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1.
Ir Med J ; 115(5): 598, 2022 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-35696288

RESUMO

Aims Developmental dysplasia of the hip (DDH) is an important cause of disability in children and young adults. Early diagnosis and treatment can help avoid more invasive interventions and long-term morbidity. This study examines the ultrasound screening programme conducted in University Hospital Waterford (UHW), and the outcomes for infants with DDH in the Southeast of Ireland. Methods We conducted an audit of all the DDH screening ultrasounds performed in UHW in the year 2020, a total of 992 infants. Data included referral and ultrasound times, screening results, interventions, and outcomes. Results Of those screened, 255 (26%) were referred to the Orthopaedic clinic, with a significant female majority of nearly 3:1. At the time of writing, only two infants were ultimately referred for further management of persistent DDH, the rest being successfully treated by less invasive interventions such as harnessing and bracing. There were no babies scanned within the recommended 6 weeks who later presented with a dislocated hip or required tertiary referral for DDH management. Conclusion The ultrasound screening programme in UHW is shown to be successful in the prompt diagnosis and early treatment of DDH. This plays a significant role in avoiding the lifelong disabling outcomes of untreated DDH, and the invasive surgical procedures required in the management of late-stage disease.


Assuntos
Displasia do Desenvolvimento do Quadril , Luxação Congênita de Quadril , Criança , Feminino , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/epidemiologia , Luxação Congênita de Quadril/terapia , Humanos , Lactente , Recém-Nascido , Triagem Neonatal/métodos , Exame Físico/métodos , Ultrassonografia
2.
Orphanet J Rare Dis ; 17(1): 69, 2022 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-35189933

RESUMO

BACKGROUND: Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We hypothesised that COVID-19, a viral infection which more severely affects people with these conditions, would, in people with PWS, present atypically and result in severe outcomes. METHOD: A structured on-line questionnaire was piloted with parents and professionals at the International Prader-Willi Syndrome Organization (IPWSO) and promoted internationally through their global network. Family members/other carers were asked to complete if someone they cared for with PWS was strongly suspected or confirmed as having COVID-19. RESULTS: Over 1 year of the pandemic 72 responses were received, 47 adults, 25 children. The following underlying conditions were present: 16 people with PWS were overweight and 18 obese, five had diabetes mellitus and 18 sleep apnoea. Main presenting symptoms were raised temperature, fatigue/daytime sleepiness, dry cough, headache/pain, and feeling unwell, with illnesses generally lasting less than a week. Length of illness was not significantly related to age, BMI, sex, or genetic subtype. No one was ventilated or in an intensive care unit or died, one person was in hospital for four days needing oxygen. CONCLUSIONS: Contrary to our hypothesis, the PWS cohort had asymptomatic infection or mild illness. A possible explanation, supported by anecdotal evidence from parents and professional carers, is that people with PWS have a degree of innate immunity to viral infections. However, likely selection effects and a relatively low number of responses means that further evidence is needed to test this hypothesis.


Assuntos
COVID-19 , Síndrome de Prader-Willi , Adulto , Criança , Humanos , Obesidade/etiologia , Síndrome de Prader-Willi/genética , SARS-CoV-2 , Inquéritos e Questionários
3.
Eur J Cancer Prev ; 30(6): 423-430, 2021 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-34545020

