979 research outputs found
Diagnostic Value of Choline PET in the Preoperative Localization of Hyperfunctioning Parathyroid Gland(s): A Comprehensive Overview
Hyperparathyroidism is a metabolic disorder characterized by the excessive production of the parathyroid hormone. The diagnosis is based on clinical and laboratory data. In most cases the only treatment is surgery and a correct preoperatory localization of the hyperfunctioning parathyroid gland(s) is essential. Currently, ultrasonography combined with [Tc-99m]Tc-MIBI parathyroid scintigraphy, optionally associated with single photon emission computed tomography/computed tomography (SPECT/CT), represent the standard preoperative imaging. In recent years, a number of studies have evaluated the potential role of choline positron emission tomography (PET) in hyperparathyroidism with promising results. Most of the recent evidence underlined its higher sensitivity and diagnostic accuracy in the localization of hyperfunctioning parathyroid glands. Choline PET has a higher spatial resolution that is useful for the detection of smaller parathyroid glands and it also has shorter examination times and favorable radiation exposure. These are just a few of the aspects that support it to overcome traditional imaging. Moreover, from the preliminary data, the choline uptake mechanism seems to also have an impact on its better performance. For these reasons, if first used as second level imaging in patients with negative or inconclusive traditional imaging results, several authors have supported its use as a first line investigation. This comprehensive overview aims to provide an accurate description of the preliminary results available in the literature about the use of choline PET/CT in hyperparathyroidism and to compare these results with the performance of traditional imaging methods
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
Background: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation
of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction.
The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening
initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan.
Case presentation: We describe the case of a 40-year-old female patient who presented with transient ischemic attack (TIA), discomfort in her hands, intolerance to cold and heat, severe angina and palpitations, chronic kidney disease. Clinical, biochemical and molecular studies were performed.
Conclusions: Reported symptoms, peculiar findings in a renal biopsy â the evidence of occasional lamellar
inclusions in podocytes and mesangial cells â and left ventricular (LV) hypertrophy, which are considered to be specific features of FD, as well as molecular evaluations, suggested the diagnosis of a classical form of FD. We detected four mutations in the GLA gene of the patient: -10C>T (g.1170C>T), c.370-77_-81del
(g.7188-7192del5), c.640-16A>G (g.10115A>G), c.1000-22C>T (g.10956C>T). These mutations, located in promoter and intronic regulatory regions, have been observed in several patients with manifestations of FD. In our patient clinical picture showed a multisystemic involvement with early onset of symptoms, thus suggesting that these intronic mutations can be found even in patients with classical form of FD
Three-dimensional geophysical modelling of Kiejo-Mbaka geothermal field, Tanzania
The Kiejo-Mbaka geothermal field is located close to the eastern margin of the Karonga Rift Basin and is part of the Rungwe volcanic province where the EARS splits up into its Western and Eastern branches in southern Tanzania. The area is characterised by a Precambrian gneiss metamorphic basement complex, outcropping along the NW-trending, SW-dipping Mbaka fault. Geothermal manifestations mainly consist of hot springs, flowing close to the Mbaka fault. An integrated geophysical survey was carried out over the Kiejo-Mbaka geothermal field by TGDC (Tanzania Geothermal Development Company), under the supervision of ELC-Electroconsult (Italy). The campaign included 76 Magnetotelluric (MT) and Transient Electromagnetic (TEM) soundings and 133 gravity measurements; a dense station grid allowed for a detailed geophysical 2D and 3D modelling. Two and 3D gravity modelling indicate that the positive residual Bouguer anomaly can be explained by a high density (3 g/cm3) body, constituting the gneiss basement, elongating NW-SE. NE and SW of it, lower density layers (2.5 g/cm3) are observable; the attitude of their bottoms is compatible with the Mbaka fault direction and the Livingstone fault trend (NNW). We found that 3D MT inversion was the only tool giving a reliable resistivity imaging in the Mbaka prospect. From the final 3D MT model, a very resistive body (>2000 Ohm m) deepening toward SE is visible; this body represent the gneiss basement, and the surfaces delimiting it are associated with the Mbaka fault and the Livingstone fault trend. Three conductive zones (less than 10 Ohm m) have been identified: two of them affect the Mbaka fault footwall, NE of the resistive basement, while another one is located beneath the plain, SE of it. This latter zone shows a thickness of about 1 km. It is apparent that the low-density regions well correspond with the high-conductivity zones imaged by the MT 3D inversion. The integrated geophysical interpretation then leads to two possible geological scenarios: these regions can be constituted by (post-rift) sediments (possibly affected by low-T geothermal alteration) or by intensively fractured and low-T altered basement; however, we stress that the possible geothermal alteration is not necessarily related to the present-day geothermal activity, and caution should be taken in result interpretation
A critical role of NO/cGMP/PKG dependent pathway in hippocampal post-ischemic LTP:Modulation by zonisamide
n/
Focused Inversion of Gravimetric and Magnetotelluric Data for Geothermal Investigations
Focused inversion techniques may be applied to geophysical data inversion in order to image complex structures in the subsoil. These algorithms may image complex \u201cblocky\u201d structures giving useful information in geothermal exploration that may be smoothed out by standard inversion algorithms that use stabilizer that penalize sharp transitions. We have tested the modified total variation and the maximum gradient support stabilizers in the inversion of synthetic and field magnetotelluric and gravimetric data. The gravimetric data from the Luhoi geothermal prospect have been used to map the sharp density transition between the sandstone and the overlying claystone layers. The resulting horst structure imaged in 2D and 3D models by the maximum gradient support stabilizer solution allow to trace the main fault system that drives the up-flow of hydrothermal waters. The 1D magnetotelluric \u201cblocky\u201d models with lateral constrain (pseudo-3D) image the lithological contact between the claystone and sandstone far from the horst area and reveal resistivity variations in the claystone layer associated with sand lenses. In the horst area, resistivity models image hydrothermal alteration affecting the sandstone layer
AQP5 is expressed in type-B intercalated cells in the collecting duct system of the rat, mouse and human kidney.
