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1.
Histopathology ; 84(7): 1199-1211, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38409885

RESUMO

AIMS: Intracranial germ cell tumour (IGCT) is a type of rare central nervous system tumour that mainly occurs in children and adolescents, with great variation in its incidence rate and molecular characteristics in patients from different populations. The genetic alterations of IGCT in the Chinese population are still unknown. METHODS AND RESULTS: In this study, 47 patients were enrolled and their tumour specimens were analysed by whole-exome sequencing (WES). We found that KIT was the most significantly mutated gene (15/47, 32%), which mainly occurred in the germinoma group (13/20, 65%), and less frequently in NGGCT (2/27, 7%). Copy number variations (CNVs) of FGF6 and TFE3 only appeared in NGGCT patients (P = 0.003 and 0.032, respectively), while CNVs of CXCR4, RAC2, PDGFA, and FEV only appeared in germinoma patients (P = 0.004 of CXCR4 and P = 0.027 for the last three genes). Compared with a previous Japanese cohort, the somatic mutation rates of RELN and SYNE1 were higher in the Chinese. Prognostic analysis showed that the NF1 mutation was associated with shorter overall survival and progression-free survival in IGCT patients. Clonal evolution analysis revealed an early branched evolutionary pattern in two IGCT patients who underwent changes in the histological subtype or degree of differentiation during disease surveillance. CONCLUSION: This study indicated that Chinese IGCT patients may have distinct genetic characteristics and identified several possible genetic alterations that have the potential to become prognostic biomarkers of NGGCT patients.


Assuntos
Neoplasias Encefálicas , Sequenciamento do Exoma , Neoplasias Embrionárias de Células Germinativas , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Povo Asiático/genética , Biomarcadores Tumorais/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , China/epidemiologia , Variações do Número de Cópias de DNA , População do Leste Asiático , Mutação , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Embrionárias de Células Germinativas/patologia , Prognóstico , Proteína Reelina
2.
Med J Aust ; 218(3): 126-130, 2023 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-36707898

RESUMO

OBJECTIVE: To determine the prevalence in Australia of bone health assessment of men with prostate cancer by dual-energy x-ray absorptiometry (DXA), from six months before to twelve months after initiation of androgen deprivation therapy (ADT). DESIGN, SETTING: Cross-sectional national study; linkage of de-identified Medicare Benefits Schedule (MBS) and Pharmaceutical Benefits Scheme (PBS) data. PARTICIPANTS: Men (18 years or older) first dispensed PBS-subsidised ADT during 1 May 2017 - 31 July 2020. MAIN OUTCOME MEASURES: Prevalence of MBS-subsidised DXA assessments undertaken from six months before to twelve months after first ADT prescription. RESULTS: Of 33 836 men with prostate cancer commencing ADT therapy during 2017-20, 6683 (19.8%) underwent DXA bone heath assessments between six months before and twelve months after commencing ADT; the mean time from first ADT dispensing to DXA scanning was +90 days (standard deviation, 134 days). The proportion of men aged 54 years or younger who had scans (66 of 639, 10%) was smaller than that of men aged 70-84 years (4528 of 19 378, 23.4%; adjusted odds ratio, 0.36; 95% CI, 0.28-0.47). CONCLUSIONS: For about 80% of men with prostate cancer commencing ADT in Australia, therapy initiation was not accompanied by DXA assessment of bone health. Given the excellent long term prognosis for men with prostate cancer and the availability of bone protective therapy, bone health monitoring should be a routine component of prostate cancer care for men receiving ADT.


