Spirituality and health: is there a relationship?

The role of spiritual and religious factors in health, viewed from a scientific perspective, has been yielding interesting if not intriguing results. In general, studies have reported fairly consistent positive relationships with physical health, mental health, and substance abuse outcomes, mostly using cross-sectional or prospective designs. Some spiritual or religious factors, however, have failed in some studies to demonstrate significant outcomes. Empirical relationships have been commonly based on only a few questionnaire items. Adequate controls for possible moderating or confounding factors that could explain health outcomes have often been missing. A healthy skepticism seems called for, given the need to clarify and refine concepts, such as spirituality; to develop comprehensive assessments; and to conduct experimentally designed studies. Although the overall evidence is promising enough to warrant careful and expanded study, the need for a methodological pluralism in research and for cultural sensitivity is recommended.     

Yaws in Côte d'lvoire: health problem forgotten and neglected

Yaws is endemic in C?te d'Ivoire, with an hospital incidence estimated by the medical statistics at 0.58 per thousand in 2000; cases of yaws were notified in all medical districts. This study describes the yaws situation in C?te d'Ivoire based on available hospital statistics and a cross section investigation. The yaws diagnoses during the investigation were based on clinic lesions. The yaws prevalence found at the end of the investigation was 5 per thousand: the majority of the patients were children under 15 years old (82%) and male (91%). Only 27% of diagnosed patients had a medical treatment at the time of the study. Yaws is still endemic in C?te d'Ivoire which underlines the need for an implementation of a national control strategy.     

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP. PHP type Ic (PHPIc) and PHPIa share clinical features of Albright hereditary osteodystrophy (AHO); however, in vitro activity of solubilized Gsα protein is normal in PHPIc but reduced in PHPIa. We screened 32 patients classified as PHPIc for GNAS mutations and identified three mutations (p.E392K, p.E392X, p.L388R) in four unrelated families. These and one novel mutation associated with PHPIa (p.L388P) were introduced into a pcDNA3.1(-) expression vector encoding Gsα wild-type and expressed in a Gsα-null cell line (Gnas(E2-/E2-) ). To investigate receptor-mediated cAMP accumulation, we stimulated the endogenous expressed β(2) -adrenergic receptor, or the coexpressed PTH or TSH receptors, and measured the synthesized cAMP by RIA. The results were compared to receptor-independent cholera toxin-induced cAMP accumulation. Each of the mutants associated with PHPIc significantly reduced or completely disrupted receptor-mediated activation, but displayed normal receptor-independent activation. In contrast, PHPIa associated p.L388P disrupted both receptor-mediated activation and receptor-independent activation. We present a new subgroup of PHP that is caused by Gsα deficiency and selectively affects receptor coupling functions of Gsα.     

Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease

OBJECTIVES: Beh?et's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. METHODS: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. RESULTS: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. CONCLUSIONS: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.     

A meta-analysis of the relationship between MYO9B gene polymorphisms and susceptibility to Crohn’s disease and ulcerative colitis

ObjectiveBoth Crohn’s disease (CD) and ulcerative colitis (UC) have a complex etiology involving multiple genetic and environmental factors. Multiple UC and CD susceptibility genes have been identified through genome-wide association studies and subsequent meta-analyses. The aim of this meta-analysis was to clarify the impact of MYO9B gene polymorphisms on CD and UC risk.MethodsThe PubMed, Elsevier Science Direct and Embase databases were searched to identify eligible studies that were published before October 2014. Data were extracted and pooled crude odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated.ResultsA total of 11 studies, containing 3297 CD cases, 3903 UC cases and 8174 controls were included in this meta-analysis. Bonferroni correction results showed that rs1545620 A/C polymorphism of MYO9B gene was associated with both CD and UC susceptibility in Caucasians (OR = 0.88, 95% CI = 0.82 ∼ 0.95, P = 0.001; OR = 0.82, 95% CI = 0.76 ∼ 0.89, P < 0.001), but not in Chinese. rs1457092 G/T and rs2305764 C/T polymorphisms are associated with UC susceptibility (OR = 0.85, 95% CI = 0.79 ∼ 0.91, P < 0.001; OR = 0.88, 95% CI = 0.83 ∼ 0.93, P < 0.001), but not with CD susceptibility in Caucasians.ConclusionsThis meta-analysis suggested that rs1545620 is both CD and UC susceptible locus in Caucasians; rs1457092 and rs2305764 are UC susceptible loci, but are not CD susceptible loci in Caucasians. Further studies with more sample size are needed for a definitive conclusion.     

Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families

Estrogen receptor alpha (ER-) plays an important role in mediating estrogen signaling. Studies in Caucasian populations have shown that it is involved in endocrine-related diseases such as osteoporosis and obesity. In the present study, we first used a quantitative transmission disequilibrium test (QTDT) to examine the relationship between this gene and both the osteoporosis-related phenotype bone mineral density (BMD), and the obesity-related phenotype body mass index (BMI), in 384 Chinese nuclear families. We genotyped a dinucleotide repeat marker (TA)_n, and a long-range haplotype was reconstructed using this marker and two other restriction fragment length polymorphism (RFLP) markers at PvuII and XbaI loci. Although we found significant total association [allele (TA)₂₁ with hip BMD (P=0.001), and haplotype Px(TA)₂₁ with spine (P=0.0007) and hip (P=0.0006) BMD], the more reliable within-family associations were not significant between these phenotype pairs. No linkage signal was obtained for either spine BMD or hip BMD. We found no association or linkage between any of the three studied polymorphisms and the long-range haplotypes of the ER- gene and BMI. Our study does not support an association of the ER- gene with BMD and BMI in the Chinese population.     

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

Juvenile retinoschisis (RS) and Norrie disease (ND) are X-linked recessive retinal disorders. Both disorders, in the majority of cases, are monogenic and are caused by mutations in the RS and ND genes, respectively. Here we report the identification of a family in which mutations in both the RS and ND genes are segregating with RS pathology. Although the mutations identified in this report were not functionally characterized with regard to their pathogenicity, it is likely that both of them are involved in RS pathology in the family analyzed. This suggests the complexity and digenic nature of monogenic human disorders in some cases. If this proves to be a widespread problem, it will complicate the strategies used to identify the genes involved in diseases and to develop methods for intervention. Received: October 2, 2000 / Accepted: November 7, 2000     

Isoflavones and postmenopausal bone health: a viable alternative to estrogen therapy?

OBJECTIVE: The rapidly growing postmenopausal population in the United States, and this population's high incidence and prevalence of osteoporosis and related morbidity and mortality herald an enormous public health burden for the coming decades. Estrogen replacement has been the mainstay of therapy for the prevention and treatment of osteoporosis in this estrogen-deficient population. However, long-term compliance with estrogen therapy generally is poor, and there are numerous concerns regarding its safety. The phytoestrogens are nonsteroidal plant-derived compounds that exhibit estrogenic activity at several sites. The isoflavones are one class of phytoestrogens derived largely from soy-based products. International popularity for menopausal therapy regimens containing isoflavones is growing rapidly. In this article, we review the existing data on isoflavones and postmenopausal bone health. DESIGN: A review of interventional trials examining isoflavones and bone in animals and humans. RESULTS: The data point to a reduction in bone resorption resulting from isoflavone/ipriflavone intake. CONCLUSIONS: The data on naturally occurring isoflavones are very limited but suggest that including them in the diet results in reduction in bone resorption caused by estrogen deficiency. The extensive data on ipriflavone, a synthetic isoflavone derivative, suggest that it is a useful and safe alternative to estrogen therapy in treating existing low bone mass or osteoporosis in postmenopausal women. Further studies are warranted to examine the utility of ipriflavone as a preventive agent, as well as the clinical efficacy of the naturally occurring isoflavones.     

Pemphigus foliaceus and desmoglein 1 gene polymorphism: is there any relationship?

Transmembrane proteins of the cadherin superfamily, the desmogleins and desmocollins, mediate intercellular adhesion in desmosomes. Autoantibodies to desmoglein 1 (dsg1) are a hallmark of pemphigus foliaceus (PF), a disease characterized by skin blistering resulting from keratinocyte cell detachment. The etiology and pathogenesis of this disease remain poorly understood; however, genetic susceptibility is clearly involved. The aim of this study was to verify if genetic variants of dsg1 influence susceptibility/resistance to endemic PF (fogo selvagem). Two single nucleotide polymorphisms (SNPs) were analyzed: 809 (C,T), a synonymous variation, and 1660 (A,C), a tyrosine<-->serine variation in the fifth extracellular domain. Allelic, haplotypic and genotypic frequencies did not differ significantly between the patient (n=134) and the control (n=227) population samples. Moreover, there is no evidence of interaction between the DSG1 and the HLA-DRB1 and IL6 genes, whose alleles had been found associated with differential susceptibility to PF. The results of this study agree with the described and predicted B- and T-cell epitopes of the dsg1 molecule, which seemingly are not affected by the allelic variation. We conclude that genetic diversity of the autoantigen dsg1 is not a major factor for PF pathogenesis in the Brazilian population.     