RESUMO

BACKGROUND AND AIMS: The overall evidence on the association between gallbladder conditions (GBC: gallstones and cholecystectomy) and pancreatic cancer (PC) is inconsistent. To our knowledge, no previous investigations considered the role of tumour characteristics on this association. Thus, we aimed to assess the association between self-reported GBC and PC risk, by focussing on timing to PC diagnosis and tumour features (stage, location, and resection). METHODS: Data derived from a European case-control study conducted between 2009 and 2014 including 1431 PC cases and 1090 controls. We used unconditional logistic regression models to estimate odds ratios (ORs) and corresponding 95% confidence intervals (CIs) adjusted for recognized confounders. RESULTS: Overall, 298 (20.8%) cases and 127 (11.6%) controls reported to have had GBC, corresponding to an OR of 1.70 (95% CI 1.33-2.16). The ORs were 4.84 (95% CI 2.96-7.89) for GBC diagnosed <3 years before PC and 1.06 (95% CI 0.79-1.41) for ≥3 years. The risk was slightly higher for stage I/II (OR = 1.71, 95% CI 1.15-2.55) vs. stage III/IV tumours (OR = 1.23, 95% CI 0.87-1.76); for tumours sited in the head of the pancreas (OR = 1.59, 95% CI 1.13-2.24) vs. tumours located at the body/tail (OR = 1.02, 95% CI 0.62-1.68); and for tumours surgically resected (OR = 1.69, 95% CI 1.14-2.51) vs. non-resected tumours (OR = 1.25, 95% CI 0.88-1.78). The corresponding ORs for GBC diagnosed ≥3 years prior PC were close to unity. CONCLUSION: Our study supports the association between GBC and PC. Given the time-risk pattern observed, however, this relationship may be non-causal and, partly or largely, due to diagnostic attention and/or reverse causation.


Assuntos
Doenças da Vesícula Biliar , Neoplasias da Vesícula Biliar , Neoplasias Pancreáticas , Estudos de Casos e Controles , Doenças da Vesícula Biliar/cirurgia , Neoplasias da Vesícula Biliar/diagnóstico , Neoplasias da Vesícula Biliar/epidemiologia , Neoplasias da Vesícula Biliar/etiologia , Humanos , Modelos Logísticos , Pâncreas/patologia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/etiologia , Fatores de Risco , Neoplasias Pancreáticas
4.
J Eur Acad Dermatol Venereol ; 35(2): 517-522, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33070382

RESUMO

BACKGROUND: Little is known about skin-related complications in Klippel-Trenaunay syndrome (KTS), a complex vascular anomaly defined by capillary malformation (CM), venous malformation (VM) ± lymphatic malformation (LM) and limb overgrowth. Reported skin-related complications of KTS include ulceration, vascular ectasias (blebs), bleeding and infection. OBJECTIVE: To determine the spectrum, prevalence and predictors of skin-related complications in KTS. METHODS: A retrospective review of 410 patients fulfilling KTS criteria was performed to assess for the presence of skin-related complications. RESULTS: Skin-related complications were present in 45% of patients. Most prevalent were CM-related complications including blebs, bleeding, thickening (25%), cellulitis (22%) and ulceration (21%). Features positively associated with skin-related complications were presence of LM (OR 17.17; P < 0.001), VM on the buttocks/perineum/genitalia (OR 1.92; P = 0.009), CM on the feet (OR 1.77; P = 0.039) and male sex (OR 1.63; P = 0.034). Features negatively associated with skin-related complications were CM on the trunk (OR 0.59; P = 0.029) and tissue hypertrophy of the hands (OR 0.27; P = 0.025). CONCLUSION: Skin-related complications affect nearly half of patients with KTS. Those with lymphatic involvement or malformation presence in the undergarment area or feet are most at risk.


Assuntos
Síndrome de Klippel-Trenaunay-Weber , Anormalidades Linfáticas , Malformações Vasculares , Capilares , Humanos , Síndrome de Klippel-Trenaunay-Weber/complicações , Síndrome de Klippel-Trenaunay-Weber/epidemiologia , Masculino , Estudos Retrospectivos , Malformações Vasculares/complicações , Malformações Vasculares/epidemiologia
5.
Burns ; 46(7): 1693-1699, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32245570

RESUMO

Electrical burns are an uncommon yet devastating class of burn injuries. Shriners Hospitals for Children - Boston a pediatric burn center in New England and cares for both domestic and international patients. We utilized our experience over the past 13 years to review surgical management and evaluate historical trends for this unique patient group. A retrospective chart review was conducted on 68 patients aged 0-18 years admitted to our pediatric center with an electrical burn from January 2005 to December 2018. We collected and analyzed data pertaining to patient demographics, burn characteristics, clinical course, and surgical interventions. Our cohort included 31 patients from the US (46%) and 37 transferred from a variety of international countries (54%). The majority of US patients were admitted with low voltage burns (81%), whereas the majority of international patients were admitted with high voltage burns (95%). Acute and reconstructive surgical interventions were performed mainly for high voltage burns (94% and 89%). Based on our experience, epidemiology and surgical intervention varied based on voltage of the burn injury and residence of the patient. We have seen a reduction in US pediatric high voltage injuries over the past two decades, likely due to enhancement of electrical safety. It may be possible to use a similar strategy to reduce the frequency of severe high voltage electrical burn injuries in developing countries.


