract: Conversion Disorder (CD is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care.Keywords: somatoform disorders, dysautonomias, pain, collagen diseases, mitochondrial diseases, complex regional pain syndromes

Connective Tissue Disorders

Science.gov (United States)

... of connective tissue. Over 200 disorders that impact connective tissue. There are different types: Genetic disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta Autoimmune disorders, such as lupus and scleroderma Cancers, like some types of soft tissue sarcoma Each ...

Importance of recognizing Ehlers Danlos syndrome by dentists: a case report

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F. Jamali

1994-06-01

Full Text Available This syndrome is a genetical disorder with symptoms result from deficit in the formation of connective tissue, especially collagen fiber biosynthesis. In these patients, there is hyperelasticity and fragility of the skin and mucosa. Injuries sever bleeding, internal bleeding and hemartrosis may be seen in these patients. Wounds leave scars after healing. There is recurrent dislocation of the joints, especially knee and temporomandibular joints. Dentists should know the symptoms of this syndrome and its complications during dental treatments.

Application of Mesh Plug Technique in The Repair of Difficult Cases ...

African Journals Online (AJOL)

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cystic fibrosis patients and those with ventriculoperitoneal shunts or peritoneal dialysis catheters are at higher risk for recurrence. Patients with connective tissue disorders such as mucopolysaccharidoses and Ehlers-Danlos or Marfan syndrome are also at higher risk for recurrence. Patients with irreducible incarcerated ...

The neuromuscular differential diagnosis of joint hypermobility

NARCIS (Netherlands)

Donkervoort, S.; Bonnemann, C.G.; Loeys, B.L.; Jungbluth, H.; Voermans, N.C.

2015-01-01

Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a

Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect

Science.gov (United States)

Hossein-Nezhad, A.; Tabatabaei, F.

2017-01-01

ABSTRACT Objective: To increase the level of awareness that Ehlers-Danlos/hypermobility syndrome (EDS) and vitamin D deficiency are associated with infantile fragility fractures and radiologic features that may be mistakenly reported to be caused by non-accidental trauma due to Child Abuse and Neglect (CAN). Patients and Methods: We constructed a case series, the largest to date, of infants with EDS who were vitamin D sufficient, insufficient and deficient and infants without EDS but with documented vitamin D deficiency and radiologic evidence of rickets who presented with multiple fractures originally diagnosed as being non-accidental and caused by child abuse. These infants were referred to the outpatient Bone Health Care Clinic at Boston University Medical Campus over a 6-year (2010–2015) period. We also present 6 index cases in which the court concluded that there was no convincing evidence of child abuse and the infants were returned to their parents. Institutional Review Board (IRB) approval was obtained. Results: We present 72 cases of infants with multiple fractures diagnosed to be caused by non-accidental trauma. All infants were younger than one year of age. Among them, 93%(67) had clinical evidence of EDS and/or a family history with a confirmed clinical diagnosis of at least one parent having EDS and the other 7%(5) without evidence of EDS had vitamin D deficiency/infantile rickets. Three of the EDS infants were diagnosed as osteogenesis imperfecta (OI)/EDS overlap syndrome. The most common fractures noted at diagnosis were ribs and extremity fractures (including classic metaphyseal lesions). Serum levels of 25-hydroxyvitamin D [25(OH)D] were reported in 48 infants (18.0 ± 8.5 ng/ml) and in 30 mothers (21.3 ± 11.7 ng/ml). Sixty-three percent (27) of the EDS infants who had their serum 25(OH)D measured were vitamin D deficient 25(OH)D30 ng/ml. The mean serum level for infants with vitamin D deficiency/rickets was (10.2 ± 3.0 ng/ml) Conclusion: EDS

Lysyl oxidase activity is required for ordered collagen fibrillogenesis by tendon cells

DEFF Research Database (Denmark)

Herchenhan, Andreas; Uhlenbrock, Franziska Katharina; Eliasson, Pernilla

2015-01-01

to structurally abnormal collagen fibrils with irregular profiles and widely dispersed diameters. Of special interest, the abnormal fibril profiles resembled those seen in some Ehlers-Danlos Syndrome phenotypes. Importantly, the total collagen content developed normally, and there was no difference in COL1A1 gene...

Disease: H00802 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available (EDS7A/7B); EDS dermatospraxis type (EDS7C); EDS autosomal recessive cardiac valvular form (EDSCV); EDS musculocontract...have been identified with molecular and biochemical abnormalities: cardiac valvular form, musculocontractura...moto N ... TITLE ... A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contract

Ehlers-Danlos syndrome, classical type.

Science.gov (United States)

Bowen, Jessica M; Sobey, Glenda J; Burrows, Nigel P; Colombi, Marina; Lavallee, Mark E; Malfait, Fransiska; Francomano, Clair A

2017-03-01

Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research. The authors recognized that the criteria would need updating, but viewed the Villefranche nosology as a good starting point. Since 1997, there have been major advances in the molecular understanding of classical EDS. Previous question marks over genetic heterogeneity have been largely surpassed by evidence that abnormalities in type V collagen are the cause. Advances in molecular testing have made it possible to identify the causative mutation in the majority of patients. This has aided the further clarification of this diagnosis. The aim of this literature review is to summarize the current knowledge and highlight areas for future research. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

My Dog's Cheeks: A PBL Project on Collagen for Cell Biology and Genetics Courses

Science.gov (United States)

Casla, Alberto Vicario; Zubiaga, Isabel Smith

2010-01-01

Students often have an oversimplified view of biological facts, which may hinder subsequent understanding when conceptual complexity gives rise to cognitive conflicts. To avoid this situation here, we present a PBL approach for the analysis of Ehlers-Danlos syndrome (EDS), which integrates a variety of topics in cell biology, genetics, and…

Resource Centres for Rare Oral Diseases – Why?

DEFF Research Database (Denmark)

Daugaard-Jensen, Jette; Gjørup, Hans

2010-01-01

.5-73) and the male/female ratio was equal (1.06) Results: A: Oligodontia (N=154 ) and Amelogenesis Imperfecta (N=146 ) were the most frequently diagnosed dental anomalies. B: Osteogenesis Imperfecta (N=88), Ectodermal Dysplasia (N=81), Ehlers Danlos Syndrome (61) and Marfan Syndrome (N=44) were the largest groups...

Crecimiento anual de cuatro especies arbóreas con yemas desnudas nativas de los bosques templados húmedos de Patagonia

OpenAIRE

Sosa, Claudia M; Puntieri, Javier G

2016-01-01

Las especies vegetales que habitan en regiones con bajo nivel de estacionalidad en el clima suelen presentar rasgos morfo-arquitecturales que ocurren con menor frecuencia en especies de regiones con clima estacional. El objetivo de este estudio fue evaluar el crecimiento primario en vivero de cuatro especies leñosas típicas de los bosques templados húmedos de Patagonia, conocidos como selva valdiviana, donde el grado de estacionalidad es menos marcado que en otros bosques patagónicos. Las esp...

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Science.gov (United States)

2018-02-19

Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

Filogenia de avispas del género Netelia (Hymenoptera: Ichneumonidae con énfasis en las especies costarricenses

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James Coronado-Rivera

2009-11-01

Full Text Available Se presentan los resultados del primer análisis cladístico realizado para el género Netelia. Éste se llevó a cabo con la ayuda de los programas Hennig86 y Tree Gardener 2.2, a través de una matriz de 79 taxones y 149 caracteres, descritos principalmente de la morfología externa y de los genitales de los machos, sólo tres caracteres están relacionados con la historia natural de las especies. Dentro del grupo de estudio se incluyeron a especies representantes de los 11 subgéneros de Netelia descritos en el mundo, aunque casi el 80% de las especies examinadas son costarricenses. Para poner a prueba la monofilia del género, también se incluyeron dentro del grupo de estudio a las cinco especies trifoninas Neliopisthus yui, Chiloplatys lucens, Phytodietus (Neuchorus penai, P. (N. lindus y P. (Phytodietus moragai. Se utilizó como especie externa a Labena zerita (Labeninae. Las estrategias de búsqueda de los árboles incluyeron la reconstrucción filogenética por parsimonia, sin y con peso sucesivo de los caracteres, a través de los comandos bb* y mhennig*. En el análisis sin peso sucesivo se obtuvieron 1 211 árboles igualmente parsimoniosos con un largo de 649 pasos, un Ci de 23 y un Ri de 68; mientras que en el análisis con peso sucesivo se obtuvieron 1 211 árboles con un largo de 719 pasos, un Ci de 20 y un Ri de 64. Los múltiples cladogramas obtenidos fueron resumidos a través de dos árboles consensos Majority rule, uno para cada estrategia de búsqueda. Se encontró sustento a favor de la monofilia del género Netelia, y los subgéneros N. (Apatagium, N. (Bessobates, N. (Monomacrodon, N. (Parabates, N. (Protonetelia, N. (Toxochilus y N. (Longiterebates, aunque este último resultó monofilético sólo en el análisis sin peso sucesivo. También se obtuvo soporte filogenético para los grupos de especies leo, unguicularis y emorsa propuestos por Townes (1938 para el subgénero N. (Netelia. Los resultados respaldan la sinonimia

LA INOCULACIÓN CON Glomus fasciculatum EN EL CRECIMIENTO DE CUATRO ESPECIES FORESTALES EN VIVERO Y CAMPO

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William Hernández

2009-01-01

Full Text Available La presente investigación se realizó para conocer la respuesta de 4 especies forestales a la aplicación del Glomus fasciculatum en vivero y campo. En la fase de vivero se evalúo diámetro basal, altura total, peso seco del follaje y radicular, absorción de nutrimentos en el follaje y el sistema radicular. En campo se cuantificó altura total, diámetro, y absorción de nutrimentos en el follaje. Los resultados mostraron que en vivero los mayores incrementos promedio, en los tratamientos inoculados, los registró el ronrón (Astronium graveolens, la teca (Tectona grandis y el amarillón (Terminalia amazonia, con 48,9, 35,2 y 30,6%, respectivamente; mientras que en melina (Gmelina arborea el incremento fue de 16,9%. El mayor incremento se registró en el peso seco del follaje y en el radicular con 30,8 y 63%, respectivamente. En la absorción de nutrimentos el ronrón mostró diferencias en Mg, Cu, Zn, Mn y Fe, tanto en el follaje como en el sistema radicular; sin embargo, melina fue la especie que registró las concentraciones de nutrimentos superiores, aunque no significativas; las demás especies no registraron diferencias significativas. En el campo, en las plantas inoculadas, solamente melina reflejó diferencias significativas en diámetro y altura total, con un incremento de 37,9 y 31,7%, respectivamente. La absorción de nutrimentos de melina, amarillón y ronrón fue en promedio 32,2, 19,8 y 6,6%, respectivamente, con una mayor absorción en Ca, Mn, K y Fe. La mortalidad en vivero fue nula, mientras que en el campo, varió de acuerdo con la especie y el tratamiento. El aumento en el crecimiento de las 4 especies fue la tendencia común, a excepción de teca, que en el campo no mostró resultados positivos.

Prospección y evaluación de especies con potencial de follaje para la elaboración de bouquets

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Gutiérrez Iveth Cristina

2007-06-01

Full Text Available

El presente trabajo incluyó labores de documentación, prospección, establecimiento, caracterización y evaluación de especies con potencial de follaje para uso en la industria de flor cortada. La fase de documentación se realizó en el Herbario Nacional de Colombia en donde se identificaron 88 especies; los departamentos de Cundinamarca, Antioquia, Valle del Cauca y Meta son las zonas con mayor número de especies referenciadas. En la fase de prospección se colectaron 105 especies, de las cuales se logró establecer en invernadero con éxito el 81%. Con las especies establecidas se realizaron tres evaluaciones para determinar el comportamiento de los tallos en cuarto frío, la vida en florero y el potencial de mercado. Las diferentes evaluaciones señalaron que Dianthus caryophyllus(var. Espiga, Coprosma kikiicu, Eucalipto sp.(var. Silver dolar, Euonymus japonicus L., Hedera madeirensis, Hedera helix (verde, Ligustrum lucidum, Fotinia serrulata, Protea grandiceps, Pyracantha coccinea y Rosmarinus oficcinalis son especies con potencial de follaje para su uso en bouquets por presentar tallos largos, erectos, firmes, forma atractiva, follaje denso, colores vistosos, brillo, consistencia en las hojas, buen comportamiento en cuarto frío, duración en florero y aceptación comercial.

ZEOLITAS EN LA FERTILIZACIÓN QUÍMICA DEL CACAO CCN-51 ASOCIADO CON CUATRO ESPECIES MADERABLES

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Fernando David Sánchez Mora

2014-05-01

Full Text Available Se evaluó el efecto de dos zeolitas comerciales del tipo clinoptilolita: Roca Mágica® (RM y Zeolite C® (ZC, incluidas en la fertilización química sobre la producción y rentabilidad del cacao “CCN-51”, de origen sexual, asociado con cuatro especies maderables [Caoba de montaña (Colubrina arborescens (Mill. Sarg, fernánsanchez (Triplaris cumingiana F., guayacán blanco (Cybistax donell-smithii Rose y laurel prieto (Cordia macrantha Chadat]. En la fertilización fueron utilizados los dos tipos de zeolita (RM y ZC y dos niveles (25 y 30%, más un testigo (sin zeolita. La fertilización se fraccionó en tres partes aplicándose urea, MgSO4, K2O y P2O5. Se empleó un diseño de parcelas divididas con cuatro especies maderables, cinco subtratamientos (tipos y niveles de zeolita y un testigo, en cuatro repeticiones. Se utilizó la prueba de Tukey al 5% de probabilidad. Se midió la fenología del cacao (brotación, floración, fructificación, cherelles wilt, número de mazorcas sanas y producción de cacao en kg ha-1. El mayor número de brotes los emitieron las plantas de cacao asociadas con fernánsanchez en la época lluviosa, posiblemente por la menor cobertura aérea de esta especie. El cacao alcanzó su mayor fructificación en la época lluviosa con las asociaciones fernánsanchez y guayacán y, 30% de ZC. El mayor número de mazorcas sanas, y producción de cacao fue obtenido con la asociación fernánsanchez en la época seca. La mayor rentabilidad se encontró con fernánsanchez y 25% de RM.

Hypermobility syndromes in paediatrics: progressions in assessment and management

OpenAIRE

Mooney, Alice Margaret

2016-01-01

Joint Hypermobility Syndrome (JHS) and Ehlers Danlos Syndrome-Hypermobility Type (EDS-HM) referred to collectively as Hypermobility Syndromes (HMS), are heritable disorders of connective tissue comprising symptomatic joint hypermobility predisposing to arthralgia, soft-tissue injury and joint instability which if not managed effectively result in ongoing cycles of disability. How HMS affects paediatric patients and how physiotherapists approach the condition in this population ...

Clinical Features of Ehlers-Danlos Syndrome

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Jui-Lung Yen

2006-01-01

Conclusion: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.

RELACIONES GENOMICAS ENTRE CUATRO ESPECIES DIPLOIDES DE TURNERA CON FLORES AMARILLAS (SERIE CANALIGERAE

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Aveliano Mercedes Fernández

1989-01-01

Full Text Available Los rasgos morfológicos y citogenéticos de los híbridos artificiales entre cuatro especies diploides (2n = 10: T.concinna, T.Krapovickasii, T.scabra y T.subulata han sido estudiados. Los híbridos fueron intermedios en varios caracteres, como el color de las flores, la longitud, la anchura y forma de las semillas, en algunos rasgos se parecían a uno o al otro padre. Todos los híbridos interespecíficos mostraron un alto porcentaje de PMC con cinco bivalentes. La meiosis de T.subulata x T.scabra fue regular (5 II. En los otros híbridos fue hallada una baja frecuencia de trivalentes o cuadrivalentes; estos trivalentes y cuadrivalentes son evidencia de translocaciones recíprocas. Puentes y fragmentos en anafase I y II muestran la presencia de inversiones paracéntricas. Los análisis morfológicos y citogenéticos de los híbridos indican una estrecha relación entre T.scabra y T.subulata y entre T.concinna y T.Krapovickasii respectivamente. Esta última especie tiene un par de cromosomas con satélites grandes. T.scabra y T.concinna están más alejadas. El estudio citogenético de todos los híbridos entre estas especies confirmaría que son taxones independientes. Ellos tienen el mismo genoma básico, que designamos Asu Asu de T. subulata, Asc Asc para T.scabra, Ak Ak para T. Krapovickasii y Ac Ac para T.concinna.

Physiotherapy Intervention for Joint Hypermobility in Three Cases with Heritable Connective Tissue Disorders

OpenAIRE

Kaux, Jean-François; Foidart-Dessalle, Marguerite; Croisier, Jean-Louis; Toussaint, Geoffrey; Forthomme, Bénédicte; Crielaard, Jean-Michel

2010-01-01

Introduction: In Joint Hypermobility Syndromes, chronic pain is the most disabling symptom. Its origin can be multiple (i.e. subluxations, sprains, pathologies of tendons, ligaments, peripheral nerves, multiple operations). The goal of this article was intended to discuss appropriate physiotherapy in hyperlax patients. Patients and Method: The recovery process was analyzed in three cases (Marfan Syndrome, Ehlers-Danlos Syndrome and Osteogenesis Imperfecta). Hypermobility was assessed using...

Evaluación de la degradabilidad in situ en bovinos suplementados con cuatro especies arbóreas

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María Roa V.

2012-04-01

Full Text Available Objetivo. Evaluar degradabilidad in situ en rumen de cuatro especies forrajeras: Acacia Roja (Delonix regia, pízamo (Eritryna glauca, Cratilia (Cratylia argentea y casco de vaca (Bahuinia variegata, para determinar su calidad nutricional. Materiales y métodos. Cuatro hembras rumino-fistuladas en un diseño de sobrecambio simple, pastoreando en Brachiaria decumbens, suplementadas en la mañana con tres kg de hojas deshidratadas de las cuatro especies mencionadas, de un año de establecidas y podadas cada 3 meses. En las pruebas in situ se utilizaron bolsas de nylon, adicionando 5 g de MS de cada arbórea/bolsa, incluyendo braquiaria, en diferentes horas (6, 12, 24, 48 y 72. Se evaluó la degradabilidad de la materia seca (DMS, fibra detergente neutro (DFDN fibra detergente ácido (DFDA, nitrógeno total (DNT y nitrógeno adherido a FDN (DNFDN. En el líquido ruminal se midió nitrógeno amoniacal a las 0, 4, 8 y 12 y pH a las 0, 3, 6, 9 y 12 horas. Resultados. La DMS fue mayor (p>0.05 para casco de vaca (53.3% y acacia roja (56.1% con relación a pízamo y cratilia. La DMS de braquiaria fue mayor (p>0.05 en 18.6% suplementando con casco de vaca con relación a las otras arbóreas. La DFDN potencial fue menor (p>0.05 para pízamo (7.6% en comparación con cratilia. La DFDN de braquiaria fue similar en todas las forrajeras. Conclusiones. Algunos componentes de las arbóreas tienen efecto asociativo en la cinética de la tasa de degradación de MS y FDA del pasto, siendo superiores (p>0.05 cuando se suplementó con casco de vaca.

Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome

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Diana Spinelli

2014-05-01

Full Text Available Ehlers–Danlos syndrome is a rare disease and a diagnostic challenge. This case report serves to remind the clinician that it is important to identify all affected patients in order to prevent complications.

Scalloping at the lumbosacral canal

International Nuclear Information System (INIS)

Reinhardt, R.

1987-01-01

Scalloping is an indentation of the dorsal side of the vertebral body (anterior wall of the lumbosacral or sacral canal) which typically involves several adjacent lumbal vertebral body segments and the anterior wall of the canalis sacralis. Occurrence without underlying disease is rare; it occurs most frequently with chondrodystrophy, neurofibromatosis, Morquio's syndrome, Hurler's syndrome, acromegaly, Ehlers-Danlos syndrome, Marfan's syndrome, cysts, tumors and in peridural lipomas. (orig.) [de

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis

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Ivan Romero Rivera

2000-08-01

Full Text Available Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left anterosuperior branch, and the chest x-ray showed an excavated pulmonary trunk with normal pulmonary flow.

Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome.

Science.gov (United States)

Jaiswal, Pratiksha; Shetty, Varun; Patel, Ebrahim; Shetty, Deviprasad

2018-05-01

Aortic aneurysms in childhood are rare disease entities and are usually seen in patients with genetic connective tissue disorders such as Marfans, Ehler-Danlos, and Loeys-Dietz syndrome (LDS). Patients affected with LDS present early in life and have a rapid disease progression. We report a case of repair of an ascending and aortic arch aneurysm in an infant with Loeys-Dietz syndrome. © 2018 Wiley Periodicals, Inc.

VARIABILIDAD MORFOLÓGICA DE LAS ESPECIES DEL COMPLEJO POA RESINULOSA (POACEAE Y SU RELACIÓN CON LAS ESPECIES DE LA SECCIÓN DIOICOPOA

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M. Gabriela Fernández Pepi

2008-01-01

Full Text Available El complejo Poa resinulosa incluye un grupo de especies conformado por P. calchaquiensis, P. pedersenii y P. resinulosa, de difícil delimitación debido a que las entidades son afines en cuanto a su morfología, aunque presentan distribución disyunta. Para evaluar y analizar a las especies del complejo Poa resinulosa y especies afines al mismo complejo, se midieron 40 caracteres morfológicos y anatómicos en ejemplares de Poa calchaquiensis, P. lanigera, P. pilcomayensis y P. resinulosa. Esos datos se incorporaron a la matriz del conjunto de especies de Poa sección Dioicopoa confeccionada por Giussani (2000, incluyendo también a P. nubensis una nueva especie afín a P. calchaquiensis. Mediante el análisis de componentes principales y pruebas estadísticas, se circunscribió a las especies del complejo Poa resinulosa. Se describió a P. resinulosa como una variedad de P. ligularis, de la que se diferencia por poseer lígula corta, hojas y cañas de menor longitud, menor ancho de la lámina y estomas de menor tamaño. Se presenta una clave para la identificación de Poa ligularis var. resinulosa y taxones afines, y un mapa con la distribución geográfica de ambas variedades de P. ligularis.

Biglycan and decorin differentially regulate signaling in the fetal membranes

Science.gov (United States)

Wu, Zhiping; Horgan, Casie E.; Carr, Olivia; Owens, Rick T.; Iozzo, Renato V.; Lechner, Beatrice E.

2014-01-01

Preterm birth is the leading cause of newborn mortality in the United States and about one third of cases are caused by preterm premature rupture of fetal membranes, a complication that is frequently observed in patients with Ehlers-Danlos Syndrome. Notably, a subtype of Ehlers-Danlos Syndrome is caused by expression of abnormal biglycan and decorin proteoglycans. As compound deficiency of these two small leucine-rich proteoglycans is a model of preterm birth, we investigated the fetal membranes of Bgn−/−;Dcn−/− double-null and single-null mice. Our results showed that biglycan signaling supported fetal membrane remodeling during early gestation in the absence of concomitant changes in TGFβ levels. In late gestation, biglycan signaling acted in a TGFβ–dependent manner to aid in membrane stabilization. In contrast, decorin signaling supported fetal membrane remodeling at early stages of gestation in a TGFβ–dependent manner, and fetal membrane stabilization at later stages of gestation without changes in TGFβ levels. Furthermore, exogenous soluble decorin was capable of rescuing the TGFβ signaling pathway in fetal membrane mesenchymal cells. Collectively, these findings provide novel targets for manipulation of fetal membrane extracellular matrix stability and could represent novel targets for research on preventive strategies for preterm premature rupture of fetal membranes. PMID:24373743

Evaluación de la degradabilidad in situ en bovinos suplementados con cuatro especies arbóreas

OpenAIRE

Roa V, María; Muñoz M, Javier

2012-01-01

Objetivo. Evaluar degradabilidad in situ en rumen de cuatro especies forrajeras: Acacia Roja (Delonix regia), pízamo (Eritryna glauca), Cratilia (Cratylia argentea) y casco de vaca (Bahuinia variegata), para determinar su calidad nutricional. Materiales y métodos. Cuatro hembras rumino-fistuladas en un diseño de sobrecambio simple, pastoreando en Brachiaria decumbens, suplementadas en la mañana con tres kg de hojas deshidratadas de las cuatro especies mencionadas, de un año de establecidas y ...

Scalloping at the lumbosacral canal

Energy Technology Data Exchange (ETDEWEB)

Reinhardt, R.

1987-07-01

Scalloping is an indentation of the dorsal side of the vertebral body (anterior wall of the lumbosacral or sacral canal) which typically involves several adjacent lumbal vertebral body segments and the anterior wall of the canalis sacralis. Occurrence without underlying disease is rare; it occurs most frequently with chondrodystrophy, neurofibromatosis, Morquio's syndrome, Hurler's syndrome, acromegaly, Ehlers-Danlos syndrome, Marfan's syndrome, cysts, tumors and in peridural lipomas.

Percutaneous treatment of a ruptured superior mesenteric artery aneurysm in a child

Energy Technology Data Exchange (ETDEWEB)

Oechsle, Susanne; Vollert, Kurt; Buecklein, Wolfgang; Michl, Wolfgang; Roemer, Frank W. [Klinikum Augsburg, Department of Radiology, Augsburg (Germany)

2006-03-15

Splanchnic artery aneurysms are very rare in children. We report a 10-year-old girl with a large atraumatic ruptured superior mesenteric artery aneurysm that was considered inoperable. She was ultimately treated with two percutaneous US-guided thrombin injections, which led to complete occlusion of the aneurysm. The aetiology of the aneurysm remained unclear, but a family history was suggestive of a congenital connective tissue disease such as Ehlers-Danlos syndrome subtype IV. (orig.)

Percutaneous treatment of a ruptured superior mesenteric artery aneurysm in a child

International Nuclear Information System (INIS)

Oechsle, Susanne; Vollert, Kurt; Buecklein, Wolfgang; Michl, Wolfgang; Roemer, Frank W.

2006-01-01

Splanchnic artery aneurysms are very rare in children. We report a 10-year-old girl with a large atraumatic ruptured superior mesenteric artery aneurysm that was considered inoperable. She was ultimately treated with two percutaneous US-guided thrombin injections, which led to complete occlusion of the aneurysm. The aetiology of the aneurysm remained unclear, but a family history was suggestive of a congenital connective tissue disease such as Ehlers-Danlos syndrome subtype IV. (orig.)

High Prevalence of Hypermobility and Benign Joint Hypermobility Syndrome (BJHS) in Oman

OpenAIRE

Clark, Carol J.; Simmonds, Jane V.

2007-01-01

PURPOSE: To ascertain the prevalence of hypermobility and BJHS in a female patient population with musculoskeletal pain and compare the associated features with a pain free control group. RELEVANCE: Hypermobility is linked with increased musculoskeletal signs and symptoms. The existence of hypermobility with pain may indicate the presence of BJHS, which is a heritable connective tissue disorder synonymous with Ehlers-Danlos type III. Hypermobility is known to be race dependant with Asians and...

LA CONCERTACIÓN CON LA ADMINISTRACIÓN ESPECIAL REFERENCIA A LA CONCERTACIÓN INFORMAL

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Jorge Agudo González

2011-12-01

Full Text Available La concertación con la Administración constituye un fenómeno jurídico habitual en el moderno Estado cooperativo, donde el derecho administrativo se concibe como ciencia de dirección, y cuyo objetivo es dirigir los procesos sociales con eficacia. Así pues, el derecho interioriza un enfoque basado en la capacidad inductora de lo jurídico, creando un clima propicio para la efectividad del derecho. Desde esta perspectiva, la concertación con la Administración tiene una importancia especial. El fenómeno de la concertación es variable, pero en todo caso debe encuadrarse entre la denominada actuación material de la Administración. El análisis de esta forma de actuación administrativa se aborda ofreciendo una unidad sistemática que facilita la integración de las diferentes cuestiones dogmáticas planteadas, para lo cual se trata el tema desde la perspectiva de la teoría de las relaciones jurídico-administrativas, debido a la insuficiencia de la doctrina de las formas jurídicas de la actuación administrativa para aprehender dogmáticamente la actuación material de la Administración. Del mismo modo, se afronta el tema clave de la concertación informal y la vinculación de la Administración a la Ley, y se finaliza con el planteamiento de los importantes problemas de tutela jurídica que este tipo de actuación material puede dar lugar.

