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1.
Arch. argent. pediatr ; 118(2): e194-e198, abr. 2020. ilus
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1100477

RESUMO

La pseudoartrosis congénita de la clavícula es una malformación rara y benigna, caracterizada por la ausencia del tercio medio de la clavícula. Suele ser unilateral y mayoritaria en el lado derecho. La etiología es desconocida y se postulan diversas teorías etiopatogénicas (vascular, embriológica y genética).Puede detectarse en el período neonatal o, más frecuentemente, durante la infancia. En ocasiones, puede ser sintomática. Puede requerir tratamiento mediante reconstrucción quirúrgica por injerto óseo.Se presentan 2 casos, uno de diagnóstico neonatal y otro de 3 años de edad realizados con 24 h de diferencia. Se destaca la consideración de este diagnóstico como diferencial de fractura obstétrica o postraumática, displasia cleidocraneal y neurofibromatosis de tipo 1.


The congenital pseudoarthrosis of the clavicle is a rare and benign malformation, characterized by the absence of the middle third of the clavicle. It is usually unilateral and the majority on the right side. The etiology is unknown, postulating diverse etiopathogenic theories (vascular, embryological and genetic).It can be detected in the neonatal period or, more frequently, during childhood. Occasionally it can be symptomatic. It may require treatment by surgical reconstruction by bone graft. Two cases are presented, one of neonatal diagnosis and another one of 3 years of age performed with 24 hours of difference. We emphasize on its consideration as a differential diagnosis of obstetric or post-traumatic fracture, cleidocranial dysplasia and neurofibromatosis type I.


Assuntos
Humanos , Feminino , Recém-Nascido , Pré-Escolar , Pseudoartrose/congênito , Clavícula/anormalidades , Pseudoartrose/diagnóstico por imagem , Anormalidades Congênitas , Diagnóstico Diferencial
2.
Rev. Univ. Ind. Santander, Salud ; 52(1): 51-59, ene.-mar. 2020. tab, graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1092273

RESUMO

Resumen Introducción: La incidencia de las anomalías congénitas es de 0,5% dentro de los cuales el 0,1-0,3% corresponden a anomalías cromosómicas estructurales, entre ellas están las translocaciones no balanceadas en las que hay pérdida o ganancia de información genética que da como resultado manifestaciones fenotípicas con compromiso en la salud de quienes las padecen. Reporte de caso: Se describe un paciente escolar con una translocación no balanceada t(5;7) (q22;p15) de origen paterno y sus repercusiones. Discusión: Cuando existen reordenamientos en el material genético, las manifestaciones clínicas están ligadas a la localización de los puntos de ruptura y como consecuencia a los genes que estén incluidos en estos segmentos, tal como se presentó en nuestro caso índice. Conclusiones: Es importante el estudio de estos pacientes ya que deben permanecer en vigilancia médica por el riesgo de desarrollar patologías relacionadas con alteraciones en los genes implicados en el reordenamiento genético.


Abstract Introduction: The incidence of congenital anomalies is 0,5%, wich 0,1 to 0,3% belong to structural chromosomic anomalies, between these are unbalanced translocations in which there are loss or gain of genetic information that results in phenotypic manifestations with health compromise of whom suffer it. Case report: A scholar patient with an unbalanced translocation t(5;7) (q22;p15) of paternal origin and its repercussions is described. Discussion: When there are rearrangements in genetic material, the clinical manifestations are linked to breakpoints localizations and as consequence to the genes included in this segments, as presented in our index case. Conclusions: The study of these patients is important because they must remain under medical surveillance due the risk of developing pathologies related with gene alterations implicated in the genetic rearrangement.


Assuntos
Humanos , Translocação Genética , Anormalidades Congênitas , Cromossomos Humanos Par 5 , Cromossomos Humanos Par 7 , Cariótipo
3.
Arch. argent. pediatr ; 118(1): 25-30, 2020-02-00. tab, graf
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1095336

RESUMO

Objetivo. Describir las características epidemiológicas, el seguimiento hospitalario y la evolución de los pacientes intervenidos por atresia esofágica y su repercusión en la función pulmonar. Población y métodos. Estudio retrospectivo, longitudinal y analítico. Se revisaron las historias clínicas de pacientes con atresia esofágica nacidos entre 1996 y 2017. Se registraron datos perinatales, tipo de atresia, malformaciones asociadas, complicaciones respiratorias y digestivas, y los datos espirométricos durante tres años. Resultados. Se incluyeron 97 pacientes. El tipo de atresia más frecuente fue el III y el síndrome más frecuente, la trisomía 21. El 13,4 % fallecieron en el período neonatal. El 23,8 % de los pacientes estuvo en seguimiento por Neumología y presentó como complicaciones respiratorias exacerbaciones (el 46,4 %), sibilancias o asma (el 36 %), neumonías (el 26,8 %). El reflujo gastroesofágico fue factor de riesgo de sibilancias (OR 5,31; p = 0,002), exacerbaciones (OR 4,00; p = 0,009) y neumonías (OR 3,24; p = 0,02). En la primera espirometría (n = 20), un 65 % presentaba patrón normal; un 30 %, restrictivo, y un 5 %, mixto. En la segunda espirometría (n = 19), un 42,1 % presentaba patrón normal; un 31,6 %, restrictivo; un 15,8 %, obstructivo, y un 10,5 %, mixto. En la tercera espirometría (n = 14), el 50 % presentaba un patrón espirométrico normal; el 21,4 %, restrictivo; el 14,3 %, obstructivo, y un 14,3 %, mixto. Conclusiones. En nuestra muestra de pacientes, una importante proporción presentó comorbilidades respiratorias y digestivas. La función pulmonar empeoró progresivamente.


