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1.
Cir Pediatr ; 31(3): 125-129, 2018 Aug 03.
Article in Spanish | MEDLINE | ID: mdl-30260104

ABSTRACT

INTRODUCTION: Laparoscopic inguinal hernia and hydrocele repair has become an alternative to the more frequently used inguinal approach. We describe our experience with the laparoscopic technique. MATERIAL AND METHODS: Retrospective study of laparoscopic inguinal hernia and hydrocele repair performed during the period between 2003-2016. We included patients < 14 years, with communicating hydrocele and/or indirect inguinal hernia diagnosis (N = 39). We have studied two cohorts; group A patients with indirect inguinal hernia (N = 31) and group B patients with communicating hydrocele (N = 8). We used intraperitoneal laparoscopic approach, performing herniorrhaphy of the internal inguinal orifice without resection of the hernial sac. The main outcome measurements were surgical indication and postoperative complications. RESULTS: The indication for laparoscopic repair was bilateral defects (46.2%), unilateral defects (28.2%), defects associated with umbilical hernia (23.1%) and associated with another pathology (2.6%). In group A the rate of complications that required new admission was 3.2% and the recurrence rate was 9.7%. In group B, was 12.5% ​​and 12.5% respectively. We have not observed a significant relationship with respect to patient age, laterality or suture used and the rate of complications in any of the groups. CONCLUSIONS: Despite the limitations of our study given the small sample size and retrospective nature, the complication rate (15%) is higher than that published in the literature. This makes us take a step back to reassess our indications and technique, and not forget that the laparoscopic approach is not a technique without risks and requires a learning curve.


OBJETIVOS: La reparación laparoscópica de la hernia inguinal e hidroceles en la edad pediátrica, se ha convertido en una alternativa a la herniorrafia inguinal clásica. Describimos nuestra experiencia en las intervenciones realizadas con dicha técnica. MATERIAL Y METODOS: Estudio retrospectivo de las reparaciones laparoscópicas de hernia inguinal e hidrocele realizadas en el periodo 2003-2016. Se han incluido pacientes <14 años, diagnosticados de hidrocele comunicante y/o de hernia inguinal indirecta (N=39), divididos en dos cohortes: grupo A pacientes con hernia inguinal indirecta y grupo B pacientes con hidrocele comunicante. Se ha empleado el abordaje laparoscópico intraperitoneal, y anillorrafia del orificio inguinal interno sin resección del saco herniario. Las variables principales estudiadas han sido la indicación quirúrgica y las complicaciones postquirúrgicas. RESULTADOS: Las indicaciones quirúrgicas han sido los defectos bilaterales (46,2%), defectos unilaterales (28,2%), defectos asociados a hernia umbilical (23,1%) y asociados a otra patología (2,6%). En el grupo A la tasa de complicaciones que precisaron de ingreso fue de 3,2% y la tasa de recurrencias fue de 9,7%; mientras que en el B han sido del 12,5% y del 12,5% respectivamente. No hay una relación significativa respecto a la edad, la lateralidad o la sutura utilizada y la tasa de complicaciones en ninguno de los grupos. CONCLUSIONES: A pesar de las limitaciones del estudio, el porcentaje total de complicaciones (15,3%) es más elevado que el publicado en la literatura. Esto nos hace reflexionar y no olvidar que el abordaje laparoscópico no es una técnica exenta de riesgos y requiere de una curva de aprendizaje.


Subject(s)
Hernia, Inguinal/surgery , Herniorrhaphy/methods , Laparoscopy/methods , Testicular Hydrocele/surgery , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Peritoneal Diseases/pathology , Peritoneal Diseases/surgery , Postoperative Complications/epidemiology , Recurrence , Retrospective Studies , Treatment Outcome
2.
Phys Rev Lett ; 113(25): 255302, 2014 Dec 19.
Article in English | MEDLINE | ID: mdl-25554892

