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1.
PLoS One ; 19(6): e0304711, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38870226

RESUMO

BACKGROUND: Asthma is the leading source of unscheduled hospitalisation in Australian children, with a high burden placed upon children, their parents/families, and the healthcare system. In Australia, there are widening disparities in paediatric asthma care including inequitable access to comprehensive ongoing and planned asthma care for children. METHODS: The Asthma Care from Home Project is a comprehensive virtually enabled asthma model of care that aims to a. supports families, communities and healthcare providers, b. flexible and locally acceptable, and c. allow for adoption of innovations such as digital technologies so that asthma care can be provided "from home", reduce potentially preventable asthma hospitalisation, and ensure satisfaction at a patient, family, and healthcare provider level. The model of care includes standardisation of discharge care through provision of an asthma discharge resource pack containing individual asthma action plan, follow-up letters for the child's general practitioner (GP) and school/child care, and access to online asthma educational sessions and resource; post-discharge care coordination through text message reminders for families for regular GP review, email correspondence with their child's GP and school/childcare; and virtual home visits to discuss home environmental triggers, provide personalised asthma education and respond to parental concerns relating to their child's asthma. This study is comprised of three components: 1) a quasi-experimental pre/post impact evaluation assessing the impact of the model on healthcare utilisation and asthma control measures; 2) a mixed-methods implementation evaluation to understand how and why our intervention was effective or ineffective in producing systems change; 3) an economic evaluation to assess the cost-effectiveness of the proposed model of care from a family and health services perspective. DISCUSSION: This study aims to improve access to asthma care for children in rural and remote areas. Implementation evaluation and economic evaluation will provide insights into the sustainability and scalability of the asthma model of care.


Assuntos
Asma , População Rural , Asma/terapia , Humanos , Criança , New South Wales , Pré-Escolar , Feminino , Masculino , Telemedicina , Adolescente
2.
World J Urol ; 42(1): 347, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38789638

RESUMO

OBJECTIVE: To analyze postoperative ileus rates and postoperative complications between the different pneumoperitoneum settings. The secondary objective was to evaluate narcotic use and intraoperative blood loss between the different pneumoperitoneum settings. METHODS: A prospective, randomized, double blinded study was conducted at pneumoperitoneum pressures of either 12 mmHg or 15 mmHg for patients undergoing robotic assisted radical prostatectomy with bilateral pelvic lymph node dissection by a single high volume surgeon. RESULTS: The risk of ileus in the 12 mmHg group was 1.9% (2/105) compared to 3.2% (3/93) in the 15 mmHg group (OR 0.58, 95%CI 0.1-3.6). There was no difference in the risk of any complication with a complication rate of 4.8% (5/105) in the 12 mmHg arm compared to 4.3% (4/93) in the 15 mmHg arm (OR 1.1, 95% CI 0.3 - 4.3). CONCLUSION: Pneumoperitoneum pressure setting of 12 mmHg has no significant difference to 15 mmHg in the rate of postoperative complications, narcotic use, and intraoperative bleeding. Additional research is warranted to understand the optimal.


Assuntos
Pneumoperitônio Artificial , Complicações Pós-Operatórias , Pressão , Prostatectomia , Procedimentos Cirúrgicos Robóticos , Humanos , Prostatectomia/métodos , Prostatectomia/efeitos adversos , Masculino , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Procedimentos Cirúrgicos Robóticos/métodos , Método Duplo-Cego , Pneumoperitônio Artificial/métodos , Pneumoperitônio Artificial/efeitos adversos , Estudos Prospectivos , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Idoso , Íleus/etiologia , Íleus/epidemiologia , Excisão de Linfonodo/métodos , Excisão de Linfonodo/efeitos adversos , Neoplasias da Próstata/cirurgia , Perda Sanguínea Cirúrgica
3.
Heart Lung Circ ; 33(2): 153-196, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38453293

RESUMO

These first Australian National Standards of Care for Childhood-onset Heart Disease (CoHD Standards) have been developed to inform the healthcare requirements for CoHD services and enable all Australian patients, families and carers impacted by CoHD (paediatric CoHD and adult congenital heart disease [ACHD]) to live their best and healthiest lives. The CoHD Standards are designed to provide the clarity and certainty required for healthcare services to deliver excellent, comprehensive, inclusive, and equitable CoHD care across Australia for patients, families and carers, and offer an iterative roadmap to the future of these services. The CoHD Standards provide a framework for excellent CoHD care, encompassing key requirements and expectations for whole-of-life, holistic and connected healthcare service delivery. The CoHD Standards should be implemented in health services in conjunction with the National Safety and Quality Health Service Standards developed by the Australian Commission on Safety and Quality in Health Care. All healthcare services should comply with the CoHD Standards, as well as working to their organisation's or jurisdiction's agreed clinical governance framework, to guide the implementation of structures and processes that support safe care.


