Emotional Implications of Primary Familial Hyperlipoproteinemia in Childhood and Adolescence

PEDIATRICS ◽  
1980 ◽  
Vol 65 (3) ◽  
pp. 469-472
Author(s):  
Arthur P. Froese ◽  
Vera Rose ◽  
D. Marilyn Allen

To determine whether 43 patients and their 23 unaffected siblings were at increased risk for psychologic upset, 28 families of children being treated for primary familial hyperlipoproteinemia were studied. Nine fathers but no mothers had died of the disease. The families were interviewed for psychiatric assessment, and the parent(s) scored a questionnaire concerning eight behavioral factors. Male patients had significantly higher scores for impulsive hyperactive behavior than their male siblings. Fatherless female patients had the highest scores for perfectionism and the lowest scores for conduct problems and impulsive hyperactive behavior. Fatherless children scored lower for impulsive hyperactive behavior than children with fathers; fatherless male children were more anxious than fatherless female children. There were more significant differences in scores for children whose father was still alive vs those whose father had died than in scores for affected children vs unaffected siblings. Thus, the emotional impact of the premature death of an affected parent appears greater than that of having the disease. Therefore, one should be alert for changes in behavior in children with primary familial hyperlipoproteinemia when a parent dies of the disease and as the patients approach the age at which the parent died.

2020 ◽  
pp. 1-10
Author(s):  
Jules R. Dugré ◽  
Stéphane Potvin

Abstract In the past decades, there has been an overemphasis of a descriptive/behavioral approach to study conduct disorder. In an equifinal perspective, we aimed to examine the developmental multitrajectory groups of psychological features (irritability, interpersonal callousness, hyperactivity/impulsivity, and depressive–anxiety symptoms) and their associations with conduct problems. In a population-based cohort (n = 1,309 participants followed from 5 months to 17 years old), latent-class growth analysis was performed for each psychological feature to identify a two-trajectory model (from ages 6 to 12 years). Based on parameter estimates of the two-trajectory models for each of the four psychological features, a parallel process growth mixture model identified eight significant developmental patterns that were subsequently compared with typically developing children. Furthermore, we observed that while interpersonal callousness conferred an increased risk for childhood and adolescence conduct problems, its co-occurrence with hyperactivity/impulsivity, irritability, and/or depressive–anxiety symptoms heightened the general risk, but also predicted distinct subtypes of conduct problems (i.e., aggressive and rule-breaking behaviors). Thus, by studying complex developmental combinations of psychological features, we observed qualitatively distinct pathways towards conduct problems. A multitrajectory framework of psychological features should be considered as a significant step towards unveiling the multiple etiological pathways leading to conduct disorder and its substantial clinical heterogeneity.


2018 ◽  
Vol 27 (1) ◽  
pp. 57-61
Author(s):  
MMR Khan ◽  
NK Sana ◽  
PM Basak ◽  
BC Sarker ◽  
M Akhtarul Islam ◽  
...  

Background: Acute myocardial infarction is the most common form of coronary heart disease and the single most important cause of premature death worldwide. A large proportion of patients with coronary disease have metabolic syndrome, although the frequency and association of its different components are not well understood. The risk of the metabolic syndrome on AMI has not been well evaluated.Objective: The aim of this study was to assess the prevalence of the metabolic syndrome and its association with AMI patients. This study will help in awareness building in reducing AMI by early detection of metabolic syndrome.Patients and methods: This was a prospective observational study consisted of 222 persons of male AMI patients who were aged >20 years. Patients with first time AMI arriving in CCU of Rajshahi medical college during the period of 2012-2014, were included. Data were collected through interview, clinical examination, and laboratory tests. Five components of metabolic syndrome were defined according to criteria set by modified NCEP ATP III (according to ethnic variation) which had abdominal obesity (waist circumference), FBS, HDL-C, Triglyceride, and hypertension were measured within 24 hrs of AMI.Results: A total of 222 patients diagnosed with AMI were inducted in the study. The mean±SD age of the male was 53.51±11.63 years. Among the male patients highest percentage was in the age group 51-60 years (31.1%) followed by 41-50 years (27%) and then age group >60 (24.3%). Study showed that acute Myocardial infarction patients was more in age group >40 years of age. Highest percentage was observed in abdominal obesity (52.3%) followed by high blood pressure (50.0%) and FPG (46.4%). The Metabolic syndrome was 37.4 % (n=83).Conclusion: The metabolic syndrome was associated with an increased risk of AMI. The metabolic syndrome had a high prevalence in patients with AMI.TAJ 2014; 27(1): 57-61


