456 research outputs found
Molecular and clinical Endo-phenotyping of patients affected by Chronic Kidney Diseases and Podocytopathies
No full textBetween 15–20% of patients with end stage renal disease (ESRD) do not know the cause of the primary kidney disease and can develop complications after kidney transplantation. We performed a genetic screening in 300 patients with kidney transplantation, or undiagnosed primary renal disease, in order to identify the primary disease cause and discriminate between overlapping phenotypes. We used a custom-made panel for next-generation sequencing (Agilent technology, Santa Clara, CA, USA), including genes associated with Fabry disease, podocytopaties, complementmediated nephropathies and Alport syndrome-related diseases. We detected candidate diagnostic variants in genes associated with nephrotic syndrome, collagen genes and Focal Segmental Glomerulosclerosis (FSGS) in 29 out of 300 patients, solving about 10% of the probands. Interestingly we also found one female patient carrying a novel missense variant, c.1259C>A (p.Thr420Lys), in the GLA gene not previously associated with Fabry disease, which is in silico defined as a likely pathogenic and destabilizing, and associated with a mild alteration in GLA enzymatic activity. Thanks to a collaborative international collaboration we also identified anti-NPHS1 antibody in a cohort of patients affected by podocytopathies, clarifying important new insight. The identification of the specific genetic background may provide an opportunity to evaluate the risk of recurrence of the primary disease, especially among patient candidates living with a donor kidney transplant.Tra il 15 e il 20% dei pazienti con malattia renale allo stadio terminale (ESRD) non conosce la causa che ha condotto alla malattia renale cronica e può sviluppare complicanze dopo il trapianto di rene. Abbiamo eseguito uno screening genetico in 300 pazienti sottoposti a trapianto di rene o affetti da malattia renale cronica/ ESRd da causa sconosciuta, al fine di identificare la causa primaria della malattia e discriminare tra potenziali fenotipi sovrapposti. Abbiamo utilizzato un pannello personalizzato per il sequenziamento di DNA attraverso Next Generation Sequencing (tecnologia Agilent, Santa Clara, CA, USA), che includeva il gene GLA associato alla malattia di Fabry, geni che causano sindrome nefrosica e podocitopatie, geni del complemento e geni associati a collagenopatie e sindrome di Alport. Abbiamo individuato varianti patogeniche nei geni associati alla sindrome nefrosica, sindrome di Alport ed alla glomerulosclerosi focale segmentale (FSGS) in 29 pazienti su 300, risolvendo circa il 10% dei probandi. È interessante notare che abbiamo anche trovato una paziente portatrice di una nuova variante missense, c.1259C>A (p.Thr420Lys), nel gene GLA non precedentemente associato alla malattia di Fabry, che è in silico definita come probabilmente patogena e destabilizzante e associata a una lieve alterazione dell’attività enzimatica del GLA. Grazie ad una collaborazione internazionale abbiamo identificato in una coorte di pazienti affetti da podocitopatie, la presenza di anticorpi anti NPHS1, chiarendo alcuni aspetti non noti della fisiopatologia della sindrome nefrosica. L'identificazione del background genetico specifico può fornire l'opportunità di valutare il rischio di recidiva della malattia primaria, soprattutto tra i pazienti candidati che vivono con un trapianto di rene da donatore
Podocytes: the role of lysosomes in the development of nephrotic syndrome
No full textThis commentary highlights the article by Guangbi Li et al that links ceramide accumulation in podocytes to cellular damage and nephrotic syndrome
Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?
