Comparison of Electrode Configurations for Impedance Plethysmography Based Heart Rate Estimation at the Forearm

Electrical impedance plethysmography (EIP) is a cost effective and power efficient physiological measurement method that could potentially be applied for measuring pulse waves along limbs in ambulatory conditions. The pulse wave information could be utilized to determine the heart rate or other relevant parameters such as heart rate variability or cardiac rhythm. We compared three electrode configurations for EIP at the forearm, with the focus on assessing its utility in a wearable device. The evaluation included EIP measurements with ten healthy participants using adhesive gel electrodes. The evaluated electrode configurations were tetrapolar configuration along the forearm and tetrapolar and bipolar configurations around the wrist. For each electrode configuration, the measurements were performed in stationery condition and during finger movement. The collected data was evaluated for finding out differences in the signal to noise ratio (SNR) between the configurations during the two conditions. The results show that pulse wave signal with adequate SNR for heart rate estimation is obtained from the wrist area while stationary and mostly also during the presence of mild movement. There was no significant difference in the data quality between wrist area and conventional configuration along the limb.acceptedVersionPeer reviewe

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young

Diabetes is a common disorder with a heterogeneous clinical presentation and an enormous burden on health care worldwide. About 1-6% of patients with diabetes suffer from maturity-onset diabetes of the young (MODY), the most common form of monogenic diabetes with autosomal dominant inheritance. MODY is genetically and clinically heterogeneous and caused by genetic variations in pancreatic beta-cell development and insulin secretion. We report here new findings from targeted next-generation sequencing (NGS) of 13 MODY-related genes. A sample of 22 unrelated pediatric patients with MODY and 13 unrelated healthy controls were recruited from a Turkish population. Targeted NGS was performed with Miseq 4000 (Illumina) to identify genetic variations in 13 MODY-related genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, and KCNJ11. The NGS data were analyzed adhering to the Genome Analysis ToolKit (GATK) best practices pipeline, and variant filtering and annotation were performed. In the patient sample, we identified 43 MODY-specific genetic variations that were not present in the control group, including 11 missense mutations and 4 synonymous mutations. Importantly, and to the best of our knowledge, the missense mutations NEUROD1 p.D202E, KFL11 p.R461Q, BLK p.G248R, and KCNJ11 p.S385F were first associated with MODY in the present study. These findings contribute to the worldwide knowledge base on MODY and molecular correlates of clinical heterogeneity in monogenic childhood diabetes. Further comparative population genetics and functional genomics studies are called for, with an eye to discovery of novel diagnostics and personalized medicine in MODY. Because MODY is often misdiagnosed as type 1 or type 2 diabetes mellitus, advances in MODY diagnostics with NGS stand to benefit diabetes overall clinical care as well

Clinical features, diagnosis and treatment outcomes of Cushing's disease in children: A multicenter study

Objective: Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases. Design: National, multicenter and retrospective study. Patients: All centres were asked to complete a form including questions regarding initial complaints, physical examination findings, diagnostic tests, treatment modalities and follow-up data of the children with CD between December 2015 and March 2017. Measurements: Diagnostic tests of CD and tumour size. Results: Thirty-four patients (M:F = 16:18) from 15 tertiary centres were enroled. The most frequent complaint and physical examination finding were rapid weight gain, and round face with plethora, respectively. Late-night serum cortisol level was the most sensitive test for the diagnosis of hypercortisolism and morning adrenocorticotropic hormone (ACTH) level to demonstrate the pituitary origin (100% and 96.8%, respectively). Adenoma was detected on magnetic resonance imaging (MRI) in 70.5% of the patients. Transsphenoidal adenomectomy (TSA) was the most preferred treatment (78.1%). At follow-up, 6 (24%) of the patients who underwent TSA were reoperated due to recurrence or surgical failure. Conclusions: Herein, national data of the clinical experience on paediatric CD have been presented. Our findings highlight that presenting complaints may be subtle in children, the sensitivities of the diagnostic tests are very variable and require a careful interpretation, and MRI fails to detect adenoma in approximately one-third of cases. Finally, clinicians should be aware of the recurrence of the disease during the follow-up after surgery

Borderline peak plasma cortisol following synacthen stimulation - single-centre analysis of three years' data

Meeting Abstract FC13.3 from European Society for Paediatric Endocrinology (ESPE) 57th Annual Meeting, Athens, September 201