Congenital Abnormalities
Mostrando 13-24 de 350 artigos, teses e dissertações.
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13. Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report
Resumo A pentalogia de Cantrell (PC) é uma rara anomalia congênita caracterizada por alterações nas estruturas medianas mesodérmicas e doenças cardíacas congênitas, cursando muitas vezes com um mau prognóstico. Em 1958, Cantrell et al2 definiram o espectro completo da síndrome com as seguintes anomalias: defeitos do diafragma anterior, da parte inf
Rev. Bras. Ginecol. Obstet.. Publicado em: 27/06/2019
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14. Heterotaxy syndrome with agenesis of dorsal pancreas and diabetes mellitus: case report and review of the literature
SUMMARY Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial heritance, characterized by an abnormal arrangement of thoraco-abdominal organs and vessels. Patients present with multiple cardiac, gastrointestinal, hepatosplenic, pancreatic, renal, neurological and skeletal disorders without any pathognomonic alteration. Despite the descr
Arch. Endocrinol. Metab.. Publicado em: 30/05/2019
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15. WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities
RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit inte
Arq. Bras. Oftalmol.. Publicado em: 20/05/2019
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16. Left ventricular noncompaction in a Para athlete
RESUMO O miocárdio não compactado é uma cardiomiopatia congênita caracterizada pela presença de trabeculações anormais no ventrículo esquerdo. O presente estudo descreve o caso de uma paratleta de goalball, 14 anos, sexo feminino, assintomática, com história pessoal de nistagmo congênito e leve deficiência visual, que apresentou alterações elet
Einstein (São Paulo). Publicado em: 09/05/2019
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17. The Relationship between the Etiology of Profound Prelingual Sensorineural Hearing Loss and the Results of Vestibular-Evoked Myogenic Potentials
Abstract Introduction Cervical vestibular-evoked myogenic potentials (cVEMPs) are biphasic, short latency potentials, which represent the inhibition of the contraction of the sternocleidomastoid muscle (SCM) mediated by the saccule, the inferior vestibular nerve, the vestibular nuclei and the medial vestibular spinal tract. Objective To evaluate the resp
Int. Arch. Otorhinolaryngol.. Publicado em: 25/04/2019
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18. The importance of the early diagnosis of aorta coarctation
RESUMO INTRODUÇÃO: A coarctação da aorta é uma cardiopatia congênita caracterizada por um estreitamento que ocorre na artéria aorta. Essa constrição pode ocorrer em qualquer local ao longo de toda a sua extensão, entretanto, é mais comum entre a origem da artéria subclávia esquerda e o ducto arterioso. Sua incidência corresponde a três casos
Rev. Assoc. Med. Bras.. Publicado em: 2019-02
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19. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Abstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecu
Genet. Mol. Biol.. Publicado em: 19/02/2018
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20. Magnetic resonance imaging and clinical findings in seminal vesicle pathologies
ABSTRACT Purpose Congenital and acquired pathologies of the seminal vesicles (SV) are rare diseases. The diagnosis of SV anomalies is frequently delayed or wrong due to the rarity of these diseases and the lack of adequate evaluation of SV pathology. For this reason, we aimed to comprehensively evaluate SV pathologies and accompanying genitourinary system a
Int. braz j urol.. Publicado em: 2018-02
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21. Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagno
Clinics. Publicado em: 2017-09
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22. Prevalence of Café-au-Lait Spots in children with solid tumors
Abstract Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually are present as a solitary spot. Multiple CALMs are present in a smaller fraction of the population and are usually associated with other congenital anomalies as part of many syndromes. Most of these syndromes carry an increased risk of cancer development. Previous studies hav
Genet. Mol. Biol.. Publicado em: 24/05/2016
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23. Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ABSTRACT Objective Increased arterial intima-media thickness has been observed in adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). CAH has also been associated with obesity, insulin resistance, and hypertension. The aim of the present study was to compare youths with CAH with healthy, normal-weight individuals, ev
Arch. Endocrinol. Metab.. Publicado em: 2015-12
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24. First case of congenital idiopathic hypohidrosis in China
AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm
An. Bras. Dermatol.. Publicado em: 2015-10