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Rev. esp. anestesiol. reanim ; 70(1): 56-59, Ene. 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-214185


El tronco arterioso persistente es una malformación cardíaca congénita poco frecuente. Si no se corrige, aproximadamente el 50% de los que lo padecen mueren; menos del 20% de estos pacientes sobreviven al primer año de vida. Presentamos el manejo anestésico exitoso de un paciente adulto con tronco arterioso no corregido que se sometió a resección radical laparoscópica de cáncer de recto.(AU)

Persistent truncus arteriosus is a rare congenital heart malformation which if not corrected, results in the death of about 50% of the patients, while fewer than 20% of the patients survive the first year of life. Here, we report the successful anesthetic management of an adult patient with uncorrected truncus arteriosus who presented for the laparoscopic radical resection of rectal cancer.(AU)

Humanos , Feminino , Adulto , Persistência do Tronco Arterial , Neoplasias Retais , Anormalidades Congênitas , Laparoscopia , Pacientes Internados , Exame Físico
Health Promot Chronic Dis Prev Can ; 43(1): 40-48, 2023 Jan.
Artigo em Inglês, Francês | MEDLINE | ID: mdl-36651885


INTRODUCTION: Current published long-term provincial or territorial congenital anomaly data are lacking for Canada. We report on prevalence (per 1000 total births) and trends in 1997-2019, in Alberta, Canada, for selected congenital anomalies. Associated risk factors are also discussed. METHODS: We used data from the Alberta Congenital Anomalies Surveillance System (ACASS) to calculate the prevalence and perform chi-square linear trend analyses. RESULTS: From 1997 to 2019, the overall prevalence of neural tube defects was stable, at 0.74 per 1000 total births. The same was true for spina bifida (0.38), orofacial clefts (1.99), more severe CHDs (transposition of the great arteries, 0.38; tetralogy of Fallot, 0.33; and hypoplastic left heart syndrome, 0.32); and gastroschisis (0.38). Anencephaly, cleft palate and anorectal malformation significantly decreased with a prevalence of 0.23, 0.75 and 0.54 per 1000 total births, respectively. Significantly increasing trends were reported for anotia/microtia (0.24), limb reduction anomalies (0.73), omphalocele (0.36) and Down syndrome (2.21) and for hypospadias and undescended testes (4.68 and 5.29, respectively, per 1000 male births). CONCLUSION: Congenital anomalies are an important public health concern with significant social and societal costs. Surveillance data gathered by ACASS for over 40 years can be used for planning and policy decisions and the evaluation of prevention strategies. Contributing genetic and environmental factors are discussed as is the need for continued surveillance and research.

Fenda Labial , Fissura Palatina , Anormalidades Congênitas , Transposição dos Grandes Vasos , Masculino , Humanos , Alberta/epidemiologia , Prevalência , Anormalidades Congênitas/epidemiologia
Braz. j. oral sci ; 22: e239246, Jan.-Dec. 2023. tab
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-1399767


Aim: To assess the prevalence of cleft lip and/or cleft palate (CL/P) and associated variables in neonates admitted to neonatal intensive care units (ICU). Methods: Medical charts for neonates born and admitted to the ICU between 2012 and 2018 were reviewed. Obstetric and neonatal variables were collected by a trained researcher. In the case group, all neonates with CL/P were included. The control group was formed by matching sex, prematurity and month of birth using random number generation. Neonates with congenital malformations were excluded from the control group. Adjusted logistic regression was used (p<0.05). Results: The prevalence of CL/P was 0.43% (n=15). Five cases were excluded, as pairing was not possible. Twenty neonates were included in the control group. In the final multivariate model, CL/P was only associated with increased maternal age. For each year of increase in maternal age, neonates had a 35.2% higher chance of presenting CL/P (95% confidence interval: 1.021­1.792). Conclusions: Higher maternal age was associated with higher occurrence of CL/P in neonates admitted to the ICU. No other neonatal or maternal independent variables were associated with CL/P. Due to missing data, interpretation of study results must be approached with caution

Anormalidades Congênitas/epidemiologia , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Registros Médicos , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Idade Materna
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 47(11): 1467-1471, 2022 Nov 28.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-36481623


China's maternal and child health work is still facing many challenges, such as unbalanced development and inadequate services. Since the adjustment of the family planning policy, the proportion of older and more productive sub-parturient women have increased, the risk for birth defects has increased, the demand for newborn safety has further increased, and the work of maternal and child health is facing new challenges. The experts from the medicine, medical ethics, sociology, and other fields put forward the principle of ethical guidance for birth defect prevention after full discussion and continuous revision based on expert proposals, which include the principle of life dignity, love, scientific principle, fair principle, respect for autonomy principle, the principle of beneficence and the principle of good privacy protection. The guideline can serve the birth defect prevention clinical practice, be better to respect and safeguard the legitimate rights and interests of people at childbearing age, eliminate ethics cognition pitfalls of birth defect prevention, and regulate the behavior of birth defect prevention-related ethics.