2013 ◽  
Vol 22 (04) ◽  
pp. 271-276 ◽  
Author(s):  
P. Farahmand ◽  
J. D. Ringe

SummaryOsteoporosis in men is increasingly recognized as an important public health problem but affected patients are still under-diagnosed and -treated. As in women the diagnostic and therapeutic strategy has to be adapted to the individual case. In the practical management it is very important to detect possible causes of secondary osteoporosis, to explain the possibilities of basic therapy counteracting individual risk factors and communicate that osteoporosis is a chronic disease and adherence to a long-term treatment is crucial. In established severe osteoporosis a careful analgesic therapy is important to avoid further bone loss related to immobility. In elderly men with increased risk of falling insufficient Vitamin D supply or impaired activation of Vitamin D due to renal insufficiency must be taken into consideration. Specific medications available today for the treatment of male osteoporosis comprise among antiresorptive drugs the bis phosphonates alendronate, risedronate and zoledronic acid. Denosumab, the first biological therapy is approved for men with androgen deprivation therapy for prostate cancer. An important advantage of this potent antiresorptive drug is the increased adherence due to the comfortable application by sixmonthly subcutaneous injections. Study results from the 2-year multi-center randomized controlled ADAMO-Study will very soon allow the use of denosumab in all types of male osteoporosis. Teriparatide, the 34 N-terminal amino acid sequence of parathyroid hormone was approved for men with osteoporosis as an anabolic agent based on proven efficacy by different studies. Among drugs with other modes of action the D-hormone pro-drug alfacalcidol can be used in men alone or in combination with the advantage of pleiotropic effects on calcium absorption, parathyroids, bone and muscle. Recently also Strontium-ranelate was approved for male patients with the limitation to exclude men with clinical relevant cardiovascular risk factors. In general the possibilities to treat male osteoporosis have considerably improved during recent years. Today there is a choice of a spectrum of drugs from mild to strong potency with different modes of action on bone turnover to design strategies for individual male patients.


2020 ◽  
Author(s):  
Lydia Gabriela Speyer ◽  
Anastasia Ushakova ◽  
Hildigunnur Anna Hall ◽  
Michelle Luciano ◽  
Bonnie Auyeung ◽  
...  

Background: Most mental health difficulties have their onset during childhood and adolescence. Many children who suffer from one mental health issue also suffer from at least one comorbid disorder. Autoregressive latent trajectory models with structured residuals (ALT-SR) and multilevel graphical vector autoregression (GVAR) are recent complementary approaches that can help provide new insights into the reciprocal relationships between multiple mental health domains and advance the understanding of the development of comorbidities.Methods: This study uses ALT-SR and multilevel GVAR models to analyse the temporal, contemporaneous and between-person relationships between emotional problems, peer problems, conduct problems, hyperactivity/inattention and prosociality as measured by the parent-reported Strengths and Difficulties Questionnaire (SDQ) in 17,478 children taking part in the UK Millennium Cohort Study at ages 3, 5, 7, 11, 14 and 17 years. Results: Results from both the ALT-SR model and the multilevel GVAR model highlight that children’s strengths and difficulties in different domains of psychosocial functioning dynamically influence each other over- and within-time. The ALT-SR model highlighted that hyperactivity/inattention plays a central role in affecting other domains over developmental time while the GVAR model highlighted comparably strong bidirectional relationships between conduct problems and prosociality as well as between emotional problems and peer problems. Both models suggest that most domains are also related to each other over shorter timescales.Conclusion: This study highlights that mental health difficulties influence one another dynamically over time. As illustrated in the domains of the SDQ, these dynamic changes can be modelled using the complementary techniques of ALT-SR or GVAR models, each offering different insights into the nature of comorbidity.


Author(s):  
Pedro Montagut-Martínez ◽  
David Pérez-Cruzado ◽  
José Joaquín García-Arenas

Background: Diabetes is a serious chronic disease associated with a large number of complications and an increased risk of premature death. A dietary evaluation is of utmost importance for health promotion, disease prevention and individual treatment plans in patients with diabetes. Methods: An exhaustive search was carried out in various databases—Medline, Web of Science, Open Gray Cochrane Library and Consensus-based Standards for the selection of health status Measurement Instruments (COSMIN)—for systematic review of the measurement properties of instruments that evaluate the dietary intake of people with diabetes mellitus type 1 and/or 2 according to COSMIN standards. Results: Seven instruments were identified. There was no instrument measuring nutritional status for which all the psychometric properties were evaluated. The methodological quality for each of the psychometric properties evaluated was ‘inadequate’ or ‘doubtful’ for all instruments. The Food Frequency Questionnaire (FFQ) evaluated the most psychometric characteristics and with a better score in terms of quality of the evidence. Conclusions: Several instruments have been developed for the evaluation of dietary intake in people with diabetes. Evaluation of this construct is very useful, both in clinical practice and in research, requiring new knowledge in this area. The FFQ is the best instrument available to assess dietary intake in people with diabetes.


