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https://www.readbyqxmd.com/read/28334007/a-functional-variant-in-neph3-gene-confers-high-risk-of-renal-failure-in-primary-hematuric-glomerulopathies-evidence-for-predisposition-to-microalbuminuria-in-the-general-population
#1
Konstantinos Voskarides, Charalambos Stefanou, Myrtani Pieri, Panayiota Demosthenous, Kyriakos Felekkis, Maria Arsali, Yiannis Athanasiou, Dimitris Xydakis, Kostas Stylianou, Eugenios Daphnis, Giorgos Goulielmos, Petros Loizou, Judith Savige, Martin Höhne, Linus A Völker, Thomas Benzing, Patrick H Maxwell, Daniel P Gale, Mathias Gorski, Carsten Böger, Barbara Kollerits, Florian Kronenberg, Bernhard Paulweber, Michalis Zavros, Alkis Pierides, Constantinos Deltas
BACKGROUND: Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a possible development for a subset of patients on long-term follow-up, through the onset of focal and segmental glomerulosclerosis (FSGS). We hypothesize that genetic modifiers may explain this variability of symptoms. METHODS: We looked in silico for potentially deleterious functional SNPs, using very strict criteria, in all the genes significantly expressed in the slit diaphragm (SD)...
2017: PloS One
https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#2
REVIEW
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28331461/peritoneal-dialysis-complicated-by-pleuroperitoneal-communication-and-hydrothorax
#3
Julian Yaxley, Kevin Twomey
BACKGROUND: Hydrothorax is an uncommon but well-recognized complication of peritoneal dialysis. It is a potentially serious condition that frequently requires cessation of peritoneal dialysis and permanent transition to hemodialysis. Hydrothorax is produced by movement of peritoneal dialysate through pleuroperitoneal fistulas. Pleural fluid analysis typically detects a high glucose concentration, and contrast imaging reveals tracer uptake transgressing the diaphragm. Experience with the treatment of hydrothorax related to peritoneal dialysis is limited...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28329257/lessons-learned-at-the-epicenter-of-brazil-s-congenital-zika-epidemic-evidence-from-87-confirmed-cases
#4
Jucille do Amaral Meneses, Ana Catarina Ishigami, Luisa Medeiros de Mello, Luciano Lira de Albuquerque, Carlos Alexandre Antunes de Brito, Marli Tenório Cordeiro, Lindomar José Pena
Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV specific antibodies and sera were screened for other congenital infections...
February 24, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28328996/diaphragmatic-function-is-enhanced-in-fatty-and-diabetic-fatty-rats
#5
Audrey De Jong, Serge Carreira, Na Na, Aude Carillion, Cheng Jiang, Maud Beuvin, Jean-Marc Lacorte, Dominique Bonnefont-Rousselot, Bruno Riou, Catherine Coirault
BACKGROUND: Obesity is associated with a decrease in mortality in the intensive care unit (ICU) (the "obesity paradox"). We hypothesized that obesity may paradoxically improve diaphragmatic function. METHODS: Diaphragm contractility was prospectively recorded in vitro in adult male Zucker lean (control), fatty, and diabetic fatty rats, at rest, after 12h mechanical ventilation and after fatigue. We analyzed diaphragm morphology, cytokines, and protein expression of the protein kinase signaling pathways...
2017: PloS One
https://www.readbyqxmd.com/read/28326639/mesenchymal-stem-cells-attenuate-adriamycin-induced-nephropathy-by-diminishing-oxidative-stress-and-inflammation-via-downregulation-of-the-nf-kb
#6
In-Hwan Song, Kyong-Jin Jung, Tae-Jin Lee, Joo-Young Kim, Eon-Gi Sung, Young Chul Bae, Young Hoon Park
AIM: This study aimed to evaluate the molecular mechanism mitigating progress of chronic nephropathy by mesenchymal stem cells. METHODS: Rats were divided into normal control (Normal), ADR + vehicle (CON), and ADR + MSC (MSC) groups. Nephropathy was induced by ADR (4 mg/kg) and MSCs (2 × 10(6) ) were injected. Rats were sacrificed 1 or 6 weeks after ADR injection. NF-kB, MAPKs, inflammation, oxidative stress, profibrotic molecules, and nephrin expression were evaluated...
