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1.
Quintessence Int ; 52(2): 166-174, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33433082

RESUMO

Ehlers-Danlos syndromes (EDS) are a group of diverse hereditary connective tissue disorders. Various EDS subtypes present as different diseases. Periodontitis of early onset is a major criterion of periodontal EDS (pEDS). This article reports the clinical case of two siblings, young adults, who came to the clinic for diagnosis and treatment of periodontal disease. The patients had already been diagnosed with pEDS several months earlier after being referred for genetic testing by a dermatologist. It should be noted that in these siblings pEDS had been misinterpreted for years by health care specialists despite the patients' periodontal disease, which had appeared at the age of 3 years. The subsequent effects of periodontal disease in these patients jeopardized the survival prognosis of their teeth. It may be stated that, in spite of pEDS's status as a rare syndrome, the dental practitioner can play a key role in the early diagnosis by responding appropriately to periodontal manifestations at early stages. (Quintessence Int 2021;52:166-174; doi: 10.3290/j.qi.a45263)

.


Assuntos
Síndrome de Ehlers-Danlos , Irmãos , Odontólogos , Diagnóstico Precoce , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Humanos , Papel Profissional
3.
Vasc Endovascular Surg ; 54(8): 760-764, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32787686

RESUMO

True aneurysms of the anterior tibial artery are rare with less than 20 published reports in the literature. We report an urgent endovascular repair of a true anterior tibial artery aneurysm in a patient with Ehlers-Danlos type IV, vascular type. This approach resulted in an uneventful recovery without the elevated risks associated with open vascular repair in the setting of connective tissue disorder. Continuous follow-up in the subsequent 4 years has demonstrated durability and efficacy of the original intervention.


Assuntos
Aneurisma/terapia , Síndrome de Ehlers-Danlos/complicações , Embolização Terapêutica/instrumentação , Artérias da Tíbia , Adulto , Aneurisma/diagnóstico por imagem , Aneurisma/etiologia , Síndrome de Ehlers-Danlos/diagnóstico , Humanos , Masculino , Artérias da Tíbia/diagnóstico por imagem , Resultado do Tratamento
4.
Vasc Endovascular Surg ; 54(8): 676-680, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32729398

RESUMO

OBJECTIVES: Thoracic endovascular aortic repair (TEVAR) remains controversial in patients with connective tissue disorders given the concern for durability. We report on the largest series to date on outcomes of patients with thoracic aortic disease and connective tissue disorders treated with TEVAR. METHODS: The Vascular Quality Initiative registry identified 12 207 patients treated with TEVAR from January 2010 to December 2018, including 102 with Marfans, Ehlers-Danlos, or Loey-Dietz syndrome. Outcomes were analyzed per the Society for Vascular Surgery reporting standards. RESULTS: Median age was 50.6 years (interquartile range: 57.0-75.0), and 62 (60.7%) were male. Eighty-eight (86.3%) patients had Marfan, 9 (8.8%) had Ehlers-Danlos, and 5 (4.9%) had Loey-Dietz syndrome. Twenty-six (25.5%) patients were treated for degenerative aneurysmal disease and 76 (74.5%) patients for type B dissections (33 acute, 31 chronic). Most common indications for interventions in patients with type B dissection were pain (n = 41), aneurysmal degeneration (n = 16), and malperfusion (n = 8), with 3 patients who presented ruptured. There was no significant difference in perioperative complications between acute/chronic dissections and aneurysms (P = .14). Percutaneous access was utilized in 61.7% of patients, with a 2.9% rate of arterial injury requiring reintervention. Follow-up data were available for 75 (73.3%) patients at a mean follow-up of 15.6 months. Overall mortality was 5.3%. There were 30 patients with follow-up endoleak data, and 8 (26.7%) endoleaks were identified. All endoleaks were in patients treated for acute type B dissection, and all resolved after a mean of 2.1 reinterventions. Three patients treated for acute Type B Aortic Dissection (TBAD) had retrograde dissections requiring intervention. DISCUSSION: Thoracic endovascular aortic repair for patients with connective tissue disorders can be performed with low perioperative mortality, spinal cord ischemia, or Cerebrovascular Accident (CVA). On follow-up, acute type B aortic dissections represent a higher risk subgroup with increased rates of endoleak and retrograde dissection. Closer follow-up for these patients and early reintervention may be beneficial.


