Association between a Maternal History of Miscarriages and Birth Defects.

BACKGROUND: Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed. METHODS: The study relied on the Latin American Collaborative Study on Congenital Malformations (ECLAMC) database registries including 26,906 live and stillborn infants with one of 19 selected isolated BDs and 93,853 normal controls. Infants born to primigravid mothers were excluded from the present study. Demographic and reproductive variables were compared between control mothers With and Without previous miscarriages. The number, frequency, and distribution of miscarriages were observed for each BD and controls. A conditional logistic regression was applied to evaluate the miscarriage risk for each BD. RESULTS: Control mothers with previous miscarriages were older, had had more pregnancies, and were less educated. Three risk patterns of miscarriages were observed: a very high risk of miscarriages associated with gastroschisis, omphalocele, and talipes; only one miscarriage associated with spina bifida, and two or more miscarriages associated with hypospadias. CONCLUSION: These three patterns suggest that different factors underly each BD/miscarriage association: infertility for hypospadias, vascular disruption for gastroschisis and talipes, while for spina bifida, the much debated trophoblastic cell residue theory could not be discarded. Birth Defects Research 109:254-261, 2017. © 2017 Wiley Periodicals, Inc.

Tratamiento del pie bot idiopático luego de la edad de la marcha: revisión sistemática de la bibliografía / Treatment of the idiopathic clubfoot after the walking age: a systematic bibliographic review

Introducción: La eficacia obtenida con el método de Ponseti en pacientes recién nacidos ha llevado a extender las indicaciones a pacientes de mayor edad. Llevamos a cabo una revisión sistemática de la bibliografía para: 1) definir el grado de comprobación científica con respecto al tratamiento del pie bot con el método de Ponseti en niños >1 año, 2) determinar el número de yesos y procedimientos asociados, 3) determinar el porcentaje de corrección y 4) identificar la tasa de complicaciones. Materiales y Métodos: Utilizando las bases de datos informáticas disponibles en Ovid, PubMed, LILACS y Cochrane Library, se recogieron todos los trabajos sobre pacientes >1 año, con tratamiento de pie bot idiopático mediante el método de Ponseti, publicados hasta el 1 de mayo de 2014. Se revisaron aquellos que cumplieran con criterios de inclusión y exclusión prestablecidos. Resultados: La muestra analizada incluyó 11 estudios con 492 pacientes. La edad promedio al iniciar el tratamiento fue de 3.8 años (rango 1-18). El seguimiento promedio fue de 31 meses. Se realizaron un número promedio de 8 yesos (rango 4-12). Se consiguió un pie plantígrado en el 75% de los casos. La tasa de complicaciones fue del 4,3%. Conclusiones: La evidencia actual en niños >1 año tratados con el método de Ponseti es de nivel IV. Si bien el uso de esta técnica requiere de un mayor número de yesos y procedimientos asociados que en el recién nacido, permite corregir la deformidad, de forma segura, en un alto porcentaje de los casos. Nivel de Evidencia: IV

Introduction: Ponseti´s method efficacy in newborns has led to widen the indications in older patients. A systematic review of the literature was performed to: 1) define the degree of scientific evidence on Ponseti´s method in children over one-year-old with clubfoot; 2) assess the number of casts and associated procedures required to accomplish full correction; 3) determine the percentage of full corrected patients; and 4) identify the rate of recurrence and complications related to this method. Methods: We retrieved from Ovid, PubMed, LILACS and Cochrane Library articles referred to Ponseti´s method in children over one-year-old published until May 1st 2014. Papers that met predetermined inclusion and exclusion criteria were reviewed. Results: Eleven papers met the inclusion criteria. The sample consisted in 492 patients. Average age at the beginning of treatment was 3.8 years (range 1-18). Average follow-up was 31 months. A mean of 8 (range 4-12) casts was required to accomplish full correction. Plantigrade feet were achieved in 75%. Complication rate was 4.3%. Conclusions: Current evidence regarding Ponseti’s method for patients over one-year-old is primarily Level IV. Even though this technique requires higher number of casts and associated procedures, deformity correction is safely achieved in most patients. Level of Evidence: IV

Marcha en equino idiopática infantil: revisión sistemática / Idiophatic toe walkers: sistematic review

