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1.
Am J Med Genet B Neuropsychiatr Genet ; 177(7): 641-657, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30325587

RESUMO

Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies to determine if commonly varying single nucleotide polymorphisms are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depression, obsessive compulsive disorder, schizophrenia, smoking behavior, and Tourette syndrome. Loci significantly mediating genetic correlations were identified for schizophrenia when analytically paired with Crohn's disease, primary biliary cirrhosis, systemic lupus erythematosus, and ulcerative colitis. We report significantly correlated loci and highlight those containing genome-wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations among the immune-related phenotypes. We discuss our findings in the context of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study.


Assuntos
Doenças Autoimunes/genética , Transtornos Mentais/genética , Doenças Autoimunes/fisiopatologia , Comorbidade , Bases de Dados Factuais , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla/métodos , Humanos , Desequilíbrio de Ligação , Masculino , Transtornos Mentais/fisiopatologia , Herança Multifatorial , Polimorfismo de Nucleotídeo Único , População Branca/genética
2.
Eur J Midwifery ; 5: 3, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33537652

RESUMO

INTRODUCTION: While all healthcare services across the globe deferred non-urgent surgeries, labor wards provided maternity care during the COVID-19 pandemic continuously. This study assesses the knowledge and practices of obstetricians and midwives about personal protective equipment (PPE); their risk perception of COVID-19 and satisfaction with the preventive measures adopted at their workplace. METHODS: A questionnaire designed according to the World Health Organization's advice on rational use of personal protective equipment for COVID-19 was administered to 452 Pakistani maternity care providers between 1 July and 30 July 2020. RESULTS: Most (85%) had adequate knowledge and 78.8% had good practices regarding PPE use. The perceived risk of contracting COVID-19 was lower than for influenza and tuberculosis. Perceived risk of contracting COVID-19 was highest for outpatient clinics. Fewer midwives compared to obstetricians (23.3% vs 32.9 %, p=0.001) were satisfied with the job security provided. Only 19.5% were satisfied with the social distancing measures at their setups. Less than one-third (31%) were satisfied with the PPE available to them. CONCLUSIONS: The participants had good knowledge and practices regarding PPE. The perceived risk of contracting COVID-19 was lower than for contracting influenza; however, they were concerned about contracting COVID-19 in outpatient clinics and emergency rooms. They had poor satisfaction with the measures adopted by hospital managements regarding job security and social distancing.

3.
Eur J Midwifery ; 5: 54, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34888498

RESUMO

INTRODUCTION: Data regarding pregnancy and related outcomes with COVID-19 are inconsistent, which leads to difficulties in counselling pregnant women. This brings uncertainty to pregnant women regarding mode of birth, transmission and issues that may occur in case they contract the disease. We conducted this study to assess the knowledge about COVID-19 risk during pregnancy and childbirth and to assess the concerns, attitudes, and practices of pregnant women during the pandemic. METHODS: A cross-sectional survey was carried out among 376 consenting pregnant women attending antenatal clinics in Karachi, Pakistan, between 1 July and 16 July 2020, using pretested questionnaires. RESULTS: A total of 376 pregnant women participated in the survey. Participants had inadequate knowledge about COVID-19 risk during pregnancy, including potential vertical transmission (58.5%), preferred route of delivery (52%), safety of breastfeeding (50%), birth defects (44.7%), rooming in and skin-to-skin contact (58.5%). The majority (85.1%) had a high concern score, and negative attitude (62.8%). Only 43.6% said that they would not hide their symptoms, while 37.2% stated that they will deliver at hospital if they tested positive. Only 30.9% of respondents had good practices. During visits, 39.4% maintained social distancing and sanitized hands while only 37.2% said that they did not bring more than one person with them. CONCLUSIONS: The study population had inadequate knowledge, negative attitude, and poor practices regarding pregnancy during the COVID-19 pandemic. More than half of the respondents thought that concealing symptoms and delivering at home would be better. Awareness programs are urgently needed.

4.
Cureus ; 10(4): e2514, 2018 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-29942717

RESUMO

Introduction Academic undertakings, including research, lead to career progression. However, the career paths of female psychiatrists appear to diverge significantly from that of their male counterparts. This article reviews the pervasiveness of the trend of women being less likely to pursue active research in psychiatry. In addition, we examine the correlation between academic rank and research productivity. Methods We searched the American Medical Association's (AMA) Fellowship and Residency Electronic Interactive Database (FREIDA) to identify training programs for psychiatry. A total of 5234 psychiatrists met our inclusion criteria. The gender, academic rank, research work, and h-index of faculty members were compared. The ratio of women reaching senior ranks as compared to men was also calculated. The Scopus database was used to determine the h-index of the individuals included in this study. Data analysis was done with SPSS 22.0 Release 2013 (IBM SPSS Statistics for Windows, IBM, Armonk, NY, USA). Kruskal-Wallis and Mann-Whitney U tests were used where required, with the P-value set at less than 0.05. Results In our study sample, 2181 (42%) of the psychiatrists were women. However, according to the information obtained from the websites of 23 programs, few women reached higher ranks, full professorship, or positions such as the chairperson of a program, and only 9% of women achieved the designation of chairperson of the psychiatry department, with men representing the other 91%. Higher academic rank correlated with higher h-index. A statistically-significant difference between the genders in terms of h-index was found for the assistant professor rank as well. However, this difference was not observed at the level of an associate professor. Conclusions Despite adequate representation of women in the academic workforce in psychiatry, there appears to be a discrepancy in the research productivity of the two genders. This study highlights the need for targeted interventions to address gender disparities in academic psychiatry.

