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1.
Cereb Cortex ; 34(2)2024 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-38365268

RESUMO

Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is limited. This study aimed to analyze prenatal brain development in fetuses with cleft lip/palate and controls. We examined in utero MRIs of 30 controls and 42 cleft lip/palate fetal cases and measured regional brain volumes. Cleft lip/palate was categorized into groups A (cleft lip or alveolus) and B (any combination of clefts involving the primary and secondary palates). Using a repeated-measures regression model with relative brain hemisphere volumes (%), and after adjusting for multiple comparisons, we did not identify significant differences in regional brain growth between group A and controls. Group B clefts had significantly slower weekly cerebellar growth compared with controls. We also observed divergent brain growth in transient brain structures (cortical plate, subplate, ganglionic eminence) within group B clefts, depending on severity (unilateral or bilateral) and defect location (hemisphere ipsilateral or contralateral to the defect). Further research is needed to explore the association between regional fetal brain growth and cleft lip/palate severity, with the potential to inform early neurodevelopmental biomarkers and personalized diagnostics.


Assuntos
Fenda Labial , Fissura Palatina , Feminino , Criança , Gravidez , Humanos , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Encéfalo/diagnóstico por imagem , Encéfalo/anormalidades , Feto
2.
Radiographics ; 44(5): e230153, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38602868

RESUMO

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway. Abnormal activation of the Ras/MAPK pathway plays a major role in development of RASopathies. The individual disorders of RASopathies are rare, but collectively they are the most common genetic condition (one in 1000 newborns). Activation or dysregulation of the common Ras/MAPK pathway gives rise to overlapping clinical features of RASopathies, involving the cardiovascular, lymphatic, musculoskeletal, cutaneous, and central nervous systems. At the same time, there is much phenotypic variability in this group of disorders. Benign and malignant tumors are associated with certain disorders. Recently, many institutions have established multidisciplinary RASopathy clinics to address unique therapeutic challenges for patients with RASopathies. Medications developed for Ras/MAPK pathway-related cancer treatment may also control the clinical symptoms due to an abnormal Ras/MAPK pathway in RASopathies. Therefore, radiologists need to be aware of the concept of RASopathies to participate in multidisciplinary care. As with the clinical manifestations, imaging features of RASopathies are overlapping and at the same time diverse. As an introduction to the concept of RASopathies, the authors present major representative RASopathies, with emphasis on their imaging similarities and differences. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.


Assuntos
Síndrome de Costello , Displasia Ectodérmica , Cardiopatias Congênitas , Síndrome de Noonan , Recém-Nascido , Humanos , Síndrome de Noonan/diagnóstico por imagem , Síndrome de Noonan/genética , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/genética , Displasia Ectodérmica/diagnóstico por imagem , Displasia Ectodérmica/genética , Radiologistas
3.
Cereb Cortex ; 33(4): 1130-1139, 2023 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-35349640

RESUMO

Mild isolated fetal ventriculomegaly (iFVM) is the most common abnormality of the fetal central nervous system. It is characterized by enlargement of one or both of the lateral ventricles (defined as ventricular width greater than 10 mm, but less than 12 mm). Despite its high prevalence, the pathophysiology of iFVM during fetal brain development and the neurobiological substrate beyond ventricular enlargement remain unexplored. In this work, we aimed to establish the relationships between the structural development of transient fetal brain zones/compartments and increased cerebrospinal fluid volume. For this purpose, we used in vivo structural T2-weighted magnetic resonance imaging of 89 fetuses (48 controls and 41 cases with iFVM). Our results indicate abnormal development of transient zones/compartments belonging to both hemispheres (i.e. on the side with and also on the contralateral side without a dilated ventricle) in fetuses with iFVM. Specifically, compared to controls, we observed enlargement of proliferative zones and overgrowth of the cortical plate in iFVM with associated reduction of volumes of central structures, subplate, and fetal white matter. These results indicate that enlarged lateral ventricles might be linked to the development of transient fetal zones and that global brain development should be taken into consideration when evaluating iFVM.


