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1.
AJNR Am J Neuroradiol ; 44(10): 1219-1223, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37652581

RESUMO

Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed. All lesions were classified into 3 arterial spin-labeling perfusion patterns: homogeneous hypoperfusion (pattern 1, n = 15; benign lesions), heterogeneous hyperperfusion (pattern 2, n = 9; cellulitis, histiocytosis, malignant tumors), and homogeneous intense hyperperfusion (pattern 3, n = 3; infantile hemangiomas). Arterial spin-labeling can be a valuable tool to improve the diagnostic confidence of some orbital lesions, including infantile hemangioma. An algorithm is proposed.


Assuntos
Imageamento por Ressonância Magnética , Doenças Vasculares , Humanos , Criança , Marcadores de Spin , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Artérias
2.
Ann Chir Plast Esthet ; 68(5-6): 484-490, 2023 Nov.
Artigo em Francês | MEDLINE | ID: mdl-37423825

RESUMO

Oftentimes ignored or infrequently expressed, some transgender persons harbor a desire for parenthood. Given the evolution of medical techniques and the enacting of legislative reforms, it is henceforth possible to propose fertility preservation strategies in the overall context of gender transidentity. During the "female to male" (FtM) transition pathway, androgen therapy has an impact on gonadic function, generally inducing blockage of the ovarian function, with amenorrhea. Even though these events may be reversed on cessation of treatment, the possible long-term effects on future fertility and on the health of children yet to be born are little known. Moreover, transition surgeries definitively compromise the possibility of pregnancy insofar as they involve bilateral adnexectomy and/or hysterectomy. Options for fertility preservation in the framework of FtM transition are premised on cryopreservation of oocytes and/or ovarian tissue. In a comparable manner, even though relevant documentation is lacking, hormonal treatments for persons transitioning from male to female (MtF) can have an impact on future fertility. In the event of surgery involving bilateral orchidectomy in which spermatozoid cryopreservation has not been carried out, fertility is definitively impossible. In both cases and under present-day legislation, numerous legal and regulatory barriers render highly problematic the reutilization of cryopreserved gametes. Given these different constraints, it is indispensable to closely supervise these types of treatment by proposing psychological support.


Assuntos
Preservação da Fertilidade , Pessoas Transgênero , Criança , Humanos , Masculino , Feminino , Preservação da Fertilidade/métodos , Preservação da Fertilidade/psicologia , Criopreservação/métodos , Pessoas Transgênero/psicologia
3.
Interface Focus ; 13(2): 20220066, 2023 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-36789237

RESUMO

[This corrects the article DOI: 10.1098/rsfs.2022.0019.][This corrects the article DOI: 10.1098/rsfs.2022.0019.].

4.
J Clin Oncol ; 41(2): 154-162, 2023 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-36603541

RESUMO

PURPOSE: The CD20 antigen is expressed on more than 90% of B-cell lymphomas. It is appealing for targeted therapy, because it does not shed or modulate. A chimeric monoclonal antibody more effectively mediates host effector functions and is itself less immunogenic than are murine antibodies. PATIENTS AND METHODS: This was a multiinstitutional trial of the chimeric anti-CD20 antibody, IDEC-C2B8. Patients with relapsed low grade or follicular lymphoma received an outpatient treatment course of IDEC-C2B8 375 mg/m2 intravenously weekly for four doses. RESULTS: From 31 centers, 166 patients were entered. Of this intent-to-treat group, 48% responded. With a median follow-up duration of 11.8 months, the projected median time to progression for responders is 13.0 months. Serum antibody levels were sustained longer after the fourth infusion than after the first, and were higher in responders and in patients with lower tumor burden. The majority of adverse events occurred during the first infusion and were grade 1 or 2; fever and chills were the most common events. Only 12% of patients had grade 3 and 3% grade 4 toxicities. A human antichimeric antibody was detected in only one patient. CONCLUSION: The response rate of 48% with IDEC-C2B8 is comparable to results with single-agent cytotoxic chemotherapy. Toxicity was mild. Attention needs to be paid to the rate of antibody infusion, with titration according to toxicity. Further investigation of this agent is warranted, including its use in conjunction with standard chemotherapy.