Especies del Fitoplancton Presentes en el Lago Tonatiahua, Morelos, México Especies del Fitoplancton Presentes en el Lago Tonatiahua, Morelos, México

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Roberto Trejo Albarrán

2012-02-01

Full Text Available Se llevó a cabo un reconocimiento de las especies del fitoplancton del Lago Tonatiahua, Morelos, México, registrándose un total de 24 especies, incluidas en las siguientes clases: Chlorophyceae con 4 especies, Chlamydophyceae con 3 especies, Cyanophyceae con 3 especies, Euglenophyceae con 2 especies, Dinophyceae con 1 especie y Bacillariophyceae con 11, se da una descripción de cada una de ellas y la distribución que presentaron en la columna de agua durante el estudio. An examination of the phytoplankton species from the Tonatiahua lake of Morelos, Mexico was carried out. 24species were examinated. They were included in the following classification: Chlorophyceae with 4species, Chlamydophyceae with 3species, Cyanophyceae with 3 species, Euglenophyceae with 2 species, Dinophyceae with 1 species, Bacillariophyceae with 11 species, a description of each are and its distribution in a water column during the test are presented in this paper.

Estudio comparativo in vitro de estrategias adaptativas en especies de Hylocereus, Cactaceae, con distribución ecológica contrastada

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Máximo Moreira-Palacios

2017-08-01

Full Text Available Hylocereus ocamponis e Hylocereus triangularis son dos especies de cactáceas estrechamente relacionadas filogenéticamente pero que muestran hábitos de crecimiento completamente contrastados. La primera abunda en ecosistemas secos y la segunda en bosque tropical lluvioso, en bosques secos occidentales y la región amazónica del Ecuador, respectivamente. En el presente trabajo se empleó el cultivo in vitro como plataforma para el estudio de adaptaciones en ambas especies. El cultivo in vitro ofrece la posibilidad de estudiar de forma comparada la respuesta de explantes a reguladores del crecimiento en condiciones altamente controladas. Se evaluaron combinaciones de reguladores de crecimiento thidiazuron (TDZ, bencil amino purina (BAP, ácido naftalenacético (NAA, ácido 2,4-diclorofenoxiacético (2,4-D y Kinetina (KIN en diferentes tipos de explantes para estudiar sus respuestas morfogenéticas y hacer una relación con la tolerancia al estrés y capacidad adaptativa (plasticidad fenotípica en H. ocamponis y H. triangularis. Los explantes de H. triangularis mostraron un mayor rango dinámico de respuesta a los tratamientos, especialmente durante la formación de cladodios y callos; la mejor formación de brotes (1,5 por explante y callos (0,75 por explante fue al aplicar 0,5 µl de TDZ con 0,5 µl de NAA. Los explantes de H. ocamponis mostraron casi siempre una inhibición ante los tratamientos y la mejor respuesta fue a la formación de raíces (1,43 por explante con 5 µl de BAP lo que puede estar directamente relacionado con su hábitat de procedencia. El cultivo in vitro resultó ser una metodología útil para el estudio de adaptaciones en especies con distribución ecológica contrastada y reveló una gran plasticidad en H. triangularis lo que concuerda con su capacidad de expansión de hábitat.

Estrategias bioinformáticas y moleculares para aislar genes con potencial biotecnológico a partir de especies huérfanas de la ciencia

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Juan Castro Gómez

2013-12-01

Full Text Available La amazonía peruana es megabiodiversa y posee millones de genes con potencial biotecnológico que debemos descubrir. Para identificarlos, aislarlos y poder aprovecharlos tenemos que secuenciar los genomas y transcriptomas de las especies más importantes. Sin embargo, hasta concretar este tipo de proyectos, combinando estrategias bioinformáticas y moleculares podemos aislar genes con potencial biotecnológico. El objetivo fue aislar genes involucrados en la biosíntesis de vitamina C en Myrciaria dubia. De acuerdo a las relaciones filogenéticas de M. dubia con otras especies, se buscaron secuencias homólogas en el banco de genes del gen que codifica L-galactono-1,4-lactona deshidrogenasa (L-GalLDH. En base al alineamiento múltiple obtenido, se construyó un filograma consenso y de los clados formados se diseñaron cebadores degenerados. Los frutos fueron obtenidos de una colección de germoplasma y el ARN total se purificó, el ADNc se sintetizó y amplificó con cebadores degenerados. El amplicón sintetizado se clonó y secuenció con técnicas estándares. Con las aproximaciones empleadas se logró aislar, clonar y secuenciar un segmento de 921 pb del gen L-GalLDH de M. dubia. En conclusión, con las estrategias bioinformáticas y moleculares descritas se aisló el segmento de un gen que codifica la enzima L-galactono-1,4-lactona deshidrogenasa de la vía biosintética de vitamina C en M. dubia, especie de la que no se disponía de secuencias génicas. Con estas mismas aproximaciones será posible aislar genes de interés biotecnológico de esta y otras especies amazónicas que aún no cuentan con bases de datos de secuencias nucleotídicas.

AORTIC ANEURYSM: A RARE CAUSE OF ORTNER’S SYNDROME

OpenAIRE

Sukanta; Biswal Pradipta; Swetapadma; Jyoti; Manoranjan

2014-01-01

A 60 year old male patient presented with hoarseness of voice lasting for 2 months. First he was examined by the otorhinolaryngologist of our hospital, who noticed absence of movements of the left vocal cord. Chest X-ray showed a large opacity in the left upper zone and the patient was referred to the pulmonologist. His general physical examination was unremarkable not having any stigmata of Marfan's or Ehler Danlos syndrome. On chest auscultation, a systolic flow murmur was ...

Metodología para la Adaptación Curricular Especial Necesaria a escolares con necesidades educativas especiales

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Agripina Colás-Pons

2017-11-01

Full Text Available En las instituciones educativas donde se encuentran presente los escolares con necesidad educativa especial, es preciso apoyarse en diferentes vías para que asimilen los contenidos necesarios para su formación, situación que exige de la preparación del docente que conduce el proceso de aprendizaje, se ofrecen algunas indicaciones metodológicas que ayudarían al docente a adquirir el nivel de preparación deseado, para su desempeño profesional al interactuar con los contenidos para adaptarlos a la situación concreta de su grupo y de cada escolar de manera individual, a partir de los resultados del diagnóstico de aprendizaje realizado.

Metodología de intervención nutricional en un colectivo especial. Personas con síndrome de Down

OpenAIRE

Soler Marín, Antonio

2004-01-01

En esta tesis se realiza un exhaustivo estudio nutricional en 38 sujetos (23 hombres y 15 mujeres) discapacitadas intelectuales con síndrome de Down con edades comprendidas entre los 16 y 38 años. Los sujetos estudiados pertenecen a dos centros ocupacionales de la Región de Murcia. Debido a la alta prevalencia de sobrepeso y obesidad en este colectivo especial, se realizó una evaluación nutricional inicial (bioquímicas, antropométricas y de ingesta alimentaria) y una valoración del grado ...

Filogenia de avispas del género Netelia (Hymenoptera: Ichneumonidae con énfasis en las especies costarricenses

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James Coronado-Rivera

2009-11-01

Full Text Available Se presentan los resultados del primer análisis cladístico realizado para el género Netelia. Éste se llevó a cabo con la ayuda de los programas Hennig86 y Tree Gardener 2.2, a través de una matriz de 79 taxones y 149 caracteres, descritos principalmente de la morfología externa y de los genitales de los machos, sólo tres caracteres están relacionados con la historia natural de las especies. Dentro del grupo de estudio se incluyeron a especies representantes de los 11 subgéneros de Netelia descritos en el mundo, aunque casi el 80% de las especies examinadas son costarricenses. Para poner a prueba la monofilia del género, también se incluyeron dentro del grupo de estudio a las cinco especies trifoninas Neliopisthus yui, Chiloplatys lucens, Phytodietus (Neuchorus penai, P. (N. lindus y P. (Phytodietus moragai. Se utilizó como especie externa a Labena zerita (Labeninae. Las estrategias de búsqueda de los árboles incluyeron la reconstrucción filogenética por parsimonia, sin y con peso sucesivo de los caracteres, a través de los comandos bb* y mhennig*. En el análisis sin peso sucesivo se obtuvieron 1 211 árboles igualmente parsimoniosos con un largo de 649 pasos, un Ci de 23 y un Ri de 68; mientras que en el análisis con peso sucesivo se obtuvieron 1 211 árboles con un largo de 719 pasos, un Ci de 20 y un Ri de 64. Los múltiples cladogramas obtenidos fueron resumidos a través de dos árboles consensos Majority rule, uno para cada estrategia de búsqueda. Se encontró sustento a favor de la monofilia del género Netelia, y los subgéneros N. (Apatagium, N. (Bessobates, N. (Monomacrodon, N. (Parabates, N. (Protonetelia, N. (Toxochilus y N. (Longiterebates, aunque este último resultó monofilético sólo en el análisis sin peso sucesivo. También se obtuvo soporte filogenético para los grupos de especies leo, unguicularis y emorsa propuestos por Townes (1938 para el subgénero N. (Netelia. Los resultados respaldan la sinonimia

Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

OpenAIRE

Gera, D. N.; Ghuge, P. P.; Gandhi, S.; Vanikar, A. V.; Shrimali, J. D.; Kute, V. B.; Trivedi, H. L.

2013-01-01

Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated...

EVALUACIÓN DE CUATRO ESPECIES FORESTALES ASOCIADAS CON CAFÉ (Coffea Arabica L. Y EN MONOCULTIVO EN EL LITORAL ECUATORIANO

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Pedro Suatunce Cunuhay

2009-12-01

Full Text Available Se implantó un ensayo de sistema agroforestal con café (Coffea arabica L. en el área del cantón Quevedo, en la Finca Experimental “La Represa”, en el año de 1997. Se plantaron cuatro especies forestales en asociación con café (C. arabica L., y también se establecieron parcelas de árboles y café en monocultivo, en parcelas contiguas. Las especies forestales utilizadas fueron el guayacán blanco (Cybistax donnell-smithii Rose, laurel prieto (Cordia megalantha Chadat, fernansánchez (Triplaris cumingiana Wedd y teca (Tectona grandis L. F.. El objetivo fue comparar la producción de madera y café bajo los sistemas agroforestales y en los sistemas de plantación en monocultivo tanto de los árboles como del café. La producción por hectárea de café fue mayor en monocultivo. La incidencia (% del minador del café (Perileucoptera coffeella Green fue baja en los dos sistemas, además no hubo diferencias significativas entre los cafetales asociados y en monocultivo. El volumen de las especies forestales fue mayor en los sistemas agroforestales. Según la evaluación del uso eficiente de la tierra, cualquiera de los sistemas agroforestales evaluados es mejor que los cultivos puros de estas especies.

Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder

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Yael Gazit

2016-10-01

Full Text Available Ehlers–Danlos syndrome (EDS—hypermobility type (HT is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints. Soft tissue overuse injury may lead to tendonitis and bursitis without joint inflammation in most cases. Ehlers–Danlos syndrome-HT carries a high potential for disability due to recurrent dislocations and subluxations and chronic pain. Throughout the years, extra-articular manifestations have been described, including cardiovascular, autonomic nervous system, gastrointestinal, hematologic, ocular, gynecologic, neurologic, and psychiatric manifestations, emphasizing the multisystemic nature of EDS-HT. Unfortunately, EDS-HT is under-recognized and inadequately managed, leading to neglect of these patients, which may lead to severe disability that almost certainly could have been avoided. In this review article we will describe the known manifestations of the extra-articular systems.

Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child.

Science.gov (United States)

Gera, D N; Ghuge, P P; Gandhi, S; Vanikar, A V; Shrimali, J D; Kute, V B; Trivedi, H L

2013-11-01

Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

ESTRES HIDRICO EN DOS ESPECIES DE CAPSICUM CON DIFERENTES GRADOS DE DOMESTICACION

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Alejandra Nieto Garibay

2009-12-01

Full Text Available La germinación en semillas está comúnmente afectada por el estrés hídrico. El objetivo de este estudio fue comparar el efecto del estrés hídrico en el porcentaje final de germinación, tasa media de germinación, y longitud de epicotilo e hipocotilo, índice de radícula:tallo de las especies de chile semi-domesticado Capsicum frutescens L. y cultivado Capsicum annuum L. Las semillas fueron expuestas a ocho niveles de potencial hídrico (Ψ inducidas con polietilen glicol (PEG 8000. Capsicum annuum presentó el porcentaje final de germinación de 73%; sin embargo, se presentaron diferencias no significativas (P=0.01 entre tratamientos en cada especie. La tasa media de germinación fue menor en C. frutescens que en C. annuum. El índice de la relación radícula:tallo fue mayor para C. annuum que para C. frutescens. Las diferencias entre el índice radícula:tallo fue significativa entre tratamientos en el caso de C. annuum, mientras que para C. frutescens no. El índice radícula:tallo fue un indicador relevante de tolerancia a la sequía  en ambas especies de chile. Un incremento en el índice radícula:tallo como una función de los niveles de estrés hídrico sugiere un efecto promotor en C. annuum mejorando el crecimiento de plántula bajo estrés hídrico. En el caso de C. frutescens, no se evidenció una disminución en el índice radícula:tallo. Lo cual sugiere una característica adaptativa del crecimiento bajo condiciones climáticas aridas y semiaridas en Baja California Sur.

Leucaena lanceolata S. Watson ssp. lanceolata, ESPECIE FORESTAL CON POTENCIAL PARA SER INTRODUCIDA EN SISTEMAS SILVOPASTORILES

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María L. Román-Miranda

2013-01-01

Full Text Available La utilización de especies forestales en los sistemas de producción agropecuaria contribuye a reducir la presión en los bosques naturales y se pueden incorporar en áreas no arboladas. El objetivo de este estudio fue evaluar la calidad nutritiva, germinación, desarrollo de plántula en vivero y diversidad de usos de Leucaena lanceolata S. Watson ssp. lanceolata. El material comestible y las semillas se colectaron en Tomatlán, Jalisco. Se realizaron análisis bromatológicos, pruebas de escarificación y evaluación de plántula en vivero sobre tres suelos con diferente pH. El experimento se analizó en un diseño completamente al azar con comparación de medias de Tukey (P ≤ 0.05. Además, se hicieron entrevistas a productores, una revisión bibliográfica y consulta de ejemplares en los herbarios para conocer los usos locales y potenciales de la especie. Los resultados indican alto contenido de materia seca (97.40 % y proteína cruda (29.05 %, mayor germinación en los tratamientos térmicos, mejor desarrollo de la plántula en el suelo ligeramente ácido (6.57 y la diversidad de usos incluye leña, forraje y madera, entre otros. Por el alto valor nutritivo y diversidad de usos en el medio rural, L. lanceolata representa una opción viable para utilizarse en sistemas silvopastoriles del trópico seco.

Multicentre study on capsular closure versus non-capsular closure during hip arthroscopy in Danish patients with femoroacetabular impingement (FAI)

DEFF Research Database (Denmark)

Dippmann, Christian; Kraemer, Otto; Lund, Bent

2018-01-01

in patients without additional risk factors for instability such as hypermobility or dysplasia of the hip. We hypothesised that capsular closure will lead to a superior outcome in hip arthroscopy for femoroacetabular impingement syndrome (FAIS) compared with non-capsular closure. METHODS AND ANALYSIS...... years and FAIS according to the Warwick agreement. Exclusion criteria are: previous hip surgery in either hip, previous conditions of Legg-Calvé-Perthes or slipped capital femoral epiphysis, malignant disease, recent hip or pelvic fractures, arthritis, Ehlers-Danlos or Marfan disease, recent (within 6...

Hemodynamic Instability after Low-Energy Thigh Contusion Caused by Injury to the Femoral Artery: A Case Report and Literature Review

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Juan Miguel Rodríguez-Roiz

2016-01-01

Full Text Available Acute vascular injuries have been described in relation to high-energy trauma accidents or in patients undergoing surgery in the femoral area. We describe a healthy patient who sustained a direct, low-energy contusion in the thigh and presented haemodynamic instability. Arteriography was used to locate the point of bleeding, and embolisation and vessel occlusion were carried out to stop the haemorrhage. The genetic study identified the COL3A1 gene mutation; accordingly, the patient was diagnosed with the Ehlers-Danlos syndrome type IV (vascular type.

Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

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D N Gera

2013-01-01

Full Text Available Aortic dissection (AD is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

TRAMPEO DE Phytophthora cinnamomi EN BOSQUE DE ENCINO CON DOS ESPECIES ORNAMENTALES E INDUCCIÓN DE SU ESPORULACIÓN

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Alejandra Almaraz-Sánchez

2013-01-01

Full Text Available La mortalidad del encino se ha acentuado recientemente en varios estados del país. La etiología en muchos casos se desconoce. Los bosques de encino están siendo afectados por la “enfermedad de la tinta” (Phytophthora cinnamomi Rands. en los estados de Colima, Jalisco y Guerrero. La enfermedad causada por P. cinnamomi es de gran importancia; sin embargo, el aislamiento y la esporulación del patógeno representan una gran dificultad. Debido a lo anterior, los objetivos del presente estudio fueron a evaluar la eficiencia de dos plantas trampa, Camellia japonica y Rhododendron indicum (L. Sweet utilizando una suspensión de suelo y b inducir la esporulación del patógeno. Para ello, discos de tejido foliar (6 mm de las especies trampa fueron embebidos en una suspensión de suelo por 24 y 48 h para luego ser sembrados en medio selectivo PARPH. La especie R. indicum presentó una mayor efectividad de captura de 64.10 % comparada con 6.83 % de C. japonica. Los mejores resultados de esporulación se obtuvieron con una mezcla de agua-suelo (350 mL-200 g.

Revegetación de áreas degradadas con especies nativas Revegetation of degraded areas with native species

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Antonio Daniel Dalmasso

2010-06-01

Full Text Available El área de trabajo se localiza al sur de Malargue-Mendoza; es un clima árido, con una precipitación media anual de 134 mm y una temperatra media anual de 13,3°C. Se evalúan los resultados de la revegetación con especies nativas en áreas degradadas por la actividad petrolera propendiendo que los ecosistemas alterados alcancen una mayor estabilidad, en lo posible similar a la situación previa al impacto. Se realizó un inventario geomorfológico y de vegetación estableciéndose hipótesis dinámicas de vegetación. A través del enfoque geosinfitosociológico, y en función de la dinámica vegetal, se seleccionaron un total de 10 especies que fueron reproducidas en vivero y establecidas en tres plataformas petroleras del área, tanto en otoño como en primavera. El diseño experimenal fue de bloques al azar con 10 especies y 20 repeticiones dentro de cada plataforma. En todas ellas se roturó el suelo y se establecieron las plantas y luego de cuatro años de registros, se realizó el análisis estadístico de la evolución temporal de las variables altura, diámetro de copa y porcentaje de supervivencia por especie. Para las mismas variables se comparó el comportamiento medio de las distintas especies mediante ANAVA y prueba de LSD de Fisher (a= 5%. Las poblaciones de plantas del ensayo se ajustaron a una distribución normal con varianzas no homogéneas (Kolmogorov- Smirnov y Bartlett. Al cuarto año de establecidas las plantas se evaluó el grado de recubrimiento de las plataformas asistidas respecto del Monte Natural. Los análisis mostraron diferencias estadísticamente significativas entre las especies plantadas; destacándose por su alto poder de recubrimiento, en todas las plataformas, Atriplex lampa, Prosopis flexuosa var. depressa y Cercidium praecox ssp. glaucum. En una plataforma, la diversidad vegetal a los cuatro años de implantación representó el 61% de la diversidad del monte, mientras que en las otras se alcanzó un

Dos nuevas especies de cangrejos del género Neostrengeria Pretzmann, 1965, de Colombia (Crustacea: Decapoda: Pseudothelphusidae, con actualización de la clave de las especies del género

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MARTHA R. CAMPOS

2008-12-01

Full Text Available Se describen dos nuevas especies de Neostrengeria Pretzmann, 1965, N. bataensis, de Santa María, Departamento de Boyacá y N. celioi, de Aguazul, Departamento de Casanare, en la vertiente oriental de los Andes Orientales. Con la adición de las nuevas especies, el número de especies del género se incrementa a 23. Las nuevas especies se diferencian de las otras del género principalmente en la morfología del primer gonopodo del macho, particularmente en la forma de los lóbulos laterales y accesorios, el contorno del ápice, la proyección mesocaudal y el lóbulo mesial. El género Neostrengeria es endémico de Colombia y se distribuye en las dos vertientes y el altiplano de la Cordillera Oriental, en un rango de elevación de 470 a 3000 m. Se presenta una clave para la identificación de las especies basada esencialmente en la morfología del primer gonopodo del macho y de los pereopodos.

Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type: it is a challenge

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Scheper MC

2015-08-01

Full Text Available Mark C Scheper,1,2 Janneke E de Vries,1–3 Jeanine Verbunt,3,4 Raoul HH Engelbert1,2 1School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, 2Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, 3Department of Rehabilitation Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht; 4Adelante, Center of expertise in Rehabilitation and Audiology, Hoensbroek, the Netherlands Abstract: Generalized joint hypermobility (GJH is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT. Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1 and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2. In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3. Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the

Trabeculectomy with scleral patch graft for advanced glaucoma in ehler–danlos syndrome

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Dhanya Cheriyath; Shabana Bharathi; Ganesh V Raman

2016-01-01

We report a case of secondary glaucoma in Ehler–Danlos syndrome (EDS) Type VI, which was uncontrolled with maximal medical therapy, and was subsequently managed surgically. EDS comprises a subgroup of heritable connective tissue disorders characterized by generalized joint hypermobility, skin hyperextensibility, and tissue fragility. The surgical challenges in these patients are presence of scleral thinning, vascular fragility, and poor wound healing. Surgical intervention such as trabeculect...

Construcción del concepto de especie focal a través de una indagación con escarabajos coprófagos: propuesta metodológica

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Echeverri Tique, José Javier

2011-01-01

La propuesta metodológica para la construcción del concepto de especie focal a través de la indagación con escarabajos coprófagos, se fundamenta en el Aprendizaje Basado en Problemas y la indagación científica articulada con el monitoreo biológico con escarabajos coprófagos y su función como bioindicadores en la construcción de conocimiento. / Abstract. The proposed methodology for the construction of the focal species concept through inquiry and dung beetles, is based on problem-based learni...

Caracterización de nichos tróficos con base en la morfología de las especies de una comunidad de aves de la Vega, Cundinamarca (Colombia

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Fidel Francisco Botero Castro

2006-01-01

en un espacio generado a partir de los componentes principales, las especies se agrupan de manera concordante con los gremios tróficos establecidos para esta comunidad. Se plantea la hipótesis de la reducción en los tamaños de las especies, a partir de los resultados del análisis discriminante entre las muestras de campo y las del Instituto de Ciencias Naturales, que datan de muestreos realizados entre 1964 y 1966, el cual separa los dos grupos con un grado alto de confianza.

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers–Danlos syndrome

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Salvatore Savasta

2015-01-01

Conclusion: To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers–Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained.

"Orobanche ballotae" A. Pujadas ("Oronbanchaceae"), especie nueva

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Pujadas Salvá, Antonio J.

1997-01-01

Orobanche ballotae A. Pujadas (Orobanchaceae), especie. Se describe para el S de la Península Ibérica una especie nueva del género Orobanche L., de la sección Orobanche, Grex Minores G. Beck. Se destacan sus caracteres morfológicos que permiten diferenciarlo claramente de O. minor Sm., especie con la que presenta ciertas semejanzas.

Nereididae (Annelida, Polychaeta colectados en las campañas “Fauna II, III, IV” (Proyecto “Fauna Ibérica” y catálogo de las especies conocidas para el ámbito ibérico

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Núñez, Jorge

2002-06-01

Full Text Available A check-list of 19 polychaetes species belonging to the family Nereididae is made, from the material collected during the Cruises “Fauna Ibérica II, III and IV”. Of these, data on the sampling stations are given. As a result of the identification of nereidid specimens, three new records for the Iberian Peninsula were found, Ceratonereis vittata Langerhans, 1884, Neanthes rubicunda (Ehlers, 1864 and Nereis perivisceralis Claparède, 1864. An updated catalogue is also presented, with the 36 nereidid species known for the Iberian Peninsula.

Se confecciona una lista de 19 especies de poliquetos pertenecientes a la familia Nereididae, a partir del material colectado en las campañas oceanográficas “Fauna Ibérica II, III y IV”. De éstas, se aportan datos sobre las estaciones de muestreo. De todo el material identificado son nuevas citas para la Península Ibérica tres especies: Ceratonereis vittata Langerhans, 1884, Neanthes rubicunda (Ehlers, 1864 y Nereis perivisceralis Claparède, 1864. También se aporta un catálogo actualizado de los neréididos conocidos para la Península Ibérica compuesto por 36 especies.

Una nueva especie de Aragoa

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Romero Castañeda Rafael

1958-09-01

Full Text Available Especie bien caracterizada, fácilmente distinguible de las hasta ahora conocidas, por sus hojas verticiladas de a tres, espatuladas y el tallo completamente glabro lo mismo que las ramas.  Por sus hojas carinadas y el tallo glabro se acerca a Aragoa occidentalis, siendo distinta en lo demás; por las hojas carinadas es afín de A. cupressina. pero presenta con ésta y las restantes especies, notable diferencia.  Especie dedicada al doctor Armando Dugand Gnecco, botánico colombiano cuyos estudios sobre la flora nacional son de gran importancia.

UN HELICTERES NUEVO DE MEXICO, NEXO ENTRE LAS ESPECIES ASIATICAS y AMERICANAS

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Carmen L. Cristóbal

1987-01-01

Full Text Available Una nueva especie, Helicteres vegae (Sterculiaceae, de Sinaloa, México es descripta e ilustrada. Se encontró el número de cromosomas 2n = 18. H. vegae se compara con el resto de las especies mexicanas y se proporciona una clave. Su afinidad con la de Asia y las especies americanas es discutida. H. vegae junto con H. Rekoí y H.carthagenensis se consideran las más diferenciadas de las especies americanas. Se propone una posible área de origen de América para Helicteres , incluido en esta área se encuentran los otros dos nuevos géneros mundiales de la tribu Helictereae.

Spontaneous coronary artery dissection and its association with heritable connective tissue disorders.

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Henkin, Stanislav; Negrotto, Sara M; Tweet, Marysia S; Kirmani, Salman; Deyle, David R; Gulati, Rajiv; Olson, Timothy M; Hayes, Sharonne N

2016-06-01

Spontaneous coronary artery dissection (SCAD) is an under-recognised but important cause of myocardial infarction and sudden cardiac death. We sought to determine the role of medical and molecular genetic screening for connective tissue disorders in patients with SCAD. We performed a single-centre retrospective descriptive analysis of patients with spontaneous coronary artery disease who had undergone medical genetics evaluation 1984-2014 (n=116). The presence or absence of traits suggestive of heritable connective tissue disease was extracted. Genetic testing for connective tissue disorders and/or aortopathies, if performed, is also reported. Of the 116 patients (mean age 44.2 years, 94.8% women and 41.4% with non-coronary fibromuscular dysplasia (FMD)), 59 patients underwent genetic testing, of whom 3 (5.1%) received a diagnosis of connective tissue disorder: a 50-year-old man with Marfan syndrome; a 43-year-old woman with vascular Ehlers-Danlos syndrome and FMD; and a 45-year-old woman with vascular Ehlers-Danlos syndrome. An additional 12 patients (20.3%) had variants of unknown significance, none of which was thought to be a definite disease-causing mutation based on in silico analyses. Only a minority of patients with SCAD who undergo genetic evaluation have a likely pathogenic mutation identified on gene panel testing. Even fewer exhibit clinical features of connective tissue disorder. These findings underscore the need for further studies to elucidate the molecular mechanisms of SCAD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

The differential diagnosis of children with joint hypermobility: a review of the literature

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Elliott Elizabeth J

2009-01-01

Full Text Available Abstract Background In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms. Methods We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT. Results 3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility. There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type, suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based. Conclusion There is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management. Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using both the term Joint Hypermobility Syndrome and their HDCT diagnosis.

