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1.
Adv Gerontol ; 34(1): 134-143, 2021.
Artículo en Ruso | MEDLINE | ID: mdl-33993674

RESUMEN

The data of clinical examination of 3 329 people (1 760 men and 1 569 women) living in various regions of the Russian Federation (St. Petersburg and Leningrad region, Moscow and Moscow region, Krasnodar Territory) are presented. The aim of the investigation was to study the frequency of tooth loss and clinical manifestations of atrophy of the alveolar processes (parts) of the jaws in patients of older age groups to assess the possibility of dental rehabilitation using orthopedic structures on dental implants. The study of the prevalence and degree of atrophy showed that in the older age group, patients of senile age were more dominated by 4 and 5 degrees of atrophy, the frequency of their occurrence was about 20-30%. The incidence of grade 6 atrophy was also higher than in other age groups, it was found in 17,22% of men and 17,81% of women in the upper jaw and 22,18% and 15,79% in the lower jaw, respectively. Despite the fact that the number of patients in older age groups with complete or partial loss of teeth does not tend to decrease, at the present stage of development of dentistry and dental implantology, the possibility of restoring the integrity of the masticatory apparatus with the use of artificial supports is possible in virtually all clinical cases. The presence of comorbid or multimorbid pathology is not an absolute contraindication, but is only a temporary factor that postpones dental rehabilitation until the general somatic status of the patient is stabilized.


Asunto(s)
Maxilares , Mandíbula , Anciano , Atrofia , Femenino , Humanos , Masculino , Moscú , Federación de Rusia/epidemiología
2.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 52(3): 531-533, 2021 May.
Artículo en Chino | MEDLINE | ID: mdl-34018377

RESUMEN

The patient, a 25-year-old woman, was seen at our hospital 6 years ago, complaining of weakness and stiffness in the left side of the body and left limbs for 1 + years. Physical examination revealed atrophy of the upper and lower limbs on the left side. Neurological examination showed increased muscle tone in the left-side body and limbs, bradykinesia, decreased muscle strength in the left-side body and limbs, and positive Hoffman's sign in the left limbs. Laboratory tests, including alpha fetoprotein (AFP), ß-human chorionic gonadotropin (HCG) and cerebrospinal fluid examination, did not reveal any abnormal results. Head MRI showed right cerebral hemiatrophy. Head and neck CT angiography did not show obvious abnormality. According to the medical history and examination results, diagnosis of hemiparkinsonism-hemiatrophy syndrome was made. Through close follow-up for 6 years, we noticed that the parkinsonism remained unilateral and stable, and the contralateral cerebral hemiatrophy did not show obvious progress. However, brain perfusion MRI showed hypoperfusion of the right basal ganglia. The discovery of hypoperfusion in the basal ganglia may help explore the etiology of hemiparkinsonism-hemiatrophy syndrome.


Asunto(s)
Trastornos Parkinsonianos , Adulto , Atrofia , Ganglios Basales/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/diagnóstico por imagen
3.
Int J Mol Sci ; 22(9)2021 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-33947043

RESUMEN

Neonatal arterial ischemic stroke is one of the more severe birth complications. The injury can result in extensive neurological damage and is robustly associated with later diagnoses of cerebral palsy (CP). An important part of efforts to develop new therapies include the on-going refinement and understanding of animal models that capture relevant clinical features of neonatal brain injury leading to CP. The potent vasoconstrictor peptide, Endothelin-1 (ET-1), has previously been utilised in animal models to reduce local blood flow to levels that mimic ischemic stroke. Our previous work in this area has shown that it is an effective and technically simple approach for modelling ischemic injury at very early neonatal ages, resulting in stable deficits in motor function. Here, we aimed to extend this model to also examine the impact on cognitive function. We show that focal delivery of ET-1 to the cortex of Sprague Dawley rats on postnatal day 0 (P0) resulted in impaired learning in a touchscreen-based test of visual discrimination and correlated with important clinical features of CP including damage to large white matter structures.


