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1.
Auton Neurosci ; 224: 102637, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31954224

RESUMO

Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS. An additional 24% of participants had generalized joint hypermobility without meeting hEDS criteria. Identifying the prevalence of hEDS in POTS is important for understanding possible mechanisms connecting these two syndromes.

2.
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
4.
Breast Cancer Res Treat ; 177(1): 127-136, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31165374

RESUMO

PURPOSE: Family is often overlooked in cancer care. We developed a patient-family agenda setting intervention to engage family in cancer care communication. METHODS: We conducted a pilot randomized controlled trial (NCT03283553) of patients on active treatment for breast cancer and their family "care partner." Intervention dyads (n = 69) completed a self-administered checklist to clarify care partner roles, establish a shared visit agenda, and facilitate MyChart patient portal access. Control dyads (n = 63) received usual care. We assessed intervention acceptability and initial effects from post-visit surveys and MyChart utilization at 6 weeks. RESULTS: At baseline, most patients (89.4%) but few care partners (1.5%) were registered for MyChart. Most patients (79.4%) wanted their care partner to have access to their records and 39.4% of care partners reported accessing MyChart. In completing the checklist, patients and care partners endorsed active communication roles for the care partner and identified a similar visit agenda: most (> 90%) reported the checklist was easy, useful, and recommended it to others. At 6 weeks, intervention (vs control) care partners were more likely to be registered for MyChart (75.4% vs 1.6%; p < 0.001), to have logged in (43.5% vs 0%; p < 0.001) and viewed clinical notes (30.4% vs 0%; p < 0.001), but were no more likely to exchange direct messages with clinicians (1.5% vs 0%; p = 0.175). No differences in patients' MyChart use were observed, but intervention patients more often viewed clinical notes (50.7% vs 9.5%; p < 0.001). CONCLUSIONS: A patient-family agenda setting intervention was acceptable and affected online practices of cancer patients and care partners.


Assuntos
Neoplasias da Mama/epidemiologia , Cuidadores , Assistência ao Paciente , Adulto , Idoso , Comunicação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde , Relações Médico-Paciente , Fatores de Tempo
5.
Am J Hum Genet ; 104(4): 578-595, 2019 04 04.
Artigo em Inglês | MEDLINE | ID: mdl-30951675

RESUMO

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

6.
Genet Med ; 21(3): 727-735, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-29976988

RESUMO

PURPOSE: In response to genetic testing being widely ordered by nongenetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org ) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians. METHODS: We present results of a formative survey of 66 genetics clinicians to assess the consent rubric for nine genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N = 18), nongenetics specialists (N = 27), and genetics clinicians (N = 32) on both rubrics. RESULTS: Formative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a "typical" patient. CONCLUSION: We propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.


Assuntos
Revelação/ética , Aconselhamento Genético/métodos , Pessoal de Saúde/educação , Adulto , Competência Clínica , Comunicação , Confidencialidade , Tomada de Decisões/ética , Feminino , Aconselhamento Genético/normas , Testes Genéticos/ética , Genética/educação , Humanos , Consentimento Livre e Esclarecido/normas , Linguagem , Masculino , Estudantes
7.
J Genet Couns ; 26(4): 728-737, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27832510

RESUMO

Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men with XXY face to effectively address their medical and psychosocial needs. The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult. Individuals aged 14 to 75 years with self-reported XXY were recruited from online support networks to complete a web-based survey that included open-ended questions. Open-ended responses were coded and analyzed thematically (n = 169 to 210 for each open-ended question). Over half of respondents to the open-ended questions reported challenges in finding health care providers who are knowledgeable about XXY, with many describing an extensive diagnostic odyssey and relief when receiving a diagnosis. Individuals sought support coping with the challenges they face and acknowledgement of the positive aspects of XXY. Recommendations are made for how genetic counseling can enhance quality of life for individuals living with XXY.