Assuntos
Queimaduras por Corrente Elétrica , Adolescente , Boston , Queimaduras por Corrente Elétrica/epidemiologia , Queimaduras por Corrente Elétrica/cirurgia , Criança , Pré-Escolar , Hospitalização , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Estudos Retrospectivos
6.
J Child Orthop ; 13(5): 457-462, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31695812

RESUMO

PURPOSE: Klippel-Trenaunay syndrome (KTS) is a rare combined vascular malformation composed of capillary malformation, lymphatic and/or venous malformation and limb overgrowth, which commonly affects the extremities. Due to limb involvement, it is not uncommon for these patients to require referral to an orthopaedic surgeon. Herein we reviewed the prevalence of orthopaedic diagnoses in a large cohort of KTS patients and described the associated surgical interventions. METHODS: Between 1976 and 2012, 410 patients fulfilling strict criteria for KTS were evaluated at a single institution. Patient charts were reviewed for demographic information, details of the clinical evaluation, orthopaedic consultation and surgical interventions. RESULTS: A total of 264 of 410 patients (64%) with confirmed KTS required orthopaedic evaluation. Of these 264 patients, 84% had documented limb-length discrepancy. Other common diagnoses included: angular deformities (10%), scoliosis (9%), osteopenia/osteoporosis (7%), pathological fractures (6%), joint contracture (5%), degenerative joint disease (4%) and limb/joint pain (4%). Of the 264 patients evaluated by orthopaedic surgery, 133 patients (50.4%) underwent 169 surgeries. Surgery was most commonly performed for limb-length discrepancy (62%). Multivariable analysis confirmed an orthopaedic condition was more likely in patients with lymphatic malformation (odds ratio (OR) 3.78; p < 0.001), as well as in those with bone and/or soft-tissue hypertrophy of the lower extremity (OR 7.51; p < 0.001) or foot (OR 3.23; p < 0.001). CONCLUSION: Orthopaedic conditions are common in patients with KTS and approximately 50% require surgical intervention. Those with a lymphatic malformation and/or soft-tissue hypertrophy of the lower extremity are more likely to need surgery. LEVEL OF EVIDENCE: Level IV, Descriptive Case Series.

8.
J Cancer Surviv ; 12(5): 691-701, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30083972

RESUMO

PURPOSE: To describe (a) the conceptualization, purpose, and features of The American Cancer Society's Cancer Survivors Network® (CSN; http://csn.cancer.org ), (b) the ongoing two-phase evaluation process of CSN, and (c) the characteristics of CSN members. METHODS: An online opt-in self-report survey of CSN members (N = 4762) was conducted and digital metrics of site use were collected. RESULTS: Annually, CSN attracts over 3.6 million unique users from over 200 countries/territories. Most commonly used site features are discussion boards (81.1%), the search function (63.8%), and the member resource library (50.2%). The survey sample is mostly female (69.6%), non-Hispanic white (84.1%), and self-identified as a cancer survivor (49.8%), or both cancer survivor and cancer caregiver (31.9%). A larger number of survey respondents reported head and neck cancer (12.5%), relative to cancer incidence/prevalence data. CONCLUSIONS: The volume of CSN traffic suggests high demand among cancer survivors and caregivers for informational and/or emotional support from other cancer survivors and caregivers. CSN may be particularly beneficial for individuals with rare cancers. Furthermore, this study documents a group of individuals whose cancer experience is multifaceted (e.g., survivors became caregivers or vice versa), and for whom CSN has the capacity to provide support at multiple points during their cancer experiences. IMPLICATIONS FOR CANCER SURVIVORS: CSN is a free, internet-based social networking site available to all cancer survivors and caregivers, worldwide. Evaluation of the site is ongoing and will be used to inform improvements to usability, reach, recruitment, retention, and potential health impact(s) of this valuable resource.


