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1.
Oral Maxillofac Surg Clin North Am ; 35(1): 127-137, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36336595

RESUMO

While primary cleft lip nasal deformity has been well described, secondary cleft lip nasal deformity reflects the combination of residual deformity that follows primary operative maneuvers and growth-related nasal distortions. Secondary cleft lip nasal deformities are further associated with underlying skeletal and dentofacial abnormalities along with soft tissue constriction adding to the complexity of the deformity and posing major aesthetic and functional challenges to the multidisciplinary care team. Definitive rhinoplasties are performed to address these deformities and improve the quality of life in cleft patients following skeletal maturity and ideally after all underlying skeletal discrepancies have been corrected by orthognathic surgery. Maxillary advancement with or without mandibular setback is often required after careful planning and orthodontic preparation. Patients with cleft lip benefit tremendously from definitive rhinoplasty irrespective of inevitable residual discrepancies that remain and adjuvant therapies could enhance the overall outcome.


Assuntos
Fenda Labial , Fissura Palatina , Cirurgia Ortognática , Rinoplastia , Humanos , Fenda Labial/cirurgia , Qualidade de Vida , Estética Dentária , Nariz/cirurgia , Nariz/anormalidades , Palato/cirurgia , Fissura Palatina/cirurgia
2.
Oral Maxillofac Surg Clin North Am ; 35(1): 115-126, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36336598

RESUMO

Orthognathic surgery is a well-recognized method to correct dentofacial deformities. The main goal of orthognathic surgery is to improve soft tissue change. Soft tissue changes to the nose have been well documented. Simultaneous rhinoplasty during orthognathic surgery can be performed to correct existing inherent nasal deformities and also the unfavorable changes that arose from the maxillary surgery. Challenges for concurrent nasal surgery with jaw surgery include preoperative, perioperative, and postoperative which can be overcome with meticulous planning and experience. In complex cases, rhinoplasty can be staged in the last 6 months after the orthognathic surgery.


Assuntos
Cirurgia Ortognática , Procedimentos Cirúrgicos Ortognáticos , Rinoplastia , Humanos , Rinoplastia/métodos , Procedimentos Cirúrgicos Ortognáticos/métodos , Nariz/anormalidades
3.
Vasc Endovascular Surg ; 57(1): 69-74, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35675973

RESUMO

This manuscript describes an endovascular repair of a symptomatic, large proximal left subclavian artery aneurysm in a patient with dextrocardia and right-sided aortic arch and absent bilateral internal carotid arteries. The patient had surgical reconstruction as an infant for congenital heart disease with Ventricular Septal Defect, bifid sternum . Given her previous surgical history, we declined an open operation and performed an endovascular repair with stent grafts to successfully repair the subclavian artery aneurysm. The patient had an uneventful postoperative course and follow-up ultrasonography demonstrated successful repair with preservation of flow through the left subclavian and vertebral arteries with resolution of her symptoms.


Assuntos
Aneurisma , Aneurisma da Aorta Torácica , Dextrocardia , Procedimentos Endovasculares , Humanos , Feminino , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/cirurgia , Artéria Subclávia/anormalidades , Aneurisma da Aorta Torácica/complicações , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/cirurgia , Resultado do Tratamento , Aneurisma/complicações , Aneurisma/diagnóstico por imagem , Aneurisma/cirurgia , Dextrocardia/complicações , Dextrocardia/diagnóstico por imagem
4.
Magn Reson Imaging Clin N Am ; 31(1): 29-41, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36368860

RESUMO

MR imaging has an important role in imaging evaluation of fallopian tube (FT) pathology, ranging from benign to malignant conditions. Congenital Mullerian anomalies of FTs such as accessory tubal ostia and unicornuate uterus and associated pathology are well assessed by MR imaging. Benign diseases include hydrosalpinx, pelvic inflammatory disease, and its manifestations including salpingitis, pyosalpinx, tubo-ovarian abscess, and tubal endometriosis manifesting as hematosalpinx. Acute benign conditions include isolated FT torsion and ectopic pregnancy. Neoplastic conditions include benign paratubal cysts to malignant primary FT carcinomas.


Assuntos
Doenças das Tubas Uterinas , Anormalidades Urogenitais , Gravidez , Feminino , Humanos , Tubas Uterinas/diagnóstico por imagem , Tubas Uterinas/anormalidades , Tubas Uterinas/patologia , Imageamento por Ressonância Magnética/métodos , Doenças das Tubas Uterinas/diagnóstico por imagem , Doenças das Tubas Uterinas/patologia , Útero/anormalidades
5.
Magn Reson Imaging Clin N Am ; 31(1): 11-28, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36368856

RESUMO

Constituting a broad spectrum of developmental abnormalities of the female genital tract, Müllerian duct anomalies (MDAs) are present in up to 7% of the general population and in up to 25% of women who present with infertility and a history of miscarriage. Imaging plays an important role in narrowing the diagnostic considerations in these patients. In this article, we review the normal embryologic development of the female genital tract followed by the MR imaging techniques and protocol recommendations to evaluate such patients. The differential diagnoses and the MR imaging features of MDAs are also reviewed.