Assuntos
Aconselhamento Genético/psicologia , Síndrome de Klinefelter/psicologia , Qualidade de Vida/psicologia , Adolescente , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Adulto Jovem
8.
Am J Hum Genet ; 97(1): 6-21, 2015 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-26140447

RESUMO

In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children and adolescents. In the past 20 years, much has changed in the field of genetics, including the development of powerful new technologies, new data from genetic research on children and adolescents, and substantial clinical experience. This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children. These recommendations are relevant to families, clinicians, and investigators. After a brief review of the 1995 statement and major changes in genetic technologies in recent years, this statement offers points to consider on a broad range of test technologies and their applications in clinical medicine and research. Recommendations are also made for record and communication issues in this domain and for professional education.


Assuntos
Testes Genéticos/ética , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/tendências , Genética/história , Genômica/métodos , Consentimento Informado por Menores/psicologia , Adolescente , Criança , Triagem de Portadores Genéticos , Genômica/ética , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Análise em Microsséries/métodos , Análise em Microsséries/tendências , Farmacogenética/métodos
9.
Patient Educ Couns ; 98(1): 90-5, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25239793

RESUMO

OBJECTIVE: The purpose of this study was to understand the impact of living with Klinefelter syndrome (XXY) as an adolescent or an adult and to examine the factors that contribute to adaptation. METHODS: Individuals (n = 310) aged 14-75 years with self-reported XXY were recruited from online support networks to complete a self-administered survey. Perceived consequences, perceived severity, perceived stigma, and coping were measured and evaluated as correlates of adaptation. RESULTS: The use of problem-focused coping strategies was positively correlated with adaptation (p < 0.01) and age was negatively correlated with adaptation (p < 0.05). CONCLUSION: The majority of participants reported significant negative consequences of XXY, including infertility, psychological co-morbidities and differences in appearance. How participants coped with their negative appraisals was the greatest predictor of adaptation. PRACTICE IMPLICATIONS: Interventions designed to help individuals reframe negative appraisals, to increase perceived manageability of the challenges of living with XXY, and to facilitate effective coping may improve adaptation among individuals with XXY.


Assuntos
Adaptação Psicológica , Comportamento do Adolescente , Síndrome de Klinefelter/psicologia , Estigma Social , Adolescente , Estudos Transversais , Feminino , Humanos , Síndrome de Klinefelter/epidemiologia , Masculino , Análise Multivariada , Percepção , Escalas de Graduação Psiquiátrica , Análise de Regressão , Inquéritos e Questionários , Adulto Jovem
10.
Am J Med Genet C Semin Med Genet ; 166C(1): 93-104, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24634402

RESUMO

Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most significant are limited evidence about the clinical implications of the variants and a lack of a comprehensive knowledge base that captures genetic variants, their phenotypic associations, and other pertinent phenotypic information that is openly accessible to clinical groups attempting to interpret sequencing data. As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability, and making this information available for clinical use. The National Human Genome Research Institute (NHGRI) and the Wellcome Trust thus convened a workshop to consider the processes and resources needed to: (1) identify clinically valid genetic variants; (2) decide whether they are actionable and what the action should be; and (3) provide this information for clinical use. This commentary outlines the key discussion points and recommendations from the workshop.


Assuntos
Variação Genética/genética , Informática Médica/métodos , Fenótipo , Medicina de Precisão/métodos , Educação , Humanos , Disseminação de Informação/métodos , National Human Genome Research Institute (U.S.) , Medicina de Precisão/tendências , Estados Unidos
11.
Nat Genet ; 44(8): 922-7, 2012 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-22772368

RESUMO

Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-ß signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-ß signaling, including either subunit of the TGF-ß receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease. Here, we report heterozygous mutations or deletions in the gene encoding the TGF-ß2 ligand for a phenotype within the LDS spectrum and show upregulation of TGF-ß signaling in aortic tissue from affected individuals. Furthermore, haploinsufficient Tgfb2(+/-) mice have aortic root aneurysm and biochemical evidence of increased canonical and noncanonical TGF-ß signaling. Mice that harbor both a mutant Marfan syndrome (MFS) allele (Fbn1(C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-ß signaling and phenotypic worsening in association with normalization of TGF-ß2 expression and high expression of TGF-ß1. Taken together, these data support the hypothesis that compensatory autocrine and/or paracrine events contribute to the pathogenesis of TGF-ß-mediated vasculopathies.


