Publications by authors named "Gool J"

Article Synopsis
  • Hypocretin deficiency leads to type 1 narcolepsy, which is associated with excessive daytime sleepiness and a high prevalence of overweight and obesity in patients.
  • A study compared energy expenditure in ten males with narcolepsy to nine healthy controls using respiration chamber calorimetry and doubly labelled water.
  • Results showed no significant differences in energy expenditure or physical activity between the two groups, suggesting that weight gain in narcolepsy might be influenced by factors other than metabolism, such as dietary habits.
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  • * Researchers analyzed data from over 1500 patients and found that women reported higher sleepiness on the Epworth Sleepiness Scale compared to men, with specific age-related trends observed in different patient groups.
  • * Notably, in women with narcoleptic conditions, an increase in daytime sleepiness was linked to age, while weight gain appeared later, suggesting a complex relationship that warrants further research for targeted treatment approaches.
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  • * There's a possibility that an autoimmune process is involved, but tests for specific autoantibodies and T-cells haven't provided clear answers; other factors, like reduced hormone production in the brain, are also being considered.
  • * Currently, there is no cure for NT1, and treatment focuses on managing symptoms; however, new hypocretin receptor agonists are showing promise in clinical trials, highlighting the need for better understanding and early diagnosis to improve treatment outcomes, especially in children
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  • * Researchers reviewed medical records from 290 individuals with NT1 and 115 with NT2 or IH to analyze immunological events, such as infections and vaccinations, that occurred before the onset of hypersomnolence.
  • * Results indicate that NT1 shows a stronger association with flu infections and vaccinations, whereas NT2 and IH are linked to other viral infections; the study highlights the need for further investigation into these distinct immunological triggers.
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Objective: Narcolepsy type 1 is a primary sleep disorder caused by deficient hypocretin transmission leading to excessive daytime sleepiness and cataplexy. Opioids have been suggested to increase the number of hypocretin-producing neurons. We aimed to assess opioid use and its self-reported effect on narcolepsy type 1 symptom severity through a literature review and questionnaire study.

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The brain activation patterns related to sleep resistance remain to be discovered in health and disease. The maintenance of wakefulness test (MWT) is an objective neuropsychological assessment often used to assess an individual's ability to resist sleep. It is frequently used in narcolepsy type 1, a disorder characterized by impaired sleep-wake control and the inability to resist daytime sleep.

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Purpose: Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990-2018) and the factors associated with the delay in Europe.

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Background And Objectives: Recent studies fueled doubts as to whether all currently defined central disorders of hypersomnolence are stable entities, especially narcolepsy type 2 and idiopathic hypersomnia. New reliable biomarkers are needed, and the question arises of whether current diagnostic criteria of hypersomnolence disorders should be reassessed. The main aim of this data-driven observational study was to see whether data-driven algorithms would segregate narcolepsy type 1 and identify more reliable subgrouping of individuals without cataplexy with new clinical biomarkers.

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The thalamus is a central brain structure crucially involved in cognitive, emotional, sensory, and motor functions and is often reported to be involved in the pathophysiology of neurological and psychiatric disorders. The functional subdivision of the thalamus warrants morphological investigation on the level of individual subnuclei. In addition to volumetric measures, the investigation of other morphological features may give additional insights into thalamic morphology.

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Article Synopsis
  • There has been a global rise in narcolepsy type-1 (NT1) cases since the 2009-2010 H1N1 influenza pandemic, particularly noticeable in 2010, where incidence rates spiked by 2.54 times.
  • This increase affected both children (2.75-fold) and adults (2.43-fold), with a subsequent rise specific to children/ adolescents in 2013 (2.09-fold) linked to an immune response rather than the vaccination.
  • The findings suggest that the post-pandemic increase in NT1 may be related to both the H1N1 virus and potentially other viral factors, highlighting the need for further research into the immune mechanisms involved in narcolepsy
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Vigilance complaints often occur in people with narcolepsy type 1 and severely impair effective daytime functioning. We tested the feasibility of a three-level sustained attention to response task (SART) paradigm within a magnetic resonance imaging (MRI) environment to understand brain architecture underlying vigilance regulation in individuals with narcolepsy type 1. Twelve medication-free people with narcolepsy type 1 and 11 matched controls were included.

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Introduction: Due to a continuing increase of bacterial resistance in common uropathogens, we wanted to revisit our standards for the diagnosis and treatment of lower urinary tract infections, in the setting of urological outpatient care in a conurbation in Germany.

Patients And Methods: All subjects presenting with significant bacteriuria at our urology clinics in Mülheim, Germany, in 2011 were included. Comorbidity, bacterial species, urinary tract symptoms, and empirically prescribed antibiotics were taken from the patients' records.

