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International Journal of Clinical... 2020An emergent pneumonia outbreak, denoted as coronavirus disease-2019 (COVID-19) by the World Health Organization (WHO) originated in Wuhan City, in late December 2019 and... (Review)
Review
UNLABELLED
An emergent pneumonia outbreak, denoted as coronavirus disease-2019 (COVID-19) by the World Health Organization (WHO) originated in Wuhan City, in late December 2019 and spread at an alarming rate to become a pandemic affecting more than 200 countries. The COVID-19 is caused by a novel coronavirus (2019-nCoV), which is highly contagious and is associated with a high mortality rate. The current COVID-19 outbreak has created a major havoc among every strata of the society with a detrimental impact on healthcare professionals, including dentists limiting their capabilities at large. The transmission of virus through aerosols produced by high- and low-speed handpieces, ultrasonic scalers, air/water syringes, or an infected patient coughing, and even when taking intraoral radiographs has made it difficult for dental personnel to provide even the most basic services to the needful. The virus survives on environmental surfaces for extended periods of time, including metal and plastic surfaces commonly found in dental offices making it utmost necessary to follow the precautions and recommendations issued by various organizations in order to contain its spread. This article aims to provide the latest knowledge encompassing the various aspects of COVID-19 to pediatric dentists in India.
HOW TO CITE THIS ARTICLE
Goswami M, Sharma S, Kumar G, Dealing with "Coronavirus Pandemic": A Dental Outlook. Int J Clin Pediatr Dent 2020;13(3):269-278.
PubMed: 32904125
DOI: 10.5005/jp-journals-10005-1757 -
Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.American Journal of Ophthalmology Case... Mar 2023To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic...
PURPOSE
To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic symptomatology.
OBSERVATIONS
A 16-year-old male presented with a several month history of nyctalopia and peripheral vision deficits. Central visual acuity, anterior and posterior segment examinations, and macular optical coherence tomography were unremarkable. Electroretinogram (ERG) testing revealed a rod-cone dystrophic pattern, with further workup demonstrating serum vitamin A deficiency (VAD). Laboratory evaluation revealed renal dysfunction and proteinuria with a significantly elevated urinary retinol-binding protein (RBP). Kidney biopsy showed glomerular and tubular disease.Genetic screening for inherited renal disease was performed identifying a hemizygous pathogenic variant c.2152C>T (p.Arg718*) in the ( gene, confirming the diagnosis of X-linked Dent Disease. Following vitamin A supplementation, our patient reported resolution of nyctalopia and reversal of abnormal ERG findings were demonstrated.
CONCLUSIONS AND IMPORTANCE
To our knowledge, this is the first case in the literature describing Dent disease solely presenting with ophthalmic symptoms of nyctalopia and abnormal electroretinogram findings that later reversed with vitamin A repletion. This case stresses the importance for clinicians to consider renal tubular disorders in the differential for VAD.
PubMed: 36578800
DOI: 10.1016/j.ajoc.2022.101781 -
British Dental Journal Jul 2020
Topics: Infectious Disease Transmission, Vertical
PubMed: 32710024
DOI: 10.1038/s41415-020-1936-5 -
Clinical Journal of the American... Dec 2016Dent disease is a rare X-linked disorder characterized by low molecular weight proteinuria and often considered a renal tubular disease. However, glomerulosclerosis was...
BACKGROUND AND OBJECTIVES
Dent disease is a rare X-linked disorder characterized by low molecular weight proteinuria and often considered a renal tubular disease. However, glomerulosclerosis was recently reported in several patients. Thus, Dent disease renal histopathologic features were characterized and assessed, and their association with kidney function was assessed.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS
Clinical renal pathology reports and slides (where available) were collected from 30 boys and men in eight countries who had undergone clinical renal biopsy between 1995 and 2014.
RESULTS
Median (25th, 75th percentiles) age at biopsy was 7.5 (5, 19) years with an eGFR of 69 (44, 94) ml/min per 1.73 m and a 24-hour urine protein of 2000 (1325, 2936) mg. A repeat biopsy for steroid-resistant proteinuria was performed in 13% (four of 30) of the patients. Prominent histologic findings included focal global glomerulosclerosis in 83% (25 of 30; affecting 16%±19% glomeruli), mild segmental foot process effacement in 57% (13 of 23), focal interstitial fibrosis in 60% (18 of 30), interstitial lymphocytic infiltration in 53% (16 of 30), and tubular damage in 70% (21 of 30). Higher percentages of globally sclerotic glomeruli, foot process effacement, and interstitial inflammation were associated with lower eGFR at biopsy, whereas foot process effacement was associated with steeper annual eGFR decline.
CONCLUSIONS
These associations suggest a potential role for glomerular pathology, specifically involving the podocyte, in disease progression, which deserves further study. Furthermore, Dent disease should be suspected in boys and men who have unexplained proteinuria with focal global glomerulosclerosis and segmental foot process effacement on renal biopsy.