2021 ◽  
Vol 15 (3) ◽  
pp. 155798832110294
Author(s):  
Zhen-Chun Lv ◽  
Fei Li ◽  
Lan Wang ◽  
Qin-Hua Zhao ◽  
Gong-Su Gang ◽  
...  

There have been no studies as to whether parthanatos, a poly (adenosine diphosphate-ribose) polymerase-1 (PARP-1)-dependent and apoptosis-inducing factor (AIF)-mediated caspase-independent programmed cell death, is present in pulmonary hypertension (PH). Basic studies have, however, been conducted on several of the key molecules in parthanatos, such as PARP-1, AIF, and macrophage migration inhibitory factor (MIF). For this study, we collected blood samples from 88 incident male patients with PH and 50 healthy controls at the Shanghai Pulmonary Hospital. We measured the key factors of parthanatos (PARP-1, PAR, AIF, and MIF) by enzyme-linked immunosorbent assay and performed a logistic regression, Cox proportional hazards analysis, and Kaplan–Meier test to assess the prognostic value of the key molecules in diagnosing and predicting survival. The patients who ultimately died had a significantly poorer clinical status during the study than those who survived. The PARP-1, PAR, AIF, and MIF levels were significantly higher in the patients than in the controls (all p < .0001), and the PARP-1, PAR, and AIF levels were higher in the nonsurvivors than in the survivors (all p < .0001). PARP-1 and AIF levels served as independent predictors of disease onset and mortality in these patients (all p < .005). Patients with PARP-1 levels <11.24 ng/mL or AIF levels <1.459 pg/mL had significantly better survival than those with higher PARP-1 or AIF levels ( p < .0001). Circulating levels of PARP-1 and AIF were independent predictors for PH onset and mortality, which indicated that parthanatos might be associated with the pathogenesis of PH.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1224.3-1225
Author(s):  
J. Nossent ◽  
D. Preen ◽  
W. Raymond ◽  
H. Keen ◽  
C. Inderjeeth

Background:IgA vasculitis is generally considered to be a self-limiting condition, but this is at odds with the increased mortality observed in adult patients with IgA vasculitis (1).Objectives:With sparse data on prognostic factors in IgAV, we investigated whether pre-existing conditions are risk factors for mortality in adult IgAV patients.Methods:Observational population-based cohort study using state-wide linked longitudinal health data for adults with IgAV (n=267) and matched controls (n=1080) between 1980-2015. Charlson comorbidity index (CCI) and serious infections (SI) were recorded over an extensive lookback period prior to diagnosis. Date and causes of death were extracted from the WA Death Registry. Mortality rate (deaths/1000 person-years) ratios (MRR) and time dependent survival analysis assessed the risk of death. Age and gender specific mortality rate data were obtained from the Australian Bureau of Statistics.Results:During 9.9 (±9.8) years lookback IgAV patients accrued higher CCI scores (2.60 vs1.50 p<0.001) and had higher risk of SI (OR 8.4, p<0.001), not fully explained by CCI scores. During 19 years follow-up, the risk of death in IgAV patients (n=137) was higher than in controls (n=397) (MRR 2.06, CI 1.70-2.50, p<0.01) and the general population (SMRR 5.64, CI 4.25, 7.53, p<0.001). Survival in IgAV was reduced at five (72.7 vs. 89.7 %) and twenty years (45.2% vs. 65.6 %) (both p<0.05). CCI (HR1.88, CI:1.25 - 2.73, p=0.001), renal failure (HR 1.48, CI: 1.04 - 2.22, p=0.03) and prior SI (HR 1.48, CI:1.01 – 2.16, p=0.04) were independent risk factors. Death from infections (5.8 vs 1.8%, p=0.02) was significantly more frequent in IgAV patients.Conclusion:Premorbid accrual of comorbidity is increased and predicts premature death in IgAV patients. However, comorbidity does not fully explain the increased risk of serious infections prior to diagnosis or the increased mortality due to infections in IgAV.References:[1]Villatoro-Villar M, Crowson CS, Warrington KJ, Makol A, Ytterberg SR, Koster MJ. Clinical Characteristics of Biopsy-Proven IgA Vasculitis in Children and Adults: A Retrospective Cohort Study. Mayo Clin Proc. 2019;94(9):1769-80.Acknowledgements:The authors would like to acknowledge the support of the Arthritis Foundation of WA and acknowledge the Western Australian Data Linkage Branch, the Western Australian Department of Health, and the data custodians of, the Hospital and Morbidity Data Collection, the Emergency Department Data Collection the WA Cancer Register and the WA Death Register for their assistance with the study.Disclosure of Interests:None declared


