ABSTRACT
Resumen: Introducción: Las malformaciones congénitas vertebrales y costales concomitantes comprenden un grupo heterogéneo de enfermedades denominadas disostosis espondilocostal. Tienen en común la alteración del desarrollo o morfología de las estructuras vertebrales y de la caja torácica con una expresividad variable: desde la deformidad leve sin consecuencias funcionales hasta lesiones que amenazan la vida. Se presenta el caso de una niña con disostosis espondilocostal y colangitis aguda. Caso clínico: Paciente de sexo femenino de 13 meses de edad con desnutrición severa y antecedente de hidrocefalia y mielomeningocele quien ingresa al servicio de Urgencias por presentar dificultad respiratoria progresiva y fiebre. En la evaluación se encontraron malformaciones costovertebrales y colangitis aguda. Conclusiones: Las anormalidades costales complejas consisten en malformaciones de la pared torácica sin un patrón determinado y son extremadamente raras. Cuando se presentan al mismo tiempo que las malformaciones vertebrales, puede considerarse como síndrome de disostosis espondilocostal ligado a herencia autosómica recesiva. El diagnóstico es clínico-radiográfico. La identificación de la disostosis espondilocostal y las complicaciones relacionadas con sus causas genético-moleculares implican un reto para el pediatra y el equipo multidisciplinario que los trata a lo largo de su vida.
Abstract: Background: Congenital malformations of the chest wall comprise a heterogeneous group of diseases denominated spondylocostal dysostosis. They have in common developmental abnormalities in the morphology of the structures of the chest and vertebrae with a broad characterization: from mild deformity without functional consequences to life-threatening injuries. We present the case of a girl with spondylocostal dysostosis and acute cholangitis. Clinical case: A 13-month-old girl with severe malnutrition, history of hydrocephalus and myelomeningocele at birth was admitted in the emergency pediatric room with fever and progressive respiratory distress. Clinical assessment revealed ribs and vertebral malformations and acute cholangitis. Conclusions: Complex rib abnormalities consist in deformities of the chest wall, which do not have a specific pattern and are extremely rare. When they are associated with myelomeningocele and hydrocephalus they may be considered as autosomal recessive inheritance spondylocostal dysostosis. The diagnosis is established by clinical assessment and X-rays. Spondylocostal dysostosis identification and complications related to their genetic and molecular causes are still a challenge for clinical pediatricians and the multidisciplinary medical team who treats these patients throughout lifetime.
ABSTRACT
A hipospadia é uma anomalia congênita da genitália externa, na qual a uretra peniana termina ventral e caudalmente à sua abertura normal. Pode ser classificada, com base na localização da abertura uretral, como glandular, peniana, escrotal, perineal e anal. O objetivo deste trabalho é relatar um caso raro de hipospadia perineal, em que são abordados seus aspectos clínicos e terapêuticos, em um cão macho, sem raça definida, com seis meses de idade. Um canino com histórico de suspeita de hermafroditismo e presença de um orifício, logo abaixo do ânus, pelo qual urinava foi atendido no Hospital de Clínicas Veterinárias da Universidade Federal do Rio Grande do Sul (UFRGS). Durante o exame físico, foi observado o meato uretral localizado ventralmente ao ânus, além de alterações no prepúcio, pênis e escroto. Foram realizados exames de triagem, tais como: hemograma completo, urinálise, ecografia abdominal e uretrocistografia. O cão foi encaminhado para a cirurgia, quando foi submetido à amputação peniana e prepucial total e também à orquiectomia. O canino recebeu antibioticoterapia, analgésicos, anti-inflamatório e limpezas diárias dos pontos e da região perineal e apresentou excelente recuperação pós-operatória. Após 30 dias da cirurgia, o paciente retornou ao hospital, e foi verificada completa cicatrização da ferida cirúrgica, sem sinais de infecção urinária e inflamação ou assaduras na região perineal. A hipospadia perineal é um caso raro de anomalia uretral congênita, ainda pouco documentada em medicina veterinária. O procedimento cirúrgico realizado demonstrou ser importante, uma vez que removeu toda a genitália externa defeituosa, onde, futuramente, poderiam desenvolver-se infecções e/ou inflamações. Com isso, minimizou as complicações dessa doença e melhorou a qualidade de vida do paciente...
