scholarly journals Skin biomarkers for cystic fibrosis: a potential noninvasive approach for patient screening

2017 ◽  
Author(s):  
Cibele Zanardi Esteves ◽  
Letícia de Aguiar Dias ◽  
Estela de Oliveira Lima ◽  
Diogo Noin de Oliveira ◽  
Carlos Fernando Odir Rodrigues Melo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
High Resolution Mass Spectrometry ◽  
Low Cost ◽  
Chloride Concentration ◽  
Metabolic Changes ◽  
Chemical Markers ◽  
Sample Collection ◽  
Metabolic Disturbances ◽  
Disease Evolution ◽  
Potential Biomarkers

ABSTRACTBackgroundCystic fibrosis is a disabling genetic disease with an increased prevalence in populations with European heritage. Currently, the most used technique for collection of cystic fibrosis samples and diagnosis is provided through uncomfortable tests, with uncertain results, mostly based on chloride concentration in sweat. Since cystic fibrosis mutation induces many metabolic changes in patients, exploring these alterations might be an alternative to visualize potential biomarkers that could be used as interesting tools for further diagnostic upgrade, prioritizing simplicity, low cost and quickness.MethodsThis contribution describes an accurate strategy to provide potential biomarkers related to cystic fibrosis, which may be understood as a potential tool for new diagnostic approaches and/or for monitoring disease evolution. Therefore, the present proposal consists of using skin imprints on silica plates as a way of sample collection, followed by direct-infusion high-resolution mass spectrometry and multivariate data analysis, intending to identify metabolic changes in skin composition of cystic fibrosis patients.ResultsMetabolomics analysis allowed identifying chemical markers that can be traced back to cystic fibrosis in patients’ skin imprints, differently from control subjects. Seven chemical markers from several molecular classes were elected, represented by bile acids, a glutaric acid derivative, thyrotropin releasing hormone, an inflammatory mediator, a phosphatidic acid, and diacylglycerol isomers, all reflecting metabolic disturbances that occur due to of cystic fibrosis.ConclusionThe comfortable method of sample collection combined with the identified set of biomarkers represent potential tools that open the range of possibilities to manage cystic fibrosis and follow the disease evolution. This exploratory approach points to new perspectives about cystic fibrosis management and maybe to further development of a new diagnostic assay based on them.

Detection of Anomalous Sodium Chloride Concentrations in Perspiration Using Microsensors

2014 ◽  
Author(s):  
David Gaibor ◽  
Mehdi Goulamaly ◽  
Nilu Jariwala ◽  
Mark Piontkowski ◽  
Mansour Zenouzi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sodium Chloride ◽  
Bacterial Infections ◽  
Low Cost ◽  
Common Knowledge ◽  
Chloride Concentration ◽  
Electrical Signal ◽  
Electrical Signals ◽  
Early Disease Detection ◽  
Sweat Sample

It is common knowledge that an early diagnosis of a disease improves the treatment provided to a patient. With the advent of nanotechnology, engineers and scientists are beginning to utilize these nanoscale capabilities in the hope of - early disease detection. Viral, bacterial infections and other chronic diseases seem to alter the concentrations of some compounds present in sweat [1,2]. This project attempts to detect some of these diseases by measuring the variation in salinity of sweat that differs from the commonly accepted level [2]. By creating a low-cost, reusable and portable microsensor, it can then apply the same principles to construct a nanosensor to yield even more accurate results. The electrical signals obtained by the sensor produce data that translates into diagnostic medical results for sweat-related illnesses such as cystic fibrosis [3]. For a deeper and thorough understanding of all aspects of the sensor, multiple concepts for measuring sweat using electrical signals were considered. Ultimately, the concept chosen to measure varying sweat concentrations was through a capacitor. Multiple capacitor designs were simulated to determine the best way of maximizing performance. After the sensors were constructed, they were tested using various concentrations of sodium chloride (NaCl), from 0.1 grams per liter to 5 grams per liter, dissolved in distilled water to mimic the effect of authentic human sweat [4]. The designed sensor is successfully able to determine the likelihood of a person having cystic fibrosis using a sweat sample as their sweat sodium chloride concentration will correspond to an electrical signal obtained throughout the testing process.