March 21, 2017: Nephrology
https://www.readbyqxmd.com/read/28324716/postnatal-mri-for-cdh-a-pictorial-review-of-late-presenting-and-recurrent-diaphragmatic-defects
#7
REVIEW
Wendy Kim, Jesse Courtier, Cara Morin, Narendra Shet, Eric Strauch, Jane S Kim
Late-presenting or recurrent diaphragmatic defects can pose a diagnostic challenge due to varying clinical presentations. Current diagnostic approaches include plain film radiograph for initial assessment, with other imaging modalities such as fluoroscopy, ultrasound, CT and MRI mainly utilized for troubleshooting. As a radiation-free modality, MRI can provide a more definitive diagnosis in particular cases due to its ability to visualize discontinuity of the diaphragm, distinguishing it from eventration. MRI can also accurately characterize hernia contents, defect location and size...
March 8, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28322344/enhanced-transmissions-through-three-dimensional-cascade-sharp-waveguide-bends-using-c-slit-diaphragms
#8
Rui Yang, Bowei Hu, Aofang Zhang, Dongxing Gao, Hui Wang, Ayuan Shi, Zhenya Lei, Pei Yang
Transmission properties through sharp rectangular waveguide bends are investigated to determine the cut-off bending angles of the wave propagation. We show that a simple metallic diaphragm at the bending corner with properly devised sub-wavelength defect apertures of C-slits would be readily to turn on the transmissions with scarce reflections of the propagating modes, while preserving the integrity of the transmitting fields soon after the bends. In particularly, our design also demonstrates the capability of eliminating all the unwanted cavity resonant transmissions that exist in the three-dimensional cascade sharp waveguide bends, and solely let the desired signals travel along the whole passage of the waveguide...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28318634/dna-methyltransferase-1-may-be-a-therapy-target-for-attenuating-diabetic-nephropathy-and-podocyte-injury
#9
Li Zhang, Qianmei Zhang, Shuangxin Liu, Yuanhan Chen, Ruizhao Li, Ting Lin, Chunping Yu, Hong Zhang, Zhongshun Huang, Xinchen Zhao, Xiaofan Tan, Zhuo Li, Zhiming Ye, Jianchao Ma, Bin Zhang, Wenjian Wang, Wei Shi, Xinling Liang
The contribution of DNA methylation to diabetic nephropathy, especially the effect on podocyte integrity, is not clarified. Here we found that albuminuria in a db/db mouse model was markedly attenuated after treatment with a DNA methylation inhibitor. This was accompanied by alleviation of glomerular hypertrophy, mesangial matrix expansion, and podocyte injury. The expression of DNA methyltransferase 1 (Dnmt1), nuclear factor Sp1, and nuclear factor kappa B (NFκB)-p65 markedly increased in podocytes in vivo and in vitro under the diabetic state...
March 15, 2017: Kidney International
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#10
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28303560/-diaphramatic-herniation-of-abdominal-contents-case-series-and-review-of-the-literature
#11
Jonas Raakow, Jan Schulte-Mäter, Andreas Andreou, Matthias Biebl, Johann Pratschke, Maik Kilian
Background An enterothorax with herniation of bowel segments through a diaphragmatic defect is a rare postoperative complication, which can occur in the early postoperative period as well as several months or even years after the primary procedure. In virtually all cases, this diagnosis requires surgical treatment with reposition of the herniated structures and closure of the diaphragmatic defect. The aim of this study was to describe a larger case series of a rare complication and to present a review of the literature...
February 2017: Zentralblatt Für Chirurgie
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#12
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28302142/maximum-inspiratory-pressure-as-a-clinically-meaningful-trial-endpoint-for-neuromuscular-diseases-a-comprehensive-review-of-the-literature
#13
REVIEW
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T Kissel, Shyam C Madathil, David Orlikowski, Michael I Polkey, Mark Roberts, Harm A W M Tiddens, Peter Young
Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28299706/microfluidic-pouch-chips-for-immunoassays-and-nucleic-acid-amplification-tests
#14
Michael G Mauk, Changchun Liu, Xianbo Qiu, Dafeng Chen, Jinzhao Song, Haim H Bau
Microfluidic cassettes ("chips") for processing and analysis of clinical specimens and other sample types facilitate point-of-care (POC) immunoassays and nucleic acid based amplification tests. These single-use test chips can be self-contained and made amenable to autonomous operation-reducing or eliminating supporting instrumentation-by incorporating laminated, pliable "pouch" and membrane structures for fluid storage, pumping, mixing, and flow control. Materials and methods for integrating flexible pouch compartments and diaphragm valves into hard plastic (e...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28298960/lung-volume-reduction-coils-as-a-novel-bronchoscopic-treatment-for-emphysema
#15
Timothy A Connolly
Chronic obstructive pulmonary disease remains a major cause of morbidity and mortality worldwide. Despite regular advances in pharmacology, there remains great potential for addressing structural deficiencies, especially in emphysema. The loss of alveolar attachments to small bronchial tubes results in diffuse loss of elastic recoil and airway collapse during exhalation. This appears physiologically as hyperinflation of lung volumes with flattened diaphragms and significantly elevated residual volumes (RV) on pulmonary function testing (predicted RV > 175%)...