Exercise volume and intensity: a dose–response relationship with health benefits

Introduction

The health benefits of exercise are well established. However, the relationship between exercise volume and intensity and health benefits remains unclear, particularly the benefits of low-volume and intensity exercise.

Purpose

The primary purpose of this investigation was, therefore, to examine the dose–response relationship between exercise volume and intensity with derived health benefits including volumes and intensity of activity well below international recommendations.

Methods

Generally healthy, active participants (n = 72; age = 44 ± 13 years) were assigned randomly to control (n = 10) or one of five 13-week exercise programs: (1) 10-min brisk walking 1×/week (n = 10), (2) 10-min brisk walking 3×/week (n = 10), (3) 30-min brisk walking 3×/week (n = 18), (4) 60-min brisk walking 3×/week (n = 10), and (5) 30-min running 3×/week (n = 14), in addition to their regular physical activity. Health measures evaluated pre- and post-training including blood pressure, body composition, fasting lipids and glucose, and maximal aerobic power (VO₂max).

Results

Health improvements were observed among programs at least 30 min in duration, including body composition and VO₂max: 30-min walking 28.8–34.5 mL kg^?1 min^?1, 60-min walking 25.1–28.9 mL kg^?1 min^?1, and 30-min running 32.4–36.4 mL kg^?1 min^?1. The greater intensity running program also demonstrated improvements in triglycerides.

Conclusion

In healthy active individuals, a physical activity program of at least 30 min in duration for three sessions/per week is associated with consistent improvements in health status.     

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)

Sj?gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 that encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that catalyzes the oxidation of long-chain aldehydes derived from lipid metabolism. In SLS patients, 72 mutations have been identified, with a distribution that is scattered throughout the ALDH3A2 gene. Most mutations are private but several common mutations have been detected, which probably reflect founder effects or recurrent mutational events. Missense mutations comprise the most abundant class (38%) and expression studies indicate that most of these result in a profound reduction in enzyme activity. Deletions account for about 25% of the mutations and range from single nucleotides to entire exons. Twelve splice-site mutations have been demonstrated to cause aberrant splicing in cultured fibroblasts. To date, more than a dozen intragenic ALDH3A2 polymorphisms consisting of SNPs and one microsatellite marker have been characterized, although none of them alter the FALDH protein sequence. The striking mutational diversity in SLS offers a challenge for DNA-based diagnosis, but promises to provide a wealth of information about enzyme structure-function correlations.     

Multinodular and vacuolating neuronal tumor affecting amygdala and hippocampus: A quasi‐tumor?

Multinodular and vacuolating neuronal tumors (MVNT) have been referred to as distinctive neuronal tumors whose characteristic features include multiple nodules localized in the subcortical white matter. MVNT are composed of vacuolating dysplastic neurons reactive to HuC/HuD. A significant overexpression of alpha‐internexin (INA) limited to the stroma of nodules was reported in one tumor. Since genetic analyses have failed to demonstrate any consistent alterations, the nosological position as well as the nature of MVNT, namely, neoplastic or dysplastic, remains unclear. We herein present another example of MVNT involving the amygdala and anterior hippocampus in a 41‐year‐old man. In addition to the nodular lesions described earlier, we found INA‐positive ribbon‐like lesions that replaced neuropil and extended along the hippocampal gray matter. We also identified dysplastic neurons infiltrating into the CA4 hilus of the hippocampus. Intense INA expression was present in the stroma as well as the cytoplasmic membrane of dysplastic neurons and their processes. While the invasiveness suggested a neoplasm, a relatively restrictive, either nodular or ribbon‐like growth pattern with INA‐positive abnormal neuropil suggested a hamartoma. Such quasi‐tumors should be accommodated in the World Health Organization classification of tumors of the central nervous system, as are dysembryoplastic neuroepithelial tumor and Lhermitte‐Duclos disease.     

Relationship between long non-coding RNAs and Alzheimer’s disease: a systematic review

Alzheimer disease (AD), is a typical progressive and destructive neurodegenerative disease. It is the leading cause of senile dementia that is mainly represented as neurocognitive symptoms, including progressive memory impairment, cognitive disorder, personality change and language barrier, etc. The pathogeny and nosogenesis of AD have not been clearly explained. AD is characterized by extracellular senile plaques (SP) formed by beta amyloid (Aβ) deposition and neurofibrillary tangles in neuronal cells formed by hyperphosphorylation of tau, as well as the deficiency of neuronal with gliosis. However, the complete spectrum of regulating factors in molecular level that affect the pathogenesis of AD is unclear. Long non-coding RNAs (lncRNAs) are involved in numerous neurodegenerative diseases, such as Parkinson’s disease (PD) and AD. It is increasingly recognized that lncRNAs is tightly related to the pathogenesis and prevention and cure of AD. In the review, we highlighted the roles of lncRNAs in AD pathways and discussed increasing interest in targeting and regulating lncRNAs for the therapeutics of AD.     