No full textFocal segmental glomerulosclerosis (FSGS) is a complex disease which describes different kinds of kidney defects, not exclusively linked with podocyte defects. Since nephrin mutation was first described in association with early-onset nephrotic syndrome (NS), many advancements have been made in understanding genetic patterns associated with FSGS. New genetic causes of FSGS have been discovered, displaying unexpected genotypes, and recognizing possible site of damage. Many recent large-scale sequencing analyses on patients affected by idiopathic chronic kidney disease (CKD), kidney failure (KF) of unknown origin, or classified as FSGS, have revealed collagen alpha IV genes, as one of the most frequent sites of pathogenic mutations. Also, recent interest in complex and systemic lysosomal storage diseases, such as Fabry disease, has highlighted GLA mutations as possible causes of FSGS. Tubulointerstitial disease, recently classified by KDIGO based on genetic subtypes, when associated with UMOD variants, may phenotypically gain FSGS features, as well as ciliopathy genes or others, otherwise leading to completely different phenotypes, but found carrying pathogenic variants with associated FSGS phenotype. Thus, glomerulosclerosis may conceal different heterogeneous conditions. When a kidney biopsy is performed, the principal objective is to provide an accurate diagnosis. The broad spectrum of phenotypic expression and genetic complexity is demonstrating that a combined path of management needs to be applied. Genetic investigation should not be reserved only to selected cases, but rather part of medical management, integrating with clinical and renal pathology records. FSGS heterogeneity should be interpreted as an interesting opportunity to discover new pathways of CKD, requiring prompt genotype-phenotype correlation. In this review, we aim to highlight how FSGS represents a peculiar kidney condition, demanding multidisciplinary management, and in which genetic analysis may solve some otherwise unrevealed idiopathic cases. Unfortunately there is not a uniform correlation between specific mutations and FSGS morphological classes, as the same variants may be identified in familial cases or sporadic FSGS/NS or manifest a variable spectrum of the same disease. These non-specific features make diagnosis challenging. The complexity of FSGS genotypes requires new directions. Old morphological classification does not provide much information about the responsible cause of disease and misdiagnoses may expose patients to immunosuppressive therapy side effects, mistaken genetic counseling, and misguided kidney transplant programs
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Adele Shtern: Catalog of Works and Images
No full textAdele Shtern was born in Montreal and received her BA in Design from Concordia University. She was awarded a Design Canada grant to study Graphic Design in the MFA program at Yale University. She has been a Professor of Art at the Tyler School of Art, the University of Bridgeport, FIT, and Baruch College/CUNY. She is currently an adjunct Professor in the Music and Art Department at BMCC/CUNY. She lives in Long Island City, NY where she continues to be an active artist. She is the co-author of an oral history book entitled Nicky D from LIC.
Shtern is considered a pioneer in computer art. Her involvement with digital art began in 1983 at the New York Institute of Technology on a University of Bridgeport grant. Committed to the process of art as a form of healing, Shtern conceived Lotus Cusp, a multimedia presentation re 9.11 with her BMCC/CUNY students. Several of her images are now on the 9.11 online Memorial Artists’ Registry. Her work has been exhibited extensively in solo and group shows in the US, Canada, Europe and Japan. It has been published internationally and has received many awards.
Adele Shtern embraces her calling as a multi-disciplinary artist using traditional and digital media. She takes pleasure in discovering visually interesting sights in diverse loci. Her creative process involves opening herself to the revelation of seeing the familiar in new ways. Painterly and abstract aspects of the environment catch her eye.
Shtern’s digital photos are part of an ongoing series of photographic explorations. Some of the sites have since been transformed or no longer exist. This record preserves the memory of what once existed, as a visual and cultural archive.
Types of work include: photographs, photomontages, journals of drawings, digital montage, gouache paintings, handmade paper, poetry and music
The Journey from Australia to Italy of Alice Pung’s Bestselling Novel
No full textAlice Pung's Unpolished Gem was translated into Italian in 2010. Giving some examples of the challenge this work of translation presented, Adele D'Arcangelo will try to put Pung's novel in the picture of a wider production of multicultural literature available in Italy. Positive aspects related to the reception of Gemma Impura in Italy will be pointed out as well as the vital and fundamental collaboration between author and translator. The innate potentialities of Unpolished Gem to transform a personal experience in a universal one were doubled by the translation of the book in another language, allowing a wider and more eclectic readership to become familiar with Alice's story, and making its Australian setting overcome the boundaries of language and spac
MUSIC THERAPY REDUCES ANXIETY AND PAIN AND IMPROVES SATISFACTION IN PATIENTS UNDERGOING PERCUTANEOUS RENAL BIOPSY
No full textBACKGROUND AND AIMS
Percutaneous kidney biopsy (PRB) is an invasive procedure performed under local anaesthesia that often creates anxiety, stress and pain in the patient before, during and after the procedure. Music therapy (MT), defined as the clinical- and evidence-based use of music, is administered by a trained professional to achieve individualized goals within a therapeutic relationship between patient, music and music therapist. MT can be used as a complementary non-drug intervention to prevent and treat emotional distress and pain. The main objectives of the study were
1. evaluate the effectiveness of MT in managing anxiety, pain and satisfaction in patients undergoing PRB.
2. investigate the effect of MTI on heart rate variability (HRV).
METHOD
This study was a two-arm, single-centre, parallel-group and pre–post PRB randomized controlled trial. Patients programmed for PRB were enrolled (n = 80) and assigned to the MT intervention group (MG, n = 40) or standard treatment [control group (CG), n = 40]. MG received, from a FAMI-certified music therapist, a personalized playlist administered during the PRB, adapted to the individual patient. Patient anxiety was assessed before and after PRB using the State Y-1 Trait Anxiety Inventory (STAI-Y1). A visual analog scale (VAS) was used for self-assessment of pain (VAS-P) and satisfaction (VAS-S). Physiological stress parameters (PRE–POST) were assessed using HRV (SDNN, RMSSD, LH/HF, SD1, SD2) from E4 wristbands—Empatica Inc.1. The bracelet was placed 5 min before the patient entered the operating room for the procedure and removed after the completion of the PRB. The data of each session were divided into two segments: (1) pre, before the administration of the local anesthetic and (2) post, after the conclusion of the biopsy.
