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1.
Radiol Case Rep ; 19(6): 2097-2099, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38645543

RESUMO

This is a novel case of spontaneous subclavian artery dissection presenting with an asymptomatic right Horner Syndrome, highlighting both the importance of carefully evaluating the pupils on comprehensive exam, and also the subclavian arteries when assessing for the cause of Horner Syndrome. This original case serves as a caution for practitioners not to overlook the subclavian arteries in the search for the cause of Horner Syndrome. While rare, spontaneous subclavian artery dissection can occur, and carries a risk of morbidity and mortality that must be mitigated. We present a case of asymptomatic, atraumatic right Horner Syndrome where a spontaneous right subclavian artery dissection was found to be the source. It was managed with aspirin therapy and the patient has not suffered any subsequent cardiovascular events related to the dissection. Careful angiographic evaluation of the subclavian arteries should be included in the workup for Horner Syndrome to assess for subclavian artery dissection.

2.
Ann Surg ; 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38647147

RESUMO

OBJECTIVE/ SUMMARY BACKGROUND DATA: We propose the first classification scheme for macroglossia in patients with Beckwith-Wiedemann Syndrome (BWS), the BWS Index of macroGlossia (BIG). METHODS: Patients with molecularly confirmed BWS seen from 2004-2023 were included to develop this system. Relationships among BIG scores, tongue reduction surgery, BWS clinical score, percent mosaicism, and polysomnography findings were examined. RESULTS: Patients were classified from BIG0 to BIG3. BIG0 includes those without macroglossia; BIG1 includes those with macroglossia not protruding beyond the teeth/alveolus; BIG2 includes those with tongue protrusion past the teeth/alveolus to the lips but that can be contained within the mouth; and BIG3 includes those with tongues that protrude beyond the teeth/alveolus and lips but that cannot be closed within the mouth. Of the 459 patients with molecularly confirmed BWS, 266 (58.0%) patients were scored. One hundred and eleven (41.7%) were BIG0, 44 (16.5%) were BIG1, 90 (33.8%) were BIG2, and 21 (7.9%) were BIG3. As scores increased, patients had an increased incidence of tongue reduction surgery (BIG0: 0% versus BIG1: 20.5% versus BIG2: 51.1% versus BIG3: 100%; r=0.66, P <0.01). Higher BIG scores were associated with elevated BWS clinical scores (r=0.68, P <0.01) and increased tissue mosaicism (r=0.50, P <0.01) as well as trends towards worse obstructive apnea-hypopnea indices (r=0.29, P =0.02) and lower SpO 2 nadirs (r=-0.29, P =0.02). CONCLUSION: In this large series of patients with Beckwith-Wiedemann Syndrome, increased BIG score correlates with undergoing tongue reduction surgery and increased phenotypic severity. Adoption of the BIG scoring system may facilitate communication and risk stratification across institutions.

3.
Plast Reconstr Surg ; 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38507550

RESUMO

INTRODUCTION: Most patients with Beckwith-Wiedemann syndrome (BWS) have macroglossia with some requiring tongue reduction surgery (TRS). This study reports correlations between levels of affected cells (mosaicism) and BWS clinical score in patients evaluated for TRS. We also show correlations of clinical score and mosaicism with obstructive sleep apnea (OSA) severity. METHODS: Blood mosaicism levels and BWS clinical score were recorded in patients with macroglossia referred to plastic surgery for evaluation. Associations among blood mosaicism, BWS clinical score, TRS, and OSA were assessed with appropriate statistics. RESULTS: Of the 225 patients included, BWS blood testing was available in 128 (56.9%). Mosaicism levels were higher in those who underwent TRS compared to those who did not (85.9 85.9 (56.5-95.9)% vs. 29.7 (2.8-73.1)%, p<0.001). BWS clinical score was also higher in those requiring TRS (9.0 (8.0-11.0) versus 7.0 (6.0-9.0), p<0.001). There was a positive correlation between clinical score and obstructive apnea-hypopnea index (r=0.320, p=0.011). Receiver operating characteristic curve analysis showed a clinical score ≥11 had 100% specificity and 36.4% sensitivity for detecting patients requiring TRS. Blood mosaicism ≥80% had 63.6% sensitivity and 83.6% specificity for predicting surgery. A combined criteria of BWS clinical score ≥11 or mosaicism ≥80% had 72.7% sensitivity and 83.6% specificity for predicting TRS. CONCLUSION: Blood mosaicism levels and higher BWS clinical scores appear associated with a greater frequency of having surgery in patients with macroglossia referred for surgical evaluation. Elevations in BWS clinical scoring are associated with increased OSA severity while increased blood mosaicism is not.

