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BACKGROUND: Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500-2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations. OBJECTIVES: To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors. METHODS: The study consisted of a case-control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10-1433 m) and moderate altitudes (1511-2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation. RESULTS: Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes. CONCLUSIONS: Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.
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Altitude , Anormalidades Congênitas , Humanos , Estudos de Casos e Controles , Fatores de Risco , Feminino , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Prevalência , Masculino , Recém-Nascido , Adulto , Gravidez , México/epidemiologia , Sistema de Registros , Idade MaternaRESUMO
BACKGROUND: Testicular descent is a physiological process regulated by many factors. Eventually, disturbances in the embryological/fetal development path facilitate the occurrence of scrotal hernia, a congenital malformation characterized by the presence of intestinal portions within the scrotal sac due to the abnormal expansion of the inguinal ring. In pigs, some genes have been related to this anomaly, but the genetic mechanisms involved remain unclear. This study aimed to investigate the expression profile of a set of genes potentially involved with the manifestation of scrotal hernia in the inguinal ring tissue. METHODS AND RESULTS: Tissue samples from the inguinal ring/canal of normal and scrotal hernia-affected male pigs with approximately 30 days of age were used. Relative expression analysis was performed using qPCR to confirm the expression profile of 17 candidate genes previously identified in an RNA-Seq study. Among them, the Myosin heavy chain 1 (MYH1), Desmin (DES), and Troponin 1 (TNNI1) genes were differentially expressed between groups and had reduced levels of expression in the affected animals. These genes encode proteins involved in the formation of muscle tissue, which seems to be important for increasing the resistance of the inguinal ring to the abdominal pressure, which is essential to avoid the occurrence of scrotal hernia. CONCLUSIONS: The downregulation of muscular candidate genes in the inguinal tissue clarifies the genetic mechanisms involved with this anomaly in its primary site, providing useful information for developing strategies to control this malformation in pigs and other mammals.
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Regulação para Baixo , Escroto , Animais , Masculino , Suínos/genética , Escroto/metabolismo , Escroto/anormalidades , Escroto/patologia , Regulação para Baixo/genética , Hérnia Inguinal/genética , Hérnia Inguinal/metabolismo , Hérnia Inguinal/veterinária , Perfilação da Expressão Gênica/métodos , Doenças dos Suínos/genética , Doenças dos Suínos/metabolismo , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismoRESUMO
The Zika virus received significant attention in 2016, following a declaration by the World Health Organization of an epidemic in the Americas, in which infections were associated with microcephaly. Indeed, prenatal Zika virus infection is detrimental to fetal neural stem cells and can cause premature cell loss and neurodevelopmental abnormalities in newborn infants, collectively described as congenital Zika syndrome. Contrastingly, much less is known about how neonatal infection affects the development of the newborn nervous system. Here, we investigated the development of the dentate gyrus of wild-type mice following intracranial injection of the virus at birth (postnatal day 0). Through this approach, we found that Zika virus infection affected the development of neurogenic regions within the dentate gyrus and caused reactive gliosis, cell death and a decrease in cell proliferation. Such infection also altered volumetric features of the postnatal dentate gyrus. Thus, we found that Zika virus exposure to newborn mice is detrimental to the subgranular zone of the dentate gyrus. These observations offer insight into the cellular mechanisms that underlie the neurological features of congenital Zika syndrome in children.
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Infecção por Zika virus , Zika virus , Humanos , Criança , Lactente , Feminino , Gravidez , Animais , Camundongos , Infecção por Zika virus/complicações , Neurogênese , Morte Celular , Proliferação de CélulasRESUMO
Studies on pathological fossil bones have allowed improving the knowledge of physiology and ecology, and consequently the life history of extinct organisms. Among extinct vertebrates, non-avian dinosaurs have drawn attention in terms of pathological evidence, since a wide array of fossilized lesions and diseases were noticed in these ancient organisms. Here, we evaluate the pathological conditions observed in individuals of different brachyrostran (Theropoda, Abelisauridae) taxa, including Aucasaurus garridoi, Elemgasem nubilus, and Quilmesaurus curriei. For this, we use multiple methodological approaches such as histology and computed tomography, in addition to the macroscopic evaluation. The holotype of Aucasaurus shows several pathognomonic traits of a failure of the vertebral segmentation during development, causing the presence of two fused caudal vertebrae. The occurrence of this condition in Aucasaurus is the first case to be documented so far in non-tetanuran theropods. Regarding the holotype of Elemgasem, the histology of two fused vertebrae shows an intervertebral space between the centra, thus the fusion is limited to the distal rim of the articular surfaces. This pathology is here considered as spondyloarthropathy, the first evidence for a non-tetanuran theropod. The microstructural arrangement of the right tibia of Quilmesaurus shows a marked variation in a portion of the outer cortex, probably due to the presence of the radial fibrolamellar bone tissue. Although similar bone tissue is present in other extinct vertebrates and the cause of its formation is still debated, it could be a response to some kind of pathology. Among non-avian theropods, traumatic injuries are better represented than other maladies (e.g., infection, congenital or metabolic diseases, etc.). These pathologies are recovered mainly among large-sized theropods such as Abelisauridae, Allosauridae, Carcharodontosauridae, and Tyrannosauridae, and distributed principally among axial elements. Statistical tests on the distribution of injuries in these theropod clades show a strong association between taxa-pathologies, body regions-pathologies, and taxa-body regions, suggesting different life styles and behaviours may underlie the frequency of different injuries among theropod taxa.
