Can we rely on magnetic resonance imaging for prostate cancer detection and surgical planning? Comprehensive analysis of a large cohort of patients undergoing transperineal mapped biopsies.

PURPOSE: To evaluate MRI and histological concordance in prostate cancer (PCa) identification via mapped transperineal biopsies. METHODOLOGY: Retrospective per-lesion analysis of patients undergoing MRI and transperineal biopsy at the Valencian Institute of Oncology (2016-2024) using CAPROSIVO PCa data. Patients underwent MRI, with or without regions of interest (ROI), followed by transperineal biopsies (3-5 cores/ROI, 20-30 systematic). Sensitivity (Se), specificity (Sp), negative predictive value (NPV), positive predictive value (PPV), and area under the curve (AUC) were calculated, considering PI-RADS 3 lesions as positive or negative. Gleason Grade Group (GG) > 1 defined clinically significant PCa (csPCa). RESULTS: 1817 lesions were analyzed from 1325 patients (median age 67, median PSA 6.3 ng/ml). 53% MRI were negative, GG > 1 prevalence was 38.4%. MRI-negative cases showed varying PCa rates: 57.4% negative, 30.2% GG 1, and 12.4% GG > 1. PI-RADS 3 lesions had mixed outcomes: 45.6% benign, 13.1% GG 1, and 41.3% GG > 1. 9.2% PI-RADS 4-5 lesions were negative, 9% GG 1, and 81.7% GG > 1. For PI-RADS 3 lesions considered positive, Se, Sp, NPV, PPV, and AUC were 82.9%, 75%, 87.6%, 67.4%, and 0.79 respectively. Considering PI-RADS 3 as negative yielded 64.8% Se, 91% Sp, 80.6% NPV, 81.7% PPV, and 0.78 AUC. CONCLUSION: MRI and mapped prostate biopsies exhibited moderate concordance. MRI could miss up to one in five csPCa foci and misinterpret one in three ROIs. Careful MRI interpretation is crucial for optimizing patient care.

Bictegravir/Emtricitabine/Tenofovir Alafenamide in a Multicentre Cohort: Real-Life Experience From Spain.

BACKGROUND: The evaluation of bictegravir, emtricitabine, and tenofovir alafenamide (BIC/FTC/TAF) in clinical trials has shown high rates of virological suppression but information about its use in real-life settings is scarce. OBJECTIVE: To evaluate the effectiveness, safety, durability, and predictive variables of therapeutic failure of BIC/FTC/TAF in a real-life cohort. METHODS: This observational, retrospective, multicentered cohort study included treatment-naive (TN) and treatment-experienced (TE) adult patients living with HIV (PLWH) who started treatment with BIC/FTC/TAF from January 1, 2019, to January 31, 2022. Treatment effectiveness (based on intention-to-treat [ITT], modified ITT [mITT], and on-treatment [OT]), tolerability, and safety were evaluated in all patients who started BIC/FTC/TAF antiretroviral therapy. RESULTS: We included a total of 505 PLWH of whom 79 (16.6%) were TN and 426 (83.4%) were TE. Patients were followed up for a median (interquartile range [IQR]) of 19.6 (9.6-27.3) months, and 76% and 56% of PLWH reached month 6 and month 12 of treatment, respectively. Rates of TN PLWH with HIV-RNA <50 copies/mL in the OT, mITT, and ITT groups were 94%, 80%, and 62%, respectively, after 12 months of BIC/FTC/TAF treatment. Rates of TE PLWH with HIV-RNA <50 copies/mL were 91%, 88%, and 75% at month 12. The multivariate analysis revealed that neither age, sex, CD4 cell count <200 cells/µL, or viral load >100 000 copies/mL were associated with therapeutic failure. CONCLUSION AND RELEVANCE: Our real-life data showed that BIC/FTC/TAF is effective and safe for use in the treatment of both TN and TE patients in clinical practice.

What Faces Reveal: A Novel Method to Identify Patients at Risk of Deterioration Using Facial Expressions.

