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https://www.readbyqxmd.com/read/29791050/a-novel-clcn5-pathogenic-mutation-supports-dent-disease-with-normal-endosomal-acidification
#1
Yohan Bignon, Alexi Alekov, Nadia Frachon, Olivier Lahuna, Carine Jean-Baptiste Doh-Egueli, Georges Deschênes, Rosa Vargas-Poussou, Stéphane Lourdel
Dent disease in an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5 have been reported in patients with Dent disease 1. In vivo studies in mice harboring an artificial mutation in the "gating glutamate" of ClC-5 (c.632A > C, p.Glu211Ala) and mathematical modeling suggest that endosomal chloride concentration could be an important parameter in endocytosis, rather than acidification as earlier hypothesized...
May 23, 2018: Human Mutation
https://www.readbyqxmd.com/read/29775897/the-gastric-mucosal-protective-effects-of-astragaloside-iv-in-mnng-induced-gpl-rats
#2
Tiantian Cai, Chengzhe Zhang, Ziming Zhao, Siyi Li, Haobin Cai, Xiaodong Chen, Dake Cai, Wei Liu, Yan Yan, Kaifeng Xie, Huafeng Pan, Xiaohui Zeng
Gastric Cancer is one of the most common types of cancer. And the occurrence of gastric carcinoma is an evolutionary histopathological stage. As a result, further research of GPL, which is a borderline of gastric cancer, is indispensable for preventing the formation and development of gastric carcinoma. Several studies have demonstrated a correlation between the expression of autophagy, apoptosis and Gastric cancer (GC). However, the effects of autophagy and apoptosis on human gastric cancer progression, particularly on gastric precancerous lesions (GPL), have not totally been investigated...
May 15, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29767399/a-decreased-soluble-klotho-level-with-normal-egfr-fgf23-serum-phosphate-and-fep-in-an-adpkd-patient-with-enlarged-kidneys-due-to-multiple-cysts
#3
Takahiro Kanai, Kazuhiro Shiizaki, Hiroyuki Betsui, Jun Aoyagi, Takanori Yamagata
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder. ADPKD is characterized clinically by the presence of multiple bilateral renal cysts that lead to chronic renal failure. The cysts evolve from renal tubular epithelial cells that express the Klotho gene. Notably, Klotho acts as a co-receptor for fibroblast growth factor 23 (FGF23); in this context, it induces phosphaturia and maintains serum phosphate at a normal level. Many reports have shown that decreases in the soluble Klotho level and increases in the FGF23 level are associated with glomerular filtration rate (GFR) decline, but a recent study observed these changes in patient with normal eGFR...
May 16, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29741780/membrane-transport-at-an-organelle-interface-in-the-early-secretory-pathway-take-your-coat-off-and-stay-a-while-evolution-of-the-metazoan-early-secretory-pathway
#4
REVIEW
Michael G Hanna, Jennifer L Peotter, E B Frankel, Anjon Audhya
Most metazoan organisms have evolved a mildly acidified and calcium diminished sorting hub in the early secretory pathway commonly referred to as the Endoplasmic Reticulum-Golgi intermediate compartment (ERGIC). These membranous vesicular-tubular clusters are found tightly juxtaposed to ER subdomains that are competent for the production of COPII-coated transport carriers. In contrast to many unicellular systems, metazoan COPII carriers largely transit just a few hundred nanometers to the ERGIC, prior to COPI-dependent transport on to the cis-Golgi...
May 9, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29736405/renal-evaluation-in-common-variable-immunodeficiency
#5
Giovany Gomes Capistrano, Gdayllon Cavalcante Meneses, Fernanda Macedo de Oliveira Neves, Renata de Almeida Leitão, Alice Maria Costa Martins, Alexandre Braga Libório
Introduction: Common variable immunodeficiency (CVID) comprises a heterogeneous group of disorders characterized by impaired antibody production. Kidney involvement in CVID is described in isolated and sporadic case reports. The objective of this study was to study the renal function pattern in CVID patients through glomerular and tubular function tests. Methods: Study of 12 patients with CVID diagnosis and 12 healthy control individuals. Glomerular filtration rate (GFR), fractional excretion of sodium (FENa+ ) and potassium (FEK+ ), urinary concentration, and acidification capacity were measured...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29725637/cystatin-c-predicts-renal-recovery-earlier-than-creatinine-among-patients-with-acute-kidney-injury
#6
Kamel A Gharaibeh, Abdurrahman M Hamadah, Ziad M El-Zoghby, John C Lieske, Timothy S Larson, Nelson Leung
Introduction: Serum cystatin C increases earlier than creatinine during acute kidney injury. However, whether cystatin C decreases earlier during recovery is unknown. This retrospective study aimed to determine the temporal trend between creatinine and cystatin C in acute kidney injury. Methods: We identified hospitalized patients with nonoliguric acute kidney injury who had serial creatinine and cystatin C values measured between May 2015 and May 2016. Demographic and laboratory data, causes of acute kidney injury, and relevant comorbidity data were collected through chart review...