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A 2016 plea for revision of the 1 mg/day upper level of folic acid intake prompted us to comprehensively review the 1945-2017 literature on folic acid hazards in subjects with low cyanocobalamin. The concept of folic acid treatment 'masking' the anemia in undiagnosed cyanocobalamin deficiency, thereby delaying the diagnosis of neuropathy, does not account for the dissociation between the deficiency's hematologic and neurologic manifestations. Possible risks of this concept were addressed by 1963-1971 FDA rulings, classifying all folic acid preparations as prescription-only drugs, delivering ≤1 mg daily.

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Narcolepsy type 1 is caused by a selective loss of hypothalamic hypocretin-producing neurons, resulting in severely disturbed sleep-wake control and cataplexy. Hypocretin-producing neurons project widely throughout the brain, influencing different neural networks. We assessed the extent of microstructural white matter organization and brain-wide structural connectivity abnormalities in a homogeneous group of twelve drug-free patients with narcolepsy type 1 and eleven matched healthy controls using diffusion tensor imaging with multimodal analysis techniques.

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Background: In many rural areas of tropical countries such as Indonesia, the prevalence of soil-transmitted helminths (STH) infections remains high. At the same time, the burden of allergic disorders in such rural areas is reported to be low and inversely associated with helminth infections. To reduce the morbidity and transmission of helminth infections, the world health organization recommends preventive treatment of school children by providing mass drug administration (MDA) with albendazole.

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With 4 mg folic acid daily, it may take 20 weeks to reach red-blood-cell folate levels between 1050 and 1340 nmol/L, optimal for reduction of the neural tube defect risk. Therefore, folic acid supplementation should be started 5-6 months before conception. The residual risk with optimal red-blood-cell folate levels is reportedly 4.

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ARNI [dual AT1 (angiotensin II type 1) receptor-neprilysin inhibition] exerts beneficial effects on blood pressure and kidney function in heart failure, compared with ARB (AT1 receptor blockade) alone. We hypothesized that ARNI improves cardiac and kidney parameters in diabetic TGR(mREN2)27 rats, an angiotensin II-dependent hypertension model. Rats were made diabetic with streptozotocin for 5 or 12 weeks.

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Urinary angiotensinogen excretion parallels albumin excretion, which is not the case for renin, while renin's precursor, prorenin, is undetectable in urine. We hypothesized that renin and prorenin, given their smaller size, are filtered through the glomerulus in larger amounts than albumin and angiotensinogen, and that differences in excretion rate are because of a difference in reabsorption in the proximal tubule. To address this, we determined the glomerular sieving coefficient of renin and prorenin and measured urinary renin/prorenin 1) after inducing prorenin in Cyp1a1-Ren2 rats and 2) in patients with Dent disease or Lowe syndrome, disorders characterized by defective proximal tubular reabsorption.

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We recently showed that a genetic polymorphism (rs878886) in the human corticotropin-releasing hormone receptor 1 (CRHR1) is associated with reduced fear-conditioned responses to a threat cue. This is a potentially important finding considering that the failure to acquire fear contingencies can leave an individual in a maladaptive state of more generalized anxiety. Consistent with that idea, the CRHR1-dependent fear acquisition deficit translated into heightened contextual anxiety when taking genetic variability within the serotonin transporter long polymorphic region (5-HTTLPR) into account.

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Background And Objectives: Alge et al. recently reported that urinary renin may be a prognostic biomarker for AKI after cardiac surgery. However, their urinary renin levels far exceeded published plasma renin levels, whereas normally, urinary renin is <10% of plasma renin.

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Aims: Intravesical instillation of oxybutynin is an accepted and effective treatment in children with neuropathic bladder-sphincter dysfunction, when oral oxybutynin results in inadequate suppression of detrusor overactivity or intolerable side effects. However, as yet no data are available on long-term use and outcome.

Methods: A patient cohort with detrusor-sphincter dyssynergia that started oral oxybutynin between 1995 and 1997 was re-evaluated 15 ± 1 years after the switch from oral to intravesical (n = 10), with urodynamic investigations, renal ultrasounds, DMSA-scintigraphy, (51)Cr-EDTA-clearance, and validated questionnaires on incontinence and quality of life.

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The (pro)renin receptor (PRR), which binds both renin and prorenin, is a newly discovered component of the renin-angiotensin system that is highly expressed in the central nervous system. The significance of brain PRRs in mediating local angiotensin II formation and regulating blood pressure remains unclear. The current study was performed to test the hypothesis that PRR-mediated, nonproteolytic activation of prorenin is the main source of angiotensin II in the brain.

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