Assuntos
Aneurisma Dissecante/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Ruptura Aórtica/cirurgia , Implante de Prótese Vascular , Síndrome de Ehlers-Danlos/complicações , Procedimentos Endovasculares , Síndrome de Loeys-Dietz/complicações , Síndrome de Marfan/complicações , Adulto , Idoso , Aneurisma Dissecante/diagnóstico por imagem , Aneurisma Dissecante/etiologia , Aneurisma Dissecante/mortalidade , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/etiologia , Aneurisma da Aorta Torácica/mortalidade , Ruptura Aórtica/diagnóstico por imagem , Ruptura Aórtica/etiologia , Ruptura Aórtica/mortalidade , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/instrumentação , Implante de Prótese Vascular/mortalidade , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/mortalidade , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Procedimentos Endovasculares/mortalidade , Feminino , Humanos , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/mortalidade , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/mortalidade , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
5.
Pain Physician ; 23(4): 429-438, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32709178

RESUMO

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a multifaceted disease that can present with a variety of types of pain. Unfortunately, both the mechanisms and treatments for pain are poorly understood. The proposed treatments for the various musculoskeletal pain syndromes in EDS have had variable success, and it becomes much more imperative to better define and evaluate the current treatment modalities in treating this debilitating disease. OBJECTIVES: The purpose of this study was to investigate the currently available treatment modalities for patients with EDS and their efficacies in pain and symptom relief. STUDY DESIGN: Retrospective cohort study. SETTING: Institutional physical medicine and rehabilitation primary care clinic. METHODS: All patients were seen between January 2015 and April 2019, in which 98 patients with EDS were identified through retrospective chart review. Institutional review board approval was obtained, and all patients provided written consent to be included in the study. We reviewed various treatment modalities, including complimentary/alternative treatments, opioids/opioid-like medications, nonsteroidal antiinflammatory drugs, physical therapy, occupational therapy, muscle relaxants, neuropathic modulators, steroids, surgery/procedures, and acetaminophen. Treatment methods were extracted from individual patient charts, and efficacy was grouped into 3 categories: improvement, no effect, or worsened symptoms. RESULTS: The most common treatments used were complimentary/alternative treatments (n = 88). Occupational therapy and bracing were the most effective options with 70% of patients reporting improvement. Neuropathic modulators were the least well tolerated with 47% of patients reporting adverse effects. LIMITATIONS: Men were a small percentage of the study. Patients were not randomized, and pain score reporting was subjective. Patient data were extracted from a single practice setting. Timing and symptom onset were not measured. CONCLUSIONS: There is a relative paucity of published literature regarding the various treatment methods for EDS. Although our study is able to identify positive and negative trends with certain modalities, it is vital to understand that EDS is not a uniform diagnosis among patients, and that a combination of several different treatments usually is needed for optimal symptom control. Further research and investigation are necessary to develop a comprehensive treatment database for this complex condition. KEY WORDS: Ehlers-Danlos syndrome, pain, hypermobility, arthralgia, subluxation, genetic, physical therapy, interventional pain.


Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Dor Musculoesquelética/diagnóstico , Dor Musculoesquelética/terapia , Adolescente , Adulto , Idoso , Analgésicos Opioides/administração & dosagem , Anti-Inflamatórios não Esteroides/administração & dosagem , Artralgia/diagnóstico , Artralgia/terapia , Estudos de Coortes , Terapias Complementares/métodos , Terapias Complementares/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Relaxantes Musculares Centrais/administração & dosagem , Modalidades de Fisioterapia/tendências , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
6.
Vascular ; 28(6): 834-841, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32423364

RESUMO

OBJECTIVES: Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. METHODS: The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. RESULTS: There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair (p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days (p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). CONCLUSIONS: Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.


Assuntos
Doenças da Aorta/cirurgia , Síndrome de Ehlers-Danlos/complicações , Procedimentos Endovasculares/tendências , Síndrome de Marfan/complicações , Procedimentos Cirúrgicos Vasculares/tendências , Idoso , Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/economia , Doenças da Aorta/etiologia , Bases de Dados Factuais , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/economia , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/economia , Feminino , Custos Hospitalares/tendências , Humanos , Pacientes Internados , Tempo de Internação , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/economia , Pessoa de Meia-Idade , Complicações Pós-Operatórias/terapia , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Estados Unidos , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Procedimentos Cirúrgicos Vasculares/economia
7.
J Korean Med Sci ; 35(10): e96, 2020 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-32174067

RESUMO

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene PLOD1. We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases.