Objective. To describe the epidemiological characteristics, hospital follow-up, and course of patients who underwent surgery for esophageal atresia and its consequences on lung function. Population and methods. Retrospective, longitudinal, and analytical study. The medical records of patients with esophageal atresia born between 1996 and 2017 were reviewed. Perinatal data, type of atresia, associated malformations, respiratory and gastrointestinal complications, and spirometry data were recorded over 3 years. Results. A total of 97 patients were included. The most common type of atresia was III, and the most frequent syndrome, trisomy 21; 13.4 % of patients died in the neonatal period; 23.8 % were followed up by the Department of Pulmonology, and their respiratory complications included exacerbations (46.4 %), wheezing or asthma (36 %), and pneumonia (26.8 %). Gastroesophageal reflux was a risk factor for wheezing (OR: 5.31; p = 0.002), exacerbations (OR: 4.00; p = 0.009), and pneumonia (OR: 3.24; p = 0.02). In the first spirometry (n = 20), the pattern was normal in 65 %; restrictive in 30 %; and mixed in 5 %. In the second spirometry (n = 19), the pattern was normal in 42.1 %; restrictive in 31.6 %; obstructive in 15.8 %, and mixed in 10.5 %. In the third spirometry (n = 14), the pattern was normal in 50 %; restrictive in 21.4 %; obstructive in 14.3 %, and mixed in 14.3 %.Conclusions. In our sample of patients, a large proportion had respiratory and gastrointestinal comorbidities. Lung function worsened progressively.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Atresia Esofágica/cirurgia , Testes de Função Respiratória , Anormalidades Congênitas , Comorbidade , Epidemiologia Descritiva , Estudos Retrospectivos , Seguimentos , Estudos Longitudinais , Atresia Esofágica/complicações , Atresia Esofágica/epidemiologia
4.
Yonsei Medical Journal ; : 201-209, 2020.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811476

RESUMO

Kinematically aligned total knee arthroplasty (TKA) is a new alignment technique. Kinematic alignment corrects arthritic deformity to the patient's constitutional alignment in order to position the femoral and tibial components, as well as to restore the knee's natural tibial-femoral articular surface, alignment, and natural laxity. Kinematic knee motion moves around a single flexion-extension axis of the distal femur, passing through the center of cylindrically shaped posterior femoral condyles. Since it can be difficult to locate cylindrical axis with conventional instrument, patient-specific instrument (PSI) is used to align the kinematic axes. PSI was recently introduced as a new technology with the goal of improving the accuracy of operative technique, avoiding practical issues related to the complexity of navigation and robotic system, such as the costs and higher number of personnel required. There are several limitations to implement the kinematically aligned TKA with the implant for mechanical alignment. Therefore, it is important to design an implant with the optimal shape for restoring natural knee kinematics that might improve patient-reported satisfaction and function.


Assuntos
Artroplastia do Joelho , Fenômenos Biomecânicos , Anormalidades Congênitas , Fêmur , Joelho
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811266

RESUMO

Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.


Assuntos
Anormalidades Congênitas , Doenças do Tecido Conjuntivo , Assimetria Facial , Humanos , Ortodontia , Cirurgia Ortognática , Osteogênese Imperfeita , Osteogênese , Prognatismo , Irmãos
6.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811202

RESUMO

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a high caries index. However, treating such patients is not an easy task, because of the difficulty in communication. General anesthesia may be a useful option in adult patients with CdCS and intellectual disability. General anesthesia should be administered very carefully, owing to the presence of comorbid diseases, which may need airway management. Infants with CdCS need general anesthesia if they have a concomitant cardiac anomaly. Intubation is reportedly difficult for such patients was, owing to the structural and functional abnormalities in the larynx and vocal cords. The purpose of this study was to report a case of difficult intubation while inducing general anesthesia in a patient with CdCS during dental treatment, due to a narrow larynx and trachea.


