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BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Defect in cilia-mediated signaling activity is a crucial factor leading to cyst formation. Hence, ADPKD is regarded as a systemic disorder with multiple extrarenal complications, including cysts in other organs, for instance, the liver, pancreas, spleen, or ovaries. Interestingly, loss-of-function of primary cilia has been recently found to contribute to a malignant transformation from degenerated thyroid follicles. However, the increased incidence of thyroid nodules in ADPKD patients has not yet been fully confirmed. OBJECTIVES: To determine the incidence of thyroid lesions in patients with ADPKD in comparison to previous population studies. Moreover, we aimed to investigate if the pace of the disease progression is associated with a higher prevalence of thyroid lesions. MATERIAL AND METHODS: In 49 early-stage ADPKD patients recruited from our center, we performed ultrasonography of the thyroid glands, and laboratory evaluation of thyroids function. We compared the results with population studies. RESULTS: Twenty-three individuals had solid, cystic-solid, or cystic lesions revealed in the ultrasonography and 2 patients had a positive past medical history for thyroidectomy due to nodular goiter. In 10 patients out of the 23, only minor cysts with no clinical significance were found and 13 out of the 23 patients had solid or cystic-solid lesions, which occurred to be benign based on three years of follow-up or the biopsy of the nodule. CONCLUSIONS: We found no increased incidence of thyroid gland lesions in early ADPKD patients in comparison to previous population studies. Plausibly, mechanisms other than defective cilia signaling are involved in the risk for focal thyroid lesions formation. Moreover, the rate of progression of kidney function decline seems to be not accompanied by the higher incidence of thyroid pathology.
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Riñón Poliquístico Autosómico Dominante/complicaciones , Nódulo Tiroideo/epidemiología , Nódulo Tiroideo/etiología , Adulto , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Adulto JovenRESUMEN
The aim of the present work was to better understand the molecular mechanisms of heat acclimation processes in cereals. A large number of winter and spring wheat, barley and oat varieties were grown under either control conditions (22/20°C) or under a mild heat stress (30°C) that induce the acclimation processes. The temperature dependence of chlorophyll a fluorescence induction and gas exchange parameters showed that heat acclimation increased the thermotolerance of the photosynthetic apparatus, but these changes did not differ sharply in the winter-spring type cereals. Similarly, to wheat, elevated temperature also led to increasing transpiration rate and reduced water use efficiency in barley and oat plants. A non-targeted metabolomic analysis focusing on polar metabolites in two selected barley (winter type Mv Initium and spring type Conchita) and in two oat varieties (winter type Mv Hópehely and spring type Mv Pehely) revealed substantial differences between both the two species and between the acclimated and non-acclimated plants. Several compounds, including sugars, organic acids, amino acids and alcohols could be separated and detected. The expression level of the CYP707, HSP90, galactinol synthase, raffinose synthase and α-galactosidase genes showed genotype-dependent changes after 1 day; however, the CYP707 was the only one, which was still upregulated in at least some of the genotypes. Results suggest that heat acclimation itself does not require general induction of primary metabolites. However, induction of specific routes, e.g. the induction of the raffinose family oligosaccharides, especially the synthesis of galactinol, may also contribute the improved heat tolerance in cereals.
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Aclimatación , Grano Comestible , Clorofila A , Fotosíntesis , TemperaturaRESUMEN
The aim of the study was mycological examination of ulcerated corneal tissues from an ophthalmic patient. Tissue fragments were analyzed on potato-glucose agar (PDA) and maltose (MA) (Difco) media using standard laboratory techniques. Cultures were identified using classical and molecular methods. Macro- and microscopic colony morphology was characteristic of fungi from the genus Aspergillus (restricted growth series), most probably Aspergillus penicillioides Speg. Molecular analysis of the following rDNA regions: ITS1, ITS2, 5.8S, 28S rDNA, LSU and ß-tubulin were carried out for the isolates studied. A high level of similarity was found between sequences from certain rDNA regions, i.e. ITS1-5.8S-ITS2 and LSU, what confirmed the classification of the isolates to the species A. penicillioides. The classification of our isolates to A. penicillioides species was confirmed also by the phylogenetic analysis.The aim of the study was mycological examination of ulcerated corneal tissues from an ophthalmic patient. Tissue fragments were analyzed on potato-glucose agar (PDA) and maltose (MA) (Difco) media using standard laboratory techniques. Cultures were identified using classical and molecular methods. Macro- and microscopic colony morphology was characteristic of fungi from the genus Aspergillus (restricted growth series), most probably Aspergillus penicillioides Speg. Molecular analysis of the following rDNA regions: ITS1, ITS2, 5.8S, 28S rDNA, LSU and ß-tubulin were carried out for the isolates studied. A high level of similarity was found between sequences from certain rDNA regions, i.e. ITS1-5.8S-ITS2 and LSU, what confirmed the classification of the isolates to the species A. penicillioides. The classification of our isolates to A. penicillioides species was confirmed also by the phylogenetic analysis.