OBJECTIVES: To identify facial expressions occurring in patients at risk of deterioration in hospital wards. DESIGN: Prospective observational feasibility study. SETTING: General ward patients in a London Community Hospital, United Kingdom. PATIENTS: Thirty-four patients at risk of clinical deterioration. INTERVENTIONS: A 5-minute video (25 frames/s; 7,500 images) was recorded, encrypted, and subsequently analyzed for action units by a trained facial action coding system psychologist blinded to outcome. MEASUREMENTS AND MAIN RESULTS: Action units of the upper face, head position, eyes position, lips and jaw position, and lower face were analyzed in conjunction with clinical measures collected within the National Early Warning Score. The most frequently detected action units were action unit 43 (73%) for upper face, action unit 51 (11.7%) for head position, action unit 62 (5.8%) for eyes position, action unit 25 (44.1%) for lips and jaw, and action unit 15 (67.6%) for lower face. The presence of certain combined face displays was increased in patients requiring admission to intensive care, namely, action units 43 + 15 + 25 (face display 1, p < 0.013), action units 43 + 15 + 51/52 (face display 2, p < 0.003), and action units 43 + 15 + 51 + 25 (face display 3, p < 0.002). Having face display 1, face display 2, and face display 3 increased the risk of being admitted to intensive care eight-fold, 18-fold, and as a sure event, respectively. A logistic regression model with face display 1, face display 2, face display 3, and National Early Warning Score as independent covariates described admission to intensive care with an average concordance statistic (C-index) of 0.71 (p = 0.009). CONCLUSIONS: Patterned facial expressions can be identified in deteriorating general ward patients. This tool may potentially augment risk prediction of current scoring systems.

Eradication of Helicobacter pylori infection with a new bismuth-based quadruple therapy in clinical practice. / Erradicación de la infección por Helicobacter pylori con una nueva terapia cuádruple basada en bismuto en la práctica clínica.

INTRODUCTION: The eradication of Helicobacter pylori infection represents a clinical challenge. OBJECTIVE: To evaluate the efficacy and safety of quadruple therapy with esomeprazole plus a 3-in-1 capsule containing bismuth subcitrate, metronidazole and tetracycline, plus probiotics in patients diagnosed with H. pylori infection in routine clinical practice. METHODS: A prospective, interventional, single-centre and open-label study in consecutive patients with a confirmed indication for eradication of H. pylori infection. Patients were treated with three capsules of Pylera® four times a day (breakfast, lunch, afternoon snack and dinner), plus 40mg of esomeprazole twice daily for 10 days (30min before breakfast and dinner) and probiotics for 30 days. Eradication of H. pylori infection was confirmed by labelled urea breath test performed at least 28 days after the end of treatment. RESULTS: A total of 100 patients were consecutively enrolled. Twenty-five patients (25.0%) had a prior history of treatment for their H. pylori infection. In the intention-to-treat population, eradication rates were 90.7% (68/75) and 80.0% (20/25) in patients treated with Pylera® as the first line or as rescue therapy, respectively. Eighteen patients (18%) had at least one adverse event, most of which (89%) were mild. CONCLUSION: Ten days of treatment with a quadruple regimen of bismuth, metronidazole and tetracycline plus esomeprazole and probiotics is an effective and safe strategy in patients with H. pylori infection.

Complementary description of Ergasilus arthrosis Roberts, 1969 (Copepoda: Poecilostomatoida: Ergasilidae), a new parasite of cichlid teleosts in southeast Mexico.

During a parasitological survey of the ichthyofauna of Lake Catemaco, a freshwater system in the Mexican State of Veracruz, the widespread copepod Ergasilus arthrosis Roberts, 1969 was recovered from two cichlid teleosts, Mayaheros urophthalmus (Günther) and Oreochromis sp. This is the first confirmed record of this copepod species outside of the United States and from Mexico; its finding as a parasite of cichlids represents an expansion of the known host range for this copepod. The local prevalence and intensity of infection of E. arthrosis was highest in M. urophthalmus. The infection prevalence of E. arthrosis on M. urophthalmus (60%) was higher than that known for other ergasilids on cichlids. Ergasilus arthrosis can be distinguished from its closest congener E. lizae Krøyer, 1863 by the morphometry of the antennary segments, the ventral ornamentation of the thoracic sclerites and by details of the antennulary setation, but also by its habitat and host preferences. Taxonomic illustrations and morphological details of the specimens examined are also provided together with comments on the variability of this species.