Topics: Adolescent; Adult; Biopsy; Child; Child, Preschool; Dent Disease; Fibrosis; Glomerular Filtration Rate; Glomerulosclerosis, Focal Segmental; Humans; Infant; Kidney Glomerulus; Kidney Tubules; Lymphocytes; Male; Middle Aged; Young Adult
PubMed: 27697782
DOI: 10.2215/CJN.03710416 -
Genetics Research 2022Both Lowe syndrome and Dent-2 disease are caused by variants in the gene. However, the reason why patients with similar gene mutations presented with different...
BACKGROUND
Both Lowe syndrome and Dent-2 disease are caused by variants in the gene. However, the reason why patients with similar gene mutations presented with different phenotypes remains uncertain.
METHODS
Children with hemizygous pathogenic or likely pathogenic variants in were compiled from published and unpublished consecutive cases from China. Furthermore, a Chi-square test was employed to analyze the correlation of the location and types of mutations on the phenotype of children with Lowe syndrome or Dent-2 disease.
RESULTS
Among the total 83 patients, 70.8% (34/48) cases of Lowe syndrome presented with truncating mutations, while only 31.4% (11/35) cases of Dent-2 disease presented with truncating mutation (Χ = 12.662; < 0.001). Meanwhile, the majority of mutations in Dent-2 disease are located in Exon 2-12 (21/35, 60.0%), while the majority of mutations in Lowe syndrome are located in Exon 13-23 (39/48, 81.3%; Χ = 14.922; < 0.001).
CONCLUSIONS
Truncating mutations of the gene were more common in patients with Lowe syndrome than in Dent-2 disease, while mutation is more likely located at exon 2-12 in Dent-2 disease than that in Lowe syndrome. The type and location of mutation are important indicators for the phenotypes in patients with mutation. This is a large cohort study analyzing the genotype-phenotype correlation in patients with Lowe syndrome and Dent-2 disease in China. Our data may improve the interpretation of new variants and genetic counseling. Furthermore, a large international study would be necessary to illustrate the genotype-phenotype correlation in patients with mutations.
Topics: Cohort Studies; Genetic Association Studies; Humans; Mutation; Oculocerebrorenal Syndrome; Phosphoric Monoester Hydrolases
PubMed: 35919034
DOI: 10.1155/2022/1473260 -
Journal of the American Society of... Apr 2023Loss of function of the 2Cl - /H + antiporter ClC-5 in Dent disease causes an unknown impairment in endocytic traffic, leading to tubular proteinuria. The authors...
SIGNIFICANCE STATEMENT
Loss of function of the 2Cl - /H + antiporter ClC-5 in Dent disease causes an unknown impairment in endocytic traffic, leading to tubular proteinuria. The authors integrated data from biochemical and quantitative imaging studies in proximal tubule cells into a mathematical model to determine that loss of ClC-5 impairs endosome acidification and delays early endosome maturation in proximal tubule cells, resulting in reduced megalin recycling, surface expression, and half-life. Studies in a Dent mouse model also revealed subsegment-specific differences in the effects of ClC-5 knockout on proximal tubule subsegments. The approach provides a template to dissect the effects of mutations or perturbations that alter tubular recovery of filtered proteins from the level of individual cells to the entire proximal tubule axis.
BACKGROUND
Loss of function of the 2Cl - /H + antiporter ClC-5 in Dent disease impairs the uptake of filtered proteins by the kidney proximal tubule, resulting in tubular proteinuria. Reduced posttranslational stability of megalin and cubilin, the receptors that bind to and recover filtered proteins, is believed to underlie the tubular defect. How loss of ClC-5 leads to reduced receptor expression remains unknown.
METHODS
We used biochemical and quantitative imaging data to adapt a mathematical model of megalin traffic in ClC-5 knockout and control cells. Studies in ClC-5 knockout mice were performed to describe the effect of ClC-5 knockout on megalin traffic in the S1 segment and along the proximal tubule axis.
RESULTS
The model predicts that ClC-5 knockout cells have reduced rates of exit from early endosomes, resulting in decreased megalin recycling, surface expression, and half-life. Early endosomes had lower [Cl - ] and higher pH. We observed more profound effects in ClC-5 knockout cells expressing the pathogenic ClC-5 E211G mutant. Alterations in the cellular distribution of megalin in ClC-5 knockout mice were consistent with delayed endosome maturation and reduced recycling. Greater reductions in megalin expression were observed in the proximal tubule S2 cells compared with S1, with consequences to the profile of protein retrieval along the proximal tubule axis.
CONCLUSIONS
Delayed early endosome maturation due to impaired acidification and reduced [Cl - ] accumulation is the primary mediator of reduced proximal tubule receptor expression and tubular proteinuria in Dent disease. Rapid endosome maturation in proximal tubule cells is critical for the efficient recovery of filtered proteins.
Topics: Mice; Animals; Low Density Lipoprotein Receptor-Related Protein-2; Dent Disease; Endocytosis; Proteinuria; Endosomes; Kidney Tubules, Proximal; Disease Models, Animal; Mice, Knockout; Cell Culture Techniques; Antiporters
PubMed: 36758125
DOI: 10.1681/ASN.0000000000000084 -
Nefrologia Dec 2023Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction,...