La marcha en equino idiopática infantil se caracteriza por el apoyo único de la zona de antepié durante la marcha. Se trata de una patología desarrollada a partir de los 2 años de edad en niños sin ningún tipo de alteración neurológica u ortopédica. Esta revisión consiste en la comparación de estudios que incluyen diferentes tipos de tratamiento mediante yesos seriados, terapia física, toxina botulínica tipo- A o quirúrgicos; con el fin de esclarecer cuál de ellos ofrece mayor efectividad. Se realizaron búsquedas de artículos científicos sobre la marcha en equino idiopática infantil y sobre su tratamiento en las bases de datos Medline, CINAHL, Pubmed, Web of Science y Cochrane Library. Se seleccionaron dos revisiones sistemáticas que cumplían con los criterios de inclusión. Analizando los resultados obtenidos con cada tipo de tratamiento se concluye que no existe uno con mayor efectividad que otro, debido a la imposibilidad de encontrar diferencias significativas entre ellos. Aunque la normalización de la marcha no se produjo en la mayoría de los casos, la cinética y la cinemática de la marcha mejoraron en todos los grupos de tratamiento. También se observó un aumento en el rango de flexión dorsal de tobillo, pero sólo se conservaría a largo plazo en aquellos grupos de pacientes tratados quirúrgicamente. El número de complicaciones que se presentan después del tratamiento conservador y del quirúrgico fue mínimo. En conclusión, no se puede determinar qué tratamiento proporciona mayor efectividad haciendo necesario promover la realización de más estudios (AU)

The idiopathic toe walking march is characterized by the sole support of the forefoot area during the march. It is a disease developed in children from 2 years-age without any neurological or orthopedic impairment. This revision consists in the comparison of multiple studies including different treatments, such as serial casting, physical therapy, botulinum toxin type A or surgical solutions. The aim is to clarify which of the treatments would be most efficient. The study performed searches of scientific articles on the march in infantile idiopathic toe walking and its treatment in Medline, CINAHL, PubMed, Web of Science and Cochrane Library data base. Two systematic reviews that met the inclusion criteria were selected. After having analysed all results of the different treatments the conclusion is, that there is no difference in effectiveness between them, mainly due to no important difference of treatment. Although there has been no major improvement walking in any of the treatment, the kinetics and the kinematic has improved with all treatments. An increase in the ankle dorsiflexion range of motion was also observed, but only it will be longterm retained in those groups of surgically treated patients. The number of complications that arise after conservative treatment and surgical was minimal. In conclusion we cannot determine which treatment provides more effectiveness promoting the necessity of further studies (AU)

Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases.

BACKGROUND: We reviewed a series of newborns, toddlers and ambulating children affected by idiopathic congenital talipes equinovarus (clubfoot). Taking into account the time of diagnosis, stiffness of the deformity and walking age, nonsurgical or surgical treatment was considered. This study reports clinical outcomes, early complications and relapse at mid-term follow-up. MATERIALS AND METHODS: Fifty-two clubfeet were diagnosed at birth, 12 in non-ambulating children aged between 4 and 12 months and 24 in ambulating children. Feet were classified using the Pirani score. Newborns and toddlers were treated with serial casting (Ponseti); however, toddlers also underwent open Achilles tendon lengthening (2 feet) and posteromedial release (3 feet). In all ambulating children, surgical treatment was always performed: selective medial release combined with cuboid subtraction osteotomy (1 foot), posteromedial release (6 feet), and posteromedial release combined with cuboid subtraction osteotomy (17 feet). RESULTS: The average follow-up was 5 years (1-6 years). In newborns treated with Ponseti, the results were excellent in 42 feet, good in 6, and poor in 4. In non-ambulating children, the results were excellent in 9 feet, and good in 3. In ambulating children, the results were excellent in 5 feet, good in 16, and poor in 3. No major complications were reported. No overcorrections were observed. The need for open surgery was higher in cases of delayed treatment. In cases of relapse, re-casting and/or more extensive surgery was considered. CONCLUSIONS: Early treatment enables a high rate of good correction to be obtained with serial casting and limited surgery. Conversely, if the deformity is observed after walking age surgery should be considered. Serial casting in cases of late observation and relapse have demonstrated encouraging results. LEVEL OF EVIDENCE: IV.