[Quality in diabetes mellitus control in Primary Care Units in Mexico. A study of the perspectives of the patient's family]. / Calidad en el control de la diabetes mellitus en unidades de atención primaria de México. Un estudio desde la perspectiva de la familia de los pacientes.

OBJECTIVE: To identify the perspectives of the patient's family in the quality of diabetes mellitus control. DESIGN: Qualitative methodology of exploratory design, oriented towards health services research, conducted in 2014 using non-probability sampling. LOCATION: Primary Care Units mainly situated in the state of Tabasco, Mexico. PARTICIPANTS AND/OR CONTEXTS: 42 family members were selected, who agreed to participate voluntarily in the study. METHOD: Six focus groups were set up; interview guides and group dynamics were employed. The information was documented, saturated and categorised; the most representative discourses were used, and conclusions reached. RESULTS: The results show a highly critical position of the families as regards the patient, some of which appear justified, and others have a cultural, historical, and to some extent, an ignorance connotation. They have also commented on the health care and the role that patients and families can play, in both cases, also expressed critically. CONCLUSIONS: The family perspectives reveal what they think and feel about diabetes mellitus. It is important to note their lack of support and the content of their expressions due to lack of knowledge of the disease. Their discourses are critical, mythical, and with false beliefs of the fear of being future carriers of the disease. They feel sorry for the patient but they resist taking care of them, and do not want a life with diabetes. The family is the closest support for patients and an invaluable human resource for health services.

'Management multiple myeloma during pregnancy: a case report and review'.

Multiple myeloma (MM) is a hematologic neoplasm characterized by plasma tumor cell proliferation in the bone marrow. It's a rare malignancy before a 40-year-old and it is extremely uncommon during pregnancy. We report the case of a 37-year-old woman with a newly diagnosed IgG λ MM (Durie-Salmon stage IIIA, International Staging System II and good prognosis cytogenetic) at the 27th week of her pregnancy. Our management during pregnancy, the delivery, and initiation of anti-myeloma treatment with bortezomib, lenalidomide, and dexamethasone are published. There are a few reviews reporting the most common features and management of MM during pregnancy. We perform a comprehensive review of all 32 cases reported between 1965 and 2014 in which a MM was diagnosed during pregnancy including score, cytogenetic results, labor characteristics, and response to therapy. About 53% of pregnant women did not start treatment before partum. Cesarean section was the most common form of delivery (82%). About 88% of newborns were healthy, although most of them were premature (73%). Management of a MM diagnosed during pregnancy should be based on the presence of myeloma-related organ damage to secure survival of the mother without fetal adverse effects related to treatment. Serial fetal ultrasound may be helpful in order to avoid complications. The cesarean section may be preferred depending on maternal and fetus prognosis. Whole-body diffusion-weighted imaging minimal response could be an appropriate technique to discard plasmacytomas during pregnancy in critical situations such as the appearance of symptoms of spinal cord compression. Therapeutic choices should be agreed with the pregnant after a thorough discussion of the prognostic factors of the disease and the potential risk for the fetus and the patient. While awaiting partum, dexamethasone is a non-toxic treatment. Triple therapy including a proteasome inhibitor should be started quickly after delivery. Copyright © 2014 John Wiley & Sons, Ltd.

Suppression of Hydrophobic Recovery by Plasma Polymer Films with Vertical Chemical Gradients.

Vertical chemical gradients extending over a few nanometers were explored. The gradients are based on plasma-polymerized oxygen-containing ethylene (ppOEt) films. Using plasma conditions with low CO2/C2H4 ratio and high energy input, cross-linked films were deposited as base layer, while increasing CO2 and lowering energy input resulted in less cross-linked yet highly functional films as applied as top layer. Aging studies indicate that, in particular, for very thin gradient structures, the cross-linked subsurface zone effectively hinders reorientation of the surface functional groups, thus restricting hydrophobic recovery and oxidation effects.