ABSTRACT

Complex solitary waves composed of intersecting vortex lines are predicted in a channeled superfluid. Their shapes in a cylindrical trap include a cross, spoke wheels, and Greek Φ, and trace the nodal lines of unstable vibration modes of a planar dark soliton in analogy to Chladni's figures of membrane vibrations. The stationary solitary waves extend a family of solutions that include the previously known solitonic vortex and vortex rings. Their bifurcation points from the dark soliton indicating the onset of new unstable modes of the snaking instability are predicted from scale separation for Bose-Einstein condensates (BECs) and superfluid Fermi gases across the BEC-BCS crossover, and confirmed by full numerical calculations. Chladni solitons could be observed in ultracold gas experiments by seeded decay of dark solitons.

3.
Patient Educ Couns ; 122: 108180, 2024 May.
Article in English | MEDLINE | ID: mdl-38330704

ABSTRACT

OBJECTIVE: To evaluate the efficacy of a therapeutic intervention based on self-adjustment strategies for improving of symptomatic severity and quality of life. METHODS: The study was a randomised single-blind clinical trial. Quality of life, disability, and functional impairment were collected. The control group received a leaflet with information on the main symptoms of Long-COVID-19 syndrome, in addition to standard medical treatment. The intervention group received treatment following a dual approach; on the one hand, monitoring and recognition of symptomatology and on the other hand, adaptation and functional improvement. RESULTS: A total of 54 participants were included, 27 were included in the intervention group and 27 in the control group. At the beginning of the study, no significant differences were found between groups. After intervention, the quality of life variable showed significant differences between groups in the self-care and anxiety/depression dimensions. Significant between-groups differences were also found for the self-care subscale of the disability variable. The intervention group showed significant differences from baseline on some subscales of the quality of life, disability, and functional impairment variables. CONCLUSION: Strategies based on lifestyle adjustments are adequate for the improvement of quality of life and symptom severity in the long COVID-19 population. PRACTICE IMPLICATION: The findings suggest that applying an intervention focused in self-adjustment for long COVID patients can have positive effects.


Subject(s)
COVID-19 , Quality of Life , Humans , Post-Acute COVID-19 Syndrome , Single-Blind Method , Life Style , Chronic Disease
4.
PeerJ ; 12: e17712, 2024.
Article in English | MEDLINE | ID: mdl-39193520

ABSTRACT

Centrolenidae is a Neotropical family widely distributed in Central and South America, with its species richness concentrated in the tropical Andes. Several taxonomic problems have been identified within this family, mostly related to species with broad geographic distributions. In this study, we assessed and redefined the species boundaries of the Centrolene buckleyi species complex, and formally described two new species from the Andes of Ecuador. These new taxa are recognized by a combination of morphometric, osteological, acoustic, and genetic data. Following IUCN criteria, we propose that the two new species should to be considered as Endangered (EN), mainly because of their small distributions and habitat loss. The C. buckleyi complex provides insights into the biogeography of closely related Andean species. As in other glassfrogs, speciation in Centrolene seems to be mediated by the linearity of the Andes, where gene flow can be restricted by topography and, also, local extinctions.


Subject(s)
Anura , Animals , Anura/genetics , Anura/anatomy & histology , Anura/classification , Ecosystem , Ecuador , Endangered Species , Phylogeny , Species Specificity
5.
PeerJ ; 12: e17344, 2024.
Article in English | MEDLINE | ID: mdl-38915382

ABSTRACT

The Jambato Harlequin toad (Atelopus ignescens), a formerly abundant species in the Andes of Ecuador, faced a dramatic population decline in the 1980s, with its last recorded sighting in 1988. The species was considered Extinct by the IUCN until 2016, when a fortuitous discovery of one Jambato by a local boy reignited hope. In this study, we present findings from an investigation conducted in the Angamarca parish, focusing on distribution, abundance, habitat preferences, ecology, disease susceptibility, and dietary habits of the species. In one year we identified 71 individuals at different stages of development in various habitats, with a significant presence in agricultural mosaic areas and locations near water sources used for crop irrigation, demonstrating the persistence of the species in a complex landscape, with considerable human intervention. The dietary analysis based on fecal samples indicated a diverse prey selection, primarily comprising arthropods such as Acari, Coleoptera, and ants. Amphibian declines have been associated with diseases and climate change; notably, our study confirmed the presence of the pathogen Batrachochytrium dendrobatidis (Bd), but, surprisingly, none of the infected Jambatos displayed visible signs of illness. When analyzing climatic patterns, we found that there are climatic differences between historical localities and Angamarca; the temporal analysis also exposes a generalized warming trend. Finally, in collaboration with the local community, we developed a series of management recommendations for terrestrial and aquatic environments occupied by the Jambato.