Assuntos
Osteoporose , Neoplasias da Próstata , Masculino , Humanos , Idoso , Absorciometria de Fóton , Osteoporose/complicações , Densidade Óssea , Neoplasias da Próstata/terapia , Androgênios , Antagonistas de Androgênios , Estudos Transversais , Austrália , Programas Nacionais de Saúde
3.
Intern Med J ; 53(8): 1450-1457, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-35670212

RESUMO

BACKGROUND: Gout is a common chronic inflammatory disorder due to monosodium urate deposition, which results in severe inflammatory arthritis. It is particularly common in those of Maori or Pacific Islander heritage. There is a significant number of this at-risk ethnic group in western Sydney. AIMS: To determine the healthcare burden of gout in Western Sydney. METHODS: We characterised patients managed in the emergency departments (EDs) of the four Western Sydney Local Health District (WSLHD) hospitals and those admitted for gout as the primary or secondary diagnosis from 1 January 2017 to 31 December 2018. RESULTS: There were 472 patients managed in ED on 552 occasions at a direct cost to the LHD of A$367 835. Those of Maori or Pacific Islander ethnicity comprised 25.2% (n = 119/472), while half (n = 39/80) of those managed in ED for gout on two or more occasions were of Maori or Pacific Islander ethnicity. Overall, 310 patients were admitted with gout as the principal diagnosis on 413 occasions at a cost of A$1.73 million. Seventy-five (24.2%) of the 310 patients were of Maori or Pacific Islander heritage. A total of 584 WSLHD inpatients had gout as a secondary diagnosis. This was associated with 714 admissions. CONCLUSIONS: The disproportionately large healthcare burden of gout in Western Sydney from the relatively small Maori and Pacific Islander population needs attention. Urgent culturally appropriate interventions to address gout are required to address this inequality.


Assuntos
Gota , Povo Maori , População das Ilhas do Pacífico , Humanos , Efeitos Psicossociais da Doença , Atenção à Saúde/etnologia , Atenção à Saúde/estatística & dados numéricos , Gota/diagnóstico , Gota/epidemiologia , Gota/etnologia , Gota/terapia , Povo Maori/estatística & dados numéricos , New South Wales/epidemiologia , População das Ilhas do Pacífico/estatística & dados numéricos , Ácido Úrico
4.
J Arthroplasty ; 38(1): 124-128, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35931268

RESUMO

BACKGROUND: For hospitals participating in bundled payment programs, unplanned readmissions after surgery are often termed "bundle busters." The aim of this study was to develop the framework for a prospective model to predict 90-day unplanned readmissions after elective primary total hip arthroplasty (THA) at a macroscopic hospital-based level. METHODS: A national, all-payer, inpatient claims and cost accounting database was used. A mixed-effect logistic regression model measuring the association of unplanned 90-day readmissions with a number of patient-level and hospital-level characteristics was constructed. RESULTS: Using 427,809 unique inpatient THA encounters, 77 significant risk factors across 5 domains (ie, comorbidities, demographics, surgical history, active medications, and intraoperative factors) were identified. The highest frequency domain was comorbidities (64/100) with malignancies (odds ratio [OR] 2.26), disorders of the respiratory system (OR 1.75), epilepsy (OR 1.5), and psychotic disorders (OR 1.5), being the most predictive. Other notable risk factors identified by the model were the use of opioid analgesics (OR 7.3), Medicaid coverage (OR 1.8), antidepressants (OR 1.6), and blood-related medications (OR 1.6). The model produced an area under the curve of 0.715. CONCLUSION: We developed a novel model to predict unplanned 90-day readmissions after elective primary THA. Fifteen percent of the risk factors are potentially modifiable such as use of tranexamic acid, spinal anesthesia, and opioid medications. Given the complexity of the factors involved, hospital systems with vested interest should consider incorporating some of the findings from this study in the form of electronic medical records predictive analytics tools to offer clinicians with real-time actionable data.


Assuntos
Artroplastia de Quadril , Estados Unidos , Humanos , Artroplastia de Quadril/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Fatores de Tempo , Readmissão do Paciente , Fatores de Risco , Estudos Retrospectivos
5.
Paediatr Child Health ; 28(4): 208-211, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37287476

RESUMO

The Canadian Paediatric Society's Position statement 'Dietary exposures and allergy prevention in high-risk infants' December 2021 provides recommendations for regular ingestion of cow's milk protein (CMP) once introduced in early infancy. These recommendations are based on evidence from randomized controlled trials (RCTs) where researchers supported participants in adhering to diet recommendations. Real-life dilemmas that relate to dietary adherence including cost, food wastage, and practicality are not addressed and are the crux of where -evidence-based recommendations fail. This commentary highlights the difficulties in carrying out the proposed recommendation for regular ingestion of CMP in practice and offers three practical real-world options instead.