Pie en espejo / Mirror foot

Paciente masculino de 79 años de edad, el cual presenta en el miembro inferior izquierdo a nivel del pie una malformación congénita que corresponde a un pie en espejo, representado por 9 artejos, articulados en 8 metatarsianos, pie zambo, seudoartrosis alta de la tibia y luxación congénita alta del peroné. Es inusual encontrar esta deformidad en el momento actual(AU)

Here is a 79 years-old patient who had in his left foot a congenital malformation called mirror foot, which is represented by 9 knuckles articulated in 8 metatarsals, knock-kneed foot, upper pseudoarthrosis of the shinbone and upper congenital luxation of the fibula. The presentation of this type of deformity is unusual today(AU)

Nota clínica. Complicaciones del método Ponseti: Edema de miembro por efecto ventana / Complication of Ponseti’s method: Edema member for windows effect

El pie equinovaro es la deformidad congénita más frecuente, afectando a 1 de cada 1000 recién nacidos vivos. El método más aceptado para su tratamiento es el método Ponseti, que consiste en la utilización de yesos seriados, encaminados a corregir las deformidades asociadas a dicha deformidad. Varias son las complicaciones que pueden aparecer durante el enyesado seriado, aunque la mayoría son banales. En nuestro centro hemos diagnosticado 5 casos de edema de miembro por efecto ventana asociado a este tratamiento. En todos los casos, esta complicación ha aparecido tras retirar el yeso post-tenotomía, previo a la colocación de la férula de abducción. Asociamos esta complicación con la rigidez de las vendas de algodón utilizadas, lo que nos ha llevado a cambiarlas por otras sin trenzado, mucho más distensibles. Actualmente no ha aparecido ningún nuevo caso

The clubfoot is the most common birth defect, affecting 1 in 1000 live births. The most accepted method for treatment is the Ponseti method which consists of serial casting, which corrects all the deformities associated with this deformity. There are several complications that can arise during serial casting, although most are banal. In our center we have diagnosed 5 cases of edema member for windows effect with this treatment. In all cases, this complication has appeared after removal of the post-tenotomy cast, prior to using the abduction brace. We associate this complication with the rigidity of the cotton bandages used, which has led us to change them for other without mesh, much more distensible. Currently, no new caseshave appeared

Pie en espejo / Mirror foot

Paciente masculino de 79 años de edad, el cual presenta en el miembro inferior izquierdo a nivel del pie una malformación congénita que corresponde a un pie en espejo, representado por 9 artejos, articulados en 8 metatarsianos, pie zambo, seudoartrosis alta de la tibia y luxación congénita alta del peroné. Es inusual encontrar esta deformidad en el momento actual.

Here is a 79 years-old patient who had in his left foot a congenital malformation called mirror foot, which is represented by 9 knuckles articulated in 8 metatarsals, knock-kneed foot, upper pseudoarthrosis of the shinbone and upper congenital luxation of the fibula. The presentation of this type of deformity is unusual today.

Morphometric changes in talus of club foot A gross observation in human foetuses / Cambios morfométricos en talus del pie zambo, una observación macroscópica en fetos humanos

Both the feet of six human foetuses of different age groups having unilateral club feet, were dissected for morphological study. Six morphometric parameters considered for comparing gross anatomical changes in normal and deformed feet, were 1-Maximum length of the talus, 2-Longitudinal dimension of head of talus, 3-Anterior trochlear breadth, 4-Maximum medial talar height, 5-Talar neck and calcaneal angle, 6-Talocalcaneal angle. All the foetuses with congenital club feet have almost similar deformity of foot skeleton. The gross anomalies observed were the smaller size of club foot talus and increased medial and planter deviation of a stunted, misshapen head and neck region. A medial plantar subluxation of the navicular bone with a consequent deformity of the articular facets of the talar head was also observed. Uniformity and consistency of anatomical abnormalities were striking features in present study.

