RESULTS: Twenty-two patients (from 16 unrelated families) were molecularly diagnosed as XLA. Genetic testing revealed fifteen distinct mutations, including four splicing mutations, four missense mutations, three nonsense mutations, three short deletions, and one large indel mutation. These mutations scattered throughout the BTK gene and mostly affected the kinase domain. All mutations including five novel mutations were predicted to be pathogenic or deleterious by in silico prediction tools. Genetic testing confirmed that eleven mothers and seven sisters were carriers for the disease, while three mutations were de novo. Flow cytometric analysis showed that thirteen patients had minimal BTK expression (0-15%) while eight patients had reduced BTK expression (16-64%). One patient was not tested for monocyte BTK expression due to insufficient sample. Pneumonia (n=13) was the most common manifestation, while Pseudomonas aeruginosa was the most frequently isolated pathogen from the patients (n=4). Mild or asymptomatic COVID-19 was reported in four patients.
CONCLUSION: This report provides the first overview of demographic, clinical, immunological and genetic data of XLA in Malaysia. The combination of flow cytometric assessment and BTK genetic analysis provides a definitive diagnosis for XLA patients, especially with atypical clinical presentation. In addition, it may also allow carrier detection and assist in genetic counselling and prenatal diagnosis.
OBJECTIVE: This study aimed to compare Foley balloon catheter placement for 6 vs 12 hours in induction of labor after 1 previous cesarean delivery.
STUDY DESIGN: A randomized controlled trial was conducted in a university hospital in Malaysia from January 2022 to February 2023. Eligible women with 1 previous cesarean delivery admitted for induction of labor were enrolled. Participants were randomized after balloon catheter insertion for 6 or 12 hours of passive ripening before balloon deflation and removal to check cervical status for amniotomy. The primary outcome was the induction of labor to delivery interval. The secondary outcomes were largely derived from the core outcome set for trials on induction of labor (Core Outcomes in Women's and Newborn Health [CROWN]). The Student t test, Mann-Whitney U test, chi-square test, and Fisher exact test were used as appropriate for the data.
RESULTS: Overall, 126 women were randomized, 63 to each intervention. The mean induction of labor to delivery intervals were 23.0 (standard deviation, ±8.9) in the 6-hour arm and 26.6 (standard deviation, ±7.1) in the 12-hour arm (mean difference, -3.5 hours; 95% confidence interval, -6.4 to -0.7; P=.02). The median induction of labor (Foley balloon catheter insertion) to Foley balloon catheter removal intervals were 6.0 hours (interquartile range, 6.0-6.3) in the 6-hour arm and 12.0 hours (interquartile range, 12.0-12.5) in the 12-hour arm (P
DESIGN: The 2011 Bangladesh Demographic and Health Survey, conducted from 8 July to 27 December 2011.
SETTING: Selected urban and rural areas of Bangladesh.
SUBJECTS: A total of 2197 ever-married women living with at least one child younger than 5 years. Exposure was determined from maternal reports of high-risk fertility behaviours. We considered three parameters, maternal age at the time of delivery, birth order and birth interval, to define the high-risk fertility behaviours. Chronic undernutrition, anaemia and the coexistence of anaemia and undernutrition among women were the outcome variables.
RESULTS: A substantial percentage of women were exposed to have a high-risk fertility pattern (41·8 %); 33·0 % were at single high-risk and 8·8 % were at multiple high-risk. After adjusting for relevant covariates, high-risk fertility behaviours were associated with increased likelihood of chronic undernutrition (adjusted relative risk; 95 % CI: 1·22; 1·03, 1·44), anaemia (1·12; 1·00, 1·25) and the coexistence of anaemia and undernutrition (1·52; 1·17, 1·98). Furthermore, multiple high-risk fertility behaviours appeared to have more profound consequences on the outcome measured.
CONCLUSIONS: Maternal high-risk fertility behaviours are shockingly frequent practices among women in Bangladesh. High-risk fertility behaviours are important predictors of the increased likelihood of women's chronic undernutrition, anaemia and the coexistence of anaemia and undernutrition.
METHODS: Fifty-four singleton GDM-complicated pregnancies were recruited and compared to 33 consecutive normal pregnancies. Two pathologists, blinded to all clinical data, reviewed and evaluated all histological samples of the placentas in accordance with Amsterdam criteria. Relevant demographic, clinical data and primary birth outcomes were recorded.