4.
Comput Struct Biotechnol J ; 23: 892-904, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38370976

RESUMO

Next-generation genome sequencing has revolutionized genetic testing, identifying numerous rare disease-associated gene variants. However, to impute pathogenicity, computational approaches remain inadequate and functional testing of gene variant is required to provide the highest level of evidence. The emergence of AlphaFold2 has transformed the field of protein structure determination, and here we outline a strategy that leverages predicted protein structure to enhance genetic variant classification. We used the gene IRF6 as a case study due to its clinical relevance, its critical role in cleft lip/palate malformation, and the availability of experimental data on the pathogenicity of IRF6 gene variants through phenotype rescue experiments in irf6-/- zebrafish. We compared results from over 30 pathogenicity prediction tools on 37 IRF6 missense variants. IRF6 lacks an experimentally derived structure, so we used predicted structures to explore associations between mutational clustering and pathogenicity. We found that among these variants, 19 of 37 were unanimously predicted as deleterious by computational tools. Comparing in silico predictions with experimental findings, 12 variants predicted as pathogenic were experimentally determined as benign. Even with the recently published AlphaMissense model, 15/18 (83%) of the predicted pathogenic variants were experimentally determined as benign. In comparison, mapping variants to the protein revealed deleterious mutation clusters around the protein binding domain, whereas N-terminal variants tend to be benign, suggesting the importance of structural information in determining pathogenicity of mutations in this gene. In conclusion, incorporating gene-specific structural features of known pathogenic/benign mutations may provide meaningful insights into pathogenicity predictions in a gene-specific manner and facilitate the interpretation of variant pathogenicity.

5.
Plast Reconstr Surg ; 153(2): 277-287, 2024 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-37141449

RESUMO

BACKGROUND: Nipple-sparing mastectomy is commonly performed for breast cancer treatment or prevention. The authors present one of the largest breast reconstruction series in the literature. METHODS: A single-institution retrospective review was conducted from 2007 to 2019. RESULTS: The authors' query identified 3035 implant-based breast reconstructions after nipple-sparing mastectomy, including 2043 direct-to-implant and 992 tissue expander-to-implant reconstructions. The overall major complication rate was 9.15%, and the nipple necrosis rate was 1.20%. Therapeutic mastectomy was associated with higher overall complications and explantations compared with prophylactic mastectomy ( P < 0.01). In comparisons of unilateral and bilateral procedures, bilateral mastectomy had an increased risk for complications (OR, 1.46; 95% CI, 0.997 to 2.145; P = 0.05). Tissue-expander reconstructions had higher rates of nipple necrosis (1.9% versus 0.88%; P = 0.015), infection (4.2% versus 2.8%; P = 0.04), and explantation (5.1% versus 3.5%; P = 0.04) compared with direct-to-implant reconstruction. When assessing plane of reconstruction, the authors found similar rates of complications between subpectoral dual-plane and prepectoral reconstruction. There was no difference in complications between reconstruction with acellular dermal matrix or mesh compared with total or partial muscle coverage without acellular dermal matrix/mesh (OR, 0.749; 95% CI, 0.404 to 1.391; P = 0.361). Multivariable regression analysis revealed preoperative radiotherapy (OR, 2.465; 95% CI, 1.579 to 3.848; P < 0.001), smoking (OR, 2.53; 95% CI, 1.581 to 4.054; P < 0.001), and a periareolar incision (OR, 3.657; 95% CI, 2.276 to 5.875; P < 0.001) to be the strongest predictors of complications and nipple necrosis ( P < 0.05). CONCLUSIONS: Nipple-sparing mastectomy and immediate breast reconstruction has a low rate of complications. In this series, radiation therapy, smoking, and incision choice predicted overall complications and nipple necrosis, whereas direct-to-implant reconstruction and acellular dermal matrix or mesh did not increase risk. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Assuntos
Implantes de Mama , Neoplasias da Mama , Mamoplastia , Humanos , Feminino , Mastectomia/efeitos adversos , Neoplasias da Mama/etiologia , Mamilos/cirurgia , Mamoplastia/efeitos adversos , Mamoplastia/métodos , Estudos Retrospectivos , Necrose/epidemiologia , Necrose/etiologia , Necrose/cirurgia
6.
bioRxiv ; 2023 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-37986847