5.
Rev Neurol (Paris) ; 178(10): 999-1010, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36336488

RESUMO

In 2021, aducanumab, an immunotherapy targeting amyloid-ß, was approved for Alzheimer's disease (AD) by the US Food and Drug Administration thanks to positive results on a putative biological surrogate marker. This approval has raised an unprecedented controversy. It was followed by a refusal of the European Medicine Agency, which does not allow the marketing of drugs solely on biological arguments and raised safety issues, and important US coverage limitations by the Centers for Medicare & Medicaid Services. Two other anti-amyloid immunotherapies showed significant results regarding a clinical outcome in phase II trials, and five drugs are being studied in phase III trials. Lecanemab is currently under examination for an 'Accelerated Approval' in the US, with an expected decision in January 2023. The common feature and novelty of these anti-amyloid immunotherapies, compared to those tested in previous trials of the 2010s, is their ability to induce a high clearance of amyloid load, as measured with positron emission tomography, in the brain of early-stage biomarker-proven AD patients. In the first part of this review, we underlined through a meta-analysis that the pooled data from high-clearance anti-amyloid immunotherapies trials demonstrated a significant but slight clinical effect after 18 months. Still, safety remains an issue with serious and symptomatic amyloid-related imaging abnormalities, which are seldom (∼1 per 200 treated patients) but occur beyond chance. In the second part of this review, we hypothesized that there is a high probability that some phase III trials of high-clearance anti-amyloid immunotherapies in early AD will finally be unarguably positive on clinical outcomes in the next five years with acceptable safety data. This may, in turn, lead to approval by the European Medicine Agency if the risk-benefit profile is deemed favorable. Such approval would be a game-changer in managing AD patients and for the organization of memory clinics in France. We review the possible timeline and scenarios for putative approval in France and make propositions regarding putative use in clinical practice, putative implementation in a real-life setting, and ethical considerations.


Assuntos
Doença de Alzheimer , Idoso , Estados Unidos , Humanos , Doença de Alzheimer/terapia , Doença de Alzheimer/diagnóstico , Medicare , Peptídeos beta-Amiloides/uso terapêutico , Imunoterapia/métodos , Amiloide , Biomarcadores
6.
Rev Neurol (Paris) ; 178(10): 1011-1030, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36184326

RESUMO

In 2021, aducanumab, an immunotherapy targeting amyloid-ß, was approved for Alzheimer's disease (AD) by the US Food and Drug Administration thanks to positive results on a putative biological surrogate marker. This approval has raised an unprecedented controversy. It was followed by a refusal of the European Medicine Agency, which does not allow the marketing of drugs solely on biological arguments and raised safety issues, and important US coverage limitations by the Centers for Medicare & Medicaid Services. Two other anti-amyloid immunotherapies showed significant results regarding a clinical outcome in phase 2 trials, and five drugs are being studied in phase 3 trials. Compared to those tested in previous trials of the 2010s, the common feature and novelty of these anti-amyloid immunotherapies is their ability to induce a high clearance of amyloid load, as measured with positron emission tomography, in the brain of early-stage biomarker-proven AD patients. Here, we review the available evidence regarding efficacy and safety data and medico-economical aspects for high-clearance anti-amyloid immunotherapies. We also perform frequentist and Bayesian meta-analyses of the clinical efficacy and safety of the highest dose groups from the two aducanumab phase 3 trials and the donanemab and lecanemab phase 2 trials. When pooled together, the data from high-clearance anti-amyloid immunotherapies trials confirm a statistically significant clinical effect of these drugs on cognitive decline after 18 months (difference in cognitive decline measured with CDR-SB after 18 months between the high dose immunotherapy groups vs. placebo = -0.24 points; P=0.04, frequentist random-effect model), with results on ADAS-Cog being the most statistically robust. However, this effect remains below the previously established minimal clinically relevant values. In parallel, the drugs significantly increased the occurrence of amyloid-related imaging abnormalities-edema (ARIA-E: risk ratio=13.39; P<0.0001), ARIA-hemorrhage (risk ratio=2.78; P=0.0002), and symptomatic and serious ARIA (7/1321=0.53% in the high dose groups versus 0/1446 in the placebo groups; risk ratio=6.44; P=0.04). The risk/benefit ratio of high-clearance immunotherapies in early AD is so far questionable after 18 months. Identifying subgroups of better responders, the perspective of combination therapies, and a longer follow-up may help improve their clinical relevance. Finally, the preliminary evidence from medico-economical analyses seems to indicate that the current cost of aducanumab in the US is not in reasonable alignment with its clinical benefits.