Subject(s)
Bufonidae , Ecosystem , Animals , Ecuador , Bufonidae/microbiology , Batrachochytrium , Conservation of Natural Resources
6.
Microbiol Spectr ; 12(8): e0333923, 2024 Aug 06.
Article in English | MEDLINE | ID: mdl-39012112

ABSTRACT

Chagas disease, leishmaniasis, and malaria are major parasitic diseases disproportionately affecting the underprivileged population in developing nations. Finding new, alternative anti-parasitic compounds to treat these diseases is crucial because of the limited number of options currently available, the side effects they cause, the need for long treatment courses, and the emergence of drug-resistant parasites. Anti-microbial peptides (AMPs) derived from amphibian skin secretions are small bioactive molecules capable of lysing the cell membrane of pathogens while having low toxicity against human cells. Here, we report the anti-parasitic activity of five AMPs derived from skin secretions of three Ecuadorian frogs: cruzioseptin-1, cruzioseptin-4 (CZS-4), and cruzioseptin-16 from Cruziohyla calcarifer; dermaseptin-SP2 from Agalychnis spurrelli; and pictuseptin-1 from Boana picturata. These five AMPs were chemically synthesized. Initially, the hemolytic activity of CZS-4 and its minimal inhibitory concentration against Escherichia coli, Staphylococcus aureus, and Candida albicans were determined. Subsequently, the cytotoxicity of the synthetic AMPs against mammalian cells and their anti-parasitic activity against Leishmania mexicana promastigotes, erythrocytic stages of Plasmodium falciparum and mammalian stages of Trypanosoma cruzi were evaluated in vitro. The five AMPs displayed activity against the pathogens studied, with different levels of cytotoxicity against mammalian cells. In silico molecular docking analysis suggests this bioactivity may occur via pore formation in the plasma membrane, resulting in microbial lysis. CZS-4 displayed anti-bacterial, anti-fungal, and anti-parasitic activities with low cytotoxicity against mammalian cells. Further studies about this promising AMP are required to gain a better understanding of its activity.IMPORTANCEChagas disease, malaria, and leishmaniasis are major tropical diseases that cause extensive morbidity and mortality, for which available treatment options are unsatisfactory because of limited efficacy and side effects. Frog skin secretions contain molecules with anti-microbial properties known as anti-microbial peptides. We synthesized five peptides derived from the skin secretions of different species of tropical frogs and tested them against cultures of the causative agents of these three diseases, parasites known as Trypanosoma cruzi, Plasmodium falciparum, and Leishmania mexicana. All the different synthetic peptides studied showed activity against one of more of the parasites. Peptide cruzioseptin-4 is of special interest since it displayed intense activity against parasites while being innocuous against cultured mammalian cells, which indicates it does not simply hold general toxic properties; rather, its activity is specific against the parasites.


