Abstract
Background
Congenital disorders of glycosylation (CDG) are rare genetically inherited defects leading to enzyme deficiency or malfunction in the glycosylation pathway. Normal glycosylation ...is essential to the development of normal cardiac anatomy and function. Congenital disorders of glycosylation–related cardiomyopathy are often the first manifestation detected in early life and may lead to sudden cardiac death. Approximately one-fifth of CDG types are related to cardiac diseases that include cardiomyopathy, rhythm disturbances, pericardial effusions, and structural heart disease.
Case summary
We report a rare case of a 26-year-old lady with CDG-1 who presented with acute-onset dyspnoea. She had respiratory tract symptoms for the past 2 weeks. With the relevant clinical and biochemical findings, including supportive findings on echocardiogram and cardiac magnetic resonance imaging, we have managed to arrive at a diagnosis of severe pneumonia leading to acute decompensated heart failure, as well as the discovery of an underlying CDG-associated dilated cardiomyopathy (DCM) and acute myocarditis. Anti-failure medications and i.v. methylprednisolone were commenced, and she showed gradual clinical improvement with an increase of her left ventricular function. She was discharged home well with anti-failure therapy, prednisolone, and a follow-up echocardiogram with further review in the heart failure clinic.
Discussion
In conclusion, this case report highlights the need for accurate diagnosis and prompt management of CDG-associated DCM, leading to a successful recovery and discharge from hospital care. With this, we hope to add to the increasing number of reported cases of CDG-related cardiac disease in the medical literature to emphasize the importance of screening and follow-up for any underlying cardiac diseases in patients with CDG.
Explains Māori values concerning the environment and how key values embodied in the Treaty should form the basis of our constitution to ensure the future of our natural environment. Source: National ...Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of Internal Affairs for re-use under the Creative Commons Attribution 3.0 New Zealand Licence.
People with anorexia nervosa (AN) are known to have difficulties with social and emotional functioning, as indicated by their symptom presentation and also performance on tests of emotion perception. ...This study explores the level of empathy in AN, in terms of resonant experience of emotion in other people using a self-report measure.
Twenty-eight women with acute AN were compared to 25 women who have recovered from AN, and a further 54 healthy control (HC) participants. They were assessed using a questionnaire to measure reported levels of empathy, emotional recognition, social conformity, and antisocial behaviour.
The acute AN group reported lower levels of empathy than the recovered AN group and HC, but they also reported less antisocial behaviour. No differences were found in emotional recognition or social conformity.
These results suggest that emotional empathy is reduced during acute AN. Lower levels of antisocial behaviour may reflect a contrasting desire of people with AN to minimise presentation of antisocial behaviour in the acute state.
Celotno besedilo
Dostopno za:
BFBNIB, DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Purpose of review
Precision medicine is an evolving field stemming from Oncology research, with an increasingly important role in autoimmune diseases. The heterogeneity, both of clinical ...presentations of systemic sclerosis and differing response to treatment, emphasises the importance of developing means of patient stratification to ensure that the correct patients are managed with the most appropriate treatments at a disease duration when this will have meaningful impact on disease course and resolution. This review aims to discuss the different means explored so far in stratifying patients with systemic sclerosis. We highlight recent clinical trials which have applied stratification techniques in order to provide a form of precision medicine in the management of systemic sclerosis.
Recent findings
Advances have focused on utilising gene expression techniques on whole skin biopsies or fibroblasts to understand which groups of patients are more likely to respond to which treatments. This technique has been used successfully to understand the effect of tocilizumab, abatacept, and fresolimumab on systemic sclerosis, and helped identify those that are more likely to respond to treatment.
Summary
Utilising high output platforms to stratify patients for targeted treatment is still in its infancy but has huge potential for ensuring the patients most likely to respond to a specific therapy are put forward to trials. It has already been shown to be successful in those with a high IL-6 profile and will most likely prove hugely informative in the future.
Although light is the principal zeitgeber to the mammalian circadian system, other cues can be shown to have a potent resetting effect on the clock of both adult and perinatal mammals. Nonphotic ...entrainment may have both biological and therapeutic significance. This review focuses on the effect of behavioral arousal as a nonphotic cue and the neurochemical circuitry that mediates arousal-induced entrainment in the adult rodent. In addition, it considers the role of nonphotic entrainment of the developing circadian system in perinatal life prior to the establishment of retinal input to the clock.
Abstract Background Water-associated bacterial infections cause a wide spectrum of disease. Although many of these infections are typically due to human host commensal Staphylococcal or Streptococcal ...spp, water exposure can result in infections with environmental gram negatives such as Vibrio spp, Aeromonas spp, Chromobacterium violaceum, and Shewanella spp (collectively VACS). Methods We performed a retrospective analysis of the epidemiology, clinical presentation, and outcomes of deep and superficial infections associated with VACS organisms in our health service between 1 January 2015 and 31 December 2023. Results We identified 317 patient episodes of infection with VACS organisms over this period. Of these, Aeromonas spp (63%) was the most common, followed by Vibrio spp (19%), Shewanella spp (13%), and C violaceum (5%). The majority were isolated from males (74.4%) and involved the lower limb (67.5%). Mild infections were more common than severe presentations, with only 15 (4.7%) admissions to the intensive care unit and 8 (2.5%) deaths. Colonization occurred in 6.9% of patients, in contrast to the perceived severity of some of these bacteria. Copathogens were common and included Staphylococcus aureus (48%) and enteric bacteria (57%). The majority of patients (60%) had no documented water exposure. Initial empiric antimicrobial therapy presumptively covered the susceptibilities of the isolated organisms in 47.3% of patients; however, a lack of VACS-covering empirical therapy was not associated with readmission. Conclusions The isolation of a VACS organism in our setting was often not associated with documented water exposure, which has implications for empiric antimicrobial therapy. Severe disease and death were uncommon.
Four intrinsic molecular subsets (inflammatory, fibroproliferative, limited, normal-like) have previously been identified in SSc and are characterized by unique gene expression signatures and ...pathways. The intrinsic subsets have been linked to improvement with specific therapies. Here, we investigated associations between baseline demographics and intrinsic molecular subsets in a meta-analysis of published datasets.
Publicly available gene expression data from skin biopsies of 311 SSc patients measured by DNA microarray were classified into the intrinsic molecular subsets. RNA-sequencing data from 84 participants from the ASSET trial were used as a validation cohort. Baseline clinical demographics and intrinsic molecular subsets were tested for statistically significant associations.
Males were more likely to be classified in the fibroproliferative subset (P = 0.0046). SSc patients who identified as African American/Black were 2.5 times more likely to be classified as fibroproliferative compared with White/Caucasian patients (P = 0.0378). ASSET participants sera positive for anti-RNA pol I and RNA pol III autoantibodies were enriched in the inflammatory subset (P = 5.8 × 10-5, P = 9.3 × 10-5, respectively), while anti-Scl-70 was enriched in the fibroproliferative subset. Mean modified Rodnan Skin Score (mRSS) was statistically higher in the inflammatory and fibroproliferative subsets compared with normal-like (P = 0.0027). The average disease duration for inflammatory subset was less than fibroproliferative and normal-like intrinsic subsets (P = 8.8 × 10-4).
We identified multiple statistically significant differences in baseline demographics between the intrinsic subsets that may represent underlying features of disease pathogenesis (e.g. chronological stages of fibrosis) and have implications for treatments that are more likely to work in certain SSc populations.
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