scholarly journals Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Friederike Wilbert ◽  
Sarah C. Grünert ◽  
Andrea Heinzmann ◽  
Sebastian F. N. Bode
Keyword(s):  
Cystic Fibrosis ◽  
Systemic Disease ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Upper Airways ◽  
Inborn Errors ◽  
Hepatic Involvement ◽  
Number Of Patients

Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occur in a significant number of patients, although hepatomegaly is uncommon. Case presentation A 28 months old boy was presented with recurrent upper airways infections, progressive lethargy and weight loss. Clinically hepatomegaly was the main presenting feature and hypoglycemia (minimum 1.4 mmol/l) was noted as were elevated transaminases. The patient did not produce enough sweat to analyze it. Infectious causes for hepatitis were excluded and a broad metabolic work-up initiated. A therapy with starch was initiated to control hypoglycemia. In further course loose stools were reported and pancreatic elastase was found to be reduced. A further sweat test yielded pathological chloride concentration and genetic testing confirmed the diagnosis of cystic fibrosis. Conclusions Cystic fibrosis is a systemic disease and less common presentations need to be considered. Even in the age of CF-newborn screening in many countries CF needs to be ruled out in typical and atypical clinical presentations and diagnostics need to be repeated if inconclusive.

Dedicated low-cost spectrophotometer to assist in cystic fibrosis diagnosis

2021 ◽  
Author(s):  
Daniel Saverio Spozito ◽  
Francisco Ubaldo Vieira Junior ◽  
Eduardo Tavares Costa
Keyword(s):  
Cystic Fibrosis ◽  
Low Cost

Letter to the Editor

PEDIATRICS ◽  
1969 ◽  
Vol 43 (5) ◽  
pp. 905-906
Author(s):  
Aubrey Milunsky
Keyword(s):  
Cystic Fibrosis ◽  
Bone Marrow ◽  
Clinical Presentation ◽  
Pancreatic Insufficiency ◽  
Chloride Concentration ◽  
Letter To The Editor ◽  
Patient Reported ◽  
Sweat Sample ◽  
Chloride Concentrations

The patient reported in the foregoing letter is of particular interest in view of the recent observations on patients with tnisomy 21 and cystic fibrosis. The multiple possibilities that could explain the clinical presentation have no doubt been considered by the authors. However, the description of "hypoplastic thrombocytopenia" and later pancytopenia in this patient, associated with pancreatic insufficiency, leads to the serious consideration of Shwachman's syndrome (pancreatic insufficiency and bone marrow dysfunction). The wide discrepancy between the sodium and chloride concentrations in the sweat reported in their letter indicates that evaporation of water may have occurred from the sweat sample, leading to an apparently higher sodium and chloride concentration.

scholarly journals Technical Note: Evaluation of a low-cost evaporation protection method for portable water samplers

2020 ◽  
Author(s):  
Jana von Freyberg ◽  
Julia L. A. Knapp ◽  
Andrea Rücker ◽  
Bjørn Studer ◽  
James W. Kirchner
Keyword(s):  
Water Samples ◽  
Low Cost ◽  
Isotopic Fractionation ◽  
Field Tests ◽  
Isotopic Signature ◽  
Technical Note ◽  
Stable Water Isotopes ◽  
Sample Collection ◽  
Protection Method ◽  
Cost Efficient

Abstract. Automated field sampling of streamwater or precipitation for subsequent analysis of stable water isotopes (2H and 18O) is often conducted with off-the-shelf automated samplers. However, water samples stored in the field for days and weeks in open bottles inside autosamplers undergo isotopic fractionation and vapor mixing, thus altering their isotopic signature. We therefore designed an evaporation protection method which modifies autosampler bottles using a syringe housing and silicone tube, and tested whether this method reduces evaporative fractionation and vapor mixing in water samples stored for up to 24 days in ISCO autosamplers (Teledyne ISCO., Lincoln, US). Laboratory and field tests under different temperature and humidity conditions showed that water samples in bottles with evaporation protection were far less altered by evaporative fractionation and vapor mixing than samples in conventional open bottles. Our design is a cost-efficient approach to upgrade the 1-litre sample bottles of ISCO 6712 Full-size Portable Samplers, allowing secure water sample collection in warm and dry environments. Our design can be readily adapted (e.g., by using a different syringe size) to fit the bottles used by many other field autosamplers.

