RESUMO
A reabilitação de maxilas atróficas representa desafio complexo, levando à busca de abordagens inovadoras. Procedimentos convencionais, como levantamento de seio maxilar, têm limitações, impulsionando o interesse em implantes zigomáticos. Contudo, complicações persistem, especialmente em áreas de concavidade acentuada. Este relato de caso visa demonstrar a eficácia de uma abordagem cirúrgica inovadora, combinando implantes zigomáticos e transnasais, para superar as limitações anatômicas e alcançar resultados estéticos e funcionais satisfatórios. Paciente de 58 anos, sexo feminino, desdentada total, foi submetida à reabilitação no Instituto Rosenvaldo Moreira, devido à atrofia maxilar pronunciada. Foram propostos dois planos de tratamento, envolvendo implantes zigomáticos e transnasais. A cirurgia, realizada em ambiente ambulatorial sob sedação intravenosa e anestesia local, incluiu a instalação sequencial de implantes transnasais e zigomáticos, com especial atenção à usinagem do terço cervical para prevenir complicações. A abordagem cirúrgica empregada, combinando implantes zigomáticos e transnasais, revelou-se eficaz na reabilitação da maxila atrófica. A usinagem cuidadosa contribuiu para evitar complicações, evidenciando estabilidade e ausência de inflamações peri-implantares no acompanhamento de um ano. Este relato oferece uma contribuição valiosa, destacando a viabilidade e sucesso dessa abordagem inovadora em situações desafiadoras de atrofia maxilar na implantodontia.
The rehabilitation of atrophic jaws represents a complex challenge, leading to the search for innovative approaches. Conventional procedures, such as sinus lifts, have limitations, driving interest in zygomatic implants. However, complications persist, especially in areas of pronounced concavity. This case report aims to demonstrate the effectiveness of an innovative surgical approach, combining zygomatic and transnasal implants, to overcome anatomical limitations and achieve satisfactory aesthetic and functional results. A 58-year-old female patient, completely toothless, underwent rehabilitation at the Instituto Rosenvaldo Moreira, due to pronounced maxillary atrophy. Two treatment plans were proposed, involving zygomatic and transnasal implants. The surgery, performed in an outpatient setting under intravenous sedation and local anesthesia, included the sequential installation of transnasal and zygomatic implants, with special attention to machining the cervical third to prevent complications. The surgical approach used, combining zygomatic and transnasal implants, proved to be effective in the rehabilitation of the atrophic maxilla. Careful machining helped to avoid complications, demonstrating stability and absence of peri-implant inflammation in the one-year follow-up. This report offers a valuable contribution, highlighting the feasibility and success of this innovative approach in challenging situations of maxillary atrophy in implant dentistry.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Reabilitação , Atrofia , Osseointegração , Resultado do Tratamento , MaxilaRESUMO
Increased oxidative stress and apoptosis are key mechanisms of thymic atrophy induced by cyclophosphamide (CYP). Atrophy leads to changes in the thymic microenvironment and disrupts T cell maturation. The hormone melatonin displays antioxidant and antiapoptotic effects. Here, we tested the hypothesis that melatonin would act as a cytoprotective agent against the harmful effects of CYP in the thymus. A single dose of CYP (300 mg/kg; ip) was injected in male C57BL/6 mice pretreated or not with melatonin (10 mg/kg/day, ip) for 4 days. Atrophy, oxidative stress and apoptosis markers, and T cell subpopulations were evaluated in the thymus 24 h after CYP injection. Melatonin partially prevented atrophy and the increase in caspase 3 activity induced by CYP. Augmented lipoperoxidation and generation of NADPH-oxidase derived superoxide (O2 â¢-), as well as decreased superoxide dismutase (SOD) activity, were detected in the thymus of CYP-injected mice. Pretreatment with melatonin abrogated these responses. CYP reduced the number of double-positive (CD4+CD8+) cells, activated single-positive (CD8+ and CD4+) cells, and regulatory CD4+FoxP3+ (Treg) cells in the thymus. None of these effects were reversed by melatonin. In conclusion, melatonin partially prevented thymic atrophy, possibly by reducing apoptosis and oxidative stress. However, melatonin did not abrogate the immunomodulatory effect of CYP on T cell populations. The lack of effect of melatonin on CYP-induced reduction in Treg cells may be of interest since these cells reduce antitumor immunity.