Assuntos
Adulto , Manuseio das Vias Aéreas , Anestesia , Anestesia Geral , Braço , Cromossomos Humanos Par 5 , Anormalidades Congênitas , Síndrome do Miado do Gato , Humanos , Lactente , Deficiência Intelectual , Intubação , Laringe , Higiene Bucal , Pacientes Ambulatoriais , Traqueia , Prega Vocal
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811116

RESUMO

BACKGROUND: The aim of this study was to compare the results of the standard once-weekly Ponseti casting technique to an accelerated twice-weekly regimen in our population cohort.METHODS: A prospective randomized controlled study was conducted with a total of 100 consecutive patients (158 feet) being enrolled for the study. Fifty patients were randomized to each group and followed up for at least one year.RESULTS: Initial mean Pirani score was 4.67 ± 0.73 in the standard group and 4.35 ± 0.76 in the accelerated group, and the score decreased to 0.34 ± 0.38 and 0.35 ± 0.31, respectively. Initial mean Dimeglio score was 11.75 ± 2.75 in the standard group and 10.51 ± 2.57 in the accelerated group, and the score decreased to 0.79 ± 0.77 and 0.79 ± 0.71, respectively, immediately after casting. The average number of casts required to correct all the deformities was 6.3 ± 1.2 in the standard group and 6.1 ± 1.4 in the accelerated group (p = 0.45). Average time spent in cast was 58.2 ± 8.3 days in the standard group and 39.5 ± 5.2 days in the accelerated group (p < 0.001). Percutaneous Achilles tendon tenotomy was done in 86.42% in the standard group and in 84.41% in the accelerated group (p = 0.72). Final results were assessed by using a modified functional rating scoring system: 55.55% clubfeet had excellent results and 44.45% had good results in the standard group, whereas 66.23% clubfeet had excellent results and 33.77% had good results in the accelerated group. None amongst the two groups had fair or poor results.CONCLUSIONS: These results suggest that the accelerated Ponseti technique significantly reduces the correction time without affecting the final results and that it is as safe and effective as the traditional Ponseti technique.


Assuntos
Tendão do Calcâneo , Moldes Cirúrgicos , Pé Torto Equinovaro , Estudos de Coortes , Anormalidades Congênitas , Deformidades do Pé , Humanos , Estudos Prospectivos , Tenotomia
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782203

RESUMO

Müllerian anomalies are rare deformities in women, and only a few cases concerning gynecologic malignancies arising in patients with congenital uterine malformations have been reported. Herein, we present the case of a 34-year-old woman with dysgerminoma with a Müllerian anomaly (uterus didelphys). She had secondary amenorrhea, and an ovarian mass and uterus didelphys were discovered during examination. After right salpingo-oophorectomy, the tumor was confirmed as dysgerminoma, and a chromosome study revealed a normal female karyotype (46, XX). The patient completely responded to 6 cycles of chemotherapy. To our knowledge, this is the first reported case of dysgerminoma with uterus didelphys. Although gynecologic malignancies in patients with Müllerian anomalies are very rare, clinicians should be aware of the coexistence of gynecologic malignancies and uterine malformations.


Assuntos
Adulto , Amenorreia , Anormalidades Congênitas , Tratamento Farmacológico , Disgerminoma , Feminino , Humanos , Cariótipo , Útero
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782162

RESUMO

To provide an overview of current approaches to penile reconstructive surgery in Peyronie disease (PD), and to discuss the challenges in restoring normal penile size and function. A systematic literature search was conducted to identify the published literature relevant to PD and penile reconstructive surgery. A summary of the published guidelines from major organisations is included in this review paper. Penile plication is simple and minimally invasive, and tends to preserve potency in most patients. However, plication invariably results in penile length loss and may, in fact, worsen the existing hour-glass or hinge effect. In contrast, graft reconstructive surgery can address issues relating to the loss of penile length and complex penile deformities, but long-term data highlight the risks of altered glans sensation, recurrent curvature, and/or loss of penile length from graft contracture, as well as the development of erectile dysfunction. Complex penile reconstruction with the concurrent placement of a penile prosthesis and/or graft material is a demanding operation that should be performed by surgeons with extensive prosthetic and reconstructive experience, as the risk of sensory loss, glans ischemia/necrosis, prosthesis-related complications, and failure to gain any meaningful length are serious concerns and cannot be underestimated. While surgical approaches remain the standard of care, they pose considerable risks and require prolonged postoperative rehabilitation. Obtaining proper informed consent and establishing realistic outcome expectations are imperative for successful postoperative outcomes.


Assuntos
Anormalidades Congênitas , Contratura , Disfunção Erétil , Humanos , Consentimento Livre e Esclarecido , Masculino , Induração Peniana , Prótese de Pênis , Pênis , Reabilitação , Sensação , Padrão de Cuidado , Cirurgiões , Transplantes
10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782155

RESUMO

PURPOSE: The aim of this study was to evaluate the efficacy of collagenase Clostridium histolyticum (CCH) in patients with Peyronie's disease (PD) suffering from atypical deformities.MATERIALS AND METHODS: We retrospectively collected data of patients with atypical penile curvature (PC) secondary to PD. All patients underwent a modified treatment protocol, consisting of 3 intralesional injections of 0.9 mg of CCH performed at 4-week intervals at the point of maximum PC. Patients were instructed to follow a strict routine, involving daily modeling of erect penis and stretching at the urinary toilette time, two minutes each. Success was defined as a decrease in PC of ≥20° from baseline.RESULTS: Sixty-five patients were included in the analysis. Median age was 59.0 years (interquartile range [IQR], 53.0 to 63.0 years), median curvature 40.0° (IQR, 30.0° to 45.0°) median duration of the disease 12.0 years (IQR, 6.5 to 24.0 years). Fifty-three patients (81.54%) had ventral PC, 7 (10.77%) hourglass PC, and 5 (7.69%) shortening PC. Median changes of PC were −20.0 (IQR, −20.0 to −10.0; p<0.01) in ventral PC, −20.0 (IQR, −20.0 to 0; p<0.01) in hourglass and −15.0 (IQR, −15.0 to −15.0; p<0.01) in shortening PC. At Kruscal–Wallis test, significant differences between groups were not found. The rate of PC success was 56.60% (30/53) in ventral PC, 57.14% (4/7) in hourglass and 20.00% (1/5) in shortening PC (p=0.29). Treatment success was not influenced by characteristics of curvature (odds ratio=0.66; p=0.20).CONCLUSIONS: CCH intralesional injections could represent an effective therapeutic option for the conservative management of patients with atypical PC.