scholarly journals Rapid Mass Spectrometric Diagnosis of Bladder Cancer via Urine Carbonyl Metabolic Fingerprints

2021 ◽  
Author(s):  
Zongxiu Nie ◽  
Yuze Li ◽  
Lixia Jiang ◽  
Zhenpeng Wang ◽  
Xiaohua Cao ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Point Of Care ◽  
Low Cost ◽  
Mass Spectrometric ◽  
Detection Sensitivity ◽  
Ionization Mass ◽  
Non Invasive ◽  
Diagnosis Method ◽  
Rapid Mass ◽  
Potential Biomarkers

Abstract The diagnosis of bladder cancer (BC) is currently based on cystoscopy, which is invasive and expensive. Here, we described a non-invasive, low-cost BC diagnosis method based on a desorption, separation, and ionization mass spectrometry platform (DSI-MS) that adopts N, N- Dimethylethylenediamine (DMED) as a differential labeling reagent. The DSI-MS platform avoids the interferences from intra- and/or inter-samples, while the DMED increases detection sensitivity and distinguishes carboxyl, aldehyde, and ketone groups from untreated samples. Carbonyl metabolic fingerprints of urine from 28 BC patients and 38 controls were portrayed and significant differences of some potential biomarkers were observed. The mechanisms of the changes have been discussed. Logistic regression (LR) was applied to discriminate BC from controls and an accuracy of 87% was achieved. We believe this patient-friendly method provides a hopeful approach for BC rapid point-of-care diagnostic.

Test for the Concentration of Electrolytes in Cystic Fibrosis of the Pancreas Utilizing Pilocarpine by Iontophoresis, by Lewis E. Gibson and Robert E. Cooke,Pediatrics; 1959;24:545–549

PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_1) ◽  
pp. 230-231
Author(s):  
Victor Chernick
Keyword(s):  
Cystic Fibrosis ◽  
Filter Paper ◽  
Direct Injection ◽  
Heat Stroke ◽  
Chloride Concentration ◽  
Hot Water ◽  
Sweat Test ◽  
High Concentration ◽  
Sweat Chloride ◽  
Plastic Bag

Aim. To develop a method for stimulating sweating that is rapid, painless, and avoids the risk of heat stress. Background. Since the discovery that there is a high concentration of sodium and chloride in the sweat of patients with cystic fibrosis of the pancreas in 1953, the sweat test has been performed by placing the patient's body in a plastic bag with or without hot water bottles to stimulate sweating. This method is unsatisfactory because of complications such as hyperpyrexia and heat stroke. Direct injection of a cholinergic agent intradermally is painful and therefore not practical. Methods. A rheostat with a milliampere meter was constructed at a cost of ∼$7 that allowed the iontophoresis of pilocarpine into the skin using negative and positive (2-cm diameter) electrocardiography electrodes. The positive electrode was placed on the flexor surface of the arm over a filter paper soaked in 0.2 mL of 0.2% pilocarpine nitrate. Current (0.2 mA) was applied for 5 minutes and then sweat was collected onto a preweighed filter paper for 30 minutes. Sweat chloride was determined by a polarographic method. Sweat tests were performed on 25 patients with cystic fibrosis (CF), 17 asymptomatic relatives and 27 control patients. Patients with CF had sweat chloride concentration >80 mEq/L; relatives, 32.5 mEq/L (highest 57 mEq/L); and control subjects, 21.1 mEq/L (highest 60 mEq/L). Conclusions. The iontophoresis of pilocarpine into the skin is a rapid, painless, safe, and reliable method for stimulating sweating and facilitating the determination of sweat chloride concentration.

