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1.
Rev. colomb. anestesiol ; 49(4): e502, Oct.-Dec. 2021. graf
Artigo em Inglês | LILACS, COLNAL | ID: biblio-1341247

RESUMO

Abstract Airway-related pathology poses a significant challenge to the pediatric anesthesiologist. This case report involves a 28-day-old neonate diagnosed with congenital tracheal stenosis who underwent a slide tracheoplasty intervention with extracorporeal circulation. The anesthetic management is described, together with our experience in the face of a challenging situation, including adverse events during surgery.


Resumen La patología relacionada con la vía aérea es uno de los grandes retos a los que se enfrenta un anestesiólogo pediátrico. En este reporte de caso se presenta una cirugía realizada en nuestro hospital. Un neonato de 28 días de vida, diagnosticado con estenosis traqueal congénita fue intervenido con traqueoplastia por deslizamiento, bajo soporte con circulación extracorpórea. Se documenta el manejo anestésico, y la experiencia de enfrentar un reto complejo, incluyendo los eventos adversos que ocurrieron durante la cirugía.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Remodelação das Vias Aéreas , Anormalidades Congênitas , Cirurgia Torácica , Traqueia , Recém-Nascido , Circulação Extracorpórea
2.
Artigo em Inglês | MEDLINE | ID: mdl-34769683

RESUMO

Neonatal "surgical" malformations are associated with higher costs than major "non-surgical" birth defects. We aimed to analyze the financial burden on the Austrian health system of five congenital malformations requiring timely postnatal surgery. The database of the Austrian National Public Health Institute for the period from 2002 to 2014 was reviewed. Diagnosis-related group (DRG) points assigned to hospital admissions containing five congenital malformations coded as principal diagnosis (esophageal atresia, duodenal atresia, congenital diaphragmatic hernia, gastroschisis, and omphalocele) were collected and compared to all hospitalizations for other reasons. Out of 3,518,625 total hospitalizations, there were 1664 admissions of patients with the selected malformations. The annual mean number was 128 (SD 17, range 110-175). The mean cost of the congenital malformations per hospital admission expressed in DRG points was 26,588 (range 0-465,772, SD 40,702) and was significantly higher compared to the other hospitalizations (n = 3,516,961; mean DRG 2194, range 0-834,997; SD 6161; p < 0.05). Surgical conditions requiring timely postnatal surgery place a significant financial burden on the healthcare system. The creation of a dedicated national register could allow for better planning of resource allocation, for improving the outcome of affected children, and for optimizing costs.


Assuntos
Anormalidades Congênitas , Atresia Esofágica , Áustria , Criança , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/cirurgia , Bases de Dados Factuais , Hospitalização , Humanos , Recém-Nascido
4.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde | ID: lis-48436

RESUMO

Na semana em que profissionais de saúde de todo o mundo realizam ações em alusão ao Dia da Prevenção da Síndrome Alcóolica Fetal (SAF), celebrado na última quinta-feira (9), o Ministério da Saúde instituiu grupo de trabalho para elaboração do Plano de Vigilância Integrada de Fatores de Risco para Anomalias Congênitas no Brasil.


Assuntos
59612 , Estratégias de Saúde , Gravidez , Anormalidades Congênitas
5.
PLoS One ; 16(9): e0257584, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34543335

RESUMO

BACKGROUND: Nausea and vomiting of pregnancy affects up to 80% of pregnant women, it typically occurs during the first trimester which is the most sensitive time for environmental exposures given organogenesis. Metoclopramide is an antiemetic drug used widely during NVP, but the findings of studies evaluating its safety of use in pregnancy is inconsistent. Therefore, we conducted a systematic review and meta-analysis to assess whether metoclopramide use during first trimester of pregnancy is associated with the risk of major congenital malformations. METHODS: The systematic search using database included Pubmed, Embase, Web of science, and Cochrane library. Studies written in English, comprising with an exposed group and a control group, reporting major congenital malformation as an outcome were included. RESULTS: Six studies assessing a total number of 33374 metoclopramide-exposed and 373498 controls infants were included in this meta-analysis. No significant increase in the rate of major congenital malformation was detected following metoclopramide use during first trimester (OR, 1.14; 95% CI, 0.93-1.38). CONCLUSIONS: Metoclopramide use during first trimester of pregnancy was not associated with the risk of major congenital malformations.


