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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(4): 475-478, 2020 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-32219841

RESUMO

OBJECTIVE: To explore the genetic basis for a child with supravalvular aortic stenosis. METHODS: The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings. CONCLUSION: The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.


Assuntos
Estenose Aórtica Supravalvular/genética , Deleção de Genes , Síndrome de Williams/genética , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 7/genética , Hibridização Genômica Comparativa , Testes Genéticos , Humanos , Síndrome de Williams/complicações
2.
Medicine (Baltimore) ; 98(26): e16276, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261599

RESUMO

RATIONALE: Total anomalous pulmonary venous return (TAPVR) is a rare condition, accounting for 1% of all congenital heart diseases, and an atypical cardiovascular abnormality in Williams syndrome (WS). Here, we report a rare case of WS combined with infracardiac TAPVR. PATIENT CONCERNS: A female newborn presented shortness of breath and purpura after crying at the age of 10 days. DIAGNOSIS: Based on clinical symptoms and laboratory and echocardiographic findings, the patient was diagnosed with infracardiac TAPVR. INTERVENTIONS: We performed infracardiac total anomalous pulmonary venous connection repair surgery. OUTCOMES: The operation was successful and the patient was discharged from the hospital uneventfully after 2 months of treatment. However, we diagnosed the patient with WS in addition to infracardiac TAPVR 6 months postoperatively. LESSONS: This case demonstrates that patients with WS can have associated infracardiac TAPVR. The postoperative growth patterns and changes in the diameters of the aorta and pulmonary arteries were related closely to our early diagnosis of TAPVR associated with WS.


Assuntos
Anormalidades Múltiplas , Síndrome de Cimitarra/complicações , Síndrome de Williams/complicações , Feminino , Humanos , Recém-Nascido , Síndrome de Cimitarra/diagnóstico por imagem
3.
Congenit Heart Dis ; 14(5): 684-690, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31166070

RESUMO

OBJECTIVE: Cardiovascular lesions are the leading cause of morbidity and mortality in patients with Williams syndrome. Recent studies have rebutted conventional reports about the natural course of cardiovascular anomalies in Williams syndrome. DESIGN: Retrospective study. SETTING: Single tertiary center. PATIENTS: Eighty patients with Williams syndrome followed up for more than 5 years. INTERVENTIONS: Not applicable. OUTCOME MEASURES: Long-term outcome of cardiovascular lesions, peak velocity change in obstructive cardiovascular lesions over time, post-interventional courses of disease-specific intervention, and intervention-free survival of obstructive cardiovascular lesions. RESULTS: The median follow-up duration was 11.0 (5.1-28.3) years. Among 80 patients, supravalvular aortic stenosis (87.5%) was the most common cardiovascular lesion, followed by branch pulmonary stenosis (53.8%), mitral valve prolapse (22.5%), and aortic arch hypoplasia/coarctation (5.0%). During the follow-up period, the peak flow velocity of supravalvular aortic stenosis did not change on peak Doppler echocardiography. Initially, severe supravalvular aortic stenosis was aggravated (P < .027). Conversely, the peak velocity of branch pulmonary stenosis decreased (from 3.08 to 1.65 m/s; P < .001) within age 3.2 (0.4-6.9) years. Even the group with severe branch PS improved over time. Twenty-two patients (27.5%) with Williams syndrome underwent disease-specific interventions without mortality, mostly for supravalvular aortic stenosis or mitral valve prolapse. No patient in the late-onset and initially mild supravalvular aortic stenosis group needed intervention and 37.5%, 48.4%, and 65.1% in initially moderate and severe supravalvular aortic stenosis groups needed intervention at age 5, 10, and 20 years, respectively. Unlike the conventional therapeutic concept, the intervention for branch pulmonary stenosis was almost unnecessary. CONCLUSIONS: In Williams syndrome, initially severe supravalvular aortic stenosis worsened over time and most branch pulmonary stenoses, including those in the severe group, improved spontaneously. Most patients with branch pulmonary stenosis did not require disease-specific intervention. Surgical repairs for cardiovascular abnormalities in Williams syndrome showed favorable results.