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Dinossauros , Humanos , Animais , Dinossauros/anatomia & histologia , Dinossauros/fisiologia , Osso e Ossos , Coluna Vertebral/diagnóstico por imagem , Fósseis , América do SulRESUMO
BACKGROUND: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. METHODS: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment. RESULTS: The sample was formed of 70 patients. The median age was 29 months (range 15 days-14 years) and the male/female ratio was 1.4. The chest tomography found parenchymal involvement in 50 (71.4%) cases and mixed involvement (parenchymal and vascular) in 18 (25.7%) cases. Congenital malformation of the pulmonary airway was present in 39 (55.7%) cases, followed by bronchogenic cyst in 10 (14.3%), intralobar pulmonary sequestration in 9 (12.9%), and extralobar pulmonary sequestration in 7 (10%). Lobectomy was performed in 61 (87.1%) cases, cystectomy in 5 (7.1%), segmentectomy in 2 (2.9%), and embolization in 2 (2.9%). The most frequent post-operative complication was pneumonia, found in 9 (12.9%) cases. The median hospital stay was 26 days. No patient died during hospitalization. CONCLUSIONS: In our institution, the most frequent CPM was congenital malformation of the pulmonary airway, and lobectomy was the most frequently performed surgical procedure. CPMs represent a diverse group of disorders of lung development with varied imaging patterns and clinical manifestations.
INTRODUCCIÓN: Las malformaciones pulmonares congénitas son poco frecuentes en niños. El objetivo de este estudio fue describir las características clínicas, imagenológicas y tratamiento de los pacientes con esta patología. MÉTODOS: Se llevó a cabo un estudio descriptivo y retrospectivo con datos de los pacientes con malformaciones pulmonares congénitas diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú) entre enero 2010 y diciembre 2020. Se describieron las características clínicas, imagenológicas, el tipo de malformación pulmonar congénita y el tratamiento. RESULTADOS: La muestra fue de 70 pacientes. La mediana de edad fue 29 meses, la relación masculino/femenino fue 1.4. En la tomografía de tórax se encontró compromiso parenquimal en 50 (71.4%) casos, y compromiso mixto (parenquimal y vascular) en 18 (25.7%). La malformación congénita de la vía aérea pulmonar se observó en 39 (55.7%) casos, seguida del quiste broncogénico en 10 (14.3%), secuestro pulmonar intralobar en 9 (12.9%) y secuestro pulmonar extralobar en 7 (10%). La lobectomía fue realizada en 61 (87.1%) casos, la quistectomía en 5 (7.1%), segmentectomía en 2 (2.9%) y embolización en 2 (2.9%). La complicación posquirúrgica más frecuente fue la neumonía en 9 (12.9%) casos. La mediana de estancia hospitalaria fue de 26 días. Ningún paciente falleció durante la hospitalización. CONCLUSIONES: En nuestra institución, la malformación pulmonar congénita más frecuente fue la malformación congénita de la vía aérea pulmonar, y la lobectomía el procedimiento quirúrgico más comúnmente realizado. Las malformaciones pulmonares congénitas representan un grupo diverso de trastornos del desarrollo pulmonar con variados patrones imagenológicos y manifestaciones clínicas.
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Sequestro Broncopulmonar , Anormalidades do Sistema Respiratório , Humanos , Criança , Feminino , Masculino , Recém-Nascido , Sequestro Broncopulmonar/diagnóstico , Sequestro Broncopulmonar/epidemiologia , Sequestro Broncopulmonar/cirurgia , Hospitais Pediátricos , Peru/epidemiologia , Estudos Retrospectivos , Anormalidades do Sistema Respiratório/diagnóstico , Anormalidades do Sistema Respiratório/epidemiologia , Anormalidades do Sistema Respiratório/cirurgia , PulmãoRESUMO
Abstract Background: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. Methods: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment. Results: The sample was formed of 70 patients. The median age was 29 months (range 15 days-14 years) and the male/female ratio was 1.4. The chest tomography found parenchymal involvement in 50 (71.4%) cases and mixed involvement (parenchymal and vascular) in 18 (25.7%) cases. Congenital malformation of the pulmonary airway was present in 39 (55.7%) cases, followed by bronchogenic cyst in 10 (14.3%), intralobar pulmonary sequestration in 9 (12.9%), and extralobar pulmonary sequestration in 7 (10%). Lobectomy was performed in 61 (87.1%) cases, cystectomy in 5 (7.1%), segmentectomy in 2 (2.9%), and embolization in 2 (2.9%). The most frequent post-operative complication was pneumonia, found in 9 (12.9%) cases. The median hospital stay was 26 days. No patient died during hospitalization. Conclusions: In our institution, the most frequent CPM was congenital malformation of the pulmonary airway, and lobectomy was the most frequently performed surgical procedure. CPMs represent a diverse group of disorders of lung development with varied imaging patterns and clinical manifestations.