Assuntos
Síndrome de Ehlers-Danlos/genética , Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/genética , Síndrome de Ehlers-Danlos/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , República da Coreia , Irmãos
8.
BMJ Case Rep ; 13(2)2020 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-32024714

RESUMO

Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.


Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/etiologia , Enurese Noturna/etiologia , Criança , Colágeno Tipo V/genética , Síndrome de Ehlers-Danlos/complicações , Humanos , Masculino
9.
Clin Rheumatol ; 39(3): 715-725, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31955324

RESUMO

Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are heritable connective tissue disorders associated with pain, activity limitations and participation restrictions. A key feature is reported to be reduced stiffness and increased extensibility and elasticity of connective tissues. Yet diagnosis relies on assessment of joint range of motion, which may be influenced by other factors, and semi-quantitative assessment of forearm skin extensibility. The objective of this systematic review was to determine if quantitative measures of tissue mechanics can discriminate between hEDS/HSD and healthy tissues. Literature was identified via online databases (AMED, CINAHL+, EMBASE, MEDLINE and SportDiscus) and snowballing. Studies were included if participants had a confirmed diagnosis of hEDS/HSD (or equivalent diagnosis) using internationally recognised criteria, a healthy control group was used as a comparator, and objective measures of tissue stiffness, extensibility or elasticity of muscle, tendon, connective tissue or skin were reported. Included studies were critically appraised, followed by group discussion, consensus and narrative synthesis. Two hundred three potentially relevant studies were identified. Application of the inclusion criteria resulted in four studies being included. A range of quantitative approaches to studying tissue mechanics were used, including diagnostic ultrasound. Overall, three of the four studies found that at least one measure of tissue mechanics distinguished between people with hEDS/HSD and healthy controls. The studies were generally conducted and reported to high standards. Quantitative measures of tissue mechanics have the potential to contribute towards more objective diagnosis of hEDS/HSD. Further validation, particularly within diagnostic scenarios, is required.


Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/diagnóstico , Elasticidade , Humanos , Instabilidade Articular/congênito , Doenças Musculares/diagnóstico , Amplitude de Movimento Articular , Ultrassonografia
11.
J Vasc Surg ; 71(1): 149-157, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31353273

RESUMO

OBJECTIVE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. METHODS: This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The institutions were recruited through the Vascular Low Frequency Disease Consortium. Individuals were identified using the International Classification of Diseases-9 and 10-CM codes for EDS (756.83 and Q79.6). A review of records was then performed to select individuals with vEDS. Data abstraction included demographics, family history, clinical features, major and minor diagnostic criteria, and molecular testing results. Individuals were classified into two cohorts and then compared: those with pathogenic COL3A1 variants and those diagnosed by clinical criteria alone without molecular confirmation. RESULTS: Eleven institutions identified 173 individuals (35.3% male, 56.6% Caucasian) with vEDS. Of those, 11 (9.8%) had nonpathogenic alterations in COL3A1 and were excluded from the analysis. Among the remaining individuals, 86 (47.7% male, 68% Caucasian, 48.8% positive family history) had pathogenic COL3A1 variants and 76 (19.7% male, 19.7% Caucasian, 43.4% positive family history) were diagnosed by clinical criteria alone without molecular confirmation. Compared with the cohort with pathogenic COL3A1 variants, the clinical diagnosis only cohort had a higher number of females (80.3% vs 52.3%; P < .001), mitral valve prolapse (10.5% vs 1.2%; P = .009), and joint hypermobility (68.4% vs 40.7%; P < .001). Additionally, they had a lower frequency of easy bruising (23.7% vs 64%; P < .001), thin translucent skin (17.1% vs 48.8%; P < .001), intestinal perforation (3.9% vs 16.3%; P = .01), spontaneous pneumothorax/hemothorax (3.9% vs 14%, P.03), and arterial rupture (9.2% vs 17.4%; P = .13). There were no differences in mortality or age of mortality between the two cohorts. CONCLUSIONS: This study highlights the importance of confirming vEDS diagnosis by testing for pathogenic COL3A1 variants rather than relying on clinical diagnostic criteria alone given the high degree of overlap with other forms genetically triggered arteriopathies. Because not all COL3A1 variants are pathogenic, the interpretation of the genetic testing results by an individual trained in variant assessment is essential to confirm the diagnosis. An accurate diagnosis is critical and has serious implications for lifelong screening and treatment strategies for the affected individual and family members.


