Τετάρτη 9 Ιανουαρίου 2019

Adapting the 2015 Mother–Baby Friendly Birth Facility Guidelines for Semi-nomadic Pastoralist Communities in Laikipia and Samburu Counties of Kenya

Abstract

Purpose To adapt the 2015 International Federation of Gynecologists and Obstetricians (FIGO), International Confederation of Midwives (ICM), White Ribbon Alliance (WRA), International Pediatric Association (IPA), and WHO auspiced Guidelines on Mother–Baby Friendly Facilities to a particular sub-population; seminomadic pastoralist communities of Laikipia and Samburu Counties, Kenya. We anticipate an increased utilization of childbirth services by improving their acceptability. Description We drafted a Pastoralist Friendly Birthing Facility Checklist based on the FIGO/ICM/WRA/IPA/WHO guidelines and previous research in this context. We employed mixed methods to finalise the adaptation: a workshop with 27 local stakeholders; interviews with ten health planners and skilled birth attendants (SBAs); and ten focus group discussions (FGDs) with health committee members, community health workers, mothers and traditional birth attendants (TBAs). A facility audit of dispensaries across five group ranches was also undertaken. Assessment The final Checklist was divided into: characteristics of care and the environment; care during labour and birth; post-partum care; and community staff relationships. It was endorsed by the Ministries of Health in the relevant counties, and by women, SBAs and TBAs. No facility currently satisfies all the criteria specified in the Checklist. Conclusion The FIGO/ICM/WRA/IPA/WHO Guidelines were successfully adapted and can be used to ensure health facilities meet the needs of pastoralist women.



from Health via xlomafota13 on Inoreader http://bit.ly/2FkK087
via IFTTT

Social Support During Pregnancy Modifies the Association Between Maternal Adverse Childhood Experiences and Infant Birth Size

Abstract

Introduction Adverse childhood experiences (ACEs) can deleteriously affect health, including pregnancy and birth outcomes occurring later in life. Identification of modifiable factors during pregnancy that buffer the ill effects of adversity is warranted. Social support during pregnancy can promote better birth outcomes, yet it is unknown whether it could also mitigate perinatal risks stemming from ACEs. Thus, this study considers multiple forms of social support in pregnancy as modifiers of an ACEs and fetal growth association. Methods Data were collected from mother and infant pairs from an ongoing prospective birth cohort. Women enrolled around 27 weeks gestation and completed gold-standard assessments of ACEs and social support. Infant cephalization index scores [(head circumference /birthweight) × 100; a marker of asymmetric fetal growth] were derived. Multivariable regression models tested main effects and interaction between ACEs and social support in relation to infant cephalization. Results Higher levels of ACEs were associated with higher cephalization scores (β = 0.01, SE = 0.01, p < 0.05) whereas higher social support was associated with lower cephalization scores (β = − 0.03, SE = 0.01, p < 0.05). A significant interaction was observed showing a protective effect of social support among those with low (0 events) and moderate (1–3 events) ACEs but not among those with high ACEs (4 + events; p < 0.05). Tangible and emotional support, but not information support, contributed to the associations. Discussion Maternal ACEs can deleteriously affect birth size, yet social support during pregnancy provides some buffer from its enduring effects. Interventions designed to enhance pregnancy social support may not only improve maternal wellbeing, but may also safeguard infant health.



from Health via xlomafota13 on Inoreader http://bit.ly/2FfUYfP
via IFTTT

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late‐onset generalized epilepsy

Pathogenic CDKL5 variants cause an X‐linked dominant infantile epileptic encephalopathy, predominantly in females. This condition is characterized by an early‐onset severe mixed seizure disorder. We present a maternally inherited frameshift CDKL5 c.2809_2810insA p.(Cys937Ter) variant in a 13‐year‐old male with severe intellectual disability and late‐onset generalized epilepsy. Interestingly, the variant segregation in the family is consistent with an X‐linked recessive inheritance pattern, which has not previously been described with this gene. This variant is expected to result in truncation of some CDKL5 transcripts, which could potentially account for the later seizure onset and atypical inheritance pattern. Though the possibility of this variant not being causal cannot be completely excluded, this case adds to the variability of the documented phenotypic profile and to the debate around the role of C‐terminus variants in CDKL5‐related disease.



from Genetics via xlomafota13 on Inoreader http://bit.ly/2LYSfI7
via IFTTT

Associations between digit ratio (2D4D), mood, and autonomic stress response in healthy men

Abstract

The ratio between the length of the second (index) and the fourth (ring) finger (2D4D) is a putative biomarker of prenatal testosterone (T) exposure, with higher exposure leading to a smaller ratio. 2D4D has further been linked to mental and somatic disorders. Healthy male Swiss recruits (N = 245; Mage = 20.30 years) underwent a psychosocial stress test. Mood and salivary alpha‐amylase (sAA) were assessed before and after the stress test, while heart rate (HR) and heart rate variability (HRV) were measured continuously. Additionally, 2D4D (right: R2D4D; left: L2D4D) was determined and divided into quartile groups. Correlation analysis showed no associations between R/L2D4D and outcome measures. Comparing calculated quartiles for R2D4D, subjects in the lowest R2D4D quartile expressed trendwise (p < 0.10) lower positive and higher negative affect, significantly elevated sAA activity (p < 0.05), but no HR and HRV differences at baseline as compared to subjects in the upper three quartiles. With regard to acute stress, subjects in the lowest as compared to subjects in the upper three R2D4D quartiles showed a higher increase of negative affect and a stronger cardiac response (p < 0.05), but no alterations in positive affect and sAA activity. Young healthy men in the lowest R2D4D quartile revealed a more negative affect and increased physiological activity at baseline and in response to acute stress. An exposure to high levels of prenatal T might constitute a risk factor potentially increasing vulnerability to stress‐related disorders in men.



from Physiology via xlomafota13 on Inoreader http://bit.ly/2H3xMmH
via IFTTT

A new ‘tail’ of aquaporin‐2



from Physiology via xlomafota13 on Inoreader http://bit.ly/2CZPfby
via IFTTT

Glaucomagenesis following ionizing radiation exposure

Publication date: Available online 8 January 2019

Source: Mutation Research/Reviews in Mutation Research

Author(s): Nobuyuki Hamada, Tamara V. Azizova, Mark P. Little

Abstract

Glaucoma is a group of optic neuropathies causing optic nerve damage and visual field defects, and is one of the leading causes of blindness. Nearly a century has passed since the first report of glaucoma manifested following ionizing radiation therapy of cancers. Nevertheless, associations between glaucoma and radiation exposures, a dose response relationship, and the mechanistic underpinnings remain incompletely understood. Here we review the current knowledge on manifestations and mechanisms of radiogenic glaucoma. There is some evidence that neovascular glaucoma is manifest relatively quickly, within a few years after high-dose and high dose-rate radiotherapeutic exposure, but little evidence of excess risks of glaucoma after exposure to much lower doses or dose rates. As such, glaucoma appears to have some of the characteristics of a tissue reaction effect, with a threshold of at least 5 Gy but possibly much higher.



from Genetics via xlomafota13 on Inoreader http://bit.ly/2Fkf6wy
via IFTTT

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

Clinical Genetics A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly


from Genetics via xlomafota13 on Inoreader http://bit.ly/2VMJeqm
via IFTTT