Primary extracranial vertebral artery aneurysms.

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Morasch, Mark D; Phade, Sachin V; Naughton, Peter; Garcia-Toca, Manuel; Escobar, Guillermo; Berguer, Ramon

2013-05-01

Extracranial vertebral artery aneurysms are uncommon and are usually associated with trauma or dissection. Primary cervical vertebral aneurysms are even rarer and are not well described. The presentation and natural history are unknown and operative management can be difficult. Accessing aneurysms at the skull base can be difficult and, because the frail arteries are often afflicted with connective tissue abnormalities, direct repair can be particularly challenging. We describe the presentation and surgical management of patients with primary extracranial vertebral artery aneurysms. In this study we performed a retrospective, multi-institutional review of patients with primary aneurysms within the extracranial vertebral artery. Between January 2000 and January 2011, 7 patients, aged 12-56 years, were noted to have 9 primary extracranial vertebral artery aneurysms. All had underlying connective tissue or another hereditary disorder, including Ehler-Danlos syndrome (n=3), Marfan's disease (n=2), neurofibromatosis (n=1), and an unspecified connective tissue abnormality (n=1). Eight of 9 aneurysms were managed operatively, including an attempted bypass that ultimately required vertebral ligation; the contralateral aneurysm on this patient has not been treated. Open interventions included vertebral bypass with vein, external carotid autograft, and vertebral transposition to the internal carotid artery. Special techniques were used for handling the anastomoses in patients with Ehler-Danlos syndrome. Although endovascular exclusion was not performed in isolation, 2 hybrid procedures were performed. There were no instances of perioperative stroke or death. Primary extracranial vertebral artery aneurysms are rare and occur in patients with hereditary disorders. Operative intervention is warranted in symptomatic patients. Exclusion and reconstruction may be performed with open and hybrid techniques with low morbidity and mortality. Copyright © 2013 Elsevier Inc. All rights

Composición de especies leñosas en comunidades invadidas en montañas del centro de Argentina: su relación con factores ambientales locales

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Sebastián R. Zeballos

2014-12-01

Full Text Available En todo el mundo, las invasiones de especies leñosas exóticas están amenazando las funciones ecosistémicas. La dispersión y el subsecuente reemplazo de bosques de especies nativas por comunidades dominadas por exóticas es evidente, particularmente, en proximidad a centros urbanos donde la presión de propágulos de especies exóticas es alta. Sin embargo, existe una falta de información sobre los factores ambientales que subyacen este reemplazo. En este estudio nos propusimos responder las siguientes preguntas: (1 ¿se observa una segregación espacial a escala local entre especies leñosas exóticas y/o nativas dominantes?, y (2 si existe esa segregación, ¿está asociada a variables ambientales? En el 2010 se establecieron 31 parcelas distribuidas en 16 laderas en los bosques Chaqueños de las Sierras de Córdoba, en Argentina central. En cada uno de los sitios de muestreo se relevó la composición y abundancia de todas las especies leñosas con un diámetro a la altura de la base superior a 5cm. Para caracterizar el ambiente en cada una de las parcelas medimos la posición topográfica (pendiente y orientación y algunas propiedades asociadas con la física (densidad aparente y compactación, estructura (profundidad y textura y con la química (pH y el contenido de nutrientes y agua del suelo. A través, de un análisis jerárquico de agrupamiento, se identificaron cinco comunidades de leñosas coexistiendo: (1 Bosques dominados por Ligustrum lucidum, (2 Bosques mixtos dominados por Lithraea molleoides y Celtis australis, (3 Matorrales de Condalia buxifolia, (4 Matorrales de Cotoneaster glaucophyllus, y (5 Pajonales con emergentes de Pyracantha angustifolia. Estas comunidades se asociaron diferencialmente a las variables topográficas y edáficas locales. La segregación ambiental observada sugiere que las especies invasoras tienen una capacidad potencial para colonizar casi todos los ambientes en el área de estudio (variando la

Los déficits del niño: a propósito del encuentro con el nucleo sexual infantil en educación especial

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Dautrey,Maria Antonia Reyes A.

2008-01-01

El niño con déficit es ese infante y su mundo subjetivo frente a dos complejidades, ante la intrincación natural a su condición específica de ser niño y junto a esto, estar sujeto a la alteridad. Dimensiones que interpelan a núcleos constitutivos de encuentro con lo infantil. La Educación Especial en México revela una orientación multidisciplinaria a vocación funcional y hasta antagónica a la que procura el saber psicoanalítico a la vida infantil. Mientras el primero promueve cierta fragmenta...

Brain strokes related to aortic aneurysma – the analysis of three cases

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Pastuszak Żanna

2017-04-01

Full Text Available Brain stroke connected with aortic blood flow disturbances is a rare disease and its incidence is difficult to assume. Nevertheless, 10-50% of patients with aortic dissection may not experience any pain. In case of 18-30% patients with aortic dissection neurological signs are first disease presentation and among them ischemic stroke is the most common. The most popular aortic dissection classification is with use of Stanford system. Type A involves the ascending aorta and type B is occurring distal to the subclavian artery. Aortic dissection risk factors include hypertension, cystic medionecrosis, bicuspid aortic valve and Marfan’s or Ehlers-Danlos syndrome.

The Genetics of Aortopathies in Clinical Cardiology

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Amit Goyal

2017-05-01

Full Text Available Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.

A Case of Congenital Cutis Laxa (Generalized Elastolysis

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Paul Champion

2005-01-01

Full Text Available Cutis laxa (generalized elastolysis is characterized by sagging folds of loose skin on the face and trunk. Although grouped with hyperelastic skin conditions such as Ehlers-Danlos syndrome, cutis laxa shows an almost total lack of skin elasticity. Because it is a generalized state, it may present as an abnormality in the connective tissue of more than one organ system. The authors report a patient who had end-stage renal failure related to heavy chain disease, a recognized association of cutis laxa. Although the patient’s vascular abnormalities were significant, she died of respiratory failure at 41 years of age from cutis laxa-induced emphysema.

Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature

International Nuclear Information System (INIS)

Mentzel, H.-J.; Seidel, J.; Vogt, L.; Vogt, S.; Kaiser, W.A.

1999-01-01

We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga. Distinctive features common to all patients are unusual facial appearance, hypermobility of finger joints, limitation of extension of elbows, chronic diarrhoea and genitourinary abnormalities. In this case report we describe the difficulties encountered in the diagnostic management of patients with EDS-related vascular lesions. (orig.)

Multiple aneurysm of unknown aetiology in childhood: Complications and diagnostic possibilities

International Nuclear Information System (INIS)

Lanfermann, H.; Benz-Bohm, G.; Schaper, J.; Gross-Fengels, W.

1990-01-01

A 6,5-year old boy with already known multiple aneurysm of all major arteries presented with acute abdominal pain. As demonstrated by ultrasound a big aneurysm of the left renal artery thrombosed in the course of three days. As a result, the left kidney developed severe ischaemia. Although computed tomography and scintigraphy were applied, a plan for a definitive therapeutic procedere could be established only by arterial angiography. Both Ehlers-Danlos' syndrome and Kawasaki's syndrome were excluded. There were no facts suggesting an infective aetiology. Four other cases with multiple aneurysms of unknown aetiology in childhood have so far been described in literature. (orig.) [de

Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers–Danlos syndrome: a case report

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Lo TC

2016-09-01

Full Text Available Tony Chung Tung Lo,1,* Stephen Tung Yeung,2,* Sujin Lee,1 Kira Skavinski,3 Solomon Liao,4 1Department of Physical Medicine and Rehabilitation, University of California Irvine, Orange, CA, 2Department of Immunology, University of Connecticut School of Medicine, Farmington, CT, 3Department of Palliative Medicine, University of California San Diego, La Jolla, 4Department of Palliative Medicine, University of California Irvine, Orange, CA, USA *These authors contributed equally to this work Objective: Ehlers–Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers–Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. Case report: A 27-year-old Caucasian female with a history of Ehlers–Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions. After a 7-day course of ketamine intravenous infusion under controlled generalized sedation in the intensive care unit, the patient reported a dramatic reduction in pain levels from 7–8 out of 10 to 0–3 out of 10 on a numeric rating scale and had a significant functional improvement. The patient tolerated a reduction in her pain medication regimen, which originally included opioids, gabapentin, pregabalin, tricyclic antidepressants, and nonsteroidal anti-inflammatory drugs. Conclusion: Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the regression of N-methyl-D-aspartate receptor to a resting state. As such, propagation of nociceptive signal to brain is interrupted allowing for the restoration of

Calidad de vida familiar y bienestar subjetivo en jóvenes con discapacidad intelectual de un establecimiento con educación especial y laboral de la Ciudad de Talca

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YOHANINA ANDREA MUÑOZ VALDÉS

2012-01-01

Full Text Available El estudio que se presenta tuvo como objeti vo identificar la relación entre la Calidad de Vi - da Familiar, Funcionamiento Familiar y Bienestar Subjetivo junto con los factores de la calidad de vida familiar en relación al bienestar subjetivo en jóvenes con discapacidad intelectual, alum nos de un establecimiento de educación especial y laboral de la ciudad de Talca (Chile. La muestra fue dividida en dos grupos: uno de ellos estuvo integrado por 53 alumnos de 16 a 24 años de edad, del citado establecimiento que fueron diagnosticados con discapacidad intelectual: el 52.8% de ellos manifiesta discapacidad intelectual como único predictor de su condición, mientras que el 47.2% restante corresponde a comorbilidad de ésta con otros tipos de discapacidad asociados. Los niveles de discapacidad van desde el leve (37.7%, seguido por el moderado (50.9% y finalmente el severo y el profundo (3.8%. El otro grupo estuvo conformado por 53 apoderados, padres o tutores del mismo establecimiento educacional. Con la finalidad de medir las variables de estudio se administraron cuatro instrumentos: (1 la Escala de Calidad de Vida Familiar (Verdugo, Sainz & Rodríguez, 2009, (2 la versión traducida al español (Bellon, Delgado, Luna del Castillo & Lardelli, 1996 del Family Functioning Questionnaire (Smilkstein, Ashworth & Montano, 1982, (3 la adaptación y validación de Moyano y Ramos Alvarado (2007 de la Satisfaction with the Life Scale (Diener, Emmons, Larden & Griffin y (4 la versión chilena de Moyano-Díaz & Ramos (2007 de la Subjective Happiness Scale (Lyubomirsky & Lepper, 1999. Para realizar el estudio se utilizó una metodología descriptiva y correlacional de corte transversal a fin de establecer relaciones de con comitancia entre las variables. Los resultados principales demostraron una relación significativa entre importancia de la calidad de vida familiar y satisfacción de la calidad de vida familiar (r = .402; p < .01; entre felicidad

Pain in Ehlers-Danlos syndrome: a diagnostic and therapeutic challenge

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Claudia Celletti

2016-03-01

Full Text Available EDS patients shows chronic and frequently debilitating pain described from different authors as multifactorial. Pain has been described as neuropathic in some individuals but probably the persistent nociceptive input due to joint abnormalities probably triggers central sensitization in the dorsal horn neurons and causes widespread pain. The knowledge of the correct type of pain is necessary for the correct management in particular for the rehabilitative approach.

Asociacion de leveduras del genero Cryptococcus con especies de Eucalyptus en Santafe de Bogota Isolation of Cryptococcus sp. associated with Eucalyptus trees in Santafé de Bogota

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A. Duarte

1994-04-01

Full Text Available El aislamiento de Cryptococcus neoformans var. gattii, serotipo B, a partir del medio ambiente se estableció inicialmente en Australia en 1989, en asocio con el Eucalyptus camaldulensis y posteriormente con E. tereticornis. Con estos hallazgos se postuló que desde allí, el hongo se ha podido exportar, por medio de las semillas contaminadas, a otras regiones geográficas, incluyendo Colombia. El objetivo de éste estudio fue identificar las levaduras del género Cryptococcus asociadas con especies de Eucalyptus sp., como primera evaluación en la ecología de C. neoformans var. gattii en nuestro país. Se realizó en Santafé de Bogotá, con una población de 100 árboles ubicados al centro, nororiente, oriente y occidente de la ciudad, recolectando de cada uno de ellos flores, frutos, hojas, cortezas y detritos; el procesamiento de las muestras incluyó extracción del material con una solución salina con antibióticos, siembra en medios selectivos e identificación de las especies con base en las características morfológicas, macro y microscópicas y bioquímicas. Se aislaron 27 cepas de Cryptococcus pertenecientes a 9 especies de Cryptococcus, a partir de 21 árboles ubicados en 5 zonas diferentes de la ciudad. Se aisló C. neoformans y se identificó como C. neoformans var. neoformans serotipo A. Estos datos iniciales son importantes como primera evaluación de la asociación de Cryptococcus sp. con los Eucalyptus en nuestro país.Environmental isolation of Cryptococcus neoformans var. gattii was first made in Australia in 1989 by ELLIS. He established a specific association with the tree species Eucalyptus camaldulensis and E. tereticornis. Based on his findings, ELLIS proposed that the fungus could be exported from Australia to others regions, including Colombia, by means of infected seeds. The purpose of this study was to isolate and identify Cryptococcus sp., associated with Eucalyptus trees; this is the first ecological evaluation

Limnología e ictiofauna de la laguna José María (Córdoba, Argentina, con especial referencia al pejerrey (Odontesthes bonariensis -Valenciennes, 1835-

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M. Mancini

2016-09-01

Full Text Available La región sur de la provincia de Córdoba presenta numerosas lagunas cuyo origen y salinidad varían ampliamente. Muchos de estos ambientes son utilizados para la pesca recreativa del pejerrey (Odontesthes bonariensis. El objetivo del presente trabajo fue caracterizar la calidad del agua y determinar la diversidad del zooplancton y de la ictiofauna con especial referencia a O. bonariensis, de la laguna José María (34º50’17’’S, 63º37’23’’O. Este ambiente se ubica en la cuenca del río Quinto (Córdoba y está comunicado con numerosas lagunas. Se analizaron in situ (n=8, el pH, el oxígeno, la temperatura y transparencia del agua y se tomaron muestras de agua y zooplancton para su análisis en laboratorio. Para la captura de peces se utilizaron redes de enmalle, arrastre, trampa y espineles. La profundidad promedio fue de 1,99 m, con un máximo de 2,20 m. Los registros medios del pH, oxígeno disuelto, temperatura y transparencia fueron 8,51, 9,03 mg/L, 24,3 ºC y 44 cm respectivamente. Por su transparencia, la laguna fue caracterizada como “turbia”. El agua se clasificó como oligohalina (4,09 g/L, sulfatada-sódica y muy dura (484 ppm de CO3Ca. El zooplancton estuvo representado por 3 especies de crustáceos y 7 de rotíferos. Entre los primeros, Metacyclops mendocinus fue el que registró la mayor densidad (162,2 ind/L, mientras que entre los rotíferos fue Brachionus plicatilis con 482,7 ind/L. Se capturaron 12 especies de peces, pertenecientes a 5 órdenes y 9 familias (Shannon = 2,23 bits. El pejerrey fue la especie de mayor abundancia (50,8% y junto al sabalito Cyphocharax voga y la carpa Cyprinus carpio representaron el 85 % del total de biomasa de los peces capturados. Los parámetros poblacionales de O. bonariensis fueron: Peso= 0,0000047081*LEst3,178 (R2=0,99, n=116; longitud total= 5,854+LEst*1,168 (R2= 0,99, n= 117; LEst(t= 489,02 (1-e-0,225(t-0,46 y W(t= 1647,5 (1- e-0,225(t-0,463,177.

Lípidos en el anfípodo Talorchestia margaritae (Amphipoda: Talitridae y su relación con la ecología de la especie

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Sandra López

2010-09-01

Full Text Available T. margaritae cumple un papel importante en la descomposición de restos vegetales y animales en las costas venezolanas. El objetivo fue determinar las diferencias en la composición lipídica entre sexos y talla de la especie. Para esto, especímenes de T. margaritae fueron recolectados en la zona supralitoral de dos playas arenosas: Mangle Quemao y las Mercedes de Paparo. Posteriormente se separaron por talla y sexo determinándoles su peso, densidad, biomasa y perfil lipídico. Todas las categorías presentaron tallas similares entre localidades. Los pesos fueron superiores en los organismos de Mangle Quemao. Los lípidos totales presentaron proporciones similares entre sexos, talla y localidad (3-5%, al igual que los fosfololípidos (20-30%, glicolípidos (<1% y esteroles (4%, exceptuando los triglicéridos (TAG, siendo estos superiores en Mangle Quemao. Esto último pudiendo estar relacionado con la diferencia de pesos entre localidades. Los ácidos grasos más abundantes en ambas localidades fueron 16:0 y 18:1(n-9. Se identificaron otros 9 marcadores con variaciones en su distribución. Con base en los biomarcadores se puede catalogar a T. margaritae como una especie carnívora- generalista, siendo sus poblaciones influenciadas por la disponibilidad de alimento que a su vez, podría inducir diferencias de peso, TAG y biomarcadores.

PROECHIMYS SEMISPINOSUS (RATÓN DE ESPINAS: UNA ESPECIE DE FAUNA SILVESTRE CON POTENCIAL PROMISORIO PARA COMUNIDADES NEGRAS DEL DEPARTAMENTO DEL CHOCÓ, PACÍFICO COLOMBIANO

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Asprilla-Perea Jeferson

2012-12-01

Full Text Available Se valoró el potencial de Proechimys semispinosus (ratón de espinas como especiepromisoria para el departamento del Chocó, según su uso tradicional en comunidadesnegras y a través de ensayos de laboratorio como aporte nutricional de su carne. Laalimentación es el principal uso que los pobladores de estas comunidades le dana la especie, y la trampa de cajón es la técnica de cacería que más se utiliza parasu captura. El sabor de la carne de este roedor goza de buena aceptación por partede sus consumidores, y no se han asociado enfermedades humanas a la ingesta dela misma. A nivel socioeconomico, aunque es una importante fuente de proteinapara las comunidades, su carne no se comercializa con frecuencia. Los ensayosde laboratorio mostraron que su carne posee características bromatológicas (20%proteínas, 78% humedad, 0.40% grasas, 0.97% Cenizas y 3.34 Kcal/100 g similaresa carnes domésticas de origen porcino, vacuno y aviar, así como también a otrassilvestres como la guagua (Cuniculus paca y el cuy (Cavia porcellus. Por lotanto, P. semispinosus es una especie de fauna silvestre con potencial promisoriopara comunidades negras en el departamento del Chocó, ya que es ampliamenteutilizado como alimento en localidades rurales de la región (que es la mayor partedel territorio y su carne cuenta con un importante valor nutricional

Uterine dysfunction in biglycan and decorin deficient mice leads to dystocia during parturition.

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Zhiping Wu

Full Text Available Cesarean birth rates are rising. Uterine dysfunction, the exact mechanism of which is unknown, is a common indication for Cesarean delivery. Biglycan and decorin are two small leucine-rich proteoglycans expressed in the extracellular matrix of reproductive tissues and muscle. Mice deficient in biglycan display a mild muscular dystrophy, and, along with mice deficient in decorin, are models of Ehlers-Danlos Syndrome, a connective tissue anomaly associated with uterine rupture. As a variant of Ehlers-Danlos Syndrome is caused by a genetic mutation resulting in abnormal biglycan and decorin secretion, we hypothesized that biglycan and decorin play a role in uterine function. Thus, we assessed wild-type, biglycan, decorin and double knockout pregnancies for timing of birth and uterine function. Uteri were harvested at embryonic days 12, 15 and 18. Nonpregnant uterine samples of the same genotypes were assessed for tissue failure rate and spontaneous and oxytocin-induced contractility. We discovered that biglycan/decorin mixed double-knockout dams displayed dystocia, were at increased risk of delayed labor onset, and showed increased tissue failure in a predominantly decorin-dependent manner. In vitro spontaneous uterine contractile amplitude and oxytocin-induced contractile force were decreased in all biglycan and decorin knockout genotypes compared to wild-type. Notably, we found no significant compensation between biglycan and decorin using quantitative real time PCR or immunohistochemistry. We conclude that the biglycan/decorin mixed double knockout mouse is a model of dystocia and delayed labor onset. Moreover, decorin is necessary for uterine function in a dose-dependent manner, while biglycan exhibits partial compensatory mechanisms in vivo. Thus, this model is poised for use as a model for testing novel targets for preventive or therapeutic manipulation of uterine dysfunction.

Uterine Dysfunction in Biglycan and Decorin Deficient Mice Leads to Dystocia during Parturition

Science.gov (United States)

Wu, Zhiping; Aron, Abraham W.; Macksoud, Elyse E.; Iozzo, Renato V.; Hai, Chi-Ming; Lechner, Beatrice E.

2012-01-01

Cesarean birth rates are rising. Uterine dysfunction, the exact mechanism of which is unknown, is a common indication for Cesarean delivery. Biglycan and decorin are two small leucine-rich proteoglycans expressed in the extracellular matrix of reproductive tissues and muscle. Mice deficient in biglycan display a mild muscular dystrophy, and, along with mice deficient in decorin, are models of Ehlers-Danlos Syndrome, a connective tissue anomaly associated with uterine rupture. As a variant of Ehlers-Danlos Syndrome is caused by a genetic mutation resulting in abnormal biglycan and decorin secretion, we hypothesized that biglycan and decorin play a role in uterine function. Thus, we assessed wild-type, biglycan, decorin and double knockout pregnancies for timing of birth and uterine function. Uteri were harvested at embryonic days 12, 15 and 18. Nonpregnant uterine samples of the same genotypes were assessed for tissue failure rate and spontaneous and oxytocin-induced contractility. We discovered that biglycan/decorin mixed double-knockout dams displayed dystocia, were at increased risk of delayed labor onset, and showed increased tissue failure in a predominantly decorin-dependent manner. In vitro spontaneous uterine contractile amplitude and oxytocin-induced contractile force were decreased in all biglycan and decorin knockout genotypes compared to wild-type. Notably, we found no significant compensation between biglycan and decorin using quantitative real time PCR or immunohistochemistry. We conclude that the biglycan/decorin mixed double knockout mouse is a model of dystocia and delayed labor onset. Moreover, decorin is necessary for uterine function in a dose-dependent manner, while biglycan exhibits partial compensatory mechanisms in vivo. Thus, this model is poised for use as a model for testing novel targets for preventive or therapeutic manipulation of uterine dysfunction. PMID:22253749

LA DIVERSIDAD DE ESPECIES ÚTILES Y SISTEMAS AGROFORESTALES.

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Hermilio Navarro Garza

2012-01-01

Full Text Available El manejo y uso de biodiversidad sustentan servicios agroecosistémicos multifuncionales: aprovisionamiento de alimentos, forrajes, leña, madera, combustibles, fibra y recarga de acuíferos, entre otros. La pérdida de diversidad biológica y los riesgos crecientes de su deterioro, inherentes frecuentemente a diversas actividades humanas, plantean la necesidad de desarrollar capacidades institucionales y sociales para su restauración y conservación. El objetivo de este trabajo fue identificar y describir la diversidad de árboles y arbustos, sus usos y tipos de sistemas agroforestales. Lo importante es conocer la multiplicidad de usos, como expresión sintética de lógicas funcionales que viabilizan los sistemas agroforestales territoriales. La metodología fue descriptiva, basada en talleres participativos orientados a conocer la diversidad de recursos y usos. Posteriormente, selección de unidades familiares, transectos, entrevistas, colecta y clasificación de ejemplares. Se identificaron 81 especies y 34 familias. La diversidad se amplifica por la multifuncionalidad de usos para 55.6 % de especies: 7.42 %, con cinco tipos de usos; 11.1 % con cuatro tipos; 14.8 %, con tres; y 22.2 % con dos. Tipos de usos: leña, 41 especies; medicinales, 30; elaboración de utensilios, 29; madera, 25; fines alimenticios, 23; forrajeras, 20, y cercos vivos, seis especies. De los sistemas familiares, 91.7 % utilizan sistemas agrosilvícolas, y 41.7 %, silvopastoriles, según diversos propósitos socioeconómicos y combinaciones de usos.

Buddleja filibracteolata (Buddlejaceae, una nueva especie para Costa Rica

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Morales, J. Francisco

2007-12-01

Full Text Available Buddleja filibracteolata (Buddlejaceae, a new species from Costa Rica is described and illustrated and its relationships with B. crotonoides A. Gray are discussed. Buddleja filibracteolata is distinguished by its sessile leaves, amplexicaul leaf blades, and spiciform inflorescence with numerous and conspicuous threadlike bracteoles.Se describe e ilustra Buddleja filibracteolata (Buddlejaceae, una nueva especie de Costa Rica, y se compara con la especie más cercana, B. crotonoides A. Gray. Buddleja filibracteolata se diferencia por sus hojas sesiles, láminas foliares amplexicaules y por sus inflorescencias espiciformes con numerosas y conspicuas brácteas filiformes.

Osteoporosis pseudoglioma syndrome. Update and report on two affected siblings

Energy Technology Data Exchange (ETDEWEB)

Swoboda, W.; Grill, F.

1988-07-01

Two siblings (male, 29 years, and female, 13 years) with the rare autosomal recessive osteoporosis pseudoglioma syndrome are reported in detail. All essential signs and symptoms of the full clinical picture were present and are documented by impressive X-ray pictures. Some aspects of our patients are compared with relevant findings of previous reports. Collagen studies (skin biopsies) failed to reveal any significant disorder of the main collagen types composition. Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos syndrome) suggest, however, that the OPS could be a primary collagen disorder. Genetic counselling and devoted socio-medical care for these handicapped children is presently the only help which can be offered.

Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature

Energy Technology Data Exchange (ETDEWEB)

Mentzel, H.-J. [Institute of Diagnostic and Interventional Radiology, University of Jena (Germany)]|[Institute of Diagnostic and Interventional Radiology, Bachstrasse 18, D-07 740 Jena (Germany); Seidel, J.; Vogt, L. [Department of Paediatrics, University of Jena, Friedrich-Schiller-Universitaet Jena, Jena/Thueringen (Germany); Vogt, S.; Kaiser, W.A. [Institute of Diagnostic and Interventional Radiology, University of Jena (Germany)

1999-01-01

We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga. Distinctive features common to all patients are unusual facial appearance, hypermobility of finger joints, limitation of extension of elbows, chronic diarrhoea and genitourinary abnormalities. In this case report we describe the difficulties encountered in the diagnostic management of patients with EDS-related vascular lesions. (orig.) With 5 figs., 2 tabs., 12 refs.