Resumen Introducción: Las malformaciones pulmonares congénitas son poco frecuentes en niños. El objetivo de este estudio fue describir las características clínicas, imagenológicas y tratamiento de los pacientes con esta patología. Métodos: Se llevó a cabo un estudio descriptivo y retrospectivo con datos de los pacientes con malformaciones pulmonares congénitas diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú) entre enero 2010 y diciembre 2020. Se describieron las características clínicas, imagenológicas, el tipo de malformación pulmonar congénita y el tratamiento. Resultados: La muestra fue de 70 pacientes. La mediana de edad fue 29 meses, la relación masculino/femenino fue 1.4. En la tomografía de tórax se encontró compromiso parenquimal en 50 (71.4%) casos, y compromiso mixto (parenquimal y vascular) en 18 (25.7%). La malformación congénita de la vía aérea pulmonar se observó en 39 (55.7%) casos, seguida del quiste broncogénico en 10 (14.3%), secuestro pulmonar intralobar en 9 (12.9%) y secuestro pulmonar extralobar en 7 (10%). La lobectomía fue realizada en 61 (87.1%) casos, la quistectomía en 5 (7.1%), segmentectomía en 2 (2.9%) y embolización en 2 (2.9%). La complicación posquirúrgica más frecuente fue la neumonía en 9 (12.9%) casos. La mediana de estancia hospitalaria fue de 26 días. Ningún paciente falleció durante la hospitalización. Conclusiones: En nuestra institución, la malformación pulmonar congénita más frecuente fue la malformación congénita de la vía aérea pulmonar, y la lobectomía el procedimiento quirúrgico más comúnmente realizado. Las malformaciones pulmonares congénitas representan un grupo diverso de trastornos del desarrollo pulmonar con variados patrones imagenológicos y manifestaciones clínicas.
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OBJECTIVE: To assess the associations between congenital abnormalities and pediatric malignancies and evaluate the potential underlying molecular basis by collecting information on pediatric patients with cancer and congenital abnormalities. STUDY DESIGN: Tumeur Et Développement is a national, prospective, and retrospective multicenter study recording data of children with cancer and congenital abnormalities. When feasible, blood and tumoral samples are collected for virtual biobanking. RESULTS: From June 2013 to December 2019, 679 associations between pediatric cancers and congenital abnormalities were recorded. The most represented cancers were central nervous system tumors (n = 139; 20%), leukemia and myelodysplastic syndromes (n = 123; 18.1%), and renal tumors (n = 101; 15%). Congenital abnormalities were not related to any known genetic disorder in 66.5% of cases. In this group, the most common anomaly was intellectual disability (22.3%), followed by musculoskeletal (14.2%) and genitourinary anomalies (12.4%). Intellectual disability was mostly associated with hematologic malignancies. Embryonic tumors (neuroblastoma, Wilms tumor, and rhabdomyosarcoma) were associated with consistent abnormalities, sometimes with a close anatomical neighborhood between the abnormality and the neoplasm. CONCLUSIONS: In the first Tumeur Et Développement analysis, 3 major themes have been identified: (1) germline mutations with or without known cancer predisposition, (2) postzygotic events responsible for genomic mosaicism, (3) coincidental associations. New pathways involved in cancer development need to be investigated to improve our understanding of childhood cancers.
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Neoplasias do Sistema Nervoso Central , Anormalidades Congênitas , Deficiência Intelectual , Criança , Humanos , Estudos de Coortes , Estudos Prospectivos , Bancos de Espécimes Biológicos , Anormalidades Congênitas/genéticaRESUMO
Pectus excavatum is a deformity of the thorax characterized by ventrodorsal narrowing of the sternum bone and costal cartilages, which can lead to compression and cardiopulmonary alterations in dogs, presenting a high prevalence in brachycephalic breeds. The aim of this report was to describe two types of management for the noninvasive treatment of pectus excavatum in newborn puppies of the breeds French Bulldog and American Bully. The puppies presented dyspnea, cyanosis and substernal retraction during inspiration. The diagnosis was performed by physical examination and confirmed by chest X-ray. Two types of splints were performed (a circular splint with plastic pipe and a paper box splint on the chest), aiming at thoracic lateral compression and frontal chest remodeling. The management was effective for the conservative treatment of mild-grade pectus excavatum, resulting in the repositioning of the thorax and improvement of the respiratory pattern.
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Resumen ANTECEDENTE: El síndrome de Karsch-Neugebauer o ectrodactilia del pie o pie hendido, es una enfermedad congénita sumamente rara, caracterizada por aplasia-hipoplasia de las falanges y metatarsianos del pie. Cuando aparece de forma aislada se debe a una forma autosómica dominante de expresión variable, aunque también puede ser de carácter autosómico recesivo. CASO CLÍNICO: Paciente de 31 años, sin antecedentes heredofamiliares de importancia, con IMC de 25.95 kg/m2, signos vitales en parámetros normales. Con dos embarazos, cesárea previa sin complicaciones. El ultrasonido estructural 20 a 23.6 semanas del embarazo actual reportó un feto vivo, de sexo femenino y 22.2 semanas de gestación, con múltiples alteraciones anatómicas: arteria umbilical única, hueso nasal hipoplásico, micrognatia en ángulo facial y miembros inferiores con ectrodactilia bilateral. CONCLUSIONES: Los estudios ultrasonográficos, en especial el de las semanas 20 a 23.6 de gestación son decisivos para la detección de malformaciones congénitas. Sin embargo, a partir de las 11 a 13.6 semanas es posible establecer diagnósticos estructurales de manera temprana. Muchas alteraciones y síndromes, como el de Karsch-Neugebauer, suelen ser incapacitantes y al combinarse con otras anomalías pueden llegar a ser incompatibles con la vida. Se requieren diagnósticos tempranos para la toma de decisiones de manera consensuada con la familia y el equipo multidisciplinario.