Assuntos
Antieméticos/efeitos adversos , Anormalidades Congênitas/etiologia , Metoclopramida/efeitos adversos , Antieméticos/uso terapêutico , Feminino , Humanos , Metoclopramida/uso terapêutico , Náusea/tratamento farmacológico , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez , Vômito/tratamento farmacológico
6.
PLoS One ; 16(9): e0257536, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34591867

RESUMO

BACKGROUND: Global death rate in children has been declining during the last decades worldwide, especially in high income countries. This has been attributed to several factors, including improved prenatal and perinatal care, immunisations, infection management as well as progress in diagnosis and treatment of most diseases. However, there is certainly room for further progress. The aim of the current study was to describe the changes in death rates and causes of death in Iceland, a high-income country during almost half a century. METHODS: The Causes of Death Register at The Directorate of Health was used to identify all children under the age of 18 years in Iceland that died during the study period from January 1st, 1971 until December 31st, 2018. Using Icelandic national identification numbers, individuals could be identified for further information. Hospital records, laboratory results and post-mortem diagnosis could be accessed if cause of death was unclear. FINDINGS: Results showed a distinct decrease in death rates in children during the study period that was continuous over the whole period. This was established for almost all causes of death and in all age groups. This reduction was primarily attributed to a decrease in fatal accidents and fewer deaths due to infections, perinatal or congenital disease as well as malignancies, the reduction in death rates from other causes was less distinct. Childhood suicide rates remained constant. INTERPRETATION: Our results are encouraging for further prevention of childhood deaths. In addition, our results emphasise the need to improve measures to detect and treat mental and behavioural disorders leading to childhood suicide.


Assuntos
Causas de Morte , Mortalidade da Criança/tendências , Adolescente , Criança , Pré-Escolar , Anormalidades Congênitas/mortalidade , Anormalidades Congênitas/patologia , Feminino , Humanos , Islândia , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Neoplasias/mortalidade , Neoplasias/patologia , Sistema de Registros , Infecções Respiratórias/mortalidade , Infecções Respiratórias/patologia
8.
Acta Obstet Gynecol Scand ; 100(11): 2029-2035, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34472083

RESUMO

INTRODUCTION: Our objective was to evaluate the perinatal outcome of selective termination of dichorionic twin pregnancies with discordant anomalies, according to gestational age at time of procedure. MATERIAL AND METHODS: Retrospective review of 147 dichorionic twin pregnancies referred to our Fetal Medicine Unit between 2003 and 2018 for selective termination. Gestational age at delivery, fetal loss, and overall and 28-day post-delivery survival rates, were evaluated according to gestational age at time of procedure. Selective termination procedure was defined as early, intermediate, and late when performed before 18 weeks, between 18 and 23 weeks, and after 23 weeks, respectively. Kruskal-Wallis and chi-squared test were used to compare groups. RESULTS: Overall survival at 28 days post-delivery, pregnancy loss, and preterm delivery before 32 weeks of gestation rates were 93.4%, 6.9%, and 15.5%, respectively. When stratified by gestational age at procedure, intermediate selective termination was associated with a lower survival rate than early and late procedures (86% vs. 96.9% and 100%, respectively; p = 0.035), and a nonsignificant trend for higher pregnancy loss (12% vs. 3.1%). Preterm delivery before 32 weeks of gestation occurred in 27% of late procedures, which was significantly higher than in early (9.5%) and intermediate (18.2%) procedures. CONCLUSIONS: Selective termination in dichorionic twin pregnancies with discordant fetal anomaly is associated with low pregnancy loss and preterm delivery rate, primarily when performed before 18 weeks. When legally possible, late procedures can be a good alternative, particularly in those cases diagnosed beyond the 18th week of gestation.


Assuntos
Anormalidades Congênitas , Resultado da Gravidez , Redução de Gravidez Multifetal , Aborto Espontâneo , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Gravidez de Gêmeos , Nascimento Prematuro , Estudos Retrospectivos , Gêmeos Dizigóticos
13.
Arch Pediatr ; 28(7): 533-536, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34507863

RESUMO

Congenital abnormalities of the genitourinary tract are the most common sonographically identified malformations. Although prenatal diagnosis seldom modifies perinatal management, it can cause significant anxiety in parents. We aimed to assess how parents perceived the prenatal counseling they had received in our institution. Using a questionnaire, we evaluated by phone the mothers of 78 children diagnosed prenatally with urological tract anomalies between January 2018 and May 2019. Overall, mothers were satisfied and reassured by the prenatal counseling they received, although 19% of the mothers found the time from diagnosis to specialist consultation to be too long. Forty percent of the responders stated that the most important information they needed to hear during the specialist consultation was management and not diagnosis. Specialist counseling should focus on explaining postnatal management, should be offered as soon as possible, and should include practical aspects, especially concerning outpatient care.