Especies de Anopheles presentes en el departamento del Putumayo y su infección natural con Plasmodium

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Lorena I. Orjuela

2013-03-01

Full Text Available Introducción. El departamento del Putumayo es una región endémica para malaria, o paludismo, causada principalmente por Plasmodium vivax. Los vectores en esta región incluyen Anopheles darlingi, el cual se ha encontrado solamente en el municipio de Puerto Leguízamo, y recientemente se incriminaron como vectores en Puerto Asís a las especies An. rangeli y An. oswaldoi. Objetivo. El propósito del trabajo fue determinar el papel de An. benarrochi B en la transmisión de malaria en este departamento, ya que se reporta como la especie más abundante que pica a los humanos. Materiales y métodos. Se recolectaron larvas y adultos de Anopheles spp. entre el 2006 y el 2008 en los municipios Puerto Leguízamo y Puerto Asís, y se obtuvieron secuencias del gen ITS-2 y del gen mitocondrial COI para confirmar las determinaciones taxonómicas por morfología. Se practicó la prueba ELISA para establecer la infección por P. vivax y P. falciparum. Resultados. Se identificaron 6.238 individuos correspondientes a 11 especies: An. albitarsis s.l. (1,83 %, An. benarrochi B (72,35 %, An. braziliensis (0,05 %, An. costai (0,06 %, An. darlingi (19,37 %, An. mattogrossensis (0,08 %, An. neomaculipalpus (0,13 %, An. oswaldoi s.l. (0,64 %, An. punctimacula (0,03 %, An. rangeli (5,12 % y An. triannulatus s.l. (0,34 %. Se evaluaron 5.038 adultos por ELISA y 5 se encontraron positivos para P. vivax 210 y VK 247, todos pertenecientes a la especie An. benarrochi B. Conclusión. Los resultados sugieren que An. benarrochi B juega un papel en la transmisión de P. vivax en el departamento de Putumayo, dada su alta atracción por los humanos y su infección natural con Plasmodium spp.   doi: http://dx.doi.org/10.7705/biomedica.v33i1.619

Mujeres ecologistas y urbanas ¿algún vínculo especial con la vida?

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Marta Pascual; Yayo Herrero

2010-01-01

Las mujeres que vivimos en grandes ciudades seguimos estando vinculadas con el mantenimiento de las condiciones esenciales de la supervivencia. Más allá del imprescindible trabajo de cuidados –que nos es impuesto por el sistema patriarcal– estamos muy presentes en espacios públicos relacionados con la vida buena, como son la salud, la educación, las relaciones comunitarias o la alimentación. Nuestras formas de participación asociativa se acercan a la ética del cuidado, la construcción colecti...

Variación diaria de la temperatura corporal en dos especies de lagartos nocturnos (Squamata, Gekkonidae, Homonota con comentarios sobre el uso de refugios

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Cruz, Félix B.

2004-09-01

Full Text Available Poco es lo que se conoce sobre la variación de la temperatura corporal de lagartos nocturnos. Se sabe que algunos lagartos nocturnos termorregulan durante el día. El tamaño corporal y el comportamiento, a su vez, pueden estar relacionados con la inercia térmica. Individuos de Homonota borelli y H. darwini fueron expuestos a tres situaciones, a refugios cálidos (la temperatura nunca fue menor a los 34 ºC, b refugios con una temperatura inferior a los 28-30 ºC, y c se les permitió escoger entre cada una de las opciones anteriores. La temperatura corporal en general y el patrón diario fueron similares en ambas especies siendo más altas durante el día. Cuando los lagartos eligieron los refugios, se observaron diferencias entre las especies, H. borelli usó más los refugios con fuente de calor en tanto que H. darwini usó refugios sin fuente de calor. El tamaño corporal y la distribución geográfica podrían estar relacionados con las diferencias observadas. Very little is known about diel variation in body temperature among nocturnal lizards. Some nocturnal lizards thermoregulate during the day, and body size plus behaviour may be related to the amount of thermal inertia. Lizards of the species Homonota borelli and H. darwini were either exposed to three different situations a a heated retreat site (never below than 34 º C, b a retreat with a temperature lower than 28-30 º C, and c where lizards were allowed to choose between a warm or a cool retreat. Body temperatures and diel pattern were similar for both species. Body temperatures were higher during the day. When lizards choose for retreats, differences were observed, H. darwini preferred cool retreats, whereas H. borelli used the warmer ones. Body size, coloration and geographic distribution may be related to the different patterns observed.

EL ORIGEN DE LAS ESPECIES Y SU RELACION CON EL INICIO DE LA ACTUAL TEORIA DE LA HERENCIA.

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William Usanquén

2009-10-01

Full Text Available En los 200 años del nacimiento de Charles Darwin se ha realizado un sinfín de discusiones y se han publicado cientos de artículos por todo el mundo haciendo referencia a los aportes de “El origen de las especies” en las diferentes ramas de la cultura occidental, Sin embargo, haciendo un mayor énfasis en las obras, como producto madurado de la mente humana, en este año más que ser el aniversario número doscientos del nacimiento de Darwin, es el 200 aniversario de la aparición de una obra fundamental dentro de la teoría biológica: La “Philosophie Zoologique” escrita por Jean-Baptiste Lamarck. Por otra parte, también celebramos los 150 años de la primera edicion de “The Origin of species by means of natural selection, or the preservation of favoured races in the struggle for life”. En la primera parte se mostraran algunos elementos históricos relacionados con la filosofía zoológica y el contexto político de su nacimiento. Posteriormente se revisaran los principales conceptos darwinianos relacionados con la herencia y sus consecuencias en la formación de la disciplina llamada genética, se estudiara el caso especial de Gregor Mendel y finalmente se mostraran las implicaciones actuales en nuestra interpretación de la teoría evolutiva.

Los déficits del niño: a propósito del encuentro con el nucleo sexual infantil en educación especial

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Maria Antonia Reyes A. Dautrey

2008-06-01

Full Text Available El niño con déficit es ese infante y su mundo subjetivo frente a dos complejidades, ante la intrincación natural a su condición específica de ser niño y junto a esto, estar sujeto a la alteridad. Dimensiones que interpelan a núcleos constitutivos de encuentro con lo infantil. La Educación Especial en México revela una orientación multidisciplinaria a vocación funcional y hasta antagónica a la que procura el saber psicoanalítico a la vida infantil. Mientras el primero promueve cierta fragmentación del niño en la cura, el segundo propugna su re-constitución íntima subjetiva como génesis tanto como sujeto.

Trabeculectomy with scleral patch graft for advanced glaucoma in ehler–danlos syndrome

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Dhanya Cheriyath

2016-01-01

Full Text Available We report a case of secondary glaucoma in Ehler–Danlos syndrome (EDS Type VI, which was uncontrolled with maximal medical therapy, and was subsequently managed surgically. EDS comprises a subgroup of heritable connective tissue disorders characterized by generalized joint hypermobility, skin hyperextensibility, and tissue fragility. The surgical challenges in these patients are presence of scleral thinning, vascular fragility, and poor wound healing. Surgical intervention such as trabeculectomy in EDS has not been reported in the literature. With this case report, we share our trials and tribulations in managing this patient with trabeculectomy without antimetabolites, with unexpected modification in the surgery and success.

[Peripheral artery disease in patients younger than 50 years old: Which etiology?].

Science.gov (United States)

Cotard, S; Nouni, A; Jaquinandi, V; Gladu, G; Kaladji, A; Mahé, G

2016-09-01

Peripheral arterial disease (PAD) encompasses disease of all arteries of the body except the coronary arteries. The main etiology whatever the patient's age is atherosclerosis. Different etiologies can induce PAD especially when patients are younger than 50 years old and have no cardiovascular risk factors (smoking, hypertension, diabetes…). PAD that appears before 50 years old can be named juvenile PAD (JPAD) although there is no consensus about the definition. The aim of this work is to present the different etiologies of JPAD according to their hereditary, acquired or mixed origins. The following hereditary causes are addressed: Marfan syndrome, Ehlers-Danlos syndrome, homocystinuria, pseudoxanthoma elasticum, osteogenesis imperfecta "mid-aortic" syndrome. Among the acquired etiologies, inflammatory JPADs without extravascular signs such as atherosclerosis and Buerger's disease, inflammatory JPADs with extravascular signs as Takayasu's disease, Behçet's disease and Cogan's syndrome, JPADs like aortitis, embolic JPADs, iatrogenic JPADs, and mechanical or traumatic JPADs are described. Finally, mixed origins as thrombotic disease and fibromuscular dysplasia are presented. This work will assist clinicians in the diagnosis of JPAD. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

AMENAZAS A LA CONSERVACIÓN DE LAS ESPECIES DE MUSGOS Y LÍQUENES EN COLOMBIA -UNA APROXIMACIÓN INICIAL

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AGUIRRE-C. JAIME

2007-12-01

Full Text Available Las amenazas sobre las poblaciones naturales de musgos y líquenes se evaluaron con baseen particularidades de sus rasgos corológicos, en la calidad del hábitat y en las posibilidadesde transformación y aún de desaparición de porciones considerables del espacio físicoen las regiones naturales de Colombia. En la categorización del riesgo-amenaza, sesiguieron parcialmente los lineamientos metodológicos de la Unión Internacional parala Conservación de la Naturaleza (UICN incluyendo las categorías en peligro crítico(CR, en alto riesgo de extinción (EN, vulnerable (VU y casi amenazado (NT. Losresultados de esta aproximación inicial permitieron calificar bajo algún tipo de amenazaen sus poblaciones naturales a 388 especies de 145 géneros y 46 familias de musgos;Pottiaceae y Pilotrichaceae son las familias que tienen especies amenazadas en la mayoríade las regiones naturales y en los ramales cordilleranos. Según categorías de amenaza, enpeligro crítico (CR se calificaron a 125 especies; en peligro (EN a 21, como vulnerables(VU se calificaron a 173 especies y en la condición casi amenazado (NT a 69 especies.Sphagnaceae, Pilotrichaceae, Orthotrichaceae y Pottiaceae presentaron especies en todaslas categorías de amenaza. En la Amazonia hay 24 especies de musgos con algún tipo deamenazas y la categoría con mayor representación es vulnerable (VU con doce especies;en el Chocó biogeográfico 15 especies sufren algún tipo de amenaza y la categoría conmayor significancia es vulnerable (VU con siete especies. En la región Caribe, en elmacizo montañoso de la Sierra Nevada de Santa Marta 15 especies figuraron comoamenazadas y la condición más frecuente fue en estado crítico (CR con ocho especies.En el sistema montañoso (gradiente cordillerano se calificaron a 285 especies bajo algúntipo de amenaza; Pottiaceae, Pilotrichaceae, Sematophyllaceae e Hypnaceae presentaronespecies amenazadas a lo largo del gradiente altitudinal. En

Morfología de las especies de Hyphessobrycon (Characiformes: Characidae, grupo heterorhabdus, en Colombia

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Carlos A. García-Alzate

2011-06-01

Full Text Available El género Hyphessobrycon incluye dieciocho especies reportadas para Colombia de las cuales 13 son miembros del grupo heterorhabdus; con las mismas, se realizó un análisis morfogeométrico por medio del Método de Cerchas (Box Truss y Láminas Delgadas (TPS. Se usaron 13 hitos homólogos tipo I y tres tipo II. El resultado del análisis cluster, llevado a cabo con cada una de las metodologías indicó que estas especies están representadas en dos grandes grupos: robustas y delgadas. Las deformaciones parciales, los componentes uniformes, no uniformes, Warps principales y Warps parciales describieron cambios de la forma relacionados con la profundidad del cuerpo e involucraron desplazamientos relativos del esqueleto apendicular y de la región cefálica. Todas las especies se caracterizan por presentar crecimiento alométrico excepto Hyphessobrycon mavro con isometría entre los hitos 6-7. Se plantean dos nuevas medidas discriminantes (hocico-supraoccipital y supraoccipital-aleta pélvica para las especies del grupo.

UNA NUEVA ESPECIE DE ACANTHOCLADUS (POLYGALACEAE DE COLOMBIA

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Aymard Gerardo Felipe

2009-06-01

Full Text Available Una nueva especie del género Acanthocladus Klotzsch ex Hassk. se encontró durante la elaboración del tratamiento de la familia Polygalaceae para el Catálogo de las Plantasde Colombia. Se describe e ilustra Acanthocladus colombianus de los valles áridos interandinos ubicados en la Cordillera Oriental, departamento de Cundinamarca, y sediscuten sus relaciones morfológicas con su especie afín. Acanthocladus colombianus es similar a A. guayaquilensis B. Eriksen & Ståhl, sin embargo, difi ere de esta especiepor ser un árbol de 15 m de altura, con las ramitas teretes, las hojas más grandes, rígido-coriáceas, con 6--9 venas laterales, infl orescencias sésiles, y los sépalos externospilosos, 3--4 x 3--4 mm. Esta nueva especie representa el primer registro del géneropara los Andes. The phylogenetic relationship of the species of the genus Auricularia and its allied taxa were investigated using the internal transcribed spacer (ITS sequences of nuclear DNA. A molecular phylogenetic tree constructed using a total of 17 samples representing fi ve species and two outgroups indicates that the species of Auricularia form a monophyletic group. Within the genus Auricularia, A. mesenterica is basal and the remaining Auricularia species form three clades; the fi rst clade consists of A. auricula-judae; the second, of A. fuscosuccinea; and the third, of A. polytricha.

Dos especies nuevas del género Boletus (Boletales: Agaricomycetes) en México

OpenAIRE

García-Jiménez, Jesús; Singer, Rolf; Estrada, Eduardo; Garza-Ocañas, Fortunato; Valenzuela, Ricardo

2013-01-01

Se describen e ilustran 2 especies nuevas para la ciencia del género Boletus encontradas en bosques de Quercus en los estados de Nuevo León y Tamaulipas, México: Boletus paulae y B. singeri. B. paulae pertenece a la secc. Luridi y B. singeri a la secc. Subpruinosi del género Boletus. Ambas especies son consideradas micorrizógenas, la primera con Quercus fusiformis y Q. polymorpha y la segunda con Q. canbyi. Los especímenes están depositados en los Herbarios ITCV y UNL con duplicados en F y EN...

Metodología para la evaluación del potencial insecticida de especies forestales.

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Morales Soto León

2000-06-01

Full Text Available La diversidad florística de Colombia plantea enormes retos de investigación, con miras a una utilización racional e integral de sus recursos forestales. Las plantas con efectos biocidas utilizables en el control de plagas o enfermedades revisten una singular importancia. El objetivo de este trabajo es plantear una metodología de fácil aplicación, bajo costo y rápidos resultados, que permita acopiar la información necesaria sobre el mayor número de especies con potencial en este sentido. La metodología plantea la siguiente secuencia: selección de las especies vegetales de interés, apoyada en los reportes bibliográficos, conocimiento ancestral y observaciones personales; recolección del material en el campo; preparación del extracto total a partir del material seco; pruebas iniciales con Artemia salina Lech. para detectar actividad biológica, a través de la determinación de la LC50 (las especies con LC50 menores de 1000 ppm se consideran promisorias y ameritan procesos posteriores de fraccionamiento químico, bioensayos con las sustancias más promisorias sobre algún organismo de interés particular y determinación final de los compuestos activos en la planta. La metodología descrita fue empleada en la evaluación del potencial de acción biocida de 5 especies arbóreas o arbustivas, Guarea guidonia (L. Sleumer y Trichia hirta L. (Meliaceae, Machaerium moritzianum Benth. (Fabaceae, Swinglea glutinosa Merrill. (Rutaceae y Mammea americana L. (Clusiaceae. Se utilizó para los bioensayos iniciales el microcrustáceo Artemia salina Leach como indicador del potencial biocida con el fin de seleccionar las dos especies más promisorias a partir de las LC50 obtenidas. Con las dos se realizaron los bioensayos para evaluar la acción fagoinhibidora en la hormiga arriera Atta cephalotes (L., y el posible control de Alconeura sp. (Homoptera: Cicadellidae, insecto chupador que afecta la ceiba verde Pseudobombax septenatum (Jacq. Dugand

The osteoporosis pseudoglioma syndrome

International Nuclear Information System (INIS)

Swoboda, W.; Grill, F.

1988-01-01

Two siblings (male, 29 years, and female, 13 years) with the rare autosomal recessive osteoporosis pseudoglioma syndrome are reported in detail. All essential signs and symptoms of the full clinical picture were present and are documented by impressive X-ray pictures. Some aspects of our patients are compared with relevant findings of previous reports. Collagen studies (skin biopsies) failed to reveal any significant disorder of the main collagen types composition. Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos syndrome) suggest, however, that the OPS could be a primary collagen disorder. Genetic counselling and devoted socio-medical care for these handicapped children is presently the only help which can be offered. (orig.)

Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

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Marcelo Cury

2013-01-01

Full Text Available There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS, Ehlers-Danlos syndrome (EDS, Loeys-Dietz syndrome (LDS, familial thoracic aortic aneurysms and dissections (TAAD, bicuspid aortic valve disease (BAV, and autosomal dominant polycystic kidney disease (ADPKD. In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.

Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders

DEFF Research Database (Denmark)

Scheper, Mark C; Juul-Kristensen, Birgit; Rombaut, Lies

2016-01-01

OBJECTIVE: To (1) establish the association of the most common reported symptoms on disability; and (2) study the effectiveness of treatment on disability in patients with Ehlers-Danlos syndrome-hypermobility type (EDS-HT)/hypermobility syndrome (HMS). DATA SOURCES: An electronic search (Medical...... Subject Headings and free-text terms) was conducted in bibliographic databases CENTRAL/MEDLINE. STUDY SELECTION: Comparative, cross-sectional, longitudinal cohort studies and (randomized) controlled trials including patients with HMS/EDS-HT aged ≥17 years were considered for inclusion. A class of symptoms...... collaboration. Z-score transformations were applied to classify the extent of disability in comparison with healthy controls and to ensure comparability between studies. DATA SYNTHESIS: Initially, the electronic search yielded 714 publications, and 21 articles remained for analysis after selection...

SOFTWARE LIBRE: OPORTUNIDADES Y RETOS CON ESPECIAL REFERENCIA A VENEZUELA

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Gladys Rodríguez

2008-11-01

Full Text Available En este trabajo se abordan algunas consideraciones en torno al software libre, sus oportunidades pero también sus desafíos, a la vez que se expone el marco legal de esta figura a partir de su implementación en Venezuela. Se ha empleado una metodología descriptivo-explicativa, partiendo de la revisión bibliográfica conjuntamente con la legislación nacional sobre el tema. Asimismo, se consultó a FUNDACITE ZULIA, a través de la Misión Ciencia, y se concluye que el software libre es una oportunidad para desarrollar programas que atiendan necesidades particulares, y hay quienes consideran que resulta una herramienta especialmente útil para democratizar el acceso a la información en países en desarrollo; sin embargo, planteamos la realidad de una brecha digital entre países en desarrollo y desarrollados

Experiencias de haber crecido con un padre/madre con trastorno mental severo (TMS)

OpenAIRE

Vivanco B, Gabriela; Grandón F, Pamela

2016-01-01

Introducción. La experiencia de vivir con personas que presentan un Trastorno Mental Severo (TMS) es difícil para las familias, en especial para los hijos quienes han sido poco estudiados. El objetivo de la investigación fue conocer cómo la experiencia de haber vivido con un padre o madre con un trastorno mental severo influyó en la infancia, adolescencia y adultez joven de sus hijos e hijas. Método. Se analizan las experiencias de convivencia con un padre/madre con TMS en 10 hijos (6 hombres...

Muhlenbergia monandra (Poaceae: Eragrostideae, nueva especie anual endémica del Perú

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J. José Alegría Olivera

2001-01-01

Full Text Available Se describe e ilustra Muhlenbergia monandra, endémica de Perú. La nueva especie se caracteriza por sus glumas mayores que el antecio, por tener inflorescencias espiciformes y las flores cleistógamas con un estambre. La anatomía foliar se describe e ilustra y se detallan sus caracteres diferenciales. Se incluyen observaciones sobre la epidermis de la lemma y las glumas realizadas con el Microscopio Electrónico de Barrido. Se discute la posición taxonómica de la nueva entidad y las diferencias con las especies anuales relacionadas que habitan en América del Sur

Mujeres ecologistas y urbanas ¿algún vínculo especial con la vida?

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Marta Pascual

2010-05-01

Full Text Available Las mujeres que vivimos en grandes ciudades seguimos estando vinculadas con el mantenimiento de las condiciones esenciales de la supervivencia. Más allá del imprescindible trabajo de cuidados –que nos es impuesto por el sistema patriarcal– estamos muy presentes en espacios públicos relacionados con la vida buena, como son la salud, la educación, las relaciones comunitarias o la alimentación. Nuestras formas de participación asociativa se acercan a la ética del cuidado, la construcción colectiva o la resolución cooperativa de conflictos. Son vínculos y modos de hacer que habrán de valorarse y generalizarse en una sociedad que se pretenda equitativa, antipatriarcal y sostenible.

REVISIÓN DE Ceratocystis sensu stricto CON ESPECIAL REFERENCIA A LOS COMPLEJOS DE LAS ESPECIES C. coerulescens Y C. fimbriata A REVIEW OF Ceratocystis sensu stricto WITH SPECIAL REFERENCE TO THE SPECIES COMPLEXES C. coerulescens AND C. fimbriata

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Mauricio Marín Montoya

2006-06-01

Full Text Available El género Ceratocystis sensu stricto incluye un alto número de hongos fitopatógenos de plantas angiospermas y gimnospermas en diversas regiones del mundo. Entre las principales enfermedades causadas por estos hongos se destacan los marchitamientos vasculares, manchado de maderas, chancros y pudriciones radiculares, de tallos y frutos. Muchas especies producen metabolitos volátiles con olores que atraen una amplia variedad de insectos a los tejidos vegetales infectados, sin embargo, el grado de asociación entre los insectos y las diferentes especies de Ceratocystis es altamente variable, presentandose asociaciones mutualistas tales como aquellas entre C. polonica, C. laricicola y C. rufipenni e insectos escolítidos, así como también relaciones no específicas como en los casos de C. paradoxa, C. fagacearum y C. fimbriata con nitidúlidos, moscas y diversos coleópteros. El alto grado de similitud morfológica encontrada entre estos hongos hace difícil la definición de los límites entre las especies de Ceratocystis. Durante la pasada década, la utilización de estudios filogenéticos basados en comparaciones de DNA ha contribuido sustancialmente a clarificar la taxonomía de este grupo de hongos, así por ejemplo, dichos estudios han permitido concluir que algunas especies de Ceratocystis realmente representan complejos de especies crípticas. Esta revisión tiene como objetivo principal proveer una introducción a los estudios experimentales desarrollados para las especies de Ceratocystis sensu stricto y brevemente discutir aspectos relacionados con los denominados hongos ophiostomatoides.The genus Ceratocystis sensu stricto Ellis & Halst. includes many economically important plant pathogens of both angiosperms and gymnosperms, worldwide. Diseases caused by these fungi include vascular wilts, sap stains on logs and lumber, stem cankers and rots of roots, stems and fruits. Most Ceratocystis species are well adapted to dispersal by

Manejo y evaluación de ectomicorrizas en especies forestales

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A. Carrera-Nieva

2004-01-01

Full Text Available Con el propósito de establecer la capacidad simbiótica de hongos ectomicorrízicos con Pinus patula y Pinus greggii en este trabajo se evaluaron ocho hongos ectomicorrízicos, los cuales se seleccionaron debido a su amplia distribución y comestibilidad. Los porcentajes de colonización micorrízica variaron entre especies de 9 a 66 %. Las plantas inoculadas con Laccaria laccata y Suillus pseudobrevipes presentaron un mayor porcentaje de colonización y desarrollaron un micelio externo abundante. Los valores medios más altos en altura, peso seco y diámetro del tallo se observaron en plantas inoculadas con Lacaria laccata, Suillis pseudobrevipes y Boletus clavipes en comparación con el testigo. La caracterización micromorfológica mostró una asociación típica de gimnospermas con una red de Hartig penetrando varias capas de células corticales.

Estructura floral de dos especies de Trachycarpeae (Arecaceae

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Lorena I. Guevara

2014-09-01

Full Text Available Copernicia y Washingtonia son dos de los géneros de Trachycarpeae para los cuales no ha sido propuesta una clasificación subtribal debido a la carencia de resolución en los estudios filogenéticos. La morfología y anatomía floral dentro de Coryphoideae han sido útiles para la delimitación de taxones y apoyo de relaciones. En este trabajo se presenta una descripción de la estructura morfo-anatómica de las flores de C. tectorum y W. filifera, con la finalidad de explorar caracteres reproductivos que puedan aclarar su ubicación dentro de la subfamilia y contribuir con estudios de biología floral. Se fijaron flores de especimenes cultivados de ambos taxones y frutos en desarrollo de C. tectorum, se realizaron disecciones para las descripciones morfológicas y cortes anatómicos seriados para la obtención de láminas permanentes utilizando técnicas convencionales con parafina. Todos los procedimientos fueron llevados a cabo en el Laboratorio de Morfo-Anatomía, Facultad de Agronomía de la Universidad Central de Venezuela (UCV. Ambas especies tienen flores hermafroditas. Las flores de C. tectorum tienen perianto engrosado y pubescente. Las flores de W. filifera presentan un cáliz irregularmente dentado y corola corto-acuminada. Se reportan células con drusas en el tubo estaminal de C. tectorum. Uno solo de los carpelos de C. tectorum se desarrolla en fruto y se encontró una capa de células con rafidios que podrían formar el endocarpo crustáceo en los frutos maduros. W. filifera presenta pocas capas de células de paredes engrosadas y tejido esclerenquimático en el mesofilo del perianto, gineceo con carpelos fusionados en el ápice del ovario (en su porción ventral, libres en la base y en el ápice del estilo, donde presenta suturas ventrales abiertas. Los pétalos de C. tectorum poseen una hipodermis ventral de células con paredes muy engrosadas, gineceo con carpelos fusionados en el ápice del ovario, libres y adpresos en su

Propiedades mecánicas de bandejas elaboradas con almidón de especies vegetales nativas y fibras de residuos agroindustriales

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Miguel Espina

2016-01-01

Full Text Available El objetivo de este trabajo fue evaluar el efecto de las fibras naturales obtenidas de residuos agroindustriales en la densidad, el gramaje y las propiedades mecánicas de las espumas termoprensadas elaboradas de almidón de especies nativas, como lo son el camote, la oca y la arracacha. El proceso de termoformado se llevó a cabo a una temperatura de 145 °C y una presión de 60 bar. El tiempo de horneado fue de 10 - 15 min dependiendo del contenido de agua en la mezcla. Las bandejas fueron caracterizadas por su densidad, gramaje, ensayo de impacto, ensayos de deflexión, colorimetría y sus valores de dureza y fracturabilidad. Las bandejas elaboradas por termopresión a base de almidón de camote - fibra de bagazo de caña de azúcar al 15%, y de almidón de arracacha- fibra peladilla de espárrago al 30% presentaron mayores valores en resistencia a la flexión frente a las elaboradas con otros tipos de almidones y fibras, incluyendo a pruebas en blanco. De manera general, la dureza de las bandejas se ve favorecida con el increme nto de fibra, sin embargo, la fracturabilidad decrece o no mejora la integridad de la matriz polimérica. Los resultados mostrados en esta investigación permitirán la elaboración de bandejas biodegradables para distintas aplicaciones industriales.