Pseudomonas pseudoalcaligenes CECT5344, a cyanide-degrading bacterium with by-product (polyhydroxyalkanoates) formation capacity.

BACKGROUND: Cyanide is one of the most toxic chemicals produced by anthropogenic activities like mining and jewelry industries, which generate wastewater residues with high concentrations of this compound. Pseudomonas pseudoalcaligenes CECT5344 is a model microorganism to be used in detoxification of industrial wastewaters containing not only free cyanide (CN(-)) but also cyano-derivatives, such as cyanate, nitriles and metal-cyanide complexes. Previous in silico analyses suggested the existence of genes putatively involved in metabolism of short chain length (scl-) and medium chain length (mcl-) polyhydroxyalkanoates (PHAs) located in three different clusters in the genome of this bacterium. PHAs are polyesters considered as an alternative of petroleum-based plastics. Strategies to optimize the bioremediation process in terms of reducing the cost of the production medium are required. RESULTS: In this work, a biological treatment of the jewelry industry cyanide-rich wastewater coupled to PHAs production as by-product has been considered. The functionality of the pha genes from P. pseudoalcaligenes CECT5344 has been demonstrated. Mutant strains defective in each proposed PHA synthases coding genes (Mpha(-), deleted in putative mcl-PHA synthases; Spha(-), deleted in the putative scl-PHA synthase) were generated. The accumulation and monomer composition of scl- or mcl-PHAs in wild type and mutant strains were confirmed by gas chromatography-mass spectrometry (GC-MS). The production of PHAs as by-product while degrading cyanide from the jewelry industry wastewater was analyzed in batch reactor in each strain. The wild type and the mutant strains grew at similar rates when using octanoate as the carbon source and cyanide as the sole nitrogen source. When cyanide was depleted from the medium, both scl-PHAs and mcl-PHAs were detected in the wild-type strain, whereas scl-PHAs or mcl-PHAs were accumulated in Mpha(-) and Spha(-), respectively. The scl-PHAs were identified as homopolymers of 3-hydroxybutyrate and the mcl-PHAs were composed of 3-hydroxyoctanoate and 3-hydroxyhexanoate monomers. CONCLUSIONS: These results demonstrated, as proof of concept, that talented strains such as P. pseudoalcaligenes might be applied in bioremediation of industrial residues containing cyanide, while concomitantly generate by-products like polyhydroxyalkanoates. A customized optimization of the target bioremediation process is required to gain benefits of this type of approaches.

Olive seed protein bodies store degrading enzymes involved in mobilization of oil bodies.

The major seed storage reserves in oilseeds are accumulated in protein bodies and oil bodies, and serve as an energy, carbon, and nitrogen source during germination. Here, the spatio-temporal relationships between protein bodies and several key enzymes (phospholipase A, lipase, and lipoxygenase) involved in storage lipid mobilization in cotyledon cells was analysed during in vitro seed germination. Enzyme activities were assayed in-gel and their cellular localization were determined using microscopy techniques. At seed maturity, phospholipase A and triacylglycerol lipase activities were found exclusively in protein bodies. However, after seed imbibition, these activities were shifted to the cytoplasm and the surface of the oil bodies. The activity of neutral lipases was detected by using α-naphthyl palmitate and it was associated mainly with protein bodies during the whole course of germination. This pattern of distribution was highly similar to the localization of neutral lipids, which progressively appeared in protein bodies. Lipoxygenase activity was found in both the protein bodies and on the surface of the oil bodies during the initial phase of seed germination. The association of lipoxygenase with oil bodies was temporally correlated with the appearance of phospholipase A and lipase activities on the surface of oil bodies. It is concluded that protein bodies not only serve as simple storage structures, but are also dynamic and multifunctional organelles directly involved in storage lipid mobilization during olive seed germination.

Sparkling Synergy: Enhancing Hydrogen Evolution with a Mesoporous CoP/FeP Interface.

