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dent syndrome

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https://www.readbyqxmd.com/read/29875851/the-spectrum-of-kidney-diseases-in-children-associated-with-low-molecular-weight-proteinuria
#1
Shpetim Salihu, Katerina Tosheska, Natasa Aluloska, Zoran Gucev, Svetlana Cekovska, Velibor Tasic
BACKGROUND: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and tubulointerstitial are diagnosed based on its presence. AIM: The purpose of this study is to describe the clinical features, the course and outcome of pediatric patients with a renal disease associated with LMWP. MATERIAL AND METHODS: This retrospective observational study included 250 pediatric patients with various kidney diseases in which the type of proteinuria was defined by 4-20% gradient gel sodium dodecyl sulphate polyacrylamide gel (SDS-PAG) electrophoresis...
May 20, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29849040/congenital-chloride-diarrhea-needs-to-be-distinguished-from-bartter-and-gitelman-syndrome
#2
Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, Azusa Kawaguchi, Naoya Fujita, Naoya Morisada, Shingo Ishimori, Tomohiko Yamamura, Shogo Minamikawa, Tomoko Horinouchi, Keita Nakanishi, Junya Fujimura, Takeshi Ninchoji, Ichiro Morioka, Hiroaki Nagase, Mariko Taniguchi-Ikeda, Hiroshi Kaito, Kazumoto Iijima
Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD)...
May 30, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29552446/the-ratio-of-urinary-%C3%AE-1-microglobulin-to-microalbumin-can-be-used-as-a-diagnostic-criterion-for-tubuloproteinuria
#3
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Low-molecular-weight proteinuria is one of the characteristic clinical manifestations of renal tubular and interstitial diseases. Low-molecular-weight proteinuria is defined as excessive urinary loss of α1-microglobulin, β2-microglobulin, or other low-molecular-weight plasma proteins. The current study examined the ratio of urinary α1-microglobulin to microalbumin in 24 Chinese pediatric patients with renal tubular and interstitial diseases, including 10 patients with Dent disease, 2 patients with Lowe syndrome, 6 patients with acute tubulointerstitial nephritis (ATIN), 4 patients with acute tubulointerstitial nephritis with uveitis syndrome (TINU), and 2 patients with nephronophthisis (NPHP)...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29430722/patients-affected-by-dent-disease-2-could-be-predisposed-to-hidradenitis-suppurativa
#4
LETTER
P Marzuillo, V Piccolo, M Mascolo, A Apicella, G Argenziano, N Della Vecchia, S Guarino, E Miraglia Del Giudice, A La Manna
No abstract text is available yet for this article.
February 11, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29391272/identification-of-co-occurrence-in-a-patient-with-dent-s-disease-and-ada2-deficiency-by-exome-sequencing
#5
Roman Günthner, Matias Wagner, Tobias Thurm, Sabine Ponsel, Julia Höfele, Bärbel Lange-Sperandio
Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Single exome sequencing revealed the pathogenic nonsense mutation p...
April 5, 2018: Gene
https://www.readbyqxmd.com/read/29300302/splicing-analysis-of-exonic-ocrl-mutations-causing-lowe-syndrome-or-dent-2-disease
#6
Lorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, Felix Claverie-Martin
Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing...
January 4, 2018: Genes
https://www.readbyqxmd.com/read/29104392/association-between-fever-and-primary-tooth-eruption-a-systematic-review-and-meta-analysis
#7
REVIEW
Mariana A Nemezio, Katharina Mh De Oliveira, Priscilla C Romualdo, Alexandra M Queiroz, Francisco Wg Paula-E-Silva, Raquel Ab Silva, Erika C Küchler
Aim: To perform a systematic review and meta-analysis to establish if fever is associated with primary tooth eruption. Materials and methods: Literature searches involved Pubmed, MEDLINE, Web of Science, Scopus and Cochrane. The potentially relevant studies had the full text analyzed. Only studies concerning fever during eruption period of primary tooth in humans were included. Papers in non-English language, and papers that included syndromic patients or patients with any disease were excluded...