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

Science.gov (United States)

Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

2016-01-01

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. PMID:27656288

MODIFICACIÓN Y CARACTERIZACIÓN DE UNA VERMICULITA COLOMBIANA CON ESPECIES DE TITANIO, ZIRCONIO Y SULFATO

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Willinton Hernández

2008-04-01

Full Text Available El presente trabajo informa sobre  los resultados de la caracterización química, estructural y textural de una vermiculita de origen colombiano modificada con especies simples de Zr y Ti, y el sistema mixto Ti-Zr en relaciones atómicas nominales Zr/(Ti + Zr = 0,1 y 0,5.  Adicionalmente, se evaluó la incidencia de la presencia de sulfato sobre los sistemas mencionados bajo las relaciones nominales sulfato/metal 0, 0,25 y 0,35, incorporando el sulfato ya sea en la solución intercalante, o por impregnación vía húmeda sobre los sólidos modificados y calcinados.  Los resultados indican que cuando la sulfatación se lleva a cabo por intercalación, la naturaleza química de la solución intercalante afecta notoriamente la cantidad de metal incorporado, dependiendo de la relación sulfato/metal empleada.  De otro lado se estableció que, cuando se lleva a cabo la sulfatación por impregnación, las propiedades texturales, estructurales y morfológicas de los sólidos obtenidos se ven fuertemente afectadas y estan acompañadas de una fijación de azufre significativamente mayor que para los sólidos sulfatados por intercalación.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

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Shuji Mizumoto

2015-01-01

Full Text Available Glycosaminoglycans, including chondroitin, dermatan, and heparan sulfate, have various roles in a wide range of biological events such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Their polysaccharides covalently attach to the serine residues on specific core proteins through the common linker region tetrasaccharide, -xylose-galactose-galactose-glucuronic acid, which is produced through the stepwise addition of respective monosaccharides by four distinct glycosyltransferases. Mutations in the human genes encoding the glycosyltransferases responsible for the biosynthesis of the linker region tetrasaccharide cause a number of genetic disorders, called glycosaminoglycan linkeropathies, including Desbuquois dysplasia type 2, spondyloepimetaphyseal dysplasia, Ehlers-Danlos syndrome, and Larsen syndrome. This review focused on recent studies on genetic diseases caused by defects in the biosynthesis of the common linker region tetrasaccharide.

MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME.

Science.gov (United States)

Chiu, Bing Q; Tsui, Edmund; Hussnain, Syed Amal; Barbazetto, Irene A; Smith, R Theodore

2018-02-13

To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.

Direct carotid cavernous fistula after submucous resection of the nasal septum.

Science.gov (United States)

Bizri, A R; al-Ajam, M; Zaytoun, G; al-Kutoubi, A

2000-01-01

A carotid cavernous fistula (CCF) is an abnormal arteriovenous anastomosis between the carotid artery and the cavernous sinus. Etiologies of this condition reported in the literature so far include facial trauma, rupture of an intracavernous aneurysm of the carotid artery, Ehler-Danlos syndrome and fibromuscular dysplasia of the cerebral arteries. Such fistulae were reported as complications of rhinoplasty, transsphenoidal surgery, embolization of cavernous sinus meningioma, and rhinocerebral mucormycosis. CCF may also occur spontaneously in children or as a congenital malformation. However, to our knowledge, submucous resection of the nasal septum has not been reported before to cause direct carotid-cavernous fistula. CT and angiographic findings are presented and a review of the literature for reported causes of CCF is made as well as a brief discussion of the possible pathophysiology.

The Style Evolution of Glasses: Acknowledging Well-being for Wearable Medical Device

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Lydia Royeen

2015-10-01

Full Text Available The focus of Peta Bush’s work is to create wearable medical devices that address all qualities of the individual, including physical, mental, emotional, and psychosocial aspects. Peta is completing a practice-based research PhD titled “Therapeutic jewelry: The craft of people-centric devices for wellbeing.” Her passion for creating wearable medical devices that are multi-dimensional stems from her personal experiences, as she has Ehlers-Danlos syndrome. In addition, she uses her knowledge of well-being and the biopsychosocial model when creating her wearable medical devices. Peta currently uses technology, such as 3D printing, as one method to fabricate her collection. Her aspirations are for this concept of wearable medical devices to become mainstream, similar to glasses, and to remove the stigma associated with wearable medical devices.

La predicción del Sitio Forestal para Especies que se Plantan en el Trópico

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Del Valle Arango Jorge L.

1993-09-01

Full Text Available El artículo revisa la literatura relativa a los métodos de predicción del sitio forestal con énfasis en las especies tropicales y, en especial, aquellas que se han plantado en Colombia. Luego de definir los conceptos de sitio, índice de sitio y de calidad de sitio, se describen con ejemplos las siguientes cinco aproximaciones para la predicción del sitio: actores climáticos, empleo de la vegetación indicadora, correlación con la fisiografía, correlación con características del suelo y bioensayos.

Una breve descripción de la vegetación, con especial énfasis en las pioneras intermedias de los bosques secos de la Jagua, en la cuenca alta del Rio Magdalena en el Huila

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William Gerardo Vargas

2015-01-01

Full Text Available Se revisó la información existente sobre la flora de los bosques secos del sur del departamento del Huila, con especial interés en la de La Jagua y sus alrededores con el fin de identificar especies pioneras intermedias que puedan apoyar procesos de restauración ecológica y conservación de la biodiversidad. Para los bosques secos del departamento se identificaron 203 especies pioneras intermedias distribuidas en 123 géneros y 45 familias botánicas, mientras que para La Jagua 153 especies agrupadas en 109 géneros y 42 familias, entre las que sobresalen Fabaceae,  Rubiaceae, Malvaceae, Moraceae y Anacardiaceae. Se proponen 85 especies consideradas claves para procesos de conservación, la restauración de los ecosistemas secos de la región dirigida a la generación de hábitat y de conectividad, la producción de recursos para la fauna, así como la producción de leña y madera para las comunidades dentro de un modelo de herramientas de manejo del paisaje.

Drymonia squamosa (Gesneriaceae, una especie nueva del Parque Nacional Natural Las Orquídeas (Antioquia, Colombia

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LAURA CLAVIJO

2015-01-01

Full Text Available Se describe e ilustra una especie nueva de Drymonia (Gesneriaceae de la Cordillera Occidental de los Andes colombianos, departamento de Antioquia. La nueva especie, Drymonia squamosa, se distingue por tener los pecíolos cubiertos con escamas, el envés de la lámina foliar glabrescente y punteado, el cáliz con la base engrosada y los lóbulos lanceolados, la corola vilosa a lanosa, y el estilo con tricomas glandulares. Adicionalmente, D. squamosa es categorizada como vulnerable (VU siguiendo los criterios de la IUCN.

Especies forrajeras utilizadas bajo silvo-pastoreo en el centro de Chiapas

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R. Pinto

2004-01-01

Full Text Available Con el objetivo de conocer los usos, la composición química y degradabilidad ruminal de especies arbóreas y herbáceas del trópico mexicano, se desarrolló el presente trabajo en el Valle Central del estado de Chiapas, México. A través de entrevistas con productores se identificaron 14 leñosas y 7 herbáceas con mayor mención forrajera, así como sus múltiples usos. De éstas, el contenido de PC varió de medio a alto (5.8-28.7%, sobresaliendo las especies herbáceas, el contenido de MO fue muy similar entre especies (79.1 96.6% y los niveles más altos de FDN y FDA se encontraron en los frutos y las mayores concentraciones de FT en los follajes arbóreos. En términos de degradabilidad a 24 h de la PC, MS y MO, sobresalieron el follaje de G. americana y el fruto de E. cyclocarpum (P<0.05, en tanto, el follaje y fruto de A. pennatula, y el follaje de B. ungulata y M. hondurana presentaron los valores más bajos (P<0.05 de todas las especies en evaluación. Los parámetros de degradabilidad ruminal (a, b, a+b, c de los frutos fueron menores en comparación a los follajes. Sobresalió el fruto de E. cyclocarpum por su alto potencial de degradabilidad. Para el caso del follaje, excepto el género Acacia, todas las especies presentaron valores altos de degradabilidad ruminal de la MS

EL POLEN DE LAS ESPECIES ARGENTINAS DE TROPAEOLUM (TROPAEOLACEAE

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Silvina Garralla

2011-01-01

Full Text Available En este trabajo se analizan las características polínicas de Tropaeolum argentinum, T. atrocapillare, T. capillare, T. incisum, T. meyeri, T. patagonicum, T. pentaphyllum, T. polyphyllum, T. porifolium, T. trialata, T. tuberosum subsp. silvestre, T. warmingianum subesp. warmingianum y T. willinkii con la finalidad de aportar datos para la delimitación de estas especies. Las observaciones, conteos y mediciones de los granos de polen se realizaron con microscopio óptico y microscopio electrónico de barrido. El estudio de los taxones pone de manifiesto que se trata de un género estenopalínico. Los granos son isopolares, bilaterales, radiosimétricos o bisimétricos, pequeños a medianos, con ámbito triangular a subcircular, ánguloaperturados, dicolporados, tricolporados o tetracolporados. La exina es tectada, perforada, con un retículo supratectal heterobrocado, angustimurado. Se discuten diferencias palinológicas entre los taxones y se brinda una clave palinológica para su diferenciación.

Una aproximación al proceso de domesticación de Vegetales con referencia especial a los frutales En la amazonia colombiana

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Quevedo Enrique

1994-12-01

Full Text Available

Se analiza la importancia de la Amazonía como reservaría de recursos genéticos vegetales, particularmente desde el punto de vista agroforestal. Se enumeran especies nativas potencialmente útiles como frutas, nueces, fuentes de aceite o de madera, con base en el conocimiento generado por los indígenas.

Esencialismo, valores epistémicos y conceptos de especie

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Julio Torres

2011-07-01

Full Text Available En el actual contexto científico que forma la concepción darwiniana de las especies aún persisten las interpretaciones esencialistas de los conceptos de especie. ¿Se trata aquí sólo de la ignorancia de la teoría biológica? O, más bien, ¿es posible comprender la persistencia de los enfoques esencialistas sobre la base de la potencialidad de estos enfoques para explicar el logro de ciertos valores epistémicos de los actuales conceptos de especie? Me propongo responder afirmativamente a esta última pregunta y también evaluar en qué medida las intuiciones esencialistas coinciden con las estrategias explicativas de los proponentes de los modernos conceptos de especie.

Especies de dinoflagelados del género Gambierdiscus (Dinophyceae del Mar Caribe mexicano

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D.U Hernández-Becerril

2004-09-01

Full Text Available Algunos dinoflagelados de hábitos bénticos están relacionados con la ciguatera, por consumo de pescado, en áreas tropicales. En el Caribe mexicano la ciguatera es un padecimiento relativamente común, sin embargo solo existe un trabajo sobre este tema y muy pocos antecedentes publicados sobre fitoplancton y microalgas bénticas. En este estudio se analizó material recolectado en varios puntos a lo largo de las costas del Estado de Quintana Roo, tanto con red de fitoplancton (54 mm, como de sedimento y epífitas de plantas macroscópicas, para estudiar los dinoflagelados tóxicos y asociados. Se registra la presencia de tres especies del género Gambierdiscus, asociadas con la producción de toxinas causantes de la ciguatera: G. belizeanus, G. toxicus y G. yasumotoi, todas distribuídas en áreas costeras poco profundas, incluyendo lagunas costeras. Las especies han sido estudiadas con microscopía de luz y electrónica de barrido. Para el reconocimiento de las especies se emplearon los caracteres morfológicos usuales, pero eventualmente se pueden usar caracteres fisiológicos, ecológicos y moleculares. La llamada "comunidad ciguatoxigénica" también está formada por especies de los géneros Prorocentrum, Ostreopsis y Coolia, cuyo estudio florístico y taxonómico se recomienda ampliamente, así como investigaciones complementarias de aspectos biológicos, ecológicos, fisiológicos y epidemiológicos de esta comunidad

Clinical Heterogeneity in Patients with the Hypermobility Type of Ehlers-Danlos Syndrome

Science.gov (United States)

De Wandele, Inge; Rombaut, Lies; Malfait, Fransiska; De Backer, Tine; De Paepe, Anne; Calders, Patrick

2013-01-01

EDS-HT is a connective tissue disorder characterized by large inter-individual differences in the clinical presentation, complicating diagnosis and treatment. We aim to describe the clinical heterogeneity and to investigate whether differences in the symptom profile are also reflected as disparity in functional impairment and pain experience. In…

Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome

DEFF Research Database (Denmark)

Nygaard, Rie H; Jensen, Jacob K; Voermans, Nicol C

2017-01-01

skeletal muscle biopsies in patients with classic EDS (cEDS, n=5 (Denmark)+ 8 (The Netherlands)) and vascular EDS (vEDS, n=3) and analyzed muscle fiber morphology and content (Western blotting and muscle fiber type/area distributions) and muscle mRNA expression and protein synthesis rate (RT-PCR and stable...... isotope technique). RESULTS: The cEDS patients did not differ from healthy controls (n = 7-11) with regard to muscle fiber type/area, myosin/α-actin ratio, muscle protein synthesis rate or mRNA expression. In contrast, the vEDS patients demonstrated higher expression of matrix proteins compared to c......EDS patients (fibronectin and MMP-2). DISCUSSION: The cEDS patients had surprisingly normal muscle morphology and protein synthesis, whereas vEDS patients demonstrated higher mRNA expression for extracellular matrix remodeling in skeletal musculature compared to cEDS patients....

Algunas especies colombianas de Pleurothallis

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Schneider Martín

1958-09-01

Full Text Available Uno de los géneros más interesantes entre las orquídeas americanas es Pleurothallis. Su área de extensión alcanza desde el sur de EE. UU. (Florida: 1 especie y las Antillas hasta Bolivia y la Argentina. Dentro de esta área inmensa, el género ha desarrollado naturalmente un número altísimo de formas distintas, y con aproximadamente mil especies figura entre los géneros más ricos. Del hecho de que se encuentran desde el nivel del mar hasta las cumbres de las montañas y los limites de los páramos resulta que es un género muy polimorfo.  Se deja, sin embargo, subdividir en varias grandes secciones naturales.  La literatura acerca de Pleurothallis es muy abundante, pero falta todavía una amplia monografía que reúna los datos dispersos.

Gametofitos de nueve especies de Callipteris y su comparación con otros géneros de la familia Woodsiaceae

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Leticia Pacheco

2003-03-01

Full Text Available En este estudio se presenta el desarrollo de los gametofitos de nueve especies de Callipteris Bory (Woodsia-ceae, cuatro especies de Diplazium, el género del cual fue segregado Callipteris y una especie de Dryoathyrium. Los resultados obtenidos se comparan, con los de otros géneros de Woodsiaceae. La principal diferencia encontrada entre Callipteris y los otros géneros de Woodsiaceae fue que la dehiscencia anteridial de Callipteris se presenta por una célula opercular, mientras que la dehiscencia anteridial de Diplazium y otras Woodsiaceae es por un poro lateral o apical. Se sospecha la presencia de anteridiógenos, por la presencia de pequeños gametofitos amerísticos y an-teridiados en los cultivos. En Callipteris la germinación es del tipo Vittaria, y el desarrollo protálico es del tipo Adiantum, para otros géneros de la familia, el desarrollo protálico puede ser también de tipo amorfo o Aspidium.The development of the prothallia in nine species of Callipteris Bory (Woodsiaceae, four species of Diplazium, the genus from which Callipteris has been segregated, and one species of Dryoathyrium are studied in this paper. The data obtained are compared with the development of the prothallia of several other genera of Woodsiaceae. The main difference between Callipteris and the other genera of Woodsiaceae was that the antheridia dehiscence of Callipteris, occurs by an opercular cell and whereas some of Diplazium and other Woodsiaceae antheridia dehiscence occurs by a lateral or apical pore. The presence of antheridiogens is suspected on the basis of small ameristic male gametophytes in the cultures. Spore germination in Callipteris is Vittaria-type, prothallial development corresponds to Adiantum -type.

Variación temporal de especies de Lutzomyia (Diptera: Psychodidae en el área urbana de Sincelejo (Colombia

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Luz Fernanda Lambraño Cruz

2012-01-01

Full Text Available Objetivos: Determinar la diversidad y la variación temporal de especies de Lutzomyia en el área urbana de Sincelejo (Colombia. Materiales y métodos: Se seleccionaron siete barrios de Sincelejo, capital del departamento de Sucre. Durante un año se realizaron muestreos quincenales y mensuales con trampas de luz tipo CDC y Shannon respectivamente, las cuales fueron instaladas en ambientes peridomiciliarios. Se analizó la diversidad de especies, así como la relación de la abundancia con variables climáticas. Resultados: Se colectaron en total 2064 ejemplares, correspondientes a siete especies de Lutzomyia: Lutzomyia evansi, Lutzomyia gomezi, Lutzomyia dubitans, Lutzomyia cayennensis cayennensis, Lutzomyia rangeliana, Lutzomyia panamensis y Lutzomyia trinidadensis. Lutzomyia evansi fue la más abundante, con el 79,7% del total de los flebotomíneos colectados, seguida por Lutzomyia gomezi, que representó el 10,5%. La mayor abundancia de Lutzomyia evansi se registró en mayo, septiembre y diciembre. El análisis estadístico mostró una correlación positiva y significativa entre la abundancia de esta especie y la precipitación acumulada el mes anterior a la colecta. Conclusión: Lutzomyia evansi es la especie más abundante en Sincelejo, y su abundancia está directamente relacionada con las lluvias con un retraso de un mes.

Deteccion De Los Diferentes Grados De Motricidad A Traves Del Metodo De Mabc Para Encontrar Las Estrategias Metodologicas De Enseñanza A Los Niños Con Sindrome De Down, En La Escuela Especial “Un Nuevo Amanecer”, De La Ciudad De Babahoyo

OpenAIRE

Galarza Acosta, Fresia

2015-01-01

Detectar dificultades en la aplicación de estrategias metodológicas de enseñanza mediante la evaluación del desarrollo de habilidades motrices y destrezas cognitivas que predominan en los niños con síndrome de Down que acuden a la escuela especial Un Nuevo Amanecer mediante la comparación con los parámetros del test de Mabc para conocer cuáles son las estrategias más adecuadas de enseñanza. Se hacen esfuerzos por incluir en la sociedad a las personas con síndrome de Down, especial atenció...

Dos especies nuevas de calathea (Marantaceae de la Amozonia Colombiana

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Suárez Stella

2000-07-01

Full Text Available Two new species of Marantaceae from Amazonian Colombia are described and illustrated: Calathea caquetensis and C. compacta. C. caquetensis is apparently related to C. attenuata and C. silvosa. C. compacta seems to be related to C. ecuminata, C. pearcei and C. schunkei.Se describen e ilustran dos especies nuevas de Marantaceae de la Amazonia colombiana: Calathea caquetensís y C. compacta. C. caquetensis está aparentemente relacionada con C. attenuata y C. silvosa. C compacta parece estar relacionada con C. acuminata, C. pearcei y C. schunkei.

NUEVAS ESPECIES COLOMBIANAS DE PHYLLOPHAGA HARRIS (COLEOPTERA: MELOLONTHIDAE: MELOLONTHINAE

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MIGUEL ÁNGEL MORÓN

2014-06-01

Full Text Available Se describen tres Phyllophaga (s. str.: Phyllophaga velezangeli, nueva especie del grupo “schizorhina” recolectada en una localidad montañosa del departamento de Boyacá, ubicada a 1 989 m de altitud; y P. citarae, nueva especie del grupo “rorulenta” que habita en el bosque tropical perennifolio establecido a 70 m snm en Tutunendo, departamento de Chocó y P. densata chocoana, nueva subespecie del grupo “rugipennis” localizada en bosques tropicales perennifolios de Chocó y Risaralda. Phyllophaga densata densata (Moser se registra por primera ocasión para Colombia. Se incluyen ilustraciones de los caracteres diagnósticos, habitus y comentarios sobre sus diferencias con otras especies de los grupos citados.

Buddleja filibracteolata (Buddlejaceae), una nueva especie para Costa Rica

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Morales, J. Francisco; González, José

2007-01-01

Buddleja filibracteolata (Buddlejaceae), a new species from Costa Rica is described and illustrated and its relationships with B. crotonoides A. Gray are discussed. Buddleja filibracteolata is distinguished by its sessile leaves, amplexicaul leaf blades, and spiciform inflorescence with numerous and conspicuous threadlike bracteoles.Se describe e ilustra Buddleja filibracteolata (Buddlejaceae), una nueva especie de Costa Rica, y se compara con la especie más cercana, B. crotonoides A. Gray. B...

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

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Shuji Mizumoto

2014-01-01

Full Text Available Glycosaminoglycans (GAGs are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs.

Pectus excavatum and heritable disorders of the connective tissue

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Francesca Tocchioni

2013-09-01

Full Text Available Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

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G. T. Yakhyaeva

2016-01-01

Full Text Available Frequent bone fractures in infancy require the elimination of a large number (> 100 of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted in 18 patients with clinical symptoms of connective tissue disorders. 10 (56% patients had mutations in the genes encoding type I collagen chains, leading to the development of osteogenesis imperfecta, 5 (28% — mutations in IV and V type collagen genes that are responsible for the development of Ehlers-Danlos syndrome. 3 (17% patients had mutations in the gene encoding fibrillin-1 protein, deficiency of which is manifested by Marfan syndrome. However, the correlation between patient's phenotype and discovered mutations in the investigated gene is established not in all cases.

Factitious aortic dissection leading to thoracotomy in a 20-year-old man.

Science.gov (United States)

Chambers, Elise; Yager, Joel; Apfeldorf, William; Camps-Romero, Eduardo

2007-01-01

A 20-year-old man presented to an emergency department with dramatic, sudden-onset, tearing chest pain. He also claimed to have been previously diagnosed with Ehler-Danlos syndrome and a previous Type I aortic dissection (intimal tear of ascending aorta), rapidly increasing his treating physician's suspicion of an emergent aortic dissection. The patient was quickly transferred to a large university hospital, where he underwent a median sternotomy and thoracotomy, with no aortic pathology found on operation and biopsy. After the patient's postoperative recovery, he was treated at a mental health facility, where he remained ambivalent about his psychiatric condition and did not respond well to treatment. This case report describes a unique case of factitious disorder that led to a serious operative intervention and subsequent psychiatric care and assesses factors that might have contributed to his hospital course.

Anatomía ecológica de algunas especies del género Paspalum (Poaceae, Panicoideae, Paniceae

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Sandra S. Aliscioni

2000-01-01

Full Text Available Aliscioni, S. S. 2000. Anatomía ecológica de algunas especies del género Paspalum(Poaceae, Panicoideae, Paniceae. Darwiniana 38(3-4: 187-207.El género Paspalum L. presenta un elevado número de especies, con una amplia variabilidadmorfológica y una extensa distribución geográfica. Sus especies crecen en hábitats sumamente diversos,desde ambientes muy húmedos o acuáticos, a lugares secos de suelos arcillosos o arenosos, muchas vecessalinos. Dada la diversidad de ambientes en los que puede hallarse Paspalum, se estudiaron lascaracterísticas anatómico-foliares presentes en el género con la finalidad de interpretar diferentesestrategias adaptativas en distintas especies. Se presenta una descripción general de la anatomía foliar delgénero y se discuten ciertos caracteres anatómicos, interpretando su posible relación con las condicionesdel hábitat

Estudios en Solanaceae – XXIII sobre dos especies nuevas de cuatresia Estudios en Solanaceae – XXIII sobre dos especies nuevas de Cuatresia

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Hunziker Armando T.

1986-12-01

Full Text Available Two new Colombian species of Cuatre sia (Solanaceae, are clescribed and illustrated. Con motivo de la preparación de una sinopsis preliminar sobre Cuatresia A. T. Hunz., ha quedado en evidencia una serie de especies indescritas, 2 de las cuales presento seguidamente.  Es esta una buena oportunidad para llamar la atención de los colegas sobre este difícil y olvidado género de Solanáceas.  En su gran mayoría, las dificultades se originan en los materiales disponibles, que son escasos y fragmentarios; varias especies se conocen por una única colección (a veces con apenas 1 o 2 flores, en la mayoría se ignora cómo son el fruto, la semilla y el embrión, y en otros casos, las observaciones sobre el color de la corola son contradictorias, o imprecisas, o faltan por completo. Por todo ello, quisiera incitar a quienes tienen el privilegio de acceder a las regiones donde crecen estas plantas, a que extremen los recaudos para que las colecciones de Cuatresia mejoren en calidad y cantidad.

La percepción sobre la inclusión del alumnado con discapacidad auditiva en la Educación Secundaria, Educación Superior y enseñanzas de régimen especial en Gran Canaria

OpenAIRE

Mesa Suárez, José Luis

2014-01-01

Programa de doctorado: Formación del Profesorado. [ES] El objetivo principal de esta tesis doctoral es aportar resultados que permitan un mejor conocimiento de la situación de los estudiantes con discapacidad auditiva en la Educación Secundaria Obligatoria, Ciclos Formativos, Estudios Universitarios y Enseñanzas de Régimen Especial en Gran Canaria. Teniendo en cuenta el incremento de estudiantes con sordera o hipoacusia, que esperan ingresar en estas enseñanzas, se plantea la necesidad de ...

Surgical pitfalls in patients with Ehlers–Danlos type IV: A case of spontaneous sigmoid perforation in a 17-year-old male

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Kai Lyn Ng

2011-07-01

Full Text Available Ehlers–Danlos syndrome (EDS is a group of well described connective tissue disorders in which collagen production is impaired. The surgical management of affected individuals remains challenging, with no general consensus. We report a case of spontaneous sigmoid perforation in a 17-year-old Eurasian male, in whom we subsequently established the diagnosis of EDS type IV (EDS-IV. We review the literature to discuss the clinical features and diagnosis, and the recommended therapeutic management.

Distinción de especies del género Persea mediante RAPD e ISSR de ADN

OpenAIRE

Reyes-Alemán, Juan Carlos; Valadez-Moctezuma, Ernestina; Simuta-Velázco, Lisandro; Barrientos-Priego, Alejandro Facundo; Gallegos-Vázquez, Clemente

2013-01-01

Con la finalidad de establecer bases para diferenciar parte de la diversidad genética de Persea y en especial del subgénero Persea resguardado en la colección nacional de germoplasma de aguacate de México, se estudiaron ocho especies (P. americana, P. steyermarkii, P. schiedeana, P. lingue, P. nubigena, P. floccosa, P. cinerascens y P. indica) con marcadores moleculares mediante las técnicas de RAPD e ISSR, donde los productos de PCR fueron separados en geles de acrilamida. Las huellas de ADN...

CARIOTIPOS DE ESPECIES SUDAMERICANAS DE SERJANIA (SAPINDACEAE, PAULLINIEAE

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Viviana G. Solis Neffa

1997-01-01

Full Text Available Se han estudiado los cromosomas mitóticos de quince especies de Serjania Mill., con 2n = 24, de América del Sur. Los resultados incluyen los primeros recuentos de S. paludosa Cambess. y S. setigera Radlk. Fueron analizados los cariotipos de todas las especies, trece de ellos se describen por primera vez. Aunque no ha habido ningún cambio en el número de cromosomas durante la evolución de Serjania y los cariotipos muestran un moderado grado de asimetría, hay una considerable variabilidad en tamaño de los cromosomas entre las especies. El análisis comparativo de las especies de la misma sección muestra diferencias en la longitud de los cromosomas y la constitución cariotípica. Esto fue también evidente en las dos accesiones de S. laruotteana Cambess. y S. meridionalis Cambess. La variabilidad cariotípica observada en Serjania sería el resultado de reordenamientos cromosómicos estructurales y/o la adición de material genético.

Ácaros asociados a dos especies de Odontotaenius(Coleóptera: Passalidae) en México

OpenAIRE

Barrios-Torres, Pilar Liliana; Villegas-Guzmán, Gabriel A.

2015-01-01

Resumen:Los ácaros se relacionan con pasálidos, estableciendo una asociación temporal para transportarse (foresia). Se conocen más de 200 especies de ácaros forontes de pasálidos. El objetivo del estudio fue conocer la diversidad de ácaros asociados a dos especies de Odontotaenius,así como determinar sus sitios de fijación. Se recolectaron pasálidos de troncos en descomposición en seis estados de México. Se encontraron 80 pasálidos con ácaros (64 de O. zodiacusy 16 de O. striatopunctatus),en ...

Elaboración de pasta de pescado a partir de especies magras.

