Traumatic growth and psychological resilience status of female victims of violence inpatients in a district psychiatric hospital

The aim of this study was to examine the traumatic mental growth and psychological resilience status of females who were receiving inpatient treatment at a district mental health hospital and had a history of being subjected to violence. One hundred-twenty female patients with a history of exposure to violence participated in the study. An introductory information form, the Traumatic Growth Inventory (TGI) and the Psychological Resilience Scale for Adults (PRSA) were used for data collection. This study found that all the participants were subjected to emotional violence, 65.8% to physical violence, 30.8% to sexual violence, and 94.2% to verbal violence at some point in their lives. Their TGI mean score (60.96?±?11.91) was above average, while their PRSA mean score (97.90?±?9.18) was below average. The participants' mean scores on the TGI and PRSA did not vary significantly by the type of violence (p?>?0.05) to which the women were exposed. Moreover, no statistically significant relationship was found between the TGI and the PRSA total scale and subscale mean scores (p?>?0.05). This study found that the posttraumatic growth of females who had a history of physical or emotional or sexual abuse was positive, and that their psychological resilience levels were inadequate.     

Women supporting women: Supportive/educative groups for ethnically diverse,urban, impoverished women dealing with depression and anxiety

Depression and anxiety are mental health issues that disproportionately affect urban, ethnically diverse, impoverished women. Using community based participatory research and in the context of long-term partnerships between a nursing department and underserved neighborhoods that are predominately Black, Hispanic, and White respectively, supportive/educative groups were offered. The study employed a quasi-experimental, nonequivalent comparison group pretest-posttest design. Seventy-two women aged 17–88?years participated. Repeated measures ANOVA indicated a significant increase in knowledge for self-care for depression and anxiety and a significant decrease in anxiety and depression symptomatology from before to after the group sessions.     

Renal involvement in PMM2-CDG,a mini-review

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation.We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG.Renal abnormalities were reported in 56 patients. Congenital abnormalities were present in 41 out of these 55. Cystic kidney and mild proteinuria were the most common findings. One of the most severe renal manifestations, congenital nephrotic syndrome, was detected in 6 children. Renal manifestations were not associated with the presence of specific PMM2 alleles.This review summarizes the reported renal abnormalities in PMM2-CDG and draws attention to the pathophysiological impact of abnormal glycosylation on kidney structure and function.     

The HLA-G Genetic Contribution to Bipolar Disorder: A Trans-Ethnic Replication

Bipolar disorder (BD) is frequently associated with immune dysfunctions. Studying the genetic diversity of the immuno-modulatory human leukocyte antigen (HLA)-G locus in a French BD cohort, we previously reported an association between a functionally relevant 14 bp Ins/Del polymorphism and BD risk. The present study investigated the genetic and expression diversities of HLA-G in a geographically distinct South Indian population-group BD patients, as well as the influence of exposure to the neurotropic Toxoplasma gondii pathogen. Three functionally relevant HLA-G polymorphisms, i.e. HLA-G 14 bp Ins/Del (rs66554220), +3142G>C (rs1063320) and +3187A>G (rs9380142) were genotyped by polymerase chain reaction (PCR) and real-time PCR. Sub-samples of BD patients and healthy controls (HC) were investigated for plasma levels of soluble HLA-G (sHLA-G) isoforms, as well as circulating stigma of T. gondii infection.

Findings indicate: (i) the frequency of the HLA-G 14 bp Del/Del genotype was higher in BD cases, as compared to HC; (ii) the HLA-G + 3142 C allele and CC genotype were more prevalent in BD patients than in HC; (iii) sHLA-G levels were significantly higher in BD cases, especially in females and in the early onset sub-group; and (iv) the InsGA haplotype was more prevalent in HC.

Our findings further support the genetic contribution of HLA-G to BD risk, as well as indicate relevant expression profiles. Such data may also indicate a potential developmental role in BD etiology, given that HLA-G is an important immune regulator from the intrauterine period and across development.     

An EEG-based functional connectivity measure for automatic detection of alcohol use disorder

BackgroundThe abnormal alcohol consumption could cause toxicity and could alter the human brain’s structure and function, termed as alcohol used disorder (AUD). Unfortunately, the conventional screening methods for AUD patients are subjective and manual. Hence, to perform automatic screening of AUD patients, objective methods are needed. The electroencephalographic (EEG) data have been utilized to study the differences of brain signals between alcoholics and healthy controls that could further developed as an automatic screening tool for alcoholics.MethodIn this work, resting-state EEG-derived features were utilized as input data to the proposed feature selection and classification method. The aim was to perform automatic classification of AUD patients and healthy controls. The validation of the proposed method involved real-EEG data acquired from 30 AUD patients and 30 age-matched healthy controls. The resting-state EEG-derived features such as synchronization likelihood (SL) were computed involving 19 scalp locations resulted into 513 features. Furthermore, the features were rank-ordered to select the most discriminant features involving a rank-based feature selection method according to a criterion, i.e., receiver operating characteristics (ROC). Consequently, a reduced set of most discriminant features was identified and utilized further during classification of AUD patients and healthy controls. In this study, three different classification models such as Support Vector Machine (SVM), Naïve Bayesian (NB), and Logistic Regression (LR) were used.ResultsThe study resulted into SVM classification accuracy = 98%, sensitivity = 99.9%, specificity = 95%, and f-measure = 0.97; LR classification accuracy = 91.7%, sensitivity = 86.66%, specificity = 96.6%, and f-measure = 0.90; NB classification accuracy = 93.6%, sensitivity = 100%, specificity = 87.9%, and f-measure = 0.95.ConclusionThe SL features could be utilized as objective markers to screen the AUD patients and healthy controls.     

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β‐precursor of GlcNAc‐1‐phosphotransferase. This enzyme catalyzes the initial step in the modification of more than 70 lysosomal enzymes with mannose 6‐phosphate residues to ensure their intracellular targeting to lysosomes. The so‐called stealth domains in the α‐ and β‐subunit of GlcNAc‐1‐phosphotransferase were thought to be involved in substrate recognition and/or catalysis. Here, we performed in silico alignment analysis of stealth domain‐containing phosphotransferases and showed that the amino acid residues Glu³⁸⁹, Asp⁴⁰⁸, His⁹⁵⁶, and Arg⁹⁸⁶ are highly conserved between different phosphotransferases. Interestingly, mutations in these residues were identified in patients with MLII and MLIII alpha/beta. To further support the in silico findings, we also provide experimental data demonstrating that these four amino acid residues are strictly required for GlcNAc‐1‐phosphotransferase activity and thus may be directly involved in the enzymatic catalysis.     

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.