Assuntos
Doença de Alzheimer , Idoso , Estados Unidos , Humanos , Doença de Alzheimer/terapia , Teorema de Bayes , Medicare , Peptídeos beta-Amiloides/metabolismo , Peptídeos beta-Amiloides/uso terapêutico , Encéfalo/metabolismo , Biomarcadores
7.
AJNR Am J Neuroradiol ; 43(10): 1516-1522, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36137664

RESUMO

BACKGROUND AND PURPOSE: Sturge-Weber syndrome is a rare congenital neuro-oculo-cutaneous disorder. Although the principal mechanism of Sturge-Weber syndrome is characterized by a leptomeningeal vascular malformation, few data regarding perfusion abnormalities of the brain parenchyma are available. Therefore, the aim of this study was to assess the diagnostic performance of arterial spin-labeling perfusion imaging in the early stage of Sturge-Weber syndrome before 1 year of age until 3.5 years of age. We hypothesized that a leptomeningeal vascular malformation has very early hypoperfusion compared with controls with healthy brains. MATERIALS AND METHODS: We compared the CBF using arterial spin-labeling perfusion imaging performed at 3T MR imaging in the brain parenchymal regions juxtaposing the leptomeningeal vascular malformation in patients with Sturge-Weber syndrome (n = 16; 3.5 years of age or younger) with the corresponding areas in age-matched controls with healthy brains (n = 58). The analysis was performed following two complementary methods: a whole-brain voxel-based analysis and a visual ROI analysis focused on brain territory of the leptomeningeal vascular malformation. RESULTS: Whole-brain voxel-based comparison revealed a significant unilateral decrease in CBF localized in the affected cortices of patients with Sturge-Weber syndrome (P < .001). CBF values within the ROIs in patients with Sturge-Weber syndrome were lower than those in controls (in the whole cohort: median, 25 mL/100g/min, versus 44 mL/100g/min; P < .001). This finding was also observed in the group younger than 1 year of age, emphasizing the high sensitivity of arterial spin-labeling in this age window in which the diagnosis is difficult. CONCLUSIONS: Arterial spin-labeling perfusion imaging in the early stage of Sturge-Weber syndrome can help to diagnose the disease by depicting a cortical hypoperfusion juxtaposing the leptomeningeal vascular malformation.


Assuntos
Síndrome de Sturge-Weber , Malformações Vasculares , Humanos , Pré-Escolar , Síndrome de Sturge-Weber/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/irrigação sanguínea , Perfusão , Imagem de Perfusão
8.
Nutr Metab Cardiovasc Dis ; 32(12): 2739-2750, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36163210

RESUMO

BACKGROUND AND AIMS: The negative effect on dietary nutrient profiles is the most obvious mechanism explaining the higher risk of cardiometabolic diseases associated with increased dietary share of UPF observed in large cohort studies. We estimate the proportion of diets with excessive energy density, excessive free sugars or saturated fat contents and insufficient fiber that could be avoided, if UPF consumption was reduced to levels among lowest consumers across eight countries, as well as the proportion of diets with multiple inadequacies. METHODS AND RESULTS: Using nationally-representative cross-sectional surveys from Brazil (2008-09), Chile (2010), Colombia (2005), Mexico (2012), Australia (2011-12), the UK (2008-16), Canada (2015), and the US (2015-16), inadequate energy density (≥2.25 kcal/g) or contents of free sugars (>10% of total energy intake), saturated fats (>10% of total energy intake) and fiber (<25 g/2000 kcal) population attributable fractions were quantified. Substantial reductions in nutrient inadequacies would be observed ranging from 50.4% in Chile to 76.8% in US for dietary energy density, from 15.5% in Colombia to 68.4% in Australia for free sugars, from 9.5% in Canada to 35.0% in Mexico for saturated fats, and from 10.3% in UK to 37.9% in Mexico for fiber. Higher reductions would be observed for diets with multiple nutrient inadequacies: from 27.3% in UK to 77.7% in Australia for ≥3 and from 69.4% in Canada to 92.1% in US, for 4 inadequacies. CONCLUSIONS: Lowering dietary contribution of UPF to levels among country-specific lowest consumers is a way to improve population cardiometabolic-related dietary nutrient profiles.