Assuntos
American Cancer Society/organização & administração , Sobreviventes de Câncer/estatística & dados numéricos , Redes Sociais Online , Rede Social , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Estados Unidos
9.
Int J Epidemiol ; 47(2): 473-483, 2018 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-29329392

RESUMO

Background: Family history (FH) of pancreatic cancer (PC) has been associated with an increased risk of PC, but little is known regarding the role of inherited/environmental factors or that of FH of other comorbidities in PC risk. We aimed to address these issues using multiple methodological approaches. Methods: Case-control study including 1431 PC cases and 1090 controls and a reconstructed-cohort study (N = 16 747) made up of their first-degree relatives (FDR). Logistic regression was used to evaluate PC risk associated with FH of cancer, diabetes, allergies, asthma, cystic fibrosis and chronic pancreatitis by relative type and number of affected relatives, by smoking status and other potential effect modifiers, and by tumour stage and location. Familial aggregation of cancer was assessed within the cohort using Cox proportional hazard regression. Results: FH of PC was associated with an increased PC risk [odds ratio (OR) = 2.68; 95% confidence interval (CI): 2.27-4.06] when compared with cancer-free FH, the risk being greater when ≥ 2 FDRs suffered PC (OR = 3.88; 95% CI: 2.96-9.73) and among current smokers (OR = 3.16; 95% CI: 2.56-5.78, interaction FHPC*smoking P-value = 0.04). PC cumulative risk by age 75 was 2.2% among FDRs of cases and 0.7% in those of controls [hazard ratio (HR) = 2.42; 95% CI: 2.16-2.71]. PC risk was significantly associated with FH of cancer (OR = 1.30; 95% CI: 1.13-1.54) and diabetes (OR = 1.24; 95% CI: 1.01-1.52), but not with FH of other diseases. Conclusions: The concordant findings using both approaches strengthen the notion that FH of cancer, PC or diabetes confers a higher PC risk. Smoking notably increases PC risk associated with FH of PC. Further evaluation of these associations should be undertaken to guide PC prevention strategies.


Assuntos
Neoplasias Pancreáticas/epidemiologia , Fumar/efeitos adversos , Adulto , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Diabetes Mellitus/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Modelos Logísticos , Masculino , Anamnese , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Neoplasias Pancreáticas/genética , Medição de Risco , Fatores de Risco
11.
Ann Oncol ; 28(7): 1618-1624, 2017 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-28383714

RESUMO

BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) is usually diagnosed in late adulthood; therefore, many patients suffer or have suffered from other diseases. Identifying disease patterns associated with PDAC risk may enable a better characterization of high-risk patients. METHODS: Multimorbidity patterns (MPs) were assessed from 17 self-reported conditions using hierarchical clustering, principal component, and factor analyses in 1705 PDAC cases and 1084 controls from a European population. Their association with PDAC was evaluated using adjusted logistic regression models. Time since diagnosis of morbidities to PDAC diagnosis/recruitment was stratified into recent (<3 years) and long term (≥3 years). The MPs and PDAC genetic networks were explored with DisGeNET bioinformatics-tool which focuses on gene-diseases associations available in curated databases. RESULTS: Three MPs were observed: gastric (heartburn, acid regurgitation, Helicobacter pylori infection, and ulcer), metabolic syndrome (obesity, type-2 diabetes, hypercholesterolemia, and hypertension), and atopic (nasal allergies, skin allergies, and asthma). Strong associations with PDAC were observed for ≥2 recently diagnosed gastric conditions [odds ratio (OR), 6.13; 95% confidence interval CI 3.01-12.5)] and for ≥3 recently diagnosed metabolic syndrome conditions (OR, 1.61; 95% CI 1.11-2.35). Atopic conditions were negatively associated with PDAC (high adherence score OR for tertile III, 0.45; 95% CI, 0.36-0.55). Combining type-2 diabetes with gastric MP resulted in higher PDAC risk for recent (OR, 7.89; 95% CI 3.9-16.1) and long-term diagnosed conditions (OR, 1.86; 95% CI 1.29-2.67). A common genetic basis between MPs and PDAC was observed in the bioinformatics analysis. CONCLUSIONS: Specific multimorbidities aggregate and associate with PDAC in a time-dependent manner. A better characterization of a high-risk population for PDAC may help in the early diagnosis of this cancer. The common genetic basis between MP and PDAC points to a mechanistic link between these conditions.