Assuntos
Colágeno Tipo III/genética , Análise Mutacional de DNA , Síndrome de Ehlers-Danlos/diagnóstico , Mutação , Adolescente , Adulto , Estudos Transversais , Diagnóstico Diferencial , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/genética , Feminino , Predisposição Genética para Doença , Alemanha , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Estados Unidos , Adulto Jovem
12.
Ann Vasc Surg ; 62: 326-334, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31449940

RESUMO

BACKGROUND: Patient-centered research requires active engagement of patients. The vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established to ascertain patient-centered vEDS research priorities and to engage affected individuals as research partners. Evaluation of access to information and interest in research among individuals with vEDS was the first step undertaken as part of this work. METHODS: A 28-question survey was created to evaluate 4 domains of interest: diagnostic and clinical care history, vEDS experience, information resources, and willingness to collaborate with researchers. The survey was created in REDCap™ and disseminated between January and April 2018 via the vEDS social media pages, blogs, and advocacy Web sites. Results were collated and described. A single open-ended question yielded additional narrative data, which were analyzed qualitatively. RESULTS: Of the 300 responses, 228 (76%) were completed on behalf of oneself. The vEDS diagnosis was confirmed by genetic testing for 85% of respondents. When asked "Did a physician explain vEDS to you and how to manage it?" 25% answered no. Most had a primary care provider (65%), cardiologist (56%), and vascular surgeon (52%). Only 32% had a local vascular surgeon. The most commonly reported frustration was no cure/treatment available and the emergency rooms do not know what VEDS is (64.5% and 61.8%, respectively). The Internet was the most useful information source (62.3%) followed by a geneticist (18.4%). Most (87.7%) are willing to share their medical records for research studies (87.7%) and wished to be contacted about future studies (83.8%); however, only 65.4% would be willing to upload medical records via a secure confidential Web application. The most common reason for interest in research partnership was to advance research for a treatment/cure (83.8%) and helping others learn from their experiences (82.9%). The qualitative analysis provided additional insights into the patient experience living with vEDS. CONCLUSIONS: Among individuals with vEDS, there is substantial frustration with the lack of treatment, lack of knowledge among health care providers, and a high degree of interest in research involvement. The survey highlights an opportunity to discuss the optimal modality for research participation and methodologies for building trust in the research teams. The methodology lessons learned can also be applied to other rare vascular diseases.


Assuntos
Acesso à Informação , Pesquisa Biomédica , Comportamento Cooperativo , Síndrome de Ehlers-Danlos , Conhecimentos, Atitudes e Prática em Saúde , Participação do Paciente , Altruísmo , Atitude do Pessoal de Saúde , Efeitos Psicossociais da Doença , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/psicologia , Síndrome de Ehlers-Danlos/terapia , Comunicação em Saúde , Humanos , Motivação , Relações Médico-Paciente , Qualidade de Vida , Inquéritos e Questionários
13.
Eur J Med Genet ; 63(2): 103730, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31323331

RESUMO

The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.Arg312Cys mutation in COL1A1 have been reported with overlapping features of both cEDS and vascular EDS (vEDS). In this report, we describe two patients from a large family with this mutation and clinical features consistent with cEDS without vascular complications. The proband presented with congenital hip dislocation (previously reported in one patient), the mother of the proband with multiple fractures in childhood, and dental defects (novel findings). The small number of patients reported with this mutation and proportion with vascular complications suggests that vascular surveillance should still be recommended.