Assuntos
Cardiopatias Congênitas , Humanos , Criança , Adulto , Austrália/epidemiologia , Cardiopatias Congênitas/terapia , Padrão de Cuidado , Atenção à Saúde
4.
J Exp Med ; 221(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38417019

RESUMO

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3-a negative regulator of cytokine and growth factor receptor signaling-harbors rare coding variants in over 5% of SLE patients. Here, we show that unlike the variant found exclusively in healthy controls, SH2B3 rare variants found in lupus patients are predominantly hypomorphic alleles, failing to suppress IFNGR signaling via JAK2-STAT1. The generation of two mouse lines carrying patients' variants revealed that SH2B3 is important in limiting the number of immature and transitional B cells. Furthermore, hypomorphic SH2B3 was shown to impair the negative selection of immature/transitional self-reactive B cells and accelerate autoimmunity in sensitized mice, at least in part due to increased IL-4R signaling and BAFF-R expression. This work identifies a previously unappreciated role for SH2B3 in human B cell tolerance and lupus risk.


Assuntos
Autoimunidade , Lúpus Eritematoso Sistêmico , Animais , Humanos , Camundongos , Autoimunidade/genética , Fator Ativador de Células B/metabolismo , Linfócitos B , Lúpus Eritematoso Sistêmico/genética , Células Precursoras de Linfócitos B
5.
J Paediatr Child Health ; 57(4): 477-483, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33566436

RESUMO

Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being 'mainstreamed' into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.


Assuntos
Deficiência Intelectual , Pediatria , Idoso , Austrália , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Testes Genéticos , Genômica , Humanos , Deficiência Intelectual/genética , Programas Nacionais de Saúde
7.
Pediatr Res ; 84(2): 279-289, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29795211

RESUMO

BACKGROUND: Hypertension occurs in up to 3% of neonates admitted to the Neonatal Intensive Care Unit (NICU), and is a potentially under-recognized condition. The aim of this study was to examine the incidence of documented and undiagnosed hypertension from the 24-center Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) database, and to assess risk factors for hypertension according to gestational age. METHODS: Diagnosed hypertension was documented if an infant had a discharge diagnosis of hypertension and/or discharged on antihypertensive medications. Undiagnosed hypertension was defined when infants did not have a diagnosis of hypertension, but >50% of the lowest mean, diastolic and systolic blood pressure recordings were >95th percentile for gestational age. RESULTS: Of the 2162 neonates enrolled in the study, hypertension was documented in 1.8%. An additional 3.7% were defined as having undiagnosed hypertension. There was a significant correlation with neonatal hypertension and acute kidney injury (AKI). Additional risk factors for neonatal hypertension were hyperbilirubinaemia, Caucasian race, outborn, vaginal delivery, and congenital heart disease. Protective factors were small for gestational age, multiple gestations, and steroids for fetal maturation. CONCLUSIONS: Neonatal hypertension may be an under-recognized condition. AKI and other risk factors predispose infants to hypertension.


Assuntos
Injúria Renal Aguda/epidemiologia , Hipertensão/epidemiologia , Doenças do Recém-Nascido/epidemiologia , Unidades de Terapia Intensiva Neonatal , Injúria Renal Aguda/diagnóstico , Pressão Sanguínea , Bases de Dados Factuais , Feminino , Idade Gestacional , Hospitalização , Humanos , Incidência , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/epidemiologia , Cooperação Internacional , Masculino , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
8.
Kidney Int ; 92(6): 1493-1506, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28844315

RESUMO

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes.


Assuntos
Exoma/genética , Testes Genéticos/métodos , Nefropatias/diagnóstico , Adolescente , Adulto , Idoso , Austrália , Criança , Pré-Escolar , Estudos de Viabilidade , Feminino , Aconselhamento Genético/métodos , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Lactente , Recém-Nascido , Nefropatias/genética , Nefropatias/terapia , Masculino , Pessoa de Meia-Idade , Fenótipo , Medicina de Precisão/métodos , Análise de Sequência de DNA , Adulto Jovem
9.
Transpl Immunol ; 30(4): 168-77, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24746800