Assuntos
Imageamento por Ressonância Magnética , Ductos Paramesonéfricos , Humanos , Feminino , Imageamento por Ressonância Magnética/métodos , Ductos Paramesonéfricos/diagnóstico por imagem , Ductos Paramesonéfricos/anormalidades , Útero/diagnóstico por imagem , Útero/anormalidades , Diagnóstico Diferencial
6.
Cardiol Clin ; 41(1): 51-69, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36368811

RESUMO

Congenital coronary anomalies are not an infrequent occurrence and their clinical presentation typically occurs during early years, though may be manifested only in adulthood. In the setting of anomalous aortic origin of a coronary artery, this is particularly concerning as it inflicts sudden loss of healthy young lives. Risk stratification remains a challenge and so does the best management decision-making in these patients, particularly if asymptomatic. Standardized approach to evaluation and management, with careful data collection and collaboration among centers, will likely impact future outcomes in this patient population, thus allowing for exercise participation and healthier lives.


Assuntos
Anomalias dos Vasos Coronários , Humanos , Adulto , Anomalias dos Vasos Coronários/diagnóstico , Anomalias dos Vasos Coronários/terapia , Anomalias dos Vasos Coronários/epidemiologia , Vasos Coronários/diagnóstico por imagem , Aorta/anormalidades
7.
Facial Plast Surg Clin North Am ; 31(1): 107-117, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36396281

RESUMO

Severe septal deviations are a constant challenge for rhinosurgeons. As the septum is the most important pillar of the nasal framework, septal deformities require correction to insure a straight nose. The septum should be on the midline without any tension to ensure a correct healing of the external nasal pyramid. In certain cases, the association of a correct septoplasty and dorsal preservation allows the treatment of the crooked nose and at the same time gives natural results with rapid postoperative recovery. The aim of this article was to underline the versatility of the dorsal preservation technique for the correction of severe septal deviation.


Assuntos
Deformidades Adquiridas Nasais , Rinoplastia , Humanos , Septo Nasal/cirurgia , Septo Nasal/anormalidades , Deformidades Adquiridas Nasais/cirurgia , Rinoplastia/métodos , Cicatrização
9.
Arch. pediatr. Urug ; 93(2): e310, dic. 2022. ilus
Artigo em Espanhol | LILACS, BNUY, UY-BNMED | ID: biblio-1383656

RESUMO

Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.


Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.


Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.


Assuntos
Humanos , Feminino , Recém-Nascido , Anormalidades Múltiplas/diagnóstico por imagem , Obstrução Nasal/diagnóstico por imagem , Constrição Patológica/diagnóstico por imagem , Síndrome , Anormalidades Múltiplas/patologia , Obstrução Nasal/cirurgia , Holoprosencefalia/diagnóstico por imagem , Incisivo/anormalidades , Anodontia/complicações
10.
Clin Perinatol ; 49(4): 965-979, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36328611

RESUMO

Anorectal malformations occur in 1 in 3000 to 5000 children, and present with a marked variety in type and severity. Most of the malformations are diagnosed in the early neonatal period, as an antenatal diagnosis remains relatively elusive. Following diagnosis, an accurate assessment and focused management is crucial to reduce the potential for morbidity and mortality. This review focuses on the investigation and management of newborns with anorectal malformations, and the introduction of novel assessment tools for the more complex malformation types.


Assuntos
Malformações Anorretais , Criança , Recém-Nascido , Feminino , Humanos , Gravidez , Malformações Anorretais/diagnóstico , Malformações Anorretais/terapia , Parto , Diagnóstico Pré-Natal , Morbidade , Reto/diagnóstico por imagem , Canal Anal/anormalidades
11.
Clin Perinatol ; 49(4): 849-862, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36328603

RESUMO

The most severe forms of congenital anomalies of the kidney and urinary tract present in fetal life with early pregnancy renal anhydramnios and are considered lethal due to pulmonary hypoplasia without fetal therapy. Due to the high rate of additional structural anomalies, genetic abnormalities, and associated syndromes, detailed anatomic survey and genetic testing are imperative when stratifying which pregnancies are appropriate for fetal intervention. Restoring amniotic fluid around the fetus is the principal goal of prenatal treatment. The ongoing multi-center Renal Anhydramnios Fetal Therapy (RAFT) trial is assessing the safety and efficacy of serial amnioinfusions to prevent pulmonary hypoplasia so that the underlying renal disease can be addressed.