6.
Intern Med J ; 52(10): 1717-1723, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-34028145

RESUMO

BACKGROUND: Rheumatoid arthritis (RA) is a common autoimmune disease where methotrexate (MTX) is widely used as the first-line therapy. The combination of RA and MTX is associated with lymphoproliferative disorders (LPD). RA patients with Epstein-Barr virus (EBV) have impaired T-lymphocyte function, thus allowing an overgrowth of EBV-positive lymphoblastoid cells. We examined the association of EBV with LPD in immunosuppressed RA patients, particularly those treated with MTX. AIM: To review the relationship between RA, EBV-associated LPD and MTX use. METHODS: We reported two cases of RA patients with long-term MTX treatment who subsequently developed EBV-positive LPD, followed by a review of the relevant literature. RESULTS: Compared with normal population, RA patients have a higher risk of lymphoma, with diffuse large B-cell lymphoma being the most common subtype. MTX withdrawal can lead to lymphoma regression. Other biological therapies, such as abatacept and tocilizumab, are not associated with increased EBV-positive lymphoma diagnosis in RA patients. CONCLUSION: The association between EBV, lymphoma and MTX highlights the need to consider reducing or stopping MTX in patients who have had stable RA for many years.


Assuntos
Artrite Reumatoide , Infecções por Vírus Epstein-Barr , Linfoma Difuso de Grandes Células B , Transtornos Linfoproliferativos , Humanos , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/tratamento farmacológico , Metotrexato/efeitos adversos , Herpesvirus Humano 4 , Abatacepte/uso terapêutico , Artrite Reumatoide/complicações , Artrite Reumatoide/tratamento farmacológico , Transtornos Linfoproliferativos/induzido quimicamente , Transtornos Linfoproliferativos/complicações , Transtornos Linfoproliferativos/epidemiologia , Imunossupressores/efeitos adversos
7.
Pediatr Emerg Care ; 38(2): e1028-e1029, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33900715

RESUMO

ABSTRACT: Congenital diaphragmatic hernia (CDH) is associated with high early mortality. However, advances in newborn care have led to improved survival into adolescence and early adulthood. We report a 17-year-old adolescent boy with recurrent small bowel obstruction after CDH repair at 2 days of age. Emergency physicians should be aware of late complications after neonatal CDH repair.


Assuntos
Hérnias Diafragmáticas Congênitas , Obstrução Intestinal , Adolescente , Adulto , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Herniorrafia , Humanos , Recém-Nascido , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Intestino Delgado/cirurgia , Masculino , Recidiva , Estudos Retrospectivos
8.
Dent Traumatol ; 38(3): 244-249, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34927363

RESUMO

Young children often present at the emergency department (ED) with foreign bodies in their mouths, including the occasional bottles and cans. Previous reports of tongue entrapment have presented cases where bottles were mostly made of glass or metal. A 4-year-old girl presented to the ED with her tongue entrapped in a uniquely designed plastic bottle. Attempts at conservative methods of removal such as gentle traction, breaking of the vacuum seal and use of lubricants were unsuccessful. The child was brought to the operating theatre for further management. Anaesthesia induction with a facemask was not possible as the plastic bottle was protruding from the tongue and would not allow an adequate seal around the nose and mouth. To overcome such challenges of a shared airway and workspace, the child was placed under intravenous propofol sedation initially until the prompt removal of foreign body allowed subsequent mask placement and oral intubation. The foreign body was eventually removed by sectioning the inflexible plastic into two pieces with a water-cooled high speed dental diamond bur. The child remained stable intra-operatively and subsequent post-operative recovery was uneventful. This report highlights the importance of multidisciplinary coordination to reduce delays when liberating the entrapped tongue so as to minimize potential complications from the injury.


