Search results for "disorder"

Sleep quality does not mediate the negative effects of chronodisruption on body composition and metabolic syndrome in healthcare workers in Ecuador

2020

Abstract Background and aims The objective of the present work was to determine to what extent sleep quality may mediate the association between chronodisruption (CD) and metabolic syndrome (MS), and between CD and body composition (BC). Methodology Cross-sectional study which included 300 adult health workers, 150 of whom were night shift workers and thereby exposed to CD. Diagnosis of MS was made based on Adult Treatment Panel III criteria. Sleep quality was measured using the Pittsburgh Sleep Quality Index. Body mass index (BMI), fat mass percentage, and visceral fat percentage were measured as indicators of body composition (BC). Data were analyzed using logistic, linear regression and …

A study on sexual functioning in adults with attention‐deficit/hyperactivity disorder

2020

PURPOSE Sexual dysfunction has been ignored in adults with attention-deficit hyperactivity disorder (A-ADHD). This study examined sexual function in adults with ADHD compared to a healthy control group. DESIGN AND METHODS The experimental group (N = 63, mean age = 31.11 ± 4.29, females = 31) were recruited among referrals with ADHD to an outpatient A-ADHD clinic. The DIVA-2 (Diagnostic Interview for ADHD in adults) and the schedule for affective disorders and schizophrenia (SADS) were used to assess for A-ADHD and comorbid psychiatric disorders, respectively. The healthy groups (N = 66, mean age = 31.37 ± 4.30, females = 31) were demographically matched and had no psychiatric disorders base…

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

2007

Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…

Improving heartbeat perception in patients with medically unexplained symptoms reduces symptom distress.

2013

Abstract Distortions in interoceptive accuracy have been linked to somatoform disorders. In line with cognitive theories of symptom formation in somatoform disorders, decreases in interoceptive accuracy have recently been observed to co-occur with more severe symptom reports. The current study tested the hypothesis that experimentally increasing interoceptive accuracy should decrease symptom severity in somatoform disorders. Twenty-nine patients with somatoform disorders were instructed in a newly developed heartbeat perception training procedure. Heartbeat perception, as a proxy for interoceptive accuracy, was assessed with a mental tracking task. Although there were no significant differe…

Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.

2013

Acyclovir treatment in 2 patients with benign trigeminal sensory neuropathy

2001

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

2010

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.

Homicide as a Source of Posttraumatic Stress?: A Meta‐Analysis of the Prevalence of Posttraumatic Stress Disorder After Committing Homicide

2020

There is a growing body of literature on the diagnosis of posttraumatic stress disorder (PTSD) after committing homicide that has examined the prevalence of this phenomenon among individuals who have been convicted, but these studies considerably vary. The present study was the first meta-analysis to synthesize scientific evidence regarding the prevalence of offense-related PTSD among convicted killers. A total of 691 articles were identified through an initial screening process, and the final analysis included 11 studies that met the analysis criteria. We examined the prevalence of PTSD after committing homicide and explored how these rates varied by sample type, offender type, diagnosis t…

Interaction of hyperalgesia and sensory loss in complex regional pain syndrome type I (CRPS I).

2008

Background: Sensory abnormalities are a key feature of Complex Regional Pain Syndrome (CRPS). In order to characterise these changes in patients suffering from acute or chronic CRPS I, we used Quantitative Sensory Testing (QST) in comparison to an age and gender matched control group. Methods: 61 patients presenting with CRPS I of the upper extremity and 56 healthy subjects were prospectively assessed using QST. The patients’ warm and cold detection thresholds (WDT; CDT), the heat and cold pain thresholds (HPT; CPT) and the occurrence of paradoxical heat sensation (PHS) were observed. Results: In acute CRPS I, patients showed warm and cold hyperalgesia, indicated by significant changes in H…

Roles of capsaicin-insensitive nociceptors in cutaneous pain and secondary hyperalgesia.

2001

Polymodal nociceptors respond to mechanical, thermal and chemical stimuli. Whereas sensitivities to heat and to the irritant substance capsaicin have recently been linked via the properties of the vanilloid receptor type 1 receptor ion channel, sensitivity to noxious mechanical stimuli such as the pinpricks used in clinical neurology seems to be unrelated. We investigated the peripheral neural basis of pinprick pain using quantitative psychophysical techniques combined with selective conduction block by nerve compression and selective desensitization by topical capsaicin treatment. Complete A-fibre block by compression of the superficial radial nerve (criterion: loss of first pain sensation…