Asunto(s)
Isquemia Encefálica/complicaciones , Parálisis Cerebral/etiología , Modelos Animales de Enfermedad , Endotelina-1/toxicidad , Vasoconstrictores/toxicidad , Animales , Animales Recién Nacidos , Aprendizaje por Asociación , Atrofia , Isquemia Encefálica/inducido químicamente , Isquemia Encefálica/patología , Recuento de Células , Corteza Cerebral/patología , Parálisis Cerebral/patología , Trastornos del Conocimiento/etiología , Cuerpo Estriado/patología , Endotelina-1/administración & dosificación , Inflamación , Inyecciones , Microglía/patología , Trastornos del Movimiento/etiología , Neuronas/patología , Trastornos de la Percepción/etiología , Ratas , Ratas Sprague-Dawley , Prueba de Desempeño de Rotación con Aceleración Constante , Vasoconstrictores/administración & dosificación , Sustancia Blanca/patología
4.
Int J Mol Sci ; 22(9)2021 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-33947115

RESUMEN

Cortisol, a stress hormone, plays key roles in mediating stress and anti-inflammatory responses. As abnormal cortisol levels can induce various adverse effects, screening cortisol and cortisol analogues is important for monitoring stress levels and for identifying drug candidates. A novel cell-based sensing system was adopted for rapid screening of cortisol and its functional analogues under complex cellular regulation. We used glucocorticoid receptor (GR) fused to a split intein which reconstituted with the counterpart to trigger conditional protein splicing (CPS) in the presence of targets. CPS generates functional signal peptides which promptly translocate the fluorescent cargo. The sensor cells exhibited exceptional performance in discriminating between the functional and structural analogues of cortisol with improved sensitivity. Essential oil extracts with stress relief activity were screened using the sensor cells to identify GR effectors. The sensor cells responded to peppermint oil, and L-limonene and L-menthol were identified as potential GR effectors from the major components of peppermint oil. Further analysis indicated L-limonene as a selective GR agonist (SEGRA) which is a potential anti-inflammatory agent as it attenuates proinflammatory responses without causing notable adverse effects of GR agonists.


Asunto(s)
Técnicas Biosensibles , Evaluación Preclínica de Medicamentos/métodos , Polarización de Fluorescencia/métodos , Hidrocortisona/análisis , Aceites Volátiles/farmacología , Receptores de Glucocorticoides/agonistas , Atrofia , Acetato de Ciproterona/farmacología , Dexametasona/farmacología , Estradiol/farmacología , Fluorometría , Células HeLa , Humanos , Inteínas , Limoneno/farmacología , Proteínas Luminiscentes/análisis , Mentol/farmacología , Mifepristona/farmacología , Estructura Molecular , Músculo Esquelético/patología , Mioblastos/efectos de los fármacos , Aceites Vegetales/farmacología , Empalme de Proteína , Transporte de Proteínas , Proteínas Recombinantes de Fusión/genética , Proteínas Recombinantes de Fusión/metabolismo
5.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 39(3): 286-292, 2021 Jun 01.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-34041877

RESUMEN

OBJECTIVES: This study aims to evaluate the short-term clinical outcomes and patient satisfaction of anterior and pterygoid implants in the rehabilitation of edentulous maxilla with posterior atrophy. METHODS: Given a minimum follow-up of 1 year, 25 patients with fixed maxillary rehabilitation over anterior and pterygoid implants were enrolled in this retrospective study. The implant survival rates, peri-implant soft tissue status (including probing depth, modified sulcus bleeding index, and plaque index), marginal bone loss, and patient satisfaction were measured. RESULTS: The survival rates for anterior and pterygoid implants at 1-year follow-up were 96.5% and 97.8%, respectively (P>0.05). No statistically significant difference in probing depth, modified sulcus bleeding index, and plaque index was observed between the two types of implants (P>0.05). The marginal bone losses of anterior implants were 0.62 mm± 0.44 mm (mesial) and 0.61 mm± 0.40 mm (distal), and those of pterygoid implants were 0.64 mm± 0.46 mm (mesial) and 0.68 mm± 0.41 mm (distal) mm. These results showed no statistical difference in mesial and distal sites (P>0.05). Patients indicated a high degree of satisfaction with the full-arch prostheses supported by anterior and pterygoid implants. CONCLUSIONS: For the edentulous maxilla with posterior atrophy, full-arch fixed prostheses supported by anterior and pterygoid implants has an acceptable short-term clinical outcome and excellent patient satisfaction. It may be considered as a predictable and feasible method for maxillary rehabilitation.