Assuntos
Protocolos Clínicos , Colagenases , Anormalidades Congênitas , Humanos , Injeções Intralesionais , Masculino , Colagenase Microbiana , Induração Peniana , Pênis , Estudos Retrospectivos
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781291

RESUMO

OBJECTIVE@#To assess the application value of chromosomal microarray analysis (CMA) for prenatal diagnosis of fetus with ultrasound abnormalities.@*METHODS@#For 293 fetuses with ultrasound abnormalities (including 168 with structural abnormalities and 125 with non-structured abnormalities) but no common chromosomal abnormalities, CMA assay was performed.@*RESULTS@#Sixteen pathogenic copy number variants (pCNVs) were detected by CMA with a detection rate of 5.46%. The detection rates were 5.95% (10/168) for those with structural abnormalities and 4.80% (6/125) for those with non-structural abnormalities.@*CONCLUSION@#Compared with conventional karyotyping analysis, CMA can improve the detection of fetal chromosomal abnormality and provide an effective means for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Feminino , Feto , Anormalidades Congênitas , Humanos , Análise em Microsséries , Padrões de Referência , Gravidez , Diagnóstico Pré-Natal , Métodos , Ultrassonografia Pré-Natal
12.
MedUNAB ; 23(1): 131-136, 2020/03/30.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1087988

RESUMO

Introducción. El dedo en gatillo es una anomalía infrecuente en niños que afecta principalmente al dedo pulgar, de etiología desconocida. El manejo puede ser conservador o quirúrgico. Reporte de caso. Paciente pediátrica escolar de 4 años y 7 meses de edad es remitida al servicio de cirugía plástica por deformidad en flexión fija del pulgar derecho, de 4 meses de evolución asociada a nódulo palpable. Se interviene quirúrgicamente de forma efectiva, sin complicaciones, secuelas ni recurrencia. Discusión. La paciente fue manejada quirúrgicamente de forma efectiva Se hizo un seguimiento durante 3 años con una evolución satisfactoria, teniendo una recuperación total de la función del pulgar, sin secuelas y adecuada adaptabilidad al medio. Conclusión. Este artículo tiene como objetivo presentar un caso clínico que busca llamar la atención sobre las indicaciones del tratamiento conservador versus quirúrgico que existen en la literatura, corresponde a una paciente pediátrica de nuestro medio con dedo pulgar en gatillo bilateral, su manejo y los resultados postoperatorios. El dedo pulgar en gatillo pediátrico tiene una baja prevalencia en el mundo. No hay estudios de incidencia ni prevalencia en nuestro medio. La edad de presentación es variable, los signos y síntomas no son iguales a los del adulto, el compromiso puede ser bilateral, su diagnóstico es clínico y el tratamiento quirúrgico, dependiendo del grado de compromiso, puede ser el más efectivo. Cómo citar: Bretón Gómez GA, Vargas Rueda JJ, Ardila Forero PA, López Villegas A. Dedo pulgar en gatillo bilateral, tratamiento quirúrgico y conservador en paciente de 4 años de edad. MedUNAB. 2020;23(1):131-136. doi:10.29375/01237047.3616


Introduction. Trigger finger is a rare anomaly in children; it is of unknown etiology and mainly affects the thumb. Management may be conservative or surgical. Case report. Pediatric patient of 4 years and 7 months of age is referred to plastic surgery service for fixed flexion deformity of the right thumb, after 4 months of evolution associated with a palpable nodule. It is successfully intervened surgically, without complications, sequels or recurrence. Discussion. The patient was effectively treated via surgery. Follow-up was carried out for three years with satisfactory evolution, showing full recovery of the function of the thumb, with no after-effects and with adequate adaptability to the environment. Conclusion. The objective of this article is to present a clinical case that aims to draw attention to the indications for conservative versus surgical treatment existing in the literature, corresponding to a pediatric patient from our milieu with a bilateral trigger finger, its treatment and postoperative results. Pediatric trigger finger has low prevalence in the world. There are no incidence or prevalence studies in the cases that were reviewed. The age at which it arises is variable; the signs and symptoms are not the same as those of adults; involvement may be bilateral; diagnosis is clinical and surgery may be the most effective treatment, depending on the degree of involvement. Cómo citar: Bretón Gómez GA, Vargas Rueda JJ, Ardila Forero PA, López Villegas A. Dedo pulgar en gatillo bilateral, tratamiento quirúrgico y conservador en paciente de 4 años de edad. MedUNAB. 2020;23(1):131-136. doi:10.29375/01237047.3616