Assuntos
Atrofia , Ciclofosfamida , Melatonina , Camundongos Endogâmicos C57BL , Estresse Oxidativo , Timo , Animais , Melatonina/farmacologia , Ciclofosfamida/farmacologia , Timo/efeitos dos fármacos , Timo/patologia , Masculino , Camundongos , Atrofia/induzido quimicamente , Estresse Oxidativo/efeitos dos fármacos , Apoptose/efeitos dos fármacos , Linfócitos T/efeitos dos fármacos , Linfócitos T/metabolismo , Linfócitos T/imunologiaRESUMO
BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive ataxia. Although previous studies have focused on cerebral and cerebellar damage, spinal cord involvement in SCAs remains underexplored. OBJECTIVES: This study aims to characterize spinal cord abnormalities in SCA2, SCA3, and SCA6 and to identify its phenotypic correlates. METHODS: We conducted a multimodal spinal neuroimaging study on 26 SCA3, 16 SCA2, and 14 SCA6 patients, along with matched healthy controls. MRI scanning was performed using a 3 Tesla device, and the Spinal Cord Toolbox (SCT) was employed for morphometric and diffusivity analyses of the cervical spinal cord. RESULTS: Our findings revealed significant spinal cord atrophy and altered white matter microstructural metrics in SCA3 and SCA2 patients compared to controls, with no abnormalities in SCA6. A strong negative correlation was observed between cross-sectional cord area and disease duration in SCA2, suggesting its potential as a biomarker for disease progression. CONCLUSIONS: This study highlights the importance of spinal cord imaging in understanding the pathophysiology of SCAs and demonstrates the utility of MRI-based metrics in identifying structural deviations and their clinical correlates. Further longitudinal studies are needed to validate these findings and explore their implications for clinical trials and therapeutic interventions.
Assuntos
Ataxias Espinocerebelares , Humanos , Masculino , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/patologia , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Imageamento por Ressonância Magnética , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Atrofia/patologia , Doença de Machado-Joseph/diagnóstico por imagem , Doença de Machado-Joseph/patologia , Imagem de Tensor de Difusão , Ataxina-2RESUMO
Diabetic nephropathy (DN) is one of the most relevant and prevalent microvascular complications associated with Diabetes Mellitus. In recent years, hyperbaric oxygen therapy (HBO) has been used to mitigate tissue damage caused by hypoxia, thereby attenuating inflammatory processes. This study aimed to explore morphological aspects associated with DN in rats subjected to HBO. Forty-eight Wistar rats were divided into the following groups: C (normoglycemic animals), n = 12; C + HBO (normoglycemic animals submitted to HBO), n = 12; D (diabetic animals) n = 12; D + HBO (diabetic animals submitted to HBO), n = 12. The C + HBO and D + HBO groups were daily treated with HBO at 2.5 atmospheres absolute pressure (ATA) for 60 min, 5 days a week, for 5 weeks. Kidneys were collected for assessment of structural changes in the tissue parenchyma, assessment of renal fibrosis and renal protein expression of tumor necrosis factor-α (TNF-α) and transforming growth factor-ß1 (TGF-ß1). Our results showed that group D had hyperglycemia and weight loss, and that there was also an increase in the renal corpuscle, Bowman's space, and distal tubular epithelium, as well as accumulation of collagen. HBO administration effectively prevented glomerular hypertrophy and attenuated the expression of TNF-α and TGF-ß1. It also positively affected renal tubules, inhibiting the development of tubular atrophy. These findings suggest that HBO was effective in attenuating the initial alterations observed in DN.