Assuntos
Hidrocefalia , Imageamento por Ressonância Magnética , Gravidez , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Ultrassonografia Pré-Natal/métodos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/complicações , Hidrocefalia/patologia , Encéfalo/patologia , Feto
4.
Cereb Cortex ; 33(21): 10793-10801, 2023 10 14.
Artigo em Inglês | MEDLINE | ID: mdl-37697904

RESUMO

Non-syndromic, isolated musculoskeletal birth defects (niMSBDs) are among the leading causes of pediatric hospitalization. However, little is known about brain development in niMSBDs. Our study aimed to characterize prenatal brain development in fetuses with niMSBDs and identify altered brain regions compared to controls. We retrospectively analyzed in vivo structural T2-weighted MRIs of 99 fetuses (48 controls and 51 niMSBDs cases). For each group (19-31 and >31 gestational weeks (GW)), we conducted repeated-measures regression analysis with relative regional volume (% brain hemisphere) as a dependent variable (adjusted for age, side, and interactions). Between 19 and 31GW, fetuses with niMSBDs had a significantly (P < 0.001) smaller relative volume of the intermediate zone (-22.9 ± 3.2%) and cerebellum (-16.1 ± 3.5%,) and a larger relative volume of proliferative zones (38.3 ± 7.2%), the ganglionic eminence (34.8 ± 7.3%), and the ventricles (35.8 ± 8.0%). Between 32 and 37 GW, compared to the controls, niMSBDs showed significantly smaller volumes of central regions (-9.1 ± 2.1%) and larger volumes of the cortical plate. Our results suggest there is altered brain development in fetuses with niMSBDs compared to controls (13.1 ± 4.2%). Further basic and translational neuroscience research is needed to better visualize these differences and to characterize the altered development in fetuses with specific niMSBDs.


Assuntos
Encéfalo , Cérebro , Gravidez , Feminino , Humanos , Criança , Estudos Retrospectivos , Feto , Desenvolvimento Fetal , Imageamento por Ressonância Magnética/métodos , Idade Gestacional
5.
Dev Neurosci ; 45(3): 105-114, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36538911

RESUMO

Early variations of fetal movements are the hallmark of a healthy developing central nervous system. However, there are no automatic methods to quantify the complex 3D motion of the developing fetus in utero. The aim of this prospective study was to use machine learning (ML) on in utero MRI to perform quantitative kinematic analysis of fetal limb movement, assessing the impact of maternal, placental, and fetal factors. In this cross-sectional, observational study, we used 76 sets of fetal (24-40 gestational weeks [GW]) blood oxygenation level-dependent (BOLD) MRI scans of 52 women (18-45 years old) during typical pregnancies. Pregnant women were scanned for 5-10 min while breathing room air (21% O2) and for 5-10 min while breathing 100% FiO2 in supine and/or lateral position. BOLD acquisition time was 20 min in total with effective temporal resolution approximately 3 s. To quantify upper and lower limb kinematics, we used a 3D convolutional neural network previously trained to track fetal key points (wrists, elbows, shoulders, ankles, knees, hips) on similar BOLD time series. Tracking was visually assessed, errors were manually corrected, and the absolute movement time (AMT) for each joint was calculated. To identify variables that had a significant association with AMT, we constructed a mixed-model ANOVA with interaction terms. Fetuses showed significantly longer duration of limb movements during maternal hyperoxia. We also found a significant centrifugal increase of AMT across limbs and significantly longer AMT of upper extremities <31 GW and longer AMT of lower extremities >35 GW. In conclusion, using ML we successfully quantified complex 3D fetal limb motion in utero and across gestation, showing maternal factors (hyperoxia) and fetal factors (gestational age, joint) that impact movement. Quantification of fetal motion on MRI is a potential new biomarker of fetal health and neuromuscular development.


Assuntos
Hiperóxia , Placenta , Gravidez , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Transversais , Movimento Fetal , Feto , Imageamento por Ressonância Magnética/métodos , Aprendizado de Máquina
6.
Vet Radiol Ultrasound ; 63(1): 54-63, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34672041