Assuntos
Terapias Fetais , Oligo-Hidrâmnio , Gravidez , Feminino , Humanos , Oligo-Hidrâmnio/terapia , Rim/anormalidades , Líquido Amniótico , Parto Obstétrico , Ultrassonografia Pré-Natal
12.
Clin Perinatol ; 49(4): 907-926, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36328607

RESUMO

Congenital lung malformations represent a spectrum of lesions, each with a distinct cause and tailored clinical approach. This article will focus on the following malformations: congenital pulmonary airway malformations, formally known as congenital cystic adenomatoid malformations, bronchopulmonary sequestration, congenital lobar emphysema, and bronchogenic cyst. Each of these malformations will be defined and examined from an embryologic, pathophysiologic, and clinical management perspective unique to that specific lesion. A review of current recommendations in both medical and surgical management of these lesions will be discussed as well as widely accepted treatment algorithms.


Assuntos
Sequestro Broncopulmonar , Malformação Adenomatoide Cística Congênita do Pulmão , Pneumopatias , Enfisema Pulmonar , Anormalidades do Sistema Respiratório , Humanos , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Sequestro Broncopulmonar/diagnóstico por imagem , Sequestro Broncopulmonar/cirurgia , Enfisema Pulmonar/cirurgia , Enfisema Pulmonar/congênito , Anormalidades do Sistema Respiratório/diagnóstico , Anormalidades do Sistema Respiratório/cirurgia , Pulmão/anormalidades
13.
Clin Perinatol ; 49(4): 943-953, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36328609

RESUMO

The 2 most common congenital abdominal wall defects are gastroschisis and omphalocele. Gastroschisis is a defect in the abdominal wall with exposed abdominal contents. Mortality rates are low but lengths of stay are often prolonged by bowel dysmotility and other intestinal abnormalities in complicated cases. Omphalocele is a defect through the umbilical cord with herniated abdominal contents covered by a sac. It is associated with other genetic abnormalities and other anomalies that can lead to significant morbidity and mortality. Prenatal diagnosis in both conditions allows for improved prenatal consultation and coordinated perinatal care to improve clinical outcomes.


Assuntos
Parede Abdominal , Gastrosquise , Hérnia Umbilical , Gravidez , Feminino , Humanos , Gastrosquise/diagnóstico , Gastrosquise/cirurgia , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/cirurgia , Parede Abdominal/anormalidades , Diagnóstico Pré-Natal , Intestinos
14.
Acta Vet Scand ; 64(1): 29, 2022 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-36397093

RESUMO

BACKGROUND: An ectopic ureter is a congenital malformation characterized by caudal displacement of one or both ureteral orifices and is the most common cause of urinary incontinence in young dogs. Complete resolution of incontinence after surgery has been reported in 25-82% of dogs. The aim of this study was to identify preoperative prognostic factors for continence after surgical treatment of dogs with an ectopic ureter. Dogs were included if surgical correction of an ectopic ureter was performed and at least 1 year follow-up was available. RESULTS: Fifty-one dogs met the inclusion criteria. The ectopic ureters were either intramural (91%) or extramural (9%). The ectopic ureters were bilateral in 49% of cases. Overall median follow-up time after surgery was 6.5 years (range 1-13 years). Surgical correction alone resolved urinary incontinence in 47% of cases. Low grade pre-operative incontinence, male sex and pre-operative presence of ureteral or renal pyelum dilation were significantly associated with urinary continence after surgery. CONCLUSIONS: Dogs with severe preoperative incontinence were less likely to become completely continent after surgery, whereas male sex and preoperative dilation of the ureter or renal pyelum were positive prognostic indicators for continence. These results may assist in predicting outcome after surgical correction of ectopic ureters and suggest assessment of pre-operative urethral pressure profiling in future studies.


Assuntos
Doenças do Cão , Ureter , Incontinência Urinária , Cães , Masculino , Animais , Ureter/cirurgia , Ureter/anormalidades , Seguimentos , Prognóstico , Doenças do Cão/cirurgia , Doenças do Cão/etiologia , Incontinência Urinária/etiologia , Incontinência Urinária/cirurgia , Incontinência Urinária/veterinária
15.
Acta Clin Croat ; 61(1): 145-148, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36398088

RESUMO

Left-sided inferior vena cava (IVC) is a rare congenital venous anomaly that is most frequently detected incidentally during abdominal computer tomography scanning. However, as in the case presented, the first clinical manifestation of this anomaly may be deep venous thrombosis (DVT) of lower extremities. Therefore, left-sided IVC should be kept in mind in case of inferior DVT, especially in young patients with no predisposing thrombotic risk factors.