Asunto(s)
Implantes Dentales , Arcada Edéntula , Atrofia/patología , Implantación Dental Endoósea , Prótesis Dental de Soporte Implantado , Estudios de Seguimiento , Humanos , Arcada Edéntula/patología , Arcada Edéntula/cirugía , Maxilar/patología , Maxilar/cirugía , Estudios Retrospectivos , Resultado del Tratamiento
6.
BMJ Case Rep ; 14(5)2021 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-34031074

RESUMEN

Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenital disease caused by mutations in the RBBM10 gene. It has a low prevalence and a high rate of mortality in the neonatal stage. In this case report, we present a case of a 32-week gestational age preterm newborn with a prenatal diagnosis of intrauterine growth restriction, with a persistent left superior vena cava, interatrial communication and a horseshoe kidney. Additionally, postnatal optic nerve atrophy was diagnosed. By using exome sequencing, the pathogenic variant c.1877del; p.his626Lefus*78 was identified in the RMB10 gene. Due to a lack of reports in the medical literature, the phenotype has not fully been described. Here, we report on a patient with TARP syndrome and a previously unreported mutation, c.1877del; p.his627Leufs*78, which is predicted to generate a truncated and/or protein decay of the RBM10 transcript.


Asunto(s)
Pie Equinovaro , Defectos del Tabique Interatrial , Síndrome de Pierre Robin , Atrofia , Cardiopatías Congénitas , Humanos , Recién Nacido , Nervio Óptico/diagnóstico por imagen , Proteínas de Unión al ARN , Vena Cava Superior
7.
Wiad Lek ; 74(2): 367-370, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33813502

RESUMEN

The aim was to analyze the contemporary scientific literature on Devic's opticomyelitis and to present a case report from our clinical practice. Based on the patient's complaints, case history and features of clinical course, objective neurological status, clinical laboratory and additional examination methods, characteristic MR-patterns, consultations of related specialists and differential diagnostics, we made the clinical diagnosis according to ICD-10: G36.0 Devic's opticomyelitis, exacerbation, with a sustained bilateral lesion of the optic nerves in the form of retrobulbar neuritis with the development of partial atrophy of the optic nerves in both eyes, spinal cord lesions with common cystic, cicatrical and atrophic alterations at C1-Th8 level with moderate lower paraparesis, expressed by sensory ataxia, sensory disturbances by the descending conductive type from Th10, impaired function of pelvic organs by the type of acute urinary retention, asthenic and neurotic syndrome. Widespread cases of demyelinating pathology in medical practice and complexity of differential diagnostics determine the need for a specific diagnostic algorithm. This algorithm should consider anamnestic data along with the course of the disease, clinical, laboratory and instrumental examination, including neuroimaging, analysis of CSF for oligoclonal bands, analysis for IgG antibodies to AQP4, which will allow to carry out diagnostics and to decide on tactics for further management of patients of this cohort. Further research is needed to conduct additional studies for optimization of tactics for dynamics monitoring and improvement of diagnostic, treatment and rehabilitation measures in patients with Devic's opticomyelitis, including appropriate immunological control, given the complexity of differential diagnostics and the affinity of this pathology to multiple sclerosis.


Asunto(s)
Esclerosis Múltiple , Neuromielitis Óptica , Atrofia , Diagnóstico Diferencial , Humanos , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/diagnóstico , Neuromielitis Óptica/diagnóstico
8.
Medicine (Baltimore) ; 100(15): e25403, 2021 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-33847637

RESUMEN

ABSTRACT: Brain atrophy has been observed in perinatally HIV-infected patients (PHIV) despite initiation on combined antiretroviral treatment (cART), but neuroimaging studies are limited. We aimed to evaluate cortical thickness (CT) and subcortical gray matter (GM) volumes of PHIV youths with stable immunovirological situation and with a normal daily performance.A prospective cross-sectional study was conducted. A total of 25 PHIV patients on cART and 25 HIV-negative (HIV-) controls matched by age, sex, level of education, and socioeconomic status underwent a magnetic resonance imaging scan. CAT12 toolbox was used to extract CT values from T1w images using parcellations from Desikan-Killiany atlas (DK40). To measure regional brain volumes, native segmented images were parceled in regions of interest according to the Neuromorphometrics Atlas. Neuropsychological assessment and psychopathological symptoms were documented.Fifty participants were included (60% females, median age 20 years [interquartile range, IQR 19-23], 64% Whites). No differences regarding neuropsychological tests or psychopathological symptoms were found between groups (all P > .05). All participants presented an average performance in the Fluid Intelligence (FI) test (PHIV mean: -0.12, HIV- mean: 0.24), When comparing CT, PHIV-infected patients showed thinner cortices compared with their peers in fusiform gyrus (P = .000, P = .009), lateral-orbitofrontal gyrus (P = .006, P = .0024), and right parsobitalis gyrus (P = .047). Regarding subcortical GM volumes, PHIV patients showed lower right amygdala (P = .014) and left putamen (P = .016) volumes when compared with HIV- controls. Within the PHIV group, higher CD4 count was associated with higher volumes in right putamen (B = 0.00000038, P = .045). Moreover, increased age at cART initiation and lower nadir CD4 count was associated with larger volumes in left accumbens (B = 0.0000046, P = .033; B = -0.00000008, P = .045, respectively).PHIV patients showed thinner cortices of areas in temporal, orbito-frontal and occipital lobes and lower volumes of subcortical GM volumes when compared with the HIV- control group, suggesting cortical and subcortical brain alterations in otherwise neuroasymptomatic patients. Nevertheless, larger and longitudinal studies are required to determine the impact of HIV on brain structure in PHIV patients and to further identify risk and protective factors that could be implicated.