RESUMO

Computed tomographic arthrography (CTA) has been described as a method for detecting articular cartilage defects in equine carpal joints; however, published studies on the effects of contrast volume for lesion detection are currently lacking. The purpose of this prospective, experimental, pilot study was to determine a threshold volume of iodinated contrast for CTA of the antebrachiocarpal (ABC) and middle carpal (MC) joints for detection of articular cartilage surface defects. Articular cartilage defects were iatrogenically created in the surfaces of the ABC and MC joints of 20 equine cadaver limbs using arthroscopy. Unaltered articular surfaces within some joints acted as controls. Joints were imaged precontrast using multidetector CT. The ABC and MC joints were injected with a 150 mg iodine/ml nonionic contrast medium, in 5 ml increments from 5 to 50 ml per joint with CT performed subsequent to each increment. Cartilage defects were measured grossly using a caliper. Detection (qualitative) and measurement (quantitative) of the defects were independently performed by two board-certified radiologists using medical imaging software. At each volume of contrast, the interrater reliability for gross examination and the two observers in the detection of a defect was calculated (Gwet's AC1). Logistic mixed-effects models of selected volumes, 0, 5, 10, 15, and 50 ml, demonstrated that at 10 ml contrast and above, no statistically significant difference between either observer and gross examination for defect detection was identified for either joint. Findings supported using a dose of 10 ml for 150 mg iodine/ml concentration contrast media when performing CTA of equine carpal joints.


Assuntos
Articulações do Carpo , Cartilagem Articular , Animais , Artrografia/veterinária , Articulações do Carpo/diagnóstico por imagem , Cartilagem Articular/diagnóstico por imagem , Cavalos , Projetos Piloto , Estudos Prospectivos , Reprodutibilidade dos Testes , Tomografia Computadorizada por Raios X/veterinária
7.
AJR Am J Roentgenol ; 216(6): 1649-1658, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-32845713

RESUMO

BACKGROUND. Costochondral junction (CCJ) rib fractures pose a challenge in the radiographic detection and dating of infant abuse. OBJECTIVE. The purpose of this article was to assess the temporal pattern of radio-graphic findings of CCJ fractures on a serial skeletal survey (SS). METHODS. Reports of SSs performed for suspected infant abuse were reviewed to identify those reporting a CCJ fracture. Study inclusion required undergoing initial and approximately 2-week follow-up SSs that included anteroposterior and bilateral oblique radiographs of the reported CCJ rib fracture. Two pediatric radiologists retrospectively classified fractures in terms of the primary injury pattern (bucket-handle: visible crescentic fracture line; corner: visible triangular fracture line; other) and secondary healing pattern (growth disturbance; sclerosis; subperiosteal new bone formation [SPNBF]). Discrepant readings were resolved by consensus. RESULTS. The final cohort included 26 infants with 81 CCJ fractures. On initial SS, 59% (48/81) of fractures showed a primary pattern, most commonly a bucket-handle pattern (46%; 37/81); 6% (5/81) showed a primary pattern on follow-up SS (p < .001). On initial SS, the prevalence of a secondary pattern was 89% (72/81), most commonly a growth disturbance (85%; 69/81), followed by sclerosis (57%; 46/81); 80% (65/81) showed a secondary pattern on follow-up SS (p = .12). Overall prevalence of SPNBF was 28% (23/81). Addition of bilateral oblique views on initial SS resulted in a significant increase relative to the anteroposterior views alone in the detection of primary and secondary patterns by 15% (p = .04) and 30% (p < .001), respectively. CONCLUSION. A bucket-handle appearance is the most common primary pattern of fracture. The significantly lower prevalence of a primary pattern on follow-up vs initial SSs suggests that the CCJ fracture line is usually visible for only approximately 2 weeks. A growth disturbance of the rib end is the most common secondary pattern, followed by bony sclerosis, consistent with a healing injury. SPNBF is uncommon. Most CCJ fractures are in a healing phase at initial diagnosis. The signs of repair commonly remain visible on 2-week follow-up. The increased diagnostic yield of oblique views provides support to the inclusion of these projections in routine SS protocols. CLINICAL IMPACT. The findings will help radiologists improve the diagnosis and dating of CCJ rib fractures.


Assuntos
Maus-Tratos Infantis/diagnóstico , Radiografia/métodos , Fraturas das Costelas/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Costelas/diagnóstico por imagem
8.
Pediatr Radiol ; 51(13): 2461-2469, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34351495

RESUMO

Diagnostic imaging of the pediatric stomach often provides a challenge for practicing radiologists. Radiologists should be aware of relatively unusual congenital pathology, especially when imaging very young children with gastrointestinal symptoms. We review congenital pathology of the pediatric stomach.


Assuntos
Anormalidades Congênitas , Gastroenteropatias , Criança , Pré-Escolar , Humanos , Estômago/diagnóstico por imagem
9.
Pediatr Radiol ; 50(9): 1180-1190, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32474774

RESUMO

Diagnostic imaging of pediatric gastric masses often provides a challenge for the practicing radiologist. Radiologists should be aware of this relatively unusual pathology, particularly in cross-sectional imaging findings. We will review pediatric gastric masses and mass-like lesions, focusing on neoplastic and inflammatory etiologies.


