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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
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.
Andrologia ; 54(11): e14627, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36349681

RESUMO

Genitourinary anomalies constitute a large proportion of congenital malformations. However seminal tract anomalies, particularly ejaculatory duct (ED) anomalies are very rare and little information exists on the topic. We are reporting a very rare case of bilateral ectopic EDs opening in the bladder trigone in a 33-year-old gentleman presenting for evaluation for primary infertility. The patient's semen analysis showed low-ejaculate-volume, fructose negative, acidic pH and azoospermia. His hormonal profile was normal. Cystoscopy revealed an empty posterior urethra, and the verumontanum and the openings of the EDs could not be identified in the posterior urethra. The ED openings were found inside the bladder trigone. Vasography combined with cystoscopy confirmed the opening of the ED in the trigone following Intra-vasal injection of methylene blue. Our patient had a successful intracytoplasmic sperm injection using testicular spermatozoa that resulted in a healthy baby boy. We also did a formal literature review through PUBMED, MEDLINE and Google Scholar with the search term (ectopic ED). Search results were filtered to exclude vas deferens ectopia. Our literature search revealed five studies comprising 24 patients with ectopic EDs. Mean age at diagnosis was 29.88 ± 12.88 years. The most common presenting symptom was hemospermia. The ectopic EDs most commonly opened in a midline cyst (21 cases), bladder trigone (1 case), or bladder neck (1 case). The most common management used for symptomatic patients with ectopic EDs opening in the midline cyst was through transurethral fenestration. In conclusion, ectopic ED openings in the bladder trigone are very rare. Management varies by case depending on the presentation, anatomy of underlying anomaly, associated complication/s and desire for fertility.


Assuntos
Azoospermia , Cistos , Infertilidade Masculina , Humanos , Masculino , Adolescente , Adulto Jovem , Adulto , Ductos Ejaculatórios/diagnóstico por imagem , Ductos Ejaculatórios/anormalidades , Bexiga Urinária/diagnóstico por imagem , Sêmen , Azoospermia/complicações , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/etiologia
12.
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
13.
Neurol India ; 70(Supplement): S149-S159, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36412362

RESUMO

Background: Vertebral artery dissection (VAD) is a treatable cause of vertebrobasilar ischemic stroke and can be spontaneous or more commonly traumatic. Craniovertebral junction (CVJ) anomalies are a rare and often overlooked cause of VAD. Objective: The objective of this study was to study cases where CVJ anomaly presented as posterior circulation infarct and to conduct a relevant literature review. Materials and Methods: The medical records of seven patients who were managed for posterior circulation infarct associated with CVJ anomaly at our center from January 2009 through August 2013 were reviewed. PubMed and MEDLINE databases were also searched for similar cases, and the published case reports/series were reviewed. Results: Seven patients met our inclusion criteria and were included in the study. The mean age was 17.4 years (range: 10-35 years). All the patients were males. The most common symptoms were headache, vomiting, and gait ataxia. Slurring of speech was seen in one patient. One patient had repeated episodes of gait ataxia with left-sided weakness with complete recovery in between the episodes. One patient presented in unconscious state. Four patients complained of vertigo. The median duration of symptoms was 7 days (range: 3 days-12 months). Conclusions: CVJ anomalies can present as posterior circulation infarct. One must evaluate all patients with posterior circulation stroke, especially young patients, for possible CVJ anomalies. Dynamic lateral cervical spine X-ray is an important tool to diagnose AAD. CVJ anomalies represent a treatable cause of VAD.


Assuntos
Articulação Atlantoaxial , Acidente Vascular Cerebral , Dissecação da Artéria Vertebral , Masculino , Humanos , Adolescente , Feminino , Articulação Atlantoaxial/anormalidades , Marcha Atáxica/complicações , Dissecação da Artéria Vertebral/diagnóstico , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem , Infarto/complicações
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.
South Med J ; 115(11): 818-823, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36318947

RESUMO

OBJECTIVE: The objective of our study was to determine whether recommended assessments were conducted on stillbirths delivered in our predominantly rural state. METHODS: This was a descriptive study of stillbirths delivered in a rural state and included in one site of the Birth Defects Study to Evaluate Pregnancy Exposures stillbirth study. Hospital and fetal death records were examined to determine whether the following areas were evaluated: genetic testing (noninvasive perinatal testing, quad screen, amniocentesis/chorionic villus sampling with karyotype, microarrays, fetal tissue specimen), placenta/membrane/cord sent for pathologic examination, examination of the stillbirth after delivery by the healthcare provider, and fetal autopsy was performed. RESULTS: From July 1, 2015 to June 30, 2020, there were 1108 stillbirths delivered in Arkansas. The most frequent assessments undertaken were placental pathology (72%), genetic testing (67%), fetal inspection (31%), and autopsy (13%). All four assessments were done in 2% of stillbirth cases, three assessments in 27%, two assessments in 47%, one assessment in 14%, and no assessment in 15%. There was no association between stillbirth assessment evaluation by gestational age (<28 weeks and > 28 weeks; P = 0.221); however, there was an overall association between hospital delivery volume with number of components completed (P < 0.0001). Hospitals with >2000 deliveries had a higher proportion of three or four completions compared with those hospitals with <1000 deliveries or 1000 to 2000 deliveries (P = 0.021 and P < 0.0001). CONCLUSIONS: Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (<28 weeks vs >28 weeks), but there is a correlation between delivery volume and stillbirth assessment.