Asunto(s)
Sustancia Gris/patología , Infecciones por VIH/fisiopatología , Infecciones por VIH/transmisión , Transmisión Vertical de Enfermedad Infecciosa/estadística & datos numéricos , Factores de Edad , Antirretrovirales/uso terapéutico , Atrofia , Ganglios Basales/diagnóstico por imagen , Ganglios Basales/patología , Recuento de Linfocito CD4 , Estudios Transversales , Femenino , Sustancia Gris/diagnóstico por imagen , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/epidemiología , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Prospectivos , Factores Socioeconómicos , Adulto Joven
9.
Neuron ; 109(8): 1243-1245, 2021 04 21.
Artículo en Inglés | MEDLINE | ID: mdl-33887187

RESUMEN

TREM2 variants increase the risk for Alzheimer's disease. In this issue of Neuron, Lee et al. demonstrate that TREM2-dependent microglial functions prevent accumulation and spreading of tau, but only in the presence of amyloid pathology. This provides additional fuel for the amyloid cascade hypothesis and supports a protective function of microglia.


Asunto(s)
Enfermedad de Alzheimer , Péptidos beta-Amiloides , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Péptidos beta-Amiloides/metabolismo , Atrofia/patología , Encéfalo/metabolismo , Humanos , Glicoproteínas de Membrana , Microglía/metabolismo , Receptores Inmunológicos/genética
10.
Saudi Med J ; 42(4): 391-398, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33795494

RESUMEN

OBJECTIVES: To determine the demographic and clinical characteristics, underlying comorbidities, and outcomes of children with coronavirus disease 2019 (COVID-19) infection. METHODS: In this retrospective study, we reported 62 pediatric patients (age <14 years) with confirmed COVID-19 between March 2 and July 1, 2020, at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. RESULTS: Comorbid conditions, including cardiac, neurological, respiratory, and malignant disorders, were reported in 9 patients (14.5%). The most prominent presenting complaints were fever (80.6%) and cough (48.4%). Most of our patients (80.6%) had mild disease, 11.3% had moderate disease, and 8.1% exhibited severe and critical illness. Twenty-one patients (33.9%) were hospitalized, with 4 patients (6.5%) admitted to the pediatric intensive care unit, and 3 (4.8%) patients died. CONCLUSION: All pediatric age groups are susceptible to COVID-19, with no gender difference. COVID-19 infection may result in critical illness and even mortality in subsets of pediatric patients.


Asunto(s)
/fisiopatología , Dolor Abdominal/fisiopatología , Adolescente , Asma/epidemiología , Atrofia , Encéfalo/patología , Bronquiolitis Obliterante/epidemiología , /epidemiología , Niño , Preescolar , Comorbilidad , Tos/fisiopatología , Diarrea/fisiopatología , Disnea/fisiopatología , Femenino , Fiebre/fisiopatología , Cardiopatías Congénitas/epidemiología , Mortalidad Hospitalaria , Hospitalización , Humanos , Hidrocefalia/epidemiología , Lactante , Unidades de Cuidado Intensivo Pediátrico , Masculino , Faringitis/fisiopatología , Respiración Artificial , Insuficiencia Respiratoria/fisiopatología , Insuficiencia Respiratoria/terapia , Estudios Retrospectivos , Arabia Saudita/epidemiología , Índice de Severidad de la Enfermedad , Vómitos/fisiopatología
11.
Int J Mol Sci ; 22(7)2021 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-33805296