Subject(s)
Anura , Leishmania mexicana , Plasmodium falciparum , Skin , Trypanosoma cruzi , Animals , Trypanosoma cruzi/drug effects , Plasmodium falciparum/drug effects , Humans , Leishmania mexicana/drug effects , Skin/parasitology , Skin/drug effects , Microbial Sensitivity Tests , Antimicrobial Cationic Peptides/pharmacology , Antimicrobial Cationic Peptides/chemistry , Antimicrobial Peptides/pharmacology , Antimicrobial Peptides/chemistry , Amphibian Proteins/pharmacology , Amphibian Proteins/chemistry , Ecuador , Chagas Disease/drug therapy
7.
bioRxiv ; 2024 Sep 03.
Article in English | MEDLINE | ID: mdl-39282294

ABSTRACT

Mycobacterium bovis Bacillus Calmette-Guerin (BCG) is the primary treatment for non-muscle-invasive bladder cancer (NMIBC), known to stimulate inflammatory cytokines, notably interferon (IFN)-γ. We observed that prolonged IFN-γ exposure fosters adaptive resistance in recurrent tumors, aiding immune evasion and tumor proliferation. We identify HLA-E and NKG2A, part of a novel NK and T cell checkpoint pathway, as key mediators of resistance in BCG-unresponsive NMIBC. IFN-γ enhances HLA-E and PD-L1 expression in recurrent tumors, with an enrichment of intra-tumoral NKG2A-expressing NK and CD8 T cells. CXCL9+ macrophages and dendritic cells and CXCL12-expressing stromal cells likely recruit CXCR3/CXCR4-expressing NK and T cells and CXCR7+ HLA-EHIGH tumor cells. NK and CD8 T cells remain functional within BCG-unresponsive tumors but are inhibited by HLA-E and PD-L1, providing a framework for combined NKG2A and PD-L1 blockade strategy for bladder-sparing treatment of BCG-unresponsive NMIBC.

8.
Vet Med Sci ; 9(3): 1021-1025, 2023 05.
Article in English | MEDLINE | ID: mdl-37002652

ABSTRACT

A 10-year-old mixed breed male cat presented with clinical signs related to chronic orthopaedic pain. Upon physical examination, pain was noted, based on the feline Musculoskeletal Pain Index (FMPI). An analgesic treatment with a full spectrum cannabis oil (1.8% CBD and 0.8% THC) was proposed for 30 days (0,5 mg/kg based on CBD). The FMPI scale score decreased more than 50%. This case reported a satisfactory outcome for the patient and the owner, although this medication could increase ALT. Given the paucity of literature published to date on the treatment of veterinary species with cannabis-based medications, further clinical and pharmacokinetic studies are necessary to study the safety and efficacy of its use.


Subject(s)
Cannabidiol , Chronic Pain , Cats , Male , Animals , Dronabinol/therapeutic use , Cannabidiol/therapeutic use , Chronic Pain/drug therapy , Chronic Pain/veterinary , Analgesics/therapeutic use
9.
Neural Regen Res ; 17(12): 2557-2562, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35662182

ABSTRACT

Random noise stimulation technique involves applying any form of energy (for instance, light, mechanical, electrical, sound) with unpredictable intensities through time to the brain or sensory receptors to enhance sensory, motor, or cognitive functions. Random noise stimulation initially employed mechanical noise in auditory and cutaneous stimuli, but electrical energies applied to the brain or the skin are becoming more frequent, with a series of clinical applications. Indeed, recent evidence shows that transcranial random noise stimulation can increase corticospinal excitability, improve cognitive/motor performance, and produce beneficial aftereffects at the behavioral and psychological levels. Here, we present a narrative review about the potential uses of random noise stimulation to treat neurological disorders, including attention deficit hyperactivity disorder, schizophrenia, amblyopia, myopia, tinnitus, multiple sclerosis, post-stroke, vestibular-postural disorders, and sensitivity loss. Many of the reviewed studies reveal that the optimal way to deliver random noise stimulation-based therapies is with the concomitant use of neurological and neuropsychological assessments to validate the beneficial aftereffects. In addition, we highlight the requirement of more randomized controlled trials and more physiological studies of random noise stimulation to discover another optimal way to perform the random noise stimulation interventions.

