18 research outputs found

    Factors that contribute to delay in seeking cervical cancer diagnosis and treatment among women in Malawi

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    ABSTRACT Cervical cancer is a curable disease if diagnosed early. However, many women in Malawi seek treatment when the disease has reached an inoperable stage. This study was conducted to explore factors that contribute to delay in seeking early diagnosis and treatment of cervical cancer among women in Malawi. The study was exploratory and utilized qualitative data collection and analysis method. In-depth interviews were conducted using a semi-structured interview guide on a purposive sample of 24 women who were diagnosed of cervical cancer at the gynaecological wards of Zomba and Queen Elizabeth Central Hospitals in Malawi between July and September, 2011. Thematic content analysis was used to analyze the qualitative data. Two major themes (individual and health facility) emerged from the participants' narratives as factors that contributed to their delay in seeking early diagnosis and treatment. The individual factors included; limited knowledge on symptoms and signs and limited financial resources. The health facilities factors included; limited accessibility and unavailability of cancer screening facilities in the health centres. Results show that there is a need to strengthen the screening of cervical cancer among women in the country. In addition, there is a need to create community awareness of the signs and symptoms of cervical cancer and the merits of seeking early diagnosis and treatment

    Prevalence and architecture of de novo mutations in developmental disorders.

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    The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

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    We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

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    The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

    Factors associated with maternal mortality in Malawi: application of the three delays model.

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    The three delays model proposes that maternal mortality is associated with delays in: 1) deciding to seek care; 2) reaching the healthcare facility; and 3) receiving care. Previously, the majority of women who died were reported to have experienced type 1 and 2 delays. With increased coverage of healthcare services, we sought to explore the relative contribution of each type of delay. 151 maternal deaths were identified during a 12-month reproductive age mortality survey (RAMOS) conducted in Malawi; verbal autopsy and facility-based medical record reviews were conducted to obtain details about the circumstances surrounding each death. Using the three delays framework, data were analysed for women who had; 1) died at a healthcare facility, 2) died at home but had previously accessed care and 3) died at home and had not accessed care. 62.2% (94/151) of maternal deaths occurred in a healthcare facility and a further 21.2% (32/151) of mothers died at home after they had accessed care at a healthcare facility. More than half of all women who died at a healthcare facility (52.1%) had experienced more than one type of delay. Type 3 delays were the most significant delay for women who died at a healthcare facility or women who died at home after they had accessed care, and was identified in 96.8% of cases. Type 2 delays were experienced by 59.6% and type 1 delays by 39.7% of all women. Long waiting hours before receiving treatment at a healthcare facility, multiple delays at the time of admission, shortage of drugs, non-availability and incompetence of skilled staff were some of the major causes of type 3 delays. Distance to a healthcare facility was the main problem resulting in type 2 delays. The majority of women do try to reach health services when an emergency occurs, but type 3 delays present a major problem. Improving quality of care at healthcare facility level will help reduce maternal mortality

    Utilization of cervical cancer screening and its associated factors among women of child-bearing age in Mangochi district, Malawi: a facility-based cross-sectional study

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    Abstract Background Cervical cancer screening (CCS) uptake remains low in poor countries. Few studies have assessed individual need and health system factors which facilitate/impede use of healthcare services, including CCS utilization. Thus, we examined associations between these factors and CCS utilization among women of child-bearing age (WCBA) in Mangochi, Malawi. Methods A cross-sectional study, sampling 482 women (18–49 years) using a multi-stage sampling method was conducted in five health facilities (HFs). Data were collected using a structured interview questionnaire from June-July, 2019. Chi-squared or Fisher’s exact tests were used to compare the distribution of CCS utilization according to different independent groups. Results Our study found that 13.1% of the study participants had a history of CCS. The proportion of WCBA with a history of CCS was significantly higher among HIV + women than HIV- women and women with unknown HIV status, respectively [27.3% (33/121) vs. 8.5% (30/353) vs. 0% (0/8), χ2 = 29.18, df = 2, p < 0.001]. Significantly higher among those who had ever heard of cervical cancer (CC) than those who had not [23.0% (60/261) vs. 1.4% (3/221), χ2 = 49.28, df = 1, p < 0.001], among those who heard of CC from HFs than those who heard through radios, friends/family and other sources, respectively [31.2% (44/141) vs. 16.7% (7/42) vs. 9.3% (5/54) vs. 16.7% (4/24), χ2 = 12.62, df = 3, p = 0.006], among those with positive beliefs towards CCS than those with negative beliefs [19.2% (53/276) vs. 4.9% (10/206), χ2 = 21.37, df = 1 p < 0.001], among those recommended for CCS by health workers (HWs) than those not recommended [19.6% (53/270) vs. 4.7% (10/212), χ2 = 23.24, df = 1, p < 0.001], among those willing to be screened by male HWs than those unwilling [14.4% (60/418) vs. 4.7% (3/64), χ2 = 4.57, df = 1, p = 0.033]. Fisher’s exact test showed that CCS uptake among WCBA varied significantly by level of knowledge of CC signs/symptoms, with 66.7% (12/18) and 19.8% (48/243) among those with high-level and low-level knowledge screened, respectively (p < 0.001). Conclusions HIV status, ever heard of CC, sources of information, knowledge of CC signs/symptoms, beliefs, recommendations by HWs for CCS, willingness to be screened by male HWs were associated with CCS utilization. Thus, sensitization campaigns for CCS should be conducted to increase uptake. Further, health facilities should intensify health education on CC, including signs and symptoms to increase knowledge. In addition, CC program implementers should be willing to train both males and females to offer CCS as the clients are open to be attended to by male providers as well

