Urethral Discharge as A Novel Manifestation of Urinary Tract Infection in Children ≤24 Months Old

Background: Children with urinary tract infections (UTIs) are prone to kidney scarring if they are not treated promptly; however, ambiguous symptoms before fever onset makes the early detection of UTIs difficult. Our study aimed to identify urethral discharge as an early manifestation in children with UTI. Methods: This study enrolled 678 children younger than 24 months with paired urinalysis and culture performed between 2015 and 2021; 544 children were diagnosed with UTIs. Clinical symptoms, urinalysis, and paired urine culture results were compared. Results: Urethral discharge was observed in 5.1% of children with UTI and yielded a specificity of 92.5% for diagnosing UTI. Children with urethral discharge had a less severe UTI course, furthermore, nine of them received antibiotics before fever occurred and seven of them were free of fever during UTI course. Urethral discharge was associated with alkalotic urine and Klebsiella pneumonia infection.Conclusions: Urethral discharge is an early symptom in children with UTI; it may present before fever onset and help ensure prompt antibiotic intervention.Trial registration: Not applicable.

Spectrum of mutations and their phenotypic manifestations in children and adults with long QT syndrome

Aim. To determine the spectrum of mutations in the genes responsible for the long QT syndrome (LQTS) and study their phenotypic manifestations in patients with LQTS in different age groups.Materials and methods. The study included 35 unrelated probands with a clinical diagnosis of LQTS: 23 adults (8 men) and 12 children (9 boys). There were following clinical features: syncope — 54%, positive family history for SCD — 29%, implanted cardioverter defibrillator (ICD) — 46%. All participants underwent 12-lead electrocardiography (ECG), 24-hour Holter monitoring, genealogical analysis, echocardiography and cardiac MRI. The genetic study was performed by nextgeneration sequencing (NGS) using the MiSeq system (Illumina). The quantitative comparison of two unrelated groups was carried out using the nonparametric MannWhitney U-test. The differences were considered significant at p<0,05.Results. In the examined group of 35 probands, 23 genetic variants of pathogenicity class IV and V (hereinafter referred to as) were identified. The molecular genetic variant of the disease was verified in 66% of probands. At the same time, the detection of mutations in the group with early manifestation (children) was significantly higher: 83% (10 out of 12 children) vs 57% in adults (13 out of 23). Rare genetic variants of uncertain significance (VUS, class III pathogenicity) were detected in 4 probands (11%). In the groups of children and adults with LQT1, LQT2 and LQT3, the sex distribution deviated from the 1:1 ratio. Among children, two-thirds were boys, among adults — the same proportion was represented by women. Disease manifestation time, QTc duration and adverse events risk depended on the genetic type of LQTS, intragenic localization of mutations and sex. In children, all 4 missense mutations in the KCNQ1 gene were located in transmembrane domain, and in adults, 4 mutations were in the transmembrane domain and three — in the C-terminal domain of the protein. LQT1 in boys was characterized by early manifestation, while QTc did not exceed 500 ms and there were no adverse outcomes. Two women out of 7 adults with LQT1 with mutations in the transmembrane domain had na ICD (QTc >520 ms). All patients with LQT2 (4 children, 4 adults) had QTc >500 ms. At the same time, 2 children and 3 women had an ICD. LQT3 was diagnosed only in the children subgroup (2 boys, with QTc of 510 ms and QTc of 610 ms); one of them died suddenly despite beta-blocker therapy. Four adult patients, carriers of class III pathogenicity variants, had QTc <500 ms and delayed disease manifestation (after 30 years). Three of them had episodes of clinical death with subsequent resuscitation and implantation of cardioverter defibrillator.Conclusion. The average diagnostic efficiency of mutation identification using NGS in patients with clinically manifest LQTS was 66%. At the same time, mutations were more common in the children’s group. In genotype-positive probands, the risk of adverse outcomes correlated with sex, age and the genetic variant of disease. The greatest number of adverse outcomes was observed in carriers of mutations in both KCNH2 (LQT2) and SCN5A (LQT3) genes. Variants with unknown clinical significance were identified in 4 probands (11%), which potentially allowed to confirm the diagnosis after functional tests.