Para su estudio morfológico fueron disecados ambos pies de seis fetos humanos de distintas edades, uno de los pies era zambo. Seis parámetros morfométricos fueron considerados para la comparación de graves alteraciones anatómicas en los pies normales y deformes; estos fueron: 1. Longitud máxima del talus, 2. Dimensión longitudinal de la cabeza del talus, 3. Ancho troclear anterior, 4. Altura medial máxima del talus, 5. Cuello talar y ángulo calcáneo, 6. Ángulo talocalcáneo. Todos los fetos con pie zambo congénito tienen una deformidad similar del esqueleto del pie. Las anomalías graves observadas fueron el menor tamaño del talus del pie zambo, aumento de la desviación media y retraso en el crecimiento plantar, deformación de la cabeza y región del cuello talar. También se observó una subluxación medial plantar del hueso navicular, con un consecuente deformidad de las facetas articulares de la cabeza del talus. La uniformidad y consistencia de las anomalías anatómicas fueron los rasgos más llamativos en este estudio.

Pé torto congênito / Congenital Clubfoot

Embora o pé torto congênito seja uma das deformidades congênitas mais comuns dos membros inferiores, ainda há controvérsias com relação à etiologia e ao tratamento. Apesar da frequência relativamente alta, o tratamento é desafiador, pois objetiva a obter um pé funcional, flexível, plantígrado e indolor, com resultados permanentes. O método de Ponseti destaca-se por propiciar resultados mais satisfatórios e diminuir a necessidade de cirurgias. Entretanto, o tratamento cirúrgico deve ser indicado após falha do tratamento conservador adequadamente realizado. A tendência atual consiste em evitar as extensas liberações cirúrgicas e, quando houver necessidade de cirurgia, preconizam-se correções localizadas, também conhecidas por liberações "à la carte". A perspectiva futura fundamenta-se em conhecer resultados de tratamento a longo prazo e novos conhecimentos sobre a etiologia do pé torto congênito, especialmente do ponto de vista genético, que poderão, eventualmente, auxiliar na determinação do prognóstico e até no tratamento. Nível de Evidência: Nível II, revisão sistemática.

The clubfoot is one of the most common congenital deformities affecting the lower limbs, it still presents controversial aspects regarding etiology and treatment. In spite of its relatively high frequency, the treatment is still challenging, since the long-term aim is achieving an everlasting flexible, plantigrade, pain-free and totally functional foot. The Ponseti method has gained attention and popularity because of its satisfactory results and surgery avoidance. Presently, surgical treatment is indicated only after failure of conservative methods, avoiding extensive soft-tissue release, but performing localized corrections of the deformities, a technique also know as "a la carte" release. The future perspective is based on the knowledge about long-term results and new understanding of the clubfoot etiology, especially in the genetic field, which may eventually be helpful for prognostic and treatment. Level of Evidence: Level II, systematic review.

Diagnóstico ecográfico de pies zambos / Ultrasonographic diagnosis of clubfeet

Introducción. Estudiar la sensibilidad, el valor predictivopositivo y la tasa de falsos negativos de la ecografía de segundotrimestre para el diagnóstico de pies zambos, ademásde conocer las alteraciones asociadas a esta anomalía.Métodos. Estudio retrospectivo de 52 recién nacidoscon pies zambos en el Hospital Parc Taulí de Sabadell entre2000-2007. Se seleccionaron los casos de la base de datos dela Unidad de Diagnóstico Prenatal. Se revisaron las historiasclínicas y los informes de exploraciones complementarias.Resultados. La sensibilidad, el valor predictivo positivo yla tasa de falsos negativos de la ecografía fueron 76,9, 93 y23,1 %, respectivamente. Se observaron malformacionesasociadas en el 32,7 % de los casos.Discusión. Junto con la ecografía, las exploracionescomplementarias (resonancia magnética y ecocardiografíafetales) nos han permitido el diagnóstico prenatal de malformacionesasociadas a los pies zambos. Consideramos convenientela práctica del cariotipo fetal en casos de piezambo, ya sea unilateral o bilateral(AU)