Assuntos
Anormalidades Congênitas/diagnóstico , Mães/psicologia , Percepção , Diagnóstico Pré-Natal/normas , Sistema Urinário/anormalidades , Adulto , Anormalidades Congênitas/psicologia , Aconselhamento/normas , Aconselhamento/estatística & dados numéricos , Feminino , Humanos , Mães/estatística & dados numéricos , Gravidez , Cuidado Pré-Natal/psicologia , Cuidado Pré-Natal/normas , Cuidado Pré-Natal/estatística & dados numéricos , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Sistema Urinário/fisiopatologia
14.
East Mediterr Health J ; 27(8): 790-797, 2021 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-34486715

RESUMO

Background: The worldwide incidence of congenital anomalies (CAs) is estimated at 3-7%, but actual numbers vary widely among countries. Birth defects are the most common causes of infantile mortality, accounting for ~25% of all neonatal deaths. Aims: To determine the prevalence of congenital anomalies in neonates in Fayoum Governorate; to classify malformations; and to clarify the association between congenital anomalies and possible risk factors. Methods: A cross-sectional study was conducted on 1000 infants in the neonatal intensive care unit and outpatient clinics of Fayoum University Hospital and Fayoum General Hospital during August 2017 to April 2018. Detailed history, clinical examination and relevant investigations were performed. Results: The prevalence of CAs was 7.4%. Major malformations accounted for 78.4% and minor malformations 21.6%. The most common CAs involved the cardiovascular system (32.4%), followed by musculoskeletal anomalies (18.9%), chromosomal anomalies (10.8%), anomalies of the central nervous system (9.5%), gastrointestinal tract (6.8%), genital system (5.4%), eyes, head and neck (5.4%), respiratory system (4.1%), multisystems (2 or more) (4.1%), and renal and urinary systems (2.7%). 82.4% of cases were from rural areas, 62.1% were male, 36.5% were female and 1.4% were ambiguous. 85.1% of neonates with malformations were full term. Conclusion: Cardiovascular, musculoskeletal and chromosomal anomalies were the most common CAs in our study. Positive consanguinity, poor attendance at antenatal clinics, rural residence and multiparty were the most common risk factors associated with CAs.


Assuntos
Anormalidades Congênitas , Anormalidades Congênitas/epidemiologia , Consanguinidade , Estudos Transversais , Egito/epidemiologia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Gravidez , Prevalência , Fatores de Risco
16.
West Afr J Med ; 38(8): 738-742, 2021 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-34499832

RESUMO

BACKGOUND: Major Congenital anomalies are conditions that are severe enough to reduce life expectancy or compromise normal function. The introduction of prenatal screening for fetal anomalies to mid-trimester ultrasonography allows for early detection of many anomalies including the major ones. Once the diagnosis is made, the parents have the options of either terminating or continuing with the pregnancy after proper counselling. The purpose of this study is to determine the pattern of pregnancy termination for major congenital anomalies in our hospital after seven years of commencement of the screening programme. METHODS: This was a retrospective study in which all women who presented for prenatal ultrasound screening for fetal anomalies at the University College Hospital, Ibadan, Nigeria between August 2012 and July 2019 were scanned. Those with ultrasound diagnosed major fetal anomalies were counselled on the severity of the anomalies and were given the options of either continuing with the pregnancy or terminating it. All the data were recorded in a spreadsheet while Statistical analysis was performed using the IBM-SPSS version 20 spreadsheet. RESULTS: During the seven-year period, three thousand, one hundred and twenty (3,120) fetuses were screened for fetal anomalies, out of which sixty-one (1.95%) had major anomalies. Twenty (32.8%) of the major anomalies were terminated at various stages of pregnancy. Anomalies of the central nervous system and the musculoskeletal system were the most frequently terminated anomalies, each having 8 fetuses. This was followed by anomalies involving more than one system which were diagnosed in 3 of the fetuses. All the mothers were counselled before the termination of the pregnancies. Nineteen (95%) of the anomalies were confirmed after termination. CONCLUSION: The availability of prenatal ultrasound screening permits precise diagnosis of a range of fetal abnormalities, including those incompatible with life. Therefore, termination of pregnancies with major anomalies significantly contributes to the global decrease in perinatal morbidity and mortality associated with birth defects.


