Cerebrotendinous xanthomatosis,sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen,MD (1935–2020)

Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. The diagnoses of CTX and sitosterolemia are often delayed for many years because of lack of physician awareness, often resulting in significant and unnecessary progression of disease. CTX may present with chronic diarrhea, juvenile onset cataracts, strikingly large xanthomas, and neurologic disease in the setting of a normal serum cholesterol, but markedly elevated serum or plasma cholestanol levels. These patients have a defect in producing the bile acid chenodoxycholate, and oral chenodeoxycholate therapy is essential for these patients in order to prevent neurologic complications. Sitosterolemia can present with xanthomas, anemia, thrombocytopenia, splenomegaly, very premature heart disease, and serum cholesterol levels that may be normal or elevated, along with marked elevations of plasma β-sitosterol. These patients have a defect causing overabsorption of β-sitosterol, and the treatment of choice is oral ezetimibe. SLOS presents with growth delay, intellectual disability, multiple structural anomalies, and low serum cholesterol levels, and the defect is reduced cholesterol production. Treatment consists of dietary cholesterol supplementation and oral bile acid therapy which raises serum cholesterol levels and may improve symptoms. The metabolic and genetic defects in these disorders have been defined. There is no one in our field that has contributed more to the diagnosis and treatment of these disorders than Gerald Salen, MD, who died in late 2020 at 85 years of age. He will be greatly missed by his family, friends, and colleagues from around the world.     

Effect of Genistein Intake on Some Cardiovascular Risk Factors: An Updated Systematic Review and Meta-analysis

Genistein, an isoflavone in soybean products has potential cardio-protective effects and is used also as an alternative for estrogen therapy in postmenopausal women. However, results in this regard are inconsistent and also, not all risk factors related to cardiovascular supportive effects have been meta-analyzed. We searched PubMed, Scopus, ISI Web of Science, and Google Scholar from inception up to October 2020. Random-effects meta-analysis was used for data synthesis. The search included studies with information on genistein supplementation and lipid profile [triglycerides (TG), total cholesterol (TC),low-density lipoprotein (LDL-C), and high-density lipoprotein HDL-C)], systolic and diastolic blood pressure (SBP & DBP), body mass index [BMI] and body weight. Pooled results of studies showed that genistein intake significantly reduced TC [95%CI: -0.49(-0.80, -0.18); P=0.002)], LDL-C [95%CI: -0.60(-1.10, -0.10); P=0.018)] and SBP [95%CI: -0.52(-0.90, -0.14); P=0.007)]. DBP, HLD-C, TG, BMI, and body weight showed no meaningful improvement. Subgroup analysis showed that LDL-C and SBP were reduced more effectively in postmenopausal women with metabolic syndrome. Genistein intake more than 6 months showed a greater effect on lowering cholesterol -0.76(-1.27, -0.24), SBP [-0.39(-0.70, -0.08)] and DBP -0.40(-0.81, -0.00) and increasing TG and LDL-C. This meta-analysis provides consistent evidence that genistein intake reduces the CVD risk factors of TC, LDL-C, and SBP significantly.     

The Morphology of Coronary Artery Disease in South Asians vs White Caucasians and Its Implications

South Asians (SAs) experience a higher prevalence and earlier onset of coronary artery disease and have worse outcomes compared with White Caucasians (WCs) following invasive revascularisation procedures, a mainstay of coronary artery disease (CAD) management. We sought to review the differences in the CAD pattern and risk factors between SA and WC patients and to discuss their potential impact on the development of coronary disease, acute coronary syndrome, and revascularisation outcomes. SAs have a more diffuse pattern with multivessel involvement compared with WCs. However, less is known about other morphologic characteristics, such as calcification of atherosclerotic plaque and coronary diameter in SA populations. Despite a similar coronary calcification burden, higher noncalcified plaque composition, elevated thrombosis, and inflammatory markers likely contribute to the disease pattern. Although the current evidence on the role of coronary vessel size remains inconsistent, smaller diameters in SAs could play a potential role in the higher disease prevalence. This is especially important given the impact of coronary artery diameter on revascularisation outcomes. In conclusion, SAs have a unique CAD risk profile composed of traditional and novel risk factors. Our findings highlight the need for additional awareness of health professionals of this specific risk profile and potential therapeutic targets, as well as the need for further research in this vulnerable population.     