July 2017: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29045964/-increased-serum-c-c-chemokine-ligand-19-levels-correlated-with-b-cell-abnormalities-in-systemic-lupus-erythematosus
#8
H J Liu, L J Shi, F L Hu, H H Yao, Z G Li, Y Jia
OBJECTIVE: To detect the levels of serum C-C chemokine ligand 19 (CCL19) in patients with systemic lupus erythematosus (SLE) and to evaluate the correlation between CCL19 expression and clinical features and laboratory parameters, trying to reveal the possible role of CCL19 in the pathogenesis of systemic lupus erythematosus. METHODS: The levels of serum CCL19 were measured by enzyme linked immunosorbent assay (ELISA) in 90 patients with SLE and 30 healthy controls...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28952833/hypomethylating-agents-in-myelodysplastic-syndromes-and-population-level-outcomes-a-changing-landscape-or-a-small-dent
#9
Amer M Zeidan
No abstract text is available yet for this article.
May 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28941052/the-spectrum-of-dnmt3a-variants-in-tatton-brown-rahman-syndrome-overlaps-with-that-in-hematologic-malignancies
#10
Wei Shen, Jennifer M Heeley, Colleen M Carlston, Rocio Acuna-Hidalgo, Willy M Nillesen, Karin M Dent, Ganka V Douglas, Kara L Levine, Pinar Bayrak-Toydemir, Carlo L Marcelis, Marwan Shinawi, John C Carey
De novo, germline variants in DNMT3A cause Tatton-Brown-Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic DNMT3A variants frequently occur in hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue is the most common site of somatic DNMT3A variants, and has also been altered in patients with TBRS. Here we present three additional patients with this disorder attributed to DNMT3A germline variants that disrupt the Arg882 codon, suggesting that this codon may be a germline mutation hotspot in this disorder...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28927284/shared-medical-appointments-for-patients-with-a-nondiabetic-physical-chronic-illness-a-systematic-review
#11
F Kelly, C Liska, R Morash, J Hu, S L Carroll, R Shorr, S Dent, D Stacey
Objectives Shared medical appointments are group appointments, with an optional individual consultation, for patients diagnosed with chronic illnesses. Shared medical appointments improve diabetes management, but little is known about their use for other illnesses. The objective was to determine the effect that shared medical appointments have on patients with a physical chronic illness, healthcare providers, and the healthcare system. Methods A systematic review was conducted searching databases from January 1970 to September 2016...
January 1, 2017: Chronic Illness
https://www.readbyqxmd.com/read/28890628/multiple-bilateral-unerupted-supplemental-premolars-an-unusual-presentation-in-a-nonsyndromic-patient
#12
V Satish, Suman Panda, Prabhadevi Maganur, Ather Ahmed
Supernumerary teeth are one of the routinely encountered developmental disturbances representing one or more extra teeth in the jaws. These may resemble the teeth of the group to which it belongs, i.e., molars, premolars, or incisors, or it may bear little or no resemblance. Based on the morphologic appearance, it is classified as supplemental teeth or rudimentary teeth. The supplemental teeth are those that resemble the teeth to which it is associated and rudimentary teeth are those that do not resemble the teeth...
April 2017: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#13
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
November 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28733699/a-prospective-study-of-docetaxel-associated-pain-syndrome
#14
Nicholas Chiu, Liying Zhang, Rebecca Dent, Angie Giotis, Jenna van Draanen, Daniela Gallo-Hershberg, Leonard Chiu, Ronald Chow, Bo Angela Wan, Mark Pasetka, Jordan Stinson, Erica Stacey, Sunil Verma, Henry Lam, Edward Chow, Carlo DeAngelis
PURPOSE: To investigate the natural history of taxane-associated acute pain syndrome (TAPS) in a docetaxel patient cohort and to examine the long-term manifestation of TAPS. PATIENTS AND METHODS: For three consecutive treatment cycles, taxane-naive breast cancer patients completed diaries on days 1-7, 14, and 21 and telephone questionnaires 1, 3, 6, 9, and 12 months following treatment. Questionnaires to assess pain and interference were adapted from the Brief Pain Inventory...