Assuntos
Aneurisma da Aorta Torácica/genética , Mutação , Fator de Crescimento Transformador beta2/genética , Animais , Aneurisma da Aorta Torácica/patologia , Modelos Animais de Doenças , Feminino , Fibrilina-1 , Fibrilinas , Haploinsuficiência , Humanos , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/patologia , Masculino , Síndrome de Marfan/genética , Síndrome de Marfan/patologia , Camundongos , Camundongos Knockout , Camundongos Mutantes , Proteínas dos Microfilamentos/genética , Linhagem , Fenótipo , Transdução de Sinais , Síndrome , Fator de Crescimento Transformador beta2/deficiência
12.
Int J Pediatr Otorhinolaryngol ; 76(7): 972-5, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22503448

RESUMO

OBJECTIVE: Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be related to insomnia or circadian issues. METHODS: Caregivers of 31 patients (19 children) with CdLS completed a sleep history questionnaire focused on sleep patterns and evening sleep behavior to screen for signs and symptoms of insomnia and circadian rhythm disorders. RESULTS: The mean age of participants was 14.5 years (range 0.6-37). Major difficulty in falling asleep (75% pediatric, 33% adult) and staying asleep (52% pediatric, 33% adult) was noted. Overall, time to sleep onset was 27.0 ± 17.6 min, however in those with stated sleep onset difficulty, average time to sleep was 37.8 ± 16.4 min (p=0.002). The mean number of pediatric nighttime awakenings was 1.5 overall and 2.1 in those with stated sleep maintenance difficulties versus 0.7 and 1.5 respectively in adults. Children with CdLS tended to fall back asleep slower (61.8 min) than adults (14.9 min), but none of the comparisons between adult and pediatric sleep measures were significant. Greater than half of participants reported a family member with a possible circadian rhythm disorder. CONCLUSIONS: Symptoms suggestive of insomnia or circadian rhythm disorder are prevalent in this cohort of children and adults with CdLS. Adults may have less severe symptoms than children, suggesting some improvement over time although this study is underpowered for this analysis. Further studies are necessary to better characterize sleep disturbance in the CdLS population.


Assuntos
Síndrome de Lange/complicações , Transtornos do Sono do Ritmo Circadiano/epidemiologia , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Prevalência , Transtornos do Sono do Ritmo Circadiano/etiologia , Distúrbios do Início e da Manutenção do Sono/etiologia , Adulto Jovem
13.
J Biomed Inform ; 45(3): 419-22, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22223081

RESUMO

The era of "Personalized Medicine," guided by individual molecular variation in DNA, RNA, expressed proteins and other forms of high volume molecular data brings new requirements and challenges to the design and implementation of Electronic Health Records (EHRs). In this article we describe the characteristics of biomolecular data that differentiate it from other classes of data commonly found in EHRs, enumerate a set of technical desiderata for its management in healthcare settings, and offer a candidate technical approach to its compact and efficient representation in operational systems.


Assuntos
Registros Eletrônicos de Saúde , Genômica , Medicina de Precisão/métodos , Bases de Dados Factuais , Assistência à Saúde , Humanos
14.
Genet Med ; 13(11): 966-72, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21799429