Growth and sexual dimorphism of the hyoid bone and its relationship to the mandible from birth to 19 years: A three-dimensional computed tomography study

The hyoid bone and the hyomandibular complex subserve the functions of respiration, deglutition, and speech. This study quantified the growth of the hyoid bone and the hyomandibular relationships in males and females from birth to 19 years. Using 97 computed tomography (CT) scans, from a previous study (Kelly et al., 2017) on mandibular growth from 49 individuals (16 with longitudinal scans), landmarks were placed on 3D CT models and used to calculate four distance, and three angular measurements. A general increase in growth trend was observed in hyoid bone linear measurements—length, width, and depth—as well as relational mandible-to-hyoid distance, throughout the developmental ages examined in both males and females, with most variables having larger measurements for females up to age 10 years. A general decrease in all three angular measurements was observed in both males and females up to approximately age 12 years, at which time male angular measurements gradually increased with significant sexual dimorphism emerging after age 15 years. As expected, postpubertal males had greater hyoid angle than females; they also had greater hyoid angle of inclination than mandible body inclination (with inclination relative to the anterior–posterior nasal plane), likely related to hyo-laryngeal descent. This study contributes to normative data on hyoid bone and hyomandibular relational growth in typically developing individuals and provides a baseline against which structural and functional influences on anatomic growth may be examined by clinical disciplines that address the aerodigestive and speech functions, as well as the fields of anatomy, forensics, and anthropology.     

Formation and repair of DNA lesions in the p53 gene: Relation to cancer mutations?

The number and diversity of mutations in the p53 mutation data base provides indirect evidence that implicates environmental mutagens in human carcinogenesis. The p53 gene has a large mutational target size; more than 280 out of 393 amino acids are found mutated in tumors. We argue that there is possibly a limited involvement of selection for specific mutations in the central domain of the protein, and that the distribution of DNA damage along the p53 gene caused by environmental carcinogens can be correlated with the mutational spectra, i.e., hotspots and types of mutations, of certain cancers. This concept has been validated by experiments with sunlight and the cigarette smoke component benzo[a]pyrene representing the polycyclic aromatic hydrocarbon class of carcinogens. The damage/repair data obtained for these mutagens can predict certain parameters of the mutational spectra including the distribution of hotspots in human nonmelanoma skin cancers and lung cancers from smokers. Future studies with suspected mutagens may help to implicate causative agents involved in other cancers, such as colon and breast cancer, where the exact carcinogen has not yet been identified but an environmental factor is suspected. Environ. Mol. Mutagen. 31:197–205, 1998 © 1998 Wiley-Liss, Inc.     

Let’s stay together: relationship dissolution and sexually transmitted diseases among parenting and non-parenting adolescents

Relationships influence sexual risk and maternal-child health. Few studies have assessed relationship dissolution and its association with sexually transmitted diseases (STD) among adolescent parents. Our study aimed to describe relationship dissolution among 295 parenting and non-parenting adolescents over an 18-month period and how it related to STD incidence. Results showed that nonparenting adolescents in a relationship with someone other than their baby’s father were more likely to have a relationship dissolution over an 18-month period compared to those in a relationship with the baby’s father (OR = 1.69, P < .05). Parenting adolescents who ended their relationship with their baby’s father were 3 times more likely to get an STD over the course of the study compared to parenting adolescents who remained with their baby’s father (39% vs. 13%). Comparatively, nonparenting adolescents who ended their relationship were only 1.4 times more likely to get an STD compared to non-parenting adolescents who remained with their partner (44% vs. 32%). Our results suggest that prevention programs that incorporate male partners and components that strengthen relationship skills may reduce HIV/STD risk and help adolescents adapt during times of transition such as parenthood.     

Women’s mental health: A “wish-list” for the DSM V

This article highlights four areas of mental health affecting women in the reproductive age group which, in the author’s opinion, are poorly dealt with in the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM IV) (American Psychiatric Association 1994). These are depression occurring during pregnancy; childbirth-related post-traumatic stress disorder; disorders of parent-to-infant attachment and perinatal bereavement. It is suggested that, if these could be better addressed in the forthcoming DSM V, this would provide a very significant impetus for improved education of health professionals, as well as better recognition and earlier intervention in these disorders. As these are relatively common disorders, a very large number of women and their families would potentially benefit.