Cervical cancer in Morocco: A systematic review

BackgroundThis systematic review aims to determine the epidemiological profile, etiology and risk factors, prevention, diagnosis, treatment, cost-effectiveness, survival, and quality of life related to cervical cancer in Morocco.MethodsThis study was conducted according to the recommendations of the "preferred reporting items for systematic reviews and meta-analysis." The PubMed, ScienceDirect, Springer, Web of Science data bases were used, as was Google Scholar for the grey literature. The review protocol was registered in the PROSPERO register (CRD42021235241).ResultsFifty studies were selected. The mean age was 49.31 ±6.3 years. HPV infection prevalence ranged from 13.30% to 76%, with a peak in HIV-positive women. Acceptability of the HPV vaccine was higher among parents (35% and 82%) than among adolescents (16.9% to 46.6%). Knowledge of the vaccine and its price are two key factors related to vaccine acceptability among parents. This systematic review highlights that the fact that few eligible women (not more than 11%) were participating in the cervical cancer screening program. Moroccan women's level of knowledge and awareness regarding cervical cancer screening was low, negatively impacting their use of such screening tools, as illustrated by the high percentage (mean 76.32% ± 17.21) of women who had never been screened for cervical cancer. Treatment was the most significant component of the global care budget (95.87%), with an annual cost of $13,027,609. Five-year overall survival ranged from 41.3% to 73.6%, with higher survival rates for patients diagnosed at an earlier stage (77.3–85% for stage I). Lastly, low quality of life was observed in women with tumors at an advanced stage who had received brachytherapy and lacked social support.ConclusionsSubjects that require further investigation include Moroccan women's knowledge, attitudes, and awareness, especially among those at high risk of developing cervical cancer, and its impact on their quality of life and survival.     

Design and Implementation of a Nutrition and Breastfeeding Education Program for Black Expecting Mothers and Fathers

ObjectiveTo describe the intervention and research methods of Project Dads in Nutrition Education, an intervention that adds nutrition and breastfeeding education to the existing Healthy Start program in Georgia for Black expecting mothers and fathers to improve nutrition literacy, health outcomes, and breastfeeding rates.DesignThis 2-year community-based participatory research study employs a cluster randomization factorial design.SettingSix Healthy Start program sites (3 intervention and 3 control sites) in Georgia counties with high infant and maternal mortality rates.ParticipantsApproximately 480 Black, expecting, Healthy Start program participants (20 couples [mother and father] and 40 single mothers from each site) will be enrolled over the study period.Intervention(s)Project Dads in Nutrition Education will strengthen the capacity of the Georgia Healthy Start program to integrate an evidence-based nutrition education program, breastfeeding education, and father engagement into its routine services.Main Outcome Measure(s)Changes in prepost survey assessment of participants’ nutrition literacy and eating behaviors; changes in prepost survey assessment of participants’ breastfeeding knowledge, attitudes, intent, initiation, and duration; and health and food diary collected 3 times (ie, at baseline, 3 months, and 6 months after enrollment).AnalysisProcess evaluation throughout the study to document implementation. Generalized linear mixed modeling will be used to determine the impact of the intervention.     

Grandparent Coresidence and Risk of Early Child Overweight and Obesity in Low-Income,Hispanic Families in New York City