10.
Ophthalmol Retina ; 6(4): 263-267, 2022 04.
Article in English | MEDLINE | ID: mdl-34774838

ABSTRACT

PURPOSE: To evaluate the association among laser prophylaxis treatment, retinal detachment (RD), and visual acuity (VA) in patients with Stickler syndrome (SS). DESIGN: Retrospective comparative case series. PARTICIPANTS: Patients with SS. METHODS: Patients received extended vitreous base laser (EVBL), nonprotocol laser (NPL), or no laser prophylaxis treatment of any kind. MAIN OUTCOME MEASURES: The 2 main outcome measures that were examined in these patients were rates of RD and VA. RESULTS: In this study, 230 eyes of 115 patients were included. Fifty-nine patients were women (51%). The median age at the time of laser prophylaxis treatment was 9.5 years (interquartile range [IQR], 6-13 years), and the median age of patients with RD was 11 years (IQR, 7-18 years). Of the 230 eyes, 92 did not undergo any laser treatment, 9 received NPL treatment, and 129 received EVBL treatment. Of the 129 eyes that underwent EVBL treatment, 4 (3%) had RD, compared with 74 eyes (73%) that had RD and did not receive laser or NPL treatment (P < 0.001). Eyes that received EVBL treatment had approximately 8 lines better vision, on average, compared with those that did not receive laser or NPL treatment (-0.86 logarithm of the minimum angle of resolution; 95% confidence interval,-1.1 to -0.64; P < 0.001). CONCLUSIONS: Treatment with EVBL seems to reduce the rate of subsequent RD and is associated with better VA in patients with SS.


Subject(s)
Connective Tissue Diseases , Eye Diseases, Hereditary , Retinal Detachment , Adolescent , Arthritis , Child , Connective Tissue Diseases/complications , Connective Tissue Diseases/diagnosis , Eye Diseases, Hereditary/complications , Female , Hearing Loss, Sensorineural , Humans , Lasers , Retinal Detachment/complications , Retinal Detachment/diagnosis , Retinal Detachment/surgery , Retrospective Studies
11.
Sci Rep ; 12(1): 10842, 2022 06 27.
Article in English | MEDLINE | ID: mdl-35761034

ABSTRACT

The Last Glacial Termination (T1) featured major changes in global circulation systems that led to a shift from glacial to interglacial climate. While polar ice cores attest to an antiphased thermal pattern at millennial timescales, recent well-dated moraine records from both hemispheres suggest in-phase fluctuations in glaciers through T1, which is inconsistent with the bipolar see-saw paradigm. Here, we present a glacier chronology based on 30 new 10Be surface exposure ages from well-preserved moraines in the Lago Palena/General Vintter basin in northern Patagonia (~ 44°S). We find that the main glacier lobe underwent profound retreat after 19.7 ± 0.7 ka. This recessional trend led to the individualization of the Cerro Riñón glacier by ~ 16.3 ka, which underwent minor readvances at 15.9 ± 0.5 ka during Heinrich Stadial 1, during the Antarctic Cold Reversal with successive maxima at 13.5 ± 0.4, 13.1 ± 0.4, and 13.1 ± 0.5 ka, and a minor culmination at 12.5 ± 0.4 ka during Younger Dryas time. We conclude that fluctuations of Patagonian glaciers during T1 were controlled primarily by climate anomalies brought by shifts in the Southern Westerly Winds (SWW) locus. We posit that the global covariation of mountain glaciers during T1 was linked to variations in atmospheric CO2 (atmCO2) promoted by the interplay of the SWW-Southern Ocean system at millennial timescales.


Subject(s)
Ice Cover , Wind , Antarctic Regions , Climate
12.
Exp Ther Med ; 20(6): 162, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33093900