RESUMO

Wnt signaling plays a crucial role in the early embryonic patterning and development, to regulate convergent extension during gastrulation and the establishment of the dorsal axis. Further, Wnt signaling is a crucial regulator of craniofacial morphogenesis. The adapter proteins Dact1 and Dact2 modulate the Wnt signaling pathway through binding to Disheveled, however, the distinct relative functions of Dact1 and Dact2 during embryogenesis remain unclear. We found that dact1 and dact2 genes have dynamic spatiotemporal expression domains that are reciprocal to one another and to wnt11f2l, that suggest distinct functions during zebrafish embryogenesis. We found that both dact1 and dact2 contribute to axis extension, with compound mutants exhibiting a similar convergent extension defect and craniofacial phenotype to the wnt11f2 mutant. Utilizing single-cell RNAseq and gpc4 mutant that disrupts noncanonical Wnt signaling, we identified dact1/2 specific roles during early development. Comparative whole transcriptome analysis between wildtype, gpc4 and dact1/2 mutants revealed a novel role for dact1/2 in regulating the mRNA expression of the classical calpain capn8. Over-expression of capn8 phenocopies dact1/2 craniofacial dysmorphology. These results identify a previously unappreciated role of capn8 and calcium-dependent proteolysis during embryogenesis. Taken together, our findings highlight the distinct and overlapping roles of dact1 and dact2 in embryonic craniofacial development, providing new insights into the multifaceted regulation of Wnt signaling.

7.
Plast Reconstr Surg ; 2023 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-37797235

RESUMO

INTRODUCTION: Macroglossia is a cardinal feature of Beckwith-Wiedemann syndrome (BWS) with a clinical spectrum where the indication and timing for surgery remain to be validated. This study leverages a cohort of molecularly characterized patients with BWS to correlate epigenetic diagnosis with phenotype and treatment outcome. METHODS: Patients with BWS seen in consultation for macroglossia from 2009-2022 were reviewed for phenotype, molecular diagnosis, tongue reduction status, timing of surgery (early = under 12 months), and perioperative complications. RESULTS: Two hundred thirty-seven patients were included. Imprinting control region 2 loss of methylation (IC2 LOM) was the most common epigenotype (61%). Paternal uniparental isodisomy for chromosome 11 (pUPD11) comprised a larger proportion of patients undergoing tongue reduction (18%) than those not undergoing surgery (8%, p = 0.024) and was associated with need for repeat surgery (OR 4.49, 95% CI 1.06-18.98, p = 0.041). Complications including wound dehiscence, ventilator associated pneumonia, and unplanned extubation were more common in patients undergoing early surgery (20%) than late surgery (4%, OR 5.70, 95% CI 1.14-28.55, p = 0.034). CONCLUSIONS: This study presents one of the largest cohorts correlating molecular diagnosis with clinical course of macroglossia treatment in BWS. Macroglossia in patients with pUPD11 is associated with higher rates of reoperation. Relief of obstructive sleep apnea with early tongue reduction must be weighed against risk of perioperative complications, most of which are non-surgical. This study highlights how molecular diagnosis advances clinical care by risk stratifying clinical outcomes in a center providing integrated multidisciplinary care for the BWS population.

8.
Clin Nucl Med ; 48(11): 963-964, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37703479

RESUMO

ABSTRACT: Prostate-specific membrane antigen (PSMA) PET/CT has proven to be effective in the evaluation of prostate cancer and has become increasingly used clinically as multiple radiopharmaceuticals have become commercially available. With increasing use, incidental uptake from a variety of nononcologic processes will be encountered and considered interpretive pitfalls. We outline a case of a 71-year-old man who underwent imaging with PSMA PET/CT, which demonstrated uptake in the left parietal-temporal junction that was shown to be a subacute stroke. This case demonstrates a reported cause of uptake on PSMA PET for which the underlying mechanism is not yet well understood.


Assuntos
Neoplasias da Próstata , Acidente Vascular Cerebral , Masculino , Humanos , Idoso , Compostos Radiofarmacêuticos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Oligopeptídeos/metabolismo , Acidente Vascular Cerebral/diagnóstico por imagem , Transporte Biológico , Neoplasias da Próstata/diagnóstico por imagem , Radioisótopos de Gálio
9.
J Craniomaxillofac Surg ; 51(9): 568-573, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37599200

RESUMO

Tongue reduction surgery is often pursued to manage the adverse effects of macroglossia in patients with Beckwith-Wiedemann syndrome (BWS). This study characterized dental outcomes in patients with BWS based on surgical timing and molecular diagnosis. A retrospective study was designed to include patients with BWS over the age of two who had clinical or radiographic documentation of dental development. Patients were grouped by history of tongue reduction surgery and surgical timing (early: <12 months). One hundred three patients were included (55 no tongue reduction, 18 early, 30 late). Patients who underwent late surgery had lower odds of class I occlusion (OR 0.11, 95% CI 0.02-0.58, p = 0.009) and higher odds of anterior open bite (OR 7.5, 95% CI 1.14-49.4, p = 0.036). Patients with clinical diagnoses and negative molecular testing had anterior open bite less frequently than patients with imprinting center 2 loss of methylation and paternal uniparental isodisomy of 11p15.5 (p = 0.009). Compared to reference values, patients who had tongue reductions had an increased mandibular plane angle (32.0 ± 4.5° versus 36.9 ± 5.0°, p = 0.001), indicative of hyperdivergent growth. The results of this study help to understand the complex nature of dentoskeletal growth in BWS and shed insight on how surgical timing and molecular diagnosis influence prognosis.