Assuntos
Anormalidades do Sistema Digestório/diagnóstico por imagem , Gastropatias/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Meios de Contraste , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido
10.
Pediatr Radiol ; 50(9): 1284-1292, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32495175

RESUMO

Splenic masses present a diagnostic challenge to radiologists and clinicians alike, with a relative paucity of data correlating radiologic findings to pathological diagnosis in the pediatric population. To illustrate splenic mass imaging findings and approximate lesion prevalence, we retrospectively reviewed all splenectomies and splenic biopsies for splenic masses at a single academic pediatric hospital over a 10-year period in patients 18 years and younger. A total of 31 splenic masses were analyzed. Lesion prevalence, pathology and imaging features associated with sampled splenic masses are described. The lesions encountered include benign splenic cysts (9), vascular anomalies (7), hamartoma (3), leukemia/lymphoma (3), granulomata (3) and metastasis (2). We also identified single cases of angiosarcoma, splenic cord capillary hemangioma, congestive hemorrhage, and benign smooth muscle neoplasm.


Assuntos
Esplenopatias/diagnóstico por imagem , Adolescente , Biópsia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Esplenectomia , Esplenopatias/patologia , Esplenopatias/cirurgia
11.
Vet Radiol Ultrasound ; 61(2): 137-146, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31823453

RESUMO

Multiple published studies involving computed tomographic (CT) examinations of the equine head utilise a wide range of mAs parameters for image acquisition. This prospective, experimental study assessed the effects of lowering mAs during CT image acquisition on image quality and scatter radiation on 10 cadaver equine heads. Each head was scanned three times at 300, 225, and 150 mAs, with all other scanning parameters remaining constant between series. An anthropomorphic phantom was positioned adjacent to each equine head during image acquisition, mimicking a human bystander, with an ionization chamber attached to the phantom at eye level. Each series was reconstructed using filtered back projection, using medium (H30) and high (H80) frequency reconstruction algorithms. Quantitative image quality assessment was performed by calculating signal to noise ratio (SNR) and contrast to noise ratio (CNR). Two qualitative image quality assessments were performed independently by three blinded board certified veterinary radiologists with a 4 week interval, using a visual grade analysis model adapted from peer reviewed medical literature. Ionization chamber measurements, calculated volume CT dose index (CTDIvol), and dose-length product (DLP) were recorded. Halving radiation dose during image acquisition from 300 to 150mAs resulted in comparable image quality between series. There was a statistically significant and linear relationship between mAs and scatter radiation to the bystander; halving mAs during image acquisition resulted in halving of scatter radiation. Results of this cadaveric study support the use of lower mAs settings during standing CT examinations of the equine head.


Assuntos
Cabeça/diagnóstico por imagem , Cavalos/anatomia & histologia , Doses de Radiação , Tomografia Computadorizada por Raios X/veterinária , Algoritmos , Animais , Feminino , Masculino , Variações Dependentes do Observador , Imagens de Fantasmas , Estudos Prospectivos , Interpretação de Imagem Radiográfica Assistida por Computador , Razão Sinal-Ruído , Tomografia Computadorizada por Raios X/métodos
12.
Pediatr Radiol ; 49(4): 551-558, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30607436

RESUMO

BACKGROUND: The classic metaphyseal lesion (CML) is a strong indicator of infant abuse, and the distal tibia is one of the most common sites for this injury. OBJECTIVE: To determine the prevalence of subperiosteal new bone formation accompanying the distal tibial CMLs identified on infant skeletal surveys. MATERIALS AND METHODS: Skeletal surveys performed for suspected infant abuse (2005-2017) were reviewed. Inclusion criteria were 1) anteroposterior (AP) and lateral radiographs of a distal tibial CML from the initial survey, 2) AP radiograph from the 2-week follow-up survey, 3) additional fractures, 4) child protection team consults and 5) mandated report filing for suspected abuse. We identified 22 distal tibial CMLs from 16 infants. Radiographs of these lesions were shown on the picture archiving and communication system to two blinded pediatric radiologists. Readers indicated the presence/absence of subperiosteal new bone formation on individual and combinations of images. RESULTS: Inter-reader agreements were fair (kappa=0.47). The prevalence of subperiosteal new bone formation on initial AP radiograph was 34%. Significant increases in the prevalence were found with the addition of follow-up AP radiograph (57%; P<0.001), initial lateral radiograph (57%; P=0.002) and follow-up AP plus initial lateral radiographs (71%; P<0.001). Statistically significant increases in prevalence were also noted when the third view was added to the other two views (increase of 14%; P=0.024). CONCLUSION: Even when skeletal surveys include initial AP, lateral and follow-up AP radiographs of the tibia, nearly one-third of distal tibial CMLs will fail to demonstrate subperiosteal new bone formation.