Assuntos
Colágeno Tipo I/genética , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Adolescente , Adulto , Osso e Ossos/patologia , Síndrome de Ehlers-Danlos/diagnóstico por imagem , Feminino , Fraturas Ósseas/genética , Humanos , Mutação , Linhagem , Fenótipo , Anormalidades da Pele/genética
14.
BMJ Case Rep ; 12(11)2019 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-31791984

RESUMO

We report a case of a 35-year-old woman found to have vascular Ehlers-Danlos syndrome (vEDS) after family history of sudden death due to aortic dissection in her otherwise healthy brother prompted further imaging workup and consideration of an underlying heritable genetic condition. CT angiogram of the aorta with intravenous contrast revealed an abdominal aortic artery dissection below the level of the renal arteries extending from the bifurcation into the left common iliac artery with an additional focal dissection of the right common iliac artery. To the author's knowledge, this is the first report of asymptomatic bilateral common iliac artery dissections as a part of the initial presentation of a patient with underlying vEDS. Additionally, this case highlights the importance of familial diagnostic screening in inherited vasculopathies. Clinical history, genetic testing and management are discussed.


Assuntos
Aneurisma Dissecante/diagnóstico , Aneurisma da Aorta Abdominal/diagnóstico , Síndrome de Ehlers-Danlos/diagnóstico , Artéria Ilíaca , Adulto , Aneurisma Dissecante/genética , Aneurisma da Aorta Abdominal/genética , Diagnóstico Diferencial , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/genética , Feminino , Humanos
15.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 39(4): 173-181, oct.-dic. 2019. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-191300

RESUMO

Introducción: La hiperlaxitud articular es un síndrome frecuente en niños y mujeres; sus repercusiones en el sistema musculoesquelético son variadas y cursan con distintos grados de severidad. Sus consecuencias en la función vocal han sido estudiadas escasamente impidiendo así, muchas veces, su óptimo abordaje clínico. Objetivo: Describir el comportamiento vocal de mujeres con síndrome de hiperlaxitud articular. Material y método: Se estudió a una muestra de 40 mujeres con diagnóstico médico de síndrome de hiperlaxitud articular. La evaluación se llevó a cabo utilizando videolaringoestroboscopia, electroglotografía, análisis acústico, pruebas de intensidad y de sobrecarga vocal. Resultados: En la videolaringoestroboscopia se pudo evidenciar menor desarrollo muscular, asimetría vibratoria y desbalance aritenoideo. En la electroglotografía el CQ de la muestra fue de 0.4+/-0.05. La intensidad máxima promedio fue de 85.8+/-6.2dB y el tiempo máximo fonatorio, de 11.8+/-3.1s. En las tareas de sobrecarga la muestra presentó rápida fatigabilidad. Conclusiones: El comportamiento vocal de los sujetos que presentan síndrome de hiperlaxitud articular expresa insuficiencia glótica, debido a la falta de resistencia muscular de los pliegues vocales


Introduction: Joint hypermobility is a frequent syndrome in children and women, its impact on the musculoskeletal system are diverse and occur with different degrees of severity. Its consequences on vocal function have been studied sparingly, often preventing its optimal clinical approach. Objective: To describe the vocal behaviour of women with joint hypermobility syndrome. Material and method: A sample of 40 women with a medical diagnosis of joint hypermobility syndrome was studied. The assessment was carried out using video laryngeal stroboscopy, electroglottography, acoustic analysis, intensity and vocal overload tests. Results: In video laryngeal stroboscopy it was possible to demonstrate less muscle development, vibratory asymmetry and arytenoid imbalance. In the electroglottography, the CQ of the sample was 0.4+/-0.05. The average maximum intensity was 85.8+/-6.2dB and the maximum phonatory time was 11.8+/-3.1s. In the tasks of the overload the sample showed rapid fatigability. Conclusions: The vocal behaviour of the subjects suffering from joint hypermobility syndrome implies glottic insufficiency, due to a lack of muscular development of the vocal folds


Assuntos
Humanos , Feminino , Adulto Jovem , Adulto , Instabilidade Articular/complicações , Distúrbios da Voz/diagnóstico , Laringoscopia/métodos , Estroboscopia/métodos , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/epidemiologia , Treinamento da Voz , Laringoscopia/estatística & dados numéricos , Disfunção da Prega Vocal/epidemiologia , Glote/fisiopatologia
16.
Reumatol. clín. (Barc.) ; 15(6): e128-e129, nov.-dic. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-189671