Assuntos
Doenças Cardiovasculares/etiologia , Previsões , Síndrome de Williams/complicações , Adolescente , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Criança , Pré-Escolar , Progressão da Doença , Ecocardiografia Doppler , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Morbidade/tendências , Prognóstico , República da Coreia/epidemiologia , Estudos Retrospectivos , Taxa de Sobrevida/tendências
4.
J Endocrinol Invest ; 42(3): 337-344, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30030744

RESUMO

CONTEXT: The previous studies suggested a possible increased risk of hypercalcaemia and reduced bone mineral density (BMD) in Williams' syndrome (WS). However, an extensive study regarding bone metabolism has never been performed. OBJECTIVE: To investigate bone health in young adults with WS. DESIGN: Cross-sectional study. SETTINGS: Endocrinology and Metabolic Diseases and Medical Genetic Units. PATIENTS: 29 WS young adults and 29 age- and sex-matched controls. MAIN OUTCOME MEASURES: In all subjects, calcium, phosphorus, bone alkaline phosphatase (bALP), parathyroid hormone (PTH), 25-hydroxyvitamin D (25OHVitD), osteocalcin (OC), carboxyterminal cross-linking telopeptide of type I collagen (CTX), 24-h urinary calcium and phosphorus, femoral-neck (FN) and lumbar-spine (LS) BMD and vertebral fractures (VFx) were assessed. In 19 patients, serum fibroblast growth factor-23 (FGF23) levels were measured. RESULTS: WS patients showed lower phosphorus (3.1 ± 0.7 vs 3.8 ± 0.5 mg/dL, p = 0.0001) and TmP/GFR (0.81 ± 0.32 vs 1.06 ± 0.25 mmol/L, p = 0.001), and an increased prevalence (p = 0.005) of hypophosphoremia (34.5 vs 3.4%) and reduced TmP/GFR (37.9 vs 3.4%). Moreover, bALP (26.3 ± 8.5 vs 35.0 ± 8.0 U/L), PTH (24.5 ± 12.6 vs 33.7 ± 10.8 pg/mL), OC (19.4 ± 5.3 vs 24.5 ± 8.7 ng/mL), and FN-BMD (- 0.51 ± 0.32 vs 0.36 ± 0.32) were significantly lower (p < 0.05), while CTX significantly higher (401.2 ± 169.3 vs 322.3 ± 122.4 pg/mL, p < 0.05). Serum and urinary calcium and 25OHVitD levels, LS-BMD and VFx prevalence were comparable. No cases of hypercalcemia and suppressed FGF23 were documented. Patients with low vs normal phosphorus and low vs normal TmP/GFR showed comparable FGF23 levels. FGF23 did not correlate with phosphorus and TmP/GFR values. CONCLUSIONS: Adult WS patients have reduced TmP/GFR, inappropriately normal FGF23 levels and an uncoupled bone turnover with low femoral BMD.


Assuntos
Densidade Óssea , Doenças Ósseas Metabólicas/etiologia , Remodelação Óssea , Hipofosfatemia/etiologia , Síndrome de Williams/complicações , Síndrome de Williams/metabolismo , Adulto , Biomarcadores/análise , Doenças Ósseas Metabólicas/metabolismo , Doenças Ósseas Metabólicas/patologia , Estudos de Casos e Controles , Estudos Transversais , Feminino , Fatores de Crescimento de Fibroblastos/metabolismo , Seguimentos , Humanos , Hipofosfatemia/metabolismo , Hipofosfatemia/patologia , Masculino , Hormônio Paratireóideo/metabolismo , Prognóstico , Síndrome de Williams/patologia , Adulto Jovem
5.
Semin Thorac Cardiovasc Surg ; 31(1): 99-101, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30189261