The Meaning of Denial

Could denial be a source of meaning? The meaning of denying death is clear, and most religions have been doing it for millennia. Claiming an immortal soul and thus denying the annihilation of our individual consciousness is something humans have embraced for more than 100,000 years. This chapter examines a group known as Physical Immortality, that many considered more bizarre than other belief minorities, because it promises its adherents eternal life in the same physical body they are inhabiting in this life. The author’s observations of the group and its members taught him that while the beliefs were indeed unusual, the members were ordinary and normal. It turned out to be an early manifestation of New Age activities in Israel. The group did not develop a distinct identity in its members, which was one reason for its decline. What characterized most followers was a playful openness to building up the self through support, belonging, and positivity, even if expressed in absurdities.

Erosive cheilitis as an early manifestation in DRESS syndrome

Drug reaction with eosinophilia and systemic symptoms (DRESS) is part of Severe cutaneous adverse reactions. Allopurinol, an uric acid-lowering drug, had been incriminated in several cases of Allopurinol-induced Dress syndrome.Through this paper, we present a case of Allopurinol-induced DRESS syndrome with initial oral mucosal involvement.

Identification of Ictal Tachycardia in Focal Motor- and Non-Motor Seizures by Means of a Wearable PPG Sensor

Photoplethysmography (PPG) as an additional biosignal for a seizure detector has been underutilized so far, which is possibly due to its susceptibility to motion artifacts. We investigated 62 focal seizures from 28 patients with electrocardiography-based evidence of ictal tachycardia (IT). Seizures were divided into subgroups: those without epileptic movements and those with epileptic movements not affecting and affecting the extremities. PPG-based heart rate (HR) derived from a wrist-worn device was calculated for sections with high signal quality, which were identified using spectral entropy. Overall, IT based on PPG was identified in 37 of 62 (60%) seizures (9/19, 7/8, and 21/35 in the three groups, respectively) and could be found prior to the onset of epileptic movements affecting the extremities in 14/21 seizures. In 30/37 seizures, PPG-based IT was in good temporal agreement (<10 s) with ECG-based IT, with an average delay of 5.0 s relative to EEG onset. In summary, we observed that the identification of IT by means of a wearable PPG sensor is possible not only for non-motor seizures but also in motor seizures, which is due to the early manifestation of IT in a relevant subset of focal seizures. However, both spontaneous and epileptic movements can impair PPG-based seizure detection.

Seeds of phase transition to thermoacoustic instability

Tackling the problem of emissions is at the forefront of scientific research today. While industrial engines designed to operate in stable regimes produce emissions, attempts to operate them at "greener" conditions often fail due to thermoacoustic instability. During thermoacoustic instability, hazardous high amplitude periodic oscillations lead to failure of these engines in power plants, aircrafts and rockets. Yet, identifying the onset of thermoacoustic instability remains elusive due to spatial variability and the continuous evolution of spatiotemporal patterns in the reacting flow field. Here, we show experimental evidence of early manifestation of the onset of thermoacoustic instability at certain zones. Our findings allow us to identify a critical threshold that enables us to distinguish stable operating regimes from hazardous operations. This opens new perspectives for predicting the onset of thermoacoustic instability and could be a step forward to "greener" operations. The developed methodology is applicable for other systems exhibiting phase transitions.

Type 2 Diabetes Mellitus Intersects With Pancreatic Cancer Diagnosis and Development

The relationship between type 2 diabetes mellitus (T2DM) and pancreatic cancer (PC) is complex. Diabetes is a known risk factor for PC, and new-onset diabetes (NOD) could be an early manifestation of PC that may be facilitate the early diagnosis of PC. Metformin offers a clear benefit of inhibiting PC, whereas insulin therapy may increase the risk of PC development. No evidence has shown that novel hypoglycemic drugs help or prevent PC. In this review, the effects of T2DM on PC development are summarized, and novel strategies for the prevention and treatment of T2DM and PC are discussed.

Putative Alcohol-Related Dementia as an Early Manifestation of Right Temporal Variant of Frontotemporal Dementia

Diagnosis of frontotemporal dementia is challenging in the early stages. Various psychiatric and neurological diseases are misdiagnosed as frontotemporal dementia and vice versa. Here we present a case with right temporal variant of frontotemporal dementia who presented with alcohol dependency and remarkable behavioral symptoms and was first misdiagnosed as having alcohol-related dementia. He then revealed symptoms related to right temporal variant of frontotemporal dementia, such as prosopagnosia, difficulty recognizing his housemates, loss of empathy, ritualistic behaviors, and difficulty finding and comprehending words. Retrospectively, his alcohol dependency itself was considered an early manifestation of right temporal variant of frontotemporal dementia.