Assuntos
Doenças Cardiovasculares , Manipulação de Alimentos , Humanos , Estudos Transversais , Manipulação de Alimentos/métodos , Fast Foods , Dieta/efeitos adversos , Ingestão de Energia , Fibras na Dieta , Nutrientes , Açúcares , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/prevenção & controle
10.
Br J Nutr ; 127(1): 112-122, 2022 01 14.
Artigo em Inglês | MEDLINE | ID: mdl-33691816

RESUMO

We aimed to evaluate the association between eating context patterns and ultraprocessed food consumption at two main meal occasions in a representative sample of UK adolescents. Data were acquired from 4-d food records of adolescents aged 11-18 years, who participated in the 2014-2016 UK National Diet and Nutrition Survey (n 542). The eating context was assessed considering the location of the meal (lunch and dinner) occasion, the individuals present, whether the television was on and if the food was consumed at a table. Ultraprocessed foods were identified using the NOVA classification. Exploratory factor analysis was used to identify eating context patterns for lunch and dinner. Linear regression models adjusted for the covariates were utilised to test the association between eating context patterns and the proportion of total daily energy intake derived from ultraprocessed foods. Their contribution was about 67 % to energy intake. Three patterns were retained for lunch ('At school with friends', 'TV during family meal' and 'Out-of-home (no school)'), and three patterns were retained for dinner ('Watching TV alone in the bedroom', 'TV during family meal' and 'Out-of-home with friends'). At lunch, there was no significant association between any of the three patterns and ultraprocessed food consumption. At dinner, the patterns 'Watching TV alone in the bedroom' (coefficient: 4·95; 95 % CI 1·87, 8·03) and 'Out-of-home with friends' (coefficient: 3·13; 95 % CI 0·21, 6·14) were associated with higher consumption of ultraprocessed food. Our findings suggest a potential relationship between the immediate eating context and ultraprocessed food consumption by UK adolescents.


Assuntos
Ingestão de Energia , Comportamento Alimentar , Adolescente , Dieta , Ingestão de Alimentos , Humanos , Refeições , Inquéritos Nutricionais , Reino Unido
11.
Nature ; 600(7889): 450-455, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34912089

RESUMO

Early to Middle Miocene sea-level oscillations of approximately 40-60 m estimated from far-field records1-3 are interpreted to reflect the loss of virtually all East Antarctic ice during peak warmth2. This contrasts with ice-sheet model experiments suggesting most terrestrial ice in East Antarctica was retained even during the warmest intervals of the Middle Miocene4,5. Data and model outputs can be reconciled if a large West Antarctic Ice Sheet (WAIS) existed and expanded across most of the outer continental shelf during the Early Miocene, accounting for maximum ice-sheet volumes. Here we provide the earliest geological evidence proving large WAIS expansions occurred during the Early Miocene (~17.72-17.40 Ma). Geochemical and petrographic data show glacimarine sediments recovered at International Ocean Discovery Program (IODP) Site U1521 in the central Ross Sea derive from West Antarctica, requiring the presence of a WAIS covering most of the Ross Sea continental shelf. Seismic, lithological and palynological data reveal the intermittent proximity of grounded ice to Site U1521. The erosion rate calculated from this sediment package greatly exceeds the long-term mean, implying rapid erosion of West Antarctica. This interval therefore captures a key step in the genesis of a marine-based WAIS and a tipping point in Antarctic ice-sheet evolution.


Assuntos
Camada de Gelo , Elevação do Nível do Mar/história , Água do Mar/análise , Regiões Antárticas , Modelos Climáticos , História Antiga
12.
Public Health ; 195: 7-14, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34022664