Assuntos
Aborto Induzido , Anormalidades Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Feminino , Humanos , Nigéria , Gravidez , Estudos Retrospectivos , Centros de Atenção Terciária , Ultrassonografia
17.
Med Sci Monit ; 27: e933915, 2021 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-34561413

RESUMO

BACKGROUND The aim of this study was to assess the effectiveness of bone conduction hearing aids in children under 2 years old who have congenital microtia and atresia. MATERIAL AND METHODS This prospective study involved 42 children under 2 years old with congenital microtia and atresia who were divided into 2 groups: 21 with unilateral defect and 21 with bilateral defect. All children were provided with bone conduction hearing aids on a softband. Air and bone auditory thresholds were assessed by auditory brainstem responses (ABRs). The LittlEARS questionnaire was used to evaluate auditory development at baseline and after 6 months of hearing aids use. Behavioral observation audiometry (BOA) was used to assess auditory thresholds and compare aided and unaided hearing. RESULTS After 6 months of hearing aid use, the total score of the LittlEARS questionnaire in children with unilateral defect was 24±5.60, while children with bilateral defect achieved a result of 26.29±6.17. Hearing thresholds in both groups with bone conduction hearing aids improved significantly and approached the normal level. CONCLUSIONS Our results confirm that bone conduction hearing aids provide an effective method of auditory rehabilitation for children with conductive and mixed hearing loss caused by microtia and atresia. Using bone conduction hearing aids in such children is crucial for proper hearing, speech, and language development.


Assuntos
Condução Óssea/fisiologia , Anormalidades Congênitas/terapia , Microtia Congênita/terapia , Orelha/anormalidades , Auxiliares de Audição , Audiometria/métodos , Anormalidades Congênitas/fisiopatologia , Microtia Congênita/fisiopatologia , Orelha/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Inquéritos e Questionários , Resultado do Tratamento
18.
N Engl J Med ; 385(14): 1292-1301, 2021 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-34587386

RESUMO

BACKGROUND: Structural birth defects occur in approximately 3% of live births; most such defects lack defined genetic or environmental causes. Despite advances in surgical approaches, pharmacologic prevention remains largely out of reach. METHODS: We queried worldwide databases of 20,248 families that included children with neurodevelopmental disorders and that were enriched for parental consanguinity. Approximately one third of affected children in these families presented with structural birth defects or microcephaly. We performed exome or genome sequencing of samples obtained from the children, their parents, or both to identify genes with biallelic pathogenic or likely pathogenic mutations present in more than one family. After identifying disease-causing variants, we generated two mouse models, each with a pathogenic variant "knocked in," to study mechanisms and test candidate treatments. We administered a small-molecule Wnt agonist to pregnant animals and assessed their offspring. RESULTS: We identified homozygous mutations in WLS, which encodes the Wnt ligand secretion mediator (also known as Wntless or WLS) in 10 affected persons from 5 unrelated families. (The Wnt ligand secretion mediator is essential for the secretion of all Wnt proteins.) Patients had multiorgan defects, including microcephaly and facial dysmorphism as well as foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. Administration of a pharmacologic Wnt agonist partially restored embryonic development. CONCLUSIONS: Genetic variations affecting a central Wnt regulator caused syndromic structural birth defects. Results from mouse models suggest that what we have named Zaki syndrome is a potentially preventable disorder. (Funded by the National Institutes of Health and others.).


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Congênitas/genética , Pleiotropia Genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Receptores Acoplados a Proteínas G/genética , Proteínas Wnt/metabolismo , Animais , Modelos Animais de Doenças , Fibroblastos/metabolismo , Técnicas de Introdução de Genes , Genes Recessivos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Camundongos , Camundongos Transgênicos , Linhagem , Fenótipo , Receptores Acoplados a Proteínas G/metabolismo , Síndrome , Via de Sinalização Wnt
19.
Curr Opin Otolaryngol Head Neck Surg ; 29(6): 526-533, 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34545861

RESUMO

PURPOSE OF REVIEW: The management of patients with unilateral microtia and aural atresia is complex. Recent literature suggests significant strides in hearing habilitation and ear reconstruction. RECENT FINDINGS: Several options of hearing management are available and are associated with improved outcomes. Timelines for hearing habilitation and ear reconstruction vary by institution. We offer our timeline as a reference. Three dimensional (3D) printed models are increasingly used for training and reconstruction. Bioprinting is on the horizon, though safety and effectiveness studies are pending. Lastly, application of qualitative methods has provided a foundation on which to improve communication between physicians and patients and their families. Better understanding of the patient and family experiences will provide opportunities to target interventions to improve care. SUMMARY: Current developments include expanding options for hearing management, changing approaches to timing of atresiaplasty, utilization of 3D printed models, and focus on patient and family experience to improve reconstructive outcomes.