RESUMO

El síndrome de Ehlers-Danlos de tipo vascular (SED IV) se trata de una rara alteración genética causada por una alteración del gen COL3A1 que codifica el colágeno tipo III. Este es el tipo de colágeno más frecuente en los vasos de mediano calibre y en algunos órganos como intestino y útero. Su alteración produce, entre otros, aneurismas y roturas de vasos y órganos. Para su diagnóstico se requiere de un alto nivel de sospecha clínica. Se trata de una enfermedad de manejo complejo que requiere de un equipo multidisciplinar para tratar las diferentes complicaciones que pueden acontecer. Se presenta el caso de un paciente varón de 50 años diagnosticado de SED IV de forma incidental tras hemotórax secundario a acceso de tos


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


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Ehlers-Danlos/complicações , Hemotórax/etiologia , Síndrome de Ehlers-Danlos/diagnóstico , Achados Incidentais
17.
Genes (Basel) ; 10(10)2019 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-31614862

RESUMO

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis.


Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Galactosiltransferases/genética , Células Cultivadas , Criança , Pré-Escolar , Síndrome de Ehlers-Danlos/patologia , Humanos , Instabilidade Articular/genética , Masculino , Hipotonia Muscular/genética , Mutação , Osteocondrodisplasias/genética , Fenótipo
18.
Am Surg ; 85(10): 1162-1165, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31657316

RESUMO

The risk factors and associated conditions of median arcuate ligament syndrome (MALS) have not been well characterized in the literature. In this study, we aim to investigate the presentation and outcomes of MALS patients with an emphasis on the prevalence of other uncommon disorders. To this end, data of patients with MALS who underwent surgery between 2013 and 2018 were collected and compiled into a retrospective database and analyzed. Eleven patients were identified. Seven of these eleven patients underwent diagnostics to evaluate gastric emptying. Five of these seven patients (71.4%) had radiographic evidence of delayed gastric emptying. Four of the eleven patients (36.4%) were found to have anatomic abnormalities of their visceral vasculature. Two of the eleven patients (18.2%) were found to have connective tissue disorders, both with Ehlers-Danlos syndrome. Three of the eleven (27.3%) had a diagnosis of postural orthostatic tachycardia syndrome. This is the first case series reporting on an association between MALS and delayed gastric emptying. We also explored the relationship between MALS and visceral vascular abnormalities, Ehlers-Danlos syndrome, and postural orthostatic tachycardia syndrome. It is notable that these conditions are more prevalent in the MALS population than in the general population, suggesting a possible pathophysiologic relationship.


Assuntos
Síndrome de Ehlers-Danlos/complicações , Esvaziamento Gástrico , Gastroparesia/complicações , Síndrome do Ligamento Arqueado Mediano/complicações , Síndrome do Ligamento Arqueado Mediano/fisiopatologia , Síndrome da Taquicardia Postural Ortostática/complicações , Adulto , Índice de Massa Corporal , Diagnóstico Diferencial , Síndrome de Ehlers-Danlos/diagnóstico , Feminino , Gastroparesia/diagnóstico , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Síndrome do Ligamento Arqueado Mediano/diagnóstico , Síndrome do Ligamento Arqueado Mediano/cirurgia , Cuidados Pré-Operatórios , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Vísceras/irrigação sanguínea
19.
Med Clin North Am ; 103(6): 1021-1033, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582002

RESUMO

Joint hypermobility may be syndromic or nonsyndromic, asymptomatic or symptomatic. However, asymptomatic joint hypermobility can cause repetitive use injury, alter biomechanics, or become symptomatic later in life. Symptomatic joint hypermobility can result from soft tissue injury or muscular strain caused by muscular imbalance. Treatment is straightforward once joint hypermobility is recognized. Generalized joint hypermobility can be assessed using a standardized in-office examination. Generalized joint hypermobility may also be a feature of a heritable connective tissue disorder with other systemic findings. Therefore, assessing joint hypermobility in the context of musculoskeletal complaints may lead to recognizing systemic manifestations and allow treatment accordingly.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Síndrome de Ehlers-Danlos/classificação , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Instabilidade Articular/etiologia , Instabilidade Articular/fisiopatologia , Instabilidade Articular/terapia , Administração dos Cuidados ao Paciente/métodos
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