Hypospadias is a congenital anomaly of the external genitalia, where the penile urethra finishes its normal opening ventrally and caudally. It can be classified based on the location of the urethral opening as glandular, penile, scrotal, perineal and anal. The aim of this work was report an uncommon case of perineal hypospadias, working on the clinical and therapeutic aspects in a six-month-old male dog of undefined race. A dog with a history of suspected hermaphroditism and presenting a hole below the anus by which it urinated, was rescued at the Veterinary Teaching Hospital of the Federal University of Rio Grande do Sul (UFRGS). During the physical exam, it was observed that the urethral meatus was situated ventrally to the anus. Foreskin, penis and scrotum alterations were also seen on the dog. Screening exams such as complete blood count, urinalysis, abdominal ultrasound and cystourethrography were done. The dog went straight to surgery, where it had total penile and total preputial amputation and also orchiectomy. The canine showed excellent postoperative recovery, receiving antibiotic therapy, analgesics, anti-inflammatories and daily cleaning on stitches and the perineal region. Thirty days after surgery the patient went back to the Hospital presenting a complete healing of the surgical wound, without reporting signs of urinary infection and inflammation or rashes on the perineal region. The perineal hypospadias is a rare case of urethral congenital anomaly, still not well documented by veterinary medicine. The surgical procedure done demonstrated to be important, since there was the removal of all of the defective external genitalia where, in the future, inflammation and infection could develop, decreasing the complications of this disease and improving this patient's quality of life...
Subject(s)
Animals , Male , Dogs , Dogs/abnormalities , Hypospadias/veterinary , Penis/abnormalities , Perineum/abnormalities , Surgical Procedures, Operative/veterinary , Amputation, Surgical/veterinary , Foreskin , Orchiectomy/veterinaryABSTRACT
BACKGROUND:The incidence rate of cervical abnormalities of the patients with skeletal class Ⅱ and normal occlusion has been studied abroad, but the researches on the incidence of cervical abnormalities in different malocclusion patients is rare at home. OBJECTIVE:To observe the imaging of patients with cervical abnormalities and to statistics the incidence of cervical abnormalities in different malocclusion patients through analyzing the lateral cephalogram of different malocclusion patients. METHODS:Skeletal class Ⅱ group was consisted of 93 patients, 41 male (aged 18-40 years) and 52 female (aged 22-35 years), with the A point-nasion-B point angle>5°. Class Ⅰ group was consisted of 45 patients, 31 female (aged 20-36 years) and 14 male (aged 17-38 years), with the 1°
ABSTRACT
Aim: The aim of this study was to evaluate the prevalence of developmental defects of enamel in children with asthma and its relation to specific characteristics of disease such as symptom onset, asthma severity and treatment initiation in pediatric asthma patients. Materials and Methods: Children and adolescents (104 asthma patients and 104 control subjects), 7-14 years of age and residents of the city of Chennai were enrolled in the study. Medical and dental histories were obtained through the use of structured questionnaire. Each participant underwent a dental examination in which the examiner applied the modified developmental defect index. Results: The prevalence of DDE in this study was as follows: of the 104 asthma group subjects, 80 (76.9%) presented with dental enamel defects, compared with only 28 (26.9%) of those in the control group. Using multivariate logistic regression analysis, the estimated risk of DDE in permanent dentition was 12 times higher in pediatric subjects with asthma than in those without asthma (OR - 12.526, P = 0.001). The occurrence of dental enamel defects correlated with greater asthma severity (P = 0.001) and earlier symptom onset (P = 0.001). However, dental enamel defects did not correlate with the timing of the initiation of treatment (P = 0.041). Conclusion: Pediatric asthma patients with severe, early onset asthma are at increased risk of dental enamel defects and therefore require priority dental care.