Introdução. O dedo em gatilho é uma anomalia incomum em crianças, que afeta principalmente o polegar, de etiologia desconhecida. O tratamento pode ser conservador ou cirúrgico. Relato de caso. Paciente pediátrica de quatro anos e sete meses de idade é encaminhada ao serviço de cirurgia plástica para deformidade em flexão fixa do polegar direito, com quatro meses de evolução associada a nódulo palpável. Foi tratada cirurgicamente de forma eficaz, sem complicações, sequelas ou recorrência. Discussão. A paciente foi tratada cirurgicamente de forma eficaz. Foi feito um acompanhamento por três anos com uma evolução satisfatória, com recuperação total da função do polegar, sem sequelas e adaptabilidade adequada ao ambiente. Conclusão. Este artigo tem como objetivo apresentar um caso clínico que busca chamar a atenção para as indicações do tratamento conservador versus cirúrgico, existentes na literatura, que corresponde a uma paciente pediátrica em nosso meio com um polegar de gatilho bilateral, seu manejo e resultados pós-operatórios. O polegar em gatilho pediátrico tem uma baixa prevalência no mundo. Não há estudos de incidência ou prevalência nos casos consultados. A idade de apresentação é variável, os sinais e sintomas não são iguais aos do adulto, o comprometimento pode ser bilateral, o diagnóstico é clínico e o tratamento cirúrgico, dependendo do grau de comprometimento, pode ser o mais eficaz. Cómo citar: Bretón Gómez GA, Vargas Rueda JJ, Ardila Forero PA, López Villegas A. Dedo pulgar en gatillo bilateral, tratamiento quirúrgico y conservador en paciente de 4 años de edad. MedUNAB. 2020;23(1):131-136. doi:10.29375/01237047.3616


Assuntos
Dedo em Gatilho , Complicações Pós-Operatórias , Anormalidades Congênitas , Terapêutica , Recém-Nascido , Tratamento Conservador , Lactente
13.
Rev. MED ; 27(2): 85-92, jul.-dic. 2019. graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1115230

RESUMO

Resumen: La sirenomelia, también conocida como síndrome de la sirena, es una malformación congénita grave, generalmente incompatible con la vida, poco frecuente y de etiología aun no establecida, aunque se sospechan causas heterogéneas, específicamente, de origen vascular, pero que finalmente no han sido totalmente dilucidadas. Reporta una incidencia de 1 por cada 24 000-67 000 nacidos, caracterizada por la fusión de los miembros inferiores y asociada alteraciones en diferentes órganos y sistemas, entre las cuales las malformaciones renales son las más frecuentes. En el presente artículo reportamos el caso de un recién nacido, producto de embarazo gemelar con uno de los fetos que cursa con sirenomelia, sin diagnóstico prenatal, en un hospital de cuarto nivel, en Bogotá, Colombia.


Abstract: Sirenomelia, also known as siren syndrome, is a rare serious congenital malformation, generally incompatible with life, whose etiology has not yet been established. Although heterogeneous causes are suspected, specifically of vascular origin, they have not been fully elucidated. It reports an incidence of 1 per 24,000-67,000 newborns and is characterized by the fusion of the lower limbs and associated alterations in various organs and systems, among which kidney malformations are the most frequent. This article reports the case of a newborn, product of twin pregnancy, who has sirenomelia without a prenatal diagnosis at a fourth-level hospital in Bogotá, Colombia.


Resumo: A sirenomelia, também conhecida como a "síndrome da sereia", é uma malformação congénita grave, geralmente incompatível com a vida, pouco frequente e de etiologia ainda não estabelecida, embora haja supostas causas heterogéneas, em específico, de origem vascular, mas que, finalmente, não são totalmente esclarecidas. Relatam uma incidência de 1 para cada 24 000-67 000 nascidos, caracterizada pela fusão dos membros inferiores e associada a alterações em diferentes órgãos e sistemas, entre as quais as malformações renais são as mais frequentes. Neste artigo, relatamos o caso de um recém-nascido, produto de uma gestação gemelar com um dos fetos que cursa com sirenomelia, sem diagnóstico pré-natal, em um hospital quaternário de Bogotá, Colômbia.


Assuntos
Humanos , Recém-Nascido , Adolescente , Ectromelia , Anormalidades Congênitas , Gravidez de Gêmeos
14.
Rev. colomb. obstet. ginecol ; 70(4): 266-276, oct.-dic. 2019. graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1093049