Assuntos
Corpos Estranhos , Língua , Bebidas Gaseificadas , Criança , Pré-Escolar , Feminino , Corpos Estranhos/cirurgia , Humanos , Boca , Plásticos , Língua/lesões
9.
Healthc Q ; 24(SP): 31-34, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35467508

RESUMO

This article describes the methods, successes and challenges of engaging parents while studying the impacts of COVID-19 on healthy children and families. Parent partners in a Parent and Clinician Team (PACT) informed study aims, supported feasibility and recommended changes to enhance participation. PACT members stated that they felt a sense of connectedness and purpose by contributing to COVID-19 research. Engagement increased by parents acquiring new roles, attending more frequent meetings and co-creating alternative methods of engagement. Recruiting new PACT members was challenging, likely due to limited time and resources available to parents of young children during a pandemic.


Assuntos
COVID-19 , COVID-19/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Pandemias , Pais
10.
Rep Pract Oncol Radiother ; 27(4): 677-683, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36196418

RESUMO

Background: Androgen deprivation therapy (ADT) is a key component of therapy for patients with high-risk prostate carcinoma, but it may be deleterious for bone health. We sought to determine the frequency of dual energy x-ray absorptiometry (DXA) scanning in patients commencing adjuvant ADT for treatment of high-risk prostate cancer at a large integrated regional cancer centre. Material and methods: The electronic medical records (EMR) of all patients with high-risk prostate carcinoma commenced on adjuvant ADT between January 1, 2016 and December 31, 2017 at the Mid-North Coast Cancer Institute, Coffs Harbour, Australia were reviewed. Patients commenced on neoadjuvant ADT and long-term suppressive ADT for metastatic disease were excluded. The following data were obtained: socio-demographic information, prostate cancer data, ADT details and DXA results. Results: 188 men (mean age ± SD, 75.4 ± 7 years) were commenced on adjuvant ADT for a total duration (mean ± SD) of 23.4 ± 7 months. Most (n = 155/188, 82%) were commenced on leuprorelin acetate. While only 26/188 (14%) had a DXA scan performed prior to ADT, another 133 (71%) had a DXA scan at a median of 20 days (interquartile range 7-98), later. Of the 159 men with DXA readings, 76 (48%) were osteopaenic and 38 (24%) were osteoporotic by DXA criteria. Conclusion: A high level (85%) of DXA scanning in men commencing ADT for prostate cancer can be achieved at a regional centre. The high prevalence (72%) of low bone mass in our unselected cohort underscores the importance of routine DXA scanning to guide bone health management during ADT.

11.
Can J Neurol Sci ; 48(6): 839-844, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33472713

RESUMO

INTRODUCTION: Among children with infantile spasms (ISs), those with trisomy 21 (T21) and those with normal development at onset and no identifiable etiology (previously referred to as "idiopathic") are expected to have relatively favorable outcomes. The study objective is to determine if differences exist in treatment response, relapse, and subsequent epilepsy between these two groups when vigabatrin is used as first-line treatment. METHODS: In this retrospective study, patients were classified into the following groups and clinical features were compared: T21 (n = 24) and IS with normal development at onset and no identified etiology (n = 40; control group). RESULTS: There was no significant difference in the age of IS onset, sex distribution, or treatment lag between the groups. The T21 compared to the control group required a higher mean number of anti-seizure therapies (3.6 vs. 1.9, p < 0.001), had more relapses [10 (42%) vs. 4 (10%), p < 0.005)], and had higher risk of subsequent epilepsy [11 (46%) vs. 8 (20%), p < 0.003]. Relapses were often delayed in the T21 group, with a mean of 8 months after IS cessation. CONCLUSION: Our results differ from most studies using steroids as first-line treatment where the groups were shown to have similar treatment response and T21 patients had a low risk of relapse and subsequent epilepsy. Therefore, our results suggest that vigabatrin as first-line treatment in T21 with IS may be less favorable than steroids.