RESUMO

PURPOSE: To determine the prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome. METHODS: Individuals (n = 310) aged 14-75 years with self-reported Klinefelter syndrome were recruited from regional and national support networks to complete a web-based survey. Depressive symptoms were assessed using the Center for Epidemiologic Studies Depression Scale. Perceived consequences (Illness Perceptions Questionnaire), perceived stigma (Perceived Social Stigmatization Scale), and coping (Ways of Coping Checklist-Revised) were also measured and evaluated as correlates of depressive symptoms. RESULTS: Overall, 68.8% of the study participants reported clinically significant levels of depressive symptoms as indicated by a Center for Epidemiologic Studies Depression Scale score ≥16. The use of emotion-focused coping strategies (P < 0.01), perceptions of stigmatization (P < 0.01), perceived negative consequences of Klinefelter syndrome (P < 0.01), and the importance of having children in the future (P < 0.05) were all significantly associated with depressive symptoms. CONCLUSIONS: Individuals with Klinefelter syndrome may be at increased risk for depression. Routine screening for depressive symptoms and appropriate referral and evaluation may be warranted.


Assuntos
Depressão/psicologia , Síndrome de Klinefelter/psicologia , Transtornos Psicóticos/psicologia , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Comorbidade , Depressão/epidemiologia , Inquéritos Epidemiológicos/estatística & dados numéricos , Humanos , Internet , Síndrome de Klinefelter/epidemiologia , Modelos Lineares , Masculino , Estado Civil , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Transtornos Psicóticos/epidemiologia , Ajustamento Social , Estados Unidos , Adulto Jovem
15.
Genet Med ; 13(5): 421-8, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21270639

RESUMO

PURPOSE: Translational investigation on personalized medicine is in its infancy. Exploratory studies reveal attitudinal barriers to "race-based medicine" and cautious optimism regarding genetically personalized medicine. This study describes patient responses to hypothetical conventional, race-based, or genetically personalized medicine prescriptions. METHODS: Three hundred eighty-seven participants (mean age = 47 years; 46% white) recruited from a Baltimore outpatient center were randomized to this vignette-based experimental study. They were asked to imagine a doctor diagnosing a condition and prescribing them one of three medications. The outcomes are emotional response to vignette, belief in vignette medication efficacy, experience of respect, trust in the vignette physician, and adherence intention. RESULTS: Race-based medicine vignettes were appraised more negatively than conventional vignettes across the board (Cohen's d = -0.51-0.57-0.64, P < 0.001). Participants rated genetically personalized comparably with conventional medicine (-0.14-0.15-0.17, P = 0.47), with the exception of reduced adherence intention to genetically personalized medicine (Cohen's d = -0.38-0.41-0.44, P = 0.009). This relative reluctance to take genetically personalized medicine was pronounced for racial minorities (Cohen's d = -0.38-0.31-0.25, P = 0.02) and was related to trust in the vignette physician (change in R = 0.23, P < 0.001). CONCLUSIONS: This study demonstrates a relative reluctance to embrace personalized medicine technology, especially among racial minorities, and highlights enhancement of adherence through improved doctor- patient relationships.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Medicina de Precisão/psicologia , Projetos de Pesquisa , Adulto , Idoso , Grupos de Populações Continentais/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Relações Médico-Paciente , Confiança/psicologia
16.
Int J Pediatr Otorhinolaryngol ; 75(2): 215-8, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21146878

RESUMO

OBJECTIVE: Prior studies have suggested that sleep disturbance is common in Cornelia de Lange Syndrome (CdLS); however, the nature of this sleep disturbance has not been well characterized. In this study, we evaluate the prevalence of sleep disordered breathing (SDB) and sleepiness in children and young adults with CdLS. METHODS: Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18. RESULTS: Both measures of SDB (OSA18 and PSQ) suggest that 35-36% of these patients may have moderate to severe SDB. This is much higher than the general population estimates of 1-4% for SDB with a relative risk of 5.2 (95% CI: 2.8-9.9). Correlation between the OSA18 and PSQ was significant (R=0.67; 95% CI: 0.33-0.85, p=0.0007). Confirming these results among patients with a high probability of SDB (based upon OSA18 scores ≥60), there was a non-significant trend toward increased sleepiness with a relative risk of 2.0 (95% CI: 0.73-5.7, p=0.31) on the PDSS and 2.9 (95% CI: 0.93-9.1, p=0.08) on the PSQ sleepiness scale. In those patients with low probability of SDB (OSA18<60), sleepiness was still seen in 13-29% of patients. Overall 23-35% of participants were characterized as sleepy. CONCLUSIONS: Sleep disordered breathing and sleepiness appear to be common in CdLS although small sample sizes limit further conclusions. Additional studies with larger sample size and confirmation with polysomnography are needed to further explore the nature and extent of sleep disturbance in this population.