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Aspergilosis/diagnóstico , Aspergillus/clasificación , Aspergillus/aislamiento & purificación , Enfermedades de la Córnea/microbiología , Anciano de 80 o más Años , Córnea/inmunología , Córnea/microbiología , Enfermedades de la Córnea/patología , ADN de Hongos/genética , ADN Intergénico/genética , Humanos , Masculino , Filogenia , Reacción en Cadena de la Polimerasa , ARN Ribosómico 28S/genética , Análisis de Secuencia de ADNRESUMEN
The paper concerns the fungus Phoma complanata, isolated for the first time in Poland, from the roots and umbels of angelica (Archangelica officinalis) in 2009. The morphology of fungal isolates was tested on standard culture media. Moreover, the sequence analysis of ITS regions was conducted. Morphological similarity of P. complanata Polish isolates to the reference isolate obtained from CBS culture collection was determined and together with the molecular analysis confirmed the affiliation of the fungus to the species.
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Ascomicetos/aislamiento & purificación , Ascomicetos/genética , Ascomicetos/fisiología , Raíces de Plantas/microbiología , PoloniaRESUMEN
Background: Catestatin (Cts) is a peptide derived from proteolytic cleavage of chromogranin A, which exhibits cardioprotective and anti-inflammatory properties. Cts has been proposed as a potential biomarker for cardiovascular (CV) disease. Objectives: examining Cts in patients with incidentally discovered adrenocortical adenomas (AI), and its associations with CV risk factors and blood pressure (BP). Materials and methods: In this cross-sectional study, 64 AI patients without overt CV disease other than primary hypertension were recruited along with 24 age-, sex-, and body-mass-index (BMI)-matched controls with normal adrenal morphology. Laboratory, 24-h ambulatory BP monitoring, echocardiography, and common carotid artery sonography examinations were performed. Results: Unadjusted Cts was higher in AI patients (median 6.5, interquartile range: 4.9-37 ng/ml) versus controls (4.5 (3.5 - 28)), p=0.048, however, the difference was insignificant after adjusting for confounding variables. Cts was lower in subjects with metabolic syndrome than in those without it (5.2 (3.9- 6.9) vs. 25.7 (5.8-115) ng/ml, p<0.01), and in men compared to women (4.9 (4-7.4) ng/ml vs. 7 (4.8-100), p=0.015). AI patients in the lower half of Cts levels compared to those in the upper had a higher prevalence of hypertension (OR 0.15, 95% CI: 0.041-0.5, p<0.001) and metabolic syndrome (OR 0.15, 95% CI 0.041-0.5, p<0.001). In AI patients Cts correlated positively with high-density lipoprotein cholesterol (Spearman's r=0.31), negatively with BMI (r=-0.31), and 10-year atherosclerotic CV disease risk (r=-0.42). Conclusions: Our data indicate associations between CV risk factors and Cts. More clinical research is needed to apply serum Cts as a biomarker.
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Neoplasias de las Glándulas Suprarrenales , Enfermedades Cardiovasculares , Síndrome Metabólico , Masculino , Humanos , Femenino , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/epidemiología , Neoplasias de las Glándulas Suprarrenales/metabolismo , Cromogranina A , Síndrome Metabólico/complicaciones , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Estudios Transversales , Factores de RiesgoRESUMEN
INTRODUCTION: We compared motor unit potentials (MUPs) with satellite components recorded in two anterior horn disorders: amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA, types II and III). METHODS: We analyzed MUPs recorded from biceps brachii muscle, including 209 associated with ALS (12 patients) and 127 with SMA (5 patients). Simulations were applied to determine the origin of satellites in these processes. RESULTS: MUP parameters differ in ALS and SMA. Simulations indicate that the satellite potential in ALS often originated from a single fiber, whereas in SMA it originated from a group of fibers of smaller diameters than the surrounding ones. CONCLUSIONS: These results suggest that, except for neurogenic factors, the variability of muscle fiber diameters also leads to the formation of MUPs with satellites. This variability seems to be responsible for the differences in the shape of the main and satellite MUP components in ALS and SMA.