Assuntos
Carcinoma Ductal Pancreático/epidemiologia , Biologia Computacional , Neoplasias Pancreáticas/epidemiologia , Análise de Sistemas , Biologia de Sistemas , Biomarcadores Tumorais/genética , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/genética , Estudos de Casos e Controles , Análise por Conglomerados , Comorbidade , Bases de Dados Genéticas , Europa (Continente)/epidemiologia , Análise Fatorial , Humanos , Modelos Logísticos , Análise Multivariada , Razão de Chances , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Análise de Componente Principal , Medição de Risco , Fatores de Risco , Fatores de Tempo
12.
Eur J Radiol ; 85(3): 524-33, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26860663

RESUMO

PURPOSE: To examine the correlations between uni-dimensional RECIST and volumetric measurements in patients with lung adenocarcinoma and to assess their association with overall survival (OS) and progression-free survival (PFS). MATERIALS AND METHODS: In this study of patients receiving chemotherapy for lung cancer in the setting of a clinical trial, response was prospectively evaluated using RECIST 1.0. Retrospectively, volumetric measurements were recorded and response was assessed by two different volumetric methods at each followup CT scan using a semi-automated segmentation algorithm. We subsequently evaluated the correlation between the uni-dimensional RECIST measurements and the volumetric measurements and performed landmark analyses for OS and PFS at the completion of the first and second follow-ups. Kaplan-Meier curves together with log-rank tests were used to evaluate the association between the different response criteria and patient outcome. RESULTS: Forty-two patients had CT scans at baseline, after the first follow up scan and second followup scan, and then every 8 weeks. The uni-dimensional RECIST measurements and volumetric measurements were strongly correlated, with a Spearman correlation coefficient (ρ) of 0.853 at baseline, ρ=0.861 at the first followup, ρ=0.843 at the 2nd followup, and ρ=0.887 overall between-subject. On first follow-up CT, partial responders and non responders as assessed by an "ellipsoid" volumetric criteria showed a significant difference in OS (p=0.008, 1-year OS of 70% for partial responders and 46% for non responders). There was no difference between the groups when assessed by RECIST criteria on first follow-up CT (p=0.841, 1-year OS rate of 64% for partial responders and 64% for non responders). CONCLUSION: Volumetric response on first follow-up CT may better predict OS than RECIST response. CLINICAL RELEVANCE STATEMENT: Assessment of tumor size and response is of utmost importance in clinical trials. Volumetric measurements may help to better predict OS than uni-dimensional RECIST criteria.


Assuntos
Adenocarcinoma/diagnóstico por imagem , Tomografia Computadorizada de Feixe Cônico/métodos , Neoplasias Pulmonares/diagnóstico por imagem , Critérios de Avaliação de Resposta em Tumores Sólidos , Adenocarcinoma de Pulmão , Adulto , Idoso , Intervalo Livre de Doença , Feminino , Humanos , Pulmão/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento
13.
Ir J Med Sci ; 185(4): 881-886, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26679189