RESUMO

Left main coronary artery (LMCA) stenosis is present in approximately 5% of patients with congenital supravalvular aortic stenosis (SVAS) (Fig. 1)1 and is associated with an increased risk of sudden cardiac death.2 However, patients undergoing coronary artery intervention at the time of SVAS repair are at the highest risk of experiencing major adverse cardiac events.3 Literature reports of surgical techniques and outcomes of concomitant coronary artery repair in these high-risk patients are diverse and inconsistently described. We have recently adopted a standardized surgical technique for management of this complex pathology by combining extended LMCA patch augmentation with a 3-patch aortic root reconstruction (Brom's technique). In this report, we describe our contemporary surgical technique of 3-patch aortic root reconstruction with extended LMCA patch augmentation for patients with congenital SVAS with ostial LMCA stenosis and bilateral outflow tract obstruction. Institutional review board approval was obtained for retrospective review of patient charts.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Estenose Coronária/cirurgia , Pericárdio/transplante , Artéria Pulmonar/transplante , Síndrome de Williams/cirurgia , Aloenxertos , Aortografia/métodos , Autoenxertos , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Angiografia por Tomografia Computadorizada , Angiografia Coronária/métodos , Estenose Coronária/complicações , Estenose Coronária/diagnóstico por imagem , Estenose Coronária/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Obstrução do Fluxo Ventricular Externo/etiologia , Obstrução do Fluxo Ventricular Externo/fisiopatologia , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico por imagem , Síndrome de Williams/fisiopatologia
6.
Pediatr Endocrinol Diabetes Metab ; 24(2): 106-109, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30300432

RESUMO

Hypercalcemia may occur in approximately 15% of children with the Williams-Beuren syndrome. The episodes of hypercalcemic crisis usually respond well to initial hyperhydration, loop diuretics and calcitonin, bisphosphonates, or subsequent dialysis. However, many patients suffer from recurrent or persistent hypercalcemia after the resolution of the hypercalcemic crisis. Although hypercalcemia in the Williams-Beuren syndrome is generally considered transient, it may last for several months, result in significant morbidity, and compromise physical growth. There are no guidelines for the management of persistent or recurrent hypercalcemia in patients with the Williams-Beuren syndrome. In this report, we describe our experience of conducting oral corticosteroid therapy in a child with the Williams-Beuren syndrome who continued to have hypercalcemia after the resolution of the hypercalcemic crisis.


Assuntos
Hipercalcemia/tratamento farmacológico , Prednisolona/uso terapêutico , Síndrome de Williams/complicações , Administração Oral , Gerenciamento Clínico , Humanos , Hipercalcemia/etiologia , Lactente , Masculino , Prednisolona/administração & dosagem
7.
Turk J Pediatr ; 60(2): 210-215, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30325132

RESUMO

Bastug F, Nalçacioglu H, Bas VN, Tekatli-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Infantile hypercalcemia has been reported in 15% of infants and children with Williams-Beuren syndrome (WBS) and has generally mild clinical symptoms. However, the need for pamidronate treatment in a few infants with severe hypercalcemia associated with WBS has been reported in literature. Many disorders, such as primary hyperoxaluria, associated with nephrocalcinosis can lead to renal failure, but there are only a few reports in infants with WBS who have decreased renal function and nephrocalsinosis. We present a 23-month-old girl with WBS (confirmed with fluorescent in situ hybridization probes) who presented with acute renal failure with severe symptomatic hypercalcemia and nephrocalcinosis, which responded to two infusions of pamidronate.