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Esclerosis Amiotrófica Lateral/fisiopatología , Neuronas Motoras/fisiología , Fibras Musculares Esqueléticas/fisiología , Atrofia Muscular Espinal/fisiopatología , Células Satélite del Músculo Esquelético/fisiología , Edad de Inicio , Anciano , Recuento de Células , Forma de la Célula , Tamaño de la Célula , Simulación por Computador , Electromiografía , Fenómenos Electrofisiológicos , Potenciales Evocados/fisiología , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVES: The aim of this simulation study was to evaluate the resulting value of jitter measured from a simulated examination recording and to analyze its dependence on both the number of SFPs contributing either to the triggering peak or the non-triggered peak, and time shifting (delays of triggering at the end-plate) of individual SFPs in these paired potentials. METHODS: We simulated potentials recorded using a concentric needle electrode with two well separated peaks, and performed a simulated examination (consisting of 50 trains of 100 discharges) with an assumed number of fibers forming peaks. For each train, fiber diameters were chosen at random within the allowed ranges. For each discharge the delay of triggering for each fiber at the end-plate was selected at random from an assumed range. The mean jitter values were calculated, together with the median and 95% quantile. RESULTS: The results suggest that jitter is related to the mean of the individual SFP shifts. CONCLUSION: These findings extend the understanding of reduced jitter measurements using a concentric needle electrode. If more than one fiber forms the peak, then jitter decreases due to averaging of individual time shifts of potentials constituting the peak, rather than due to detection of the SFP with the earliest peak.
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Contracción Muscular , Fibras Musculares Esqueléticas , Potenciales de Acción/fisiología , Electrodos , Electromiografía/métodos , Humanos , Contracción Muscular/fisiología , Fibras Musculares Esqueléticas/fisiología , AgujasRESUMEN
Catestatin is a multifunctional peptide that is involved in the regulation of the cardiovascular and immune systems as well as metabolic homeostatis. It mitigates detrimental, excessive activity of the sympathetic nervous system by inhibiting catecholamine secretion. Based on in vitro and in vivo studies, catestatin was shown to reduce adipose tissue, inhibit inflammatory response, prevent macrophage-driven atherosclerosis, and regulate cytokine production and release. Clinical studies indicate that catestatin may influence the processes leading to hypertension, affect the course of coronary artery diseases and heart failure. This review presents up-to-date research on catestatin with a particular emphasis on cardiovascular diseases based on a literature search.
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In recent years, research has emphasized the significance of mild clinical and biochemical presentations of primary aldosteronism (PA) that do not meet current diagnostic criteria of the syndrome. In this study, we assessed the prevalence of autonomous aldosterone (Ald) secretion (AAS), defined as a positive (>1.2 ng/dL/mIU/L) Ald-to-renin ratio (ADRR) combined with unsuppressed Ald (>4 ng/dL), and its associations with blood pressure (BP), cardiac function, and common carotid artery (CCA) intima-media thickness (IMT) in patients with incidentally discovered adrenal adenomas (AI), who were either normo- or hypertensive but had no other cardiovascular disease. Among 332 AI patients hospitalized between November 2018 and December 2019, 63 study participants were recruited (26 normo- and 37 hypertensive), who underwent hormonal examinations, 24 h ambulatory BP measurement, transthoracic echocardiography, and CCA IMT assessment without altering chronic medications. AAS was found in approximately 25% of subjects (seven normo- and nine hypertensive); urinary aldosterone excretion (UAldE) exceeded 10 ug/day in none of the subjects. The left ventricular mass index correlated positively with UAldE in non-diabetic patients (n = 50), and negatively with renin in those without beta blocker therapy (n = 38). The study shows that a pragmatic approach to hormonal assessment (no chronic therapy modification) may reveal patients with AAS. Screening for this subclinical PA presentation is probably more effective with a permissive ADRR than UAldE in such a setting.
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Not required for Clinical Vignette.
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Osteomalacia , Síndromes Paraneoplásicos , Humanos , Osteomalacia/diagnóstico , Osteomalacia/etiología , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/etiología , Examen FísicoRESUMEN
OBJECTIVES: The aim was to improve the identification of potentials recorded using single fiber electromyography (SFEMG) contaminated by potentials from other muscle fibers, which might affect measured jitter value, by defining more selective criteria of single fiber potential (SFP) discrimination. We were looking for solutions suitable for automatization. METHODS: Standard parameters characterizing SFP and their combinations were analyzed to define an analytical discriminating function able to verify if potentials recorded using SFEMG are due to single fiber or due to two (or more) fibers. RESULTS: The discriminating function is based on combination of standard SFP parameters. The procedure was tested on a set of simulated i.e., known data and on samples of clinical data. The tests on simulated data confirmed assumed properties of discriminating function. Preliminary results of pilot studies using patient data suggest its ability for differentiation between potentials of one fiber and contaminated ones. The procedure is suitable for automatization. CONCLUSION: Results suggest that proposed discriminating function when supplementing standard criteria would help to promote SFP recordings and enable to improve relevancy of jitter measurements and of jitter value norms.