Assuntos
Síndrome de Beckwith-Wiedemann , Mordida Aberta , Humanos , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/cirurgia , Mordida Aberta/cirurgia , Estudos Retrospectivos , Língua/cirurgia , Genótipo , Metilação de DNA
10.
J Neuroimaging ; 33(6): 917-925, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37355834

RESUMO

BACKGROUND AND PURPOSE: Wernicke's encephalopathy (WE) is a severe acute disorder related to thiamine deficiency. This study was aimed at revealing the relationship between clinical and imaging findings and WE recovery. METHODS: We retrospectively reviewed 34 cases of WE diagnosed between 2003 and 2020 (median age: 57 years, 14 females) at two academic institutions. WE cases were divided into two groups with symptomatic recovery within 4 weeks (group 1) or later (group 2). The lesion sites were divided into typical and atypical sites (total sites defined as when either typical or atypical sites were involved). Clinical and MRI features were compared between them as appropriate. RESULTS: WE patients were divided into group 1 (19 cases, median age: 57 years, 10 females) and group 2 (15 cases, median age: 57 years, four females). Regarding clinical features, only cerebellar ataxia was more often observed in group 1 than in group 2. Regarding MRI features, signal abnormality on T2-weighted image (WI)/fluid-attenuated inversion recovery (FLAIR) was more often observed in atypical sites between groups 1 and 2 (1/19 vs. 7/15; p = .01). There were significant differences between groups 1 and 2 regarding the presence of both vasogenic edema and cytotoxic edema in total sites (4/11 vs. 11/15, p = .005; 1/19 vs. 6/15, p = .03), with a significant difference in the presence of vasogenic edema in typical sites (4/19 vs. 10/15, p = .01). CONCLUSION: The early recovered group showed a lower incidence of T2WI/FLAIR abnormality in atypical sites and diffusion signal abnormality in total or typical sites with a lower incidence of cerebellar ataxia.


Assuntos
Ataxia Cerebelar , Encefalopatia de Wernicke , Feminino , Humanos , Pessoa de Meia-Idade , Encefalopatia de Wernicke/diagnóstico por imagem , Encefalopatia de Wernicke/etiologia , Ataxia Cerebelar/complicações , Estudos Retrospectivos , Imageamento por Ressonância Magnética/efeitos adversos , Prognóstico , Edema/complicações
11.
Plast Reconstr Surg ; 2023 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-37257130

RESUMO

BACKGROUND: Children born with hemifacial microsomia (HFM) can suffer from airway compromise. There is a paucity of data correlating degree of HFM severity with airway difficulty. This study aims to determine the relationship between degree of micrognathia and airway insufficiency in the HFM population. METHODS: Patient demographics, airway function, Kaban-Pruzansky (KP) grade, and Cormack Lehane (CL) grade were collected and compared with appropriate statistics for HFM patients treated between 2000 and 2022. RESULTS: Seventy patients underwent 365 operations with KP grading as follows: 34% I, 23% IIA, 11% IIB, and 33% grade III. Goldenhar syndrome was present in 40% of patients and 16% had bilateral disease. KP grade (p<0.001) predicted mean number of airway-affecting procedures undergone and difficult airway status (p<0.001), with 75% of difficult airways in KP III patients. There was no association of airway compromise with Goldenhar syndrome, laterality, or age (p>0.05). Most CL grades were I (61%) or IIA (13%), with fewer IIB, III, and IV (4-7%). KP grade predicted CL grade (p<0.001), with 71% of grade IV views and 64% of grade III views seen in KP III patients. CONCLUSIONS: Kaban-Pruzansky grade correlated with airway severity in HFM. Patients do not appear to outgrow their CL grade, as previously hypothesized, suggesting that KP III patients remain at increased risk for airway insufficiency into the teen years. Given the potential significant morbidity associated with airway compromise, proper identification and preparation for challenging airway is a critical part of caring for patients with HFM.