The reaction kinetics is predominantly determined by the surface and interface engineering of electrocatalysts. Herein, we demonstrate the growth of cobalt monophosphide and iron monophosphide (CoP/FeP) with an effective solid interface. The surface of CoP/FeP is mesoporous, which is obtained by phosphidizing mesoporous CoFe2O4. The CoP/FeP electrode exhibits substantially superior hydrogen evolution reaction (HER) performance compared to CoP and FeP. The overpotentials (η) required to generate 10 mA cm-2 are determined to be around 98 mVRHE (CoP/FeP), 220 mVRHE (FeP), and 265 mVRHE (CoP) in an acidic electrolyte. The exchange current density and Tafel slopes suggest that CoP/FeP has better redox properties and kinetic abilities compared to FeP and CoP. Furthermore, the CoP/FeP electrode exhibits reduced electrochemical impedance and superior surface charge transport characteristics in comparison to both the CoP and FeP electrodes. In addition to having a greater number of catalytically active sites, the turnover frequency of CoP/FeP is approximately 2 and 5 times higher than that of FeP and CoP, respectively. The CoP/FeP electrode maintains a consistent current density of around 25 mA cm-2 for a continuous period of 24 h during the HER, attesting to the excellent durability of the CoP/FeP electrode. In addition, a relationship between differential hydrogen adsorption energy (ΔEH), the corresponding Gibbs free energy change (ΔGH), and the hydrogen coverage on distinct surfaces, namely, CoP, FeP, and CoP/FeP, is established. The calculation findings show that the CoP/FeP surface, which is predominantly exposed with CoP, exhibits the highest catalytic potential for the HER. The estimation of the specific HER activity of the electrodes, normalized to the electrochemically active surface area, corroborates the calculation findings.

CXCR4: From Signaling to Clinical Applications in Neuroendocrine Neoplasms.

There are several well-described molecular mechanisms that influence cell growth and are related to the development of cancer. Chemokines constitute a fundamental element that is not only involved in local growth but also affects angiogenesis, tumor spread, and metastatic disease. Among them, the C-X-C motif chemokine ligand 12 (CXCL12) and its specific receptor the chemokine C-X-C motif receptor 4 (CXCR4) have been widely studied. The overexpression in cell membranes of CXCR4 has been shown to be associated with the development of different kinds of histological malignancies, such as adenocarcinomas, epidermoid carcinomas, mesenchymal tumors, or neuroendocrine neoplasms (NENs). The molecular synapsis between CXCL12 and CXCR4 leads to the interaction of G proteins and the activation of different intracellular signaling pathways in both gastroenteropancreatic (GEP) and bronchopulmonary (BP) NENs, conferring greater capacity for locoregional aggressiveness, the epithelial-mesenchymal transition (EMT), and the appearance of metastases. Therefore, it has been hypothesized as to how to design tools that target this receptor. The aim of this review is to focus on current knowledge of the relationship between CXCR4 and NENs, with a special emphasis on diagnostic and therapeutic molecular targets.

Cellular localization and levels of pectins and arabinogalactan proteins in olive (Olea europaea L.) pistil tissues during development: implications for pollen-pistil interaction.

Cell wall components in the pistil are involved in cell-cell recognition, nutrition and regulation of pollen tube growth. The aim of this work was to study the level, whole-organ distribution, and subcellular localization of pectins and arabinogalactan proteins (AGPs) in the olive developing pistil. Western blot analyses and immunolocalization with fluorescence and electron microscopy were carried out using a battery of antibodies recognizing different types of pectin epitopes (JIM7, JIM5, LM5, and LM6) and one anti-AGPs antibody (JIM13). In the olive pistil, highest levels of acid esterified and de-esterified pectins were observed at pollination. Moreover, pollination was accompanied by a slight decrease of the galactose-rich pectins pool, whereas arabinose-rich pectins were more abundant at that time. An increased expression of AGPs was also observed during pollination, in comparison to the pistil at the pre-anthesis stage. After pollination, the levels of pectins and AGPs declined significantly. Inmunofluorescence localization of pectins showed their different localization in the olive pistil. Pectins with galactose residues were located mainly in the cortical zones of the pistil, similar to the neutral pectins, which were found in the parenchyma and epidermis. In turn, the neutral pectins, which contain arabinose residues and AGPs, were localized predominantly in the stigmatic exudate, in the cell wall of secretory cells of the stigma, as well as in the transmitting tissue of the pistil during the pollination period. The differences in localization of pectins and AGPs are discussed in relation to their roles during olive pistil developmental course.