Assuntos
Lesão Renal Aguda/tratamento farmacológico , Conservadores da Densidade Óssea/uso terapêutico , Hipercalcemia/complicações , Nefrocalcinose/complicações , Pamidronato/uso terapêutico , Síndrome de Williams/complicações , Lesão Renal Aguda/etiologia , Feminino , Humanos , Hipercalcemia/tratamento farmacológico , Hibridização in Situ Fluorescente , Lactente , Rim/diagnóstico por imagem , Rim/patologia , Nefrocalcinose/tratamento farmacológico , Ultrassonografia , Síndrome de Williams/tratamento farmacológico
8.
BMJ Case Rep ; 20182018 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-30262523

RESUMO

We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Abdominal imaging was suggestive of nephrocalcinosis which is rare for this age group. The baby was managed symptomatically and specific treatment like pamidronate, calcitonin and steroid therapy were also administered to reduce hypercalcaemia. Severe hypercalcaemia with associated hypertension and nephrocalcinosis is very rare. Hence, we emphasise here the importance of early detection of these features and their appropriate management for a better outcome of the patient.


Assuntos
Hipercalcemia/etiologia , Nefrocalcinose/etiologia , Síndrome de Williams/complicações , Feminino , Humanos , Lactente , Nefrocalcinose/diagnóstico por imagem , Nefrocalcinose/terapia , Índice de Gravidade de Doença , Ultrassonografia , Síndrome de Williams/genética
9.
J Perinatol ; 38(11): 1453-1456, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30202046

RESUMO

OBJECTIVE: Williams and Alagille syndromes are genetic disorders associated with pathologic arterial narrowing. We hypothesized that fetal idiopathic ductus arteriosus (DA) constriction may represent a prenatal manifestation of the arteriopathy associated with these syndromes. METHODS: Multi-institutional case series review of the pre- and postnatal medical records, echocardiograms, and genetic test results of fetuses presenting with idiopathic DA constriction. RESULTS: We identified four cases of idiopathic fetal DA constriction at 21-36 weeks of gestation. All had right ventricular hypertension, dilation, hypertrophy, and dysfunction and either DA constriction or absence. All demonstrated progressive peripheral pulmonary artery stenosis after birth. Three met clinical diagnostic criteria for Alagille syndrome; two tested had confirmatory JAG1 mutations. One also developed supravalvar aortic stenosis after birth and was positive for 7q11.23 deletion (Williams syndrome). CONCLUSION: This is the first case series to suggest that idiopathic fetal DA constriction may be a prenatal manifestation of genetic arteriopathy.


Assuntos
Síndrome de Alagille/diagnóstico , Canal Arterial/diagnóstico por imagem , Canal Arterial/patologia , Síndrome de Williams/diagnóstico , Síndrome de Alagille/complicações , Síndrome de Alagille/genética , Cromossomos Humanos Par 7/genética , Constrição Patológica/complicações , Constrição Patológica/diagnóstico por imagem , Ecocardiografia , Feminino , Humanos , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal , Síndrome de Williams/complicações , Síndrome de Williams/genética
10.
Curr Opin Pediatr ; 30(5): 609-615, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30045083

RESUMO

PURPOSE OF REVIEW: Williams syndrome is a multisystem disorder seen with some regularity at most pediatric centers and usually fairly often at larger centers. Cardiovascular abnormalities, because of elastin deficiency, are the leading cause of morbidity and mortality in patients with Williams syndrome. The present article presents a review of the most recent developments regarding the cardiovascular issues in Williams syndrome. RECENT FINDINGS: Cardiovascular abnormalities occur in 80% of patients with Williams syndrome, the majority of which are arterial stenoses. The stenoses seen in Williams syndrome now appear to arise from deficient circumferential arterial growth. Pharmacological therapies aimed at improving the vascular stenoses have shown some promise in animal models. Surgical outcomes for supravalvar aortic stenosis are good at most centers. Transcatheter interventions are largely ineffective in Williams syndrome. Multilevel surgical pulmonary artery reconstruction has excellent results for peripheral pulmonary artery stenosis. Periprocedural risk stratification and management algorithms may decrease the risk of cardiovascular complications. SUMMARY: Cardiovascular abnormalities are a major determining factor in the clinical picture and trajectory of patients with Williams syndrome. Advances in surgical techniques, medical therapeutic options, and periprocedural management hold promise for significant improvements in the cardiovascular outcomes of these patients.