Assuntos
Síndrome de Down , Espasmos Infantis , Anticonvulsivantes/efeitos adversos , Criança , Síndrome de Down/induzido quimicamente , Síndrome de Down/complicações , Síndrome de Down/tratamento farmacológico , Humanos , Lactente , Estudos Retrospectivos , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/etiologia , Resultado do Tratamento , Vigabatrina/efeitos adversos
12.
Pediatr Emerg Care ; 37(12): e1724-e1725, 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30973498

RESUMO

ABSTRACT: Although coarctation of the aorta (CoAo) is a congenital anomaly, it can pose a diagnostic challenge in those presenting beyond neonatal period, as some patients can remain asymptomatic until complications of hypertension develop later in life. Careful physical examination can play an important role in timely diagnosis and prevention of complications.We present 2 cases of adolescents with undiagnosed CoAo who both presented with nonspecific headaches and hypertension. Both were initially misdiagnosed as essential hypertension until careful detailed physical examination later detected weak/absent femoral pulses and discrepancy in upper and lower limb blood pressures. These findings raised the clinical suspicion of CoAo, which was confirmed on further investigations.Our cases highlight the importance of considering CoAo in the differential diagnosis of hypertension in adolescents. These cases also stress the significance of detailed cardiac examination including 4-limb blood pressure and femoral pulses in a patient presenting to the emergency department with high blood pressure irrespective of the primary complaint.


Assuntos
Coartação Aórtica , Hipertensão , Adolescente , Aorta , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico , Pressão Sanguínea , Humanos , Hipertensão/diagnóstico , Hipertensão/etiologia , Exame Físico
13.
Stroke ; 51(9): 2844-2853, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32772683

RESUMO

BACKGROUND AND PURPOSE: Although VEGF165 (vascular endothelial growth factor-165) is able to enhance both angiogenesis and neurogenesis, it also increases vascular permeability through the blood-brain barrier. Heparan sulfate (HS) sugars play important roles in regulating VEGF bioactivity in the pericellular compartment. Here we asked whether an affinity-purified VEGF165-binding HS (HS7) could augment endogenous VEGF activity during stroke recovery without affecting blood-brain barrier function. METHODS: Both rat brain endothelial cell line 4 and primary rat neural progenitor cells were used to evaluate the potential angiogenic and neurogenic effects of HS7 in vitro. For in vivo experiments, male Sprague-Dawley rats were subjected to 100 minutes of transient focal cerebral ischemia, then treated after 4 days with either PBS or HS7. One week later, infarct volume, behavioral sequelae, immunohistochemical markers of angiogenesis and neural stem cell proliferation were assessed. RESULTS: HS7 significantly enhanced VEGF165-mediated angiogenesis in rat brain endothelial cell line 4 brain endothelial cells, and increased the proliferation and differentiation of primary neural progenitor cells, both via the VEGFR2 (vascular endothelial growth factor receptor 2) pathway. Intracerebroventricular injection of HS7 improved neurological outcome in ischemic rats without changing infarct volumes. Immunostaining of the compromised cerebrum demonstrated increases in collagen IV/Ki67 and nestin/Ki67 after HS7 exposure, consistent with its ability to promote angiogenesis and neurogenesis, without compromising blood-brain barrier integrity. CONCLUSIONS: A VEGF-activating glycosaminoglycan sugar, by itself, is able to enhance endogenous VEGF165 activity during the post-ischemic recovery phase of stroke.