New insights into the early steps of oil body mobilization during pollen germination.

In some plants, pollen grains accumulate storage lipids that serve as energy supply during germination. Here, three enzymes involved in early steps of oil body mobilization in the male gametophyte were functionally characterized for the first time. The effect of extracellular sugars on pollen performance and oil body dynamics was also analysed. Olive pollen oil bodies showed phospholipase A, lipase, and lipoxygenase activities on their surface. Enzyme activity levels increased during germination with a maximum after 3h. Removal of extracellular sugars from the germination medium did not affect pollen performance but increased enzyme activity rates and sped up oil body mobilization. Inhibitors seriously hampered pollen germination and pollen tube growth, leading to a characteristic accumulation of oil bodies in the germinative aperture. It can be concluded that storage lipids are sufficient for proper olive pollen germination. A lipase and a lipoxygenase are likely involved in oil body mobilization. Extracellular sugars may modulate their function, while a phospholipase A may promote their access to the storage lipids.

Proteomics profiling reveals novel proteins and functions of the plant stigma exudate.

Proteomic analysis of the stigmatic exudate of Lilium longiflorum and Olea europaea led to the identification of 51 and 57 proteins, respectively, most of which are described for the first time in this secreted fluid. These results indicate that the stigmatic exudate is an extracellular environment metabolically active, participating in at least 80 different biological processes and 97 molecular functions. The stigma exudate showed a markedly catabolic profile and appeared to possess the enzyme machinery necessary to degrade large polysaccharides and lipids secreted by papillae to smaller units, allowing their incorporation into the pollen tube during pollination. It may also regulate pollen-tube growth in the pistil through the selective degradation of tube-wall components. Furthermore, some secreted proteins were involved in pollen-tube adhesion and orientation, as well as in programmed cell death of the papillae cells in response to either compatible pollination or incompatible pollen rejection. Finally, the results also revealed a putative cross-talk between genetic programmes regulating stress/defence and pollination responses in the stigma.

Electrophoretic profiling and immunocytochemical detection of pectins and arabinogalactan proteins in olive pollen during germination and pollen tube growth.

BACKGROUND AND AIMS: Cell wall pectins and arabinogalactan proteins (AGPs) are important for pollen tube growth. The aim of this work was to study the temporal and spatial dynamics of these compounds in olive pollen during germination. METHODS: Immunoblot profiling analyses combined with confocal and transmission electron microscopy immunocytochemical detection techniques were carried out using four anti-pectin (JIM7, JIM5, LM5 and LM6) and two anti-AGP (JIM13 and JIM14) monoclonal antibodies. KEY RESULTS: Pectin and AGP levels increased during olive pollen in vitro germination. (1 → 4)-ß-d-Galactans localized in the cytoplasm of the vegetative cell, the pollen wall and the apertural intine. After the pollen tube emerged, galactans localized in the pollen tube wall, particularly at the tip, and formed a collar-like structure around the germinative aperture. (1 → 5)-α-l-Arabinans were mainly present in the pollen tube cell wall, forming characteristic ring-shaped deposits at regular intervals in the sub-apical zone. As expected, the pollen tube wall was rich in highly esterified pectic compounds at the apex, while the cell wall mainly contained de-esterified pectins in the shank. The wall of the generative cell was specifically labelled with arabinans, highly methyl-esterified homogalacturonans and JIM13 epitopes. In addition, the extracellular material that coated the outer exine layer was rich in arabinans, de-esterified pectins and JIM13 epitopes. CONCLUSIONS: Pectins and AGPs are newly synthesized in the pollen tube during pollen germination. The synthesis and secretion of these compounds are temporally and spatially regulated. Galactans might provide mechanical stability to the pollen tube, reinforcing those regions that are particularly sensitive to tension stress (the pollen tube-pollen grain joint site) and mechanical damage (the tip). Arabinans and AGPs might be important in recognition and adhesion phenomena of the pollen tube and the stylar transmitting cells, as well as the egg and sperm cells.