RESUMO

Adoptive cell therapies involving cell manipulation to achieve tolerance are increasingly being studied in animal models and in human trials. We have demonstrated that the specific removal of allo-stimulated dividing cells (or "pruning") promotes long-term allograft survival across a major MHC mismatch in transplant models including skin, heart and islet transplants. In this study, we examine the role of transforming growth factor beta (TGFß), an important regulatory cytokine, on allograft survival in our allodepletion or "pruning" skin transplant model. Increased proliferation of CD4(+) T cells was observed following allo-stimulation of BALB/c spleen cells (labeled with CFSE) in the presence of the regulatory cytokines TGFß and (interleukin-2) IL-2 in a mixed lymphocyte culture (MLC). Expression of the regulatory gene forkhead box-3 (FoxP3) was increased in both the allo-stimulated non-dividing (ND) (CFSE(high)) and dividing (D) (CFSE(low)) CD4(+) T cell populations, with the highest expression found in the D CD4(+) T cell population. Mice reconstituted with allo-stimulated ND CD4(+) T cells following TGFß/IL-2 stimulation showed prolonged allograft survival, similar to previous data. Significantly, TGFß/IL-2 stimulation prevented acute rejection of allografts across a major MHC mismatch in the presence of highly activated allo-stimulated D CD4(+) T cells. Blockade of TGFß promoted rejection of allografts even following depletion of allo-stimulated D CD4(+) T cells. These studies support a crucial role for TGFß in the survival of allografts and shows that regulatory cytokines TGFß/IL2 can delay the rejection of allografts, even in the presence of highly activated alloreactive T cells.


Assuntos
Sobrevivência de Enxerto/imunologia , Interleucina-2/farmacologia , Transplante de Pele , Fator de Crescimento Transformador beta/farmacologia , Tolerância ao Transplante/imunologia , Animais , Linfócitos T CD4-Positivos/citologia , Proliferação de Células , Células Cultivadas , Feminino , Fatores de Transcrição Forkhead/biossíntese , Rejeição de Enxerto/prevenção & controle , Ativação Linfocitária/imunologia , Teste de Cultura Mista de Linfócitos , Depleção Linfocítica , Camundongos , Camundongos Endogâmicos BALB C , Camundongos Endogâmicos C57BL , Camundongos SCID , Modelos Animais , Linfócitos T Reguladores/imunologia , Transplante Homólogo
10.
J Pediatr ; 163(1): 224-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23403252

RESUMO

OBJECTIVES: To investigate the frequency of constitutional Wilms tumor 1 gene (WT1) abnormalities in children with bilateral Wilms tumor (WT) and the age of tumor onset in patients with a mutation. STUDY DESIGN: Eight patients with bilateral WT were studied. High-resolution melting and direct sequencing were used to screen for the WT1 gene. Western blotting was performed to determine whether the identified mutations were associated with expressed truncated WT1 protein. RESULTS: The median age of tumor onset in patients with a mutation in the WT1 was lower (10 months) than in those without a mutation (39 months). Three novel heterozygous nonsense mutations were identified in exon 8 in peripheral blood from 3 individuals, whereas all 3 tumor tissues lacked the wild-type allele. All mutations led to a premature stop codon with truncation of the WT1 protein. In 1 patient, a truncated form of WT1 protein was identified, suggesting that development of the WT may have resulted from expression of an abnormal protein. Four distinct silent single-nucleotide polymorphisms (SNPs) were detected. All 3 patients with a pathogenic WT1 mutation had 2 synonymous SNPs, whereas only 1 of the remaining 5 patients had a single synonymous SNP (P < .05). CONCLUSIONS: Bilateral WT are associated with early presentation in pediatric patients and a high frequency of WT1 nonsense mutations in exon 8. Silent SNPs may also be involved in the development of WT.


Assuntos
Genes do Tumor de Wilms , Neoplasias Renais/genética , Mutação , Proteínas WT1/genética , Tumor de Wilms/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
11.
Pediatr Nephrol ; 28(2): 251-6, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23052649

RESUMO

BACKGROUND: Genetic etiology comprises a significant proportion of renal disease in childhood. Completion of the Human Genome Project and increased genetic testing has assisted with the increased recognition of a genetic basis to many renal disorders. Australia and New Zealand have a relatively stable but diverse population, with eight major pediatric nephrology referral centers, which allow ascertainment of disease frequency. METHODS: To determine prevalence, pediatric nephrologists at the eight centers in Australia and New Zealand were surveyed on their estimated number of patients with renal disease of genetic etiology over a 10-year period. Disease prevalence was calculated using combined national population data. RESULTS: The overall prevalence of genetic kidney disease in children in Australia and New Zealand is 70.6 children per million age-representative population. Congenital anomalies of the kidney and urinary tract (CAKUT) and steroid-resistant nephrotic syndrome (SRNS) are the most frequent, with a prevalence of 16.3 and 10.7, respectively, per million children. CONCLUSION: We find a similar prevalence of genetic renal disorders in Australia and New Zealand to those reported in other countries. This is likely to be due to inclusion of children with all forms of renal disease rather than being limited to those with renal impairment.