We screened human kidney-derived multipotent CD133+/CD24+ ARPCs for the possible expression of all 13 aquaporin isoforms cloned in humans. Interestingly, we found that ARPCs expressed both AQP5 mRNA and mature protein. This novel finding prompted us to investigate the presence of AQP5 in situ in kidney. We report here the novel finding that AQP5 is expressed in human, rat and mouse kidney at the apical membrane of type-B intercalated cells. AQP5 is expressed in the renal cortex and completely absent from the medulla. Immunocytochemical analysis using segment- and cell type-specific markers unambiguously indicated that AQP5 is expressed throughout the collecting system at the apical membrane of type-B intercalated cells, where it co-localizes with pendrin. No basolateral AQPs were detected in type-B intercalated cells, suggesting that AQP5 is unlikely to be involved in the net trans-epithelial water reabsorption occurring in the distal tubule. An intriguing hypothesis is that AQP5 may serve an osmosensor for the composition of the fluid coming from the thick ascending limb. Future studies will unravel the physiological role of AQP5 in the kidney
Electrophysiological actions of zonisamide on striatal neurons: Selective neuroprotection against complex I mitochondrial dysfunction
n/
Centrotemporal spikes during NREM sleep: The promoting action of thalamus revealed by simultaneous EEG and fMRI coregistration
Benign childhood epilepsy with centrotemporal spikes (BECTS) has been investigated through EEG\u2013fMRI
with the aim of localizing the generators of the epileptic activity, revealing, in most cases, the activation of
the sensory\u2013motor cortex ipsilateral to the centrotemporal spikes (CTS). In this case report, we investigated
the brain circuits hemodynamically involved by CTS recorded during wakefulness and sleep in one boy with
CTS and a language disorder but without epilepsy. For this purpose, the patient underwent EEG\u2013fMRI
coregistration. During the \u201cawake session\u201d, fMRI analysis of right-sided CTS showed increments of BOLD signal
in the bilateral sensory\u2013motor cortex. During the \u201csleep session\u201d, BOLD increments related to right-sided
CTS were observed in a widespread bilateral cortical\u2013subcortical network involving the thalamus, basal
ganglia, sensory\u2013motor cortex, perisylvian cortex, and cerebellum.
In this patient, who fulfilled neither the diagnostic criteria for BECTS nor that for electrical status epilepticus
in sleep (ESES), the transition from wakefulness to sleep was related to the involvement of a widespread
cortical\u2013subcortical network related to CTS. In particular, the involvement of a thalamic\u2013perisylvian neural
network similar to the one previously observed in patients with ESES suggests a common sleep-related
network dysfunction even in cases with milder phenotypes without seizures. This finding, if confirmed in a
larger cohort of patients, could have relevant therapeutic implication
Clinical usefulness of scoring systems to predict severe acute pancreatitis : A systematic review and meta-analysis with pre and post-test probability assessment
Scoring systems for severe acute pancreatitis (SAP) prediction should be used in conjunction with pre-test probability to establish post-test probability of SAP, but data of this kind are lacking.To investigate the predictive value of commonly employed scoring systems and their usefulness in modifying the pre-test probability of SAP.Following PRISMA statement and MOOSE checklists after PROSPERO registration, PubMed was searched from inception until September 2022. Retrospective, prospective, cross-sectional studies or clinical trials on patients with acute pancreatitis defined as Revised Atlanta Criteria, reporting rate of SAP and using at least one score among Bedside Index for Severity in Acute Pancreatitis (BISAP), Acute Physiology and Chronic Health Examination (APACHE)-II, RANSON, and Systemic Inflammatory Response Syndrome (SIRS) with their sensitivity and specificity were included. Random effects model meta-analyses were performed. Pre-test probability and likelihood ratio (LR) were combined to estimate post-test probability on Fagan nomograms. Pooled severity rate was used as pre-test probability of SAP and pooled sensitivity and specificity to calculate LR and generate post-test probability. A priori hypotheses for heterogeneity were developed and sensitivity analyses planned.43 studies yielding 14,116 acute pancreatitis patients were included: 42 with BISAP, 30 with APACHE-II, 27 with Ranson, 8 with SIRS. Pooled pre-test probability of SAP ranged 16.6%-25.3%. The post-test probability of SAP with positive/negative score was 47%/6% for BISAP, 43%/5% for APACHE-II, 48%/5% for Ranson, 40%/12% for SIRS. In 18 studies comparing BISAP, APACHE-II, and Ranson in 6740 patients with pooled pre-test probability of SAP of 18.7%, post-test probability when scores were positive was 48% for BISAP, 46% for APACHE-II, 50% for Ranson. When scores were negative, post-test probability dropped to 7% for BISAP, 6% for Ranson, 5% for APACHE-II. Quality, design, and country of origin of the studies did not explain the observed high heterogeneity.The most commonly used scoring systems to predict SAP perform poorly and do not aid in decision-making
- âŠ