ABSTRACT

The present study was an open-label, prospective, uncontrolled and multicenter clinical trial to investigate the safety and effectiveness of bevacizumab (Lumiere®) administered by the intravitreal route for the treatment of neovascular age-related macular degeneration (nAMD). A total of 22 patients without previous treatment with anti-vascular endothelial growth factor were recruited. Monthly therapy with 1.25 mg intravitreal bevacizumab was applied. Adverse events (AE), visual acuity (VA) and central retinal thickness (CRT) were assessed at baseline, day 1 and day 28 after each injection. A total of 87 AEs were reported; most of them were not serious (96.6%), expected (65.5%) and occurred after the third injection (56.3%). The most frequent AE was 'conjunctival hemorrhage' (29.9% of AEs), attributed to the injection procedure. Treatment was not suspended due to safety reasons in any case. After six months, a statistically significant gain of +8.2 (SD±8.8) letters and a CRT reduction of -75.50 µm (SD±120.3) were achieved with unilateral therapy. VA improvement and CRT reduction were also achieved with bilateral therapy, although to a lesser extent. The results of the present study suggested that therapy with a minimum of 3 doses of bevacizumab over a 6-month period was well tolerated and resulted in a sustained response regarding VA improvement and CRT reduction from the beginning of therapy compared with the baseline value. The study protocol was registered at clinicaltrials.gov (ref. no. NCT03668054).

13.
Rev Sci Tech ; 28(3): 1119-28, 2009 Dec.
Article in Spanish | MEDLINE | ID: mdl-20462171

ABSTRACT

The emergence of antimicrobial-resistant microorganisms, in both humans and animals, calls for the development of new strategies for administering antibiotics in order to bring these microorganisms under control and, most importantly, to prevent the risk of resistant bacteria being transmitted to animals and humans. One such microorganism, Staphylococcus aureus, especially its methicillin-resistant strains, is particularly hazardous to public health. This study, conducted in intensive rabbit farms in Spain, has demonstrated a high prevalence of S. aureus strains, 17.2% of which were found to be methicillin-resistant. The study also unveiled very high resistance to quinolones and to some forms of penicillin. This source of multidrug resistance merits special attention in view of the problems it poses for choosing suitable treatment and the risk of this resistance being transmitted to humans, either from direct contact or via the food chain.


Subject(s)
Anti-Bacterial Agents/pharmacology , Drug Resistance, Bacterial , Public Health , Staphylococcal Infections/drug therapy , Staphylococcal Infections/veterinary , Staphylococcus aureus/drug effects , Animals , Breeding , Food Chain , Humans , Methicillin-Resistant Staphylococcus aureus , Microbial Sensitivity Tests , Rabbits , Staphylococcal Infections/microbiology , Staphylococcal Infections/transmission , Zoonoses
15.
Arch Soc Esp Oftalmol ; 83(10): 607-14, 2008 Oct.
Article in Spanish | MEDLINE | ID: mdl-18855281

ABSTRACT

OBJECTIVE/METHOD: A 50-year-old hyperopic woman requested information about refractive surgery. Vesicle and band lesions at Descemet's membrane and endothelium were suggestive of posterior polymorphous dystrophy (PPD). Lower than normal endothelial cell densities were detected. A corneal refractive procedure was not recommended in this case. RESULTS/CONCLUSIONS: The presence of vesicles and bands at Descemet's membrane and endothelium is suggestive of PPD. Specular microscopy is mandatory in such patients, although corneal decompensation is not evident. A low endothelial cell count may be a contraindication for a hyperopic LASIK procedure in cases of PPD because of the possible risk of corneal decompensation.


Subject(s)
Corneal Dystrophies, Hereditary/surgery , Keratomileusis, Laser In Situ , Contraindications , Female , Humans , Middle Aged
16.
Sci Rep ; 8(1): 10940, 2018 Jul 19.
Article in English | MEDLINE | ID: mdl-30026577

ABSTRACT

Embedded solitons are rare self-localized nonlinear structures that, counterintuitively, survive inside a continuous background of resonant states. While this topic has been widely studied in nonlinear optics, it has received almost no attention in the field of Bose-Einstein condensation. In this work, we consider experimentally realizable Bose-Einstein condensates loaded in one-dimensional optical lattices and demonstrate that they support continuous families of stable three-dimensional (3D) embedded solitons. These solitons can exist inside the resonant continuous Bloch bands because they are protected by symmetry. The analysis of the Bogoliubov excitation spectrum as well as the long-term evolution after random perturbations proves the robustness of these nonlinear structures against any weak perturbation. This may open up a way for the experimental realization of stable 3D matter-wave embedded solitons as well as for monitoring the gap-soliton to embedded-soliton transition.