Assuntos
Estenose Aórtica Supravalvular/fisiopatologia , Obstrução do Fluxo Ventricular Externo/fisiopatologia , Síndrome de Williams/fisiopatologia , Estenose Aórtica Supravalvular/etiologia , Estenose Aórtica Supravalvular/genética , Contraindicações , Humanos , Medição de Risco , Tomografia Computadorizada por Raios X , Obstrução do Fluxo Ventricular Externo/etiologia , Obstrução do Fluxo Ventricular Externo/genética , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico por imagem , Síndrome de Williams/genética
11.
J Autism Dev Disord ; 48(11): 3958-3964, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29948532

RESUMO

This study explored the interrelationship between intolerance of uncertainty, sensory hyper-sensitivity and anxiety in Williams syndrome (WS). Thirty-two parents or guardians of individuals with WS (Mage = 24.76 years, SD = 7.55) were included. Associations between anxiety, intolerance of uncertainty, sensory hyper-sensitivity, and ASD symptoms were assessed. Linear regression analysis revealed that intolerance of uncertainty and sensory hyper-sensitivity were unique independent predictors of anxiety, while social communication score was not. There was evidence of a mediating effect of sensory hyper-sensitivity on the relationship between intolerance of uncertainty and anxiety. These findings bear strong resemblance to the pattern seen in ASD and emphasize the need for development of anxiety interventions that attempt to reduce negative beliefs about unpredictable situations in WS.


Assuntos
Ansiedade/fisiopatologia , Sensação , Síndrome de Williams/fisiopatologia , Adolescente , Adulto , Ansiedade/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Incerteza , Síndrome de Williams/complicações
12.
Rev. esp. anestesiol. reanim ; 65(4): 234-237, abr. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-177055

RESUMO

El síndrome de Williams-Beuren es la manifestación clínica de una alteración genética congénita en el gen de la elastina, entre otros. Existen antecedentes de parada cardíaca refractaria a maniobras de resucitación en contexto anestésico. Es alta la incidencia de isquemia miocárdica durante la inducción anestésica, pero existen pacientes que, sin esta causa, también presentan eventos cardíacos muy graves. Quedan cuestiones aún por resolver. La descripción de casos permitirá definir factores fisiopatológicos comunes y disminuir la morbimortalidad. Presentamos el caso de un niño de 3 años con parada cardíaca en la inducción anestésica, rescatado con asistencia circulatoria con membrana de oxigenación extracorpórea e hipotermia inducida como protección cerebral


Williams-Beuren syndrome is the clinical manifestation of a congenital genetic disorder in the elastin gene, among others. There is a history of cardiac arrest refractory to resuscitation manoeuvres in anaesthesia. The incidence of myocardial ischaemia is high during anaesthetic induction, but there are patients who do not have this condition yet also have had very serious cardiac events, and issues that are still to be resolved. Case descriptions will enable the common pathophysiological factors to be defined, and decrease morbidity and mortality. We report the case of a 3-year-old boy with cardiac arrest at induction, rescued with circulatory assistance with extracorporeal membrane oxygenation and hypothermia induced for cerebral protection


Assuntos
Humanos , Masculino , Pré-Escolar , Síndrome de Williams/complicações , Anestésicos/efeitos adversos , Parada Cardíaca/induzido quimicamente , Estenose Aórtica Supravalvular/cirurgia , Oxigenação por Membrana Extracorpórea , Hipotermia Induzida , Fatores de Risco , Traumatismo por Reperfusão/complicações
14.
Eur Psychiatry ; 48: 20-26, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29331595

RESUMO

BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories. METHODS: Forty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12-35years, were assessed at two time points (15.2±2.1months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB). RESULTS: 22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS. CONCLUSIONS: Our results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS.