RESUMO

OBJECTIVES: This study aimed to analyze behavioral patterns of protective and risk factors for chronic non-communicable diseases (NCDs) among adults and to explore the association between these patterns and sociodemographic characteristics using data from the National Health Survey 2013. STUDY DESIGN: This was a cross-sectional study. METHODS: This is a population-based study, nationwide, of individuals aged ≥18 years (n = 60,202). The sampling process used was grouping with three selection stages: census sector, households, and individuals. The factor analysis by principal component was used to identify behavioral patterns of protective and risk factors for NCDs. Linear regression was used to explore the association between patterns and sociodemographic characteristics. RESULTS: Two behavioral patterns were identified: a 'protective pattern' featured by consumption of vegetable, fruits/natural fruit juice, and low-fat milk and recommended physical activity practice during leisure time; and a 'risk pattern' characterized by consumption of high-fat meat and soft drinks, alcohol abuse, and smoking habit. Adherence to the protective pattern was associated with older White women who had higher levels of education, were economically active, and lived in the urban areas of the country. Younger, economically active men living in the urban areas were associated with the risk patterns. CONCLUSIONS: Two behavioral patterns for NCDs have been identified and are distributed non-randomly in the adult Brazilian population. These findings are expected to contribute to better targeting health promotion and prevention of NCDs.


Assuntos
Doenças não Transmissíveis , Adolescente , Adulto , Brasil/epidemiologia , Estudos Transversais , Exercício Físico , Feminino , Humanos , Masculino , Doenças não Transmissíveis/epidemiologia , Doenças não Transmissíveis/prevenção & controle , Fatores de Risco
13.
Gynecol Obstet Fertil Senol ; 49(6): 547-552, 2021 06.
Artigo em Francês | MEDLINE | ID: mdl-33434749

RESUMO

The evolution of medical care for transgender people currently makes it possible to propose fertility preservation. Fertility preservation should be initiated before the start of hormonal treatments and/or surgical procedures. The "reproductive" aspect and the desire for parenthood among transgender people have long been ignored. However, these aspects are important to consider and fertility preservation should be discussed before the start of the physical transition. The aim of this review is to assess the literature on fertility preservation for transgender women ("male to female"). Many uncertainties remain regarding the impact of hormonal treatments on the reproductive functions of transgender women and their reversibility. However, the significant increase in the number of recently published articles is evidence of the improvement in the conditions of access to these procedures for women starting a transition process. Nevertheless, there are still a number of barriers that can prevent or delay this process.


Assuntos
Preservação da Fertilidade , Pessoas Transgênero , Criopreservação , Feminino , Humanos , Masculino , Exame Físico
14.
Neurochirurgie ; 67(1): 6-13, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30170827

RESUMO

Medulloblastoma is a frequent high-grade neoplasm among pediatric brain tumours. Its classical imaging features are a midline tumour growing into the fourth ventricle, hyperdense on CT-scan, displaying a hypersignal when using diffusion-weighted imaging, with a variable contrast enhancement. Nevertheless, atypical imaging features have been widely reported, varying according to the age of the patient, and histopathological subtype. In this study, we review the classical and atypical imaging features of medulloblastomas, with emphasis on advanced MRI techniques, histopathological and molecular subtypes and characteristics, and follow-up modalities.


Assuntos
Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/metabolismo , Imagem de Difusão por Ressonância Magnética/métodos , Meduloblastoma/diagnóstico por imagem , Meduloblastoma/metabolismo , Imagem de Perfusão/métodos , Criança , Feminino , Humanos , Masculino , Análise Espectral/métodos
15.
Ophthalmic Plast Reconstr Surg ; 37(1): e3-e5, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32501884

RESUMO

Conjunctival mucosa-associated lymphoid tissue lymphoma classically presents as a subconjunctival mass, most often in the fornix. The presence of conjunctival mucosa-associated lymphoid tissue lymphoma with spread down the nasolacrimal duct has only been reported once previously. The authors present a case of a 35-year-old woman with a right conjunctival mass in the inferior fornix along with sinus congestion and fullness. A biopsy of the conjunctival mass and the nasal turbinate revealed a conjunctival mucosa-associated lymphoid tissue lymphoma. Therefore, it is important to consider spread down the nasolacrimal duct in patients with conjunctival lymphoma also presenting with difficulty breathing or nasal congestion.