Abstract BACKGROUND: Karsch-Neugebauer syndrome, or ectrodactyly of the foot or cleft foot, is an extremely rare congenital disorder characterized by aplasia-hypoplasia of the phalanges and metatarsals of the foot. When it occurs in isolation, it is due to an autosomal dominant form of variable expression, although it can also be autosomal recessive. CLINICAL CASE: 31-year-old female patient with no significant hereditary family history, BMI of 25.95 kg/m2, vital signs within normal parameters. With two pregnancies, previous caesarean section without complications. Structural ultrasound 20 to 23.6 weeks of the current pregnancy showed a live fetus, female sex and 22.2 weeks gestation, with multiple anatomical anomalies: single umbilical artery, hypoplastic nasal bone, micrognathia in the facial angle and lower limbs with bilateral ectrodactyly. CONCLUSIONS: Ultrasound examinations, especially at 20 to 23.6 weeks of gestation, are crucial for the detection of congenital malformations. However, from 11 to 13.6 weeks it is possible to make early structural diagnoses. Many disorders and syndromes, such as Karsch-Neugebauer syndrome, are often disabling and, in combination with other anomalies, can become incompatible with life. Early diagnosis is necessary to make informed decisions with the family and the multidisciplinary team.
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Macrodactyly is a serious and rare disease and considered one of the most difficult pathologies to treat. There is no rule and the treatment for each patient must be tailor-made, depending on the location and degree of macrodactyly. Although amputation is a valid option for adult patients, nail preservation and reconstruction are important and has a direct impact on the treatment outcome, both aesthetically and on the patient's self-esteem. We have used a wide, z-shaped fingertip flap associated with the preservation of a nail quadrant, bone shortening and distal interphalangeal arthrodesis. We have obtained good functional and aesthetic outcomes with this 'quadrant flap' technique. The technique allows decreasing digit size and volume and reconstruction of the nail complex and finger pulp. Level of Evidence: Level V (Therapeutic).
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Amputação Traumática , Traumatismos dos Dedos , Adulto , Amputação Traumática/cirurgia , Traumatismos dos Dedos/cirurgia , Dedos/anormalidades , Dedos/diagnóstico por imagem , Dedos/cirurgia , Humanos , Deformidades Congênitas dos Membros , Retalhos CirúrgicosRESUMO
OBJECTIVE: To systematically describe the short stature of patients with Diamond-Blackfan anemia and to explore factors affecting the height development of patients with Diamond-Blackfan anemia. STUDY DESIGN: This cross-sectional study was conducted at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, and the height, weight, and clinical data of 129 patients with Diamond-Blackfan anemia were collected from June 2020 to September 2020. RESULTS: The median height-age-z score (HAZ) of children affected by Diamond-Blackfan anemia was -1.54 (-6.36-1.96). Short stature was found in 37.98% of the patients. Specific Diamond-Blackfan anemia growth curves were developed for weight, height, and body mass index, separately for male and female patients. Multivariable logistic regression models showed that female sex (aOR 4.92; 95% CI 1.29-18.71; P = .0195), underweight (aOR 10.41, 95% CI 1.41-76.98, P = .0217), cardiovascular malformations (aOR 216.65; 95% CI 3.29-14279.79; P = .0118), and RPL11(aOR 29.14; 95% CI 1.18-719.10; P = .0392) or RPS26 (aOR 53.49; 95% CI 1.40-2044.30; P = .0323) mutations were independent risk factors for short stature. In the subgroup of patients who were steroid-dependent, patients with a duration of steroid therapy over 2 years (OR 2.95; 95% CI 1.00-8.66; P = .0494) or maintenance dose of prednisone >0.1 mg/kg per day (OR 3.30; 95% CI 1.02-10.72; P = .0470) had a higher incidence of short stature. CONCLUSIONS: Patients with Diamond-Blackfan anemia had a high prevalence of short stature. The risk of short stature increased with age and was associated with sex, underweight, congenital malformations, and RPL11 or RPS26 mutations. The duration of steroid therapy and maintenance dose of steroid was significantly associated with the incidence of short stature in steroid-dependent patients with Diamond-Blackfan anemia.
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Anemia de Diamond-Blackfan/epidemiologia , Nanismo/epidemiologia , Anormalidades Múltiplas/epidemiologia , Adolescente , Fatores Etários , Anemia de Diamond-Blackfan/tratamento farmacológico , Anemia de Diamond-Blackfan/genética , Criança , Pré-Escolar , China , Estudos Transversais , Nanismo/etiologia , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Humanos , Lactente , Masculino , Mutação , Prednisona/administração & dosagem , Prednisona/efeitos adversos , Proteínas Ribossômicas , Fatores SexuaisRESUMO
Multiple congenital malformations can occur concomitantly in several species since the anomaly in one organ may lead directly to the malformation of another. Additionally, the etiology is not always clarified. Choristoma refers to an ectopic tissue that is histologically normal in an abnormal location. A case of pulmonary and nodal choristoma associated with cranioschisis, hydrocephalus, and syringomyelia in a new-born calf is reported here. Clinically, the calf had a mass in the frontal region of the head associated with local bone deformation. At necropsy, there was cranioschisis in the junction of the frontal bones and a 14 × 10 × 7 cm mass, grossly consistent with well-differentiated pulmonary tissue covered by skin, covering the opening between the frontal bones, and extending into the cranial cavity, leading to local cerebral compression. With the pulmonary choristoma, there was a well-differentiated lymphoid tissue. Additionally, in the central nervous system, there was severe hydrocephalus involving lateral ventricles and multiple areas of syringomyelia in the spinal cord.