March 2018: KI Reports
https://www.readbyqxmd.com/read/29722904/renal-complications-of-lipodystrophy-a-closer-look-at-the-natural-history-of-kidney-disease
#7
Baris Akinci, Sadiye Mehtat Unlu, Ali Celik, Ilgin Yildirim Simsir, Sait Sen, Banu Nur, Fatma Ela Keskin, Basak Ozgen Saydam, Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Bekir Ugur Ergur, Melda Sonmez, Tahir Atik, Atakan Arslan, Tevfik Demir, Canan Altay, Ulku Aybuke Tunc, Tugba Arkan, Ramazan Gen, Erdal Eren, Gulcin Akinci, Aslihan Arasli Yilmaz, Habip Bilen, Samim Ozen, Aygul Celtik, Senay Savas Erdeve, Semra Cetinkaya, Huseyin Onay, Sulen Sarioglu, Elif Arioglu Oral
OBJECTIVES: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports. STUDY DESIGN: In this multi-center study, prospective follow-up data were collected from 103 subjects with non-HIV associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. METHODS: Main outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR)...
May 3, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29684933/-dysphagia-from-a-gastroenterologist-s-perspective
#8
Marcus Hollenbach, Jürgen Feisthammel, Joachim Mössner, Albrecht Hoffmeister
Swallowing disorders (dysphagia) comprise a common cause of medical consultation and are defined as a subjective sensation of difficulty or abnormality of swallowing. In the initial step, a clear differentiation of dysphagia from odynophagia and globus sensation for further diagnostic procedures is mandatory. The careful questioning of patients symptoms and complaints is often helpful for the differentiation of oropharyngeal and esophageal dysphagia. Oropharyngeal dysphagia is mainly caused by neurological disorders (cerebral ischemia, Parkinson's disease, dementia) or local compression of malignancies, thyroid gland or lymph nodes...
May 2018: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29660000/spermatogonial-behavior-in-marmoset-a-new-generation-their-kinetics-and-niche
#9
A L Caldeira-Brant, L Eras-Garcia, D Alves-Freitas, F R C L Almeida, H Chiarini-Garcia
STUDY QUESTION: Could a more detailed evaluation of marmoset spermatogonial morphology, kinetics, and niches using high-resolution light microscopy (HRLM) lead to new findings? SUMMARY ANSWER: Three new classes of marmoset spermatogonia, which were not evenly distributed in terms of number and position along the basal membrane, and an extra premeiotic cell division not present in humans were identified using HRLM. WHAT IS KNOWN ALREADY: The seminiferous epithelium cycle (SEC) of marmosets is divided into nine stages when based on the acrosome system, and several spermatogenic stages can usually be recognized within the same tubular cross-section...
April 11, 2018: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29657223/distal-renal-tubular-acidosis-in-sj%C3%A3-gren-s-syndrome
#10
Ram Narayan, Mansoor C Abdulla, Jemshad Alungal, N C Krishnadas
Interstitial nephritis and immune complex-mediated glomerulonephritis are the two common renal manifestations of primary Sjögren's syndrome (SS). Here, we discuss three cases of primary SS where presenting manifestation was distal renal tubular acidosis. The possibility of an underlying autoimmune disorder should be considered in a patient presenting with distal tubular acidosis or recurrent hypokalemic periodic paralysis as treatment of primary disease improves the outcome of illness.
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29657194/association-of-brucellosis-with-renal-tubular-and-glomerular-damage-in-children-in-turkey
#11
Secil Conkar, Muhammed Kosker, Saliha Cevik, Muzeyyen Ay
Brucellosis is a multisystem disease that may present with a broad spectrum of clinical manifestations. Until now, no studies have been performed on renal tubular disorders in patients with brucellosis. The present study aims to investigate renal tubular disorders in patients with brucellosis. This prospective case-control study includes a total of 31 brucellosis patients (Group 1) and 30 healthy controls (Group 2) matched for age and sex. Renal tubular functions of children who were diagnosed as having brucellosis in outpatient pediatric clinics were evaluated...
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29643947/comparison-of-saliva-nitric-oxide-between-chronic-kidney-disease-before-and-after-dialysis-and-with-control-group
#12
Fatemeh Rezaei, Reza Mohhamadi
Introduction: Chronic Kidney Disease (CKD) is a chronic progressive disorder and a major cause of death and disability in all countries. In the kidneys, Nitric Oxide (NO) has involved in several important cellular processes including glomerular and modular hemodynamics set-out, tubular - glomerular feedback reaction, renin releasing and extracellular fluid volume but NO can act as an inflammatory mediator and oxidative stress factor in high levels. Aim: The aim of this study was to evaluate salivary levels of NO in patients with chronic kidney disease on dialysis compared to the healthy subjects and evaluate the effect of dialysis on the level of NO in saliva...