Assuntos
Malformações Vasculares , Trombose Venosa , Humanos , Veia Cava Inferior/diagnóstico por imagem , Veia Cava Inferior/anormalidades , Trombose Venosa/complicações , Trombose Venosa/diagnóstico por imagem , Extremidade Inferior , Tomografia Computadorizada por Raios X
16.
BMJ Case Rep ; 15(11)2022 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-36384884

RESUMO

Pulmonary arteriovenous malformations (PAVMs) are rare and often asymptomatic vascular anomalies that can be associated with serious neurological consequences due to right-to-left shunting. We report a case of a woman in her 80s without substantial medical history who presented with a headache, weakness and personality changes, and was found to have a pyogenic brain abscess requiring emergent neurosurgical evacuation. The abscess grew oral flora, suspected to have reached the brain via an incidentally discovered PAVM. With drainage and antibiotics, the patient achieved a full recovery and the PAVM was embolised. To our knowledge, this is the oldest presentation of a PAVM-associated brain abscess in the published literature. Older patients may present without the typical signs and symptoms of a given illness, which complicates accurate diagnosis and treatment. Primary care physicians can help facilitate timely care and positive clinical outcomes.


Assuntos
Fístula Arteriovenosa , Malformações Arteriovenosas , Abscesso Encefálico , Veias Pulmonares , Feminino , Humanos , Fístula Arteriovenosa/complicações , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/cirurgia , Abscesso Encefálico/complicações , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/anormalidades , Idoso de 80 Anos ou mais
17.
Sci Rep ; 12(1): 19921, 2022 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-36402859

RESUMO

Xenopus provides a simple and efficient model system to study nephrogenesis and explore the mechanisms causing renal developmental defects in human. Hnf1b (hepatocyte nuclear factor 1 homeobox b), a gene whose mutations are the most commonly identified genetic cause of developmental kidney disease, is required for the acquisition of a proximo-intermediate nephron segment in Xenopus as well as in mouse. Genetic networks involved in Hnf1b expression during kidney development remain poorly understood. We decided to explore the transcriptional regulation of Hnf1b in the developing Xenopus pronephros and mammalian renal cells. Using phylogenetic footprinting, we identified an evolutionary conserved sequence (CNS1) located several kilobases (kb) upstream the Hnf1b transcription start and harboring epigenomic marks characteristics of a distal enhancer in embryonic and adult renal cells in mammals. By means of functional expression assays in Xenopus and mammalian renal cell lines we showed that CNS1 displays enhancer activity in renal tissue. Using CRISPR/cas9 editing in Xenopus tropicalis, we demonstrated the in vivo functional relevance of CNS1 in driving hnf1b expression in the pronephros. We further showed the importance of Pax8-CNS1 interaction for CNS1 enhancer activity allowing us to conclude that Hnf1b is a direct target of Pax8. Our work identified for the first time a Hnf1b renal specific enhancer and may open important perspectives into the diagnosis for congenital kidney anomalies in human, as well as modeling HNF1B-related diseases.


Assuntos
Nefropatias , Rim , Humanos , Adulto , Camundongos , Animais , Fator 1-beta Nuclear de Hepatócito/genética , Filogenia , Rim/anormalidades , Nefropatias/genética , Sequências Reguladoras de Ácido Nucleico , Xenopus/genética , Xenopus laevis/genética , Mamíferos/genética , Fator de Transcrição PAX8/genética
18.
J Cardiothorac Surg ; 17(1): 283, 2022 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-36345018

RESUMO

Anomalous aortic origin of the right coronary artery is a rare disease. Although there are various reports on its treatment, the method of the surgical approach is still controversial. Here, we present a rare case of a 17 year-old man who had an anomalous aortic origin of the right coronary artery with an aberrant right subclavian artery. As a treatment, he underwent reimplantation of the right coronary artery. The surgical approach for the anomalous aortic origin of the right coronary artery should be selected by considering the age of the patient and size of the right coronary artery.


Assuntos
Anormalidades Cardiovasculares , Anomalias dos Vasos Coronários , Masculino , Humanos , Adolescente , Vasos Coronários/diagnóstico por imagem , Vasos Coronários/cirurgia , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/cirurgia , Artéria Subclávia/anormalidades , Anormalidades Cardiovasculares/complicações , Anormalidades Cardiovasculares/diagnóstico por imagem , Anormalidades Cardiovasculares/cirurgia , Reimplante , Anomalias dos Vasos Coronários/cirurgia
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