Assuntos
Maus-Tratos Infantis/diagnóstico , Osteogênese/fisiologia , Tíbia/diagnóstico por imagem , Tíbia/lesões , Fraturas da Tíbia/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prevalência
14.
J Magn Reson Imaging ; 44(6): 1650-1655, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27159847

RESUMO

PURPOSE: To evaluate the feasibility of using diffusion-weighted magnetic resonance imaging (DW-MRI) to assess the fetal lung apparent diffusion coefficient (ADC) at 3 Tesla (T). MATERIALS AND METHODS: Seventy-one pregnant women (32 second trimester, 39 third trimester) were scanned with a twice-refocused Echo-planar diffusion-weighted imaging sequence with 6 different b-values in 3 orthogonal diffusion orientations at 3T. After each scan, a region-of-interest (ROI) mask was drawn to select a region in the fetal lung and an automated robust maximum likelihood estimation algorithm was used to compute the ADC parameter. The amount of motion in each scan was visually rated. RESULTS: When scans with unacceptable levels of motion were eliminated, the lung ADC values showed a strong association with gestational age (P < 0.01), increasing dramatically between 16 and 27 weeks and then achieving a plateau around 27 weeks. CONCLUSION: We show that to get reliable estimates of ADC values of fetal lungs, a multiple b-value acquisition, where motion is either corrected or considered, can be performed. J. Magn. Reson. Imaging 2016;44:1650-1655.


Assuntos
Envelhecimento/fisiologia , Imagem de Tensor de Difusão/métodos , Idade Gestacional , Pulmão/embriologia , Pulmão/fisiologia , Diagnóstico Pré-Natal/métodos , Difusão , Estudos de Viabilidade , Feminino , Humanos , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Pulmão/diagnóstico por imagem , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estatística como Assunto
15.
Pediatr Radiol ; 46(3): 342-56, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26637315

RESUMO

BACKGROUND: Bone age in infants (<1 year old) is generally estimated using hand/wrist or knee radiographs, or by counting ossification centers. The accuracy and reproducibility of these techniques are largely unknown. OBJECTIVE: To develop and validate an infant bone age estimation technique using fibular shaft length and compare it to conventional methods. MATERIALS AND METHODS: We retrospectively reviewed negative skeletal surveys of 247 term-born low-risk-of-abuse infants (no persistent child protection team concerns) from July 2005 to February 2013, and randomized them into two datasets: (1) model development (n = 123) and (2) model testing (n = 124). Three pediatric radiologists measured all fibular shaft lengths. An ordinary linear regression model was fitted to dataset 1, and the model was evaluated using dataset 2. Readers also estimated infant bone ages in dataset 2 using (1) the hemiskeleton method of Sontag, (2) the hemiskeleton method of Elgenmark, (3) the hand/wrist atlas of Greulich and Pyle, and (4) the knee atlas of Pyle and Hoerr. For validation, we selected lower-extremity radiographs of 114 normal infants with no suspicion of abuse. Readers measured the fibulas and also estimated bone ages using the knee atlas. Bone age estimates from the proposed method were compared to the other methods. RESULTS: The proposed method outperformed all other methods in accuracy and reproducibility. Its accuracy was similar for the testing and validating datasets, with root-mean-square error of 36 days and 37 days; mean absolute error of 28 days and 31 days; and error variability of 22 days and 20 days, respectively. CONCLUSION: This study provides strong support for an infant bone age estimation technique based on fibular shaft length as a more accurate alternative to conventional methods.