RESUMO

BACKGROUND: Nystagmus in patients with multiple sclerosis (MS) is generally attributed to brainstem disease. Lesions in other regions may result in nystagmus. The identification of these other sites is enhanced by using 3-Tesla magnetic resonance imaging (3TMRI) due to increased signal-to-noise ratio. OBJECTIVE: We sought to evaluate the distribution of structural lesions and disruption of tracts in patients with horizontal nystagmus secondary to MS using 3TMRI. METHODS: Twenty-four patients (20 women, 4 men; age range 26-55 years) with horizontal nystagmus secondary to MS underwent 3TMRI brain scans; and 18 patients had diffusion tensor imaging (DTI) for tractography. RESULTS: Nystagmus was bidirectional in 11, right-sided in 6 and left-sided in 7. We identified 194 lesions in 20 regions within the neural integrator circuit in 24 patients; 140 were within the cortex and 54 were within the brainstem. Only two patients had no lesions in the cortex, and 9 had no lesions in the brainstem. There was no relationship between side of lesion and direction of nystagmus. Thirteen of 18 (72 %) had tract disruption with fractional anisotropy (FA) values below 0.2. FA was significantly lower in bidirectional compared to unidirectional nystagmus (p = 0.006). CONCLUSION: In MS patients with horizontal nystagmus, lesions in all cortical eye fields and their descending connections were evident. Technical improvements in tractography may help identify the specific site(s) resulting in nystagmus in MS.


Assuntos
Imagem de Tensor de Difusão/métodos , Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla/diagnóstico por imagem , Nistagmo Patológico/diagnóstico por imagem , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
14.
J Rare Disord ; 3(2)2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27570781

RESUMO

BACKGROUND: Prader-Willi syndrome (PWS) is a rare obesity-related genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. Substance P (SP) and beta-endorphin (BE) are neuropeptides involved with centrally and peripherally mediated pain perception, emotional regulation, and gastric motility impacting nausea, emesis and feeding patterns. OBJECTIVE: The goal of this study was to investigate potential mechanisms for PWS symptom development for pain, emotion and gastric motility and plasma levels of substance P and beta-endorphin between PWS and unrelated unaffected children. METHODOLOGY: Plasma samples were collected from 23 Caucasian children with PWS and 18 unrelated, unaffected siblings with an average age of 8.2 ±2.0 years and age range of 5 to 11 years following an overnight fast and neuropeptide substance p and beta-endorphin levels were assessed using Multiplex sandwich immunoassays using the Luminex magnetic-bead based platform. Linear regression analysis was carried out on log-transformed values adjusted for age, sex, and body mass index (BMI). RESULTS: The mean plasma SP (57 ± 23 pg/ml) and BE (592 ± 200 pg/ml) levels in PWS were significantly higher than SP (35 ± 20 pg/ml, F=10.5, P<0.01) and BE (402 ± 162 pg/ml, F=10.8, P<0.01) levels found in unrelated, unaffected siblings suggesting a previously uncharacterized neuroendocrine pathophysiology in PWS. CONCLUSIONS: The increased BE and SP plasma levels relative to unrelated, unaffected siblings may contribute to hyperphagia, abnormal pain sensation and adrenal insufficiency seen in PWS. Increases in SP levels may be modulated by central and/or peripheral actions of BE on opioid, GABA or POMC precursors and may reflect loss of feedback inhibitory control. Further studies are needed to confirm and elucidate the biochemical basis for observed disturbances in neuropeptide levels seen in our study and may impact on the development and persistence of symptoms commonly seen in PWS.

15.
Parkinsonism Relat Disord ; 20(6): 578-83, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24674770

RESUMO

Excessive daytime sleepiness (EDS) is common in Parkinson's Disease (PD). Actigraphy uses periods of immobility as surrogate markers of nighttime sleep but there are no examples of its use in assessing EDS of PD. A commercial wrist worn system for measuring bradykinesia and dyskinesia also detects 2 min periods of immobility, which have a 85.2% concordance with the detection of sleep by ambulatory daytime polysomnography, (p < 0.0001 Chi Squared). High Epworth Sleepiness Scores (ESS) were associated with a proportion of time immobile (PTI) (p = 0.01 Mann-Whitney U). The median PTI between 0900 and 1800 h w in 30 age matched control subjects was 2%, representing 10 min and PTI at or above the 75th percentile (5% or 27 min) was taken as a high level. PD patients had higher PTI (median 4.8%) than controls (p < 0.0001, Mann-Whitney U). PD subjects with a high PTI had more bradykinesia, less dyskinesia and higher PDQ39 scores than those with low PTI. There was no relationship between PTI and dose or type of PD medications. However, in 53% of subjects, PTI increased in the 30-60 min after levodopa confirming that in some subjects levodopa results in increased sleepiness. In summary, immobility is a surrogate marker of daytime sleep in PD, confirmed by correlation with PSG and ESS. PD subjects measured this way are more likely to be sleepy and sleepy PD subjects are more likely to be bradykinetic and have a higher PDQ39. Levodopa leads to an increase in sleepiness in more than half of subjects post dosing.