Anormalidades Congênitas , Feminino , Humanos , Recém-Nascido , Anormalidades Congênitas/prevenção & controle
BMC Pregnancy Childbirth ; 22(1): 948, 2022 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-36528557


BACKGROUND: The detection of an abnormality during prenatal screening implies that the parents are informed about possible treatment and management of the pregnancy, birth, and postnatal course. This information should enable the parents to make decisions regarding the pregnancy, especially in cases where termination of pregnancy may be an option. The objectives of this study were to investigate how often doctors informed parents about pregnancy termination when the fetus had an anomaly and which demographic factors were related to parental decision-making. METHODS: This was a retrospective cohort study with prospectively collected data of fetuses diagnosed with an abnormality during prenatal screening between 2014 and 2016 in Denmark. We categorized the abnormalities into five long-term prognosis groups and analyzed their association with the doctor provided information about termination. We tested the association between demographic variables and parental decisions using univariate and multivariate statistical analyses. RESULTS: Three hundred and twenty fetuses were diagnosed with an abnormality. In 67% of these cases, the parents were informed about termination. All parents whose fetus had a lethal prognosis were informed about termination. By comparison, the parents of 98% of fetuses with genetic disorders, 96% of fetuses with poor prognosis, 69% of fetuses with uncertain prognosis, and 12% of fetuses with good prognosis were informed about termination. Of these parents, 92% chose to terminate. A lethal long-term prognosis was the only factor related to parental decision to terminate a pregnancy. CONCLUSIONS: Doctors mainly informed parents about the option of pregnancy termination for conditions with a poor or lethal long-term prognosis or for genetic disorders. Only conditions with a lethal prognosis were significantly related to the parental decision to terminate the pregnancy.

Aborto Induzido , Anormalidades Congênitas , Gravidez , Feminino , Humanos , Estudos de Coortes , Estudos Retrospectivos , Tomada de Decisões , Diagnóstico Pré-Natal , Pais , Anormalidades Congênitas/diagnóstico
Arch. pediatr. Urug ; 93(2): e221, dic. 2022. tab
Artigo em Espanhol | LILACS, MMyP, BNUY, UY-BNMED | ID: biblio-1411435


Los defectos congénitos son alteraciones morfológicas que se originan durante la vida intrauterina que se presentan hasta en un 5% de los recién nacidos vivos. Tienen múltiples etiologías, siendo esta multifactorial en el 90% de los casos. Se realizó un estudio observacional, prospectivo, descriptivo incluyendo a todos los recién nacidos portadores de defectos congénitos en el período 2016-2020. El objetivo de este trabajo es determinar la incidencia de defectos congénitos en recién nacidos del Centro Hospitalario Pereira Rossell en el período mencionado, así como conocer su distribución por aparatos y sistemas, las características demográficas de esta población, la prevalencia de diagnóstico prenatal y la exposición materna a factores de riesgo durante la organogénesis. Se obtuvo una incidencia de 1,7% (423 recién nacidos afectados en 24.870 nacimientos), de los cuales el 34,98% contaba con diagnóstico prenatal. El sistema cardiovascular fue el que presentó una mayor frecuencia de alteraciones, y el defecto congénito más frecuentemente observado individualmente fue la gastrosquisis, con una incidencia de 15,28 cada 10.000 nacidos vivos. La diabetes gestacional se presentó en el 17,25% de las gestantes. Este trabajo nos permitió conocer la incidencia de defectos congénitos, así como su distribución por aparatos y sistemas. Este tipo de sistemas de vigilancia resultan fundamentales para identificar elementos a mejorar, que permitan disminuir la morbilidad y mortalidad de estos pacientes y también identificar precozmente factores de riesgo que aumenten estas patologías de forma significativa.

Congenital birth defects are morphological disturbances originated during gestation and present in up to 5% of live births. They have multiple etiologies, in 90% of cases of multifactorial origin. A longitudinal, prospective, observational study was carried out and it included all patients with congenital birth defects in 2016-2020. The main objective of this study was to determine the incidence of newborns with congenital birth defects between 2016 and 2020, to determine their distribution by organ, to describe their demographic characteristics, to calculate the prevalence of prenatal diagnosis and to identify maternal risk factors. We obtained an incidence of 1,7% (423 affected newborns in 24870 live births), 34,98% had prenatal diagnoses. The cardiovascular system was the most frequently affected and when classified by individual birth defect, the most frequently observed was gastroschisis with 15.28 cases in 10,000 live births. Gestational diabetes was the maternal risk factor most frequently observed with 17, 25%. This study enabled us to know the incidence of congenital birth defects and their distribution by different organs at our center. These surveillance systems are key to identify areas of potential improvement that might enable us to mitigate morbidity and mortality in this group of patients.