5.
Cureus ; 9(5): e1239, 2017 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-28698828

RESUMO

In the past few years, there has been increased recognition that children, who have faced traumatic incidences, can develop post-traumatic stress disorder (PTSD), just like in adults. We present a case of PTSD in a 6-year-old child who endured three surgical procedures because he was suffering from a congenital cranial stenosis (Pfeiffer) syndrome. Because of repetitive painful episodes, resulting from the syndrome, and then post-surgical complications, the child developed behavioral outbursts, hypervigilence, concentration problems, and irritability. In the past, the child was diagnosed with attention deficit hyperactivity disorder (ADHD) in the realm of his behavioral complaints, and he was already on stimulant medications for last one year. But there was no remarkable effect of pharmacotherapy on child's behavior despite increasing dosages. Ultimately the child's medical and psychiatric history was reviewed and a diagnosis of pediatric PTSD was made. Stimulant medications were discontinued and management was started on the lines of pediatric PTSD, resulting in a remarkable improvement in child's psychiatric outcome.

6.
Cureus ; 9(4): e1184, 2017 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-28638747

RESUMO

About 3.5% Americans identify themselves as lesbian, gay, or bisexual while 0.3% identify themselves as transgender. The LGBT (lesbian, gay, bisexual, and transgender) community belongs to almost every race, ethnicity, religion, age, and socioeconomic group. The LGBT youth are at a higher risk for substance use, sexually transmitted diseases (STDs), cancers, cardiovascular diseases, obesity, bullying, isolation, rejection, anxiety, depression, and suicide as compared to the general population. LGBT youth receive poor quality of care due to stigma, lack of healthcare providers' awareness, and insensitivity to the unique needs of this community. The main objective of this literature review is to highlight the challenges faced by the LGBT youth and to enhance the awareness among physicians about the existing disparities in order to provide a more comprehensive, evidence-based, and humane medical care to this community.

7.
Autism Res ; 10(3): 439-455, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27529825

RESUMO

Genome-wide expression studies of samples derived from individuals with autism spectrum disorder (ASD) and their unaffected siblings have been widely used to shed light on transcriptomic differences associated with this condition. Females have historically been under-represented in ASD genomic studies. Emerging evidence from studies of structural genetic variants and peripheral biomarkers suggest that sex-differences may exist in the biological correlates of ASD. Relatively few studies have explicitly examined whether sex-differences exist in the transcriptomic signature of ASD. The present study quantified genome-wide expression values by performing RNA sequencing on transformed lymphoblastoid cell lines and identified transcripts differentially expressed between same-sex, proximal-aged sibling pairs. We found that performing separate analyses for each sex improved our ability to detect ASD-related transcriptomic differences; we observed a larger number of dysregulated genes within our smaller set of female samples (n = 12 sibling pairs), as compared with the set of male samples (n = 24 sibling pairs), with small, but statistically significant overlap between the sexes. Permutation-based gene-set analyses and weighted gene co-expression network analyses also supported the idea that the transcriptomic signature of ASD may differ between males and females. We discuss our findings in the context of the relevant literature, underscoring the need for future ASD studies to explicitly account for differences between the sexes. Autism Res 2017, 10: 439-455. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.


Assuntos
Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/metabolismo , Linfócitos/metabolismo , Análise de Sequência de RNA/métodos , Irmãos , Transcriptoma/genética , Adolescente , Criança , Feminino , Humanos , Masculino , Fatores Sexuais
8.
Neuroimage Clin ; 15: 832-842, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28761808

RESUMO

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental syndrome that has been studied intensively in order to understand relationships between the genetic microdeletion, brain development, cognitive function, and the emergence of psychiatric symptoms. White matter microstructural abnormalities identified using diffusion tensor imaging methods have been reported to affect a variety of neuroanatomical tracts in 22q11.2DS. In the present study, we sought to combine two discovery-based approaches: (1) white matter query language was used to parcellate the brain's white matter into tracts connecting pairs of 34, bilateral cortical regions and (2) the diffusion imaging characteristics of the resulting tracts were analyzed using a machine-learning method called support vector machine in order to optimize the selection of a set of imaging features that maximally discriminated 22q11.2DS and comparison subjects. With this unique approach, we both confirmed previously-recognized 22q11.2DS-related abnormalities in the inferior longitudinal fasciculus (ILF), and identified, for the first time, 22q11.2DS-related anomalies in the middle longitudinal fascicle and the extreme capsule, which may have been overlooked in previous, hypothesis-guided studies. We further observed that, in participants with 22q11.2DS, ILF metrics were significantly associated with positive prodromal symptoms of psychosis.


Assuntos
Síndrome de DiGeorge/diagnóstico por imagem , Fibras Nervosas Mielinizadas/patologia , Adulto , Síndrome de DiGeorge/genética , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Aprendizado de Máquina , Masculino , Rede Nervosa/patologia , Testes Neuropsicológicos , Substância Branca/patologia , Adulto Jovem
9.
Cureus ; 8(11): e864, 2016 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-27924252

RESUMO

Systematic reviews are ranked very high in research and are considered the most valid form of medical evidence. They provide a complete summary of the current literature relevant to a research question and can be of immense use to medical professionals. Our goal with this paper is to conduct a narrative review of the literature about systematic reviews and outline the essential elements of a systematic review along with the limitations of such a review.

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