Assuntos
Atrofia , Diabetes Mellitus Experimental , Nefropatias Diabéticas , Oxigenoterapia Hiperbárica , Ratos Wistar , Fator de Crescimento Transformador beta1 , Animais , Oxigenoterapia Hiperbárica/métodos , Fator de Crescimento Transformador beta1/metabolismo , Diabetes Mellitus Experimental/terapia , Diabetes Mellitus Experimental/metabolismo , Diabetes Mellitus Experimental/complicações , Ratos , Masculino , Nefropatias Diabéticas/terapia , Nefropatias Diabéticas/metabolismo , Nefropatias Diabéticas/patologia , Fibrose , Fator de Necrose Tumoral alfa/metabolismo , Túbulos Renais/patologia , Túbulos Renais/metabolismo , Rim/patologia , Rim/metabolismoRESUMO
Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.Arg205Gln) in a 45-year-old Brazilian patient presenting with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay. This is the first case to associate a DHDDS variant with hippocampal atrophy on neuroimaging. After adjustments in anticonvulsant therapy, seizure control was achieved, and the patient-who was previously unable to walk due to frequent falls attributed to myoclonic jerks-showed significant improvement in gait and mobility.
Assuntos
Atrofia , Hipocampo , Humanos , Pessoa de Meia-Idade , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/complicações , Epilepsia/genética , Epilepsia/complicações , Hipocampo/patologia , Mutação/genética , FenótipoRESUMO
Calcified cysticerci are often associated with hippocampal atrophy (HA). While most studies suggest that repetitive seizures cause HA in these patients, others have demonstrated that HA may also occur in persons without epilepsy. Little is known about mechanisms triggering HA in seizure-free individuals with calcified cysticerci. Here, we aimed to assess whether the size of the calcification is associated with HA. Using a population-based design, we selected apparently seizure-free individuals with a single calcified cysticercus in whom interictal paroxysmal activity and other causes of HA have been discarded. A total of 55 individuals (mean age, 58.3 ± 13 years, 62% women) fulfilled inclusion criteria. Unadjusted and multivariate models were fitted to assess the association between the size of the calcification dichotomized into <3 mm and ≥3 mm (exposure) and the presence of HA (outcome). Sixteen participants (29%) had HA, which was asymmetric in eight (50%) cases. Hippocampal atrophy was noted in 11/20 (55%) participants with large calcifications and in 5/35 (14%) with small calcifications (P = 0.001). A multivariate logistic regression model showed a significant association between the presence of large calcifications and HA, after adjustment for relevant confounders (odds ratio: 7.78; 95% CI: 1.72-35.1). Participants with calcifications ≥3 mm in diameter were 7.8 times more likely to have HA than those with smaller ones. Study results open avenues of research for the use of agents to prevent HA progression.
Assuntos
Atrofia , Calcinose , Hipocampo , Humanos , Feminino , Hipocampo/patologia , Masculino , Pessoa de Meia-Idade , Atrofia/patologia , Calcinose/patologia , Idoso , Neurocisticercose/complicações , Neurocisticercose/patologia , Neurocisticercose/diagnóstico por imagem , Adulto , Convulsões/patologia , Encéfalo/patologia , Encéfalo/diagnóstico por imagemRESUMO
Rehabilitation of edentulous atrophic mandibles involves the placement of implants in the anterior segment of the mandible. The primary stability of these implants can be improved using the base of the mandible as complementary anchorage (bicorticalization). This study aimed to analyze the biomechanics of atrophic mandibles rehabilitated with monocortical or bicortical implants. Two three-dimensional virtual models of edentulous mandibles with severe atrophy were prepared. Four monocortical implants were placed in one model (McMM), and four bicortical implants were placed in the other (BcMM). An implant-supported total prosthesis was prepared for each model. Then, a total axial load of 600 N was applied to the posterior teeth, and its effects on the models were analyzed using finite element analysis. The highest compressive stresses were concentrated in the cervical region of the implants in the McMM (-32.562 Mpa); in the BcMM, compressive stresses were distributed in the upper and lower cortex of the mandible, with increased compressive stresses at the distal implants (-63.792 Mpa). Thus, we conclude that axial loading forces are more uniformly distributed in the peri-implant bone when using monocortical implants and concentrated in the apical and cervical regions of the peri-implant bone when using bicortical implants.
