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INTRODUCTION: Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy. PATIENTS AND METHODS: We reviewed the clinical features of patients diagnosed with POLG pathogenic variants from a tertiary hospital. RESULTS: Three men and one woman (mean age: 40 years; 27-46) with no family history were studied with symptoms for 10 years. All patients developed a gait disturbance related to sensory ataxia. All patients had oculomotor abnormalities. The neurophysiological study showed a sensory axonal neuropathy. Brain magnetic resonance imaging studies showed atrophy and cerebellar white matter lesion and muscle magnetic resonance imaging showed fatty substitution in thigh and calf muscles without a specific pattern. A molecular study revealed pathogenic variants in the POLG gene. CONCLUSIONS: In cases of adult-onset sensory ataxia, the molecular analysis of the POLG gene should be considered, especially if associated with sensory neuropathy or ophthalmoparesis.
TITLE: Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG.Introducción. La ataxia sensitiva es un síntoma frecuente en numerosas patologías neurológicas con causas múltiples y es una manifestación clínica frecuente en enfermedades relacionadas con genes que influyen en el metabolismo mitocondrial, como POLG. El objetivo del presente trabajo es describir las características diferenciales de cuatro pacientes con variantes patógenas en el gen POLG y expresión clínica común en forma de ataxia y neuropatía sensitiva de inicio en la edad adulta. Pacientes y métodos. Se realizó una revisión de las características clínicas de los pacientes portadores de variantes patógenas en el gen POLG de una consulta de enfermedades neuromusculares en un hospital de tercer nivel. Resultados. Se estudió a tres varones y una mujer de edad adulta (edad media: 40 años; 27-46) sin antecedentes familiares reseñables, con una duración de los síntomas de en torno a 10 años. El síntoma que motivó la consulta fue una alteración de la marcha en relación con ataxia sensitiva. Todos los pacientes presentaban anomalías oculomotoras. El estudio neurofisiológico evidenció una neuropatía sensitiva de predominio axonal. La resonancia magnética cerebral mostró atrofia y lesión de la sustancia blanca cerebelosa. La resonancia magnética muscular mostró sustitución grasa en músculos de muslos y gemelos sin un patrón específico. Todos ellos fueron portadores (homocigotos o heterocigotos compuestos) de variantes patógenas en el gen POLG. Conclusiones. El análisis molecular del gen POLG es una posibilidad diagnóstica prioritaria que se debe considerar en casos de ataxia sensitiva de inicio en la edad adulta, especialmente si se asocia a neuropatía sensitiva u oftalmoparesia.
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Ataxia Cerebelosa , Enfermedades del Sistema Nervioso Periférico , Adulto , Femenino , Humanos , Masculino , Ataxia/genética , ADN Polimerasa gamma/genética , ADN Polimerasa Dirigida por ADN/genética , Mutación , Enfermedades del Sistema Nervioso Periférico/genética , Persona de Mediana EdadRESUMEN
OBJECTIVES: The aim of our study is to demonstrate that the Pfannenstiel incision is a reliable option in terms of postoperative complications compared to other types of incisions usually performed for kidney extraction after laparoscopic nephrectomy. MATERIALS AND METHODS: Retrospective and comparative study of 256 patients who underwent laparoscopic nephrectomy or nephroureterectomy. Patients were divided into two groups: specimen extraction by Pfannenstiel incision (group 1) and specimen extraction by way of other incisions (group 2). Incisional hernia, surgical site infection, pain score, seroma, haematoma/bleeding, wound dehiscence and muscle paralysis were analyzed in each patient. RESULTS: Patients in Pfannenstiel group presented a rate of wound complications of 11.72% vs. 27.34% with other incisions, p=0.002, it was significantly inferior the rate of wound dehiscence (5.5% vs. 12.5%, p=0.047) and seroma (3.1% vs. 7.8%, p=0.022). Using multivariate logistic regression, Pfannenstiel incision was a significant protective predictor factor for wound complications (OR=0.34, p=0.005). CONCLUSIONS: The Pfannenstiel incision allowed the extraction of bigger kidney masses with less incidence of dehiscence, seroma and in general wound complications. The hospital stay was lower in Pfannenstiel extraction group. These results present this incision as a reliable and safe option in the decision of which incision to select.
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Laparoscopía , Seroma , Humanos , Estudios Retrospectivos , Seroma/cirugía , Laparoscopía/métodos , Riñón/cirugía , Nefrectomía/métodosRESUMEN
INTRODUCTION: The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent. METHODS: We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings. RESULTS: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11. CONCLUSIONS: We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.