17.
Blood Cancer J ; 8(12): 117, 2018 11 19.
Article in English | MEDLINE | ID: mdl-30455467

ABSTRACT

Here, we investigated for the first time the frequency and number of circulating tumor plasma cells (CTPC) in peripheral blood (PB) of newly diagnosed patients with localized and systemic plasma cell neoplasms (PCN) using next-generation flow cytometry (NGF) and correlated our findings with the distinct diagnostic and prognostic categories of the disease. Overall, 508 samples from 264 newly diagnosed PCN patients, were studied. CTPC were detected in PB of all active multiple myeloma (MM; 100%), and smoldering MM (SMM) patients (100%), and in more than half (59%) monoclonal gammopathy of undetermined significance (MGUS) cases (p <0.0001); in contrast, CTPC were present in a small fraction of solitary plasmacytoma patients (18%). Higher numbers of CTPC in PB were associated with higher levels of BM infiltration and more adverse prognostic features, together with shorter time to progression from MGUS to MM (p <0.0001) and a shorter survival in MM patients with active disease requiring treatment (p ≤ 0.03). In summary, the presence of CTPC in PB as assessed by NGF at diagnosis, emerges as a hallmark of disseminated PCN, higher numbers of PB CTPC being strongly associated with a malignant disease behavior and a poorer outcome of both MGUS and MM.


Subject(s)
Flow Cytometry , Monoclonal Gammopathy of Undetermined Significance/diagnosis , Multiple Myeloma/diagnosis , Neoplastic Cells, Circulating/metabolism , Plasma Cells/metabolism , Adult , Aged , Aged, 80 and over , Biomarkers , Diagnosis, Differential , Female , Flow Cytometry/methods , Humans , Immunophenotyping , Male , Middle Aged , Monoclonal Gammopathy of Undetermined Significance/metabolism , Multiple Myeloma/metabolism , Neoplasm Staging , Neoplastic Cells, Circulating/pathology , Plasma Cells/pathology , Prognosis , Sensitivity and Specificity
18.
Eur J Ophthalmol ; 17(3): 424-9, 2007.
Article in English | MEDLINE | ID: mdl-17534828

ABSTRACT

PURPOSE: To report a family with lattice corneal dystrophy type II (LCD II) associated with systemic amyloidosis type V. METHODS: A 69-year-old woman presented a LCD II and marked dermachalasis. A lower blepharoplasty was performed. Two years later a penetrating keratoplasty was performed in her left eye. Three children of the patient were studied. Subtle manifestations of LCD were identified in two of them. Pathologic study of the excised skin and corneal button was made. DNA from peripheral blood was obtained, and was subjected to amplification of exon 5 of the gelsolin. RESULTS: Pathologic examination of the skin of blepharoplasty specimen demonstrated the presence of amyloid. Microscopic examination of the corneal button showed the presence of amyloid deposits beneath the normal-appearing Bowman layer and also within the stroma. Immunostaining for S-100 protein did not demonstrate a significant relationship between amyloid deposits and corneal nerves. Electron microscopic evaluation demonstrated the presence of amyloid fibrils. No clear relationship was found between amyloid deposits and corneal nerves. These findings confirm LCD type II or Meretoja syndrome. A mutation analysis of the gelsolin gene demonstrated the presence of G to A transition at nucleotide 654. Two children with manifestations of LCD also showed the identical mutation in gelsolin gene. CONCLUSIONS: A new family with Meretoja syndrome is reported. This is the first documented family with Meretoja syndrome in Spain and in the Mediterranean countries. The molecular study shows the same mutation of reported families from Finland, Japan, the United States, and the United Kingdom.