2018: Open Dentistry Journal
https://www.readbyqxmd.com/read/29627839/genotype-phenotype-analysis-in-pediatric-patients-with-distal-renal-tubular-acidosis
#13
Eujin Park, Myung Hyun Cho, Hye Sun Hyun, Jae Il Shin, Joo Hoon Lee, Young Seo Park, Hyun Jin Choi, Hee Gyung Kang, Hae Il Cheong
BACKGROUND/AIMS: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. METHODS: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. RESULTS: Pathogenic mutations, including six novel mutations, were detected in 15 (88...
March 29, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29587650/biopsy-proven-vancomycin-induced-acute-kidney-injury-a-case-report-and-literature-review
#14
Anri Sawada, Kunio Kawanishi, Shohei Morikawa, Toshihiro Nakano, Mio Kodama, Mitihiro Mitobe, Sekiko Taneda, Junki Koike, Mamiko Ohara, Yoji Nagashima, Kosaku Nitta, Takahiro Mochizuki
BACKGROUND: Vancomycin is the first-line antibiotic for methicillin-resistant Staphylococcus aureus and coagulase-negative strains. The risk of vancomycin-induced acute kidney injury increases with plasma vancomycin levels. Vancomycin-induced acute kidney injury is histologically characterized by acute interstitial nephritis and/or acute tubular necrosis. However, only 12 biopsy-proven cases of vancomycin-induced acute kidney injury have been reported so far, as renal biopsy is rarely performed for such cases...
March 27, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29563333/osteopontin-deficiency-ameliorates-alport-pathology-by-preventing-tubular-metabolic-deficits
#15
Wen Ding, Keyvan Yousefi, Stefania Goncalves, Bradley J Goldstein, Alfonso L Sabater, Amy Kloosterboer, Portia Ritter, Guerline Lambert, Armando J Mendez, Lina A Shehadeh
Alport syndrome is a rare hereditary renal disorder with no etiologic therapy. We found that osteopontin (OPN) is highly expressed in the renal tubules of the Alport mouse and plays a causative pathological role. OPN genetic deletion ameliorated albuminuria, hypertension, tubulointerstitial proliferation, renal apoptosis, and hearing and visual deficits in the Alport mouse. In Alport renal tubules we found extensive cholesterol accumulation and increased protein expression of dynamin-3 (DNM3) and LDL receptor (LDLR) in addition to dysmorphic mitochondria with defective bioenergetics...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29558749/fabry-nephropathy-an-evidence-based-narrative-review
#16
María Del Pino, Amado Andrés, Ana Ávila Bernabéu, Joaquín de Juan-Rivera, Elvira Fernández, Juan de Dios García Díaz, Domingo Hernández, José Luño, Isabel Martínez Fernández, José Paniagua, Manuel Posada de la Paz, José Carlos Rodríguez-Pérez, Rafael Santamaría, Roser Torra, Joan Torras Ambros, Pedro Vidau, Josep-Vicent Torregrosa
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency...
March 16, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29552709/use-of-calcimimetics-in-children-with-normal-kidney-function
#17
Judith Sebestyen VanSickle, Tarak Srivastava, Uri S Alon
The calcium-sensing receptor (CaSR) plays an important role in the homeostasis of serum ionized calcium by regulating parathyroid hormone (PTH) secretion and tubular calcium handling. Calcimimetics, which act by allosteric modulation of the CaSR, mimic hypercalcemia resulting in suppression of PTH release and increase in calciuria. Mostly used in children to treat secondary hyperparathyroidism associated with advanced renal failure, we have shown that calcimimetics can also be successfully used in children with bone and mineral disorders in which elevated PTH plays a detrimental role in skeletal pathophysiology in the face of normal kidney function...
March 19, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29549422/impact-of-atypical-mitochondrial-cyclic-amp-level-in-nephropathic-cystinosis
#18
Francesco Bellomo, Anna Signorile, Grazia Tamma, Marianna Ranieri, Francesco Emma, Domenico De Rasmo
Nephropathic cystinosis (NC) is a rare disease caused by mutations in the CTNS gene encoding for cystinosin, a lysosomal transmembrane cystine/H+ symporter, which promotes the efflux of cystine from lysosomes to cytosol. NC is the most frequent cause of Fanconi syndrome (FS) in young children, the molecular basis of which is not well established. Proximal tubular cells have very high metabolic rate due to the active transport of many solutes. Not surprisingly, mitochondrial disorders are often characterized by FS...
March 16, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29527380/bartter-syndrome-type-1-presenting-as-nephrogenic-diabetes-insipidus
#19
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29515627/kidney-stone-disease-an-update-on-current-concepts
#20
REVIEW
Tilahun Alelign, Beyene Petros
Kidney stone disease is a crystal concretion formed usually within the kidneys. It is an increasing urological disorder of human health, affecting about 12% of the world population. It has been associated with an increased risk of end-stage renal failure. The etiology of kidney stone is multifactorial. The most common type of kidney stone is calcium oxalate formed at Randall's plaque on the renal papillary surfaces. The mechanism of stone formation is a complex process which results from several physicochemical events including supersaturation, nucleation, growth, aggregation, and retention of urinary stone constituents within tubular cells...
2018: Advances in Urology
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