Assuntos
Anormalidades Congênitas , Microtia Congênita , Procedimentos Cirúrgicos Reconstrutivos , Anormalidades Congênitas/cirurgia , Microtia Congênita/cirurgia , Orelha/cirurgia , Audição , Testes Auditivos , Humanos
20.
Coluna/Columna ; 20(3): 169-173, July-Sept. 2021. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1339744

RESUMO

ABSTRACT Objective To present the preliminary results of the bipolar technique for the surgical treatment of neuromuscular spine deformities. Methods Five patients with neuromuscular scoliosis (cerebral palsy - 3 patients, spinal amyotrophy - 1 patient, and genetic syndrome - 1 patient) underwent surgical treatment using the bipolar technique and were evaluated 12 months after the operation. Results General care and the ability to sit improved in all patients. The main curve ranged from 64.7 to 84.1 degrees (mean 70.58 ± 7.1) in the preoperative period and from 2.6 to 50.3 degrees (mean 25.50 ± 16.0) in the postoperative period with 64% correction. Corrections of pelvic obliquity (85%), T4-T12 kyphosis (43%), the Pisa angle (69%) and the sacroclavicular angle (60%) were observed 12 months following surgery. Postoperative infection (2 patients) and pneumonia (1 patient) were the complications observed. Conclusion The bipolar technique presented good clinical and radiological results associated with low morbidity in the treatment of neuromuscular spine deformities. Level of evidence IV; Case series.


RESUMO Objetivo Apresentar os resultados preliminares da técnica bipolar no tratamento cirúrgico das deformidades neuromusculares da coluna vertebral. Métodos Cinco pacientes com escoliose neuromuscular (paralisia cerebral - três pacientes, amiotrofia espinhal - um paciente, e síndrome genética - um paciente) foram submetidos ao tratamento cirúrgico por meio da técnica bipolar e avaliados 12 meses depois da cirurgia. Resultados Os cuidados gerais e a capacidade de sentar apresentaram melhora em todos os pacientes. A curva principal variou de 64,7 a 84,1 graus (média 70,58 ± 7,1) no pré-operatório e de 2,6 a 50,3 graus (média 25,50 ± 16,0) no pós-operatório, com correção de 64%. A correção da obliquidade pélvica (85%), de cifose T4-T12 (43%), do ângulo de Pisa (69%) e do ângulo sacro clavicular (60%) foi observada depois de 12 meses de pós-operatório. Infecção pós-operatória (dois pacientes) e pneumonia (um paciente) foram as complicações observadas. Conclusão A técnica bipolar apresentou bons resultados clínicos e radiológicos associados a pequena morbidade no tratamento de deformidades neuromusculares da coluna vertebral. Nível de evidência IV; Série de casos.


RESUMEN Objetivo Presentar los resultados preliminares de la técnica bipolar en el tratamiento quirúrgico de las deformidades neuromusculares de la columna. Métodos Cinco pacientes con escoliosis neuromuscular (parálisis cerebral - 3 pacientes, amiotrofia espinal - 1 paciente y síndrome genético - 1 paciente) fueron sometidos a tratamiento quirúrgico mediante técnica bipolar y evaluados a los 12 meses de cirugía. Resultados Los cuidados generales y la capacidad de sentarse mejoraron en todos los pacientes. La curva principal osciló entre 64,7 y 84,1 grados (media 70,58 ± 7,1) en el preoperatorio y entre 2,6 y 50,3 grados (media 25,50 ± 16,0) en el postoperatorio con una corrección del 64%. La corrección de oblicuidad pélvica (85%), cifosis T4-T12 (43%), ángulo de Pisa (69%) y ángulo clavicular sacro (60%) se observó a los 12 meses del posoperatorio. Infección postoperatoria (2 pacientes) y neumonía (1 paciente) fueron las complicaciones observadas. Conclusión La técnica bipolar mostró buenos resultados clínicos y radiológicos asociados a la reducción de la morbilidad en el tratamiento de las deformidades neuromusculares de la columna. Nivel de evidencia IV; Serie de casos.


Assuntos
Humanos , Doenças Neuromusculares , Anormalidades Congênitas , Procedimentos Cirúrgicos Minimamente Invasivos
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