Assuntos
Obstrução Nasal , Ducto Nasolacrimal , Doenças dos Seios Paranasais , Adulto , Túnica Conjuntiva , Feminino , Humanos , Ducto Nasolacrimal/diagnóstico por imagem , Conchas Nasais
16.
AJNR Am J Neuroradiol ; 41(9): 1733-1739, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32816766

RESUMO

BACKGROUND AND PURPOSE: Focal areas of high signal intensity are T2WI/T2-FLAIR hyperintensities frequently found on MR imaging of children diagnosed with neurofibromatosis type 1, often thought to regress spontaneously during adolescence or puberty. Due to the risk of tumor in this population, some focal areas of high signal intensity may pose diagnostic problems. The objective of this study was to assess the characteristics and temporal evolution of focal areas of high signal intensity in children with neurofibromatosis type 1 using long-term follow-up with MR imaging. MATERIALS AND METHODS: We retrospectively examined the MRIs of children diagnosed with neurofibromatosis type 1 using the National Institutes of Health Consensus Criteria (1987), with imaging follow-up of at least 4 years. We recorded the number, size, and surface area of focal areas of high signal intensity according to their anatomic distribution on T2WI/T2-FLAIR sequences. A generalized mixed model was used to analyze the evolution of focal areas of high signal intensity according to age, and separate analyses were performed for girls and boys. RESULTS: Thirty-nine patients (ie, 285 MR images) with a median follow-up of 7 years were analyzed. Focal areas of high signal intensity were found in 100% of patients, preferentially in the infratentorial white matter (35% cerebellum, 30% brain stem) and in the capsular lenticular region (22%). They measured 15 mm in 95% of cases. They appeared from the age of 1 year; increased in number, size, and surface area to a peak at the age of 7; and then spontaneously regressed by 17 years of age, similarly in girls and boys. CONCLUSIONS: Focal areas of high signal intensity are mostly small (<15 mm) abnormalities in the posterior fossa or capsular lenticular region. Our results suggest that the evolution of focal areas of high signal intensity is not related to puberty with a peak at the age of 7 years. Knowledge of the predictive evolution of focal areas of high signal intensity is essential in the follow-up of children with neurofibromatosis type 1.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Lactente , Estudos Longitudinais , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Retrospectivos
17.
Ophthalmic Genet ; 41(4): 345-349, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32340510

RESUMO

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch. While rare cases of cataract occurring in the setting of TSC have been reported, this is the first analysis of a large series of individuals with TSC that aims to quantify the frequency of this finding and to describe its clinical and genetic associations. MATERIALS AND METHODS: This is a retrospective chart review of 244 patients from the Herscot Center for Tuberous Sclerosis Complex at the Massachusetts General Hospital who underwent complete ophthalmic examination. We describe the clinical and genetic findings in five individuals with TSC and juvenile cataract. RESULTS: Four of five cases (80%) were unilateral. The cataract was described as having an anterior subcapsular component in 3 of 5 cases (60%). Three individuals (60%) underwent lensectomy with intraocular lens (IOL) implant and two individuals (40%) were observed. Genetic testing revealed a known disease-causing mutation in TSC2 in 100% of cases. CONCLUSIONS: Recent evidence suggests that mTOR signaling may play a role in cataract formation which could explain the relatively high incidence of juvenile cataract in this population. Juvenile cataract is a potentially under-recognized ocular manifestation of TSC.


Assuntos
Catarata/patologia , Mutação , Proteína 2 do Complexo Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia , Adulto , Catarata/complicações , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Esclerose Tuberosa/complicações
18.
Bull Acad Natl Med ; 204(6): 583-588, 2020 Jun.
Artigo em Francês | MEDLINE | ID: mdl-32322104

RESUMO

Dementias, and Alzheimer's disease (AD) in particular, will increasingly become a public health issue. However, three major data may change the severity of these pathologies: in young adults, simple measures of healthy lifestyle (control of vascular risk factors, physical activity and cognitive stimulation), have an impact on a future cognitive decline; the same lifestyle interventions may delay the start of the disease for elderly people potentially at-risk; finally, and for the first time, a monoclonal antibody directed against amyloid lesions has just shown a significant effect on the progression of AD in patients at an early stage of the disease. According to these results, we will have to reconsider the strategy for managing minor or severe cognitive disorders and particularly AD. Nowadays, patients start the care process too late. The solution is to act earlier, even preventively. It is necessary to improve a care offer adapted to this new situation in order to impact on the disease as soon as possible, even before the onset of symptoms, based on: 1) predictive algorithms aimed at establishing whose cognitively unimpaired individuals may further develop the disease; these algorithms will be based on demographic, family, cognitive, genomic and biological data, such as in the "Santé Cerveau" project developed in partnership with the Health Regional Agency (ARS) and the general practitioners; 2)and on some expert centers which must become "dementia prevention clinics" to test prevention measures, initiate and validate multi-domain therapeutic education programs; to disclose about the risk in response to the request of worried patients; and to propose early pharmacological treatments if these individuals are on the way to declare AD in the coming months, taking into account competition between risks. This will allow to prepare to make use of new pharmacological treatments that might be discovered.