RESULTS: A myriad of histomorphological abnormalities, including chronic inflammation (n = 9/54, p = 0.031), histological chorioamnionitis (n = 23/54, p
METHODS: Ten government maternal and child health clinics in Kuala Lumpur, Malaysia will be randomly selected. Sample size of 438 first-trimester pregnant women will be followed-up until the birth of their infant. Salivary melatonin and cortisol concentration among subsample will be determined using enzyme-linked immunosorbent assay. Data on sleep quality, psychological distress and morningness/eveningness chronotype of pregnant women will be collected using validated questionnaires. Pedometer will be used to measure 5-day physical activity data. Total gestational weight gain will be determined at the end of pregnancy. Utilization of 3-day food record is to capture meal timing and nutrient intake. All measurements will be done in 2nd and 3rd trimester. Birth outcomes will be collected through clinic records and Centers for Disease Control and Prevention (CDC) Neonatal questionnaire. Infants will be followed-up at 6 and 12 months old to obtain anthropometric measurements.
DISCUSSION: There is a growing recognition of the role of maternal circadian rhythm, which entrains fetal circadian rhythms that may subsequently have long-term health consequences. The present study will identify the effect of circadian rhythm on pregnancy outcomes and infant growth in the first year of life.
OBJECTIVE: This systematic review aims to gather and appraise existing evidence on the associations between serum vitamin D concentrations during pregnancy and at birth and the development of eczema, wheezing, and RTIs in infants.
DATA SOURCES: PubMed, MEDLINE, ProQuest, Scopus, CINAHL, Cochrane Library and Academic Search Premier databases were searched systematically using specified search terms and keywords.
STUDY SELECTION: Articles on the associations between serum vitamin D concentrations during pregnancy and at birth and eczema, wheezing, and RTIs among infants (1-year-old and younger) published up to 31 March 2019 were identified, screened and retrieved.
RESULTS: From the initial 2678 articles screened, ten met the inclusion criteria and were included in the final analysis. There were mixed and conflicting results with regards to the relationship between maternal and cord blood vitamin D concentrations and the three health outcomes-eczema, wheezing and RTIs-in infants.
CONCLUSION: Current findings revealed no robust and consistent associations between vitamin D status in early life and the risk of developing eczema, wheezing and RTIs in infants. PROSPERO registration no. CRD42018093039.
RESULTS: The gene expression profile of SUB in the adult sheep was not affected by the pre- or early postnatal nutrition history. In PER, 993 and 186 differentially expressed genes (DEGs) were identified in LOW versus HIGH and NORM, respectively, but no DEG was found between HIGH and NORM. DEGs identified in the mismatched pre- and postnatal nutrition groups LOW-HCHF (101) and HIGH-HCHF (192) were largely downregulated compared to NORM-CONV. Out of 831 DEGs, 595 and 236 were up- and downregulated in HCHF versus CONV, respectively. The functional enrichment analyses revealed that transmembrane (ion) transport activities, motor activities related to cytoskeletal and spermatozoa function (microtubules and the cytoskeletal motor protein, dynein), and responsiveness to the (micro) environmental extracellular conditions, including endocrine and nervous stimuli were enriched in the DEGs of LOW versus HIGH and NORM. We confirmed that mismatched pre- and postnatal feeding was associated with long-term programming of adipose tissue remodeling and immunity-related pathways. In agreement with phenotypic measurements, early postnatal HCHF feeding targeted pathways involved in kidney cell differentiation, and mismatched LOW-HCHF sheep had specific impairments in cholesterol metabolism pathways.
CONCLUSIONS: Both pre- and postnatal malnutrition differentially programmed (patho-) physiological pathways with implications for adipose functional development associated with metabolic dysfunctions, and PER was a major target.
METHOD: We enrolled 95 women (≥ 36 weeks gestation) on their attendance for planned ECV. All participants received terbutaline tocolysis. Regional anaesthesia was not used. ECV was performed in the standard fashion after the application of the allocated aid. If the first round (maximum of 2 attempts) of ECV failed, crossover to the opposing aid was permitted.