ObjectiveChildren in low-income Hispanic families are at high risk of obesity and are more likely to live with grandparents than their non-Hispanic white counterparts. We aimed to determine if grandparent coresidence (prenatal through age 2 years) was associated with: 1) obesogenic feeding practices; and 2) child weight outcomes from birth to three years.MethodsWe analyzed data from 267 low-income, Hispanic mother-infant pairs in the control group of an obesity prevention trial in New York City. Linear and logistic regression tested differences in obesogenic feeding practices and weight outcomes at 2 and 3 years, dependent upon grandparent coresidence. Multilevel modeling tested associations between grandparent coresidence and WFAz over time.ResultsPersistent grandparent coresidence (vs none) was associated with putting cereal in the bottle (adjusted odds ratio [aOR] 3.46; 95% confidence interval [CI] 1.43, 8.40). Persistent grandparent coresidence (vs none) was associated with higher mean WFAz (2 years: B 0.83; 95% CI 0.41, 1.25; 3 years: B 0.79; 95% CI 0.32, 1.25) and higher odds of child overweight/obesity risk (2 years: aOR 4.38; 95% CI 1.64, 11.69; 3 years: aOR 3.15; 95% CI 1.19, 8.36). In multilevel models, more occasions of grandparent coresidence were associated with higher WFAz.ConclusionsGrandparent coresidence may be associated with higher risk of child overweight/obesity in low-income, Hispanic families. Further research is needed to elucidate mechanisms of these associations and to inform obesity prevention strategies in the context of multigenerational families.     

Cancer; Pathophysiology and Stress Modulation (Cancer,Therapeutic Interventions)

ObjectiveThe purpose of this review is to describe the myriad complications of cancer and its therapies to emphasize the pathophysiological need for prehabilitation.Data SourcesThe information presented in this review is from applicable, peer-reviewed scientific articles.ConclusionCancer itself renders negative effects on the body, most notably unintentional weight loss and fatigue. Cancer treatments, especially surgical interventions, can cause detrimental short- and long-term impacts on patients, which translate to suboptimal treatment outcomes. Prehabilitation can be used to improve patient health prior to anticancer therapies to improve treatment tolerance and efficacy.Implications for Nursing PracticeNurses play an important role in the treatment of patients with cancer throughout the cancer care continuum. Many nurses are already aiding their patients in cancer prehabilitation through education. By describing common impairments amenable to multimodal prehabilitation, nurses may better advocate for their patients and can become even more involved in this aspect of care.     

Associations between adolescents’ experience of general practitioners and health outcomes in England: a cross-sectional study of national data

BackgroundAdolescence is a key stage of the life course when lifelong health behaviours and attitudes to health care can be established. Poor experience of consultations with a general practitioner (GP) is common among adolescents, but little is known about whether poor experience in this group is associated with worse health status or outcomes. This study aimed to investigate this association with data from the 2014 Health Behaviour in School-Aged Children (HBSC) survey (England).MethodsWe used logistic regression to analyse data for 5335 participants aged 10–17 years in the HBSC survey. Four aspects of recent GP experience were studied: feeling at ease, being treated with respect, quality of GP explanation, and feeling able to talk about personal matters. Five dichotomised measures of health status or outcome were used (ever self-harmed; fair or poor self-reported health; frequent [at least weekly] low mood, sleeping problems, or headaches). We adjusted for participants’ sex, age, ethnicity, and family affluence score. Of 5178 participants, 1187 (23%) had not visited their GP within the past year and were excluded from the analysis.FindingsOf 3991 adolescents, 3632 (91%) felt treated with respect, 2091 (52%) could talk about personal matters, 1600 (40%) were satisfied with explanations, and 1221 (31%) felt at ease. Participants who reported poor experience of GP care were more likely to have poor health outcomes than were those who reported a good experience. For example, adolescents who did not feel at ease with their GP were more likely to report self-harm (adjusted odds ratio [AOR] 2·65, 95% CI 1·69–4·15; fair or poor health 1·64, 1·28–2·10; low mood 1·51, 1·25–1·82) and sleeping problems (1·41, 1·19–1·66). All GP indicators were associated with self-harm (AOR range 1·64–2·70; quality of GP explanation p=0·006, all others p<0·001) and feeling low (1·46–2·11, all p<0·001). The association with GP experience was less consistent for the other three health outcomes.InterpretationThis cross-sectional, observational study demonstrates that young people who report worse health symptoms, typically also report a poor experience of care. Further research is needed to investigate whether GP experience influences health outcomes—suggesting that improving GP experience might improve health outcomes in this group—or whether poor health status leads to more negative perceptions of care.FundingNone.