BACKGROUND AND OBJECTIVES
Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic kidney disease, and low-weight proteinuria, the molecular hallmark of the disease. Currently, there is no specific curative treatment, only symptomatic and does not prevent the progression of the disease. In this study we have isolated and characterized urinary extracellular vesicles (uEVs) enriched in exosomes that will allow us to identify biomarkers associated with DD1 progression and a better understanding of the pathophysiological bases of the disease.
MATERIALS AND METHODS
Through a national call from the Spanish Society of Nephrology (SEN) and the Spanish Society of Pediatric Nephrology (AENP), urine samples were obtained from patients and controls from different Spanish hospitals, which were processed to obtain the uEVS. The data of these patients were provided by the respective nephrologists and/or extracted from the RENALTUBE registry. The uEVs were isolated by ultracentrifugation, morphologically characterized and their protein and microRNA content extracted.
RESULTS
25 patients and 10 controls were recruited, from which the urine was processed to isolate the uEVs. Our results showed that the relative concentration of uEVs/mL is lower in patients compared to controls (0.26 × 10 uEVs/mL vs 1.19 × 10 uEVs/mL, p < 0.01). In addition, the uEVs of the patients were found to be significantly larger than those of the control subjects (mean diameter: 187.8 nm vs 143.6 nm, p < 0.01). Finally, our data demonstrated that RNA had been correctly extracted from both patient and control exosomes.
CONCLUSIONS
In this work we describe the isolation and characterization of uEVs from patients with Dent 1 disease and healthy controls, that shall be useful for the subsequent study of differentially expressed cargo molecules in this pathology.
Topics: Child; Humans; Dent Disease; Exosomes; Nephrolithiasis; Nephrocalcinosis; MicroRNAs
PubMed: 38286722
DOI: 10.1016/j.nefroe.2024.01.016 -
International Journal of Clinical... 2022To review the effect of diabetes mellitus (DM) on the oral health status of children. (Review)
Review
AIM
To review the effect of diabetes mellitus (DM) on the oral health status of children.
BACKGROUND
Diabetes mellitus (DM) is one of the most severe chronic diseases in children and adolescents. It appears as type 1 DM and type 2 DM. Children are mainly diagnosed with type 1 DM. Genetic, as well as environmental factors, contribute to disease risk, indicating a multifactorial etiology. Early symptoms may vary from polyuria to anxiety or depression disorders.
REVIEW RESULTS
A variety of signs and symptoms have been reported regarding the oral health of DM children. Both dental and periodontal health is compromised. Qualitative and quantitative changes in saliva have also been reported. Moreover, there is a direct effect of type 1 DM on oral microflora and increased sensitivity to infections. A variety of protocols have been developed regarding the dental treatment of diabetic children.
CONCLUSION
Children with diabetes, due to the increased risk of periodontal disease and dental caries, are recommended to follow an intensive prevention program and a diet with strict instructions.
CLINICAL SIGNIFICANCE
The dental care provided to children with DM should be personalized, and all patients should follow a strict program of reexaminations. Moreover, the dentist may evaluate oral signs and symptoms of inadequately controlled diabetes and, in coordination with the patient's physician, can play a crucial role in maintaining oral and general health.
HOW TO CITE THIS ARTICLE
Davidopoulou S, Bitzeni-Nigdeli A, Archaki C, Oral Health Implications and Dental Management of Diabetic Children. Int J Clin Pediatr Dent 2022;15(5):631-635.
PubMed: 36865714
DOI: 10.5005/jp-journals-10005-2426 -
Intractable & Rare Diseases Research Feb 2017Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically...
Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. All 10 childhood cases of Dent disease in China presented with tubular proteinuria in the nephrotic range and hypercalciuria. The ratio of α1-microglobulinuria to microalbuminuria, if close to or above 1, can be used as a diagnostic criterion for tubuloproteinuria. Lotensin was ineffective at treating proteinuria while dihydrochlorothiazide reduced urine calcium excretion.
PubMed: 28357180
DOI: 10.5582/irdr.2016.01088 -
Clinical Biochemistry 2022Magnesium is the fourth most abundant cation in the human body, essential for physiological processes and is the electrolyte with levels commonly deranged in critically... (Review)
Review
Magnesium is the fourth most abundant cation in the human body, essential for physiological processes and is the electrolyte with levels commonly deranged in critically ill patients. These derangements of magnesium imbalance can go unnoticed and result in poor clinical outcomes, requiring both worthy attention to abnormal values and accurate tools and methods to measure magnesium reliably. At present, clinical laboratories employ various methodologies for measuring magnesium in blood and urine. This review aims to address the role of magnesium from not only physiological and pathophysiological perspectives, but importantly to review the methods for measuring magnesium with relevant analytical considerations. Given the role of magnesium and drugs for various treatments, measuring magnesium has become more relevant as drugs can lead to magnesium imbalances. Clinical manifestations and etiology of magnesium imbalance as divided into hypomagnesemia and hypermagnesemia are also reviewed.
Topics: Critical Illness; Humans; Magnesium; Magnesium Deficiency; Metabolic Diseases
PubMed: 35381264
DOI: 10.1016/j.clinbiochem.2022.04.001