Tratamiento del pie zambo congénito a lo largo de la historia / Congenital clubfoot treatment throughout history

El tratamiento del pie zambo congénito ha evolucionado a lo largo de la historia. Desde la Antigüedad hasta finales de la Edad Media se utilizaron las manipulaciones e inmovilizaciones seriadas. Del Renacimiento al siglo XVII se crearon las primeras ortesis. En el siglo XVIII comenzó el uso de moldes de yeso y se desarrollaron ortesis y calzados complejos. El período del siglo XIX hasta la tercera década del XX, se caracterizó por la práctica de las tenotomías, siendo la cirugía el principal enfoque terapéutico. En el siglo XX, Joseph Kite e Ignacio Ponseti describieron su eficaz método no quirúrgico, lo que produjo el regreso a las manipulaciones e inmovilizaciones seriadas frente a la cirugía agresiva. Cuando se revisa la historia del tratamiento del pie zambo, sorprende ver que los médicos tratantes cometían los mismos errores una y otra vez, porque ignoraban constantemente lo que ya habían aprendido de sus antecesores y, en su lugar, a menudo se veían confundidos por las nuevas informaciones o tendencias. En el siglo XXI, los avances en biología celular, genética molecular, diagnóstico por la imagen, biomecánica y biomateriales hacen prever que se puedan diseñar tratamientos personalizados para los pacientes con pie zambo(AU)

Congenital clubfoot treatment has evolved throughout history. Serial manipulations and immobilizations were used from antiquity to the end of the Middle Ages. From the Renaissance to the 17th century the first orthotics were created. In the 18th century, the use of plaster casts began and complex orthotics and footwear developed. The period from 19th century until the third decade of the 20th century was characterized by the practice of tenotomies, with surgery being the main therapeutic approach. In the 20th century, Joseph Kite and Ignacio Ponseti described their effective non-surgical method, which led to the return to serial manipulations and immobilizations in the face of aggressive surgery. When reviewing the history of clubfoot treatment, it is surprising to see that the treating doctors made the same mistakes over and over again because they constantly ignored what they had already learned from their predecessors and, instead, were often confused by the new ones information or trends. In the 21st century, advances in cell biology, molecular genetics, diagnostic imaging, biomechanics and biomaterials suggest that personalized treatments can be designed for patients with clubfoot(AU)

Developmental anomalies and South American paleopathology: A comparison of block vertebrae and co-occurring axial anomalies among three skeletal samples from the El Brujo archaeological complex of northern coastal Peru.

Though developmental anomalies have been noted for over a century in South American paleopathology, they have received less attention than other pathological conditions. When anomalies are reported, they tend to be unusual case studies or incidental findings. Paleopathological research should also consider anomalies from a population perspective, to broaden our understanding about the frequency of specific anomalies, and potentially offer insight into genetic relationships, cultural behavior, or environmental factors. This investigation compared block vertebrae and co-occurring postcranial axial anomalies among three skeletal samples reflecting an occupational sequence at the El Brujo Archaeological Complex of Peru. Block vertebrae demonstrate both considerable antiquity and persistence through time, though frequencies, vertebral level, and co-occurring anomalies varied by sex and cultural period. Among the Late Preceramic sample, the frequency of C2-C3 block vertebrae was highest and only seen among females, which may suggest familial influence, genetic isolation, and potentially matrilocality. The Moche sample demonstrated a moderate frequency of blocks, which in combination with the frequencies of other developmental anomalies, may suggest population continuity paired with an influx of new genes, demographic expansion, and possible cultural change with regard to postmarital residence. The Lambayeque sample demonstrated the lowest frequency of blocks and the highest frequency and greatest diversity of anomalies, which may suggest genetic continuity from the Moche, an expanded gene pool, broader opportunities for mate choice, and cultural change. It is hoped that this investigation will provide data for future comparisons and call attention to the need for the broader study of developmental anomalies in South America.

Malformations congénitales oro-cervico-faciales au service d'odonto-stomatologie et chirurgie maxillo-faciale de l'hôpital national Donka

Les malformations congénitales cervico-oro-faciales sont des défauts structurels, fonctionnels, comportementaux et métaboliques qui se développent au cours de la période d'organogenèse de la sphère cervico-oro-faciale affectant la qualité de vie des patients. Le but de ce travail était de contribuer à l'étude des malformations congénitales cervico-oro-faciales. Il s'agit d'une étude descriptive menée dans le service d'odontostomatologie et de chirurgie maxillo­faciale de hôpital national Donka sur une période d'un mois incluant tous les patients présentant une malformation congénitale oro-cervico-faciale ayant fait l'objet d'un diagnostic, un traitement et un suivi post-thérapeutique. 28 cas de malformations congénitales cervico-oro-faciales ont été colligés soit une fréquence de 35,44 %. Les patients dont l'âge se situe entre 0 et 10 ans ont été les plus nombreux. Lesexratio était de 1,15 en faveur du sexe masculin. Conakry a été le plus grand pourvoyeur de patients avec un taux de 78,58 %. Et 25 % des patients avaient tenté auparavant un traitement ailleurs avant d'avoir consulté notre service. Les fentes labiales ont été les plus nombreuses soit 25 %. Dans notre série la plastie dont la Z-Plastie a été l'acte le plus réalisé. La totalité de nos patients ont été soumis à un traitement antalgique pendant les heures et jours qui ont suivi l'intervention. 98,70 % des cas ont été soumis à une antibiothérapie. La suite opératoire a été favorable dans 92,86 % des cas. Les malformations congénitales cervico-oro-faciales sont fréquentes, diverses et variées. Le diagnostic post-natal est aisé et précoce. Les fentes labiales ont représenté la forme nosologique la plus fréquente. Seule la chirurgie a été réalisée chez tous nos patients

[Retrospect and prospect of the genetic research on birth defects in China].