Assuntos
Implantes Dentários , Análise de Elementos Finitos , Mandíbula , Humanos , Mandíbula/cirurgia , Atrofia , Prótese Dentária Fixada por Implante , Arcada Edêntula/reabilitação , Fenômenos Biomecânicos , Análise do Estresse DentárioRESUMO
Prevention and treatment protocols for taste changes observed during hematopoietic cell transplantation (HCT) are not well-established. The purpose of this study was to assess the efficacy of photobiomodulation (PBM) in relieving taste changes and preventing lingual papillae atrophy. HCT patients received PBM (n = 42) on the tongue dorsum using an InGaAIP laser (660 nm, 100 mW, 1.1 W/cm2, 8.8 J/cm2). During the HCT conditioning (T0), severe neutropenia (T1), and after neutrophil engraftment (T2), taste acuity for sweet, bitter, sour, and salty solutions, and clinical appearance of lingual papillae were compared with those of a placebo group (n = 43). PBM significantly reduced hypogeusia, ageusia, and parageusia at T1 and T2, and also successfully prevented papillae atrophy during all the analyzed HCT periods. In conclusion, PBM enhanced taste acuity during HCT. The decrease in papillae atrophy indicated a potential regenerative effect of this therapy on tongue mucosa.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Terapia com Luz de Baixa Intensidade , Paladar , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Paladar/efeitos da radiação , Língua/efeitos da radiação , Língua/patologia , Atrofia , Distúrbios do Paladar/etiologia , Adulto Jovem , Idoso , Papilas Gustativas/efeitos da radiaçãoRESUMO
PURPOSE: Tumors affecting the female genital tract and their treatments have the potential to induce adverse modifications in vaginal health and impact personal aspects of patient's lives. Vulvovaginal atrophy is one of the morphological changes observed in individuals with a history of gynecological cancer, influenced both by the biological environment of tumors and the main therapeutic modalities employed. Therefore, the purpose of this study was to identify approaches to treat vulvovaginal atrophy while assessing the impact on the emotional and sexual health of women diagnosed with gynecological cancers. METHODS: To achieve this goal, a systematic review was conducted following the methodological guidelines outlined by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The databases used for literature research were PubMed and Web of Science. RESULTS: Initially, 886 articles were obtained. After eliminating duplicates and applying inclusion/exclusion criteria, seven articles were selected for analysis. The period of highest publication activity spanned from 2017 to 2020, with the majority conducted in Italy. Five treatment modalities were identified and categorized as vaginal suppository, oral medication, surgical procedure, CO2 laser therapy, and vaginal dilator. Twenty-four outcomes related to vaginal health and 30 outcomes related to overall, sexual, and emotional quality of life were analyzed. CONCLUSION: In general, all interventions demonstrated the ability to improve vaginal health or, at the very least, the sexual health of patients. Thus, despite limitations, all treatments have the potential to address vulvovaginal atrophy in patients with a history of gynecological cancer.
Assuntos
Atrofia , Neoplasias dos Genitais Femininos , Qualidade de Vida , Vagina , Vulva , Humanos , Feminino , Neoplasias dos Genitais Femininos/terapia , Neoplasias dos Genitais Femininos/psicologia , Neoplasias dos Genitais Femininos/patologia , Vagina/patologia , Vulva/patologia , Doenças Vaginais/terapia , Doenças Vaginais/patologia , Lasers de Gás/uso terapêutico , Supositórios , Administração IntravaginalRESUMO
Focal atrophy of the left anterior temporal lobe has been associated with the semantic type of primary progressive aphasia evolving to semantic dementia. In contrast, focal atrophy of the right temporal lobe has more recently been described as a controverse entity reported as the right temporal variant of FTD. We describe two cases of FTD dementia syndromes: in Case 1, atrophy of the right temporal lobe led to significant behavioural impairment and difficulties in recognizing known people. In Case 2, atrophy of the left temporal lobe was associated with severe aggressive, ritualistic behaviour and aphasia.