January 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28715540/predictors-of-hand-foot-syndrome-and-pyridoxine-for-prevention-of-capecitabine-induced-hand-foot-syndrome-a-randomized-clinical-trial
#15
RANDOMIZED CONTROLLED TRIAL
Yoon-Sim Yap, Li-Lian Kwok, Nicholas Syn, Wen Yee Chay, John Whay Kuang Chia, Chee Kian Tham, Nan Soon Wong, Soo Kien Lo, Rebecca Alexandra Dent, Sili Tan, Zuan Yu Mok, King Xin Koh, Han Chong Toh, Wen Hsin Koo, Marie Loh, Raymond Chee Hui Ng, Su Pin Choo, Richie Chuan Teck Soong
Importance: Hand-foot syndrome (HFS) is a common adverse effect of capecitabine treatment. Objective: To compare the incidence and time to onset of grade 2 or greater HFS in patients receiving pyridoxine vs placebo and to identify biomarkers predictive of HFS. Design, Setting, and Participants: This single-center, randomized double-blind, placebo-controlled phase 3 trial conducted at National Cancer Centre Singapore assessed whether oral pyridoxine could prevent the onset of grade 2 or higher HFS in 210 patients scheduled to receive single-agent capecitabine chemotherapy for breast, colorectal, and other cancers...
November 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28669993/the-5-phosphatase-ocrl-in-lowe-syndrome-and-dent-disease-2
#16
REVIEW
Maria Antonietta De Matteis, Leopoldo Staiano, Francesco Emma, Olivier Devuyst
Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase (OCRL) that acts on phosphoinositides - quantitatively minor constituents of cell membranes that are nonetheless pivotal regulators of intracellular trafficking. In this Review we summarize the considerable progress made over the past decade in understanding the cellular roles of OCRL in regulating phosphoinositide balance along the endolysosomal pathway, a fundamental system for the reabsorption of proteins and solutes by proximal tubular cells...
August 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28386229/clc-channels-and-transporters-structure-physiological-functions-and-implications-in-human-chloride-channelopathies
#17
REVIEW
Diogo R Poroca, Ryan M Pelis, Valérie M Chappe
The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl(-) transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl(-) ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. ClC proteins form transmembrane dimers, in which each monomer displays independent ion conductance. Eukaryotic members also possess a large cytoplasmic domain containing two CBS domains, which are involved in transport modulation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28314577/nanotubes-the-fast-track-to-treatment-of-dent-disease
#18
COMMENT
Thomas E Willnow
Studies in mice have suggested bone marrow transplantation as a strategy to correct the endocytic dysfunction of the proximal tubules in renal Fanconi syndrome, yet the mode of action has remained mysterious. Using a mouse model of Dent disease, Gabriel et al. now show that rescue of the resorptive capacity in the diseased kidney involves cell-to-cell contact between engrafted and host cells via nanotubes, cellular projections that enable transfer of wild-type activity into mutant cells of the proximal tubule...
April 2017: Kidney International
https://www.readbyqxmd.com/read/28127173/crouzon-s-syndrome-a-rare-genetic-disorder
#19
Anupriya Kaushik, Hindpal Bhatia, Naresh Sharma
Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early, then it may interfere with the growth of the brain. The disease is characterized by craniosynostosis, with associated dentofacial anomalies...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28127172/orocraniofacial-findings-of-a-pediatric-patient-with-joubert-syndrome
#20
Mridula Goswami, Anju S Rajwar, Mahesh Verma
Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging...
October 2016: International Journal of Clinical Pediatric Dentistry
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