RESUMO

RESUMEN Objetivo: presentar el caso de una paciente con síndrome de Mayer-Rokitansky-Küster-Hauser, con diagnóstico de carcinoma escamoso en neovagina, y realizar una revisión de la literatura del tratamiento y pronóstico de las neoplasias o la infección por VPH de tejidos neovaginales en mujeres transgénero o con síndrome MRKH. Materiales y métodos: mujer de 56 años de edad que consulta en un hospital universitario regional de la ciudad de Sevilla (España). Tras la exploración clínica se aprecia una tumoración exofítica en fondo de vagina, con resultado de biopsia de carcinoma escamoso y cultivo positivo para virus del papilloma humano (VPH) tipo 16. Se realizó una búsqueda bibliográfica en la base de datos Medline vía PubMed, con los términos: "congenital abnormalities"; "mullerian aplasia"; "neovagina"; "vaginal neoplasms"; "squamous carcinoma"; "HPV infection", de reportes y series de caso, y estudios observacionales publicados desde el año 2000 hasta octubre de 2019 en inglés y español. Resultados: se incluyeron 14 estudios; de estos, siete correspondieron a carcinoma escamocelular, tres a adenocarcinoma y cuatro informan infección solo por VPH. Todos los carcinomas escamocelulares presentaban estadios avanzados por compromiso local o linfático y recibieron radioterapia con quimioterapia concomitante o cirugía radical. El pronóstico fue malo en tres de los casos. Las pacientes con adenocarcinoma también presentaron lesiones avanzadas con compromiso local, el tratamiento fue quirúrgico, con quimioterapia concomitante en dos de los casos. Solo una paciente tuvo seguimiento mayor a cinco años. La infección por VPH es frecuente en mujeres sometidas a construcción de neovagina. Conclusiones: las pacientes con neovagina son susceptibles de desarrollar carcinomas escamosos si se utilizaron injertos cutáneos, o adenocarcinomas en aquellas en las que se reconstruyó la vagina a partir de injertos tisulares intestinales. Dado que al momento del diagnóstico presentan compromiso local, a menudo requieren tratamientos radicales o combinados. Se debe investigar cuáles son las mejores estrategias de tamizaje de VPH, cáncer escamoso y adenocarcinoma en este tipo de pacientes.


ABSTRACT Objective: To present the case of a squamous carcinoma in the neovagina of a patient with Mayer-Rokitansky-Küster-Hauser syndrome and review of the literature related to treatment and prognosis of vaginal neoplasms or HPV infection in transgender women or with MRKH syndrome. Materials and methods: A 56-year-old woman consulted to the Hospital Universitario of Sevilla (Spain). During the clinical examination, a exophytic tumor at the bottom of the vagina was found and the biopsy reported squamous carcinoma and positive nucleic acid amplification test for human papilloma (HPV) type 16. A literature search of case reports, case series and observational studies published from 2000 to October 2019 in English and Spanish was performed in Medline via PubMed, with the following terms: "congenital abnormalities"; "Mullerian aplasia"; "neovagina"; "Vaginal neoplasms"; "Squamous carcinoma"; "HPV infection" was performed. Results: 14 studies were finally included; seven corresponded to squamous cell carcinoma, three to adenocarcinoma and four reported HPV infection only. All of the squamous cell carcinomas were at advanced stages due to local or lymphatic compromise and received radiotherapy with concomitant chemotherapy or radical surgery. The prognosis was bad in three of the cases. Patients with adenocarcinoma also presented with advanced lesions due to local extensión and received surgical treatment and two cases received concomitant chemotherapy. Only one patient was followed-up for five years or more. HPV infection is common in women who underwent neovagina reconstruction. Conclusions: Patients with neovagina are susceptible to develope squamous carcinomas or adenocarcinomas depending if skin or intestinal tissue grafts are used. According to local compromise at the time of diagnosis, radical or combined treatments are required. Which screening strategies for HPV, squamous cell carcinomas and adenocarcinoma is to be investigated.


Assuntos
Humanos , Feminino , Carcinoma de Células Escamosas , Anormalidades Congênitas , Neoplasias Vaginais , Infecções por Papillomavirus
15.
Rev. Bras. Saúde Mater. Infant. (Online) ; 19(4): 947-956, Sept.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1057128

RESUMO

Abstract Objectives: to analyze the trend and the associated factors with the presence of cleft lip and/or cleft palate in Brazilian newborns, in order to verify possible associations with maternal care and newborn factors. Methods: a cross-sectional and ecological study, involving all live births in Brazil, recorded in the Information System on Live Births from 2005 to 2016. Maternal and infant information were evaluated using trend analysis and odds ratio, with a 95% confidence interval. The analyses were performed using SPSS software. Results: we analyzed 17,800 live births with presence of cleft lip and/or cleft palate. The Brazilian prevalence rate was 0.51 / 1000 live births, with South and Southeast Regions registering higher rates than the national rate. There was an association with maternal age above 35 years old, with no partner, less than seven prenatal consultations, premature birth and cesarean section. About the factors of the newborn, being male, Apgar less than seven in the 1st and 5th minutes of life, low birth weight and white color were associated. Conclusions: Brazil has an increasing tendency for cleft lip and/or cleft palate (p=0.019), reinforcing the need to strengthen health care networks, providing adequate support for newborn with cleft lip and/or cleft palate and their families.