Assuntos
Demência Frontotemporal , Lobo Temporal , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia , Demência Frontotemporal/complicações , Demência Frontotemporal/diagnóstico por imagem , Demência Frontotemporal/patologia , Lateralidade Funcional/fisiologia , Imageamento por Ressonância Magnética , Testes Neuropsicológicos , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/patologiaRESUMO
Objective: Evaluate histological changes in testicular parameters after hormone treatment in transgender women. Methods: Cross-section study with patients who underwent gonadectomy at Hospital de Clínicas de Porto Alegre from 2011 to 2019. Hormone treatment type, route of administration, age at initiation and duration were recorded. Atrophy parameters were observed: testicular volume, tubular diameter, basal membrane length, presence of spermatogonia and spermatids (diploid and haploid spermatozoid precursors). Results: Eighty-six patients were included. Duration of hormone treatment is associated with testicular atrophy and spermatogenesis arrest. Other characteristics of hormone treatment such as age of initiation, route of administration and type of treatment were not associated with testicular histological changes. Testicular volume may predict spermatogenesis arrest. Basal membrane length and tubular diameter ratio is an interesting predictor of germ cell presence. Conclusion: Cross-sex hormone treatment affects testicular germ cell presence. Basal membrane length and tubular diameter ratio reduces inter variability of measurements and better exemplify how atrophic seminiferous tubules are. Fertility preservation should be addressed by healthcare providers in order to recognize gender affirming treatment impact on transgender health.
Assuntos
Testículo , Pessoas Transgênero , Humanos , Masculino , Feminino , Adulto , Estudos Transversais , Testículo/patologia , Testículo/efeitos dos fármacos , Espermatogênese/efeitos dos fármacos , Preservação da Fertilidade , Adulto Jovem , AtrofiaRESUMO
We aimed to study atrophy and glucose metabolism of the cholinergic basal forebrain in non-demented mutation carriers for autosomal dominant Alzheimer's disease (ADAD). We determined the level of evidence for or against atrophy and impaired metabolism of the basal forebrain in 167 non-demented carriers of the Colombian PSEN1 E280A mutation and 75 age- and sex-matched non-mutation carriers of the same kindred using a Bayesian analysis framework. We analyzed baseline MRI, amyloid PET, and FDG-PET scans of the Alzheimer's Prevention Initiative ADAD Colombia Trial. We found moderate evidence against an association of carrier status with basal forebrain volume (Bayes factor (BF10) = 0.182). We found moderate evidence against a difference of basal forebrain metabolism (BF10 = 0.167). There was only inconclusive evidence for an association between basal forebrain volume and delayed memory and attention (BF10 = 0.884 and 0.184, respectively), and between basal forebrain volume and global amyloid load (BF10 = 2.1). Our results distinguish PSEN1 E280A mutation carriers from sporadic AD cases in which cholinergic involvement of the basal forebrain is already detectable in the preclinical and prodromal stages. This indicates an important difference between ADAD and sporadic AD in terms of pathogenesis and potential treatment targets.
Assuntos
Doença de Alzheimer , Prosencéfalo Basal , Heterozigoto , Mutação , Tomografia por Emissão de Pósitrons , Presenilina-1 , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Feminino , Masculino , Presenilina-1/genética , Pessoa de Meia-Idade , Colômbia , Prosencéfalo Basal/metabolismo , Prosencéfalo Basal/patologia , Prosencéfalo Basal/diagnóstico por imagem , Imageamento por Ressonância Magnética , Adulto , Atrofia , Idoso , Teorema de BayesRESUMO
Obesity is a chronic disease caused by excessive fat accumulation that impacts the body and brain health. Insufficient leptin or leptin receptor (LepR) is involved in the disease pathogenesis. Leptin is involved with several neurological processes, and it has crucial developmental roles. We have previously demonstrated that leptin deficiency in early life leads to permanent developmental problems in young adult mice, including an imbalance in energy homeostasis, alterations in melanocortin and the reproductive system and a reduction in brain mass. Given that in humans, obesity has been associated with brain atrophy and cognitive impairment, it is important to determine the long-term consequences of early-life leptin deficiency on brain structure and memory function. Here, we demonstrate that leptin-deficient (LepOb) mice exhibit altered brain volume, decreased neurogenesis and memory impairment. Similar effects were observed in animals that do not express the LepR (LepRNull). Interestingly, restoring the expression of LepR in 10-week-old mice reverses brain atrophy, in addition to neurogenesis and memory impairments in older animals. Our findings indicate that leptin deficiency impairs brain development and memory, which are reversible by restoring leptin signalling in adulthood.