Múltiplas malformações congênitas podem ocorrer concomitantemente em diversas espécies, uma vez que a anomalia em um órgão pode diretamente acarretar a malformação de outro. Ainda, a etiologia envolvida nem sempre é identificada. Coristomas são caracterizados por tecido ectópico histologicamente normal em uma localização anômala. Um caso de coristoma pulmonar e nodal associado a craniosquise, hidrocefalia e siringomielia em um bezerro recém-nascido é descrito neste trabalho. Clinicamente, o bezerro apresentava uma massa na região frontal da cabeça associada a deformação óssea local. No exame de necropsia, havia craniosquise na junção dos ossos frontais e tecido pulmonar bem diferenciado recoberto por pele, medindo 14 x 10 x 7 cm, recobrindo a abertura entre os ossos frontais e adentrando a cavidade craniana, acarretando o achatamento do córtex cerebral adjacente. Juntamente com o tecido pulmonar, havia um nódulo composto por tecido linfoide bem diferenciado. Adicionalmente, no sistema nervoso central, havia hidrocefalia severa envolvendo os ventrículos laterais e múltiplas áreas de siringomielia na medula espinhal.
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Animais , Feminino , Bovinos , Siringomielia/veterinária , Anormalidades Congênitas/veterinária , Bovinos/anormalidades , Coristoma/veterinária , Hidrocefalia/veterinária , PulmãoRESUMO
Resumen OBJETIVO: Conocer los aportes de la resonancia magnética, como estudio complementario al ultrasonido, en el diagnóstico de malformaciones fetales en el sistema nervioso central, musculoesquelético y tórax en dos unidades de Medicina Materno Fetal. MATERIALES Y MÉTODOS: Estudio retrospectivo, observacional y comparativo, de corte transversal, efectuado con base en la revisión de las historias clínicas registradas durante tres años de pacientes con más de 18 semanas de embarazo remitidas a la Unidad de Medicina Materno Fetal del Hospital San José y la Clínica Colsubsidio por alguna malformación estructural fetal identificada en el sistema nervioso central, musculoesquelético y tórax diagnosticada con base en la ultrasonografía. RESULTADOS: Se revisaron 109 historias clínicas de pacientes embarazadas con fetos con diagnóstico de malformación congénita por ultrasonido. Las indicaciones más frecuentes fueron: anormalidades en el sistema nervioso central en 61.5%; hidrocefalia no comunicante en 36.6% por ultrasonido y 21% por resonancia magnética, seguida de las del tórax con 40.4% por ultrasonido y 36.7% por resonancia magnética y malformaciones del sistema musculoesquelético con 20.1% por ultrasonido y 2.8% por resonancia magnética. La concordancia diagnóstica entre el ultrasonido y el diagnóstico posnatal fue del 66% y el de la resonancia magnética de 76%. En comparación con el ultrasonido inicial la resonancia magnética aumentó la frecuencia de diagnóstico de malformación fetal. CONCLUSIÓN: La resonancia magnética, complementaria al diagnóstico por ultrasonido de malformaciones congénitas, fue más notable en los sistemas nervioso central y musculoesquelético donde permitió mejorar la caracterización de las alteraciones detectadas en el ultrasonido.
Abstract OBJECTIVE: To know the contributions of magnetic resonance imaging, as a complementary study to ultrasound, in the diagnosis of fetal malformations in the central nervous system, musculoskeletal and thorax in two units of Maternal Fetal Medicine. MATERIALS AND METHODS: Retrospective, observational and comparative cross-sectional study, based on the review of medical records recorded during three years of patients with more than 18 weeks of pregnancy referred to the Maternal Fetal Medicine Unit of Hospital San José and Clínica Colsubsidio, for any fetal structural malformation identified in the central nervous system, musculoskeletal and thorax diagnosed based on ultrasonography. RESULTS: We reviewed 109 clinical histories of pregnant patients with fetuses diagnosed with congenital malformation by ultrasound. The most frequent indications were abnormalities of the central nervous system in 61.5%: non-communicating hydrocephalus in 36.6% by ultrasound and 21% by MRI, followed by those of the thorax with 40.4% by ultrasound and 36.7 by MRI and malformations of the musculoskeletal system 20.1% by ultrasound and 2.8% by MRI. The diagnostic agreement between ultrasound and postnatal diagnosis was 66% and that of MRI was 76%. Compared to initial ultrasound, MRI increased the frequency of diagnosis of fetal malformation. CONCLUSION: MRI, complementary to ultrasound diagnosis of congenital malformations, was more notable in the central nervous and musculoskeletal systems where it allowed improving the characterization of the alterations detected by ultrasound.
