Evaluation of Sweat Production by Pilocarpine Iontophoresis: A Noninvasive Screening Tool for Hypohidrosis in Ectodermal Dysplasia

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

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“…5 ). Hypoidrosis was evaluated by measuring sweat production by pilocarpine iontophoresis [Basu et al, 2013].…”

Section: Case Reportmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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“…In general, sweating plays an important role for the maintenance of body temperature during exercise or in hot environments [ 26 ]. Accordingly, patients lacking sweat glands like in anhidrotic ectodermal dysplasia or patients with impaired sweating like in GH deficiency may be at risk for developing hyperthermia as a consequence of their decreased ability to sweat [ 27 – 30 ]. Especially conditions like fever and physical activity may put these DS patients at risk for hyperthermia and electrolyte derailment.…”

Section: Discussionmentioning

confidence: 99%

Is sweat testing for cystic fibrosis feasible in patients with down syndrome?

et al. 2018

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BackgroundRecurrent airway infections are common in patients with Down’s syndrome (DS). Hence, ruling out Cystic Fibrosis (CF) in these patients is often required. In the past, the value of sweat testing – the gold standard to diagnose CF – has been questioned in DS as false positive results have been reported. However, these reports are based on measurements of sweat osmolality or sodium concentrations, not chloride concentrations. This study analyses sweat secretion rate and chloride concentration in sweat samples of patients with DS in comparison to healthy controls.MethodsWe assessed sweat samples in 16 patients with DS and 16 healthy controls regarding sweat secretion rate (SSR) and sweat chloride concentration.ResultsAll measured chloride concentrations were within the normal range. The chloride concentrations were slightly, but not significantly lower in patients with DS (15,54 mmol/l (±4,47)) compared to healthy controls (18,31 mmol/l (±10,12)). While no gender gap in chloride concentration could be found, chloride concentration increased with age in both groups.Insufficient sweat was collected in 2 females with DS (12.5% of the study group) but not in an individual of the control group. A significant lower sweat secretion rate was found in the DS group (27,6 μl/30 min (± 12,18)) compared to the control group (42,7 μl/30 min (± 21,22)). In a sub-analysis, female patients produced significantly less sweat (20,8 ± 10,6 μl/30 min) than male patients with DS (36,4 ± 7,8 μl/30 min), which accounts for the difference between patients and controls. Furthermore, while the sweating secretion rate increased with age in the control group, it did not do so in the DS group. Once again this was due to female patients with DS, who did not show a significant increase of sweat secretion rate with age.ConclusionsSweat chloride concentrations were within the normal range in patients with DS and therefore seem to be a reliable tool for testing for CF in these patients. Interestingly, we found a reduced sweat secretion rate in the DS group. Whether the last one has a functional and clinical counterpart, possibly due to a disturbed thermoregulation in DS patients, requires further investigation.

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“…Researchers have employed several methods to stimulate sweat secretion, including exercise, heat, stress, and ionic stimulation. For instance, Basu et al used ionophoresis to introduce the agonist pilocarpine, which activates muscarinic receptors to induce sweat production [122]. However, the sweat rates from pilocarpine are transient, so Simmers et al used the ionotropic agent carbachol, which could maintain sweat rates for over 24 h at a lower dose (<5.25-42 mC cm −2 ) [123].…”

Section: The Source Of Biofluidsmentioning

confidence: 99%

Revolutionizing Precision Medicine: Exploring Wearable Sensors for Therapeutic Drug Monitoring and Personalized Therapy

Liu

Xiao

et al. 2023

Biosensors

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Precision medicine, particularly therapeutic drug monitoring (TDM), is essential for optimizing drug dosage and minimizing toxicity. However, current TDM methods have limitations, including the need for skilled operators, patient discomfort, and the inability to monitor dynamic drug level changes. In recent years, wearable sensors have emerged as a promising solution for drug monitoring. These sensors offer real-time and continuous measurement of drug concentrations in biofluids, enabling personalized medicine and reducing the risk of toxicity. This review provides an overview of drugs detectable by wearable sensors and explores biosensing technologies that can enable drug monitoring in the future. It presents a comparative analysis of multiple biosensing technologies and evaluates their strengths and limitations for integration into wearable detection systems. The promising capabilities of wearable sensors for real-time and continuous drug monitoring offer revolutionary advancements in diagnostic tools, supporting personalized medicine and optimal therapeutic effects. Wearable sensors are poised to become essential components of healthcare systems, catering to the diverse needs of patients and reducing healthcare costs.

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Evaluation of Sweat Production by Pilocarpine Iontophoresis: A Noninvasive Screening Tool for Hypohidrosis in Ectodermal Dysplasia

Cited by 8 publications

References 6 publications

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel <b><i>EDA</i></b> Gene Mutation

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel <b><i>EDA</i></b> Gene Mutation

Is sweat testing for cystic fibrosis feasible in patients with down syndrome?

Revolutionizing Precision Medicine: Exploring Wearable Sensors for Therapeutic Drug Monitoring and Personalized Therapy

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