Os defeitos congênitos são alterações morfológicas que se originam durante a vida intrauterina e ocorrem em até 5% dos recém-nascidos vivos. Possuem múltiplas etiologias, sendo multifatoriais em 90% dos casos. Realizou-se um estudo observacional, prospectivo e descritivo incluindo todos os recém-nascidos com defeitos congênitos no período 2016-2020. O objetivo deste trabalho foi determinar a incidência de defeitos congênitos em recém-nascidos do Centro Hospitalar Pereira Rossell no período 2016-2020, bem como conhecer sua distribuição por órgãos e sistemas, as características demográficas dessa população, a prevalência de diagnóstico pré-natal e exposição materna a fatores de risco durante a organogênese. Obteve-se uma incidência de 1,7% (423 recém-nascidos afetados em 24.870 nascimentos), dos quais 34,98% tiveram diagnóstico pré-natal. O sistema cardiovascular foi o que apresentou maior frequência de alterações, e o defeito congênito mais observado individualmente foi a gastrosquise com incidência de 15,28 em cada 10.000 nascidos vivos. O diabetes gestacional ocorreu em 17,25% das gestantes. Este paper permitiu conhecer a incidência de defeitos congênitos, bem como sua distribuição por órgãos e sistemas. Estes tipos de sistemas de vigilância são essenciais para identificar elementos a melhorar, que permitam reduzir a morbilidade e mortalidade desses pacientes e também identificar precocemente fatores de risco que aumentam significativamente essas patologias.

Humanos , Masculino , Recém-Nascido , Anormalidades Congênitas/epidemiologia , Diagnóstico Pré-Natal , Uruguai/epidemiologia , Anormalidades Congênitas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Incidência , Estudos Prospectivos , Fatores de Risco , Distribuição por Sexo , Anormalidades Cardiovasculares/epidemiologia , Anormalidades do Sistema Digestório/epidemiologia
Medicine (Baltimore) ; 101(48): e32148, 2022 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-36482591


Congenital anomalies (CA) are any abnormality present at birth, either structural or functional, that may potentially affect an infant's health, development, and/or survival. There is a paucity of studies on clinical characteristics and outcomes of CA in Bosnia and Herzegovina, mainly due to the lack of a nationwide congenital malformations monitoring system. A 5-year hospital-based study was conducted to determine the prevalence at birth and clinical characteristics of selected major CA in Sarajevo Canton, Bosnia and Herzegovina. Ninety-one CA were observed from 2012 to 2016 (the overall prevalence was 39.6 cases/10,000 live births). The mean age of neonates at diagnosis was 3 days. The gastrointestinal tract was the most commonly affected system (76.9%), with esophageal atresia (EA) being the most frequent (17.6% of all CA). Major CA were more prevalent among preterm infants than term infants (P = .001), particularly in males (61.5% vs. 38.5%; P = .028; M:F ratio was 1.59). Multiple CA were seen in 37.4% of neonates. The overall mortality rate of neonates was 11%, and the median length of hospital stay was 19.8 days. Our study revealed the distribution and clinical patterns of common major CA in the largest tertiary care facility in Bosnia and Herzegovina. It also confirmed a relatively high mortality rate, which requires further efforts to improve the quality of neonatal care in the country.

Anormalidades Congênitas , Recém-Nascido Prematuro , Criança , Humanos , Recém-Nascido
J Int Adv Otol ; 18(6): 482-487, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36349669


BACKGROUND: This study aimed to examine the plasticity of nerves indirectly by acoustic reflex after surgical repair of unilateral congenital aural atresia. METHODS: This study is a retrospective study including 80 patients who had undergone surgical repairs of congenital aural atresia before 18 years old and for whom acoustic reflex testing was performed postoperatively. Several variables correlated with acoustic reflex were analyzed to find factors affecting the presence of acoustic reflex. RESULTS: Among 80 patients, 44 were positive for acoustic reflex. As a result of multivariate analysis, good postoperative hearing (P = .017), younger age at surgery (P = .028), and the longer time interval between surgery and acoustic reflex test (P = .040) were revealed as factors affecting the acoustic reflex. CONCLUSION: Acoustic reflex was present in 55% of surgically managed patients with congenital aural atresia. The results of this study imply that the reflex arc of acoustic reflex may be restored after proper surgical reconstruction and prolonged use of reconstructed ear in patients with unilateral congenital aural atresia.