Assuntos
Encéfalo , Leptina , Neurogênese , Receptores para Leptina , Animais , Receptores para Leptina/deficiência , Receptores para Leptina/genética , Receptores para Leptina/metabolismo , Camundongos , Encéfalo/metabolismo , Leptina/deficiência , Leptina/metabolismo , Neurogênese/fisiologia , Camundongos Knockout , Camundongos Endogâmicos C57BL , Masculino , Transtornos da Memória/metabolismo , Transtornos da Memória/genética , Atrofia/patologiaRESUMO
Industrialized environments, despite benefits such as higher levels of formal education and lower rates of infections, can also have pernicious impacts upon brain atrophy. Partly for this reason, comparing age-related brain volume trajectories between industrialized and non-industrialized populations can help to suggest lifestyle correlates of brain health. The Tsimane, indigenous to the Bolivian Amazon, derive their subsistence from foraging and horticulture and are physically active. The Moseten, a mixed-ethnicity farming population, are physically active but less than the Tsimane. Within both populations (N = 1024; age range = 46-83), we calculated regional brain volumes from computed tomography and compared their cross-sectional trends with age to those of UK Biobank (UKBB) participants (N = 19,973; same age range). Surprisingly among Tsimane and Moseten (T/M) males, some parietal and occipital structures mediating visuospatial abilities exhibit small but significant increases in regional volume with age. UKBB males exhibit a steeper negative trend of regional volume with age in frontal and temporal structures compared to T/M males. However, T/M females exhibit significantly steeper rates of brain volume decrease with age compared to UKBB females, particularly for some cerebro-cortical structures (e.g., left subparietal cortex). Across the three populations, observed trends exhibit no interhemispheric asymmetry. In conclusion, the age-related rate of regional brain volume change may differ by lifestyle and sex. The lack of brain volume reduction with age is not known to exist in other human population, highlighting the putative role of lifestyle in constraining regional brain atrophy and promoting elements of non-industrialized lifestyle like higher physical activity.
Assuntos
Encéfalo , Indígenas Sul-Americanos , Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Idoso de 80 Anos ou mais , Bolívia/epidemiologia , Feminino , Estudos Transversais , Tamanho do Órgão , Tomografia Computadorizada por Raios X , Envelhecimento/fisiologia , Estilo de Vida , AtrofiaRESUMO
In patients with complete double renal system with the involvement of only one system, there are several surgical alternatives for its resolution. Uretero-ureteral anastomosis has been presented as a good alternative, even in cases with atrophy of the affected system. OBJECTIVE: To report our experience in patients with complete double renal system with only one system affected, with the surgical technique of uretero-ureteral anastomosis. PATIENTS AND METHOD: Retrospective study of patients with double renal system with involvement of one of the systems, treated with uretero-ureteral anastomosis technique between January 2015 and May 2022. The variables of age, specific pathology of the affected system, preoperative study, days of hospitalization, postoperative complications (leakage, obstruction, infection), and follow-up time were evaluated. RESULTS: We analyzed 26 procedures in 25 patients, mean age 36.8 months (range: 8-80); 53.8% had ectopic ureter, 23% ureterocele, 11.5% sphincteric ureterocele, and 11.5% VUR of the lower system. All were studied preoperatively with urethrocystography and 65% with scintigraphy. 50% of the operated systems showed signs of renal atrophy. The average hospital stay was 2.2 days (range: 1-7). In an average follow-up of 26.5 months (range: 3-77), one patient presented leakage, no patient presented signs suggestive of obstruction, and one patient presented febrile urinary tract infection with persistent lower-grade reflux. CONCLUSION: In our experience, the uretero-ureteral anastomosis technique proved to be an easy and safe alternative to reproduce, with a success rate of 96%, 11% of grade I complications, and 4% of grade II complications according to the Clavien-Dindo classification.