Negative Effects of Oral Fatty Acid Supplementation on Sweat Chloride in Cystic Fibrosis

PEDIATRICS ◽  
1979 ◽  
Vol 64 (1) ◽  
pp. 50-52
Author(s):  
John D. Lloyd-Still ◽  
Stuart H. Simon ◽  
Hans U. Wessel ◽  
Lewis E. Gibson
Keyword(s):  
Cystic Fibrosis ◽  
Fatty Acid ◽  
Sweat Rate ◽  
Chloride Concentration ◽  
Control Group ◽  
Safflower Oil ◽  
Negative Effects ◽  
Fatty Acid Supplementation ◽  
Acid Supplementation ◽  
Sweat Chloride

Essential fatty acid supplementation with oral safflower oil (1 gm/kg/day) to 11 cystic fibrosis patients (aged 6 months to 14 years) for one year produced no significant change in sweat chloride concentration (mEq/liter) or sweat rate (gm/min/m2). Addition of vitamin E (10 mg/kg/day) to the safflower oil had no effect on sweat chloride concentration or rate compared to placebo. No clinical improvement could be detected compared to a control group. These results do not support previous reports of the effects of fatty acid supplementation on sweat electrolyte concentrations in cystic fibrosis.

Quantification of chloride in sweat with the Cystic Fibrosis Indicator System

1990 ◽  
Vol 36 (1) ◽  
pp. 96-98 ◽  
Author(s):  
W J Warwick ◽  
L G Hansen ◽  
M E Werness
Keyword(s):  
Cystic Fibrosis ◽  
High Resolution ◽  
Chloride Concentration ◽  
Indicator System ◽  
Sweat Test ◽  
The Relationship ◽  
Estimation Program ◽  
Ibm Pc

Abstract We examined the relation between chloride concentration and the area of complexed chloride of Medtronic's Cystic Fibrosis Indicator System, using a high-resolution x-y coordinated digitizer to measure the circumference of the chloride precipitation ring. These digitized points were entered directly into an IBM PC computer, where the area of the chloride precipitation was calculated with use of a repetitive rectangular estimation program. Using these data, we determined the relationship between the area of chloride precipitation and the chloride concentration of the standard NaCl solutions. When the area of the ring of chloride precipitation in the system's patch is measured immediately after the sweat test is completed, the concentration of chloride in the sweat can be calculated with a reproducibility equal to that of the Gibson-Cooke sweat test.

scholarly journals Extracellular Vesicles and Epigenetic Modifications Are Hallmarks of Melanoma Progression

2019 ◽  
Vol 21 (1) ◽  
pp. 52 ◽  
Author(s):  
Francesco Mannavola ◽  
Stella D’Oronzo ◽  
Mauro Cives ◽  
Luigia Stefania Stucci ◽  
Girolamo Ranieri ◽  
...  
Keyword(s):  
Extracellular Vesicles ◽  
Immune Regulation ◽  
Potential Role ◽  
Metastatic Potential ◽  
Epigenetic Modifications ◽  
Therapeutic Application ◽  
Disease Evolution ◽  
Melanoma Progression ◽  
Non Coding Rnas ◽  
Potential Biomarkers

Cutaneous melanoma shows a high metastatic potential based on its ability to overcome the immune system’s control. The mechanisms activated for these functions vary extremely and are also represented by the production of a number of extracellular vesicles including exosomes. Other vesicles showing a potential role in the melanoma progression include oncosomes and melanosomes and the majority of them mediate tumor processes including angiogenesis, immune regulation, and modifications of the micro-environment. Moreover, a number of epigenetic modifications have been described in melanoma and abundant production of altered microRNAs (mi-RNAs), non-coding RNAs, histones, and abnormal DNA methylation have been associated with different phases of melanoma progression. In addition, exosomes, miRNAs, and other molecular factors have been used as potential biomarkers reflecting disease evolution while others have been suggested to be potential druggable molecules for therapeutic application.

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