Introduction. To study sensitivity, the positive predictivevalue and false negative rate from the second trimesterultrasound scan to diagnose club feet, besides toknow alterations associated to this anomaly.Methods. Retrospective study of 52 newborn withclub feet in Parc Taulí Hospital between 2000-2007. Thecases were selected of the database of the Unit PrenatalDiagnosis. Results. The sensitivity, the positive predictive valueand the false negative rate were 76.9%, 93% and 23.1%respectively. Malformations associated were observed in32.7% of the cases.Discussion. Along with the ultrasound scan, thecomplementary tests (fetal magnetic resonance and heartultrasound) have allowed the prenatal diagnosis of malformationsassociated to clubfeet. We recommend thepractice of karyotype fetal in both cases, unilateral andbilateral clubfoot(AU)

Pseudoapêndice caudal associado a pé torto congênito: relato de caso / Caudal pseudo tail associated with congenital clubfoot: case report

O apêndice caudal é uma rara anomalia congênita, localizada na região lombossacral. Classifica-se, segundo Dao e Netsky, em pseudoapêndice e apêndice caudal verdadeiro,com implicações prognósticas e terapêuticas.O apêndice caudal pode estar associado a outras anormalidades congênitas, sendo necessários exame físico detalhado e exames de imagem para diagnóstico e tratamento precoce das doenças concomitantes. Os autores relatam um caso de pseudoapêncice caudal lombossacro (fibrolipoma congênito), associado a pé torto congênito, em uma criança submetida a tratamento cirúrgico excisional do pseudoapêndice. Fez-se revisão da literatura sobre casos semelhantes e não foi encontrada descrição da associação com pé torto congênito.

Protocolo clínico e radiográfico para avaliaçäo de pacientes portadores de pé eqüinovaro congênito, após tratamento conservador / Clinical and roentgenographic protocol for patients with clubfoot treated non-operatively

Os autores avaliaram 32 pacientes, portadores de 50 pés tortos congênitos segundo a avaliaçäo clínica de Pirani (1995) e o estudo radiológico de Simons (1977,1978) e Thometz (1993). Os sinais clínicos de Pirani, os ângulos de Kite e talo-primeiro metatarsiano em ântero-posterior (AP) e perfil e o alinhamento da articulaçäo calcâneo-cubóide em AP säo analisados quanto a sua praticidade e a correlaçäo da intensidade de cada sinal presente no pé torto congênito com a correçäo de cada deformidade. A avaliaçäo clínica de Pirani e o estudo radiográfico de Simons, de forma associada, demonstraram-se efetivos para individualizar a necessidade ou näo de cirurgia para cada pé torto congênito examinado. Visa-se, com isso, padronizar a indicaçäo cirúrgica segundo os sinais clínicos e radiológicos presentes em cada pé e, a partir disso, tentar-se prognosticar e comparar os resultados que seräo encontrados na avaliaçäo pós-operatória

Músculo solear acessório: aspectos clínicos e achados cirúrgicos / Acessory soleus muscle: clinical aspects and surgical findings

Os autores relatam 21 pés em que o músculo solear acessório estava presente e participava da deformidade. Os pacientes eram portadores de pés eqüinovaros adutos congênitos ou apresentavam deformidade em eqüino fixo. A incidência de músculo solear acessório no pé torto congênito näo diferiu dos índices da populaçäo normal. O tratamento realizado consistiu da ressecçäo total ou da desinserçäo, o que foi necessário para a correçäo completa da deformidade. O exame radiográfico näo auxiliou o diagnóstico e a ressonância nuclear magnética foi útil na identificaçäo, no planejamento cirúrgico e na exclusäo diagnóstica, quando suspeitada clinicamente.

Importância da biópsia muscular em ortopedia / Importance of muscular biopsy in orthopedics

O valor da biópsia muscular no diagnóstico diferencial das doenças neuromusculares aumentou sobremaneira nas duas últimas décadas, principalmente após a adoçäo de novas metodologias e técnicas histoquímicas de coloraçäo. Ressaltamos a importância desse exame no diagnóstico de certas patologias. Descrevendo suas principais características histológicas, säo apresentados os substratos anatomopatológicos das seguintes entidades: artrogripose múltipla congênita, pé torto equinovaro, miosite ossificante progressiva de Münchmeyer, miopatias congênitas associadas a deformidades esqueléticas e/ou retraçöes musculotendíneas, torcicolo muscular congênito, fibromialgia, plaurodinia epidêmica, fibrose do quadríceps, glútea e deltóidea