Assuntos
Isquemia Encefálica/tratamento farmacológico , Heparitina Sulfato/uso terapêutico , Acidente Vascular Cerebral/tratamento farmacológico , Fator A de Crescimento do Endotélio Vascular/uso terapêutico , Animais , Barreira Hematoencefálica/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Heparitina Sulfato/administração & dosagem , Infarto da Artéria Cerebral Média/prevenção & controle , Injeções Intraventriculares , Ataque Isquêmico Transitório/tratamento farmacológico , Ataque Isquêmico Transitório/fisiopatologia , Masculino , Neovascularização Fisiológica/efeitos dos fármacos , Células-Tronco Neurais/efeitos dos fármacos , Ratos , Ratos Sprague-Dawley , Recuperação de Função Fisiológica , Fator A de Crescimento do Endotélio Vascular/administração & dosagem , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/metabolismo
14.
Microcirculation ; 27(7): e12649, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32663357

RESUMO

PURPOSE: Impaired red blood cell (RBC) deformability impedes tissue perfusion. This study aims to investigate RBC biomechanics in type 2 diabetes mellitus (DM) patients with different grades of diabetic retinopathy (DR) and to correlate RBC deformability with hematological and serum biochemical markers. METHODS: This cross-sectional study included 86 type 2 DM patients (31 with no DR, 31 with non-proliferative DR [NPDR] and 24 with proliferative DR [PDR]) and 32 control subjects. RBC deformability was measured by a microfluidic cross-slot channel (elongation index, EI). Venous blood samples were taken for assessment of hematological and serum biochemical markers. RESULTS: RBC deformability showed significant reduction in diabetic patients, being lowest in the PDR group, followed by NPDR and DM with no DR groups, and highest in control group (P = .018). RBC deformability was not affected by age or gender but showed significant associations with certain hematological and serum biochemical markers. In the regression analysis controlling for DM status, urea concentration and reticulocyte count were shown to be negatively associated with EI. CONCLUSION: Impaired RBC deformability measured by a microfluidic cross-slot channel in DM patients with different grades of DR underscores the contribution of RBC rheological properties to the pathogenesis and progression of DM related microangiopathy.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Retinopatia Diabética/sangue , Deformação Eritrocítica/fisiologia , Adulto , Idoso , Biomarcadores/sangue , Fenômenos Biomecânicos , Estudos de Casos e Controles , Estudos Transversais , Retinopatia Diabética/classificação , Retinopatia Diabética/etiologia , Contagem de Eritrócitos , Feminino , Humanos , Masculino , Técnicas Analíticas Microfluídicas , Pessoa de Meia-Idade , Modelos Biológicos , Reticulócitos , Ureia/sangue
15.
Can J Neurol Sci ; 46(1): 64-70, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30507368

RESUMO

OBJECTIVE: Benign epilepsy of childhood with central temporal spikes (BECTS) and absence epilepsy are common epilepsy syndromes in children with similar age of onset and favorable prognosis. However, the co-existence of the electrocardiogram (EEG) findings of rolandic spike and 3 Hz generalized spike-wave (GSW) discharges is extremely rare, with few cases reported in the literature. Our objective was to characterize the EEG findings of these syndromes in children in our center and review the electro-clinical features. METHODS: All EEGs at BC Children's Hospital are entered in a database, which include EEG findings and clinical data. Patients with both centro-temporal spikes and 3 Hz GSW discharges were identified from the database and clinical data were reviewed. RESULTS: Among the 43,061 patients in the database from 1992 to 2017, 1426 with isolated rolandic discharges and 528 patients with isolated 3 Hz GSW discharges were identified, and 20 (0.05%) patients had both findings: 3/20 had BECTS, and subsequently developed childhood absence epilepsy and 17/20 had no seizures characteristic for BECTS. At follow-up, 17 (85%) were seizure-free, 1 (5%) had rare, and 2 (10%) had frequent seizures. CONCLUSIONS: This is the largest reported group of patients to our knowledge with the co-existence of rolandic and 3 Hz GSW discharges on EEGs in one institution, not drug-induced. As the presence of both findings is extremely rare, distinct pathophysiological mechanisms are likely. The majority had excellent seizure control at follow-up, similar to what would be expected for each type of epilepsy alone.