Resumo Objetivos: analisar a tendência e os fatores associados à presença de fissura labial e/ou fenda palatina em recém-nascidos brasileiros, a fim de verificar possíveis associações da mesma com fatores maternos, assistenciais e do recém-nascido. Métodos: estudo transversal, ecológico, envolvendo todos os nascimentos vivos do Brasil, registrados no Sistema de Informação sobre Nascidos Vivos de 2005 a 2016. Foram avaliadas informações maternas e infantis, utilizando-se análise de tendência e razão de chances, com intervalo de confiança de 95%. As análises foram realizadas através do software SPSS. Resultados: foram analisados 17.800 nascidos vivos com presença de fissura labial e/ou fenda palatina. A taxa de prevalência brasileira foi de 0,51/1000 nascidos vivos, sendo que as Regiões Sul e Sudeste registraram taxas maiores do que a nacional. Houve associação com idade materna superior a 35 anos, sem companheiro, menos de sete consultas de pré-natal, nascimento prematuro e cesariana. Sobre os fatores do recém-nascido, o sexo masculino, Apgar menor que sete no 1º e 5º minutos de vida, baixo peso ao nascer e raça/cor branca apresentaram associação. Conclusões: o Brasil apresenta tendência crescente das taxas de fissura labial e/ou fenda palatina (p=0,019), reforçando a necessidade de fortalecimento das redes de atenção à saúde, prevendo o amparo adequado aos bebês com fissura labial e/ou fenda palatina e suas famílias.


Assuntos
Humanos , Recém-Nascido , Brasil/epidemiologia , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Nascimento Vivo/epidemiologia , Sistemas de Informação em Saúde/estatística & dados numéricos , Anormalidades Congênitas , Recém-Nascido de Baixo Peso , Cesárea , Estudos Transversais , Idade Materna , Nascimento Prematuro
16.
Rev. Bras. Saúde Mater. Infant. (Online) ; 19(4): 917-924, Sept.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1057129

RESUMO

Abstract Objectives: to describe the prevalence of congenital malformations in live births in Recife, based on the relationship of birth and infant death data. Methods: a cross-sectional study with data from the Live Birth Information System (Sinasc) and Mortality (MIS) of residents in Recife-PE between 2013 and 2015. The deterministic linkage of deaths and live births (LB) with malformation and the prevalence rate were calculated. Results: 545 (95.1%) deaths and live births were matched. According to the Sinasc, the prevalence of congenital malformations was 10.4 per 1,000 LB. After the linkage, the rate was 12.4. Malformations of the musculoskeletal system (42.1%) among live births were high-lighted, as well as malformations of the circulatory system (35.3%) found in infant deaths. Conclusions: linkage increased the prevalence of congenital malformations in the studied cohort. This demonstrates the potential of this strategy for the monitoring of congenital malformations, which can be used to monitor infant death.


Resumo Objetivos: descrever a prevalência das malformações congênitas em nascidos vivos no Recife, com base no relacionamento de dados de nascimentos e óbitos infantis . Métodos: estudo transversal com dados do Sistema de Informações sobre Nascidos Vivos (Sinasc) e Mortalidade (SIM) de residentes no Recife-PE, entre 2013 e 2015. Realizou-se linkage determinístico dos óbitos e nascidos vivos (NV) com malformação e calculou-se a prevalência. Resultados: obteve-se o pareamento de 545 (95,1%) declarações de óbito e de nascidos vivos. Segundo o Sinasc a prevalência de malformações congênitas foi de 10,4 por 1.000 NV; após o linkage a taxa foi de 12,4. Destacaram-se as malformações do aparelho osteomuscular (42,1%) entre os nascidos vivos, e nos óbitos as do aparelho circulatório (35,3%). Conclusões: o linkage aumentou a prevalência de malformações congênitas nas crianças estudadas. Isso indica a potencialidade dessa estratégia para o monitoramento das malformações congênitas, podendo ser empregada na vigilância do óbito infantil.


Assuntos
Humanos , Recém-Nascido , Anormalidades Congênitas/epidemiologia , Mortalidade Infantil , Estatísticas Vitais , Sistemas de Informação em Saúde/estatística & dados numéricos , Atestado de Óbito , Estudos de Coortes , Nascimento Vivo
17.
RECIIS (Online) ; 13(4): 863-876, out.-dez. 2019. ilus, tab
Artigo em Português | LILACS (Américas) | ID: biblio-1047592

RESUMO

Este artigo se baseia em um estudo de série temporal sobre os óbitos fetais por malformações congênitas no estado do Maranhão relativo ao período de 2006 a 2016. Foram construídos indicadores epidemiológicos para estimar o risco de morte fetal e sua tendência ao longo da série estudada. Os dados são provenientes do Departamento de Informática do SUS e sua análise realizada por modelos de regressão linear. Foram registrados 17.843 óbitos fetais no período abordado pelo estudo, 528 dos quais decorrentes de malformações congênitas (2,96%). Observou-se uma tendência significativa de aumento do coeficiente de mortalidade fetal geral, correspondente a 6,99% (ß1=0,17; p=0,004) e do específico por malformações congênitas, equivalente a 5,13% (ß1=0,01; p=0,04). Os resultados deste estudo corroboram a tendência histórica dos serviços de saúde negligenciarem os óbitos fetais. É importante destacar que parte destes óbitos são preveníveis e potencialmente evitáveis. Desse modo, a implementação dos comitês de investigação de óbitos fetais e infantis e a sua vigilância adequada poderiam melhorar a assistência prestada tanto no pré-natal quanto no parto.


