Healthy Mother Research Articles

Making every baby count - An urgent reproductive health priority as sub-Saharan Africa continues to witness a high incidence of stillbirths.

The expected culmination of a positive pregnancy experience is a healthy mother and a bouncing live baby. Unfortunately, globally an estimated 2 million babies are still born every year, with the largest incidence of stillbirths of about 50% of the global burden occurring in sub-Saharan Africa (SSA). Significant gaps in access to quality antenatal care (ANC) and labour and delivery remain in SSA. It is estimated that only 24% of women receive at least four ANC visits in SSA. Women are prepared for labour and delivery during this period, and risk factors are identified, and potential complications can be averted. Access to labour and delivery services is critical for picking up foetal compromise. Women must deliver in facilities that can offer assisted delivery and offer foetal and neonatal resuscitation, to prevent stillbirths and early neonatal deaths. In SSA, many primary healthcare facilities are unable to offer these services, whilst higher level facilities that can offer these may be difficult to access. The majority of stillbirths are preventable if women access quality ANC and can access modern facilities for labour and delivery. Therefore, stakeholders in reproductive health must ensure access to ANC for a positive pregnancy experience.

Female Hemophilia in a Set of Triplets

Female Hemophilia In A Set Of Triplets Introduction: Hemophilia A (HA) and B (HB) are the most common inherited bleeding disorders. Gene sequencing identifies specific mutations and their associations with plasma factor levels and clinical phenotypes. Both HA and HB are X-linked recessive disorders, where the female carriers pass the gene onto their descendants. Males who inherit the mutated gene from their mothers develop the disease, whereas females are carriers due to having one normal gene, they typically do not display the characteristic features of hemophilia and have moderately low factor VIII levels of less than 40%. Female carriers may have bleeding symptoms, yet they do not experience as severe morbidities as the male hemophilia patients, due to having higher plasma factor VIII levels. Rarely female carriers can be severely affected and may have plasma factor VIII activities comparable to those with severe hemophilia. Here we are presenting a set of triplets, where the male infant and one of his sisters have severe hemophilia while the other sister is a hemophilia carrier. Methods: A set of triplets a male and two female neonates were born after 33 weeks of gestation to a healthy mother. Female neonates were dichorionic but shared the same placenta. The male infant had a circumcision at six weeks of age, which was complicated with prolonged bleeding. He was brought to the hospital and was diagnosed with severe HA. (Table.1). Infant #2 was admitted to the hospital for skin rash at age 8 weeks. She had staphylococcal scalded skin syndrome and was treated with vancomycin and cephalexin. She was noted to have prolonged bleeding from needle puncture sites. She was diagnosed with severe HA. The bleeding was controlled with tight packing. After a week of treatment her rash cleared, and she was discharged home. (Table 1). Infant #3 She was a healthy baby with no bleeding problems. (Table 1). Results and conclusions: We presented three infant-triplets-with factor VIII deficiency; infant #1 and infant #2 have severe HA. Infant #3 is an asymptomatic carrier. They all have the same mutation as their asymptomatic carrier mother. Infant #1 the male infant developed severe HA due to having the hemophilia allele on his “X” chromosome. Infant #3 a female infant is an asymptomatic carrier. She inherited the hemophilia allele on the X chromosome from her carrier mother and has an X chromosome bearing the normal allele, thus is able to produce factor VIII of 40%. Infant #2 the other female infant had severe HA, with a factor VIII activity of <0.3%. Female hemophilia is rare occurrence. Hemophilia treatment center (HTT) population profile (PP) reported that of the 1,676 females attending to HTC, 47.6% of them had less than 40% factor level, 0.48% of them had severe, 1.4% had moderate and 17.9% had mild hemophilia[Haemophilia. 2021:27(6):1037-1044. Doi:10.1111}. This can occur, in the setting of monosomy X (Turner syndrome-XO), due to having one X chromosome carrying the hemophilic gene or in the setting of compound heterozygosity: the female product of a father with hemophilia and the mother being a carrier. Similarly, hemizygosity of the hemophilic gene on both parents would result in hemophilia in their daughters. Another mechanism that plays a role in the pathogenesis of female hemophilia is the “X chromosome inactivation (XCI). This has been described as the most common cause of female hemophilia. One of the two X chromosomes in females is randomly and permanently inactivated in cells to ensure the balance with one X chromosome of males and limit the overproduction of potentially toxic gene proteins. The degree of inactivation determines the plasma levels of the gene products, in hemophilia the factor levels. The chromosome analysis of infant #2 revealed normal 46XX. Structural chromosomal abnormality is ruled out as she did not have Turner syndrome “XO”, or “45XY” with androgen insensitivity syndrome, nor did she have compound heterozygosity or hemizygosity of the X chromosome. The father had normal coagulation studies and factor VIII activity. Therefore, we believe infant #2 had extremely skewed XCI and the inactivation is skewed in favor of hemophilic X chromosome. This mechanism resulted in severe HA in this infant. The infants are now seven months old and have no bleeding problems, as infant #1 and #2 are on prophylaxis with emicizumab (Hemlibra), they both have 1% factor activity by chromogenic assay and do not have inhibitors. (Table 1)