Assuntos
Nefropatias , Ureter , Ureterocele , Humanos , Pré-Escolar , Ureter/cirurgia , Ureterocele/complicações , Ureterocele/cirurgia , Estudos Retrospectivos , Ureterostomia/métodos , Atrofia/complicaçõesRESUMO
INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.
This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.
Assuntos
Síndrome de Alagille , Proteína Jagged-1 , Humanos , Síndrome de Alagille/genética , Síndrome de Alagille/complicações , Síndrome de Alagille/diagnóstico , Síndrome de Alagille/patologia , Proteína Jagged-1/genética , Masculino , Criança , Tomografia de Coerência Óptica , Doenças da Coroide/genética , Doenças da Coroide/diagnóstico , Angiofluoresceinografia , Acuidade Visual/fisiologia , Atrofia , Macula Lutea/patologia , Macula Lutea/anormalidades , Corioide/patologia , Corioide/anormalidadesRESUMO
The influence of brain atrophy on sleep microstructure in Spinocerebellar Ataxias (SCAs) has not been extensively explored limiting the use of these sleep traits as surrogate biomarkers of neurodegeneration and clinical phenotype. The objective of the study is to explore the relationship between sleep microstructure and brain atrophy in SCA2 and its role in the clinical phenotype. Fourteen SCA2 mutation carriers (7 pre-manifest and 7 manifest subjects) underwent polysomnographic, structural MRI, and clinical assessments. Particularly, markers of REM and non-REM sleep microstructure, measures of cerebellar and brainstem atrophy, and clinical scores were analyzed through correlation and mediation analyses. The sleep spindle activity exhibited a negative correlation with the number of trials required to complete the verbal memory test (VMT), and a positive correlation with the cerebellar volume, but the significance of the latter correlation did not survive multiple testing corrections. However, the causal mediation analyses unveiled that sleep spindle activity significantly mediates the association between cerebellar atrophy and VMT performance. Regarding REM sleep, both phasic EMG activity and REM sleep without atonia exhibited significant associations with pontine atrophy and disease severity measures. However, they did not demonstrate a causal mediation effect between the atrophy measures and disease severity. Our study provides evidence about the association of the pontocerebellar atrophy with sleep microstructure in SCA2 offering insights into the cerebellar involvement in cognition via the control of the sleep spindle activity. Therefore, our findings may help to understand the disease pathogenesis and to better characterize sleep microstructure parameters as disease biomarkers.Clinical trial registration number (TRN): No applicable.
Assuntos
Atrofia , Encéfalo , Imageamento por Ressonância Magnética , Fenótipo , Polissonografia , Ataxias Espinocerebelares , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia/patologia , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Sono/fisiologia , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/fisiopatologia , Ataxias Espinocerebelares/patologia , Ataxias Espinocerebelares/genéticaRESUMO
The congenital Zika syndrome (CZS) has been characterized as a set of several brain changes, such as reduced brain volume and subcortical calcifications, in addition to cognitive deficits. Microcephaly is one of the possible complications found in newborns exposed to Zika virus (ZIKV) during pregnancy, although it is an impacting clinical sign. This study aimed to investigate the consequences of a model of congenital ZIKV infection by evaluating the histopathology, blood-brain barrier, and neuroinflammation in pup rats 24 h after birth, and neurodevelopment of the offspring. Pregnant rats were inoculated subcutaneously with ZIKV-BR at the dose 1 × 107 plaque-forming unit (PFU mL-1) of ZIKV isolated in Brazil (ZIKV-BR) on gestational day 18 (G18). A set of pups, 24 h after birth, was euthanized. The brain was collected and later evaluated for the histopathology of brain structures through histological analysis. Additionally, analyses of the blood-brain barrier were conducted using western blotting, and neuroinflammation was assessed using ELISA. Another set of animals was evaluated on postnatal days 3, 6, 9, and 12 for neurodevelopment by observing the developmental milestones. Our results revealed hippocampal atrophy in ZIKV animals, in addition to changes in the blood-brain barrier structure and pro-inflammatory cytokines expression increase. Regarding neurodevelopment, a delay in important reflexes during the neonatal period in ZIKV animals was observed. These findings advance the understanding of the pathophysiology of CZS and contribute to enhancing the rat model of CZS.