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Introduction: Obstetric ultrasound is part of the screening to select the population at high risk of having a congenital malformation. Considering that fetal defects occur in approximately 2-4 out of every 100 live newborns, and are the cause of 35-40% of perinatal mortality in Chile, it is therefore justified to perform the second trimester ultrasound, which presents a high index prenatal screening (56%), with few false positives. Methods: A retrospective, cross-sectional and descriptive study was carried out, by reviewing 6,385 ultrasound scans, which were performed during one year (June 2020-June 2021), at the Regional Hospital of Talca, where 126 fetuses with suspected malformation were detected. Results: Of the total number of patients evaluated, a congenital malformation rate of 1.9% was detected, with cardiac malformations the most frequent, and diabetes mellitus the main risk factor. Conclusions: Antenatal ultrasound study is essential in the first and second trimesters of pregnancy, followed by a referral to an ultrasound committee, emphasizing early and interdisciplinary management. The frequencies found are similar to those reported in the international bibliography
Assuntos
Humanos , Feminino , Gravidez , Adulto , Adulto Jovem , Anormalidades Congênitas/genética , Anormalidades Congênitas/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Comorbidade , Chile , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Transtornos Cromossômicos/genéticaRESUMO
AIM: Major congenital anomalies are an important cause of death in the neonatal intensive care unit (NICU). Therapeutic interventions and the suspension of those already in place often raise ethical dilemmas in neonatal care. METHODS: We analysed treatments-such as ventilatory support, vasoactive drugs, antibiotics, sedation/or analgesia, central venous access and other invasive procedures-offered up to 48 h before death to all newborns with major congenital anomalies over a 3-year period in a NICU in Brazil. We also gathered information contained in medical records concerning conversations with the families and decisions to limit therapeutic interventions. RESULTS: We enrolled 74 newborns who were hospitalised from 1 January 2015 to 31 December 2017. A total of 81.1% had central venous access, 74.3% were on ventilatory support, 56.8% received antibiotics and 43.2% used some sedative/analgesic drugs in their final moments. Conversations were registered in medical records in 76% of cases, and 46% of the families chose therapeutic intervention limits. Those who chose to limit therapeutic interventions asked for less exposure to vasoactive drugs (P = 0.003) and antibiotics (P = 0.003), as well as fewer invasive procedures (P = 0.046). There was no change in ventilatory support (P = 0.66), and palliative extubation was not performed for any patient. CONCLUSIONS: The therapeutic intervention was mainly characterised by maintenance of the current treatment when a terminal situation was identified with no introduction of new treatments that could increase suffering. The families' approach proved to be essential for making difficult decisions in the NICU.
Assuntos
Unidades de Terapia Intensiva Neonatal , Cuidados Paliativos , Brasil , Tomada de Decisões , Humanos , Recém-Nascido , Manejo da DorRESUMO
Gallbladder agenesis is a congenital malformation that is considered extremely rare in dogs. The disease can course asymptomatically or with clinical signs, usually non-specific and including vomiting, anorexia, diarrhea, ascites, and lethargy. The objective of this report was to describe the clinical and anatomopathological aspects of a dog with hepatic encephalopathy secondary to gallbladder agenesis. This condition can be diagnosed during surgery or imaging examinations; however, it is often an incidental finding. In the biochemical examinations, a decrease in alanine aminotransferase and an increase in alkaline phosphatase and hypoalbuminemia were observed. During the necropsy, hepatomegaly was observed with absence of the gallbladder, congestion, cerebral edema, lipiduria, and pulmonary edema. Microscopically, there was intense fibrosis and inflammation in the liver due to chronic cholangiohepatitis (cirrhosis of the liver). The consequence of this lesion secondary to gallbladder agenesis was hepatic encephalopathy. Chronic liver failure exposes the cerebral cortex to toxins that are not metabolized by the liver, such as ammonia, mercaptans, short-chain fatty acids, scatols, indols, and aromatic amino acids. These toxins cause reversible damage to the brain, which results in neurological disorders. In this report, the dog had no clinical neurological signs, and the diagnosis of this condition was observed histologically. Dogs with gallbladder agenesis usually have clinical and pathological findings of hepatobiliary lesions such as cholestasis, cholangiohepatitis, and, in severe cases, hepatic encephalopathy, which are necessary to differentiate from other diseases that affect the hepatobiliary system, such as cholelithiasis, neoplasms, and chronic hepatitis.
A agenesia de vesícula biliar é uma má formação congênita, considerada extremamente rara em cães. A doença pode cursar de forma assintomática ou com sinais clínicos, geralmente, inespecíficos que incluem vômitos, anorexia, diarreia, ascite e letargia. O objetivo deste relato foi descrever os aspectos clínicos e anatomopatológicos de um cão com encefalopatia hepá-tica secundária a agenesia da vesícula biliar, esta condição pode ser diagnosticada durante uma cirurgia ou exames de imagem, entretanto frequentemente é um achado incidental. Como resultados, nos exames bioquímicos observou-se a diminuição da alanina aminotransferase, aumento da fosfatase alcalina e hipoalbuminemia. Durante a necropsia foi observado hepatomegalia com ausência da vesícula biliar, congestão e edema cerebral, lipidúria e edema pulmonar. Microscopicamente, no fígado havia intensa fibrose e inflamação pela colangiohepatite crônica (cirrose hepática). A consequência desta lesão secundária a agenesia da vesícula biliar, foi a encefalopatia hepática. A insuficiência hepática crônica expõe o córtex cerebral às toxinas não metabo-lizadas pelo fígado, tais como a amônia, mercaptanos, ácidos graxos de cadeia curta, escatóis, indóis e aminoácidos aromáti-cos. Essas toxinas causam danos reversíveis ao encéfalo, o que resulta em distúrbios neurológicos. No presente caso, o cão não apresentou sinais clínicos neurológicos e o diagnóstico desta condição foi observado histologicamente. Cães com agenesia de vesícula biliar, geralmente exibem achados clínicos e patológicos de lesões hepatobiliares, como colestase, conlangiohepatite e, em casos graves, encefalopatia hepática, sendo necessário diferenciar de outras doenças que acometem o sistema hepatobiliar, como colelitíase, neoplasias e hepatites crônicas.