OBJECTIF: L'épilepsie bénigne de l'enfance à pointes centro-temporales (ou épilepsie rolandique bénigne [ERB]) et l'absence épileptique sont des syndromes épileptiques communs chez des enfants dont le pronostic est favorable et dont l'apparition des premiers symptômes s'est produite à un âge similaire. Cependant, la coexistence, lors d'EEG, de résultats montrant des décharges rolandiques et des décharges à pointes-ondes continues de 3 Hz demeure extrêmement rare, peu de cas ayant été signalés dans la littérature scientifique. Notre objectif a donc consisté à décrire les résultats d'EEG liés à ces syndromes dans le cas d'enfants fréquentant notre établissement et à examiner leurs caractéristiques électro-cliniques. MÉTHODES: En plus de certaines données cliniques, tous les résultats d'EEG réalisés au BC Children's Hospital sont saisis dans une base de données. Tant les jeunes patients donnant à voir des décharges à pointes centro-temporales que ceux atteints de décharges à pointes-ondes continues de 3 Hz ont été identifiés à partir de cette base de données. Leurs données cliniques ont été ensuite passées en revue. RÉSULTATS: Sur un total de 43 061 jeunes patients présents dans la base de données de 1992 à 2017, nous en avons identifié 1426 avec des décharges rolandiques isolées et 528 avec des décharges isolées à pointes-ondes de 3 Hz. À noter que seulement vingt d'entre eux, soit 0,05 %, étaient concernés par ces deux types de décharge. À cet égard, 3 sur 20 étaient atteints d'ERB et ont développé ultérieurement un syndrome d'absence épileptique; chez les 17 autres, aucune convulsion caractéristique de l'ERB n'a été observée. Lors d'un suivi, 17 (85 %) d'entre eux n'avaient plus de crises convulsives tandis que 1 (5 %) avait exceptionnellement des crises et 2 (10 %), des crises fréquentes. CONCLUSIONS: À notre connaissance, il s'agit là du plus vaste groupe déclaré de patients donnant à voir, lors d'EGG menés au sein d'un seul établissement, une coexistence entre des décharges rolandiques et des décharges à pointes-ondes de 3 Hz, et ce, sans qu'elles n'aient été causées par des médicaments. Considérant que la présence de ces deux phénomènes est particulièrement inhabituelle, le rôle de divers mécanismes pathophysiologiques est fort probable. Fait à souligner, la majorité de ces patients ont pu montrer, au moment de leur suivi, une excellente maîtrise de leurs crises convulsives, maîtrise semblable à celle à laquelle on pourrait s'attendre pour chaque type d'épilepsie pris individuellement.


Assuntos
Ritmo Delta/fisiologia , Epilepsia Rolândica/fisiopatologia , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Bases de Dados Factuais , Ritmo Delta/efeitos dos fármacos , Eletroencefalografia , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Rolândica/tratamento farmacológico , Feminino , Seguimentos , Humanos , Masculino
16.
Pediatr Emerg Care ; 35(1): 72-74, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30608331

RESUMO

Diagnostic dilemmas are ubiquitous in pediatric emergency medicine because of the varied and often insidious presentations of many pediatric conditions. Point-of-care ultrasound (POCUS) in emergency departments is being used for some of these diagnostic challenges and can often provide rapid and valuable information to supplement a physician's clinical assessment. Intussusception is a pediatric condition that may be challenging to recognize because of its subtle and varied presenting symptoms. An unrecognized or delayed diagnosis of intussusception can be catastrophic, with complications including bowel obstruction, bowel perforation, and death. Here we present two challenging cases of intussusception, one due to its atypical age of presentation and the other due to its unique symptoms. These cases demonstrate the benefits of point-of-care ultrasound for diagnostically challenging cases in the emergency department.