Subject(s)
Amyloidosis, Familial/genetics , Amyloidosis, Familial/pathology , Corneal Dystrophies, Hereditary/genetics , Corneal Dystrophies, Hereditary/pathology , Gelsolin/genetics , Point Mutation , Aged , Amyloid/metabolism , Amyloidosis, Familial/metabolism , Blepharoplasty , Corneal Dystrophies, Hereditary/metabolism , DNA Mutational Analysis , Exons/genetics , Female , Humans , Male , Pedigree , Polymerase Chain Reaction , Spain , Syndrome
19.
Leukemia ; 31(10): 2094-2103, 2017 10.
Article in English | MEDLINE | ID: mdl-28104919

ABSTRACT

Flow cytometry has become a highly valuable method to monitor minimal residual disease (MRD) and evaluate the depth of complete response (CR) in bone marrow (BM) of multiple myeloma (MM) after therapy. However, current flow-MRD has lower sensitivity than molecular methods and lacks standardization. Here we report on a novel next generation flow (NGF) approach for highly sensitive and standardized MRD detection in MM. An optimized 2-tube 8-color antibody panel was constructed in five cycles of design-evaluation-redesign. In addition, a bulk-lysis procedure was established for acquisition of ⩾107 cells/sample, and novel software tools were constructed for automatic plasma cell gating. Multicenter evaluation of 110 follow-up BM from MM patients in very good partial response (VGPR) or CR showed a higher sensitivity for NGF-MRD vs conventional 8-color flow-MRD -MRD-positive rate of 47 vs 34% (P=0.003)-. Thus, 25% of patients classified as MRD-negative by conventional 8-color flow were MRD-positive by NGF, translating into a significantly longer progression-free survival for MRD-negative vs MRD-positive CR patients by NGF (75% progression-free survival not reached vs 7 months; P=0.02). This study establishes EuroFlow-based NGF as a highly sensitive, fully standardized approach for MRD detection in MM which overcomes the major limitations of conventional flow-MRD methods and is ready for implementation in routine diagnostics.


Subject(s)
Flow Cytometry/methods , Immunophenotyping/methods , Multiple Myeloma/diagnosis , Plasma Cells/pathology , Adult , Aged , Aged, 80 and over , Antibody Specificity , Cell Count , Equipment Design , Female , Flow Cytometry/instrumentation , Humans , Immunophenotyping/instrumentation , Male , Middle Aged , Multiple Myeloma/drug therapy , Multiple Myeloma/pathology , Neoplasm, Residual , Sensitivity and Specificity , Software , Specimen Handling , Treatment Outcome
20.
Transplant Proc ; 38(8): 2534-6, 2006 Oct.
Article in English | MEDLINE | ID: mdl-17097992

ABSTRACT

BACKGROUND: Brain naturietic peptide (BNP) elevations have been reported in heart transplant patients both at baseline and during rejection. An association between BNP levels and certain echocardiographic and hemodynamic abnormalities has also been found in nontransplanted heart disease patients. We sought to determine whether BNP values were correlated with echocardiographic and hemodynamic parameters among a large cohort of heart transplant patients. MATERIALS AND METHODS: We studied 71 consecutive heart transplant patients, excluding combined grafts, retransplants, and pediatric cases. We performed 488 BNP determinations during catheterization and within 48 hours of echocardiography. Hemodynamic parameters included mean pulmonary artery pressure, right ventricular systolic and diastolic pressures. Doppler echocardiography parameters were wall thickness, ventricular mass, left and right ventricular end-diastolic and end-systolic diameters, isovolumic relaxation time, and mitral flow deceleration time. RESULTS: We observed significant correlations between BNP values and left ventricular size, ventricular mass, and a restrictive filling pattern. BNP levels were also significantly correlated with right ventricular size, mean pulmonary artery pressure, and right ventricular diastolic and end-diastolic pressures. CONCLUSIONS: In heart transplant patients, BNP levels positively correlated with ventricular diameters and a restrictive filling pattern. An increase in right ventricle and pulmonary artery pressures was associated with elevated BNP values.


Subject(s)
Blood Pressure , Heart Transplantation/physiology , Natriuretic Peptide, Brain/blood , Biomarkers/blood , Electrocardiography , Humans , Patient Selection
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