RESUMEN

The aim of this study was to compare the patterns of cerebellar alterations associated with bipolar disease with those induced by the presence of cerebellar neurodegenerative pathologies to clarify the potential cerebellar contribution to bipolar affective disturbance. Twenty-nine patients affected by bipolar disorder, 32 subjects affected by cerebellar neurodegenerative pathologies, and 37 age-matched healthy subjects underwent a 3T MRI protocol. A voxel-based morphometry analysis was used to show similarities and differences in cerebellar grey matter (GM) loss between the groups. We found a pattern of GM cerebellar alterations in both bipolar and cerebellar groups that involved the anterior and posterior cerebellar regions (p = 0.05). The direct comparison between bipolar and cerebellar patients demonstrated a significant difference in GM loss in cerebellar neurodegenerative patients in the bilateral anterior and posterior motor cerebellar regions, such as lobules I-IV, V, VI, VIIIa, VIIIb, IX, VIIb and vermis VI, while a pattern of overlapping GM loss was evident in right lobule V, right crus I and bilateral crus II. Our findings showed, for the first time, common and different alteration patterns of specific cerebellar lobules in bipolar and neurodegenerative cerebellar patients, which allowed us to hypothesize a cerebellar role in the cognitive and mood dysregulation symptoms that characterize bipolar disorder.


Asunto(s)
Trastorno Bipolar/patología , Enfermedades Cerebelosas/patología , Cerebelo/patología , Sustancia Gris/patología , Adulto , Atrofia/diagnóstico por imagen , Atrofia/patología , Trastorno Bipolar/diagnóstico por imagen , Enfermedades Cerebelosas/diagnóstico por imagen , Cerebelo/diagnóstico por imagen , Femenino , Sustancia Gris/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades Neurodegenerativas/diagnóstico por imagen , Enfermedades Neurodegenerativas/patología
13.
J Sex Med ; 18(5): 955-965, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33896758

RESUMEN

BACKGROUND: Vulvo-Vaginal Atrophy (VVA) affects about fifty percent of postmenopausal women, contributing more vulnerable sexual and psycho-relational equilibrium. To date, no psychometric instruments have been designed to assess the impact of coital pain associated with VVA on sexual quality of life. AIM: To validate a new psychometric tool, the Gynogram, able to investigate coital pain and to quantify its impact on sexual well-being in menopause. METHODS: 214 sexually active postmenopausal women were enrolled in the study during clinical consultations in gynecological outpatient clinics in Italy. After gynecological examination and evaluation of the presence of VVA, the study sample was divided in a clinical group (103 women with certified diagnosis of VVA) and in a control group (111 women without certified diagnosis of VVA) according to the Vaginal Health Index (VHI) cut-off. Factor, Reliability and Receiving Operating Characteristics (ROC) analysis were performed in order to validate our newly created Gynogram. OUTCOMES: A structured questionnaire, named Gynogram, to assess coital pain and its impact, and the Female Sexual Function Index (FSFI). RESULTS: The factor analysis performed on the original form (80 items) reduced the Gynogram to 24 items. Reliability analysis conducted with Cronbach's Alpha coefficients showed high values in all the components (ranging from .813 to .972), both in the long and in the short form. The sensitivity analysis demonstrated that the Gynogram, with a cut-off ≤93, is able to recognize a clinically significant coital pain. With respect to the FSFI, statistically significant differences were found for all the domains. In addition, statistically significant differences were found for all the twelve factors of the Gynogram, showing that VVA profoundly affects the sexual quality of life of women in post-menopause. CLINICAL TRANSLATION: The utility of this tool consists in the possibility to improve prognosis, compliance/adherence and treatment outcomes. STRENGTHS AND LIMITATIONS: The Gynogram is able to evaluate and to quantify the impact of coital pain associated with VVA. Moreover, it can also recognize the areas of biopsychosocial functioning being more affected by this clinical condition. The main limit of the study is the impossibility to evaluate both mental health and partner's general and sexual health. CONCLUSIONS: The Gynogram is a new and validated psychometric tool able to detect the impact of symptomatic VVA on sexual quality of life among post-menopausal women, with a specific focus on the different areas of sexual functioning. Nappi RE, Graziottin A, Mollaioli A, et al. The Gynogram: A Multicentric Validation of a New Psychometric Tool to Assess Coital Pain Associated With VVA and Its Impact on Sexual Quality of Life in Menopausal Women. J Sex Med 2021;18:955-965.