Assuntos
Intussuscepção/diagnóstico por imagem , Sistemas Automatizados de Assistência Junto ao Leito , Ultrassonografia/métodos , Diagnóstico Diferencial , Serviço Hospitalar de Emergência , Feminino , Humanos , Lactente , Masculino
17.
Paediatr Child Health ; 24(1): 30-37, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30792598

RESUMO

In 1998, the Centers for Disease Control and Prevention Adverse Childhood Experiences study established the profound effects of early childhood adversity on life course health. The burden of cumulative adversities can affect gene expression, immune system development and condition stress response. A scientific framework provides explanation for numerous childhood and adult health problems and high-risk behaviours that originate in early life. In our review, we discuss adverse childhood experiences, toxic stress, the neurobiological basis and multigenerational and epigenetic transmission of trauma and recognized health implications. Further, we outline building resilience, screening in the clinical setting, primary care interventions, applying trauma-informed care and future directions. We foresee that enhancing knowledge of the far-reaching effects of adverse childhood events will facilitate mitigation of toxic stress, promote child and family resilience and optimize life course health trajectories.

18.
J Pediatr ; 192: 80-85.e1, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29246362

RESUMO

OBJECTIVE: To evaluate the association between breastfeeding duration and early childhood cardiometabolic risk. STUDY DESIGN: A cross-sectional study of 1539 healthy children, 3-6 years of age, recruited through The Applied Research Group for Kids! practice-based research network between October 2009 and August 2015. Adjusted multivariable linear regression was used to examine the association between breastfeeding duration and cardiometabolic risk z score and individual cardiometabolic risk factors of waist circumference, systolic blood pressure, glucose, high-density lipoprotein cholesterol, and triglycerides. RESULTS: The mean breastfeeding duration was 12.5 months (SD = 8.4). Breastfeeding duration was associated with lower cardiometabolic risk z score (beta = -0.03; 95% CI -0.05, -0.01). In analysis of cardiometabolic risk factors, each additional 3 months of breastfeeding was associated with a 0.13 cm (95% CI -0.20, -0.05) lower waist circumference and 0.16 mm Hg (95% CI -0.30, -0.02) lower systolic blood pressure. Compared with children who breastfed for 6-12 months, those who breastfed for 12-24 months had a lower systolic blood pressure of 1.07 mm Hg (95% CI -2.04, -0.10). There was no association between breastfeeding duration and cardiometabolic risk for those who breastfed beyond 24 months. CONCLUSIONS: Breastfeeding duration is associated with lower cardiometabolic risk, although the magnitude of association is small. Causation cannot be inferred. Breastfeeding beyond 24 months may not have an added benefit for cardiometabolic health.


Assuntos
Aleitamento Materno/estatística & dados numéricos , Doenças Cardiovasculares/etiologia , Doenças Metabólicas/etiologia , Fatores Etários , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Masculino , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/prevenção & controle , Fatores de Proteção , Fatores de Risco , Fatores de Tempo
19.
Curr Rheumatol Rep ; 20(10): 64, 2018 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-30173305

RESUMO

PURPOSE OF REVIEW: Conventional synthetic disease modifying anti-rheumatic drugs (csDMARDs) have been used in the treatment of inflammatory arthritis (IA) for many years. More recently, biologic (bDMARDs) and targeted synthetic (tsDMARDs) DMARDs have further improved treatment. Due to increased patient longevity and effective oncology treatment, rheumatologists often encounter patients with IA and previous malignancy. The immunosuppressive effect of DMARDs causes concern regarding impaired tumour surveillance with a potential increased risk of malignancy. We reviewed the literature regarding the risk of malignancy in patients on cs-/b-/tsDMARDS and sought to provide practical advice regarding use of these drugs in patients with previous malignancy. RECENT FINDINGS: Data from randomised controlled trials is limited as patients with pre-existing malignancy are often excluded. Reassuringly, an increasing range of "real world" data from various national b/tsDMARD registries has not provided a convincing signal that these drugs increase tumour recurrence. Nevertheless, awareness of, and adherence to, national screening guidelines for malignancy is important. Given the improvement in quality of life achieved with these novel and well-tolerated therapeutic agents, the benefit/risk profile remains overwhelmingly favourable in most patients.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Neoplasias/complicações , Padrões de Prática Médica , Artrite Reumatoide/complicações , Humanos , Qualidade de Vida
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