Association of diet quality and weight increase in adult heart transplant recipients.

BACKGROUND: Understanding the quality of the diet of heart transplant recipients (HTRs) is essential to developing effective dietary interventions for weight control, but relevant evidence is scarce. We investigated diet quality and its association with post-transplant increase in weight adjusted for height (body mass index [BMI]) in Australian HTRs. METHODS: We recruited adult HTRs from Queensland's thoracic transplant clinic, 2020-2021. Study participants completed a 3-day food diary using a smart-phone app. Socio-demographic information was collected by self-administered questionnaire, and height, serial weight and clinical information were obtained from medical records. We calculated the Dietary Approaches to Stop Hypertension (DASH) index based on nine food groups and nutrients (index of 90 indicates highest possible quality), and any changes in BMI (≤ 0 kg m-2 or >0 kg m-2) post-transplantation. Median DASH index values were assessed in relation to sex and BMI change using Mann-Whitney U test. RESULTS: Among 49 consented HTRs, 25 (51%) completed the food diary (median age 48 years, 52% females). Median BMI at enrolment was 27.2 kg m-2; median BMI change since transplant was +3.7 kg m-2. Fruit, vegetable, and whole grain intakes were generally lower than recommended, giving a low overall median DASH index of 30 with no sex differences. HTRs for which the BMI increased post-transplant had significantly lower median DASH indices than those whose BMI did not increase (30 vs. 45, p = 0.013). CONCLUSIONS: The diet quality of HTRs appears suboptimal overall, with fruit and vegetable intakes especially low. HTRs whose BMI increased post-transplant had substantially lower quality diets than HTRs whose BMI did not increase.

Study profile: the Genetics of Glaucoma Study.

PURPOSE: Glaucoma, a major cause of irreversible blindness, is a highly heritable human disease. Currently, the majority of the risk genes for glaucoma are unknown. We established the Genetics of Glaucoma Study (GOGS) to identify disease genes and improve genetic prediction of glaucoma risk and response to treatment. PARTICIPANTS: More than 5700 participants with glaucoma or a family history of glaucoma were recruited through a media campaign and the Australian Government healthcare service provider, Services Australia, making GOGS one of the largest genetic studies of glaucoma globally. The mean age of the participants was 65.30±9.36 years, and 62% were female. Participants completed a questionnaire obtaining information about their glaucoma-related medical history such as family history, glaucoma status and subtypes, surgical procedures, and prescriptions. The questionnaire also obtained information about other eye and systemic diseases. Approximately 80% of the participants provided a DNA sample and ~70% consented to data linkage to their Australian Government Medicare and Pharmaceutical Benefits Scheme schedules. FINDINGS TO DATE: 4336 GOGS participants reported that an optometrist or ophthalmologist has diagnosed them with glaucoma and 3639 participants reported having a family history of glaucoma. The vast majority of the participants (N=4393) had used at least one glaucoma-related medication; latanoprost was the most commonly prescribed drug (54% of the participants who had a glaucoma prescription). A subset of the participants reported a surgical treatment for glaucoma including a laser surgery in 2008 participants and a non-laser operation in 803 participants. Several comorbid eye and systemic diseases were also observed; the most common reports were ocular hypertension (53% of the participants), cataract (48%), hypertension (40%), nearsightedness (31%), astigmatism (22%), farsightedness (16%), diabetes (12%), sleep apnoea (11%) and migraines (10%). FUTURE PLANS: GOGS will contribute to the global gene-mapping efforts as one of the largest genetic studies for glaucoma. We will also use GOGS to develop or validate genetic risk prediction models to stratify glaucoma risk, particularly in individuals with a family history of glaucoma, and to predict clinical outcomes (eg, which medication works better for an individual and whether glaucoma surgery is required). GOGS will also help us answer various research questions about genetic overlap and causal relationships between glaucoma and its comorbidities.

Multimodal Transplant-clinic-based Skin Cancer Prevention Education for Organ Transplant Recipients: Feasibility Study.

We studied the feasibility of transplant-clinic staff routinely providing primary prevention advice to lung transplant recipients at high risk of skin cancer. Methods: Patients enrolled by a transplant-clinic study nurse completed baseline questionnaires and received sun-safety brochures. For the 12-mo intervention, transplant physicians were alerted to provide standard sun-protection advice (use of hat, long sleeves, and sunscreen outdoors) by sun-advice prompt cards attached to participants' medical charts at each clinic visit. Patients indicated receiving advice from their physician and from study personnel via an exit-card postclinic, and at final study clinics, they also reported their sun behaviors by questionnaire. Feasibility of the intervention was measured by patients' and clinic staff's study engagement; effectiveness was assessed by calculating odds ratios (ORs) for improved sun protection, using generalized estimating equations. Results: Of 151 patients invited, 134 consented (89%), and 106 (79 %) (63% male, median age 56 y, 93% of European descent) completed the study. Odds of receiving sun advice from transplant physicians and study nurses rose after the intervention compared with baseline (ORs, 1.67; 95% confidence interval [CI], 0.96-2.96 and 3.56; 95% CI, 1.38-9.14, respectively). After 12 mo of regular transplant-clinic advice, odds of sunburn decreased (OR, 0.59; 95% CI, 0.13-2.60), and odds of applying sunscreen (OR, 1.93; 95% CI, 1.20-3.09) almost doubled. Conclusions: Encouragement of primary prevention of skin cancer among organ transplant recipients by physicians and nurses during routine transplant-clinic visits is feasible and appears to be effective.

