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  1. Bashir A, Khan BA, Bhatia T, Shoib S, Ali I, Bashir U, et al.
    Rev Cercet Interv Soc, 2023 Mar;80:7-17.
    PMID: 37082026 DOI: 10.33788/rcis.80.1
    In recent years mental health has emerged as a major health threat in low income countries like India. In response, mental health care has been integrated into primary health care, in turn creating a rising demand for trained and skillful mental health professionals. This study was conducted in district Budgam (J&K), India with the aim of providing training to community health workers (CHWs) and measuring the change using pre- and post-training evaluations. The pre and post tests were undertaken, assessing changes in mental health literacy at three different points of time: pre-training, post-training, and three month follow-up. Mental health literacy was assessed using the interviewer-administered Mental Health Literacy Survey. The training intervention was a five-day course based on a facilitator's manual developed specifically for community health workers in India. A total of 25 community health workers from rural areas of Budgam District (mostly Integrated Child Development Service supervisors), Health Educators and Anganwadi Workers, were engaged for the study. Findings demonstrate that the training course improved participants' ability to recognize any mental health disorders. There was a clear distinction between the level of awareness pre- and post- training. The results were statistically significant on various domains Ability to recognize disorders (Pre-post P= 0.001), Knowledge of the professional help available (Pre-post p= 0.000), Attitudes that promote the recognition or appropriate help-seeking behavior (Pre-post p= 0.000) (p<0.05). Further follow up after three months was done. The mixed findings from this study, suggesting the training course has potential to improve some aspects of mental health literacy among the CHWs, including their understanding of various mental health problems.
  2. Vielot NA, Goldberg SK, Zimet G, Smith SB, Anne McDonald M, Ramos S, et al.
    Papillomavirus Res, 2017 Jun;3:126-133.
    PMID: 28720446 DOI: 10.1016/j.pvr.2017.04.001
    INTRODUCTION: Multipurpose vaccines (MPVs) could be formulated to prevent multiple sexually transmitted infections simultaneously. Little is known about acceptability of MPVs among vaccine health care providers (HCPs) or mothers of adolescent girls.

    METHODS: 151 adolescent vaccine providers and 118 mothers of adolescent girls aged 9-14 were recruited from five geographically-diverse countries: Argentina, Malaysia, South Africa, South Korea, and Spain. We assessed providers' preferences for single-purpose human papillomavirus (HPV) vaccine versus MPVs (including HPV+herpes simplex virus (HSV)-2, HPV+HIV, or HPV+HSV-2+HIV) via quantitative surveys. Maternal MPV attitudes were assessed in four focus group discussions (FGDs) in each country.

    RESULTS: Most providers preferred MPVs over single-purpose HPV vaccination, with preference ranging from 61% in Malaysia to 96% in South Africa. HPV+HSV-2+HIV was the most preferred MPV formulation (56-82%). Overall, 53% of the mothers preferred MPVs over single-purpose HPV vaccines, with strongest support in South Africa (90%) and lowest support in South Korea (29%). Convenience and trust in the health care system were commonly-cited reasons for MPV acceptability. Safety and efficacy concerns were common barriers to accepting MPVs, though specific concerns differed by country. Across FGDs, additional safety and efficacy information on MPVs were requested, particularly from trusted sources like HCPs.

    CONCLUSIONS: Though maternal acceptability of MPVs varied by country, MPV acceptability would be enhanced by having HCPs provide parents with additional MPV vaccine safety and efficacy information. While most providers preferred MPVs, future health behavior research should identify acceptability barriers, and targeted provider interventions should equip providers to improve vaccination discussions with parents.

  3. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, et al.
    Am J Med Genet A, 2019 02;179(2):150-158.
    PMID: 30614194 DOI: 10.1002/ajmg.a.61033
    Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
  4. Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, et al.
    Am J Med Genet A, 2023 Aug;191(8):2113-2131.
    PMID: 37377026 DOI: 10.1002/ajmg.a.63247
    Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.
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