Assuntos
Determinação da Idade pelo Esqueleto/métodos , Fíbula/anatomia & histologia , Fíbula/diagnóstico por imagem , Modelos Biológicos , Modelos Estatísticos , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Simulação por Computador , Feminino , Fíbula/fisiologia , Humanos , Lactente , Recém-Nascido , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Método Simples-Cego
16.
N Engl J Med ; 367(23): 2226-32, 2012 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-23215558

RESUMO

Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, nucleotide-level complement to conventional genetic diagnostics within a time frame that allows for clinical action. We performed large-insert sequencing of DNA extracted from amniotic-fluid cells with a balanced de novo translocation. The amniotic-fluid sample was from a patient in the third trimester of pregnancy who underwent amniocentesis because of severe polyhydramnios after multiple fetal anomalies had been detected on ultrasonography. Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies). Clinical findings at birth were consistent with the CHARGE syndrome, a diagnosis that could not have been reliably inferred from the cytogenetic breakpoint. This case study illustrates the potential power of customized whole-genome jumping libraries when used to augment prenatal karyotyping.


Assuntos
Síndrome CHARGE/genética , Transtornos Cromossômicos/diagnóstico , Testes Genéticos/métodos , Biblioteca Genômica , Cardiopatias Congênitas/genética , Análise de Sequência com Séries de Oligonucleotídeos , Diagnóstico Pré-Natal/métodos , Adulto , Síndrome CHARGE/diagnóstico , Aberrações Cromossômicas , Feminino , Doenças Fetais/diagnóstico , Genoma Humano , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Cariótipo , Mutação , Gravidez , Translocação Genética , Ultrassonografia Pré-Natal
17.
BMC Med Res Methodol ; 14: 13, 2014 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-24461045

RESUMO

BACKGROUND: Gestational diabetes mellitus (GDM) is a risk factor for the development of type 2 diabetes. Lifestyle intervention can prevent progression to type 2 diabetes in high risk populations. We designed a randomised controlled trial (RCT) to evaluate the effectiveness of an established lifestyle intervention compared to standard care for delaying diabetes onset in European women with recent GDM. Recruitment into the RCT was more challenging than anticipated with only 89 of 410 (22%) women agreeing to participate. This paper identifies factors that could enhance participation of the target population in future interventions. METHODS: We hypothesised that women who agreed to participate would have higher diabetes risk profiles than those who declined, and secondly that it would be possible to predict participation on the bases of those risk factors. To test our hypothesis, we identified the subset of women for whom we had comprehensive data on diabetes risks factors 3-5 years following GDM, reducing the sample to 43 participants and 73 decliners. We considered established diabetes risk factors: smoking, daily fruit and vegetable intake, participation in exercise, family history of diabetes, glucose values and BMI scores on post-partum re-screens, use of insulin during pregnancy, and age at delivery. We also analysed narrative data from 156 decliners to further understand barriers to and facilitators of participation. RESULTS: Two factors differentiated participants and decliners: age at delivery (with women older than 34 years being more likely to participate) and insulin use during pregnancy (with women requiring the use of insulin in pregnancy less likely to participate). Binary logistic regression confirmed that insulin use negatively affected the odds of participation. The most significant barriers to participation included the accessibility, affordability and practicality of the intervention. CONCLUSIONS: Women with recent GDM face multiple barriers to lifestyle change. Intervention designers should consider: (i) the practicalities of participation for this population, (ii) research designs that capitalise on motivational differences between participants, (iii) alleviating concerns about long-term diabetes management. We hope this work will support future researchers in developing interventions that are more relevant, effective and successful in recruiting the desired population. TRIAL REGISTRATION: Current Controlled Trials ISRCTN41202110.


Assuntos
Diabetes Mellitus Tipo 2/prevenção & controle , Diabetes Gestacional , Cooperação do Paciente/psicologia , Recusa de Participação/psicologia , Fatores Etários , Exercício Físico , Feminino , Humanos , Insulina/uso terapêutico , Estilo de Vida , Gravidez , Fatores de Risco , Inquéritos e Questionários
18.
J Public Health (Oxf) ; 36(4): 644-50, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24338795