Assuntos
Microcefalia , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Gravidez , Humanos , Feminino , Ratos , Animais , Infecção por Zika virus/complicações , Infecção por Zika virus/diagnóstico , Zika virus/fisiologia , Complicações Infecciosas na Gravidez/patologia , Barreira Hematoencefálica/patologia , Doenças Neuroinflamatórias , Microcefalia/etiologia , Microcefalia/patologia , Atrofia/patologia , Hipocampo/patologiaRESUMO
INTRODUCTION: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington's disease. CASE REPORT: A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.
TITLE: Enfermedad de Huntington de inicio en la infancia. Una presentación poco frecuente.Introducción. La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico. Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión. La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación.
Assuntos
Coreia , Disfunção Cognitiva , Doença de Huntington , Humanos , Adulto , Feminino , Criança , Pré-Escolar , Atrofia , Gânglios da BaseRESUMO
OBJECTIVE: To compare the effect of noninvasive radiofrequency (RF) with vaginal estrogen (E), and vaginal moisturizer (M) on improving vulvovaginal atrophy (VVA) in women with genitourinary syndrome of menopause. METHODS: A total of 32 postmenopausal women who met the inclusion criteria were randomized into three intervention arms to receive one of the following treatments: three sessions of noninvasive RF therapy (RF arm); intravaginal estriol cream 1 mg applied daily for 2 weeks, followed by 1 mg applied two times weekly or 1 mg of estradiol vaginal fast-dissolving film applied daily for 2 weeks, followed by 1 mg applied two times weekly (E arm); and intravaginal moisturizer two times a week (M arm). Assessments at baseline and after 4 months were conducted using Vaginal Health Index score, Vaginal Maturation, visual analog scale for VVA symptoms (dyspareunia, dryness, and burning), and Menopause Rating Scale (MRS) for urogenital symptoms. Vaginal wall biopsies were administered to participants who consented, pretreatment and posttreatment (at baseline and after 4 months of follow-up). RESULTS: After 4 months, the Vaginal Health Index showed an increase of 6.6 points in mean total score in the RF arm, also in the E arm (+7.3 points), with no significant improvement in the M arm (+1.5 points) (interaction effect: RF, E ≠ M, P < 0.001). Regarding vaginal maturation, there was a significant increase in superficial cells in the E arm (+31.3), with no significant changes in the RF (+9.3) and M (-0.5) arms (interaction effect: E ≠ M, P < 0.001). Vaginal pH decreased significantly in the E arm (-1.25), with a similar response in the RF arm (-1.7), with no significant improvement in the M arm (-0.25) (interaction effect: RF, E ≠ M, P < 0.001).There was a significant improvement in the MRS score for VVA symptoms in the three intervention arms, with no predominance of any arm, whereas the improvement in the total MRS score for urogenital symptoms showed a predominance of the RF arm (ΔRF: -7.8; ΔE: -3.5; ΔM: -2.3; RF ≠ E, M). According to histopathologic analysis, there was no statistically significant increase in glycogenation ( P = 0.691) or epithelial cone height ( P = 0.935), despite an increase in the median delta (difference between pretreatment and posttreatment) in the three intervention arms (glycogenation: RF arm Δ = +118.4%; E arm Δ = +130.9%; M arm Δ = +24.9%; epithelial cone height: RF arm Δ = +33.5%; E arm Δ = +18.6%; M arm Δ = +22.3%). CONCLUSION: The effect of noninvasive RF on the treatment of vulvovaginal symptoms of genitourinary syndrome of menopause was similar to vaginal estrogen, except for hormonal cytology, and superior to vaginal moisturizer, with improvement in some histomorphometric parameters. These findings are promising, especially for the population that cannot or prefers not to use vaginal estrogen therapy.