OpenAIRE

Echevarría Mesia, Christian Giacomo

2015-01-01

La presente Memoria Descriptiva tiene como objetivo dar a conocer el proceso de elaboración de Pasta o Surimi de pescado a partir de la especies magras de nuestra región entre las que se consideró a las especies Cichla monoculus (Tucunaré) (Spix, 1829) y Brachyplatystoma tigrinum (Zúngaro Tigre) (IIAP, 2009). Estas peces son especies magras nativos de la Amazonia, con alto potencial para la diversificación de la piscicultura Nacional. La cuenca amazónica no sólo posee gran abundancia de cuerp...

Uso local y potencial de las especies arbóreas en camarón de Tejeda, Veracruz

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E. Couttolenc-Brenis

2005-01-01

Full Text Available Los sistemas agroforestales son una alternativa para mejorar los sistemas agrícolas y pecuarios. Se requiere identificar las especies arbóreas con potencial para ser incorporadas en los sistemas de producción agropecuarios. En Camarón de Tejeda, Veracruz, la crisis de la agricultura basada en el cultivo de la caña y la poca rentabilidad de la actividad ganadera, obliga a buscar opciones de producción diversificadas y de bajo impacto ambiental. En este trabajo se elaboró un catálogo de especies arbóreas nativas presentes en las áreas productivas y en la vegetación natural con el fin de identificar los usos que la gente de la región les asigna. Se realizaron recorridos en la zona con el fin de inventariar las especies, colectarlas para su identificación y obtener información sobre los usos locales. Se realizó una consulta bibliográfica para documentar los usos potenciales de las especies inventariadas. Se generó un listado de 38 especies, de las cuales a 21 de ellas se reporta al menos un uso local. Los resultados reflejan el alto potencial de especies arbóreas útiles en el área para ser incorporadas a los sistemas de producción agroforestal.

SELECCIÓN DE PREDICTORES AMBIENTALES PARA EL MODELADO DE LA DISTRIBUCIÓN DE ESPECIES EN MAXENT

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Gustavo Cruz-Cárdenas

2014-01-01

Full Text Available A ntes de realizar el modelado de la distribución potencial de una especie, se recomienda ha - cer una preselección de covariables pues la redundancia o variables irrelevantes pueden in - ducir sesgos en la mayoría de los modelos. En este estudio, se propuso un método automati - zado para la selección a priori de covariables utilizadas en el modelado. Se emplearon cinco especies típicas de la flora mexicana ( Catopheria chiapensis, Liquidambar styraciflua, Quercus martinezii, Telanthopora grandifolia y Viburnum acutifolium y 56 covariables ambientales. Se generaron matrices de presencia-ausencia para cada especie y se analizaron empleando regresión logística; el modelo resul - tante de cada especie se evaluó mediante un remuestreo bootstrap. La distribución de las cinco especies se modeló usando el algoritmo de máxima entropía y con el empleo de tres conjuntos de covariables ambientales. La precisión de los modelos generados se evaluó con intervalos de confianza de cada curva característica operativa del receptor (COR. Los intervalos de confianza de las curvas COR resultantes no mostraron diferencia significativa ( P < 0.05 entre los tres modelos predictivos generados; sin em - bargo, el modelo más parsimonioso se obtuvo con el método propuesto.

Jatropha curcas L., una especie arbórea con potencial energético en Cuba Jatropha curcas L., a tree species with energetic potential in Cuba

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Odalys C Toral

2008-09-01

Full Text Available Jatropha curcas es una especie multipropósito, con innumerables atributos y un potencial considerable. Es una planta de origen tropical, de la familia Euphorbiaceae, que puede crecer tanto en zonas de altas como de bajas precipitaciones anuales. Es altamente resistente a la sequía y se puede cultivar en áreas marginales, por lo que resulta excepcional para la recuperación de tierras degradadas, sin competir con la producción de cultivos para la alimentación humana y animal. Además, se usa como cercas y setos vivos, se le atribuyen propiedades medicinales e insecticidas, e incluso puede ser utilizado como cultivo comercial. Esta especie es de rápido crecimiento y la producción de semillas puede comenzar incluso en el primer año de establecida la plantación, lo que depende de muchos factores, como las precipitaciones y la forma de propagación que se utilice (por semillas o por estacas. Su establecimiento, manejo y productividad en diferentes condiciones climatológicas aún no está bien documentado, principalmente en lo que concierne a sus requerimientos de nutrientes o fertilizantes y, en el caso de Cuba, la mayoría de los estudios relacionados con su agrotecnia y producción están en ciernes. Esta planta aporta muchos productos beneficiosos, especialmente a partir de sus semillas, de las cuales se puede extraer aceite, con una calidad similar al de la palma aceitera. Este aceite puede reemplazar al keroseno, al petróleo y a la leña/carbón con relativo éxito, por lo que se promueve su uso internacionalmente para satisfacer las demandas de las zonas rurales en cuanto a la iluminación, cocina y fuerza motriz. Otros usos muy importantes lo constituyen la producción de biocombustible a partir del aceite, la fabricación de jabón y la extracción de glicerina con fines industriales. Su cultivo y expansión podría proporcionar nuevas fuentes de empleo, así como mejorar el medio ambiente y el nivel y la calidad de vida de la

Post-traumatic shoulder movement disorders: A challenging differential diagnosis between organic and functional

Science.gov (United States)

Pandey, Sanjay; Nahab, Fatta; Aldred, Jason; Nutt, John; Hallett, Mark

2014-01-01

Peripheral trauma may be a trigger for the development of various movement disorders though the pathophysiology remains controversial and some of these patients have a functional (psychogenic) disorder. We report 3 cases of shoulder movement disorders following trauma to the shoulder region. Physiology was done in all the patients to extend the physical examination. Two patients had history of recurrent shoulder dislocation and were diagnosed with Ehlers-Danlos syndrome. One patient had shoulder injury following repeated falls while performing as a cheerleader. In two patients there were some clinical features suggesting a functional etiology, but physiological studies in all three failed to produce objective evidence of a functional nature. Shoulder movement following trauma is uncommon. Diagnosis in such cases is challenging considering the complex pathophysiology. The movements can be associated with prolonged pain and handicap, and once established they appear resistant to treatment. PMID:25197686

Notas sobre tres especies de Gigartinaceae (Rhodophyta del litoral peruano

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Martha Calderón

2011-05-01

Full Text Available La gran variabilidad morfológica de la familia Gigartinaceae ha producido constantes cambios taxonómicos en sus especies miembros. Tradicionalmente su taxonomía ha estado basada en caracteres de la morfología externa; sin embargo, recientes estudios morfológicos, respaldados con trabajos moleculares, han delimitado los géneros en base a al desarrollo del cistocarpo y de los tetrasporangios. El presente trabajo revisa y comenta sobre las estructuras morfológicas vegetativas y reproductivas de tres especies presentes en Perú: Chondracanthus chamissoi, Mazzaella denticulata y Chondrus canaliculatus.

Distribución actual e importancia epidemiológica de las especies de triatominos (Reduviidae: Triatominae en Colombia

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Jorge A. Molina

2000-12-01

Full Text Available Se presenta la distribución geográfica y la importancia epidemiológica en la transmisión de la enfermedad de Chagas de las 23 especies de triatominos presentes en Colombia, tomando como base los registros bibliográficos existentes en el pais y las colecciones de referencia del Laboratorio de Entomologia del Instituto Nacional de Salud y del Centro de Investigaciones en Microbiologia y Parasitologia Tropical de la Universidad de los Andes; además, se realiza un análisis de las condiciones ecológicas en las cuales han sido registrados triatominos en los paises con fronteras con Colombia para poder establecer la presencia de posibles especies que aún no se han registrado en nuestro pais. De esta manera. existe la posibilidad de tener en Colombia especies con hábitos silvestres como: Alberprosenia malheiroi. Belminus laportei y Cavernicola lenti, preentes todas ellas en los departamentos amazónicos; Triatoma nigromaculata en la Cordillera Oriental y con hábitos intradomiciliarios; Panstrongylus chinai con posibilidad de encontrarse en hábitats selváticos o en las viviendas de los colonos de la Amazonia debido a su atracción por la luz y Alberprosenia goyovargasien hábitats silvestres de la frontera con Venezuela. Se resalta la importancia de la vigilancia entomológica a nivel nacional como estrategia para reforzar los estudios de triatominos silvestres en Colombia.

Los Assamiidae (Opiliones: Assamiidae de Río Muni (Guinea Ecuatorial, con la descripción de ocho nuevas especies

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Rakel Santos

2010-03-01

Full Text Available Los Opiliones de Guinea Ecuatorial y su Región Continental (antiguamente conocida como Río Muni no habían sido previamente estudiados. El material recogido en 1996 ha proporcionado 22 especies, de las que diez pertenecen a la familia Assamiidae y son objeto de este trabajo: Chilon robustus gen. nov., sp. nov. y Mbinia xenophora gen. nov., sp. nov. (Erecinae, Podauchenius longipes sp. nov. y Rhabdopygus funilignorum sp. nov. (Hypoxestinae, Ayenea trimaculata gen. nov., sp. nov., Montalenia forfícula gen. nov., sp. nov. y Niefanga spinosa gen. nov., sp. ov. (Polycoryphinae, Binderia longipes sp. nov., Seuthes inermis sp. nov. y Seuthessus coriscanus sp. nov. (Selencinae. Se considera a Ayenea, Montalenia y Niefanga como un nuevo grupo supragenérico basado en la presencia de un par de orificios en el lado dorsal del pene y un grueso opérculo genital con mecanismo de apertura. Se añaden claves para la identificación de especies de los taxones tratados, así como fotografías a color de ambos sexos (excepto la hembra de B. longipes. En el Parque Nacional de Monte Alén se han encontrado ocho especies; solamente faltan de allí dos selencinos, aparentemente costeros.The Assamiidae (Opiliones: Assamiidae from Río Muni (Equatorial Guinea, with the description of eight new species. The Opiliones from Equatorial Guinea’s Continental Region (formerly Río Muni had not been studied previously. A collection made in 1996 produced 22 species, ten of which belong to the Assamiidae and are studied herein: Chilon robustus and Mbinia xenophora gen. nov., sp. nov. (Erecinae; Podauchenius longipes and Rhabdopygus funilignorum sp. nov. (Hypoxestinae; Ayenea trimaculata gen. nov., sp. nov., Montalenia forficula gen. nov., sp. nov. and Niefanga spinosa gen. nov., sp. nov. (Polycoryphinae; Binderia longipes sp. nov., Seuthes inermis sp. nov. and Seuthessus coriscanus sp. nov. (Selencinae. We consider Ayenea, Montalenia and Niefanga an informal suprageneric

Responsabilidades en Prevención de riesgos laborales; Especial referencia a la responsabilidad penal

OpenAIRE

Fernández Fernández, Cristina

2012-01-01

En este proyecto fin de grado se abordan las responsabilidades empresariales de prevención de riesgos laborales; civiles, administrativos, penales y recargo de prestaciones por incumplimiento de la normativa de prevención de riesgos laborales, con referencias jurisprudenciales y normativa vigente. Se hace especial referencia a la responsabilidad penal detallando los distintos tipos de delito; de peligro y de resultado, con sus distintas modalidades dolosa e imprudente, en su...

NUEVA ESPECIE DE RANA BROMELÍCOLA DEL GÉNERO PRISTIMANTIS (AMPHIBIA: CRAUGASTORIDAE, MESETA DE LA CORDILLERA DEL CÓNDOR, ECUADOR

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JORGE BRITO M.

Full Text Available RESUMEN Describimos una especie pequeña de rana bromelícola del género Pristimantis (longitud rostro-cloaca en hembras 20.3-23.3 mm; en machos 16.1-17.4 mm, proveniente de una remota meseta de arenisca de la Cordillera del Cóndor, en el sureste de Ecuador, con un rango altitudinal de 2.045-2.860 m. Una filogenia en base a secuencias de ADN (genes mitocondriales y nucleares muestra que la nueva especie forma parte del grupo P. orestes y está más cercanamente relacionada con una especie de Pristimantis aún no descrita de la vertiente sur oriental ecuatoriana. Difiere de sus congéneres de Ecuador, por su coloración dorsal y ventral predominantemente negra; superficie palmar amplia y robusta con dedos cortos y gruesos; presencia de un surco profundo y amplio extendido desde la base anterior del I dedo manual hasta la base posterior del tubérculo palmar; tubérculos subarticulares divididos, tubérculos supernumerarios agrandados y con granulaciones pequeñas. Todos los individuos registrados estuvieron en bromelias terrestres. Las llamadas son cortas, de frecuencia modulada, conformada por una nota con duración de 5-15 ms. Los insectos representaron el 80% de la dieta de la especie nueva.

Descripción de una especie nueva de alacrán con importancia médica del género Centruroides (Scorpiones: Buthidae del estado de Colima, México Description of a new species of scorpion of medical importance of the genus Centruroides (Scorpiones: Buthidae from the state of Colima, Mexico

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Javier Ponce-Saavedra

2009-12-01

Full Text Available Se describe Centruroides hirsutipalpus sp. nov. de la región de Minatitlán, Colima. Se compara con las especies morfológica y geográficamente más cercanas, C. elegans Thorell y C. tecomanus Hoffmann y con otras especies "rayadas" de Centruroides del centro-occidente de México. Es ésta una especie con importancia médica que no se había recolectado previamente.Centruroides hirsutipalpus sp. nov. from the region of Minatitlán, Colima, Mexico is described. The new species is compared with C. elegans Thorell and C. tecomanus Hoffmann, which are morphologically and geographically closely related. Comparisons with other species of "striped" Centruroides from central and western Mexico are included. This medically important species had not been collected previously.

Fauna de mosquitos asociada con Aedes aegypti en Guaduas, Colombia

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Víctor Alberto Olano

1993-06-01

Full Text Available Durante un estudio sobre la ecología del Aedes aegypti llevado a cabo en el área urbana de Guaduas, Colombia, se hallaron un total de siete especies de mosquitos que compartían hábitats con esta especie. Los criaderos en los cuales se encontró un mayor número de mosquitos asociados con el Aedes aegypti fueron los tanques bajos (albercas. Larvas de Toxorhynchites spp. se encontraron en tanques elevados. Se discute la importancia de estos hallazgos con relación a los aspectos de ecología y control del Aedes aegypti.

Programa especial del ciclo Por la radio en reclamo de la aparición con vida de Jorge Julio López : A un mes de haber sido visto por última vez en La Plata

OpenAIRE

López, Jorge Julio; Vénere, Virginia; Cardoso, Miriam; Toschi, Damián; Gil Lavedra, Ricardo; Bergman, Miriam; Yanzón, Rodolfo; Derotier de Cobacho, Sara; Eloy, Nilda; Mosquera, Alejandro; Ragendorfer, Alejandro; Vedio, Marta

2006-01-01

Con motivo de cumplirse el primer mes de la búsqueda y reclamo de aparición de Jorge Julio López, se emite un programa especial del ciclo Por la radio, programa periodístico de la segunda mañana de Radio Universidad, conducido por Virginia Vénere, Damián Toschi y Miriam Cardoso, con producción periodística de Virginia Ilariucci. Se realizan entrevistas y se reproducen testimonios en torno a la desaparición del testigo del juicio por crímenes de lesa humanidad contra el ex jefe de la Policía B...

Algunas Especies de Nematodos Criconemátides en Suelos Cultivados en Antioquia, Colombia

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Volcy Charles

1998-12-01

Full Text Available En este trabajo, se hizo la caracterización morfométrica de las especies Criconemella onoensis (Luc, 1959 Luc y Raski, 1981; Crieonema longulum Gunhold, 1953 y Mesocriconema peruense (Steiner, 1920 Loof y De Grisse (1973 las cuales fueron encontradas en diferentes regiones del departamento de Antioquia. C. onoensis es la especie más común, está asociada con una gama muy amplia de hospederos, pero no es frecuente en los suelos orgánicos del oriente antioqueño, mientras que las otras dos especies fueron halladas en la rizosfera de lulo (Solanum quitoense L. en suelos poco orgánicos del occidente del departamento. La presencia de C. longulum en estos suelos y este cultivo es registro nuevo ya que es frecuente en suelos orgánicos sembrados con crisantemo. De otro lado, estas especies reúnen, entre otras, esta combinación de caracteres: L = 0.538 mm, Est = 58µ, R = 122, RV = 8 y VL/VB = 1.0 en C. onoensis: L = 0.386 mm, Est = 82µ, R = 71, RV = 13 y VL/VB = 1.8 en C. longulum y L = 0 461mm, Est = 81 µ, R = 81, RV = 7 y VL/VB = 1.2 en M. peruense

Variación temporal de especies de Lutzomyia (Diptera: Psychodidae) en el área urbana de Sincelejo (Colombia)

OpenAIRE

Lambraño Cruz, Luz Fernanda; Manjarrez Pinzón, Gustavo; Bejarano Martínez, Eduar Elías

2012-01-01

Objetivos: Determinar la diversidad y la variación temporal de especies de Lutzomyia en el área urbana de Sincelejo (Colombia). Materiales y métodos: Se seleccionaron siete barrios de Sincelejo, capital del departamento de Sucre. Durante un año se realizaron muestreos quincenales y mensuales con trampas de luz tipo CDC y Shannon respectivamente, las cuales fueron instaladas en ambientes peridomiciliarios. Se analizó la diversidad de especies, así como la relación de la abundancia con variable...

Anatomía foliar comparada y relaciones filogenéticas de 11 especies de Laeliinae con énfasis en Brassavola (Orchidaceae

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Eliana Noguera-Savelli

2011-09-01

Full Text Available Brassavola crece en un amplio rango altitudinal y de tipos de hábitat desde el Norte de México hasta el Norte de Argentina. En los sistemas de clasificación de las plantas se utilizan normalmente caracteres vegetativos y florales, pero cuando las especies son muy similares, como es el caso de este género, los conflictos surgen en la delimitación de las especies, por lo tanto deben ser aplicados métodos alternativos de identificación. En este trabajo se exploró el valor taxonómico y filogenético de la estructura anatómica de las hojas de Brassavola, se consideró como grupo interno a siete especies de este género y como grupo externo a Guarianthe skinneri, Laelia anceps, Rhyncholaelia digbyana y Rhyncholaelia glauca. Entonces se realizaron secciones transversales de hojas frescas para el estudio de los caracteres anatómicos. Diez caracteres anatómicosvegetativos fueron seleccionados y codificados para el análisis filogenético. La reconstrucción filogenética se llevó a cabo bajo el principio de máxima parsimonia utilizando el programa NONA a través de WinClada. Todas las especies son anatómicamente similares, no obstante, difieren en algunos rasgos como presencia o no: de papilas epidérmicas, de hipodermis, de células con engrosamientos espiralados en la pared secundaria de las células del mesofilo, de inclusiones cristalinas; además en el tipo de hoja de acuerdo al arreglo del mesofilo; en la organización de los haces vasculares y de los paquetes de fibras extravasculares. En el árbol de consenso estricto se obtuvo una politomía. Asimismo, fue evidente que los caracteres anatómicos analizados son filogenéticamente poco informativos; sin embargo, en conjunción con caracteres morfológicos y/o moleculares, podrían dilucidar las relaciones filogenéticas.Comparative leaf anatomy and phylogenetic relationships of 11 species of Laeliinae with emphasis on Brassavola (Orchidaceae. Brassavola inhabits a wide altitude

Especies de Lutzomyia (Diptera: Psychodidae posibles vectores de leishmaniasis en la ciudad de Bucaramanga, Santander, Colombia

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Claudia M. Sandoval

1998-06-01

Full Text Available Debido al registro, en los últimos cinco años, de ciento venticinco casos urbanos de leishrnaniasis cutánea en la ciudad de Bucaramanga, se desarrolló el presente estudio con el fin de determinar las especies del género Lutzomyia existentes en la ciudad y sus implicaciones en salud pública. La búsqueda de los flebotomineos se hizo en ocho zonas de la ciudad en los meses de septiembre a diciembre de 1996, utilizando como técnicas de muestre0 trampas de luz tipo CDC y aspiración directa en cebo humano protegido y en sitios de reposo. Los insectos fueron preservados en alcohol al 70% y aclarados con KOH y fenol. Se capturaron 212 especímenes pertenecientes a once especies del género Lutzomyia y una del género Brumptomyia. Entre las especies antropofílicas encontradas, L. ovallesi y L. gomezi se destacan por ser reconocidas como vectores de Leishmania braziliensfs. L. ovallesi fue la especie de mayor distribución en la ciudad, L. gomezi la más abundante en las capturas con cebo humano; las dos se encontraron en barrios donde se ha informado el mayor número de casos de la enfermedad. El hallazgo de estas especies en la ciudad sugiere la posibilidad de que los habitantes de Bucaramanga puedan infectarse en el área urbana y crea la necesidad de continuar estudios que contribuyan a interrumpir el ciclo de transmisión.

EL PLAN DE ESTUDIOS DE LA CARRERA DE EDUCACIÓN ESPECIAL CON ÉNFASIS EN INTEGRACIÓN: UNA MIRADA DESDE LOS EGRESADOS

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Ana María Hernández Segura

2012-01-01

Full Text Available El objetivo principal del artículo es presentar la valoración que hacen los egresados de la carrera de Educación Especial acerca del Plan de Estudios, para establecer relaciones con planteamientos de este documento y otras fuentes que se enmarcan en la fundamentación misma del Plan. Uno de los actores e informantes claves de estos procesos es un grupo de egresados de la carrera, quienes en este caso particular hacen una valoración de su proceso de formación docente, tomando en consideración aspectos tales como: desempeño laboral y habilidades desarrolladas, valores y actitudes, formación teórica-práctica recibida, así como contenidos adquiridos y desempeño profesional, todos aspectos contemplados en el Plan de Estudios de la Carrera. Participó un total de 31 egresados, graduados del periodo 2006-2009 y se utilizó un cuestionario que consta de 55 ítems. Las principales conclusiones del estudio evidencian que los egresados deben participar en espacios de consulta, los cuales les permitan fortalecer sus procesos reflexivos. En este sentido, los egresados valoran que la atención de poblaciones diversas, la actitud de disposición y la sensibilidad ante las diferencias que poseen las personas con necesidades educativas especiales son las tres habilidades desarrolladas durante su proceso de formación y que adquieren mayor trascendencia en el quehacer de su profesión. Desde la perspectiva de los egresados, la formación en valores es una de las fortalezas que tiene el Plan de Estudios de la carrera, lo cual permite asegurar que la dimensión del ser persona es de vital importancia para el desarrollo de la profesión docente.

La cooperación, una estrategia eficiente en el origen evolutivo de nuestra especie

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Julia Sandra Bernal Crespo

2012-01-01

Full Text Available Este artículo propone la hipótesis de que la cooperación en forma de altruismo recíproco generalizado ejerció un papel esencial en el origen biosocial de nuestra especie. Al igual que en otras especies en que bajo condiciones adversas los individuos que se asociaron de forma permanente e incrementaron su eficacia biológica, en el origen de nuestra especie mamífera, primate y gregaria, los individuos con patrones de comportamiento de inversión parental, selección de parentesco y altruismo recíproco se coseleccionaron e incrementaron su eficacia biológica tanto a nivel individual como grupal. Propongo, además, que de las interacciones cooperativas reiteradas entre todos los individuos que son interdependientes surgió un patrón de organización social igualitario de estructuras simétricas, que resultó eficiente al conjugar los intereses individuales y colectivos, y que se mantuvo en equilibrio dinámico con mecanismos de regulación y control de aquellas conductas que pudieron desestabilizar el orden social.

Especies forestales promisorias para la diversificación de forestaciones en la Patagonia Argentina

OpenAIRE

Godoy, María Marcela; Defossé, Guillermo E; Thren, Martin

2007-01-01

En el oeste de la Patagonia argentina existen aproximadamente 70 mil hectáreas forestadas, de las cuales el 80% corresponde a Pinus ponderosa y el resto a Pseudotsuga menziesii y Pinus contorta. Con el objetivo de evitar esta tendencia hacia los monocultivos con sus consecuencias ecológicas y sanitarias desfavorables, surge la necesidad de evaluar la posibilidad de cultivar otras especies forestales que permitan la diversificación de las actuales forestaciones. En este trabajo se analizaron p...

Molecular basis of young ischemic stroke.

Science.gov (United States)

Bersano, Anna; Borellini, Linda; Motto, Cristina; Lanfranconi, Silvia; Pezzini, Alessandro; Basilico, Paola; Micieli, Giuseppe; Padovani, Alessandro; Parati, Eugenio; Candelise, Livia

2013-01-01

Epidemiological and family studies have provided evidence on the role of genetic factors in stroke, particularly in stroke occurring at young age. However, despite its impact, young stroke continues to be understudied. This article reviews the existing literature on the most investigated monogenic disorders (CADASIL, Fabry disease, MELAS, RVCL, COL4A1, Marfan and Ehlers-Danlos syndromes) causing stroke in young and a number of candidate genes associated with stroke occurring in patients younger than 50 years. Although our study failed in identifying strong and reliable associations between specific genes and young stroke, our detailed literature revision on the field allowed us to compile a panel of genes possibly generating a susceptibility to stroke, which could be a starting point for future research. Since stroke is a potentially preventable disease, the identification of genes associated with young stroke may promote novel prevention strategies and allow the identification of therapeutic disease targets.

ZIP13: A Study of Drosophila Offers an Alternative Explanation for the Corresponding Human Disease

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Guiran Xiao

2018-01-01

Full Text Available The fruit fly Drosophila melanogaster has become an important model organism to investigate metal homeostasis and human diseases. Previously we identified dZIP13 (CG7816, a member of the ZIP transporter family (SLC39A and presumably a zinc importer, is in fact physiologically primarily responsible to move iron from the cytosol into the secretory compartments in the fly. This review will discuss the implication of this finding for the etiology of Spondylocheirodysplasia-Ehlers-Danlos Syndrome (SCD–EDS, a human disease defective in ZIP13. We propose an entirely different model in that lack of iron in the secretory compartment may underlie SCD-EDS. Altogether three different working models are discussed, supported by relevant findings made in different studies, with uncertainties, and questions remained to be solved. We speculate that the distinct ZIP13 sequence features, different from those of all other ZIP family members, may confer it special transport properties.

July 2016 imaging case of the month

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Gotway MB

2016-07-01

Full Text Available No abstract available. Article truncated after first page. Clinical History: An 18-year-old non-smoking man with a previous diagnosis of Ehlers-Danlos syndrome presented with mild shortness of breath and new cough. Physical examination was normal. The patient was afebrile. Laboratory data were remarkable except for a mildly elevated white blood cell count of 11 x 109 cells/L. Serum chemistries were within normal limits. Oxygen saturation on room air was 97%. Frontal chest radiography (Figure 1 was performed. A previous comparison chest radiograph from 3 years earlier (Figure 2 is shown as well. Which of the following statements regarding the chest radiograph is most accurate? 1. The frontal chest radiograph shows new bilateral small nodular opacities; 2. The frontal chest radiograph shows new focal opacity in the lateral right base; 3. The frontal chest radiograph shows new mediastinal lymphadenopathy; 4. The frontal chest radiograph shows no focal abnormalities or change from prior; 5. The frontal chest radiograph shows pneumothorax. ...

Myofibroblast Expression in Skin Wounds Is Enhanced by Collagen III Suppression

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Mohammed M. Al-Qattan

2015-01-01

Full Text Available Generally speaking, the excessive expression of myofibroblasts is associated with excessive collagen production. One exception is seen in patients and animal models of Ehlers-Danlos syndrome type IV in which the COL3A1 gene mutation results in reduced collagen III but with concurrent increased myofibroblast expression. This paradox has not been examined with the use of external drugs/modalities to prevent hypertrophic scars. In this paper, we injected the rabbit ear wound model of hypertrophic scarring with two doses of a protein called nAG, which is known to reduce collagen expression and to suppress hypertrophic scarring in that animal model. The higher nAG dose was associated with significantly less collagen III expression and concurrent higher degree of myofibroblast expression. We concluded that collagen III content of the extracellular matrix may have a direct or an indirect effect on myofibroblast differentiation. However, further research is required to investigate the pathogenesis of this paradoxical phenomenon.