Assuntos
Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/etiologia , Hipocinesia/diagnóstico , Imobilização , Doença de Parkinson/complicações , Acelerometria , Adulto , Idoso , Idoso de 80 Anos ou mais , Discinesias/diagnóstico , Discinesias/etiologia , Feminino , Humanos , Hipocinesia/etiologia , Masculino , Pessoa de Meia-Idade , Polissonografia
16.
Mol Syndromol ; 4(5): 235-45, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23885230

RESUMO

CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic overlap. We further explored this clinical overlap and proposed recommendations for the genetic diagnosis of both syndromes. We described 2 patients clinically diagnosed with CHARGE syndrome, who were found to carry a 22q11.2 deletion, and searched the literature for more cases. In addition, we screened our cohort of CHD7 mutation carriers (n = 802) for typical 22q11.2 deletion features and studied CHD7 in 20 patients with phenotypically 22q11.2 deletion syndrome but without haploinsufficiency of TBX1. In total, we identified 5 patients with a clinical diagnosis of CHARGE syndrome and a proven 22q11.2 deletion. Typical 22q11.2 deletion features were found in 30 patients (30/802, 3.7%) of our CHD7 mutation-positive cohort. We found truncating CHD7 mutations in 5/20 patients with phenotypically 22q11.2 deletion syndrome. Differentiating between CHARGE and 22q11.2 deletion syndromes can be challenging. CHD7 and TBX1 probably share a molecular pathway or have common target genes in affected organs. We strongly recommend performing CHD7 analysis in patients with a 22q11.2 deletion phenotype without TBX1 haploinsufficiency and conversely, performing a genome-wide array in CHARGE syndrome patients without a CHD7 mutation.

17.
J Hum Nutr Diet ; 26(1): 2-9, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23078343

RESUMO

BACKGROUND: Children with Prader-Willi syndrome (PWS) have a predictable pattern of weight gain, with obesity beginning in early childhood and worsening as they get older and hyperphagia increases. Data on the most effective dietary modifications are scant and primarily anecdotal. As part of a longitudinal study investigating the natural history of PWS, we evaluated the effect of a well-balanced, energy-restricted diet on body composition and weight in young children with PWS. METHODS: Sixty-three children, aged 2-10 years, with genetically proven PWS participated in the present study. These children had measurements of body composition by dual-energy X-ray absorptiometry and resting energy expenditure (REE), as well as a 3-day diet history analysis both before and after intervention. Energy calculations were based on the individual's REE, with the recommendation that the macronutrients of the diet consist of 30% fat, 45% carbohydrates and 25% protein, with at least 20 g of fibre per day. RESULTS: Thirty-three families adhered to our dietary recommendations for both energy intake and macronutrient distribution. Those 33 children had lower body fat (19.8% versus 41.9%; P < 0.001) and weight management (body mass index SD score 0.3 versus 2.23; P < 0.001) than those whose parents followed the energy intake recommendations but did not alter the macronutrient composition of the diet. Those who followed our recommendations also had a lower respiratory quotient (0.84 versus 0.95; P = 0.002). CONCLUSIONS: Our recommendation for an energy-restricted diet with a well-balanced macronutrient composition and fibre intake improves both weight and body composition in children with PWS compared to a simple energy-restricted diet.