Assuntos
Doenças Genéticas Inatas/epidemiologia , Nefropatias/epidemiologia , Nefropatias/genética , Austrália/epidemiologia , Criança , Pré-Escolar , Aconselhamento Genético/estatística & dados numéricos , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Nefropatias/diagnóstico , Síndrome Nefrótica/epidemiologia , Nova Zelândia/epidemiologia , Prevalência , Anormalidades Urogenitais , Refluxo Vesicoureteral/epidemiologia
12.
J Neurol ; 257(3): 433-5, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19888623

RESUMO

Linezolid is increasingly being utilized for the treatment of gram-positive pathogens. While neurological complications with linezolid are rare, long-term exposure can be associated with neurotoxic effects. Patients with pre-existing neurologic sequelae or risk factors, such as alcohol abuse, diabetes, or concomitant administration of chemotherapeutic agents and/or antiretroviral therapy, may be more susceptible to the development of linezolid-induced neurotoxicity. We describe a 41-year-old male who developed early onset encephalopathy after a day and a half of linezolid therapy. Our patient had at least one significant risk factor (alcoholism), making linezolid-induced encephalopathy probable based upon the Naranjo probability scale. Clinicians should be aware of the potential for early onset linezolid-induced neurotoxicity, particularly in patients with concomitant risk factors.


Assuntos
Acetamidas/efeitos adversos , Transtornos do Sistema Nervoso Induzidos por Álcool/complicações , Alcoolismo/complicações , Encéfalo/efeitos dos fármacos , Síndromes Neurotóxicas/fisiopatologia , Oxazolidinonas/efeitos adversos , Pneumonia Estafilocócica/tratamento farmacológico , Adulto , Anti-Infecciosos/efeitos adversos , Encéfalo/patologia , Encéfalo/fisiopatologia , Causalidade , Insuficiência Cardíaca/induzido quimicamente , Insuficiência Cardíaca/complicações , Humanos , Linezolida , Cirrose Hepática/induzido quimicamente , Cirrose Hepática/complicações , Masculino , Síndromes Neurotóxicas/patologia , Síndromes Neurotóxicas/prevenção & controle , Seleção de Pacientes , Fatores de Risco
13.
Pediatr Nephrol ; 24(8): 1465-71, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18584214

RESUMO

Chronic allograft nephropathy (CAN) is the leading cause of renal allograft loss in paediatric renal transplant recipients. CAN is the result of immunological and nonimmunological injury, including acute rejection episodes, hypoperfusion, ischaemia reperfusion, calcineurin toxicity, infection and recurrent disease. The development of CAN is often insidious and may be preceded by subclinical rejection in a well-functioning allograft. Classification of CAN is histological using the Banff classification of renal allograft pathology with classic findings of interstitial fibrosis, tubular atrophy, glomerulosclerosis, fibrointimal hyperplasia and arteriolar hyalinosis. Although improvement in immunosuppression has led to greater 1-year graft survival rates, chronic graft loss remains relatively unchanged and opportunistic infectious complications remain a problem. Protocol biopsy monitoring is not current practice in paediatric transplantation for CAN monitoring but may have a place if new treatment options become available. Newer immunosuppression regimens, closer monitoring of the renal allograft and management of subclinical rejection may lead to reduced immune injury leading to CAN in the paediatric population but must be weighed against the risk of increased immunosuppression and calcineurin inhibitor nephrotoxicity.


Assuntos
Nefropatias/etiologia , Transplante de Rim/efeitos adversos , Criança , Doença Crônica , Humanos
15.
J Am Soc Nephrol ; 19(5): 847-62, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18322164

RESUMO

Vesicoureteral reflux (VUR), the retrograde flow of urine from the bladder toward the kidney, is common in young children. About 30% of children with urinary tract infections will be diagnosed with VUR after a voiding cystourethrogram. For most, VUR will resolve spontaneously; 20% to 30% will have further infections, but few will experience long-term renal sequelae. Developmentally, VUR arises from disruption of complex signaling pathways and cellular differentiation. These mechanisms are probably genetically programmed but may be influenced by environmental exposures. Phenotypic expression of VUR is variable, ranging from asymptomatic forms to severe renal parenchymal disease and end-stage disease. VUR is often familial but is genetically heterogeneous with variability in mode of inheritance and in which gene, or the number of genes, that are involved. Numerous genetic studies that explore associations with VUR are available. The relative utility of these for understanding the genetics of VUR is often limited because of small sample size, poor methodology, and a diverse spectrum of patients. Much, if not all, of the renal parenchymal damage associated with end-stage disease is likely to be congenital, which limits the opportunity for intervention to familial cases where risk prediction may be available. Management of children with VUR remains controversial because there is no strong supportive evidence that prophylactic antibiotics or surgical intervention improve outcomes. Furthermore, well-designed genetic epidemiological studies focusing on the severe end of the VUR phenotype may help define the causal pathway and identify modifiable or disease predictive factors.