Asunto(s)
Dispareunia , Calidad de Vida , Atrofia/patología , Dispareunia/diagnóstico , Dispareunia/patología , Femenino , Humanos , Italia , Dolor , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Vagina/patología , Vulva/patología
14.
Int J Mol Sci ; 22(8)2021 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-33919796

RESUMEN

Guanylate cyclase-activating protein 1 (GCAP1) is involved in the shutdown of the phototransduction cascade by regulating the enzymatic activity of retinal guanylate cyclase via a Ca2+/cGMP negative feedback. While the phototransduction-associated role of GCAP1 in the photoreceptor outer segment is widely established, its implication in synaptic transmission to downstream neurons remains to be clarified. Here, we present clinical and biochemical data on a novel isolate GCAP1 variant leading to a double amino acid substitution (p.N104K and p.G105R) and associated with cone dystrophy (COD) with an unusual phenotype. Severe alterations of the electroretinogram were observed under both scotopic and photopic conditions, with a negative pattern and abnormally attenuated b-wave component. The biochemical and biophysical analysis of the heterologously expressed N104K-G105R variant corroborated by molecular dynamics simulations highlighted a severely compromised Ca2+-sensitivity, accompanied by minor structural and stability alterations. Such differences reflected on the dysregulation of both guanylate cyclase isoforms (RetGC1 and RetGC2), resulting in the constitutive activation of both enzymes at physiological levels of Ca2+. As observed with other GCAP1-associated COD, perturbation of the homeostasis of Ca2+ and cGMP may lead to the toxic accumulation of second messengers, ultimately triggering cell death. However, the abnormal electroretinogram recorded in this patient also suggested that the dysregulation of the GCAP1-cyclase complex further propagates to the synaptic terminal, thereby altering the ON-pathway related to the b-wave generation. In conclusion, the pathological phenotype may rise from a combination of second messengers' accumulation and dysfunctional synaptic communication with bipolar cells, whose molecular mechanisms remain to be clarified.


Asunto(s)
Calcio/metabolismo , Distrofia del Cono/genética , Distrofia del Cono/fisiopatología , Proteínas Activadoras de la Guanilato-Ciclasa/genética , Mutación/genética , Células Bipolares de la Retina/patología , Células Fotorreceptoras Retinianas Bastones/patología , Transmisión Sináptica , Atrofia , Cationes , Distrofia del Cono/diagnóstico por imagen , Progresión de la Enfermedad , Electrorretinografía , Femenino , Fondo de Ojo , Guanilato Ciclasa/metabolismo , Proteínas Activadoras de la Guanilato-Ciclasa/química , Heterocigoto , Humanos , Hidrodinámica , Interacciones Hidrofóbicas e Hidrofílicas , Persona de Mediana Edad , Simulación de Dinámica Molecular , Fenotipo , Agregado de Proteínas , Estabilidad Proteica , Estructura Cuaternaria de Proteína , Células Bipolares de la Retina/metabolismo , Epitelio Pigmentado de la Retina/patología , Células Fotorreceptoras Retinianas Bastones/metabolismo , Tomografía de Coherencia Óptica
15.
Maturitas ; 148: 55-61, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33896654

RESUMEN

INTRODUCTION: Vulvovaginal atrophy (VVA) is a chronic condition caused by estrogen deficiency. It affects around 50% of postmenopausal women, reducing their general and sexual quality of life as well as the quality of their personal relationships. AIM: The aim of this clinical guide is to set out an individualized approach to the management of VVA with topical estrogens and non-hormonal preparations. MATERIALS AND METHODS: Literature review and consensus of expert opinion. SUMMARY RECOMMENDATIONS: An individualized approach is required for the management of VVA. Topical low-dose estrogens are effective and also alleviate urinary incontinence and prevent recurrent urinary tract infections. Women should not be denied long-term use of topical estrogens as long as they feel that this treatment is of benefit to them, because the safety data are reassuring. Non-hormonal preparations (lubricants and moisturizers) should be the first-line treatment for VVA in women taking adjuvant endocrine therapies for cancers considered to be hormone-dependent. They can be used over the long term.


Asunto(s)
Atrofia/tratamiento farmacológico , Estrógenos/administración & dosificación , Posmenopausia , Guías de Práctica Clínica como Asunto/normas , Enfermedades Vaginales/tratamiento farmacológico , Enfermedades de la Vulva/tratamiento farmacológico , Administración Intravaginal , Testimonio de Experto , Femenino , Humanos , Calidad de Vida
16.
Artículo en Inglés | MEDLINE | ID: mdl-33918070