Long-term changes in body weight and serum cholesterol in heart transplant recipients.

INTRODUCTION: Long-term changes in weight and blood lipids beyond 12 months after heart transplantation are largely unknown. We quantified changes in weight, body mass index (BMI), blood cholesterol, and triglycerides in heart transplant recipients (HTRs) during the 36 months after transplantation, and we assessed the influence of statin therapy on these outcomes. METHODS: Retrospective cohort study of adult HTRs, transplanted 1990-2017, in Queensland, Australia. From each patient's medical charts, we extracted weight, total cholesterol, triglycerides, and statin therapy at four time-points: time of transplant (baseline), and 12-, 24-, 36-month post-transplant. Changes in weight and blood lipids were assessed according to baseline BMI. RESULTS: Among 316 HTRs, 236 (median age 52 years, 83% males) with available information were included. During the 36 months post-transplant, all patients gained weight (83.5-90.5 kg; p < .001), especially those with baseline BMI < 25.0 km/m2 (67.9-76.2 kg; p < .001). Mean blood cholesterol (4.60-4.90 mmol/L; p = .004) and mean blood triglycerides (1.79-2.18 mmol/L; p = .006) also increased significantly in all patients, particularly in those with baseline BMI ≥ 25.0 km/m2 but the differences were not significant (total cholesterol 4.42-5.13 mmol/L; triglycerides 1.76-2.47 mmol/L). Total cholesterol was highest in patients not taking statins, and levels differed significantly (p = .010) according to statin dosing changes during the 36 months post-transplant. CONCLUSION: Patients demonstrate significant rises in weight and blood lipids in the 36 months after heart transplantation.

Changes in body weight and serum cholesterol after heart transplant in relation to ventricular assist device implantation.

Weight gain is common after implantation of a ventricular assist device (VAD) prior to heart transplantation, but post-transplant changes in weight and also in blood lipids in those with VAD is virtually unknown. This study aimed to determine the influence of pre-transplant VAD implantation on body weight, blood cholesterol and triglyceride levels in Australian adult heart transplant recipients (HTRs), 1990-2017, from time of transplantation to 36 months post-transplantation. Information on VAD implantation, weight and blood lipids was collected for HTRs from medical records. Changes in weight and blood lipids from post-transplant to 12-, 24 and 36 months later, were assessed by VAD status using linear mixed-effects models. Of 236 heart transplant recipients, 48 (20%) had VAD implants. HTRs irrespective of VAD status, tended to increase their mean weight (p < 0.001) over 36 months (VAD implant: 76.9-84.4 kg; no VAD: 81.3-88.2 kg). Patients with VAD tended to have lower mean blood lipids but experienced increases similar to those with no VAD, from baseline to 36 months (cholesterol: VAD: 4.24-4.66 mmol/l; no VAD: 4.73-4.88 mmol/l; p = 0.05; triglycerides: VAD 1.59-1.63 mmol/l; no VAD 1.85-2.22 mmol/l; p = 0.09). We conclude that HTRs in general experience weight gain and lipid increases in the first 36 months after transplantation, regardless of prior VAD implantation.

Glucose-6-phosphate dehydrogenase deficiency presenting with rhabdomyolysis in a patient with coronavirus disease 2019 pneumonia: a case report.

BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency is a rarely recognized predisposing factor for rhabdomyolysis. Rhabdomyolysis with coronavirus disease 2019 has been increasingly seen during the pandemic. We report the uncommon occurrence of coronavirus disease 2019 pneumonia, severe rhabdomyolysis, and acute renal failure in the setting of glucose-6-phosphate dehydrogenase deficiency. CASE PRESENTATION: A 19-year-old African American male presented with myalgias, diaphoresis, and dark urine. Testing for severe acute respiratory syndrome coronavirus 2 was positive. He had severe rhabdomyolysis with creatine kinase levels up to 346,695 U/L. He was oliguric and eventually required hemodialysis. Progressive hypoxemia, methemoglobinemia, and hemolytic anemia occurred following one dose of rasburicase for hyperuricemia. Glucose-6-phosphate dehydrogenase deficiency was diagnosed. Full recovery followed a single volume exchange transfusion and simple packed red blood cell transfusions. CONCLUSIONS: Glucose-6-phosphate dehydrogenase deficiency may predispose individuals to rhabdomyolysis due to severe acute respiratory syndrome coronavirus 2, presumably due to altered host responses to viral oxidative stress. Early screening for glucose-6-phosphate dehydrogenase deficiency can be useful for management of patients with rhabdomyolysis.