Current Evidence and Insights about Genetics in Thoracic Aorta Disease

Science.gov (United States)

Muneretto, Claudio

2013-01-01

Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve. PMID:24453931

Genetics of ischaemic stroke; single gene disorders.

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Flossmann, Enrico

2006-08-01

Examples of single gene disorders have been described for all major subtypes of ischaemic stroke: accelerated atherosclerosis and subsequent thrombo-embolism (e.g. homocysteinuria), weakening of connective tissue resulting in arterial dissections (e.g. Ehler-Danlos type IV), disorders of cerebral small vessels (e.g. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and the collagen COL4A1 mutation), disorders increasing the thrombogenic potential of the heart through affecting the myocardium or the heart valves or through disturbance of the heart rhythm (e.g. hypertrophic cardiomyopathy), mitochondrial cytopathies increasing cerebral tissue susceptibility to insults (e.g. mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and finally disorders of coagulation that can either directly cause stroke or act synergistically with the aforementioned abnormalities (e.g. sickle cell disease). Most of these disorders are rare but they are important to consider particularly in young patients with stroke, those with a family history or those who have other characteristics of a particular syndrome.

Carotid-cavernous fistula after functional endoscopic sinus surgery.

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Karaman, Emin; Isildak, Huseyin; Haciyev, Yusuf; Kaytaz, Asim; Enver, Ozgun

2009-03-01

Carotid-cavernous fistulas (CCFs) are anomalous communications between the carotid arterial system and the venous cavernous sinus. They can arise because of spontaneous or trauma causes. Most caroticocavernous fistulas are of spontaneous origin and unknown etiology. Spontaneous CCF may also be associated with cavernous sinus pathology such as arteriosclerotic changes of the arterial wall, fibromuscular dysplasia, or Ehler-Danlos syndrome. Traumatic CCFs may occur after either blunt or penetrating head trauma. Their clinical presentation is related to their size and to the type of venous drainage, which can lead to a variety of symptoms, such as visual loss, proptosis, bruit, chemosis, cranial nerve impairment, intracranial hemorrhage (rare), and so on. Treatment by endovascular transarterial embolization with electrolytically detachable coils is a very effective method for CCF with good outcomes. Carotid-cavernous fistulas have been rarely reported after craniofacial surgery and are uncommon pathologies in otolaryngology practice. In this study, we report a 40-year-old woman with CCF secondary to blunt trauma of functional endoscopic sinus surgery.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

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Niederhoffer, Karen Y; Fahiminiya, Somayyeh; Eydoux, Patrice; Mawson, John; Nishimura, Gen; Jerome-Majewska, Loydie A; Patel, Millan S

2016-09-01

Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome, Freeman-Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende-Gupta syndrome. We discuss this differential diagnosis in the context of a boy from a consanguineous union with Van den Ende-Gupta syndrome, a diagnosis initially confused by the atypical presence of intellectual disability. SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. We review distinguishing features for each Marden-Walker-like syndrome and propose a clinical algorithm for diagnosis among this spectrum of disorders. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Perspectivas interculturais dos professores de educação especial do Algarve

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Venâncio Bilé Ramos, Teresa Jesus

2016-01-01

Con este estudio nos proponemos a conocer las perspedávas y las estrategias de acción de algunos maestros de Educación Especial* refeente a la rntomlturalidad en eli contesto educativo y que trabajan en las escuelas públicas en el Algarve, en particular en ¥Sa. Real de Santo. Antonio* Glhao* Faro* Louté yPortrmao. El interés en esta problemática resulta de las preguntas que nos hemos venido colocando los maestros de educación especial durante el ejercicio de nuestra actividad, sobre las es...

Registros nuevos de especies de Lutzomyia (Diptera: Psychodidae en el departamento de Cesar, Colombia

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Luis Gregorio Estrada

2015-09-01

Full Text Available El estudio de los insectos asociados a la epidemiología de la leishmaniasis, en la Costa Caribe colombiana, se ha concentrado en los departamentos de Sucre y Córdoba, por consiguiente existe un escaso conocimiento de la fauna de flebotomíneos del resto de la región. En la presente nota se presentan cuatro nuevos registros de Lutzomyia spp., para el departamento de Cesar. Los insectos fueron colectados con dos trampas de luz tipo CDC, equipadas con LED de color azul, en el Balneario Hurtado de la ciudad de Valledupar, Cesar. Se recolectaron en total 50 flebotomíneos, los cuales estuvieron representados por las especies Lutzomyia cayennensis cayennensis (38 %, L. evansi (28 %, L. trinidadensis (14 %, L. venezuelensis (10 %, L. micropyga (6 % y L. rangeliana (2 %. Como primeros registros para el departamento sobresalen L. evansi, L. venezuelensis, L. micropyga y L. rangeliana, con lo que se eleva a ocho el número de especies reportadas hasta la fecha en el Cesar. Entre los nuevos registros se destaca el hallazgo de L. evansi, reconocido vector de Leishmania spp. en la Costa Caribe de Colombia.

Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia

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Eduardo Augusto Gálvez-Cuitiva

2015-11-01

días. Se suspendió la quimioterapia porque desarrolló choque séptico que puso en riesgo su vida. Por su enfermedad de base permaneció bajo vigilancia. Actualmente, 17 meses después, la paciente vive sin actividad tumoral.  Conclusión: existe asociación entre ataxia-telangiectasia, leucemia y linfomas. Se describe el caso clínico de una paciente con ataxia-telangiectasia y tumor germinal mixto con componente de disgerminoma y coriocarcinoma de ovario. Se propone establecer un tratamiento especial para estos pacientes inmunocomprometidos, con alto riesgo de cáncer pero, a la vez, de no tolerar los esquemas habituales.

Inclusión del alumno con discapacidad auditiva en el aula de educación especial

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Beatriz Pedrosa Vico

2017-07-01

Full Text Available El presente artículo analiza la situación del alumnado con discapacidad auditiva en Educación Primaria, como consecuencia de la falta de recursos personales y mediosmateriales para conseguir un aprendizaje significativo y un desarrollo social y académico. Para ello, analizaremos diferentes enfoques metodológicos que favorezcan la permanencia de este alumnado en el sistema educativo, favoreciendo su desarrollo en un ámbito inclusivo.

Citogenética de especies de Vasconcellea (Caricaceae

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Caetano Creucí María

2008-12-01

Full Text Available Conocer aspectos básicos de la citogenética de las papayas de montaña o papayuelas, especies del género Vasconcellea (Caricaceae originarias de Ecuador y Colombia, fue el objetivo del trabajo. Botones florales se fijaron en etanol-acético 3:1 por 24h, luego se transfirieron a nueva solución y se almacenaron en frío. Los microsporocitos y los granos de polen se tiñieron con acetocarmín (1%. Se evaluaron las fases de meiosis y la viabilidad de polen para describir el comportamiento cromosómico. Se encontró que: 1 todas las seis especies estudiadas fueron diploides (2n=2x=18; 2 se describió el número cromosómico para V. sphaerocarpa, V. longiflora y V. palandensis (2n=18; 3 el grado de asimetría de los complementos cromosómicos indicó un proceso de evolución; 4 la presencia de numerosos NOR en V. sphaerocarpa está relacionada con los micronucleolos y corroboró el posible origen híbrido; y 5 V. cauliflora (42.98% y V. cundinamarcensis (47.93% presentaron la más baja viabilidad polínica.

Factor de la reflectancia bi-cónica en especies vegetales contrastantes: modelación global

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Fernando Paz

2018-01-01

Full Text Available La clasificación de la vegetación usando información espectral multi-angular ha sido aproximada con esquemas de modelación restringidos o con hipótesis de homogeneidad o estacionariedad. En este trabajo se presenta un esquema de modelación global de los ángulos cenitales y acimutales en la reflectancia de la vegetación, extendiendo los desarrollos al caso de los efectos de cambios en las propiedades ópticas del fondo de la vegetación (suelos y de la densidad de plantas (follaje. Esta síntesis se realiza en un espacio superior de compactación que depende esencialmente de dos parámetros y engloba todas las variaciones analizadas. El esquema de modelación global desarrollado se aplicó al caso de arreglos de plantas, diferentes densidades de ocho especies con arquetipos contrastantes y suelos desnudos. La modelación se aplicó a las mediciones de factores de reflectancia bi-cónicos, donde los ajustes resultaron óptimos (generalmente con R2 ≥ 0.99 y errores relativos medios menores al 7%. El análisis de los resultados mostró que la información espectral multi-angular para clasificación de especies, bajo condiciones generalizadas, mantiene todavía problemas de confusión en la discriminación de especies. Esto puede explicarse por la síntesis de análisis realizada de las variaciones asociadas a la discriminación.

Plántulas de algunas especies leñosas nativas y connaturalizadas del bosque subandino Silvania- Cundinamarca- Colombia

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Barrera Torres Eduardo

1992-06-01

Full Text Available Con el propósito de identificar, en el medio natural, los primeros estadios de crecimiento de algunas especies de árboles y arbustos representativps de la franja inferior del Bosque Subandino, se describen las plántulas de 45 taxa de Dicotiledóneas, obtenidas mediante la germinación de semillas en condiciones de vivero semidescubierto. Entre otros caracteres observados, útiles para el reconocimiento taxonómico, se cuentan las modalidades de germinación, la estructuración y organización de los cotiledones, del hipocotilo y el epicotilo, complementados con la determinación de la filotaxis y la diferenciación foliar. Las familias con mayor número de especies estudiadas corresponden a los ordenes Fabales y Myrtales , con 13 y 6 especies, respectivamente.In order to identify in the natural medium the first growth sta tes of some trees and ahrubs represented on the inferiorfringe of the andino woods, 45 taxa of Dicotyledons seedlings are described, obtained through germination of seeds under semigreenhouse conditions. Among other characters observed which are used for taxonomic identification are: The germination, structure and organization of the Cotyledons, hypocotyl, andepicotyl coupled with the determination of the filotaxis and leaf diferentiation. The familias of the higher species studied
correspond to the orders: Fabales and Myrtales, whith 13 and 6 species respectively.

LA RIQUEZA DE LAS PLANTAS CON FLORES DE COLOMBIA

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J. ORLANDO RANGEL-CH.

2015-01-01

Full Text Available Con base en los inventarios florísticos a nivel regional que se adelantan desde 1991 se documentaron los patrones de riqueza (distribución, concentración a nivel de familia de las plantas con flores en Colombia y en sus regiones naturales extra-andinas. En Colombia están representadas 238 de las 414 familias de plantas con flores reconocidas a nivel global, lo cual significa el 57.7% de esta riqueza. De las regiones naturales incluidas en este estudio, la Amazonia es la más rica en número de especies y la de mayor superficie y en el Caribe se alcanzó el mayor número de familias (201. El índice de riqueza a nivel de familia fue mayor en el Caribe (15.6 x 10-4 y el de especies fue mayor en el Chocó (3.4x10-2 y menor en la Orinoquia (1.7x 10-2.. En la Orinoquia están ausentes 65 familias, en la Amazonia 49, en el Chocó 59 y en el Caribe 35 respectivamente. En cuanto a distintividad taxonómica a nivel de familias, en el Caribe se encuentran 19 familias con distribución restringida, en Amazonia cinco, en el Chocó y en la Orinoquia una en cada caso. No se comprobó una relación directa entre superficie del área de la región natural y las expresiones de la riqueza y de la distintividad taxonómica. Se confirma el patrón alto de riqueza en un número reducido de familias, en las 50 familias más ricas en todas las regiones naturales se concentran los valores de riqueza específica por encima del 82%. Entre las familias con mayor concentración de especies en Colombia, en comparación con la situación a nivel del mundo cabe destacar a Metteniusaceae, grupo que presenta siete de las nueve especies registradas en el mundo e igualmente a Brunelliaceae, Siparunaceae, Cyclanthaceae, Heliconiaceae, Myristicaceae, Marcgraviaceae, Gunneraceae, Humiriaceae, Rapateaceae y Tropaeolaceae. Una comparación de los patrones de riqueza a nivel de familia en los países megadiversos de Suramérica, muestra que en Brasil 41 familias tienen mayor n

VARIACIÓN ALTITUDINAL ENTRE ESPECIES Y PROCEDENCIAS DE Pinus pseudostrobus, P. devoniana y P. leiophylla. ENSAYO DE VIVERO

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Dante Castellanos-Acuña

2013-01-01

Full Text Available Los bosques de pino-encino de la comunidad de Nuevo San Juan, Michoacán, están dominados por Pinus pseudostrobus, P. devoniana y P. leiophylla. Los patrones de variación genética de estas especies no se conocen lo suficiente, particularmente los de P. leiophylla, lo cual limita la creación de lineamientos para el movimiento de semillas y plántulas para reforestación y su adaptación al cambio climático. Las especies se recolectaron en cuatro o cinco procedencias a lo largo de un transecto altitudinal (1,650 a 2,500 m para el establecimiento de un ensayo en vivero, con el objetivo de cuantificar la variación genética entre y dentro de las especies. La altura de la planta (tres y cinco meses de edad fue significativamente diferente (P < 0.0001 entre especies. Entre procedencias hubo diferencias significativas para P. devoniana (P < 0.0001 y P. leiophylla (P = 0.0352. La especie P. devoniana mostró un pronunciado patrón de crecimiento asociado con la altitud de origen, donde las plantas con mayor crecimiento procedían de una menor altitud. Las poblaciones de P. leiophylla fueron diferentes sólo a los tres meses de edad, sin un patrón altitudinal estadísticamente significativo. No se encontraron diferencias significativas entre poblaciones de P. pseudostrobus.

Morfología de las especies de Hyphessobrycon (Characiformes: Characidae, grupo heterorhabdus, en Colombia

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Carlos A. García-Alzate

2011-06-01

Full Text Available El género Hyphessobrycon incluye dieciocho especies reportadas para Colombia de las cuales 13 son miembros del grupo heterorhabdus; con las mismas, se realizó un análisis morfogeométrico por medio del Método de Cerchas (Box Truss y Láminas Delgadas (TPS. Se usaron 13 hitos homólogos tipo I y tres tipo II. El resultado del análisis cluster, llevado a cabo con cada una de las metodologías indicó que estas especies están representadas en dos grandes grupos: robustas y delgadas. Las deformaciones parciales, los componentes uniformes, no uniformes, Warps principales y Warps parciales describieron cambios de la forma relacionados con la profundidad del cuerpo e involucraron desplazamientos relativos del esqueleto apendicular y de la región cefálica. Todas las especies se caracterizan por presentar crecimiento alométrico excepto Hyphessobrycon mavro con isometría entre los hitos 6-7. Se plantean dos nuevas medidas discriminantes (hocico-supraoccipital y supraoccipital-aleta pélvica para las especies del grupo.Morphology of the species Hyphessobrycon, heterorhabdus group (Characiformes: Characidae in Colombia. Hyphessobrycon is the most numerous and morphologically complex genus of Characidae, and includes 18 species reported for Colombia, from which thirteen belong to the heterorhabdus-group different methods have been proposed for species identification within this genus. This study used these species to undertake a morphogeometric analysis by the Box Truss and Thin Plate Splin (TPS methods; 13 homologous landmarks type I and three type II were used. The result of cluster analysis indicated that these species are represented by two big groups: robust and thin. The uniform and non uniform components, and the principal warps (WP and partial warps (Wparc, described the shape changes related to body depth, involving relative displacements of the appendicular skeleton and the cephalic region. All species were characterized by allometric

Especies de Ulva del Golfo San Jorge, Patagonia Argentina: variaciones bioquímicas estacionales - espaciales y su relación con la producción de metabolitos bioactivos

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Analía Verónica Uhrich

Full Text Available Objetivos: Investigar especies de Ulva del Golfo San Jorge, Patagonia Argentina, integrando aspectos bioquímicos, actividad biológica y variaciones estacionales/habitacionales que permitan determinar su potencial aplicación en Salud. Métodos: Las algas se colectaron estacionalmente en playas con y sin contaminación antrópica; se secaron, molieron y extrajeron con etanol. Los extractos se fraccionaron mediante solventes de distinta polaridad. Cada fracción fue caracterizada mediante reacciones químicas cualitativas y cromatografía. Las fracciones ricas en flavonoides se analizaron por HPLC-DAD y los lípidos, por TLC. La actividad biológica se ensayó mediante el test de citotoxicidad de Artemia salina, inhibición de la elongación radicular, inhibición de la xantino oxidasa, actividad antioxidante y antibacteriana. Resultados: Se identificaron Ulva rigida y Ulva lactuca. Ambas evidenciaron flavonoides, taninos, quinonas, lípidos, carbohidratos, esteroides. Los flavonoides resultaron mayoritarios en U. rigida (otoño e invierno y en U. lactuca (primavera e invierno, destacándose kayaflavona. Se detectaron alcaloides en Ulva rigida (verano. Los lípidos fueron mayoritarios en verano; U. lactuca en invierno mostró monogalactosildiacilglicérido y en otoño, digalactosilacilglicérido y fosfatidilcolina. La actividad inhibitoria de la elongación radicular, que presume actividad antitumoral, fue importante y dosis dependiente, destacándose U. rigida de otoño y primavera (DE50= 480 y 520 µg/ml, respectivamente. Las demás bioactividades resultaron escasas o negativas. Conclusiones: Las variaciones metabólicas observadas muestran la importancia de considerar las condiciones espacio - temporales al planificar una colecta de ejemplares para su estudio y/o aplicación. Este primer análisis integral de especies de Ulva de la Patagonia Argentina, evidencia su potencialidad como antitumoral.

Productos del mercado artesanal en la ciudad de Leticia (Amazonia colombiana elaborados con especies de bosques de Mauritia flexuosa L.f.

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Sandra Lorena Franco Arango

2015-06-01

Full Text Available Los productos forestales no maderables (PFNMs han tomado fuerza como alternativa para la conservación de ecosistemas y la generación de ingresos económicos en las poblaciones asociadas. Se presenta un mayor interés sobre los productos que provienen de bosques oligárquicos (poco diversos y con alta densidad relativa, especialmente los dominados por palmas, como por ejemplo los bosques de Mauritia flexuosa (aguajales, cananguchales o buritizales. En el mercado artesanal de Leticia (Amazonia colombiana se identificaron 68 productos provenientes de nueve especies de plantas del canaguchal, teniendo las palmas (Astrocaryum chambira, Euterpe precatoria, M. flexuosa, Oenocarpus bataua y Socratea exorrhiza el mayor potencial comercial. Los productos más frecuentes fueron las mochilas de fibras de A. chambira (chambira y los precios de venta más altos correspondieron a las esculturas de Brosimum rubescens (palo de sangre. No existen estadísticas oficiales de este mercado, ni entes del Estado que regulen y orienten la producción y comercialización de los productos que se extraen del bosque. No obstante, los PFNMs representan una alternativa para diversificar las oportunidades productivas de los pobladores de la región.

Efecto de sedimentos naturales enriquecidos con zinc, en modelos aislados y en microcosmos, sobre tres especies de invertebrados bentónicos

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Marcela Galar Martínez

2006-06-01

Full Text Available En los cuerpos acuáticos la disponibilidad de los tóxicos es limitada por las características fisicoquímicas de los sedimentos y agua, así como por las interacciones entre los diversos xenobióticos y entre las especies que los habitan. Por lo anterior, el objetivo del presente trabajo fue relacionar el efecto producido por el zinc (Zn sembrado en sedimentos del embalse Ignacio Ramírez (PIR, en modelos aislados y en microcosmos, sobre el ATP de tres organismos bentónicos con la biodisponibilidad del metal. Las especies seleccionadas fueron: Hyalella azteca, Limnodrilus hoffmeisteri y Stagnicola attenuata, dado que se encuentran en altas proporciones en el embalse y ocupan espacios diferentes en el bentos. Las muestras de sedimentos y organismos se colectaron en la estación de sequía (febrero de 1999. A los primeros se les determinó el pH, textura, tamaño de partícula, nitrógeno total, materia orgánica y concentración de metales (Zn, Fe, Cu y Ni. Posteriormente se realizó un estudio de toxicidad subletal utilizando dos tipos de sistemas estáticos (organismos aislados y en microcosmos. Ambos modelos contenían sedimentos de la PIR enriquecidos con Zn (concentración nominal de 0.8129 mg/kg y agua sintética en una proporción de 1:4. Los organismos de prueba fueron adicionados una vez alcanzado el equilibrio (2 hr considerando la cantidad de biomasa con respecto al volumen (1.0 g de organismo por cada 100 ml de agua:sedimento. Después de 0, 12, 24, 36, 48 y 72 hr de exposición se tomaron muestras del sedimento y de los hidrobiontes, a los cuales se les cuantificó el contenido de Zn por absorción atómica. A los organismos también se les determinó la concentración de ATP. Los resultados obtenidos muestran que el efecto producido por los sedimentos naturales enriquecidos se ve potenciado por la presencia de más de una especie en el sistema (microcosmos. Con respecto a los niveles de Zn, dos de los organismos (L. hoffmeisteri

Registros adicionales de tres especies de murciélagos en el Yasuní, Amazonía Ecuatoriana*

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Guerra, Jaime; Albuja Viteri, Luis Humberto

2012-01-01

En este artículo se da a conocer que en el Ecuador, hasta el presente, han sido registradas 403 especies de mamíferos (Albuja 2011). De este número los quirópteros son los más abundantes con 164 especies, que representan el 41% de la mastofauna ecuatoriana.

COSTO ENERGÉTICO DE PROCESOS CEREBRALES CON ESPECIAL ÉNFASIS EN APRENDIZAJE Y MEMORIA

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L. R. Lareo

2006-12-01

Full Text Available En el presenta trabajo se reportan algunos cálculos básicos sobre la utilización de energía en el cerebro, para su funcionamiento normal, con algunas predicciones sobre la parte de esta energía que es empleada en los procesos de aprendizaje y memoria. Las implicaciones de la actual imposibilidad de transferencia directa de conocimiento de los padres a su progenie y los costos económicos de esta “ineficiencia” hacen que este problema sea propuesto como una de las fronteras de la investigación en las neurociencias, en particular las neurociencias computacionales, y la neuroinformática. Se culmina asumiendo como un reto investigativo la propuesta del futurólogo inglés Ian Pearson sobre la cercana posibilidad de interacción directa computador-cerebro.

Caracterización morfológica y relaciones fenéticas entre especies de los órdenes liliales y poales

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Guevara O, Lorena; Benítez de Rojas, Carmen

2004-01-01

Con el fin de realizar la caracterización morfológica, comparar y discutir acerca de las posibles relaciones fenéticas, se estudiaron 19 especies pertenecientes a 8 familias del orden Liliales (Cronquist, 1988) y 2 especies de la familia Poaceae subfamilia Bambusoideae (Judd et al., 1999). Se analizaron especímenes colectados en diferentes regiones del país, y otros depositados en el herbario "Víctor Manuel Badillo" de la Facultad de Agronomía de la Universidad Central de Venezuela (MY). Con ...

SINTESIS Y CARACTERIZACIÓN DE BENTONITA MODIFICADA CON ESPECIES DE TiO2 y Fe-TiO2 OBTENIDAS DEL MINERAL ILMENITA

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Juan Torres

2014-07-01

Full Text Available Se sintetizó una serie de sólidos nanoestructurados, obtenidos por la intercalación de nanopartículas de TiO2 y Fe-TiO2 en los espacios interlaminares de un mineral de arcilla esmectítico. Los nuevos materiales se prepararon mediante la modificación simultánea de dos minerales naturales: una bentonita y una ilmenita. Los materiales obtenidos se caracterizaron por fluorescencia de rayos X (FRX, espectroscopía infrarroja (IR, difracción de rayos X (DRX, microscopía electrónica de barrido (SEM y sortometría de nitrógeno. Los resultados del análisis químico (FRX confirmaron claramente la incorporación de titanio y de hierro en los materiales sintetizados. Los análisis por DRX, SEM y sortometría de nitrógeno verificaron la modificación del mineral de arcilla por incorporación de especies de dióxido de titanio, demostrando la generación de estructuras mesoporosas delaminadas o exfoliadas con incremento en los valores de área superficial y porosidad controlada.

Notas sobre escrofulariáceas de Colombia: I. - Nueva especie de Buchnera afin A B. Rubriflora Philcox

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Fernández Soto José Luis

1986-12-01

Full Text Available Se describe una nueva especie de Buchnera que presenta pilosidad glandular, la única entre las especies americanas del género y próxima a  B. rubriflora Philcox. Se aportan nuevos datos sobre la distribución y variabilidad de esta última, comentando finalmente la relación entre ambos táxones.  Al revisar las escrofulariáceas del Herbario Nacional Colombiano (COL, se tuvo la oportunidad de estudiar una serie de colecciones del género Buchnera, que son el objeto de esta primera nota sobre escrofulariáceas colombianas. Aparte de la localización de nuevos registros de B. rubriflora, que amplían la distribución conocida de la especie y otras puntualizaciones relativas a su parentesco y ecología; sin duda el dato más interesante lo aportó el estudio de unas plantas procedentes del sur de la Sierra de La Macarena (Depto. del Meta, que presentan indumento glandular, mezclado con pilosidad más corta no glandular. Este carácter único conocido hasta ahora en las buchneras americanas, permite describir esta planta como nueva. Este nuevo taxon está morfológicamente relacionado con B. rubriflora, con la que comparte además y con carácter exclusivo en las especies americanas la coloración roja de sus corolas. Se hacen por último algunos comentarios sobre este pequeño grupo de buchneras, del que probablemente falte aún mucho por conocer en cuanto a distribución y diversidad, por la falta de muestreo en amplios territorios colombianos ecológica y geológicamente similares a los enclaves hasta ahora conocidos para estos táxones.

Estrategia de intervención físico-recreativa en niños con síndrome Down de la escuela especial “Carlos Rodríguez Cariaga” en Camagüey

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Carlos A. Govea Macías

2009-12-01

Full Text Available Se realizó una investigación de intervención con la realización de un casi-experimento, para diseñar y aplicar una estrategia físico-recreativa utilización adecuada del tiempo libre de los niños con síndrome Down de la escuela especial “Carlos Rodríguez Cariaga” en Camagüey, con una duración de cinco meses, se escogió una muestra estratificada de seis niños y niñas. Para darle validez científica se utilizaron métodos teóricos, empíricos y matemáticos. A través de los cuales se pudo constatar que según los criterios de los autores consultados, es posible desarrollar actividades físico-recreativas en niños y niñas con síndrome Down, siempre que se tengan en cuenta sus gustos, preferencias, potencialidades y deficiencias, el estado actual del empleo del tiempo libre y su recreación es malo, pues lo dedican miran televisión, videos, bailan, jugando, dibujando, en el seno familiar, participando solo en actividades conmemorativas de la comunidad, se diseñó una estrategia físico-recreativa para el uso adecuado del tiempo libre que contiene ciento treinta y dos actividades, educativas, físicas y recreativas, con la aplicación de la estrategia físico-recreativa, se logra la inserción de las familias y de las niñas y niños a la comunidad, constituyen opciones valiosas para el empleo del tiempo libre, propiciando la erradicación del sedentarismo, desarrollando habilidades deportivas y capacidades físicas en actividades sanas y placenteras.

Williams-Beuren's Syndrome: A Case Report.