19.
Ophthalmic Plast Reconstr Surg ; 36(6): 557-561, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32205778

RESUMO

PURPOSE: To evaluate the change in lateral canthal angle (LCA), inferior ocular surface exposed (IOSE), lower eyelid curvature, and margin-to-reflex distance 2 in those undergoing lower eyelid ectropion repair using a lateral tarsal strip technique. METHODS: This is an Institutional Review Board-approved retrospective analysis of patients undergoing lower eyelid ectropion repair. This study included all patients from 2012 to 2018 operated on by a single surgeon at the University of Texas Southwestern Medical Center. For each patient, LCA, IOSE, and eyelid curvature were measured on preoperative and postoperative photographs using NIH Image J photographic analysis. These measurements were compared using paired 1-tail t-tests for LCA and IOSE and paired 2-tail t-tests for eyelid curvature. This study was Health Insurance Portability and Accountability Act-compliant with protection of individually identifiable information. RESULTS: Fifty-one patients with lower eyelid ectropion underwent lower eyelid ectropion repair using a lateral tarsal strip technique. Forty-three of the patients underwent a bilateral lower eyelid ectropion repair. There was no statistically significant difference in the LCA. There was a reduction in IOSE among both cohorts. The fourth degree polynomial trendlines generated to assess eyelid curvature demonstrated statistical significance, suggesting a flattening of eyelid curvature. margin-to-reflex distance 2 also had a statistically significant decrease postoperatively. CONCLUSIONS: Lower eyelid ectropion repair using a lateral tarsal strip approach causes a reduction in IOSE, a more gradual lower eyelid curvature, and a decrease in margin-to-reflex distance 2 without causing a statistically significant change in LCA.


Assuntos
Blefaroplastia , Ectrópio , Aparelho Lacrimal , Ectrópio/cirurgia , Pálpebras/cirurgia , Humanos , Estudos Retrospectivos , Técnicas de Sutura
20.
Gynecol Obstet Fertil Senol ; 48(4): 351-358, 2020 04.
Artigo em Francês | MEDLINE | ID: mdl-32058045

RESUMO

OBJECTIVES: The objective of this study was to quantify the risk of maternal and perinatal morbidity with in vitro fertilization (IVF) technology compared to non-IVF pregnancies in a recent French national cohort. METHOD: The data was extracted from the hospital information data system, including all pregnancies with a delivery from 2013 to 2016. The risks of preterm birth, maternal morbidity (venous and arterial thrombosis, gestational diabetes, vascular disorders, placenta previa, placenta abruption), hypotrophy and congenital malformation were compared in both groups in univariate and multivariate analysis after adjustment on the characteristics of women (age, parity, obesity, tobacco dependence, history of diabetes or high blood pressure), multiple deliveries and sex of children. RESULTS: In all, 2,875,662 pregnancies and 2,922,712 births were analyzed, of which 49,224 were derived from IVF (1.7%). In multivariate analysis, all risks were significantly higher in IVF: premature deliveries (ORajusted=1.28; CI95%=1.24-1.32), maternal morbidity (ORajusted=1.24; CI95%=1.21-2.28), (mainly for thrombosis venous, placenta previa and placenta abruption). The risks of hypotrophy (ORajusted=1.13; CI95%=1.10-1.16) and congenital malformations (ORajusted=1.11; CI95%=1.05-1.17) were slightly increased. CONCLUSION: The results of this study on a large cohort of recent births in France confirm that there was an increased risk of maternal and perinatal morbidities in IVF. These risks were similar to those published in the international literature. This study is the starting point for a forthcoming surveillance.


Assuntos
Fertilização in vitro/estatística & dados numéricos , Resultado da Gravidez/epidemiologia , Adulto , Estudos de Coortes , Anormalidades Congênitas/epidemiologia , Feminino , França/epidemiologia , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Gravidez , Complicações na Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Adulto Jovem
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