October 2016: Methodist DeBakey Cardiovascular Journal
https://www.readbyqxmd.com/read/28298842/preoperative-parameters-and-their-prognostic-value-in-amyotrophic-lateral-sclerosis-patients-undergoing-implantation-of-a-diaphragm-pacing-stimulation-system
#16
Aydın Şanlı, Ihsan Şükrü Şengün, Volkan Karaçam, Aylin Özgen Alpaydın, Kemal Can Tertemiz, Sevgi Özalevli, Bahar Ağaoğlu Şanlı, Alper Kaya, Nezih Özdemir
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease with devastating and fatal respiratory complications. Diaphragm pacing stimulation (DPS) is a treatment option in diaphragm insufficient ALS patients. Ventilatory insufficiency depending on diaphragmatic failure is treated by the present study aimed to investigate prognostic value of preoperative clinical and functional characteristics of ALS patients undergoing implantation of a DPS system and to determine appropriate indications for the DPS system...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28298401/impact-of-tumour-thickness-on-survival-after-radical-radiation-and-surgery-in-malignant-pleural-mesothelioma
#17
Marc de Perrot, Zhi Dong, Penelope Bradbury, Demetris Patsios, Shaf Keshavjee, Natasha B Leighl, Andrew Hope, Ronald Feld, John Cho
Tumour thickness was assessed to determine if this parameter could refine patients' selection for multimodality therapy in malignant pleural mesothelioma.We reviewed 65 consecutive treatment-naïve malignant pleural mesothelioma patients undergoing surgery for mesothelioma after radiation therapy (SMART). Total tumour thickness was determined by measuring the maximal thickness on nine predefined sectors on the chest wall, mediastinum and diaphragm.After a median follow-up of 19 months, 40 patients (62%) developed recurrence and 36 died (55%)...
March 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28297830/-ct-typing-and-surgical-approach-for-adenocarcinoma-of-the-esophagogastric-junction
#18
Y Z Zhao, G S Han, P F Ma, J Li, C Y Liu, M K Huo
Objective: To investigate the feasibility, safety and efficacy of preoperative CT in the classification of adenocarcinoma of the esophagogastric junction. Methods: A total of 517 consecutive patients from May 2012 to June 2016 with esophagogastric junction carcinoma in the department of general surgery of Henan Cancer Hospital was retrospectively analyzed, according to the clinical pathological data of three type four layer method and statistics of various types of surgery in patients with preoperative enhanced CT...
March 7, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28297276/rounded-leaf-end-modeling-in-pinnacle-vmat-treatment-planning-for-fixed-jaw-linacs
#19
Lori A Young, Fei Yang, Ning Cao, Juergen Meyer
During volume-modulated arc therapies (VMAT), dosimetric errors are introduced by multiple open dynamic leaf gaps that are present in fixed diaphragm linear accelerators. The purpose of this work was to develop a methodology for adjusting the rounded leaf end modeling parameters to improve out-of-field dose agreement in SmartArc VMAT treatment plans delivered by fixed jaw linacs where leaf gap dose is not negligible. Leaf gap doses were measured for an Elekta beam modulator linac with 0.4 cm micro-multileaf collimators (MLC) using an A16 micro-ionization chamber, a MatriXX ion chamber detector array, and Kodak EDR2 film dosimetry in a solid water phantom...
November 2016: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/28295295/palynological-investigation-of-mummified-human-remains
#20
Karl J Reinhard, Marina Milanello do Amaral, Nicole Wall
Pollen analysis was applied to a mummified homicide victim in Nebraska, U.S.A., to determine the location of death. A control sample showed the normal ambient pollen in the garage crime scene. Ambient windborne types, common in the air of the region, dominated the control. Internal samples were analyzed from the sacrum, intestine, and diaphragm. Microfossils were recovered from the rehydrated intestine lumen. The intestinal sample was dominated by Brassica (broccoli). The sacrum sample was high in dietary types but with a showing of ambient types...
March 10, 2017: Journal of Forensic Sciences
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