12.
J Craniofac Surg ; 34(3): 849-854, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-36944600

RESUMO

Arhinia, or congenital absence of the nose, is an exceedingly rare anomaly caused by pathogenic variants in the gene SMCHD1 . Arhinia exhibits unique reconstructive challenges, as the midface is deficient in skeletal and soft tissue structures. The authors present 2 related patients with arhinia who harbor a novel SMCHD1 gene variant and illustrate their surgical midface and nasal construction. Targeted sequencing was carried out on DNA samples from the 2 affected patients, 1 anosmic and 1 healthy parent, to identify variants in exons 3 to 13 of SMCHD1 . The affected patients and anosmic parent were found to have a novel SMCHD1 gene variant p.E473V. A staged surgical approach was applied. First, both patients underwent a LeFort II osteotomy and distraction osteogenesis to improve the projection of the midfacial segment, followed by tissue expansion of the forehead, and nasal construction with a forehead flap that was placed over a costochondral framework derived from rib cartilage. The novel gene variant could guide future investigations on genetic pathways and molecular processes that underly the physiological and pathologic development of the nose. Further investigations on the variable expressivity ranging from anosmia to arhinia could improve clinical genetic screens for risk stratification of individuals with anosmia on passing on arhinia to their children. Due to the exceptional rarity and complexity of congenital arhinia, most surgical approaches are developed on a single-case basis. This case series, albeit limited to 2 cases, is the largest pedigree of such cases in the literature. It highlights key principles of a staged approach to nasal construction in arhinia and discusses nuances and improvements learned between both patients. It subsequently offers an optimized guide to this surgical strategy.


Assuntos
Anosmia , Procedimentos de Cirurgia Plástica , Criança , Humanos , Nariz/cirurgia , Nariz/anormalidades , Linhagem , Proteínas Cromossômicas não Histona/genética
13.
Clin Imaging ; 96: 49-55, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36801537

RESUMO

PURPOSE: Differentiation of paragangliomas and meningiomas can be a challenge. This study aimed to assess the utility of dynamic susceptibility contrast perfusion MRI (DSC-MRI) to distinguish paragangliomas from meningiomas. METHODS: This retrospective study included 40 patients with paragangliomas and meningiomas in the cerebellopontine angle and jugular foramen region between March 2015 and February 2022 in a single institution. Pretreatment DSC-MRI and conventional MRI were performed in all cases. Normalized relative cerebral blood volume (nrCBV), relative cerebral blood flow (nrCBF), relative mean transit time (nrMTT), and time to peak (nTTP) as well as conventional MRI features were compared between the 2 tumor types and between meningioma subtypes as appropriate. Receiver operating characteristic curve and multivariate logistic regression analysis were performed. RESULTS: Twenty-eight meningiomas including 8 WHO grade II meningiomas (12 males, 16 females; median age 55 years) and 12 paragangliomas (5 males, 7 females; median age 35 years) were included in this study. Paragangliomas had a higher rate of cystic/necrotic changes (10/12 vs 10/28; P = 0.014), a higher rate of internal flow voids (9/12 vs 8/28; P = 0.013), higher nrCBV (median 9.78 vs 6.64; P = 0.04), and shorter nTTP (median 0.78 vs 1.06; P < 0.001) than meningiomas. There was no difference in conventional imaging features and DSC-MRI parameters between meningioma subtypes. nTTP was identified as the most significant parameter for the 2 tumor types in the multivariate logistic regression analysis (P = 0.009). CONCLUSIONS: In this small retrospective study, DSC-MRI perfusion differences were observed between paragangliomas and meningiomas, but not between grade I and II meningiomas.


Assuntos
Forâmen Jugular , Neoplasias Meníngeas , Meningioma , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Adulto , Meningioma/patologia , Estudos Retrospectivos , Ângulo Cerebelopontino/patologia , Forâmen Jugular/patologia , Imageamento por Ressonância Magnética/métodos
14.
Neuroradiology ; 65(4): 805-813, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36635515

RESUMO

PURPOSE: This study tested the utility of diffusion-weighted imaging (DWI) and dynamic contrast-enhanced imaging (DCE-MRI) in differentiating paragangliomas and metastases in the jugular foramen in combination with conventional imaging. METHODS: Forty-nine consecutive patients with paragangliomas or metastases between January 2015 and April 2022 were included in this retrospective study. All patients had pretreatment DWI and DCE-MRI. Between paragangliomas and metastases, normalized apparent diffusion coefficient (nADCmean) and DCE-MRI parameters were compared along with conventional imaging features (enhancement pattern, presence of flow voids, cystic/necrotic change, and bone erosion). The diagnostic performance was tested using receiver operating characteristic (ROC) analysis. RESULTS: Thirty-five paragangliomas (5 male; median 49 years) and 14 metastases (9 male; median 61 years) were analyzed. The most common 3 primary cancers included 4 lung cancers, 3 breast cancers, and 3 melanomas. The presence of flow void was significantly different between paragangliomas and metastases (21/35 vs 2/14; P = 0.0047) in conventional imaging features, while fractional plasma volume (Vp) was significantly different between the two tumor types (median 0.46 vs 0.19; P < 0.001) in DWI and DCE-MRI parameters. The areas under the ROC curves (AUCs) of the presence of flow void and Vp were 0.72 and 0.93, respectively. The AUC of the combination of the presence of flow void and Vp was 0.95 and significantly improved compared to that of the presence of flow void (P < 0.001). CONCLUSION: Adding DCE-MRI to the head and neck protocol can aid in the precise differentiation between jugular foramen paragangliomas and metastases.