2021 ◽  
pp. 1-11
Author(s):  
Dongying Fu ◽  
Jiani Shen ◽  
Wei Li ◽  
Yating Wang ◽  
Zhong Zhong ◽  
...  

Background: Elevated levels of serum trimethylamine N-oxide (TMAO) have been previously linked to adverse cardiovascular (CV) and all-cause mortality in hemodialysis patients. However, the clinical significance of serum TMAO levels in patients treated with peritoneal dialysis (PD) is unclear. Methods: A total of 1,032 PD patients with stored serum samples at baseline were enrolled in this prospective study. Serum concentrations of TMAO were quantified by ultra-performance liquid chromatography-tandem mass spectrometry. Cox proportional hazards and competing-risk regression models were performed to examine the association of TMAO levels with all-cause and CV mortality. Results: The median level of serum TMAO in our study population was 34.5 (interquartile range (IQR), 19.8–61.0) μM. During a median follow-up of 63.7 months (IQR, 43.9–87.2), 245 (24%) patients died, with 129 (53%) deaths resulting from CV disease. In the entire cohort, we observed an association between elevated serum TMAO levels and all-cause mortality (adjusted subdistributional hazard ratio [SHR], 1.22; 95% confidence interval [95% CI], 1.01–1.48; p = 0.039) but not CV mortality. Further analysis revealed such association differed by sex; the elevation of serum TMAO levels was independently associated with increased risk of both all-cause (SHR, 1.37; 95% CI, 1.07–1.76; p = 0.013) and CV mortality (SHR, 1.41; 95% CI, 1.02–1.94; p = 0.038) in men but not in women. Conclusions: Higher serum TMAO levels were independently associated with all-cause and CV mortality in male patients treated with PD.


2003 ◽  
Vol 371 (1) ◽  
pp. 61-69 ◽  
Author(s):  
Maria L. LANGDOWN ◽  
Mark J. HOLNESS ◽  
Mary C. SUGDEN

Overexpression of the conserved Ca2+-binding proteins calreticulin and calsequestrin impairs cardiac function, leading to premature death. Calreticulin is vital for embryonic development, but also impairs glucocorticoid action. Glucocorticoid overexposure during late fetal life causes intra-uterine growth retardation and programmed hypertension in adulthood. To determine whether intra-uterine growth retardation or programmed hypertension was associated with altered calreticulin or calsequestrin expression, effects of prenatal glucocorticoid overexposure (maternal dexamethasone treatment on days 15—21 of pregnancy) were examined during fetal life and postnatal development until adulthood (24 weeks). Dexamethasone (100 or 200μg/kg of maternal body weight) was administered via osmotic pump. Calreticulin was detected as a 55kDa band and calsequestrin as 55 and 63kDa bands in 21 day fetal hearts. Only the 55kDa calsequestrin band was detected postnatally. Prenatal glucocorticoid overexposure at the higher dose decreased calreticulin protein expression (26%; P<0.05) but increased calsequestrin protein expression, both 55 and 63kDa bands, by 87% (P<0.01) and 78% (P<0.01); only the 55kDa calsequestrin band was increased at the lower dose (66%; P<0.05). Offspring of dams treated at the lower dexamethasone dose were studied further. In control offspring, cardiac calreticulin protein expression declined between 2 and 3 weeks of age, and remained suppressed until adulthood. Cardiac calsequestrin protein expression increased 2-fold between fetal day 21 and postnatal day 1 and continued to increase until adulthood, at which time it was 3.4-fold higher (P<0.001). Prenatal dexamethasone exposure minimally affected postnatal calsequestrin protein expression, but the postnatal decline in calreticulin protein expression was abrogated and calreticulin protein expression in adulthood was 2.2-fold increased (P<0.001) compared with adult controls. In view of the known associations between cardiac calreticulin overexpression and impaired cardiac function, targeted up-regulation of calreticulin may contribute to the increased risk of adult heart disease introduced as a result of prenatal overexposure to glucocorticoids.


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