RESULTS: 48 women were randomised to powder and 47 to gel. Self-reported procedure related median [interquartile range] pain scores (using a 10-point visual numerical rating scale VNRS; low score more pain) were 6 [5-9] vs. 8 [7-9] P = 0.03 in favor of gel. ECV was successful in 21/48 (43.8%) vs. 26/47 (55.3%) RR 0.6 95% CI 0.3-1.4 P = 0.3 for powder and gel arms respectively. Crossover to the opposing aid and a second round of ECV was performed in 13/27 (48.1%) following initial failure with powder and 4/21 (19%) after failure with gel (RR 3.9 95% CI 1.0-15 P = 0.07). ECV success rate was 5/13 (38.5%) vs. 1/4 (25%) P = 0.99 after crossover use of gel or powder respectively. Operators reported higher satisfaction score with the use of gel (high score, greater satisfaction) VNRS scores 6 [4.25-8] vs 8 [7-9] P = 0.01.
CONCLUSION: Women find gel use to be associated with less pain. The ECV success rate is not significantly different.
TRIAL REGISTRATION: The trial is registered with ISRCTN (identifier ISRCTN87231556).
METHODS: We conducted in-depth virtual interviews with pregnant women between February and April 2022. The interviews were recorded and transcribed, and data were analyzed by content analysis.
RESULTS: The majority of the participants demonstrated a commendable level of awareness regarding the signs and symptoms associated with ZIKV infection. They also exhibited a clear understanding of preventive measures, particularly emphasizing the importance of avoiding mosquito bites to minimize the risk of ZIKV transmission. However, a noteworthy gap in knowledge surfaced as a subset of participants remained uninformed about the potential for sexual transmission of ZIKV, which could lead to congenital ZIKV in pregnant women. Even among women who were cognizant of ZIKV and its potential negative health outcomes, associated with the infection, many of them did not perceive themselves to be at risk, mainly because ZIKV infection is infrequently discussed or heard of, leading to a sense of infections' rarity. While the adoption of preventive measures such as mosquito bite prevention during pregnancy was a common practice, however, prevention of sexually transmitted infections (STIs) including mosquito-borne diseases such as Zika is low. A minority of women express concerns about the sensitivity surrounding discussions and prevention of STIs within the context of marriage. Most of the participants were supportive of the provision of awareness of ZIKV infection in women during pregnancy and the involvement of men, especially in initiatives aimed at preventing transmission through sexual contact.
CONCLUSION: This study uncovered gaps in both knowledge and practices pertaining ZIKV infection among pregnant women in the aftermath of the ZIKV pandemic. The insights gleaned from our research are valuable for shaping future interventions geared towards preventing the resurgence or facilitating the sustainable eradication of ZIKV.
METHODS: American Society of Clinical Oncology convened a multidisciplinary, multinational Expert Panel to produce recommendations reflecting four resource-tiered settings. A review of existing guidelines, formal consensus-based process, and modified ADAPTE process to adapt existing guidelines was conducted. Other experts participated in formal consensus.
RESULTS: This guideline update reflects changes in evidence since the previous update. Five existing guidelines were identified and reviewed, and adapted recommendations form the evidence base. Cost-effectiveness analyses provided indirect evidence to inform consensus, which resulted in ≥ 75% agreement.
RECOMMENDATIONS: Human papillomavirus (HPV) DNA testing is recommended in all resource settings; visual inspection with acetic acid may be used in basic settings. Recommended age ranges and frequencies vary by the following setting: maximal: age 25-65 years, every 5 years; enhanced: age 30-65 years, if two consecutive negative tests at 5-year intervals, then every 10 years; limited: age 30-49 years, every 10 years; basic: age 30-49 years, one to three times per lifetime. For basic settings, visual assessment is used to determine treatment eligibility; in other settings, genotyping with cytology or cytology alone is used to determine treatment. For basic settings, treatment is recommended if abnormal triage results are obtained; in other settings, abnormal triage results followed by colposcopy is recommended. For basic settings, treatment options are thermal ablation or loop electrosurgical excision procedure; for other settings, loop electrosurgical excision procedure or ablation is recommended; with a 12-month follow-up in all settings. Women who are HIV-positive should be screened with HPV testing after diagnosis, twice as many times per lifetime as the general population. Screening is recommended at 6 weeks postpartum in basic settings; in other settings, screening is recommended at 6 months. In basic settings without mass screening, infrastructure for HPV testing, diagnosis, and treatment should be developed.Additional information is available at www.asco.org/resource-stratified-guidelines.