Assuntos
Neoplasias da Mama , Forâmen Jugular , Paraganglioma , Humanos , Masculino , Estudos Retrospectivos , Forâmen Jugular/patologia , Sensibilidade e Especificidade , Meios de Contraste , Imageamento por Ressonância Magnética/métodos , Imagem de Difusão por Ressonância Magnética/métodos , Paraganglioma/diagnóstico por imagem
15.
J Neuroophthalmol ; 43(1): 126-130, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-35830685

RESUMO

BACKGROUND: Imaging diagnosis of clival cancer may be difficult, in part because of normal variation in marrow signal with aging. Identifying whether clival cancer has damaged the sixth cranial nerve is a further challenge because minimal clival abnormalities could impinge on the nerve, which travels very close to the clivus. METHODS: Two neuroradiologists, who were unaware of previous imaging and clinical diagnoses, reviewed MRI studies of 25 patients with cancer but no clival involvement and no sixth nerve palsy, 24 patients with clival cancer but without sixth nerve palsy, and 31 patients with clival cancer and sixth nerve palsy. The radiologists were tasked with determining whether there was clival cancer, whether there was a sixth nerve palsy and its laterality, and with indicating the pulse sequences used to make those determinations. RESULTS: Both neuroradiologists correctly identified all 25 cases with a normal clivus. In about half of those cases, they depended on finding a homogeneously bright marrow signal; in the remaining cases, they excluded cancer by determining that the clivus was not expanded and that there were no focal signal abnormalities. Both neuroradiologists correctly identified clival cancer in 54 (98%) of the 55 cases with and without sixth nerve palsy. In doing so, they relied mostly on clival expansion but also on focal signal abnormalities. Both neuroradiologists were at least 80% correct in identifying a sixth nerve palsy, but they often incorrectly identified a palsy in patients who did not have one. When there was a one-sided signal abnormality or the clivus was expanded in one direction, both neuroradiologists were accurate in identifying the side of the sixth nerve palsy. CONCLUSION: Current MRI pulse sequences allow accurate differentiation of a normal from a cancerous clivus. When the marrow signal is not homogeneously bright in adults, cancer can be diagnosed on the basis of clival expansion or focal signal abnormalities. MRI is less accurate in predicting the presence of a sixth nerve palsy. However, the side of a unilateral palsy can be predicted when the clivus is clearly expanded in one direction or there is a focal signal abnormality on one side.


Assuntos
Doenças do Nervo Abducente , Neoplasias da Base do Crânio , Adulto , Humanos , Fossa Craniana Posterior/diagnóstico por imagem , Doenças do Nervo Abducente/diagnóstico , Doenças do Nervo Abducente/etiologia , Nervo Abducente , Neoplasias da Base do Crânio/complicações , Neoplasias da Base do Crânio/diagnóstico , Imageamento por Ressonância Magnética
16.
Ann Surg ; 278(1): e203-e208, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-35837894

RESUMO

BACKGROUND/OBJECTIVE: Implant-based breast reconstruction is a common plastic surgery procedure with well-documented clinical outcomes. Despite this, the natural history and timing of key complication endpoints are not well described. The goal of this study is to determine when patients are most likely to experience specific adverse events after implant-based reconstruction. METHODS: Retrospective consecutive series of patients who received mastectomy and implant-based reconstruction over a 6-year period were included. Complications and unfavorable outcomes including hematoma, seroma, wound infection, skin flap necrosis, capsular contracture, implant rippling, and implant loss were identified. A time-to-event analysis was performed and Cox regression models identified patient and treatment characteristics associated with each outcome. RESULTS: Of 1473 patients and 2434 total reconstructed breasts, 785 complications/unfavorable outcomes were identified. The 12-month cumulative incidence of hematoma was 1.4%, seroma: 4.3%, infection: 3.2%, skin flap necrosis: 3.9%, capsular contracture: 5.7%, implant rippling: 7.1%, and implant loss: 3.9%. In the analysis, 332/785 (42.3%) complications occurred within 60 days of surgery; 94% of hematomas, 85% of skin necrosis events, and 75% of seromas occurred during this period. Half of all infections and implant losses also occurred within 60 days. Of the remaining complications, 94% of capsular contractures and 93% of implant rippling occurred >60 days from surgery. CONCLUSIONS: Complications following mastectomy and implant-based reconstruction exhibit a discrete temporal distribution. These data represent the first comprehensive study of the timing of adverse events following implant-based reconstruction. These findings are immediately useful to guide postoperative care, follow-up, and clinical trial design.