An important part of China's "Healthy China 2030" planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.

Trends in congenital anomalies in Europe from 1980 to 2012.

BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. CONCLUSIONS: The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.

Fusion of cervical vertebrae from a basal archosauromorph from the Middle Triassic Denwa Formation, Satpura Gondwana Basin, India.

This report describes two adjacent, longitudinally-fused anterior cervical vertebrae from a basal archosauromorph. The specimen was collected from the Denwa Formation, Satpura Gondwana Basin, India. The differential diagnosis of the fusion includes genetic or environmentally-mediated congenital malformations, nonspecific spondyloarthopathy, and various infectious agents. These observations represent the first published recognition of archosauromorph vertebral pathology from specimens that were discovered in India. The observations affirm that basal archosauromorphs suffered from disorders that have been observed in later dinosaurs and modern-day vertebrates. Considering the process of orderly differential diagnosis is an important aspect of understanding lesions of ancient bones.

Anomalias congênitas e suas principais causas evitáveis: uma revisão / Congenital anomalies and its main avoidable causes: a review

As anomalias congênitas (AC) podem ser definidas como todas as alterações funcionais ou estruturais do desenvolvimento fetal, cuja origem ocorre antes do nascimento. Elas possuem causas genéticas, ambientais ou desconhecidas. As principais causas das anomalias são os transtornos congênitos e perinatais, muitas vezes associados a agentes infecciosos deletérios à organogênese fetal, tais como os vírus da rubéola, da imunodeficiência humana (HIV), o vírus Zika, o citomegalovírus; o Treponema pallidum e o Toxoplasma gondii. O uso de drogas lícitas e ilícitas, de medicações teratogênicas, endocrinopatias maternas também podem ser citados como causa de AC. Estima-se que 15 a 25% ocorram devido às alterações genéticas, 8 a 12% são causadas por fatores ambientais e 20 a 25% podem ser causadas tanto por alterações genéticas quanto por fatores ambientais. Neste artigo, serão abordadas as principais causas das AC, com foco naquelas que podem ser evitadas. (AU)

Congenital anomalies (CA) can be defined as all functional or structural changes of fetal development that originate before birth. They have genetic, environmental or unknown causes. The main causes of anomalies are congenital and perinatal disorders, often associated with infectious agents deleterious to fetal organogenesis, such as rubella virus, human immunodeficiency virus (HIV), Zika virus, cytomegalovirus; the Treponema pallidum and the Toxoplasma gondii. The use of licit and illicit drugs, teratogenic medications, and maternal endocrinopathies can also be cited as causes of CA. It is estimated that 15 to 25% occur due to genetic alterations, 8 to 12% are caused by environmental factors and 20 to 25% can be caused by both genetic and environmental changes. In this article, the main causes of CA will be addressed, focusing on those that can be avoided. (AU)

[The advent of a newborn specialty: 19th century pediatrics]. / Naissance de la pédiatrie au 19e siècle.

Pediatrics began under the most unfavorable conditions that are difficult to imagine nowadays. Children at the start of the 19th century were considered as negligible. The death rate was tremendous, increased by the work of children in factories as soon as 6 years of age in textile industries. In upper classes, infants were fed by a wet nurse, far from their parents and death rate was high as well. The emergence of pediatrics was the result of work carried out in adult medicine in the first half of the 19th century: clinical anatomic method, knowledge of contagious diseases even before the discovery of bacteria, birth of bacteriology. During the whole century, infectious diseases contributed in a large part to children mortality, as that of adults, by cholera, typhus, variola, diphtheria, measles and tuberculosis. Progresses noted during the 2nd part of the century resulted from beginning of hygiene, antisepsis, nutrition improvement, taking consideration of children as human being asking for protection. In contrast, therapeutics as serotherapy, vaccinations at the break of the 20th century played a secondary role.

Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.

The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical collection of the world-famous 17th century Dutch anatomist Frederik Ruysch. This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a modest number of which concerns specimens with congenital anomalies. We searched for teratological clues in the existing collection and in all his descriptions and correspondence regarding specimens and cases he encountered during his career as doctor anatomiae and chief instructor of the surgeons and midwives in Amsterdam. A total of 63 teratological specimens and case descriptions were identified in this legacy, including some exceedingly rare anomalies. As it turns out, Ruysch was the first to describe several of the conditions we encountered, including intracranial teratoma, enchondromatosis, and Majewski syndrome. Although his comments pose an interesting view on how congenital anomalies were scientifically perceived in early 18th century Europe, Ruysch mostly refrained from explaining the causes of the conditions he encountered. Instead, he dedicated himself to careful descriptions of his specimens. Almost 300 years after his demise, Ruysch's legacy still impresses and inspires both scientists and lay men. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.