Weight Gain After Heart Transplantation in Adults: Systematic Review and Meta-Analysis.

Gain in weight is common after heart transplantation but the magnitude of usual weight gain and whether this varies by country is unknown. We systematically reviewed all relevant studies to quantify weight change among heart transplant recipients (HTRs) in the years after transplantation and assess variation with geographic location. We searched PubMed, Cumulative Index to Nursing and Allied Health Literature, and Excerpta Medica Database databases to September 2020. Eligible studies reported adult HTRs' mean/median weight and/or body mass index (BMI) up to time of transplantation (baseline) and posttransplantation in any language. Weighted mean differences (WMDs) (95% confidence intervals [CIs]) of weight/BMI from baseline to posttransplantation were estimated using a random-effects model. Ten studies met the inclusion criteria. Pooled analysis showed weight gain of 7.1 kg (95% CI, 4.4-9.8 kg) in HTRs 12 months posttransplant, with corresponding BMI increase of 1.69 kg/m 2 (95% CI, 0.83-2.55 kg/m 2 ). Greatest weight gain at 12 months posttransplant occurred in US HTRs (WMD weight 10.42 kg, BMI 3.25 kg/m 2 ) and least, in European HTRs (WMD weight 3.10 kg, BMI 0.78 kg/m 2 ). In conclusion, HTRs gain substantial weight in the years after transplantation, but varying widely by geographic location.

Dysfunction in nonsense-mediated decay, protein homeostasis, mitochondrial function, and brain connectivity in ALS-FUS mice with cognitive deficits.

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of the same disease spectrum of adult-onset neurodegenerative diseases that affect the motor and cognitive functions, respectively. Multiple common genetic loci such as fused in sarcoma (FUS) have been identified to play a role in ALS and FTD etiology. Current studies indicate that FUS mutations incur gain-of-toxic functions to drive ALS pathogenesis. However, how the disease-linked mutations of FUS affect cognition remains elusive. Using a mouse model expressing an ALS-linked human FUS mutation (R514G-FUS) that mimics endogenous expression patterns, we found that FUS proteins showed an age-dependent accumulation of FUS proteins despite the downregulation of mouse FUS mRNA by the R514G-FUS protein during aging. Furthermore, these mice developed cognitive deficits accompanied by a reduction in spine density and long-term potentiation (LTP) within the hippocampus. At the physiological expression level, mutant FUS is distributed in the nucleus and cytosol without apparent FUS aggregates or nuclear envelope defects. Unbiased transcriptomic analysis revealed a deregulation of genes that cluster in pathways involved in nonsense-mediated decay, protein homeostasis, and mitochondrial functions. Furthermore, the use of in vivo functional imaging demonstrated widespread reduction in cortical volumes but enhanced functional connectivity between hippocampus, basal ganglia and neocortex in R514G-FUS mice. Hence, our findings suggest that disease-linked mutation in FUS may lead to changes in proteostasis and mitochondrial dysfunction that in turn affect brain structure and connectivity resulting in cognitive deficits.

Children who engaged in interpersonal problematic sexual behaviors.

BACKGROUND: Over one-third of inappropriate sexual contact experienced by children is initiated by other children. Many studies examined child initiators (CIs) of interpersonal problematic sexual behaviors (IPSBs). This study uniquely links CI information with types of sexual contact as described by children they engaged in IPSBs. OBJECTIVE: Describe CIs' characteristics and types of sexual acts they initiated. PARTICIPANTS/SETTING: Medical charts of CIs and children they engaged in IPSBs. Examinations occurred between 2002 and 2013. METHODS: Retrospective chart review. RESULTS: Most CIs were male (83%) and related to the child they engaged in IPSBs (75%); mean age was 10 years (range 4-17); 58% reported viewing sexually explicit media; 47% experienced sexual abuse. Most CIs (68%) engaged in multiple types of IPSBs. Children who experienced IPSBs initiated by males reported engagement in greater numbers of invasive acts (t(216) = 2.03, p = .043). Older CIs were more likely than younger CIs to report viewing sexually explicit media (χ2(1) = 7.81, p = .007) and those who did were more likely to initiate more invasive acts (t(169) = 2.52, p = .013) compared to CIs who did not. CONCLUSIONS: In this study, most CIs were young and experienced multiple adverse events; the most common types of IPSBs were invasive; and over half the CIs had been exposed to sexually explicit media, which was associated with initiating invasive sexual acts. These findings suggest aiming prevention efforts at young children to help them manage exposure to sexually explicit media and redress victimization experiences.