Assuntos
Implante Mamário , Implantes de Mama , Neoplasias da Mama , Mamoplastia , Humanos , Feminino , Mastectomia/métodos , Implante Mamário/efeitos adversos , Estudos Retrospectivos , Seroma/etiologia , Seroma/complicações , Neoplasias da Mama/complicações , Seguimentos , Mamoplastia/efeitos adversos , Mamoplastia/métodos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Hematoma/etiologia , Hematoma/complicações , Necrose/complicações , Implantes de Mama/efeitos adversos , Resultado do Tratamento
17.
Sci Rep ; 12(1): 17512, 2022 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-36266370

RESUMO

With improvement in mastectomy skin flap viability and increasing recognition of animation deformity following sub-pectoral implant placement, there has been a transition toward pre-pectoral breast reconstruction. While studies have explored the cost effectiveness of implant-based breast reconstruction, few investigations have evaluated cost with respect to pre-pectoral versus sub-pectoral breast reconstruction. A retrospective review of 548 patients who underwent mastectomy and implant-based breast reconstruction was performed from 2017 to 2020. The demographic and surgical characteristics of the pre-pectoral and sub-pectoral cohorts were well matched, except for reconstructive staging, as patients who underwent pre-pectoral reconstruction were more likely to undergo single-stage instead of two-stage reconstruction. Comparison of institutional cost ratios by reconstructive technique revealed that the sub-pectoral approach was more costly (1.70 ± 0.44 vs 1.58 ± 0.31, p < 0.01). However, further stratification by laterality and reconstructive staging failed to demonstrate difference in cost by reconstructive technique. These results were confirmed by multivariable linear regression, which did not reveal reconstructive technique to be an independent variable for cost. This study suggests that pre-pectoral breast reconstruction is a cost-effective alternative to sub-pectoral breast reconstruction and may confer cost benefit, as it is more strongly associated with direct-to-implant breast reconstruction.


Assuntos
Implante Mamário , Implantes de Mama , Neoplasias da Mama , Mamoplastia , Humanos , Feminino , Implante Mamário/métodos , Mastectomia/métodos , Neoplasias da Mama/cirurgia , Mamoplastia/métodos , Estudos Retrospectivos , Custos e Análise de Custo
18.
J Neuroophthalmol ; 42(3): 353-359, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36166759

RESUMO

BACKGROUND: Perimetry is widely used in the localization of retrochiasmal visual pathway lesions. Although macular sparing, homonymous paracentral scotomas, and quadrantanopias are regarded as features of posterior retrochiasmal visual pathway lesions, incongruous hemianopia is regarded as a hallmark of anterior lesions. Recent studies have questioned the specificity of these defect patterns. METHODS: Retrospective record review conducted in a single, academic, medical center using an electronic search engine with the terms ""homonymous hemianopia," "optic tract," "temporal lobectomy," "visual field defect," and "MRI." Patients were included if they had reliable, automated, static visual fields, high-quality reviewable MRI scans, and pertinent lesions. MRI lesions were assigned to 1 of 6 retrochiasmal visual pathway segments by the study neuroradiologist. Two study authors independently reviewed the visual fields and designated 10 different defect patterns. RESULTS: From an original cohort of 256 cases, only 83 had MRI-defined lesions that were limited to particular retrochiasmal segments and had visual field defect patterns that allegedly permitted localization to those particular segments. The 5 contralateral nerve fiber bundle defects were exclusive to optic tract tumors with rostral extension. Pie-in-the-sky defects were exclusive to Meyer loop lesions. Among 22 fields with macular sparing, 86% arose from the visual cortex or posterior optic radiations. Among 31 fields with homonymous quadrantanopias, 77% arose from Meyer loop, visual cortex, or posterior optic radiations. Among 13 fields with homonymous paracentral scotomas, 69% arose from visual cortex or posterior optic radiations. Optic tract lesions accounted for 70% of incongruous hemianopias but that pattern occurred uncommonly. CONCLUSION: In correlating discrete MRI-defined retrochiasmal lesions with visual field defect patterns identified on static perimetry, this study showed that macular sparing, homonymous paracentral scotomas, and quadrantanopias localized to the visual cortex and posterior optic radiations segments but not exclusively. It has differed from an earlier study in showing that incongruous hemianopias occur predominantly from optic tract lesions.