Science.gov (United States)

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Williams-Beuren's Syndrome: A Case Report

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Hassan Zamani

2012-01-01

Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Una especie nueva de Tillus Olivier, 1790 (Coleoptera, Cleridae de la Península Ibérica

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López-Colón, José Ignacio

2003-06-01

Full Text Available Tillus ibericus sp. nov. is described from the Comunidad Autónoma de Madrid (Spain and it is compared to the western Palaearctic species of the genus Tillus Olivier, 1790. Tillus ibericus is easily distinguished from all other species of the genus by the structure of the elytral sculpture and its characteristic coloration. This new species shares a general habitus and characters from the antennae, and general body stucture with T. flabellicornis Fairmaire, 1866, a species from northern Africa. All preexisting records of T. flabellicornis in the Iberian Peninsula correspond to T. ibericus sp. nov..Se describe Tillus ibericus sp. nov. de la Comunidad Autónoma de Madrid (España y se compara con las otras especies del género Tillus Olivier, 1790 de la región Paleártica occidental. Tillus ibericus se distingue con facilidad de las especies próximas por la estructura del punteado elitral y por su coloración característica. La especie nueva comparte un aspecto general y caracteres de la estructura del cuerpo y de las antenas con T. flabellicornis Fairmaire, 1866 del Norte de África. Todas las citas anteriores de T. flabellicornis de la Península Ibérica corresponden a T. ibericus sp. nov.

El vínculo especial de cuidado: construcción de una teoría fundamentada

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LORENA CHAPARRO DÍAZ

2010-12-01

Full Text Available El cuidado de una persona en situación de enfermedad crónica es cada día más frecuente y afecta la cotidianidad de muchas familias, pues les implica modificar el curso de la vida, las relaciones personales y los roles de la familia. En muchos casos, cuando uno de los miembros de la familia asume el papel de cuidador principal, es decir, la responsabilidad de cuidar a su familiar dependiente, con base en esa experiencia tiene la oportunidad de generar un "vínculo especial" de cuidado con la persona cuidada. El vínculo especial de cuidado entre esta díada compuesta por el cuidador y el cuidado es una alianza nueva y diferente llena de significado. Objetivo: comprender el significado del cuidado para la díada cuidador familiar-persona con enfermedad crónica. Método: se construyó una teoría fundamentada teniendo en cuenta los datos de veinte informantes residentes en Bogotá, que componían diez díadas. Resultados: la teoría sustantiva trascender en un 'vínculo especial' de cuidado: el paso de lo evidente a lo intangible, se generó a partir del estudio con tres variables: la limitación y la necesidad de ayuda, el paso del reto o compromiso al logro y la forma de trascender en un "vínculo especial". Discusión: la teoría que surge se analiza a la luz de las teorías de vínculos humanos, el significado de la vida, la autotrascendencia y el desarrollo del concepto de cuidado. Conclusiones: las díadas que viven una experiencia de enfermedad crónica perciben que se mueven a través de un eje que lleva a una situación de menor funcionalidad física que exige respuestas instrumentales de cuidado y, al mismo tiempo, surge un "vínculo especial" a través de espacios de proyección y trascendencia que redimensionan la experiencia, es decir, hay un paso de lo evidente a lo intangible.

Delincuencia organizada ambiental en México, una nueva manifestación criminal del tráfico de especies

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Alvarado-Martínez, Israel

2012-01-01

El estudio arroja la presencia de grupos delictivos organizados en el territorio mexicano, que trafican con especies de fauna protegidas, valiéndose de las mismas rutas que utiliza el narcotráfico y, en muchas ocasiones, mediante la diversificación de actividades criminales, por lo que lo mismo trafican con personas, armas y drogas que con ejemplares de vida silvestre, y obtienen ganancias calculadas solo por debajo del tráfico ilícito de drogas. No obstante estas características, en la legis...

Delincuencia organizada ambiental en México, una nueva manifestación criminal del trá co de especies

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Israel Alvarado Martínez

2012-01-01

El estudio arroja la presencia de grupos delictivos organizados en el territorio mexicano, que trafican con especies de fauna protegidas, valiéndose de las mismas rutas que utiliza el narcotráfico y, en muchas ocasiones, mediante la diversificación de actividades criminales, por lo que lo mismo trafican con personas, armas y drogas que con ejemplares de vida silvestre, y obtienen ganancias calculadas solo por debajo del tráfico ilícito de drogas. No obstante estas características, en la legis...

Metodología para la preparación del docente en la Adaptación Curricular Especial Necesaria

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Agripina Colás-Pons

2017-11-01

Full Text Available Se relacionan algunas indicaciones metodológicas que ayudan al docente a adquirir el nivel de preparación deseado para su desempeño profesional en la práctica pedagógica al interactuar con los contenidos para adaptarlos a la situación concreta de su grupo y de cada escolar con necesidad educativa especial.

Evaluación del estres oxidativo en pacientes con malaria

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Margarita Zuleta

2000-02-01

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El estrés oxidativo se define como un imbalance entre la generación de especies reactivas del oxígeno y la cantidad de enzimas y compuestos antioxidantes.

En malaria, el estrés oxidativo se presenta con la generación aumentada de especies reactivas del oxígeno como anión superóxido, peróxido de hidrógeno, radical hidroxilo y peroxinitrito; éstas son producidas por el sistema inmune del hospedero con el objetivo de controlar la parasitemia y directamente por el parásito intraeritrocítico, cuando en la vacuola digestiva transforman la hemoglobina en metahemoglobina. La producción de especies reactivas del oxígeno en malaria se ha demostrado por la peroxidación lipídica en eritrocitos infectados con plasmodium durante la fase aguda de la infección, determinada por métodos indirectos como el incremento en los niveles del ácido tiobarbitúrico en eritrocitos infectados o por el incremento en los niveles de malondialdehido en pacientes con malaria cerebral y por la disminución en la cadena de ácidos grasos poliinsaturados en los eritrocitos infectados.

El estrés oxidativo en malaria también se presenta con la disminución de enzimas y sustancias antioxidantes como la albúmina, el tocoferol plasmático, los niveles de enzimas como catalasa, glutatión peroxidasa y superóxido dismutasa en pacientes con malaria tanto causado por P. vivax como por P. falciparum. El estrés oxidativo en malaria se ha asociado con complicaciones como la malaria cerebral, porque las especies reactivas del oxígeno están involucradas en el daño del endotelio vascular del hospedero y con altas parasitemias en pacientes infectados con P. falciparum.

Propagación de especies herbáceas silvestres con potencial para paisajismo

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García-Albarado, J. Cruz; Gómez-Merino, Fernando Carlos; Trejo-Téllez, Libia Iris; Sandoval Pérez, Isauro Alfonso; Morales Ramos, Victorino

2013-01-01

En esta investigación se evaluó la propagación sexual (por semillas) y asexual (por esquejes) de Ruellia nudiflora, Centratherum punctatum y Salvia coccinea, en diferentes combinaciones de sustratos a base lombricomposta, turba, arena y vermiculita. Los volúmenes de lombricomposta y turba variaron de 50 a 100% (v/v), mientras que los de arena y vermiculita lo hicieron de 0 a 50% (v/v). En cuanto a semillas, la especie que respondió de manera más eficiente a los tratamientos fue S. coccinea, l...

Presymptomatic genetic analysis during pregnancy for vascular type Ehlers–Danlos syndrome

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Naing BT

2014-06-01

Full Text Available Banyar Than Naing,1 Atsushi Watanabe,1,2 Shinji Tanigaki,3 Masae Ono,4 Mitsutoshi Iwashita,3 Takashi Shimada1,21Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan; 2Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan; 3Department of Obstetrics and Gynecology, Kyorin University School of Medicine, Tokyo, Japan; 4Department of Pediatrics, Kyorin University School of Medicine, Tokyo, JapanAbstract: The vascular type of Ehlers–Danlos syndrome (EDS, EDS type IV (Online Mendelian Inheritance in Man [MIM] #130050 is characterized by thin, translucent skin, easy bruising, and arterial, intestinal, and/or uterine fragility during pregnancy, which may lead to sudden death. It is an autosomal dominant inherited disorder caused by type III procollagen gene (COL3A1: MIM #120180 mutations. Approximately 50% of the COL3A1 mutations are inherited from an affected parent, and 50% are de novo mutations. Each child of an affected individual has a 50% chance of inheriting the mutation and developing the disorder. Pregnant women with vascular EDS are at an increased risk of uterine and arterial rupture during the peripartum period, with high maternal morbidity and mortality rates. We report the first case of an asymptomatic 35-year-old woman at a risk of complications of vascular EDS who underwent presymptomatic evaluation during pregnancy. The sequencing results of both her brother and mother had a one-base-pair deletion, resulting in Glutamate at position 730 changing to Lysine and causing a frame shift and premature termination codon at 61 amino acids from the mutation position (p. Glu730Lysfs*61 on exon 32 of COL3A1. This deletion caused frameshift, leading to a premature termination codon (TAG at 181 nucleotides downstream in exon 35, which could not be detected by previous total RNA (ribonucleic acid method. Thus, she was at risk of complications of vascular EDS, and diagnostic testing was employed

Nuevas especies de Pythium que causan podredumbre radical de Quercus en España y Portugal

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Vicente, M.; Sánchez Hernández, Esperanza; Trapero Casas, Antonio; Jiménez, J.J.; Fernández, P.; Serrano Moral, María Socorro

2008-01-01

Pythium spiculum, una nueva especie recientemente descrita, se viene aislando desde 2003 de raíces y rizosfera de Quercus rotundifolia y Q. suber que sufren decaimiento en el sur de España y Portugal. En los suelos donde crecen formaciones de Quercus, esta especie ha sido aislada con frecuencias similares a las encontradas para Phytophthora cinnamomi, especie que, hasta el momento, ha sido el único oomiceto descrito como patógeno radical de Quercus en esta región. Las inoculaciones artificial...

Una nueva especie de rana terrestre del género Pristimantis (Amphibia: Craugastoridae, de la Cordillera de Kutukú, Ecuador

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Jorge Brito M.

2013-01-01

Full Text Available Describimos una especie nueva de mediano tamaño (LRC en la hembra 38.7 mm; en machos de 23.8 a 26.4 mm de rana terrestre del género Pristimantis de los bosques sub-tropicales de la Cordillera de Kutukú, del sureste de Ecuador, a elevaciones de 1581-1820 m. Asignamos a Pristimantis almendariz sp. nov., al subgénero Hypodictyon, serie de especies ridens. La nueva especie difiere de otros miembros de la serie ridens por su patrón distintivo con manchas dorsales, membrana timpánica ausente, presencia de tubérculos cónicos agrandados en el párpado, tubérculo inter-orbital prominente, e iris plateado con reticulaciones negras.

Historical biogeographic analysis of the family Fanniidae (Díptera: Calyptratae, with special reference to the austral species of the genus Fannia (Diptera: Fanniidae using dispersal-vicariance analysis Análisis biogeográfico histórico de la familia Fanniidae (Diptera: Calyptratae, con referencia especial a las especies australes del genero Fannia (Diptera: Fanniidae usando análisis de dipersion-vicarianza

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M. CECILIA DOMÍNGUEZ

2011-03-01

Full Text Available The purpose of this study was to achieve a hypothesis explaining the biogeographical history of the family Fanniidae, especially that of the species from Patagonia, the Neotropics, Australia, and New Zealand. We used "dispersal-vicariance analysis" (DIVA, an event-based parsimony method, to analyze the most parsimonious phylogenetic hypothesis for the family, obtained by Domínguez & Roig-Juñent (2008. The analysis resulted in 32800 alternative equally optimal reconstructions that indicate that the ancestor of the Fanniidae was widely distributed across different regions of the world, which along with the subsequent separation of two clades that correspond to the Laurasic and Gondwanan Landmasses allow the proposal of an older age than in previous hypothesis (Late Jurassic or early Cretaceous times instead of upper Cretaceous and a Pangeic origin for the Fanniidae. The northern hemisphere species of Fanniidae included in this study highlight the difficulty that arises when analysing with DIVA a tree with a large amount of paralogy or redundant distributions, as illustrated here with several examples. The southern hemisphere species of Fanniidae indicate a clear pattern of vicariance and dispersal consistent with the rupture of Gondwana.El propósito de este estudio fue el de obtener una hipótesis que explique la historia biogeográfica de la familia Fanniidae, especialmente la de las especies de las regiones Patagónica, Neotropical, Australiana y Neozelandesa. Se utilizó el método de "dispersión y vicarianza" (DIVA, el cual es un método de parsimonia basado en eventos para analizar el árbol filogenético más parsimonioso obtenido por Domínguez & Roig-Juñent (2008. El análisis resultó en 32800 reconstrucciones alternativas igualmente óptimas que indican que el ancestro de Fanniidae estaba ampliamente distribuido en distintas regiones del mundo, lo cual junto con la subsiguiente separación de dos clados que corresponderían a los

El bambú como elemento estructural: la especie Guadua Amplexifolia

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María Teresa Sánchez Medrano

2016-01-01

Full Text Available El uso de cualquier material como elemento estructural exige fundamentalmente del conocimiento de sus propiedades físico-mecánicas, con el objeto de conocer y aprovechar al máximo estas propiedades y/o descartarlo si no es considerado conveniente. Este trabajo presenta los resultados obtenidos del estudio del comportamiento físico-mecánico del bambú de la especie Guadua amplexifolia que crece endémicamente al norte del estado de Veracruz, México. Se utilizaron 100 culmos con longitud promedio de 5.5 m., respetándose los métodos de corte y sazonado tradicionales. Este estudio se apoyó en metodologías empleadas por las fuentes consultadas y en las propuestas de Normas de la Red Internacional del Bambú y del Ratán, tanto para propiedades físicas como mecánicas tales como pruebas a la compresión, tensión, y cortante paralelo a la fibra y flexión. Como baremo se tomaron los resultados obtenidos para la misma especie que crece en Monte Blanco, Veracruz, del estudio de (Ordoñez, 1999. Se obtuvieron valores promedio de los Esfuerzos últimos de falla para Compresión, Cortante y Tensión paralela a la fibra así como para Flexión perpendicular a la fibra. Se comparó con el baremo y los registros obtenidos resultaron similares, observándose una muy pequeña variación en los resultados posiblemente a consecuencia de la anisotropía del material, ubicación geográfica y edad de los culmos. Para la prueba de Compresión paralela a la fibra, se presentaron fallas por cortante longitudinal, esto debido a la constitución de las fibras del material, tensión diagonal y en un muy bajo porcentaje se presentó aplastamiento en las caras y paredes de la probeta. Para la prueba de Cortante, se presentaron fallas por cortante longitudinal, claramente visibles debido a la constitución de las fibras del material con un desplazamiento considerable de las paredes de la probeta y en un porcentaje menor se presentó falla por cortante diagonal

El gobierno del caballo montado en la antigüedad clásica con especial referencia al caso de Iberia. Bocados, espuelas y la cuestión de la silla de montar, estribos y herraduras

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Quesada Sanz, Fernando

2005-12-01

Full Text Available We examine the different elements of the horse’s tack in Antiquity: bits, spurs, saddle, stirrups and the problem of horseshoes, with special reference to the case of Iberia.

Se analizan los elementos de control del caballo montado en la Antigüedad: bocados, espuelas, silla y estribos, y se hace referencia al problema de las herraduras, todo ello con especial referencia al caso de la antigua Iberia.

Tendencias en la investigación sobre ecología y gestión de las especies de Quercus

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Marañón, Teodoro; Padilla Díaz, C. M.; Pérez-Ramos, Ignacio Manuel; Villar Montero, Rafael

2014-01-01

[ES]: El género Quercus reúne algunas de las especies arbóreas más relevantes en los bosques del hemisferio norte, tanto por su amplia distribución geográfica como por su gran importancia ecológica y económica. Algunas de estas especies han sido y continúan siendo foco central en numerosos estudios científicos relacionados con la ecología y gestión de ecosistemas forestales. Los objetivos de este artículo son: 1) conocer la evolución del número de artículos relacionados con Quercus, así como ...

ESTUDIOS CROMOSOMICOS EN ESPECIES ARGENTINAS DE VERNONIA (ASTERACEAE

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Massimiliano Dematteis

1996-01-01

Full Text Available Se estudian los cromosomas de once especies de Vernonia de Argentina. Los resultados incluyen el recuento en siete especies que nunca se han investigado citológicamente. Los cariotipos de seis taxones son analizados, cinco de ellos se describen por primera vez sobre: V. chamaedrys n = 17, 2n = 34 = 22m + 12 sm; V.loretensis n= 17, 2n = 34 = 20 m + 14 sm; V.rubricaulis n = 16, 2n = 32 = 20m + 12sm; V.remotiflora n = 14, 2n = 28 = 16m + 12sm y V.lepidifera n= 10, 2n = 20 = 8 m + 12sm. El registro de 2n = 4x = 28 para V.remotiflora apoya la existencia del número cromosómico básico x = 7. En un inoforme previo un conteo de cromosomas muestra que Vernonia es multibasic con x = 7, 9, 10, 11, 12, 15, 17 y 19. La importancia de los resultados se discuten en relación a los datos cromosómicos disponibles para el género

Nueva especie del género Arctosa (Araneae, Lycosidae del sur de Brazil

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Estevam Luís Cruz da Silva

2008-12-01

Full Text Available Se describe e ilustra una nueva especie del género Arctosa C. L. a Koch, 1848, en base a material procedente de Sapiranga, sur del Brasil. Los miembros de este género por lo general excavan refugios pequeños en los bordes arenosos de los lagos, sin embargo, esta nueva especie se encuentra debajo de rocas en los bordes de rios pequeños. Se puede encontrar hembras con ootecas y machos durante todo el año, aunque son más abundantes en el período del verano.

Caracterización de especies arbóreas y arbustivas forrajeras en clima semiárido del sur de Mozambique

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E Cordoví

Full Text Available Con el objetivo de caracterizar el comportamiento de especies forrajeras arbóreas y arbustivas en clima semiárido se desarrolló un experimento, con corte y en secano, con Gliricidia sepium, Leucaena leucocephala, Leucaena pallida, Moringa oleifera, Senna siamea y Morus alba. El diseño fue de bloques al azar, con cuatro réplicas, y se utilizaron parcelas de 12 m². En verano, L. leucocephala, L. pallida, S. siamea y M. alba produjeron más de 12 t de MS por hectárea como promedio; mientras que en invierno se obtuvieron entre 9,38 y 11,62 t/ha, excepto en M. oleifera (5,49 t/ha. Los intervalos de corte variaron entre 62 y 65 días en verano; mientras que en invierno aumentaron hasta 102 y 117 días en G. sepium y M. oleifera, respectivamente, y oscilaron entre 81 y 92 días para el resto de las especies. El porcentaje de hojas fue superior en invierno y en ello sobresalió S. siamea (62 y 69 % en verano e invierno, respectivamente. Durante el invierno se obtuvo una alta producción de MS, en lo cual se destacaron G. sepium, M. alba y S. siamea (47-50 %. Se confirmó el buen comportamiento de estas especies arbóreas y arbustivas en condiciones semiáridas, con rendimientos de MS superiores a 12 t/ha y una producción estable durante el año. Se recomienda incluirlas en investigaciones con animales en sistemas silvopastoriles y bancos de proteína; así como utilizar otros marcos de siembra en función de mejorar su potencial productivo

A educação especial nas escolas em áreas remanescentes de quilombos: a realidade mostrada pelos indicadores educacionais

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Juliana Vechetti Mantovani

2017-08-01

 Datos revelan que es reciente la preocupación por la educación especial en quilombos. Sin embargo, la Fundación Cultural Palmares señala cifras crecientes de regularización de tierras quilombolas en todo el território nacional, lo que fortalece el debate sobre las escuelas ubicadas en esas comunidades. En este estudio, se buscó mapear las regiones de Brasil em las que hay escuelas situadas en áreas remanentes de quilombos, observar sus características y verificar cuáles de ellas cuentan con la educación especial para alumnos, miembros de las comunidades con discapacidad,altas habilidades y trastornos globales del desarrollo, público objetivo de la educación especial. Por lo tanto, se realizó un trabajo con indicadores educativos del año 2015. La selección de este período se justifica en el hecho de que estos son los datos más actualizados sobre la temática em estudio. Para la lectura y el tratamiento estadístico de los microdatos de Educación Básica, se utilizó el software IBM SPSS, Statistical Package for the Social Sciences. En los microdatos del censo escolar se analizaron los datos de las escuelas según la localización diferenciada, área remanente de quilombo en la enseñanza regular, en la educación especial y atención educativa especializada, uno de los servicios de la educación especial. Además de esto, se registraron datos específi cos sobre caracterización e infraestructura de las escuelas. Los resultados muestran que hay alumnos con discapacidades en las escuelas ubicadas en área remanente de quilombo intentando escolarizarse y que, en condiciones adversas, lãs escuelas vienen buscando cumplir su papel. Hay escuelas que ofrecen la atención educativa especializada, sin embargo, sigue siendo una minoría.  Palabras clave: Educación Especial. Área Restante de Quilombo. Escuela.

Cultivos celulares primarios de Lutzomyia shannoni (Diptera: psychodidae y estudio cariologico preliminar de la especie

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Felio J. Bello

1997-03-01

Full Text Available Con el propósito de obtener una línea celular de Lutzomyia shannoni (Dyar para estudios de susceptibilidad viral y mantenimiento de parásitos, se iniciaron cultivos celulares primarios de esta especie, vectora del virus de la estomatitis vesicular en los Estados Unidos y vectora sospechosa de leishmaniasis cutánea en las Américas. A partir de embriones y larvas neonatas del flebotomineo, se realizaron explantes de tejidos embrionarios en el medio MMIVP12, suplementado con 20% de suero fetal bovino y una mezcla de antibiótico y antimicótico, los cuales fueron incubados a una temperatura promedio de 2VC, sin atmósfera de CO,. El crecimiento celular comenzó en un periodo de 85 a 88 días después de efectuadas las siembras, mediante la presencia de vesículas compuestas de células epitelioides, flotando en el medio o adheridas a pequeños fragmentos de tejidos con células en división. Previa estimulación mecánica de los cultivos, se incrementó la proliferación celular a la semana siguiente de efectuado el procedimiento; sin embargo, el proceso mitótico de las células fue lento, similar al desarrollado con Lu. longipalpis, pero diferente a los cultivos celulares derivados de mosquitos. La formación de colonias individuales, dispersas en la superficie del frasco de cultivo, se observó a los 90 días de incubación, las cuales posteriormente evolucionaron a una monocapa semiconfluente. La morfología celular fue heterogénea con predominio de tipos epitelioides. Mediante la técnica de squash, se obtuvo el cariotipo de la especie, cuyo número diploide de cromosomas fue de 8, derivados de tejidos cerebrales de larvas de IV estadio.

BOMBACACEAE NEOTROPICAE NOVAE VEL MINUS COGNITAE IX. UNA NUEVA ESPECIE DE MATISIA BONPL. DEL CHOCÓ BIOGEOGRÁFICO

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Fernandez José

2011-12-01

Full Text Available Como parte de la revisión de las especies de la sección Calyculatae del género Matisia Bonpl. (Malvaceae - Matisieae que actualmente se adelanta, se describe e ilustra aquí Matisia pacifica, una especie nueva circunscrita a la región del Chocó Biogeográfico. Se incluye también la descripción ampliada de la especie M. bracteolosa Ducke s. str. cuya distribución se restringe a la cuenca amazónica. Se comenta su relación y posibles afinidades con la especie nueva que se describe.

Peumus boldus (Monimiaceae, Magnoliopsida) una especie silvestre promisoria de Chile

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San Martín Acebedo, José; Doll, Ursula

1998-01-01

Se organiza y sintetiza la información relacionada con la botánica, ecología y el contenido químico de extraíbles de hojas, corteza y madera de Peumus boldus (Monimiaceae, Magnoliopsida), árbol siempreverde, autóctono, endémico y termófilo de los bosques y matorrales esclerófilos naturales del área mediterránea de Chile. La popularidad y conocimiento de la especie tiene arraigo en la medicina popular empírica, dado el efecto farmacológico atribuible fundamentalmente, al alcaloide boldina, pre...

Descripción de una especie nueva de Meloe Linnaeus, 1758 del subgénero Eurymeloe Reitter, 1911 (Coleoptera, Meloidae del norte de Marruecos

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García-París, M.

2009-12-01

Full Text Available We describe a new species of Meloe (Coleoptera: Meloidae, subgenus Eurymeloe, included in the M. rugosus species group, related to species of the M. murinus subgroup. The specimens of the new species studied were found along the western Rif mountain chain (Talassemtane National Park in northwestern Morocco, and were located in hiperhumid montane forest habitats. The new species is characterized by having: a dull black coloration with greyish hue; a very short, curved, and not dense, yellow-whitish pilosity, which does not form tufts; a subrectangular transverse pronotum with a marked median grove and two longitudinal lateral depressions; head and pronotum punctures well impressed and subconfluent; elytra sligtly rugose; tarsomeres with slightly developed ventral pads; aedeagus with curved parameres, laterally depressed, apically pointed, with the distal ventral hook of median lobe close to apex. The new taxon es phenetically similar to M. nanus, M. baudueri and M. flavicomus, but distinguished from all of them by the mentioned morphological external and male genitalia characters. The distribution of the new species, only known from its type locality, overlaps those of M. murinus, M. nanus and possibly M. baudueri, but so far it has not been found in strict sympatry with any of them. The habitat type inhabited by the new species, mountain areas with mixed forests of Pinus pinaster hamiltonii var. maghrebiana, P. nigra mauritanica and Abies maroccana (endemic taxa of the limestone northwestern Rif mountain chain, contrasts with other habitat types recorded for species of the M. (E. murinus species subgroup of the subgenus Eurymeloe.Se describe una especie nueva de Meloe (Coleoptera: Meloidae del subgénero Eurymeloe, del grupo de M. rugosus, relacionada con especies del subgrupo de M. murinus. Los ejemplares estudiados de la especie nueva proceden del Rif occidental (Parque Nacional de Talassemtane, dorsal caliza rifeña, en el noroeste de

Estudio de la biología trófica de cinco especies de peces bentónicos de la costa de Cullera. Relaciones con la acumulación de metales pesados

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JARAMILLO LONDOÑO, ÁNGELA MARÍA

2010-01-01

Los estudios acerca de la ecología trófica de los peces, en los cuales se relacionan la biología y fisiología de las especies con su hábitat, régimen alimentario, tipo de dieta y relaciones bióticas, aportan información básica y necesaria para comprender el papel ecológico que desempeñan estos organismos dentro del ecosistema que habitan, y por lo tanto para establecer protocolos de gestión de sus poblaciones. Esta tesis aporta un mayor conocimiento de la biología, fenología y hábitos alim...

Identificación y fluctuación poblacional de especies de trips (Thysanoptera en aguacate 'hass' en Nayarit, México

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M. A. Urías-López

2007-01-01

Full Text Available Este estudio se realizó del año 2004 al 2006 en La Yerba (Tepic y Emiliano Zapata (Xalisco Nayarit, México. Los objetivos fueron conocer las especies de trips de inflorescencias y hojas, la dinámica poblacional en follaje y la incidencia en el follaje de árboles tratados con diferentes niveles de fertilización. Los trips fueron de las familias: Aeolthripidae (tres especies, Phlaeothripidae (dos especies y Thripidae (una especie. Se registran por primera vez en aguacate para Nayarit los trips depredadores; Erythrothrips durango, Franklinothrips vespiformis y Leptothrips mcconelli, junto con Pseudophilothrips perseae (fitófago. En La Yerba, la población más alta del complejo de trips (2.09 trips·hoja-1 ocurrió en junio; en E. Zapata, ésta se registró en julio (4.10 trips·hoja-1. Las poblaciones más altas de trips ocurrieron durante periodos de floración y crecimiento vegetativo, y más bajas durante los meses de lluvia de verano. Las poblaciones de trips fueron 60 % más altas en E. Zapata que en La Yerba. No se detectó mayor población de trips en árboles con fertilización control, respecto a los de fertilización balanceada.