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INTRODUCTION: CD47 over expression has been reported in several tumor subtypes. CD47 interacts with SIRPalpha on macrophages inhibiting phagocytic signal, providing a survival advantage to tumor. CD47, therefore, represents a valuable target for immunotherapy and is currently under clinical investigation. We aimed to study CD47 expression in Hodgkin Reed Sternberg cells (HRS). METHODS: We tested a polyclonal CD47 antibody (LifeSpan Biosciences, Seattle, WA) expression along with classical HRS cell markers on a tissue array of 16 classical Hodgkin Lymphoma (CHL) tumor biopsies obtained from newly diagnosed, non-selected patients (8 Female, 8 Male patients) in our institution from October 2016 to January 2018. Histologic subtypes were nodular sclerosis in 11 cases, mixed Cellularity in 3 cases and lymphocyte rich in 2 additional cases. Median age was 53 years (Range: 8, 74). Early stage disease was found in three patients without unfavorable prognostic factors according to EORTC and GHSG criteria, one patient with unfavorable prognostic factors and nine patients had advanced disease. Bulk disease was present in one patient. Normal lymphoid tissue and normal prostate epithelium were used as normal controls as recommended by manufacturer. Approval from the Local Ethical committee was obtained before any analysis. RESULTS: CD47 was overexpressed on all HRS cells with a characteristic dot-like pattern in 13/13 cases of CHL. HRS clearly expressed CD47 more intensely than infiltrating T and stromal cells. DISCUSSION: We propose that HRS cells, by up-regulating CD47, might avoid innate immunity check on tumor growth, which could be circumvented using blocking monoclonal antibodies.
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Antígeno CD47/metabolismo , Enfermedad de Hodgkin/patología , Células de Reed-Sternberg/metabolismo , Adolescente , Adulto , Anciano , Biomarcadores de Tumor/metabolismo , Niño , Femenino , Enfermedad de Hodgkin/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Análisis de Matrices Tisulares , Adulto JovenRESUMEN
The interaction of lectin-like transcript 1 (LLT1) with CD161 inhibits Natural Killer cell activation. Overexpression of LLT1 contributes to the immunosuppressive properties of tumor cells. However, there are little data about LLT1 expression in human solid tumors. The objective of this paper is to investigate the relationship between LLT1 expression with the clinicopathologic features and its impact on the prognosis of head and neck cutaneous squamous cell carcinoma (cSCC). LLT1 expression was analyzed on paraffin-embedded tissue samples obtained from 100 patients with cSCC by immunohistochemistry. The estimator of Fine and Gray was used to estimate the cumulative incidence curves for relapse. Proportional Hazard models and Hazard ratios (HRs) were used for studying the risk of tumor relapse and mortality. LLT1 strong expression was a significant risk factor for nodal metastasis with crude and adjusted ratios (HRs) of 3.40 (95% CI 1.39-9.28) and 3.25 (95% CI 1.15-9.16); and for cSCC specific death of 6.17 (95% CI 1.79-21.2) and 6.10 (95% CI 1.45-25.7). Strong LLT1 expression is an independent predictor of nodal metastasis and poor disease-specific survival and it might be helpful for risk stratification of patients with cSCC.
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Biomarcadores de Tumor/metabolismo , Lectinas Tipo C/metabolismo , Metástasis Linfática/patología , Receptores de Superficie Celular/metabolismo , Neoplasias Cutáneas/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Anciano , Anciano de 80 o más Años , Supervivencia sin Enfermedad , Estudios de Factibilidad , Femenino , Humanos , Incidencia , Estimación de Kaplan-Meier , Masculino , Recurrencia Local de Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/epidemiología , Pronóstico , Medición de Riesgo/métodos , Factores de Riesgo , Piel/patología , Neoplasias Cutáneas/mortalidad , Carcinoma de Células Escamosas de Cabeza y Cuello/mortalidadAsunto(s)
Linfoma de Células B Grandes Difuso/diagnóstico , Debilidad Muscular/diagnóstico , Insuficiencia Respiratoria/diagnóstico , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células B Grandes Difuso/patología , Debilidad Muscular/etiología , Debilidad Muscular/patología , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/patologíaRESUMEN
BACKGROUND: Sentinel lymph node biopsy and wide local excision of the primary melanoma (SLNB) is now a standard staging procedure for patients with melanomas 1 mm or more in thickness, but its therapeutic benefit is not clear. OBJECTIVE: To determine whether there is an association between performance of SLNB and patient prognosis. METHODS: Studies assessing the association between performance of SLNB and patient prognosis were pooled from MEDLINE, EMBASE, PubMed, Cochrane Database of Systematic Reviews and Google Scholar. From each study, first author's last name, publication year, origin country, type of study design, characteristics of participants and the Hazard risk (HR) for melanoma specific survival (MSS) with the corresponding 95% confidence interval (95% CI) were collected. Methodological assessment of the studies was evaluated using the Newcastle-Ottawa scale (NOS) and the 'Risk of bias' tool detailed in the Cochrane Handbook for Systematic Reviews of Interventions. Meta-analyses for the global HR were performed. In addition, in order to explore the sources of heterogeneity among the studies, sensitivity analyses are also provided. RESULTS: A total of six studies with 8764 patients who had undergone SLNB and 11054 patients who had undergone wide location excision alone (WLEA) were identified for the analysis. The indicators suggest that the heterogeneity is low: τ2 = 0; H = 1 [1; 1.74]; I2 = 0% [0%; 66.5%]. Evidence for publication bias was not found (Egger's test P = 0.4654). The pooled MSS HR from fixed effects analysis was determined to be 0.88 (95% CI = 0.80-0.96). CONCLUSIONS: Although no significant survival difference was observed in four of the six series, the pooling summary data from all the studies that deal with this issue suggested that SLNB is associated with a significantly better outcome compared with WLEA for localized melanoma.