Assuntos
Cognição/fisiologia , Síndrome de DiGeorge/complicações , Transtornos Psicóticos/complicações , Esquizofrenia/complicações , Síndrome de Williams/complicações , Adolescente , Adulto , Antipsicóticos/uso terapêutico , Criança , Função Executiva , Feminino , Humanos , Estudos Longitudinais , Masculino , Sintomas Prodrômicos , Transtornos Psicóticos/tratamento farmacológico , Esquizofrenia/tratamento farmacológico , Comportamento Social , Adulto Jovem
15.
Med. oral patol. oral cir. bucal (Internet) ; 23(1): e1-e6, ene. 2018. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-170296

RESUMO

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life (AU


No disponible


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Síndrome de Williams/diagnóstico , Radiografia Panorâmica/métodos , Anormalidades Congênitas/diagnóstico por imagem , Má Oclusão/diagnóstico , Anodontia/diagnóstico , Síndrome de Williams/fisiopatologia , Biologia Molecular/métodos , Anormalidades Congênitas/fisiopatologia , Síndrome de Williams/complicações , Má Oclusão/terapia
16.
J Voice ; 32(4): 515.e15-515.e28, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28779989

RESUMO

The voice of persons with Williams syndrome (WS) is described as hoarse with a deep and unstable fundamental frequency (f0). These observations may be justified by the deficit of elastin due to a haplo-insufficiency in the ELN gene characteristic of the syndrome. In view of the possible relationship between elastin deficit and dysphonia, a study of the dynamic function of WS phonation was conducted by means of biomechanical analysis. In order to assess the presence of dysphonic symptoms and their degree of severity, the biomechanical description of WS phonation has been evaluated in terms of dynamic mass and viscoelasticity estimates. Glottal biomechanical features such as vocal fold dynamic mass, stiffness, unbalances, and laryngeal tremor of 12 children with WS aged 3 to 8 years (five girls and seven boys) have been estimated and compared with the normative phonation of 97 children with typical development (53 girls and 44 boys). The results show that WS children show differences in f0, vocal fold mass and stiffness, phonation stability, glottal contact defects, and laryngeal tremor. The conclusions may help to make a more complete view of the connection between WS and dysphonia based on objective assessments.


Assuntos
Laringe/fisiopatologia , Fonação , Distúrbios da Voz/etiologia , Qualidade da Voz , Síndrome de Williams/complicações , Acústica , Fatores Etários , Fenômenos Biomecânicos , Estudos de Casos e Controles , Criança , Pré-Escolar , Deleção Cromossômica , Elastina/genética , Feminino , Humanos , Masculino , Medida da Produção da Fala , Distúrbios da Voz/diagnóstico , Distúrbios da Voz/fisiopatologia , Síndrome de Williams/diagnóstico , Síndrome de Williams/genética , Síndrome de Williams/fisiopatologia
17.
Rev Assoc Med Bras (1992) ; 64(8): 723-728, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30673043

RESUMO

AIM: To describe the incidence, diagnosis, and management of systemic arterial hypertension related to renal artery stenosis in patients with Williams-Beuren syndrome. METHODS: Sixty-five patients with Williams-Beuren syndrome were evaluated for hypertension. Enrolled patients underwent Doppler sonography of the renal arteries and Doppler echocardiography. Those with Doppler sonography-detected lesions or with normal Doppler sonography but severe hypertension underwent computed tomography or gadolinium-enhanced magnetic resonance angiography of the aorta and renal vessels. Patients needing vascular therapeutic intervention underwent conventional angiography. RESULTS: Systemic arterial hypertension was diagnosed in 21/65 patients with Williams-Beuren syndrome (32%; 13 male) with a mean age of 13.9 years (5mo-20yrs). In 8/21 patients renovascular hypertension was detected. Angioplasty was unsuccessful in five patients with renal artery stenosis, requiring additional treatment. Doppler echocardiography showed cardiac abnormalities in 16/21 (76%) hypertensive patients. CONCLUSION: Cardiac abnormalities and hypertension in patients with Williams-Beuren syndrome are common. Thus, thorough evaluation and follow-up are necessary to reduce cardiovascular risks and mortality of these patients.