    Perceptions and predictors of respectful maternity care in Malawi: A quantitative cross-sectional analysis

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    Objective: Access to high-quality, respectful care is a basic human right. A lack of respectful care during childbirth is associated with poor outcomes and can negatively influence care-seeking and maternal mental health. We aimed to describe how women perceive their experience of maternity care in Malawi. Methods: We implemented a cross-sectional survey of women (n = 660) who delivered in 25 birth facilities in four districts in Malawi in March 2020 using a validated 30-item, 90-point person-centered maternity care (PCMC) scale. We used descriptive statistics to examine women\u27s experience of care and analyzed bivariable and multivariable mixed-effects models to evaluate predictors of PCMC. Statistical models accounted for clustering of women at the facility level and included maternal age, marital status, education, parity, mother or infant complications, timing of antenatal care (ANC), provider cadre and gender, facility type and sector, and district. Results: Mean PCMC score was 57.5 (range 21–84), with the lowest score (12.4 of 27 points) in communication and autonomy. Women reported: being prohibited from having a birth companion during labor (49.4%) or delivery (60.3%); providers did not introduce themselves (81.1%); providers did not ask consent before procedures/examinations (42.4%); women felt they could not ask questions (40.9%); and were not involved in care decisions (61.5%). Few women reported being frequently abused physically (2%) or verbally (3.5%); almost all had water/electricity available ( \u3e 95%). In bivariate analyses, statistically significant positive associations were found between PCMC score and early ANC, male accompaniment to the facility, male provider, and a lack of complications; all associations remained at least potentially statistically significant in multivariable modeling. Conclusions: Physical and verbal abuse and a lack of basic amenities were rare, while a lack of communication with patients and social support were common. Maternal characteristics (like timing of ANC and maternal or newborn complications) were predictors of RMC, while facility/system factors, like facility type and sector, were not. Continued efforts to improve respectful care will require strengthening provider communication skills and encouraging patient and companion involvement in care

    Modeling pathways to describe how maternal health care providers’ mental health influences the provision of respectful maternity care in Malawi

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    Introduction: Maternal health (MH) providers may experience traumatic events, such as maternal or fetal death, that can contribute to stress and burnout. Past trauma, poor working relationships, and under-resourced environments not only affect providers’ own emotional well-being but also reduce their ability to provide respectful maternity care (RMC). Methods: Data were collected in mid-2021 as a cross-sectional survey with 302 MH providers working in 25 maternities in 3 districts in Malawi to measure burnout, depression, and post-traumatic stress disorder (PTSD). We present a pathway model describing how these factors interact and influence RMC. We used the provider-reported person-centered maternity care scale to measure RMC; the Maslach Burnout Inventory, which examines emotional exhaustion, depersonalization, and professional accomplishment; and standard validated screening tools to measure the prevalence of depression and PTSD. Results: Although levels of burnout varied, 30% of MH providers reported high levels of exhaustion, feelings of cynicism manifesting as depersonalization toward their clients (17%), and low levels of professional accomplishment (42%). Moderate to severe depression (9%) and suicidal ideation within the past 2 weeks (10%) were also recorded. Many (70%) reported experiencing an event that could trigger PTSD, and 12% reported at least 4 of 5 symptoms in the PTSD scale. Path analysis suggests that depression and emotional exhaustion negatively influence RMC, and depersonalization is mediated through depression. PTSD has no direct effect on RMC, but increased PTSD scores were associated with increased burnout and depression scores. Positive relationships with facility managers were significantly associated with increased RMC and decreased emotional exhaustion and depersonalization. Conclusion: Burnout will continue to be a challenge among MH providers. However, pragmatic approaches for improving teamwork, psychosocial, and managerial support for MH providers working in challenging environments may help mitigate burnout, improve MH provider well-being, and, in turn, RMC for women seeking MH services
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