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Melanoma/patología , Melanoma/cirugía , Biopsia del Ganglio Linfático Centinela/métodos , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Humanos , PronósticoAsunto(s)
Neoplasias Faciales/diagnóstico , Melanoma Amelanótico/diagnóstico , Tumor Rabdoide/diagnóstico , Neoplasias Cutáneas/diagnóstico , Anciano de 80 o más Años , Neoplasias Faciales/cirugía , Resultado Fatal , Frente/cirugía , Humanos , Masculino , Márgenes de Escisión , Melanoma Amelanótico/cirugía , Tumor Rabdoide/cirugía , Neoplasias Cutáneas/cirugía , Colgajos QuirúrgicosRESUMEN
Several observational studies have assessed the correlation between Merkel cell carcinoma and Merkel cell polyomavirus with variable results. The objective of this systematic review was to determine whether there is a correlation between Merkel cell carcinoma and Merkel cell polyomavirus. Studies assessing the relationship between Merkel cell carcinoma and Merkel cell polyomavirus from January 2008 to August 2014 were pooled from Medline, Embase, PubMed, Cochrane Database of Systemic Reviews and Google Scholar. From each study we collected the first author's last name, publication year, country of origin, type of study design, characteristics of participants, possible variables incorporated into the multivariable analyses and the risk ratio (RR) for Merkel cell carcinoma associated with Merkel cell polyomavirus combined with the corresponding 95% confidence interval (CI). Methodological assessment of the study was evaluated using the Newcastle-Ottawa scale. Crude RR was calculated from the data provided in each article. Meta-analyses for the global RR and for the proportion of positives in both case and control samples were performed. In addition, in order to explore the sources of heterogeneity among the studies, meta-regression and sensitivity analyses are also provided. A total of 22 studies were identified for the analysis. The pooled RR from random-effects analysis was determined to be 6.32 (95% CI, 4.02-9.93). Global proportions of positive samples were 0.79 (95% CI, 0.72-0.84) and 0.12 (95% CI, 0.08-0.19) in the case and control groups, respectively. The findings support the association between Merkel cell carcinoma and Merkel cell polyomavirus. However, a non-negligible percentage of positive results have been identified in controls. Some caution must be taken in the interpretation of these results because heterogeneity between studies was found.
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Carcinoma de Células de Merkel/complicaciones , Poliomavirus de Células de Merkel , Infecciones por Polyomavirus/complicaciones , Neoplasias Cutáneas/complicaciones , Infecciones Tumorales por Virus/complicaciones , HumanosRESUMEN
Complete androgen insensitivity syndrome is an extremely infrequent disease. The patients exhibit female phenotype because of insensitivity to the androgen receptor and may develop tumors, especially in their undescended gonads. We report a case of bilateral Sertoli cell adenoma in gonads with unilateral serous cystadenoma, in an elderly phenotypic woman with primary amenorrhea. We also provide radiological and pathological studies.
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Síndrome de Resistencia Androgénica/genética , Cistadenoma Seroso/patología , Neoplasias Ováricas/patología , Tumor de Células de Sertoli/patología , Síndrome de Resistencia Androgénica/complicaciones , Biomarcadores de Tumor/análisis , Biopsia , Cistadenoma Seroso/química , Cistadenoma Seroso/genética , Cistadenoma Seroso/cirugía , Femenino , Predisposición Genética a la Enfermedad , Humanos , Inmunohistoquímica , Masculino , Neoplasias Ováricas/química , Neoplasias Ováricas/genética , Neoplasias Ováricas/cirugía , Fenotipo , Tumor de Células de Sertoli/química , Tumor de Células de Sertoli/genética , Tumor de Células de Sertoli/cirugía , Tomografía Computarizada por Rayos XRESUMEN
Myxomas are rare mesenchymal tumors that can appear in many anatomical locations, although they are mainly seen in heart and skin. To date, only twelve cases of pure renal myxomas have been reported in the literature. We describe a case of a young Cuban woman with an asymptomatic irregular cyst lesion in her left kidney which was eventually diagnosed as renal myxoma. We also provide radiological and pathological studies.