Anormalidades Congênitas , Humanos , Adolescente , Estudos Retrospectivos , Reflexo Acústico , Orelha/cirurgia , Orelha/anormalidades , Anormalidades Congênitas/cirurgia
Rev. esp. anestesiol. reanim ; 69(9): 602-605, Nov. 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-211685


La ventilación de alta frecuencia oscilatoria (VAFO) es una modalidad ventilatoria ampliamente utilizada en las unidades de cuidados intensivos neonatales. Su principal indicación es la patología pulmonar restrictiva con dificultad en alcanzar un adecuado intercambio gaseoso en ventilación mecánica convencional (VMC), siendo necesaria una elevada asistencia que puede suponer riesgo de barotrauma y volutrauma en un pulmón inmaduro. Las publicaciones sobre el empleo de VAFO en quirófano son limitadas y se reducen principalmente a su uso durante la reparación de hernia diafragmática congénita. La limitada experiencia de este método ventilatorio en quirófano puede suponer una barrera para el anestesiólogo. Sin embargo, es importante recordar los beneficios que esta modalidad ventilatoria aporta como estrategia de protección pulmonar. Se presentan dos casos de hipoplasia pulmonar neonatal de diferente etiología, en los que se empleó VAFO en el intraoperatorio con buenos resultados en la oxigenación y ventilación.(AU)

High-frequency oscillatory ventilation (HFOV) is a ventilatory modality widely used in neonatal intensive care units. Its main indication is restrictive lung pathology with difficult gas exchange using conventional mechanical ventilation (CMV). Patients receiving CMV require high intensity care, and immature lungs can be at risk for barotrauma and volutrauma. The few studies that have explored the use of HFOV in the operating room are mainly limited to HFVO during congenital diaphragmatic hernia repair. Limited experience of this ventilatory method in the operating room may be a disadvantage for the anesthesiologist. However, it is important to remember the benefits of this technique as a lung protection strategy. We report two cases of neonatal pulmonary hypoplasia of different etiology in which good oxygenation and ventilation was achieved with intraoperative HFOV.(AU)

Humanos , Recém-Nascido , Ventilação , Ventilação de Alta Frequência , Pulmão/anormalidades , Anormalidades Congênitas , Pacientes Internados , Exame Físico , Reanimação Cardiopulmonar , Anestesiologia , Pneumopatias , Espanha
BMC Pregnancy Childbirth ; 22(1): 788, 2022 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-36274153


BACKGROUND: Recent advances in prenatal screening and diagnosis have resulted in an increasing number of women receiving a diagnosis of fetal anomalies. In this study, we aimed to clarify the hopes for childbirth and parenting of women diagnosed with fetal anomalies and to suggest a family-centered care tailored for this situation in perinatal settings. METHODS: A descriptive qualitative study was performed. We recruited women diagnosed with fetal anomalies who were over 22 years old, beyond 22 weeks of gestation, and had scheduled pregnancy and delivery management at a tertiary perinatal medical center specializing in neonatal and pediatric care in a metropolitan area of Japan from April 2019 to December 2019. Women who were willing to participate received support from a midwife to create birth plans. Data were collected from the documented birth plans submitted by 24 women and analyzed using content analysis. RESULTS: We identified three themes of women's hopes based on the descriptions of the submitted birth plans: (1) Hopes as women who are expecting childbirth, (2) Hopes as mothers of a baby, (3) Hopes of being involved in the family needs. Several distinctive hopes were clarified in the context of the women's challenging situations. In describing their hopes, the women were neither overoptimistic or overstated their actual situations, nor caused embarrassment to the healthcare providers. The importance of supporting their involvement in baby matters in the way each family wants also emerged. However, several barriers to fulfilling the women's hopes were identified including the babies' conditions and hospital regulations against family visits or presence. CONCLUSION: All three themes identified in the study provide important insights for analyzing more deeply ways of implementing a family-centered care for women diagnosed with fetal anomalies in perinatal settings. To improve women's engagement in decision-making as a team member, women's hopes should be treated with dignity and respect, and included in the perinatal care of women with abnormal fetuses. Further research is needed to improve the inclusion of women's hopes in their care in clinical settings. TRIAL REGISTRATION: UMIN Clinical Trials Registry: UMIN000033622 (First registration date: 03/08/2018).

Anormalidades Congênitas , Esperança , Diagnóstico Pré-Natal , Adulto , Feminino , Humanos , Gravidez , Adulto Jovem , Japão , Tocologia , Parto , Pesquisa Qualitativa , Anormalidades Congênitas/diagnóstico
Am J Case Rep ; 23: e936806, 2022 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-36227783