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous genetic heart disease characterized by left ventricular hypertrophy in the absence of another disease that could explain the wall thickening. Elucidation of the genetic basis of HCM lead to the identification of several genes encoding sarcomeric proteins, such as MYH7, MYBPC3, TPM1, TNNT2, and TNNI3. Sarcomeric genes are mutated in approximately 40% of HCM patients and a possible explanation for the incomplete yield of mutation-positive HCM may be somatic mutations. METHODS AND RESULTS: We studied 104 unrelated patients with non-familial HCM. Patients underwent clinical evaluation and mutation screening of 5 genes implicated in HCM (MYH7, MYBPC3, TPM1, TNNT2, and TNNI3) in genomic DNA isolated from resected cardiac tissue; 41 of 104 were found to carry a mutation, but as several patients carried the same mutations, the total amount of different mutations was 37; 20 of these mutations have been previously described, and pathogenicity has been assessed. To determine the effect of the 17 new mutations an in silico assay was performed and it predicted that 4 variants were damaging mutations. All identified variants were also seen in the DNA isolated from the corresponding blood, which demonstrated the absence of somatic mutations. CONCLUSIONS: Somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, and TNNI3 do not represent an important etiologic pathway in HCM.

[Frontal-subcortical syndrome: When the network fails, about a case]. / Síndrome fronto-subcortical: cuando la red falla, a propósito de un caso.

Depression and parkinsonism are direct consequences of a lesion, usually vascular, that affects some structure of the frontal-subcortical circuit. Their detection represents a diagnostic challenge and has important repercussions in therapeutic management. The case is presented of a 79-year-old male patient with good overall baseline status, who was admitted to a Psychogeriatric Unit after an autolytic attempt. Initially, a non-psychotic frank depression is observed, and an increase in the base of support for walking and bradykinesia is noted. After adjustment of antidepressant treatment, a notable improvement in affective symptoms is evidenced but not in motor symptoms, so it is decided to request a magnetic resonance imaging that shows ischemic lesions in the basal ganglia. This case provides clear support for the frontal-subcortical circuit model, in which the clinical presentation, neuropsychiatric evaluation, neuroimaging data and therapeutic response contribute to understanding the deficits following these types of lesions. We believe that this article will provide brief and accurate information on the pathophysiological mechanisms, evaluation, diagnostic approach, and treatment of the frontal-subcortical syndrome.

Evaluation of the quality of life in children and adolescents with type 1 diabetes in two health institutions, Bogotá, D. C., Colombia / Evaluación de la calidad de vida en niños y adolescentes con diabetes de tipo 1 en dos instituciones de salud, Bogotá, D. C., Colombia

Introduction: Diabetes mellitus is one of the most prevalent chronic diseases in the pediatric and juvenile population that affects the quality of life of patients. Objective: To evaluate the quality of life of a pediatric population under 18 years of age diagnosed with type 1 diabetes from two pediatric institutions in the city of Bogotá. Material and methods: We collected of sociodemographic data and clinical variables and application of the PedsQL 4.0™ questionnaire, and the diabetes module 3.2 version validated in Spanish. The sociodemographic data, the clinical variables and the PedsQL™ were processed in the statistical software Stata 17™. Results: In the global score of the PedsQL™ 3.2, diabetes version, men presented better quality of life compared to women. The correlation between the hemoglobin A1c (HbA1c) values and the PedsQL scale in the global score was evaluated. Patients with HbA1c values below 9% presented a better health-related quality of life, while in the group with HbA1c greater than 9% a perception of low quality of life was observed (p=0.025). Regarding the type of therapy and the relationship with the domains of the PedsQL 3.2, diabetes version, patients who used insulin pumps had better scores in the domains barriers, adherence, concern, communication and in the global score compared to patients who used multiple daily injections of insulin as treatment (p=0.0363). Conclusions: In our patients, a better metabolic control (measured by the HbA1c value) and the use of an insulin pump contribute to a better perception of quality of life.