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Fibras Musculares Esqueléticas , Potenciales de Acción , Electromiografía , HumanosRESUMEN
The aim of this study was to evaluate the involvement of a peripheral motor neuron in Parkinson Disease (PD) using the motor unit number estimation (MUNE) method, which reflects motor unit loss in motor neuron diseases. Multipoint incremental MUNE method was calculated in abductor pollicis brevis (APB) and abductor digiti minimi (ADM) in forty one (41) patients with PD and forty five (45) healthy volunteers. From the analysis, the MUNE of APB was lower in PD than in the control group, especially in the sub-group aged 60 years or older. MUNE was negatively correlated with the age of patientsfor APB, but not with the duration of the disease and advancement of PD. The loss of motor units in sporadic Parkinson's disease revealed by multipoint incremental MUNE method is considered a sign of lower motor neuron involvement, however, loss of motor neurons is slight and does not manifest equally in all muscles . Thus, the results from this experiment should be treated with concern, as it could be a landmark for further experiments.
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Enfermedad de Parkinson , Nervio Abducens , Potenciales de Acción , Pie , Humanos , Neuronas Motoras , Músculo EsqueléticoRESUMEN
BACKGROUND: Renal cell cancer may cause various paraneoplastic syndromes; however, paraneoplastic hypereosinophilia occurs exceedingly rare. Thus far, only two cases of clear cell renal cell carcinoma (CCRCC) associated with hypereosinophilia have been reported. In this paper, we present a case of paraneoplastic hypereosinophilia associated with renal cell carcinoma and a review of the reported cases of hypereosinophilia in solid tumors. METHODS: The review is based on an electronic literature search performed in the PubMed database in September 2020 with the following key terms: eosinophilia & neoplasm; eosinophilia & cancer; eosinophilia & paraneoplastic syndrome. Papers were included based on screening the titles and/or abstracts. We also included the case of our patient in the analysis. CASE PRESENTATION: A 68-year-old Caucasian female patient with recurrent CCRCC was admitted to our Clinic for exacerbating dyspnea and chest and right upper abdominal pain, accompanied by confusion. Preliminary blood tests showed an increased white blood cell count of 40,770/µl, and an increased eosinophil count of 6,530/µl indicating eosinophilia. Several tests were carried out to rule out the noncancer causes of hypereosinophilia. The temporal appearance of eosinophilia and the recurrence of CCRCC without any other apparent potential causes led to the diagnosis of paraneoplastic hypereosinophilia. Despite treating with high doses of corticosteroids, only a transient decrement in eosinophil count was observed along with further deterioration of the patient's condition. The patient succumbed to the disease 6 months following the tumor surgery and 2 months after the diagnosis of hypereosinophilia and tumor recurrence. CONCLUSION: Our observations are in agreement with the majority of reports showing that the occurrence of eosinophilia following tumor resection may indicate a poor prognosis, tumor recurrence, and rapid disease progression.
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We report a case of a 63-year-old patient with psychiatric symptoms diagnosed with coexisting DiGeorge syndrome, Fahr syndrome and Turner syndrome. To our knowledge, this is the first reported case of coexistence of DiGeorge syndrome and mosaic Turner syndrome. Basal ganglia calcification, known as Fahr syndrome, may develop in patients with DiGeorge syndrome as a consequence of calcium-phosphate balance disturbances resulting from primary hypoparathyroidism. A deletion of chromosome 22q11.2 in DiGeorge syndrome, basal ganglia calcification and, according to some research, mosaic Turner syndrome independently can lead to psychiatric disorders. A leading clinical manifestation of the genetic diseases in our patient was long-term, drug-resistant depression with sleeping disorders and organic hallucinosis. Affective disorders led the patient to attempt suicide. The aim of the study was to highlight the importance of perceiving subtle findings which can lead to a diagnose of a genetic disease in a patient with mental health issues. We also discuss the predisposition to psychiatric disorders in DiGeorge syndrome, Turner syndrome and Fahr syndrome.