BACKGROUND Solitary fibrous tumors (SFT), rare soft-tissue neoplasms, are usually found in the thoracic cavity, and a uterine origin is extremely rare. SFTs with insulin-like growth factor-II (IGF-II) production induce non-islet cell tumor-induced hypoglycemia (NICTH), referred to as Doege-Potter syndrome. CASE REPORT A 70-year-old woman presented with urinary retention, and imaging revealed a huge mass occupying almost the entire pelvic space. She had a history of hysterectomy for leiomyoma of the uterus 7 years earlier. In her present course, she developed hypoglycemia, and NICTH was suspected. Her previous uterine specimen was reexamined, and immunohistochemistry (IHC) revealed the specimen to be CD34-positive and alpha-smooth muscle actin-negative, indicating that the uterine specimen was not leiomyoma but SFT. Therefore, the present pelvic tumor was considered to be a recurrence of SFT with NICTH, namely Doege-Potter syndrome. Surgical resection was performed, and the pathological examination showed the same histologic features as the previous uterine specimen, while IHC revealed the present specimen to be positive for CD34, signal transducers and activator of transcription 6, and IGF-II, consistent with the diagnosis of recurrent SFT with IGF-II production. The patient's hypoglycemia improved after tumor resection. To confirm the IGF-II secretion from the SFT, we conducted immunoblotting of the patient's perioperative serum, with results showing that the strong band of IGF-II in the preoperative serum disappeared after surgery. CONCLUSIONS Because SFTs, especially those with Doege-Potter syndrome, often recur, sometimes with a very long interval, long-term cautious surveillance is required, even after complete tumor resection.

Hipoglicemia , Síndromes Paraneoplásicas , Febre Grave com Síndrome de Trombocitopenia , Tumores Fibrosos Solitários , Actinas , Idoso , Anormalidades Congênitas , Feminino , Humanos , Hipoglicemia/etiologia , Fator de Crescimento Insulin-Like II , Rim/anormalidades , Nefropatias/congênito , Síndromes Paraneoplásicas/diagnóstico , Tumores Fibrosos Solitários/complicações , Tumores Fibrosos Solitários/cirurgia , Anormalidades Urogenitais , Útero
Fertil Steril ; 118(4): 805-807, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36182266


OBJECTIVE: To our knowledge, we present the first video demonstration of the laparoscopic removal of bilateral uterine remnants for symptomatic unilateral leiomyomas in a patient with Müllerian agenesis. DESIGN: A video case report. SETTING: An academic medical center. PATIENT: A 44-year-old woman, gravida 0, with a history of Müllerian agenesis with presumed single uterine remnant who presented with worsening lower abdominal fullness and discomfort in the setting of known leiomyomas. Magnetic resonance imaging of the pelvis revealed a single rudimentary uterine remnant with 3 dominant leiomyomas, with the largest measuring 5.8 × 5.3 × 5.2 cm. After extensive counseling, she opted for definitive surgical management. She provided written consent for video recording and publication of this surgical case. INTERVENTION(S): Laparoscopic removal of bilateral uterine remnants, bilateral salpingectomy, and cystoscopy. MAIN OUTCOME MEASURE(S): Laparoscopic removal of bilateral uterine remnants with multiple unilateral leiomyomas, leading to resolution of lower abdominal bulk symptoms. RESULT(S): Diagnostic laparoscopy revealed a right 12-cm pelvic mass consisting of a uterine remnant with 3 dominant leiomyomas, left 2-cm rudimentary uterine remnant, bilateral atrophic fallopian tubes, bilateral normal ovaries, and absent cervix and upper vagina. Procedure was uncomplicated with an estimated blood loss of 25 mL. Patient was discharged on the same day of surgery after meeting required milestones. Pathologic examination of the specimens was consistent with intraoperative findings. CONCLUSION(S): Müllerian agenesis is a rare congenital anomaly of the female reproductive tract in which uterine remnants may be found. Leiomyoma formation in uterine remnants is rare but possible. Magnetic resonance imaging is the most sensitive imaging modality for uterine remnants but not always accurate. When leiomyomas become symptomatic, surgery is the only definitive management option with laparoscopy as the standard of care when possible. Minor changes to the minimally invasive approach may be necessary to accommodate for anatomical differences.

Transtornos 46, XX do Desenvolvimento Sexual , Laparoscopia , Leiomioma , Doenças do Colo do Útero , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Adulto , Anormalidades Congênitas , Feminino , Humanos , Laparoscopia/métodos , Leiomioma/complicações , Leiomioma/diagnóstico por imagem , Leiomioma/cirurgia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/diagnóstico por imagem , Ductos Paramesonéfricos/cirurgia , Anormalidades Urogenitais , Doenças do Colo do Útero/cirurgia , Útero/anormalidades , Útero/diagnóstico por imagem , Útero/cirurgia
Rev. esp. patol ; 55(4): 292-296, Oct-Dic. 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-210622


Los quistes broncogénicos se originan de anomalías en el desarrollo del árbol traqueobronquial durante el periodo embrionario temprano. Su localización más frecuente es el mediastino posterior. Los quistes broncogénicos de localización retroperitoneal son raros y más todavía los intrapancreáticos.Presentamos un caso de un quiste broncogénico intrapancreático asintomático en un hombre de 61 años detectado casualmente en una revisión urológica.(AU)