RESUMEN

BACKGROUND: Radiotherapy, as a method of treatment of cervical and uterine cancers, may induce severe late-onset vaginal side effects. Unfortunately, little evidence on the management of adverse effects has been presented. This study aimed to evaluate the available interventions which reduce symptoms of vaginitis and vaginal atrophy by improving dyspareunia, mucosal inflammation, vaginal pH and vaginal dryness in women who have undergone brachytherapy or radiotherapy due to uterine or cervical malignancies. MATERIALS AND METHODS: A comprehensive literature search was performed following PRISMA guidelines. The systematic search was conducted using electronic databases, namely Scopus, Web of Science and PubMed, between October and November 2020 to identify randomized controlled trials (RCT) and, prospective randomized studies (PRS). RESULTS: The analyzed population consists of 376 patients with uterine or cervical cancer, treated with hyaluronic acid, vitamin A, vitamin E, alpha-tocopherol acetate and dienestrol. Intervention with HA along with vitamin A and vitamin E revealed advantage in endpoints such as reduced dyspareunia, vaginal mucosal inflammation, vaginal dryness, bleeding, fibrosis and cellular atypia. Administration of alpha-tocopherol acetate reduced vaginal mucosal inflammation and improved vaginal acanthosis, whereas dienestrol resulted in reduced dyspareunia, vaginal caliber and bleeding. CONCLUSIONS: Vaginal suppositories were found to be clinically effective at the management of late-onset vulvovaginal side effects after radiotherapy.


Asunto(s)
Braquiterapia , Dispareunia , Enfermedades Vaginales , Vaginitis , Atrofia , Braquiterapia/efectos adversos , Femenino , Humanos , Enfermedades Vaginales/etiología , Enfermedades Vaginales/prevención & control , Vaginitis/tratamiento farmacológico , Vaginitis/prevención & control
17.
Neurology ; 96(20): e2525-e2533, 2021 05 18.
Artículo en Inglés | MEDLINE | ID: mdl-33827962

RESUMEN

OBJECTIVE: To investigate the effects of rituximab on retinal atrophy in patients with relapsing-remitting multiple sclerosis (RRMS), we performed serial optical coherence tomography (OCT) scans among a cohort of patients with RRMS on rituximab and compared rates of ganglion cell + inner plexiform layer (GCIPL) atrophy to those observed among age- and sex-matched glatiramer acetate (GA)-and natalizumab-treated patients with RRMS and healthy controls (HCs). METHODS: In this observational study, patients with RRMS treated with a single disease-modifying therapy and HCs were followed with serial OCT for a median duration of 2.8 years. Participants with uncontrolled hypertension, diabetes mellitus, or glaucoma, and eyes with optic neuritis ≤6 months prior to baseline OCT, or during follow-up, were excluded. Statistical analyses were performed using linear mixed-effects regression. RESULTS: During the overall follow-up period, rates of GCIPL atrophy were -0.28 ± 0.11 µm/y among rituximab-treated patients with RRMS (n = 35). This was similar to GA-treated (n = 49; -0.33 ± 0.05 µm/y; p = 0.69) and natalizumab-treated patients (n = 88; -0.17 ± 0.10 µm/y; p = 0.13) and faster than HCs (n = 78; -0.15 ± 0.03 µm/y; p = 0.006). Rituximab-treated patients exhibited 0.55 ± 0.23 µm/y faster rates of GCIPL atrophy during the first 12 months of treatment, relative to afterwards (n = 25; p = 0.02), during which period GCIPL atrophy rates were -0.14 ± 0.13 µm/y. CONCLUSIONS: Retinal atrophy in RRMS is modulated by rituximab. Greater attenuation of retinal atrophy may occur after 12 months of rituximab treatment, following which time GCIPL atrophy rates are similar to those observed among natalizumab-treated patients with RRMS and HCs. Our findings raise the possibility that the neuroprotective therapeutic response with rituximab in RRMS may take up to 12 months, which should be confirmed by larger studies. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence on the difference in rate of change of the GCIPL thickness in patients with RRMS comparing rituximab to other disease-modifying therapies.


Asunto(s)
Factores Inmunológicos/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Retina/diagnóstico por imagen , Degeneración Retiniana/diagnóstico por imagen , Rituximab/uso terapéutico , Adulto , Atrofia , Estudios de Casos y Controles , Femenino , Acetato de Glatiramer/uso terapéutico , Humanos , Inmunosupresores/uso terapéutico , Masculino , Persona de Mediana Edad , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Natalizumab/uso terapéutico , Degeneración Retiniana/etiología , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica , Resultado del Tratamiento
18.
J Clin Neurosci ; 87: 80-83, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33863540