Introducción. La diabetes mellitus es una de las enfermedades crónicas con mayor prevalencia en la población pediátrica y juvenil, con efectos en la calidad de vida de los pacientes. Objetivo. Evaluar la calidad de vida de una población pediátrica menor de 18 años con diagnóstico de diabetes de tipo 1, de dos instituciones pediátricas de la ciudad de Bogotá. Materiales y métodos. Se recolectaron los datos sociodemográficos, y se emplearon la versión validada en español del cuestionario PedsQL 4.0™ y el módulo 3.2 sobre diabetes. Los datos se procesaron en el software estadístico STATA 17™. Resultados. Con el puntaje global del módulo 3.2 sobre diabetes, de la versión validada del PedsQL™, se evaluó la correlación entre los valores de la hemoglobina A1c (HbA1c) y los del cuestionario. Los pacientes con valores por debajo del 9 % de HbA1c presentaron una mejor calidad de vida relacionada con la salud, mientras que, en el grupo con HbA1c mayor de 9 %, se observó una baja percepción de calidad de vida (p=0,025). En cuanto el tipo de terapia y la relación con los dominios del PedsQL™ 3.2, versión diabetes, los pacientes que utilizaban la bomba de insulina o microinfusor presentaban mejor puntaje en los dominios barreras, cumplimiento, preocupación y comunicación, y en el puntaje global, respecto a quienes usaban múltiples inyecciones de insulina como tratamiento (p=0,0363). Conclusiones. En nuestros pacientes, un mejor control metabólico (medido por el valor de HbA1c) y el uso de microinfusora contribuyen a una percepción de mejor calidad de vida.

Same-day comparative protocol PET/CT-PET/MRI [68 Ga]Ga-DOTA-TOC in paragangliomas and pheochromocytomas: an approach to personalized medicine.

BACKGROUND: PET/MRI is an emerging imaging modality which enables the evaluation and quantification of biochemical processes in tissues, complemented with accurate anatomical information and low radiation exposure. In the framework of theragnosis, PET/MRI is of special interest due to its ability to delineate small lesions, adequately quantify them, and therefore to plan targeted therapies. The aim of this study was to validate the diagnostic performance of [68 Ga]Ga-DOTA-TOC PET/MRI compared to PET/CT in advanced disease paragangliomas and pheochromocytomas (PGGLs) to assess in which clinical settings, PET/MRI may have a greater diagnostic yield. METHODS: We performed a same-day protocol with consecutive acquisition of a PET/CT and a PET/MRI after a single [68 Ga]Ga-DOTA-TOC injection in 25 patients. Intermodality agreement, Krenning Score (KS), SUVmax (Standard Uptake Value), target-to-liver-ratio (TLR), clinical setting, location, and size were assessed. RESULTS: The diagnostic accuracy with PET/MRI increased by 14.6% compared to PET/CT especially in bone and liver locations (mean size of new lesions was 3.73 mm). PET/MRI revealed a higher overall lesion uptake than PET/CT (TLR 4.12 vs 2.44) and implied an upward elevation of the KS in up to 60% of patients. The KS changed in 30.4% of the evaluated lesions (mean size 11.89 mm), in 18.4% of the lesions it increased from KS 2 on PET/CT to a KS ≥ 3 on PET/MRI and 24.96% of the lesions per patient with multifocal disease displayed a KS ≥ 3 on PET/MR, that were not detected or showed lower KS on PET/CT. In 12% of patients, PET/MRI modified clinical management. CONCLUSIONS: PET/MRI showed minor advantages over conventional PET/CT in the detection of new lesions but increased the intensity of SSRs expression in a significant number of them, opening the door to select which patients and clinical settings can benefit from performing PET/MRI.