Bronchogenic cysts arise from abnormalities of the tracheobronchial tree occurring during the early stages of embryonal development. They are most often found in the posterior mediastinum. Retroperitoneal bronchogenic cysts are infrequent and intrapancreatic bronchogenic cysts extremely rare. We present a case of an asymptomatic, intrapancreatic bronchogenic cyst which was an incidental finding during the urological workup of a 61-year-old man.(UA)

Humanos , Masculino , Pessoa de Meia-Idade , Cisto Broncogênico , Cisto Pancreático , Anormalidades Congênitas , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Anamnese , Hipertensão , Talassemia , Nefrolitíase , Patologia , Serviço Hospitalar de Patologia , Neoplasias , Neoplasias Retroperitoneais
Cir. pediátr ; 35(4): 172-179, Oct. 2022. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-210859


Introducción: Las anomalías nefrourológicas congénitas (CAKUT),constituyen un grupo de enfermedades de gran relevancia por su altaprevalencia y por ser la principal causa de enfermedad renal crónica(ERC) en la población pediátrica. Nuestro objetivo es conocer las ca-racterísticas y la prevalencia de CAKUT en nuestro medio, identificandolos factores asociados a la aparición de daño renal. Material y métodos: Estudio retrospectivo, descriptivo, analíticoy transversal, que incluyó los pacientes atendidos en la consulta deNefrología Pediátrica de un hospital de tercer nivel desde el 1 de eneroal 31 de diciembre de 2018. Se analizaron variables epidemiológicas,clínicas y analíticas, y se buscaron posibles factores de riesgo aso-ciados a ERC.Resultados: Se incluyeron 685 pacientes con 827 unidades rena-les con CAKUT con una edad media de 9,98 ± 5,12 años. El 62,2%fueron varones y el seguimiento medio desde el diagnóstico fue de9,95 ± 5,09 años. El 58,8% fueron dilataciones no obstructivas, se-guido por displasia renal, dilataciones obstructivas y anomalías denúmero y posición. La malformación más frecuente fue el reflujovesicoureteral (RVU). El lado más afectado fue el izquierdo (47,5%).El 55% de los diagnósticos fueron prenatales. Fueron intervenidos172 pacientes. El tratamiento inicial de elección en el RVU fue en-dourológico. La tasa de reintervención global alcanzó el 20%. Deltotal de pacientes, se pudo analizar el filtrado glomerular en 383pacientes, de los cuales 95 (24,8%) tenían ERC (86% en estadio 2).El sexo masculino, la bilateralidad y la proteinuria fueron factoresde riesgo asociados a la ERC. Conclusiones: El conocimiento de las características epidemioló-gicas y clínicas de los niños con CAKUT y de los factores asociados ala ERC ayuda a individualizar el seguimiento clínico de estos pacientesadecuando las pruebas diagnósticas y los recursos sanitarios.(AU)

Introduction: Congenital nephrourological abnormalities (CAKUT)are a particularly relevant group of diseases due to their high prevalenceand the fact they are the main cause of chronic renal disease (CRD) in thepediatric population. Our objective was to determine the characteristicsand prevalence of CAKUT in our setting, while identifying the factorsassociated with the occurrence of renal damage. Materials and methods: A retrospective, descriptive, analytical, cross-sectional study of patients seen in the Pediatric NephrologyDepartment of a third-level hospital from January 1 to December 31,2018 was carried out. Epidemiological, clinical, and analytical variables were assessed, and potential risk factors associated with CRDwere searched for.Results: The study involved 685 patients with 827 kidney unitsaffected by CAKUT with a mean age of 9.98 ± 5.12 years. 62.2% weremale, and the mean follow-up period after diagnosis was 9.95 ± 5.09years. 58.8% were non-obstructive dilations, followed by renal dysplasia,obstructive dilations, and number and position abnormalities. The mostfrequent malformation was vesicoureteral reflux (VUR). The most commonly affected side was the left (47.5%). 55% of the diagnoses wereprenatal. 172 patients underwent surgery. The initially chosen treatmentfor VUR was endourological. Overall re-intervention rate was 20%. Ofthe total number of patients, glomerular filtration rate was analyzed in383, 95 (24.8%) of whom had CRD (86% in stage 2). Male sex, bilateral ity, and proteinuria were risk factors associated with CRD. Conclusions: Knowledge of the epidemiological and clinical characteristics of children with CAKUT and the factors associated withCRD helps to individualize the clinical follow-up of these patients, thuscustomizing diagnostic tests and healthcare resources.(AU)