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Enfermedades de los Ganglios Basales , Calcinosis , Síndrome de DiGeorge , Trastornos Mentales , Síndrome de Turner , Enfermedades de los Ganglios Basales/complicaciones , Enfermedades de los Ganglios Basales/genética , Síndrome de DiGeorge/complicaciones , Humanos , Persona de Mediana Edad , Síndrome de Turner/complicaciones , Síndrome de Turner/genéticaRESUMEN
This paper attempts to explain some methodological issues regarding EEG signal analysis which might lead to misinterpretation and therefore to unsubstantiated conclusions. The so called "split-alpha," a "new phenomenon" in EEG spectral analysis described lately in few papers is such a case. We have shown that spectrum feature presented as a "split alpha" can be the result of applying improper means of analysis of the spectrum of the EEG signal that did not take into account the significant properties of the applied Fast Fourier Transform (FFT) method. Analysis of the shortcomings of the FFT method applied to EEG signal such as limited duration of analyzed signal, dependence of frequency resolution on time window duration, influence of window duration and shape, overlapping and spectral leakage was performed. Our analyses of EEG data as well as simulations indicate that double alpha spectra called as "split alpha" can appear, as spurious peaks, for short signal window when the EEG signal being studied shows multiple frequencies and frequency bands. These peaks have no relation to any frequencies of the signal and are an effect of spectrum leakage. Our paper is intended to explain the reasons underlying a spectrum pattern called as a "split alpha" and give some practical indications for using spectral analysis of EEG signal that might be useful for readers and allow to avoid EEG spectrum misinterpretation in further studies and publications as well as in clinical practice.
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Not required for Clinical Vignette.
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Técnicas de Ablación/métodos , Etanol/administración & dosificación , Insulinoma/cirugía , Neoplasias Pancreáticas/cirugía , Anciano , Endosonografía/métodos , Humanos , Insulinoma/diagnóstico por imagen , Masculino , Neoplasias Pancreáticas/diagnóstico por imagen , Ultrasonografía IntervencionalRESUMEN
OBJECTIVES: The aim of our study was to verify the effectiveness of single fiber potential (SFP) criteria in cases when the potential recorded using single fiber electrode (SFE) or concentric needle electrode (CNE) is contaminated by distant fibers. METHODS: Morphological counterparts of SFP were studied using computer simulations. In this study, we examined triphasic potentials using a model of a linear source of SFP. The criteria defining SFP in the case of SFP contaminated by distant fibers were analyzed, and the effect of second fiber contamination on jitter and fiber diameter determination evaluated. RESULTS: We found that SFP criteria prevent detection of SFP from fibers smaller than about 30µm in diameter, but do not prevent classification of a potential as an SFP even though it is formed by two or more fibers. This suggests that the presently used criteria may lead to incorrect interpretation of SFP potentials. SFPs contaminated by fibers of diameters differing by a few percent fulfill the criteria but a negative peak may be shifted in time and therefore impact jitter and diameter measurements. This contamination generally tends to decrease both the jitter and the determined diameter. A new approach to the identification of SFP is presented, determining fiber diameter and distance from the electrode to enable maximum sensitivity to potential contamination by the effect of a second fiber. CONCLUSION: A new parameter characterizing SFP shape changes is introduced. This parameter is used in the method by which additional fibers affecting the SFP may be detected.
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Electromiografía , Endopeptidasas/fisiología , Contracción Muscular/fisiología , Fibras Musculares Esqueléticas/fisiología , Potenciales de Acción/fisiología , Simulación por Computador , Electrodos , Electromiografía/métodos , HumanosRESUMEN
MUNIX method (Motor Unit Number Index) had been not used to assess number of motor neurons in post-polio syndrome in contrary to needle electromyography. OBJECTIVES: To confirm if MUNIX reflects motor unit loss and clinical stage and to assess difference in MUNIX and EMG results between muscles in different stage. METHODS: 132 Muscles (MUNIX) and 96 (EMG) in 12 patients were studied and divided into groups: with normal strength(N), stable weakness and atrophy(S), new weakness and atrophy(W). RESULTS: In PPS group MUNIX global was 561.36⯱â¯282.6 (right 6 muscles) and 561.27⯱â¯281.1 (left) significantly lower than in control group (six muscles 1139.6⯱â¯164.5) (pâ¯<â¯0.05). MUNIX global correlated with MRC global. MUNIX was greater in muscles with normal strength (95-100% of normal values) than in those with stable weakness (48%-0% of normal values) and new weakness (65%-0% of normal values). Respectively to clinical stage of muscle MUP (motor unit potential) amplitude increased to 350% of normal value, from 250% to 110%, and from 300% to 700%. No correlation was found between MUP parameters and MRC values. CONCLUSIONS: MUNIX reflects motor dysfunction and could be a good biomarker for loss of motor neurons in PPS.