This article bases on a time series study about fetal deaths due to congenital malformations in the state of Maranhão, Brazil, occurred from 2006 to 2016. Epidemiological indicators were constructed to estimate the risk of fetal death and its trend throughout the series studied. The data were obtained in the Department of Informatics of SUS and analyzed by linear regression models. There were 17,843 fetal deaths during the analysed period, from which 528 were a direct result of congenital malformations (2.96%). A significant tendency towards an increase in the coefficient of general fetal mortality corresponding to 6.99% (ß1=0.17; p=0.004) and in the coefficient of specific fetal mortality due to congenital malformations equivalent to 5.13% (ß1=0.01; p=0.04) were observed. The end results of this study corroborate the historical trend toward negligence in Brazilian health centres with regard to fetal deaths. It is important to remark that some of these deaths can be presumed and potentially preventable. Thus, the implementation of the fetal and infant death investigation committees and their adequate surveillance could improve care during prenatal and delivery.


Este artículo se basa en un estudio de serie temporal acerca de muertes de fetos por malformaciones congénitas en el estado de Maranhão, Brasil, concerniente al periodo de 2006 a 2016. Se construyeron indicadores epidemiológicos para estimar el riesgo de la muerte fetal y su tendencia a lo largo de la serie estudiada. Los datos son provenientes del Departamento de Informática del SUS y fueron analizados por modelos de regresión lineal. Se registraron 17.843 muertes de fetos en el período estudiado, de los cuales 528 fueron resultado de malformaciones congénitas (2,96%). Se observó una tendencia significativa al aumento del coeficiente de mortalidad fetal general correspondiente a 6.99% (ß1=0,17; p=0,004) y del específico, por malformaciones congénitas, equivalente a 5,13% (ß1=0,01; p=0,04). Los resultados del estudio corroboran la tendencia histórica a la negligencia de los centros de salud brasileños con respecto a las muertes de los fetos. Por su importancia debemos destacar que parte de esas muertes son presumibles y pueden ser evitadas. De ese modo, la implementación de los comités de investigación de muertes de fetos y infantiles y su vigilancia adecuada podrían mejorar la asistencia prestada en el prenatal y en el parto.


Assuntos
Humanos , Anormalidades Congênitas/mortalidade , Mortalidade Fetal/tendências , Morte Fetal/etiologia , Cuidado Pré-Natal , Modelos Lineares , Estudos Retrospectivos , Estudos Ecológicos , Morte Fetal/prevenção & controle
18.
Arq. bras. med. vet. zootec. (Online) ; 71(6): 1861-1864, Nov.-Dec. 2019. ilus
Artigo em Inglês | LILACS (Américas), VETINDEX | ID: biblio-1055141

RESUMO

Computed tomography of the head of an otter with a history of incoordination, visual deficits, and seizures was performed. Intracranial images revealed a large non-enhancing fluid attenuating cystic lesion in the left frontoparietal region communicating with the left lateral ventricle and subarachnoid space. These findings are consistent with a congenital brain cavity filled by cerebrospinal fluid, with porencephaly being the most probable diagnosis based on the clinical and tomographic findings. The authors highlight the rarity of such a cystic lesion in wild animals, with this being the first report in otters.(AU)


Realizou-se o exame tomográfico do crânio de uma lontra com histórico de incoordenação, déficit visual e convulsões. Imagens intracranianas revelaram grande lesão cística não captante de contraste em região frontoparietal esquerda, apresentando comunicação com o ventrículo lateral esquerdo e espaço subaracnoidea. Esses achados foram consistentes com cavitação cerebral congênita preenchida por fluido cerebroespinhal, sendo porencefalia o diagnóstico de maior probabilidade com base nos achados clínicos e tomográficos. Destaca-se a raridade dessa condição em animais silvestres, sendo este o primeiro relato em lontras.(AU)


Assuntos
Animais , Lontras/líquido cefalorraquidiano , Cavidades Cranianas , Porencefalia/veterinária , Anormalidades Congênitas/veterinária , Tomografia Computadorizada por Raios X/veterinária , Sistema Nervoso Central
20.
J. Health Biol. Sci. (Online) ; 7(4): 432-435, 30/09/2019.
Artigo em Português | LILACS (Américas) | ID: biblio-1023541

RESUMO

Relato de caso: apresentamos um caso de diagnóstico ecográfico pré-natal de ictiose de Arlequim, que evoluiu com óbito intrauterino. Conclusão: esse distúrbio caracteriza-se por um neonato envolto por uma membrana espessa de material córneo com fissuras generalizadas, comprometendo as funções básicas da pele e predispondo o recém-nascido a infecções e a alterações metabólicas. Com prognóstico desfavorável, o diagnóstico precoce e o tratamento de suporte visam aumentar a sobrevida e melhorar a qualidade de vida ao neonato.


Case report: we present a case of prenatal ultrasound diagnosis of ichthyosis of Harlequin, which evolved with intrauterine decease. Conclusion: this disorder is characterized by a neonate wrapped in a thick membrane off horny material with generalized fissures that compromise the basic functions of the skin, predisposing the newborn to infections and metabolic alterations. With a reserved prognosis, early diagnosis and supportive care aim to increase survival and improve the quality of life of the newborn.


Assuntos
Ictiose , Anormalidades da Pele , Anormalidades Congênitas
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