Humanos , Criança , Sistema Urinário , Anormalidades Congênitas , Insuficiência Renal Crônica , Rim/anormalidades , Refluxo Vesicoureteral , Taxa de Filtração Glomerular , Pediatria , Saúde da Criança , Cirurgia Geral , Estudos Retrospectivos , Epidemiologia Descritiva , Estudos Transversais
Rev. Ciênc. Plur ; 8(3): 24605, out. 2022. ilus, tab
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-1399020


Introdução: a importância diagnóstica do Zika vírus reside na capacidade de transmissão vertical e seu elevado potencial teratogênico, que tem resultado em anormalidades congênitas cerebrais. Dentre as anomalias congênitas em fetos advindas do contagio do vírus na gestação, a de maior destaque é a microcefalia, sugerindo assim uma nova síndrome congênita: Síndrome Congênita do Zika. Objetivo:gerar um debate sobre o enfrentamento dos desafios no cuidado a crianças com Síndrome Congênita do Zika dentro da Atenção Primária a Saúde no Brasil, sob luz dos pressupostos dos seus atributos essências e derivados. Metodologia:trata-se de um ensaio teórico e analítico, apresentado na forma de exposição reflexiva, foi realizado revisão da literatura da área que contou com busca nas bases eletrônicas de dados da Biblioteca Virtual em Saúde Pública; Biblioteca Virtual em Saúde, englobando as fontes de informação da LILACS, SCIELOe Google Acadêmico. Foram utilizados os descritores 'atenção primária a saúde' articulado à palavra-chave 'atributos' pelo operador booleano AND. Resultados:A Atenção Primária ainda enfrenta muitos desafios para que possa desempenhar seu papel de organizadora do sistema e coordenadora do cuidado em saúde para o público com Síndrome Congênita do Zika, porém destaca-se a abordagem que reconhece a importância da família com adoção do modelo da Classificação Internacional de Funcionalidade e Incapacidade em Saúde na orientaçãodos casos. Conclusão:O presente estudo permitiu dar início ao debate da importância da Atenção Primária à Saúde na condução do público acometido pela Síndrome Congênita do Zika a partir do ano de 2015 no Brasil, merecendo destaque a necessidade de tomadade decisão relativo à melhoria quanto ao posicionamento de responsabilização por este usuário, tanto por parte das equipes de saúde da família quanto pelos gestores (AU).

Introduction:the diagnostic importance of the Zika virus lies in its capacity for vertical transmission and its high teratogenic potential, which has resulted in congenital brain abnormalities. Among the congenital anomaliesin fetuses resulting from the contagion of the virus during pregnancy, the most prominent is microcephaly, thus suggesting a new congenital syndrome: Congenital Zika Syndrome. Objective:to generate a debate on facing the challenges in caring for childrenwith Congenital Zika Syndrome within Primary Health Care in Brazil, in the light of the assumptions of its essential and derived attributes. Methodology:this is a theoretical and analytical essay, presented in the form of a reflective exposition, a literature review was carried out in the area, which included a search in the electronic databases of the Virtual Public Health Library; Virtual Health Library, encompassing LILACS, SCIELOand Academic Googleinformation sources. The descriptors 'primary healthcare' articulated to the keyword 'attributes' by the Boolean operator AND were used. Results:The Primary Health Carestill faces many challenges so that it can play its role of organizer of the system and coordinator of health care for the public with Congenital Zika Syndrome, but the approach that recognizes the importance of the family with the adoption of the model of International Classification of Functioning and Disability in Health in case orientation. Conclusion:The present study allowed us to start the debate on the importance of Primary Health Care in guiding the public affected by the Congenital Zika Syndrome from the year 2015 in Brazil, highlighting the need for decision-making regarding the improvement of the positioning responsibility for this user, both by the family health teams and by the managers (AU).

Introducción:la importancia diagnóstica del virus Zika radica en su capacidad de transmisión vertical y su alto potencial teratogénico, lo que hayresultado en anomalías cerebrales congénitas. Entre las anomalías congénitas en fetos derivadas del contagio del virus durante el embarazo, la más destacada es la microcefalia, sugiriendo así un nuevo síndrome congénito: el Síndrome Congénito Zika. Objetivo:generar un debate sobre el enfrentamiento de los desafíos en el cuidado de niños con Síndrome Congénito de Zika en la Atención Primaria de Salud en Brasil, a la luz de los supuestos de sus atributos esenciales y derivados. Metodología:se trata de un ensayo teórico y analítico, presentado en forma de exposición reflexiva, se realizó una revisión bibliográfica en el área, que incluyó una búsqueda en las bases de datos electrónicas de la Biblioteca Virtual en Salud Pública; Biblioteca Virtual en Salud, confuentes de información LILACS, SCIELOy Google académico. Se utilizaron los descriptores 'atención primaria de salud' articulados a la palabra clave 'atributos' por el operador booleano AND. Resultados:La Atención Primaria de Saludaún enfrenta muchos desafíos para que pueda desempeñar su papel de organizador del sistema y coordinador de la atención a la salud de la población con Síndrome Congénito de Zika, pero el abordaje que reconoce la importancia de la familia con la adopción del modelo de Clasificación Internacional de Funcionamiento y Discapacidad en Salud en la orientación de casos. Conclusión:El presente estudio permitió iniciar el debate sobre la importancia de la Atención Primaria de Salud en la orientación del público afectado por el Síndrome Congénito de Zika a partir del año 2015 en Brasil, destacando la necesidad de la toma de decisiones sobre la mejora del posicionamiento de la responsabilidad por este usuario, tanto por los equipos de salud de la familia como por los gestores (AU).