Assuntos
Animais , Adulto , Cães , Cirrose Hepática/veterinária , Cães , Encefalopatia Hepática/diagnóstico , Encefalopatia Hepática/veterináriaRESUMO
Gallbladder agenesis is a congenital malformation that is considered extremely rare in dogs. The disease can course asymptomatically or with clinical signs, usually non-specific and including vomiting, anorexia, diarrhea, ascites, and lethargy. The objective of this report was to describe the clinical and anatomopathological aspects of a dog with hepatic encephalopathy secondary to gallbladder agenesis. This condition can be diagnosed during surgery or imaging examinations; however, it is often an incidental finding. In the biochemical examinations, a decrease in alanine aminotransferase and an increase in alkaline phosphatase and hypoalbuminemia were observed. During the necropsy, hepatomegaly was observed with absence of the gallbladder, congestion, cerebral edema, lipiduria, and pulmonary edema. Microscopically, there was intense fibrosis and inflammation in the liver due to chronic cholangiohepatitis (cirrhosis of the liver). The consequence of this lesion secondary to gallbladder agenesis was hepatic encephalopathy. Chronic liver failure exposes the cerebral cortex to toxins that are not metabolized by the liver, such as ammonia, mercaptans, short-chain fatty acids, scatols, indols, and aromatic amino acids. These toxins cause reversible damage to the brain, which results in neurological disorders. In this report, the dog had no clinical neurological signs, and the diagnosis of this condition was observed histologically. Dogs with gallbladder agenesis usually have clinical and pathological findings of hepatobiliary lesions such as cholestasis, cholangiohepatitis, and, in severe cases, hepatic encephalopathy, which are necessary to differentiate from other diseases that affect the hepatobiliary system, such as cholelithiasis, neoplasms, and chronic hepatitis.(AU)
A agenesia de vesícula biliar é uma má formação congênita, considerada extremamente rara em cães. A doença pode cursar de forma assintomática ou com sinais clínicos, geralmente, inespecíficos que incluem vômitos, anorexia, diarreia, ascite e letargia. O objetivo deste relato foi descrever os aspectos clínicos e anatomopatológicos de um cão com encefalopatia hepá-tica secundária a agenesia da vesícula biliar, esta condição pode ser diagnosticada durante uma cirurgia ou exames de imagem, entretanto frequentemente é um achado incidental. Como resultados, nos exames bioquímicos observou-se a diminuição da alanina aminotransferase, aumento da fosfatase alcalina e hipoalbuminemia. Durante a necropsia foi observado hepatomegalia com ausência da vesícula biliar, congestão e edema cerebral, lipidúria e edema pulmonar. Microscopicamente, no fígado havia intensa fibrose e inflamação pela colangiohepatite crônica (cirrose hepática). A consequência desta lesão secundária a agenesia da vesícula biliar, foi a encefalopatia hepática. A insuficiência hepática crônica expõe o córtex cerebral às toxinas não metabo-lizadas pelo fígado, tais como a amônia, mercaptanos, ácidos graxos de cadeia curta, escatóis, indóis e aminoácidos aromáti-cos. Essas toxinas causam danos reversíveis ao encéfalo, o que resulta em distúrbios neurológicos. No presente caso, o cão não apresentou sinais clínicos neurológicos e o diagnóstico desta condição foi observado histologicamente. Cães com agenesia de vesícula biliar, geralmente exibem achados clínicos e patológicos de lesões hepatobiliares, como colestase, conlangiohepatite e, em casos graves, encefalopatia hepática, sendo necessário diferenciar de outras doenças que acometem o sistema hepatobiliar, como colelitíase, neoplasias e hepatites crônicas.(AU)
Assuntos
Animais , Adulto , Cães , Cães , Encefalopatia Hepática/diagnóstico , Encefalopatia Hepática/veterinária , Cirrose Hepática/veterináriaRESUMO
Congenital malformations are morphofunctional abnormalities of tissues and organs that can occur during embryonic or fetal development in all animal species. Among these, dicephalus is characterized by the development of an individual with two heads and two necks, due to the total duplication of facial, cranial, and brain structures. Reports of dicephalus in cattle are scarce and do not normally emphasize radiographic and bone anatomy characteristics. The objective was to describe a case of a stillborn dicephalus calf. The duplication of the head, brain, neck, and two thoracic vertebral columns, isolated from each other, with 13 vertebrae each was verified radiographically. There were 13 pairs of ribs, the ones on the right side articulated with the thoracic spine on the right and the left ones with the spine on the left. Caudally at T13, there was only one lumbar spine, sacral and coccygeal. In the ventrodorsal projection, L1, L2, L3, and L6 had the shape of a butterfly (suggestive of hemivertebrae). At necropsy, in addition to craniocervical and spinal morphological changes, collapsed lungs, duplication of the heart with anastomosis between the aortic arches of the hearts, and duplication of the upper digestive tract were observed. Additionally, there was arthrogryposis of the pelvic limbs. Corpse maceration, followed by the skeletal assembly, showed the bone changes previously observed and confirmed the suspicion of hemivertebrae.