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Determinar la frecuencia de fluorosis dental y anomalías en el desarrollo del esmalte: opacidades e hipoplasia del esmalte, en niños en edad escolar entre 6 y 14 años de la Escuela Básica "Fray Juan Ramos de Lora", del estado Mérida, Venezuela. Se realizó un estudio descriptivo transversal. La población estuvo constituida por 92 niños entre 6 y 14 años de edad, de la Escuela Básica "Fray Juan Ramos de Lora", del estado Mérida, Venezuela. Se tomaron en cuenta las variables fluorosis dental, opacidades e hipoplasia del esmalte, aplicando los índices según la metodología descrita por la Organización Mundial de la Salud (OMS) y la Encuesta Básica de Salud Bucodental. El 75% de los participantes no presentaron fluorosis dental, en contraste con un 1,1% que presentó fluorosis severa. El 70,7% de la población no presentó anomalías en el desarrollo del esmalte, en contraste con un 16,3% y 13,1% que presentó opacidades delimitadas y difusas respectivamente. Se evidencia que el mayor porcentaje de la población estudiada no presenta fluorosis dental ni alteraciones en el desarrollo del esmalte
To determine the frequency of dental fluorosis and developmental defects of enamel: opacities and hypoplasia in 6-14-year-old-school children from the Basic School "Fray Juan Ramos de Lora" in Mérida, Venezuela. This was a cross-sectional descriptive study. The population was constituted by 92 6-14-year-old-school children from the Basic School "Fray Juan Ramos de Lora" in Mérida, Venezuela. The variables dental fluorosis, opacities and enamel hypoplasia were taken into account by using the indexes according to the methodology described by the World Health Organization (WHO) and the Basic Survey of Dental Health. Results indicated that 75% of the participants did not show dental fluorosis in contrast to 1.1% that presented severe fluorosis. Besides, 70.7% of the population did not present developmental defects of enamel while opposite to 16.3% and 13.1% who presented delimitated and diffuse opacities, respectively. It is evident that the higher percentage of the studied population does not present dental fluorosis or developmental alterations of enamel
Subject(s)
Humans , Male , Female , Child , Adolescent , Dental Enamel , Dental Enamel Hypoplasia , Fluorosis, Dental , Pediatric DentistryABSTRACT
Epidemiologic studies suggest that intake of excess all-trans-retinoic acid (RA) during embryogenesis induces various developmental defects and the central nervous system (CNS) represents a major site of the teratogenic action of RA. It is therefore important to understand which parameters are affected early by excessive RA in order to devise and improve protective nutritional strategies. The modulations of beta-catenin and caspase-3 levels were investigated in the KM mouse embryo following maternal treatment with a single oral dose of 30mg/kg body weight of RA during the neurula period. In addition, retinoic receptors (RARs) are key transcription factors regulating gene expression in response to RA-activated signals. So the experiment was designed to evaluate whether the alterations in protein expression of RAR alpha and beta during the time of neural tube closure were induced by excessive RA. Maternal intake of excess RA induced early downregulation of RAR alpha and beta, beta-catenin and caspase-3 expression, which was followed by an increase in their expressive levels in the neural tube tissue of mouse embryos. This finding suggests that the alterations in the expression profile of RAR alpha and beta, beta-catenin and caspase-3 may be implicated in the teratogenesis induced by excess RA in KM mouse embryo.
ABSTRACT
Os autores apresentam revisão sobre defeitos de desenvolvimento do esmalte em dentes decíduos e a possibilidade de utilizá-los como marcadores biológicos, funcionando como mais um elemento na elucidação dos eventos neonatais envolvendo a prematuridade e a paralisia cerebral.
The authors present a review about developmental defects of enamel in deciduous teeth, their possible use as biological markers and potential as an additional element to elucidate neonatal events involved in prematurity and cerebral palsy.
Subject(s)
Humans , Dental Enamel/abnormalities , Dental Enamel/growth & development , Dental Enamel Hypoplasia , Biomarkers , Cerebral PalsyABSTRACT
Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of thecaudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum ofanomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.