Humanos , Atenção Primária à Saúde , Anormalidades Congênitas/patologia , Estratégias de Saúde Nacionais , Saúde da Família , Infecção por Zika virus/congênito , Saúde Pública , Microcefalia/diagnóstico
Medisan ; 26(5)sept.-oct. 2022. tab
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1405842


Introducción: El espectro de secuelas de la tortícolis muscular congénita es amplio. Algunos niños con dichas secuelas requieren de costosas y complejas operaciones. Objetivo: Determinar los factores precondicionantes asociados a secuelas orgánicas de la tortícolis muscular congénita en pacientes desde un mes hasta 5 años de edad. Métodos: Se realizó un estudio retrospectivo, analítico, no experimental de casos y controles que incluyó a niños con diagnóstico de tortícolis muscular congénita, atendidos en la consulta de Neurodesarrollo del Hospital Infantil Antonio María Beguez César de Santiago de Cuba, desde enero del 2017 hasta diciembre del 2020. El grupo de casos quedó conformado por todos los pacientes con complicaciones orgánicas de la tortícolis muscular congénita (24 niños) y el de control, por quienes no presentaron dichas complicaciones (72), seleccionados mediante un muestreo aleatorio simple. Resultados: El sexo masculino predominó en los pacientes con complicaciones (62,5 %). La plagiocefalia y la asimetría facial fueron las secuelas más frecuentes. La edad menor de 6 meses en el momento del diagnóstico de la entidad constituyó un factor protector (OR = 0,12; IC 95 %: 0,04-0,33; p=0,000); hubo asociación de las complicaciones con el parto distócico (OR = 0,36; IC 95 %: 0,13-1,01; p=0,049) y con la macrosomía fetal (OR = 5,7; IC 95 %: 1,44-22,2; p=0,014). También existió asociación altamente significativa de las complicaciones con la asimetría de ambos músculos esternocleidomastoideos (OR = 11,4; IC 95 %: 3,7-34,9; p=0,000) y con el inicio tardío del tratamiento (OR = 8,5; IC 95 %: 3,0-24,1; p=0,000). Conclusiones: El parto distócico, la macrosomía fetal, la asimetría entre ambos músculos esternocleidomastoideos y el inicio tardío del tratamiento rehabilitador incrementaron el riesgo de complicaciones en los integrantes de la casuística.

Introduction: The spectrum of sequela of the congenital muscular wryneck is wide. Some children with these sequela require expensive and complex operations. Objective: To determine the precondicionant factors associated with organic sequela of the congenital muscular wryneck in patients since one month to 5 years. Methods: A retrospective, analytic, non experimental of cases and controls study was carried out that included children with diagnosis of congenital muscular wryneck, assisted in the Neurodevelopment Service of Antonio María Beguez Cesar Children Hospital in Santiago de Cuba, from January, 2017 to December, 2020. The group of cases was conformed by all the patients with organic complications of the congenital muscular wryneck (24 children) and the control group, for those who didn't present these complications (72), selected by means of a simple random sampling. Results: The male sex prevailed in the patients with complications (62.5 %). The plagiocephaly and the facial asymmetry were the most frequent sequela. The age under 6 months in the moment of the diagnosis of the entity constituted a protective factor (OR = 0.12; IC 95 %: 0.04-0.33; p=0.000); there was association of the complications with the dystocic childbirth (OR = 0.36; IC 95 %: 0.13-1.01; p=0.049) and with the fetal macrosomia (OR = 5.7; IC 95 %: 1.44-22,2; p=0.014). There was also highly significant association of the complications with the asymmetry of both sternocleidomastoid muscles (OR = 11.4; IC 95 %: 3.7-34.9; p=0-000) and with the late beginning of the treatment (OR = 8.5; IC 95 %: 3.0-24.1; p=0.000). Conclusions: The dystocic childbirth, fetal macrosomia, asymmetry between both sternocleidomastoid muscles and the late beginning of the rehabilitative treatment increased the risk of complications in the members of the case material.

Anormalidades Congênitas , Torcicolo , Criança