Assuntos
Animais , Bovinos , Anormalidades da Pele/fisiopatologia , Bovinos/anatomia & histologia , Gêmeos Unidos/fisiopatologia , RadiografiaRESUMO
Congenital malformations are morphofunctional abnormalities of tissues and organs that can occur during embryonic or fetal development in all animal species. Among these, dicephalus is characterized by the development of an individual with two heads and two necks, due to the total duplication of facial, cranial, and brain structures. Reports of dicephalus in cattle are scarce and do not normally emphasize radiographic and bone anatomy characteristics. The objective was to describe a case of a stillborn dicephalus calf. The duplication of the head, brain, neck, and two thoracic vertebral columns, isolated from each other, with 13 vertebrae each was verified radiographically. There were 13 pairs of ribs, the ones on the right side articulated with the thoracic spine on the right and the left ones with the spine on the left. Caudally at T13, there was only one lumbar spine, sacral and coccygeal. In the ventrodorsal projection, L1, L2, L3, and L6 had the shape of a butterfly (suggestive of hemivertebrae). At necropsy, in addition to craniocervical and spinal morphological changes, collapsed lungs, duplication of the heart with anastomosis between the aortic arches of the hearts, and duplication of the upper digestive tract were observed. Additionally, there was arthrogryposis of the pelvic limbs. Corpse maceration, followed by the skeletal assembly, showed the bone changes previously observed and confirmed the suspicion of hemivertebrae.(AU)
Assuntos
Animais , Bovinos , Bovinos/anatomia & histologia , Anormalidades da Pele/fisiopatologia , Gêmeos Unidos/fisiopatologia , RadiografiaRESUMO
RESUMO: Este artigo objetiva analisar o sentimento materno ao receber um diagnóstico de malformação congênita do filho nos períodos: pré-natal, nascimento e primeira infância. O estudo foi realizado com mães de filhos com anomalia fetal, por meio de noventa e sete entrevistas, que continham perguntas sobre gravidez e percepção acerca do diagnóstico. Direcionado ao sentimento destacam-se as questões: 'Como você se sentiu ao receber o diagnóstico?', 'Qual o sentimento atual?', 'Como encontrou conforto?'. Para compreensão dos dados foi utilizada a análise qualitativa de conteúdo com base numa estrutura de categorias. O diagnóstico de malformação congênita desmitifica as expectativas maternas quanto ao futuro do filho, configurando um cenário de ansiedade, confusão, insegurança e múltiplos medos. O auxílio, seja da equipe multidisciplinar de saúde, religioso ou familiar, é importante para ajudar mães a reduzirem o impacto emocional do diagnóstico, além de auxiliar com as dificuldades iniciais em estabelecer o vínculo com o bebê.
RESUMEN: El objetivo de articulo es analisar el sentimiento de la madre al recibir, en los períodos pré-natal, nacimento y primera infância, el diagnóstico de malformación congênita de su hijo. Para ello fue realizado un estúdio con madres cuyos hijos son portadores de anomalia fetal, por medio de noventa y siete entrevistas, que contenían preguntas sobre el embarazo y sobre el impacto de conocer el diagnóstico del bebé. Direccionado al sentimiento materno, se destacan en él, los siguientes aspectos: 'Como usted se sentio al recibir el diagnóstico?', 'Cual es su sentimiento actualmente?', 'Como encontro consuelo?'. Para poder compreender mejor los datos fue utilizada una análisis cualitativa de contenido con base en una estructura de categorias. El diagnóstico de malformación congénita desmitifica las expectativas maternas em relación al futuro de su hijo, configurando un escenário de ansiedad, confusión, inseguridad e múltiples miedos. El auxílio, sea del equipo multidisciplinario de salud, religioso o familiar, es importante para ayudar a las madres a reduzir el impacto emocional producido por el conocimiento del diagnóstico, y además servir de auxilio en las dificuldades iniciales de establecer un vínculo con el bebé.
ABSTRACT: This article aims to analyze the maternal feelings about a congenital malformation diagnosis received before birth, immediately after birth, or in early infancy. This study was conducted with mothers whose children have congenital anomalies, based on ninety-seven interviews that included questions regarding pregnancy and the mothers' perspective on their child diagnosis. Regarding maternal feelings, the main questions were: 'How did you feel when you first heard the diagnosis?', 'How have you been feeling?', 'Where have sought comfort?'. Qualitative analysis was performed based on categories for data comprehension. Congenital malformation diagnosis breaks down the maternal expectations around the child's future, creating an environment full of anxiety, confusion, insecurity and multiple fears. The support of the multidisciplinary health team, religious and domestic is important to reduce the emotional impact suffered by the mothers after the diagnosis. It also helps the early difficulties in bonding with the baby.