Assuntos
Síndrome de Lange/diagnóstico , Síndrome de Lange/epidemiologia , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Cuidadores , Criança , Pré-Escolar , Estudos de Coortes , Comorbidade , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/epidemiologia , Feminino , Humanos , Incidência , Masculino , Prognóstico , Distribuição por Sexo , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/epidemiologia , Inquéritos e Questionários
18.
Genet Med ; 10(9): 659-67, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18978677

RESUMO

PURPOSE: The aim of this article was to determine the accuracy and efficiency of World Wide Web ("Web") resources to help nongeneticists answer four clinical questions about each of five common genetic conditions. METHODS: Correct answers were established by literature review. Two open-access genetics resources and seven general subscription resources were reviewed. Scoring criteria were established to define complete, partial, vague, inconsistent, not found, and wrong answers. The main outcome measures were number of answers found, accuracy, and completeness of answers. Efficiency (time per answer found) was a secondary measure. RESULTS: Overall, the databases contained complete answers 33.3% of the time but contained no information as frequently (33.9%). The best database had complete answers 70% of the time, whereas the worst contained no complete answers. Five of the seven subscription databases had a total of eight wrong answers. The other two subscription databases and the two open-access genetics databases had no wrong answers. Search time ranged from 3.2 to 18.3 minutes per complete answer. CONCLUSIONS: Nongeneticist providers do not have a Web resource that is accessible, accurate, and efficient to answer genetic questions that might arise in practice.


Assuntos
Bases de Dados Factuais , Armazenamento e Recuperação da Informação , Internet , Serviços de Informação
19.
Am J Med Genet C Semin Med Genet ; 145C(3): 248-60, 2007 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-17640042

RESUMO

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.


Assuntos
Envelhecimento/patologia , Envelhecimento/fisiologia , Síndrome de Lange/diagnóstico , Síndrome de Lange/genética , Facies , Adolescente , Adulto , Envelhecimento/genética , Criança , Síndrome de Lange/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
20.
Am J Med Genet A ; 138A(3): 199-207, 2005 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-16152640

RESUMO

The purpose of this study was to establish diagnostic criteria for Stickler syndrome. Ninety patients from 38 families had complete evaluations for possible Stickler syndrome. Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families. In the remaining 65 patients, 47 from 25 families were affected with Stickler syndrome and 18 from seven families were unaffected with Stickler syndrome. A diagnostic nosology based on type I Stickler patients with known COL2A1 mutations was applied to clinically affected and unaffected patients. A diagnostic scale of 9 points evaluated molecular data or family history data and characteristic ocular, orofacial, auditory, and musculoskeletal findings. A score of > or =5 was diagnostic of Stickler syndrome. These criteria demonstrate 100% sensitivity when applied to type I Stickler syndrome patients with known COL2A1 mutations, 98% sensitivity when applied to clinically affected Stickler patients, and 86% specificity when applied to patients unaffected based on clinical and/or molecular analysis. We conclude that diagnostic criteria based on type I Stickler patients with molecularly confirmed COL2A1 mutations appear to be sensitive and specific for the diagnosis of this syndrome and should be helpful to clinicians when making the diagnosis.


Assuntos
Colágeno Tipo II/genética , Facies , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Colágeno Tipo II/deficiência , Colágeno Tipo II/fisiologia , Feminino , Audição/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Índice de Gravidade de Doença , Síndrome
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