Assuntos
Placenta , Natimorto , Feminino , Gravidez , Humanos , Lactente , Placenta/anormalidades , Morte Fetal , Autopsia , Idade Gestacional
17.
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
18.
Medicina (Kaunas) ; 58(11)2022 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-36363578

RESUMO

Patent urachus is a type of urachal anomaly in which the urachus does not tail off but remains connected to the bladder in the umbilicus. The prevalence of patent urachus is very low. Herein, we report a case of patent urachus ruptured and exposed to amniotic fluid in utero. In this case, the size decreased after the second trimester, which was thought to be due to rupture in utero. After delivery, patent urachus was confirmed by inserting a foley catheter, which runs through a ruptured cyst on umbilical cord insertion. The day after delivery, the neonate underwent surgical excision of the urachal cyst and closing umbilicus. The mechanism of patent urachus rupture is unknown. As the fetus matures, it is thought that the higher intravesical pressure may affect the rupture of the cyst. Patent urachus could be ruptured in the uterus spontaneously, and surgical correction is needed. Therefore, prenatal differential diagnosis is important.


Assuntos
Cisto do Úraco , Úraco , Recém-Nascido , Gravidez , Feminino , Humanos , Úraco/cirurgia , Úraco/anormalidades , Úraco/diagnóstico por imagem , Cisto do Úraco/cirurgia , Segundo Trimestre da Gravidez , Bexiga Urinária/anormalidades , Ultrassonografia Pré-Natal
19.
Ann Diagn Pathol ; 61: 152059, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36343605

RESUMO

OBJECTIVE: The aim was to evaluate the main indications for prenatal diagnosis, the prevalence of abnormal copy number variations (CNVs), correlate them with clinical findings, analyze the prevalence of VUS, report the rare variants found and additionally highlight the clinical importance of microarray-based comparative genomic hybridization (aCGH) in prenatal diagnosis. STUDY DESIGN: We retrospectively analyzed a cohort of 772 fetuses with indication for genetic study in two tertiary hospitals, in a 9-years-period, using aCGH. RESULTS: Our results demonstrated 8.3 % (6.4-10.5 %, 95 % CI) detection rate of pathogenic CNVs. Within this group, the main indication was structural malformations (57 %) mainly involving central nervous system, skeletal and cardiac systems. Pathogenic results in cases with multiple malformations were higher than in cases with isolated anatomical system malformations showing statistical significant differences (p < 0.001). The second indication where we found more pathogenic CNVs was increased nuchal translucency (5-6.4 mm). In fact, the rate of pathogenic CNVs did not show significant differences between structural and non-structural malformations (p > 0.001), highlighting the relevance of genetic study by aCGH also in cases with no structural malformations. A total of 217 fetuses with CNVs classified as VUS were identified, mainly involving chromosomes X, 1 and 16. CONCLUSION: Our findings demonstrate 4.9 % (4.2-5.6 %, 95 % CI) increased in the diagnostic yield using aCGH compared to the use of conventional karyotype alone, confirming that the aCGH can improve the accuracy of prenatal diagnosis. Our survey provides a full genotype-phenotype analysis that can be clinically useful for the classification of variants in the context of prenatal setting, helping to provide a better reproductive genetic counselling.


Assuntos
Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Gravidez , Feminino , Humanos , Hibridização Genômica Comparativa/métodos , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Feto/anormalidades , Estudos de Associação Genética
20.
Rom J Morphol Embryol ; 63(2): 395-406, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36374144

RESUMO

Because the circle of Willis (CoW) supplies blood to the brain in case of occlusion of one of the cerebral arteries, identification of any change in its classical shape could be useful in the assessment of cerebrovascular morbidity. The purpose of our research was to study the anatomical variants of CoW identified on fresh brains obtained at the clinical autopsies of adult deceased patients belonging to a specific population (Northeastern region of Romania), as no data are available for Romania population up to date. The study group included consecutive patients who died in Prof. Dr. Nicolae Oblu Emergency Clinical Hospital, Iasi, Romania, due to medical causes between January 1, 2014 and June 30, 2016, to whom a clinical autopsy was performed. From a total of 96 circles of Willis, 29.17% presented an atypical morphology. We identified eight types of anatomical variants, which affected simultaneously both the posterior and the anterior parts of CoW in 46.42% of cases. The most frequent anatomical variants were hypoplasia (20.91%), followed by the absence of an artery (3.06%), and partially fetal type artery (2.04%). 67.86% of atypical CoW exhibited more than one anatomical variant of an artery in one circle. We identified nine of the 23 morphological patterns that were published to date, and also nine new types. Our research proved that in the population living in the Northeastern part of Romania the anatomical variations of circles of Willis are very polymorphic, with particular morphological aspects.


Assuntos
Encéfalo , Círculo Arterial do Cérebro , Círculo Arterial do Cérebro/anormalidades , Autopsia , Romênia
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