Assuntos
Hemianopsia , Testes de Campo Visual , Hemianopsia/diagnóstico , Hemianopsia/etiologia , Humanos , Estudos Retrospectivos , Escotoma/diagnóstico , Escotoma/etiologia , Transtornos da Visão/diagnóstico , Campos Visuais , Vias Visuais/diagnóstico por imagem , Vias Visuais/patologia
19.
J Neuroophthalmol ; 42(3): 360-366, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36166760

RESUMO

BACKGROUND: The representation of the visual field in visual cortex was established over a century ago by correlating perimetric defects with the estimated location of war wounds. The availability of high-definition MRI offers the possibility of more precise correlation. METHODS: Homonymous hemianopias disclosed on automated visual fields (HVFs) were drawn from an electronic medical record search from 2009 to 2020 at the Michigan Medicine, a tertiary care academic medical center. The patterns of the visual field defects (VFDs) were interpreted by a consensus of 2 authors. The VFDs were correlated with the location of MRI lesions in 92 patients with posterior cerebral artery (PCA) domain ischemic strokes, as determined by the neuroradiologist author, who was masked as to the VFDs. RESULTS: Among the 77 VFDs confined to 1 hemifield, 74 (96%) correctly predicted the side of the visual cortex lesion. In 3 cases, the MRI lesion in the opposite cerebral hemisphere was not foretold. Among the 15 VFDs present in both hemifields, 5 (33.3%) overestimated the MRI lesions, which were evident in only 1 hemisphere. Among the 30 VFDs confined to 1 quadrant, 29 (97%) correctly predicted the lesioned visual cortex quadrant. However, 14 VFDs failed to predict MRI lesions present in both superior and inferior visual cortex quadrants on the same side. Those unpredicted lesions mostly had subtle or indistinct signal abnormalities or were confined to anterior visual cortex, an area that is inaccessible with the HVF test protocol used in this study. CONCLUSION: In this study of PCA ischemic stroke, VFDs limited to 1 hemifield were accurate in locating the side and quadrant of the MRI visual cortex lesions. However, the quadrantic VFDs sometimes failed to predict that the lesions involved both the superior and inferior quadrants on the same side, largely because those lesions had subtle imaging features that defied accurate radiologic assessment or were out of the reach of the visual field test protocol.


Assuntos
Infarto da Artéria Cerebral Posterior , Campos Visuais , Hemianopsia/diagnóstico , Hemianopsia/etiologia , Humanos , Infarto da Artéria Cerebral Posterior/diagnóstico , Infarto da Artéria Cerebral Posterior/diagnóstico por imagem , Imageamento por Ressonância Magnética , Transtornos da Visão , Testes de Campo Visual
20.
J Neuroophthalmol ; 42(3): 367-371, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36166761

RESUMO

BACKGROUND: The concepts of the representation of visual field in primary visual cortex are based on studies of war wounds and correlations with brain imaging in small cohorts. Because of the difficulty of judging brain lesion extent and the small number of studied patients, there is lingering controversy as to whether the central 15° of visual field are mapped onto the posterior 25% of primary visual cortex or onto a larger area. To improve the delineation of MRI lesion extent, we have studied only patients with posterior cerebral artery (PCA) ischemic strokes. METHODS: We accrued a cohort of 92 patients with PCA strokes from an electronic medical records search between 2009 and 2020 at a single tertiary care academic institution. Patients had reliable static perimetry demonstrating homonymous hemianopias and high-definition reviewable brain imaging. We divided the primary visual cortex on the MRI T1 sagittal sequence into 8 equal segments in right and left cerebral hemispheres and located lesions according to the segments they occupied. We correlated lesion locations with 3 visual field defects (VFDs): macular-sparing homonymous quadrantanopias, macular-splitting homonymous quadrantanopias, and homonymous paracentral scotomas. RESULTS: Among 25 cases with macular sparing, 13 had lesion-sparing confined to the posterior 25% of visual cortex. Among 6 cases with homonymous paracentral scotomas, 2 had lesions confined to the posterior 25% of visual cortex. Macular-splitting quadrantanopia did not occur in any patients with lesions confined to the posterior 25% of visual cortex, but did occur in 3 patients with lesions confined to the posterior 50% of visual cortex. These phenomena would not be expected if the central 15° of visual field were mapped onto a region extending beyond the posterior 25% of visual cortex. In patients with PCA strokes that involved the retrogeniculate visual pathway proximal to visual cortex, the visual cortex lesions were often less extensive than predicted by the VFDs, perhaps because of widespread damage to axons before they reached their destination in visual cortex. CONCLUSIONS: These results support the concept that the central 15° of the visual field are represented in the posterior 25% of visual cortex. Although this study contributes a larger cohort of patients with better-defined lesion borders than in past reports, its conclusions must be tempered by the variability of patient attention during visual field testing, the subjectivity in the interpretation of the defect patterns, and the difficulty in judging MRI lesion extent even on diffusion-weighted and precontrast T1 sagittal sequences.


Assuntos
Infarto da Artéria Cerebral Posterior , Acidente Vascular Cerebral , Hemianopsia/diagnóstico , Hemianopsia/etiologia , Humanos , Infarto da Artéria Cerebral Posterior/complicações , Infarto da Artéria Cerebral Posterior/diagnóstico , Imageamento por Ressonância Magnética/métodos , Escotoma/diagnóstico , Escotoma/etiologia , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Testes de Campo Visual/métodos
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