Assuntos
Hipertensão/etiologia , Obstrução da Artéria Renal/complicações , Síndrome de Williams/complicações , Adolescente , Adulto , Brasil/epidemiologia , Criança , Pré-Escolar , Ecocardiografia Doppler , Feminino , Humanos , Hipertensão/diagnóstico por imagem , Hipertensão/epidemiologia , Incidência , Lactente , Angiografia por Ressonância Magnética , Masculino , Estudos Prospectivos , Obstrução da Artéria Renal/diagnóstico por imagem , Obstrução da Artéria Renal/epidemiologia , Ultrassonografia Doppler , Síndrome de Williams/diagnóstico por imagem , Síndrome de Williams/epidemiologia , Adulto Jovem
18.
Acta Paediatr ; 107(4): 678-684, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29266477

RESUMO

AIM: Endocrine abnormalities in Williams-Beuren syndrome (WBS) include growth retardation, precocious puberty, hypercalcaemia and thyroid disorders. We aimed to characterise these abnormalities in a national cohort of children with WBS. METHODS: A retrospective study comprising a national cohort of individuals with WBS in Israel (16 males, 18 females) followed between 2010 and 2016. RESULTS: The age at diagnosis of WBS was 1.4 ± 1.0 years. Height standard deviation score (SDS) at last visit was correlated with the midparental height SDS (r = 0.46 p = 0.007). Yet, participants did not reach their midparental height, with a difference of 1.40 ± 0.85SD (p < 0.001). Short stature below the 3rd percentile was found in 14 participants (41%). Mean insulin-like growth factor 1 SDS was low (-0.61 ± 1.64) and was correlated with the mean height SDS (r = 0.63 p = 0.038). Two participants were diagnosed with growth hormone deficiency, and initiation of growth hormone treatment improved their height velocity. A total of eight participants (23.5%) had mild hypercalcaemia, five girls (14.7%) had precocious puberty and five participants (14.7%) had thyroid abnormalities. CONCLUSION: Individuals with WBS had a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. Precocious puberty, hypercalcaemia and thyroid abnormalities should be screened for and treated as needed.


Assuntos
Doenças do Sistema Endócrino/epidemiologia , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico , Adolescente , Estatura , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/epidemiologia , Humanos , Lactente , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Puberdade Precoce/epidemiologia , Estudos Retrospectivos , Adulto Jovem
19.
Med Oral Patol Oral Cir Bucal ; 23(1): e1-e6, 2018 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-29274148

RESUMO

BACKGROUND: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. MATERIAL AND METHODS: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. RESULTS: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. CONCLUSIONS: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.


Assuntos
Anormalidades Múltiplas , Má Oclusão/complicações , Anormalidades Dentárias/complicações , Síndrome de Williams/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem
20.
J Autism Dev Disord ; 48(3): 947-952, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29164439

RESUMO

Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously unreported adults with WS diagnosed with co-morbid MDD with psychotic features. Co-morbid medical disorders common in WS are highlighted with regard to safe and appropriate pharmacological treatment. The importance of assessment for co-morbid MDD with psychotic features in individuals with WS is emphasized.


Assuntos
Transtorno Depressivo Maior/complicações , Transtorno Depressivo Maior/diagnóstico , Transtornos Psicóticos/complicações , Transtornos Psicóticos/diagnóstico , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico , Adulto , Comorbidade , Transtorno Depressivo Maior/psicologia , Feminino , Humanos , Masculino , Transtornos Psicóticos/psicologia , Síndrome de Williams/psicologia
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