Assuntos
Infecções Urinárias/epidemiologia , Refluxo Vesicoureteral , Humanos , Lactente , Valor Preditivo dos Testes , Prognóstico , Ensaios Clínicos Controlados Aleatórios como Assunto , Fatores de Risco , Infecções Urinárias/terapia , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/epidemiologia , Refluxo Vesicoureteral/terapia
16.
Pediatr Nephrol ; 21(12): 1893-7, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16955281

RESUMO

The nephrotoxic potential of anti-inflammatory drugs alone and in compound preparations has been known for over fifty years. Nephrotoxicity associated with selective cyclooxygenase 2 (COX-2) inhibitor use is reported in adult patients but not in children. We present here the first report of reversible acute renal failure associated with the COX-2 inhibitor rofecoxib (Vioxx) in three children. Patient 1, an 18 month old girl with neonatal Bartter syndrome, developed acute renal failure with a peak creatinine of 1.9 mg/dl (164 micromol/l) and severe hyperkalemic metabolic acidosis. Patient 2, a 14 year old boy with a history of rheumatic fever, developed acute renal failure with a peak creatinine of 2.7 mg/dl (240 micromol/l). While patient 3, a healthy 14 year old girl, developed acute renal failure and tubulointerstitial nephritis confirmed on renal biopsy with a peak creatinine of 3.3 mg/dl (287 micromol/L). All children had been taking non-selective non-steroidal anti-inflammatory drugs (NSAID's) immediately prior to rofecoxib use. Renal function returned to normal within one week in all three patients and has remained normal at follow-up. This paper highlights the nephrotoxic risk of COX-2 inhibitor use in the pediatric population.


Assuntos
Injúria Renal Aguda/induzido quimicamente , Inibidores de Ciclo-Oxigenase 2/toxicidade , Rim/efeitos dos fármacos , Lactonas/toxicidade , Sulfonas/toxicidade , Injúria Renal Aguda/patologia , Adolescente , Feminino , Humanos , Lactente , Rim/patologia , Masculino
17.
Curr Neurol Neurosci Rep ; 5(6): 488-93, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16263062

RESUMO

Cardiac and pulmonary complications following acute neurologic injury are common and may be a cause of morbidity and mortality in this population. Examples include hypertension, arrhythmias, ventricular dysfunction, pulmonary edema, shock, and sudden death. Primary neurologic events are represented by stroke, subarachnoid hemorrhage, traumatic brain injury, epilepsy, and encephalitis and have been frequently reported. Given the high frequency of these conditions, it is important for physicians to become familiar with their pathophysiology, allowing for more prompt and appropriate treatment.


Assuntos
Lesões Encefálicas/complicações , Cardiopatias/etiologia , Edema Pulmonar/etiologia , Lesões Encefálicas/epidemiologia , Morte Súbita , Progressão da Doença , Cardiopatias/epidemiologia , Cardiopatias/mortalidade , Humanos , Edema Pulmonar/epidemiologia , Edema Pulmonar/mortalidade
18.
J Am Soc Nephrol ; 16(9): 2754-61, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16049068

RESUMO

The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients include renal hypoplasia, renal insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion in exon 2 of the PAX2 gene leading to a truncating mutation and variable phenotype across three generations is reported. The first presentation of multicystic dysplastic kidney in this syndrome is reported. The possibility that abnormal PAX2 protein in this case may cause a dominant negative effect also is discussed. The finding of multicystic dysplastic kidney in renal coloboma syndrome could suggest that PAX2 may play a role in early ureteric obstruction and subsequent renal maldevelopment.


Assuntos
Coloboma/genética , Rim/anormalidades , Fator de Transcrição PAX2/genética , Rim Policístico Autossômico Dominante/genética , Adulto , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , Coloboma/complicações , Coloboma/patologia , DNA/genética , Éxons , Feminino , Heterozigoto , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Fator de Transcrição PAX2/deficiência , Linhagem , Fenótipo , Rim Policístico Autossômico Dominante/complicações , Rim Policístico Autossômico Dominante/patologia , Deleção de Sequência , Síndrome
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