RESULTS
A statistically significant difference in anxiety levels was observed between the MG and CG groups (35.35 ± 6.208 versus 42.83 ± 9.027; P < 0.001, Fig. 1). The MG group showed significantly lower VAS-P values (4.95 ± 1.377 versus 6.28 ± 1.281; P < 0.001, Fig. 2) and higher VAS-S values (7.75 ± 0.981 versus 6.03 ± 0.800; P < 0.001) after PRB compared with the CG group (Fig. 3). The SDNN (P < 0.034), RMSDD (P < 0.04) and SD2 (P < 0.027) measurements of HRV were significantly higher in MG than in CG, while LF/HF decreased (P < 0.033).
CONCLUSION
This study supports the efficacy of MT in reducing anxiety and pain and improving satisfaction in patients undergoing PRB. MT modulates the autonomic nervous system, reducing sympathetic activity, increasing parasympathetic activity and inducing physiological relaxation
Dr. Kate Adele Hill Collection
No full textFinding Tool created by the West Texas Collection.Dr. Kate Adele Hill, a native of Travis County and the author of three books related to her work as a county home demonstration agent, was the granddaughter of Sam H. Hill, early Schleicher County settler. The family’s ranching interests were in Kerr, Schleicher, and Tom Green Counties, Her father was W.H. Hill. The collection includes four books, magazines, newspaper clippings, family photographs, and genealogy on the Hill family. Genealogy is located in the Vertical Files.Dr. Kate Adele Hil
Analysis Of Idioms Found In Selected Song Lyrics Of Adele
No full textThis article discusses the analysis of idioms found in Adele song lyrics. The method used in this research is a qualitative approach. Data collection was carried out by the author through Adele song lyrics such as Easy on me, Rolling in the dark, Someone like you, Hello, Send my love and others. The final product features every idiom Palmer uses in select songs. Partial idiomatic phrases consist of 7 (70%) phrases, followed by phrasal verbs (2, 20%), and prepositional verbs (1, 10%). In some of Adele songs, some idioms terms with unique meanings derived from Adele songs dominate. There are many idioms, each with a special meaning. The researcher divides meaning into conceptual meaning, connotative meaning, theme meaning, emotive meaning, reflected meaning, stylistic meaning, and collactive meaning
Altered Expression of the CB1 Cannabinoid Receptor in the Triple Transgenic Mouse Model of Alzheimer's Disease
No full textThe endocannabinoid system has gained much attention as a new potential pharmacotherapeutic target in various neurodegenerative diseases, including Alzheimer's disease (AD). However, the association between CB1 alterations and the development of AD neuropathology is unclear and often contradictory. In this study, brain CB1 mRNA and CB1 protein levels were analyzed in 3 × Tg-AD mice and compared to wild-type littermates at 2, 6 and 12 months of age, using in-situ hybridization and immunohistochemistry, respectively. Semiquantitative analysis of CB1 expression focused on the prefrontal cortex (PFC), prelimbic cortex, dorsal hippocampus (DH), basolateral amygdala complex (BLA), and ventral hippocampus (VH), all areas with high CB1 densities that are strongly affected by neuropathology in 3 × Tg-AD mice. At 2 months of age, there was no change in CB1 mRNA and protein levels in 3 × Tg-AD mice compared to Non-Tg mice in all brain areas analyzed. However, at 6 and 12 months of age, CB1 mRNA levels were significantly higher in PFC, DH, and BLA, and lower in VH in 3 × Tg-AD mice compared to wild-type littermates. CB1 immunohistochemistry revealed that CB1 protein expression was unchanged in 3 × Tg-AD at 2 and 6 months of age, while a significant decrease in CB1 receptor immunoreactivity was detected in the BLA and DH of 12-month-old 3 × Tg-AD mice, with no sign of alteration in other brain areas. The altered CB1 levels appear, rather, to be age-and/or pathology-dependent, indicating an involvement of the endocannabinoid system in AD pathology and supporting the ECS as a potential novel therapeutic target for treatment of AD
Memoirs of Adele Sarpy Morrison.
No full textGilt top edge.Author's autograph presentation copy."One hundred copies of this book have been privately printed for distribution among friends of the author."Mode of access: Internet
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