RESUMO

BACKGROUND: Despite the benefits of cardiac rehabilitation, uptake and adherence remain suboptimal. With the advent of NHS Health Checks, primary prevention programmes have also been advocated, but little is known about uptake and adherence rates. This study examined rates and predictors of adherence amongst patients with cardiovascular disease (CVD) and those at high multifactorial risk (HRI) attending an innovative programme integrating primary and secondary prevention. METHODS: Comparison of rates of uptake and adherence and also predictors of adherence between 401 CVD patients and 483 HRI. The outcome was the number of sessions attended and predictor variables included clinical and psychosocial variables. Differences between groups were examined using t-tests and non-parametric tests. Multivariable regression analyses examined predictors of adherence. RESULTS: Uptake to the assessment (CVD: 97%, HRI: 88%) and the programme (CVD: 78%, HRI: 74%) were high for both groups. An average of 8/12 was attended in both groups. Beliefs about treatment predicted adherence for both groups (P < 0.01). The alcohol causal belief also predicted poorer adherence amongst CVD patients (P < 0.02). Older age also predicted better adherence amongst HRI (P < 0.001). CONCLUSIONS: Rates of uptake and adherence were high for both HRI and CVD patients. Further research is needed to examine whether interventions targeting predictor variables further improve adherence.


Assuntos
Doenças Cardiovasculares/prevenção & controle , Doenças Cardiovasculares/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Cooperação do Paciente/psicologia , Cooperação do Paciente/estatística & dados numéricos , Adulto , Distribuição por Idade , Idoso , Reabilitação Cardíaca , Serviços de Saúde Comunitária , Depressão/epidemiologia , Humanos , Pessoa de Meia-Idade , Serviços Preventivos de Saúde , Prevenção Primária , Análise de Regressão , Estudos Retrospectivos , Prevenção Secundária , Reino Unido
19.
J Sch Nurs ; 30(1): 42-8, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23727844

RESUMO

Though historically confined to hospital settings, methicillin-resistant Staphylococcus aureus (MRSA) has received increasing attention in the wider community, particularly among athletes. A 2007-2008 investigation in Nebraska concluded that MRSA skin infections were an emerging problem among the state's student athletes. Statewide surveillance was subsequently conducted during 4 school years (2008-2012) to estimate incidence of skin and soft tissue infections (SSTI) consistent with MRSA among student athletes. High school athletic officials completed Internet-based surveys following winter and fall sport seasons. Over 3 school years, incidence estimates per 10,000 athletes decreased substantially from 20.9 (2008-2009) to 11.3 (2010-2011) among football players and from 60.8 (2008-2009) to 28.1 (2010-2011) among wrestlers. Following the 2011-2012 sport seasons, however, incidence estimates increased to 16.6 per 10,000 football players and 43.3 per 10,000 wrestlers. School nurses should support school officials to prioritize prevention and control efforts for SSTI, including MRSA.


Assuntos
Inquéritos Epidemiológicos/métodos , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Infecções dos Tecidos Moles/epidemiologia , Infecções Estafilocócicas/epidemiologia , Adolescente , Atletas , Inquéritos Epidemiológicos/estatística & dados numéricos , Humanos , Incidência , Internet , Nebraska , Instituições Acadêmicas , Infecções Cutâneas Estafilocócicas/epidemiologia , Estudantes
20.
Br J Health Psychol ; 29(1): 149-164, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37722874

RESUMO

OBJECTIVE: Digital cardiac rehabilitation (CR) has emerged as a promising alternative to in-person CR. Understanding patients' experiences and perceptions can provide valuable insights into what makes these programmes successful and identify opportunities for improvement. This study aimed to explore patients' experiences of digital CR and to understand the factors that make these programmes successful. DESIGN: A qualitative approach was taken. METHODS: From March to August 2022, we conducted semi-structured interviews with patients who were referred to one of two digital CR programmes offered on the island of Ireland. Interviews were audio-recorded, transcribed verbatim and analysed using reflexive thematic analysis. A public and patient involvement panel guided the recruitment strategy and assisted with data analysis. RESULTS: Eleven patients, predominantly male (82%) and with a mean age of 64 (range 50-75), participated in the study. Five themes were developed: (1) Empowered patients; (2) Controlling the recovery; (3) At home but not alone; (4) The world at your (digital) doorstep and; (5) Challenges of interacting online. Participants reported that digital CR equipped them with the necessary tools and support to modify their lifestyle and effectively manage their recovery. However, the opportunities for social interaction were limited and communicating online was not always straightforward. CONCLUSIONS: Participants reported that digital CR guided them towards recovery and improved their sense of empowerment and control. However, the limited opportunities for social interaction may represent a challenge for patients seeking social support.


Assuntos
Reabilitação Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Pesquisa Qualitativa , Apoio Social , Estilo de Vida , Avaliação de Resultados da Assistência ao Paciente
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