RESUMEN

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar ataxia. Previously, autonomic symptoms or dysfunction have not been reported. To evaluate subclinical autonomic dysfunction regarding thermoregulatory function in SCA, we recorded sympathetic outflow to skin in a DRPLA patient confirmed by genetic analysis. We recorded skin sympathetic nerve activity (SSNA), which was elicited and recorded by using the microneurographical technique. In results, the resting frequency of SSNA bursts was very low (8.2 ± 0.4 bursts/min [institutional normal range: 20.8 ± 2.4 bursts/min]). However, acceleration of SSNA bursts induced by mental arithmetic stress was confirmed. The amplitude of reflex bursts induced by electrical stimuli was slightly low (9.6 ± 1.6 µV [institutional normal range: 10.9 ± 2.2 µV]), and the reflex latency was mildly prolonged (872 ± 23.7 msec [institutional normal range: 761.9 ± 51.7 msec]). These results suggest potentially central autonomic dysfunction in this patient with DRPLA. To our knowledge, this is the first report to record SSNA and confirm subclinical autonomic dysfunction in a case with DRPLA.


Asunto(s)
Fibras Adrenérgicas/fisiología , Epilepsias Mioclónicas Progresivas/diagnóstico , Epilepsias Mioclónicas Progresivas/fisiopatología , Conducción Nerviosa/fisiología , Fenómenos Fisiológicos de la Piel , Piel/inervación , Atrofia , Cerebelo/patología , Estimulación Eléctrica/métodos , Femenino , Humanos , Persona de Mediana Edad , Reflejo/fisiología
19.
Ned Tijdschr Geneeskd ; 1652021 03 18.
Artículo en Holandés | MEDLINE | ID: mdl-33793128

RESUMEN

Inguinal hernia in children is caused by an incomplete obliteration of the vaginal process during the embryological development. The vaginal process can thus become a hernia sac that often contains bowel and in girls, an ovary. The diagnosis of inguinal hernia is made by history and physical examination. According to current guidelines surgical repair should be performed without delay to avoid incarceration, which gives a high risk of complications, including testicular atrophy and ischemia of vital organs. However, patients are regularly not referred adequately. We present three cases of children who developed complications of a non-repaired inguinal hernia. Additionally, the data of all children with a congenital inguinal hernia, surgically treated from January 2018 until August 2019 show that out of 243 children 13.6% presented acutely with an incarcerated inguinal hernia. Another 6% received a wrong advice from their primary care doctor and was not referred to a (pediatric) surgeon.


Asunto(s)
Hernia Inguinal/complicaciones , Hernia Inguinal/cirugía , Herniorrafia/estadística & datos numéricos , Atrofia/congénito , Niño , Preescolar , Errores Diagnósticos/efectos adversos , Femenino , Hernia Inguinal/congénito , Humanos , Intestinos/anomalías , Intestinos/patología , Isquemia/congénito , Masculino , Derivación y Consulta/estadística & datos numéricos , Testículo/anomalías , Testículo/patología , Tiempo de Tratamiento
20.
BMC Neurol ; 21(1): 148, 2021 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-33823819

RESUMEN

BACKGROUND: Neurodegenerative disorders are characterized by insidious progression with poorly-delineated long latent period. Antecedent clinical insult could rarely unmask latent neurodegenerative disorders. Here, we report an autopsy-proven case of corticobasal degeneration which was preceded by a lacunar infarction. CASE PRESENTATION: A 58-year-old man presented with acute ataxia associated with a lacunar infarction in the right paramedian pons. His ataxia persisted with additional progressive gait difficulty and left arm clumsiness. Six months later, a follow-up neurological examination showed asymmetrical bradykinesia, apraxia, dystonic posturing, postural instability, and mild ataxia of the left limbs. Cognitive examination revealed frontal executive dysfunction and visuospatial difficulties. Dopamine transporter imaging scan demonstrated bilateral reduced uptakes in mid-to-posterior putamen, more prominent on the right side. Levodopa-unresponsive parkinsonism, asymmetric limb dystonia, and ideomotor apraxia became more conspicuous, while limb ataxia gradually vanished. The patient became unable to walk without assistance after 1 year, and died 4 years after the symptom onset. Autopsy findings showed frontoparietal cortical atrophy, ballooned neurons, and phosphorylated tau-positive astrocytic plaques and neuropil threads with gliosis and neuronal loss, confirming the corticobasal degeneration. CONCLUSIONS: The case illustrates that precedent clinical events such as stroke might tip a patient with subclinical CBS into overt clinical manifestations.


Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico , Infartos del Tronco Encefálico/diagnóstico , Apraxias/diagnóstico , Atrofia/diagnóstico , Autopsia , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico
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