Assuntos
Tecido Adiposo/metabolismo , Composição Corporal , Peso Corporal , Restrição Calórica , Dieta , Comportamento Alimentar , Síndrome de Prader-Willi/dietoterapia , Absorciometria de Fóton , Metabolismo Basal , Índice de Massa Corporal , Criança , Pré-Escolar , Ingestão de Energia , Feminino , Humanos , Estudos Longitudinais , Masculino , Obesidade/dietoterapia , Cooperação do Paciente , Síndrome de Prader-Willi/metabolismo
18.
Ir Med J ; 105(6): 172-4, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22973653

RESUMO

This study reviews cases discussed at radiology departmental discrepancy meetings and retrospectively determines patterns of radiological error. All cases discussed since the inception of our departmental discrepancy meetings (20-month period) were reviewed. Discrepancies were classified according to the RADPEER score. The imaging method from which the discrepancy arose was recorded. An attendance log at all meetings was kept. 111 discrepancies were identified in 104 patients. 52 (46.85%) of the 111 discrepancies arose in relation to plain film radiography, 46 (41.44%) to CT, 11 (9.9%) to magnetic resonance imaging, and 2 (1.8%) to nuclear medicine examinations. Several repeating discrepancies were identified. Discrepancy Meetings facilitate collective learning from radiology discrepancies and thereby improve patient safety. They provide radiologists with the invaluable opportunity to reconsider current practice and when indicated to change and improve practice. The majority of discrepancies are due to false negative interpretation and occur primarily in plain film and CT reporting.


Assuntos
Erros de Diagnóstico , Serviço Hospitalar de Radiologia , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Fraturas Ósseas/diagnóstico , Humanos , Masculino , Neoplasias/diagnóstico , Carga de Trabalho
19.
Br J Radiol ; 85(1020): e1309-11, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22932063

RESUMO

The regular use of visual display units (VDUs) at work has been shown to cause the development of a constellation of symptoms ranging from dry eyes to temporary myopia. European workers who use VDUs are now protected under detailed legislation enacted by the European Union (Directive 90/270/EEC). The use of picture archiving and communications systems, which are almost ubiquitous in European countries, means that, as a profession, radiologists fall under the remit of this legislation. This paper aims to assess the impact that full implementation of this law would have on a radiologist's practice and to more broadly examine the issue of eye care as an occupational health issue in radiology. The authors conclude that eye care in the setting of regular VDU use among radiologists is an important quality control and occupational health issue. There is a clear legal basis requiring employers to provide regular eye examinations and reporting breaks. In the absence of leadership from employers on this issue individual radiologists have a responsibility to ensure that their work practices reflect the legal situation and minimise the effect of eye strain on their performance.


Assuntos
Oftalmopatias/prevenção & controle , Doenças Profissionais/prevenção & controle , Saúde Ocupacional/legislação & jurisprudência , Inabilitação do Médico/legislação & jurisprudência , Radiologia/legislação & jurisprudência , Periféricos de Computador , União Europeia , Humanos , Prática Profissional/legislação & jurisprudência
20.
Eval Program Plann ; 35(1): 113-23, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22054531

RESUMO

Children's misuse of harmful legal products (HLPs), including inhaling or ingesting everyday household products, prescription drugs, and over-the-counter drugs, constitutes a serious health problem for American society. This article presents a community prevention model (CPM) focusing on this problem among pre and early adolescents. The model, consisting of a community mobilization strategy and environmental strategies targeting homes, schools, and retail outlets, is designed to increase community readiness and reduce the availability of HLPs, which is hypothesized to reduce HLPs use among children. The CPM is being tested in Alaskan rural communities as part of an inprogress eight-year National Institute on Drug Abuse randomized-controlled trial. This paper presents the CPM conceptual framework, describes the model, and highlights community participation, challenges, and lessons learned from implementation of the model over a 21-month period.


Assuntos
Redes Comunitárias/organização & administração , Redução do Dano , Serviços Preventivos de Saúde/organização & administração , Transtornos Relacionados ao Uso de Substâncias/prevenção & controle , Administração por Inalação , Adolescente , Alaska , Criança , Feminino , Promoção da Saúde/organização & administração , Produtos Domésticos/efeitos adversos , Humanos , Masculino , Modelos Psicológicos , Medicamentos sem Prescrição/efeitos adversos , Medicamentos sob Prescrição/efeitos adversos , Avaliação de Programas e Projetos de Saúde , População Rural
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