An Atypical Somatic Calr Variant Acquired in Cis to a Germline Calr variant Induces Constitutive Signaling of the Thrombopoietin Receptor and Results in Essential Thrombocythemia

Acquired mutations in the gene encoding the endoplasmic reticulum (ER) chaperone calreticulin (CALR) are responsible for ~ 30% of essential thrombocythemia (ET) and myelofibrosis (MF) cases. Two CALR mutations, a deletion of 52 base pairs (del52) and an insertion of 5 base pairs (ins5) are the most frequent in ET and MF patients. All CALR mutations result in a +1-frameshift leading to 1) the replacement of the negatively-charged wild-type (WT) C-terminus that binds calcium in the ER by a positively-charged mutant tail including 44 residues that are common to all CALR mutant proteins and 2) the loss of the ER retention KDEL; together leading to the deregulation of calcium homeostasis. The CALR mutants are also secreted and bind to MPL in the ER but induce its constitutive dimerization and downstream signaling pathways at the cell surface. A 16-year-old girl presented with a platelet count of 797 x 10 3/mL rising to 1,228 x 10 3/mL within 2 years. After Informed Consent, we detected two atypical CALR variants in her blood cells by NGS analysis: V1 (c.1122-1125del) at 47% variant allele frequency (VAF) and V2 (c.1227-1231del) in cis of the V1 leading to V1-V2 (c.1122-1125del ; c.1227-1231del) at 5% VAF. The presence of V1 in blood and nails from the propositus and her healthy mother confirmed its germline origin. The V1-V2 was only found in the propositus at 5% in isolated monocytes and at very low levels in NK and B cells, confirming its somatic acquisition. The germline V1 induces a frameshift resulting in the replacement of the CALR WT C-terminus by the positively charged 44 residue-long C-terminal mutant tail present in del52 and ins5 and the loss of KDEL together with an insertion of 10 amino acids not present in CALR del52 nor ins5. In contrast, the V1-V2 generates a similar but shortened C-terminus containing the Arg-rich MPL binding site and KDEL (Fig. 1A). To investigate the functional impact of these CALR variants, we cloned V1 and V1-V2 with a N-terminal hemagglutinin (HA) tag as well as CALR WT and del52 as controls in a retroviral plasmid. Viral particles were produced to transduce Ba/F3 cell lines expressing MPL. Structural modeling using AlphaFold was used to investigate the role of KDEL restoration in V1-V2 in producing an oncogenic protein leading to ET. Both CALR WT and V1-V2 variants that contain the KDEL motif were detected to a similar extent in Ba/F3-MPL cell lysates. In contrast, del52 and V1, that lost the ER-retention KDEL motif, were barely detected in cell lysates. Unexpectedly, despite the presence of the KDEL motif, V1-V2 was found at a similar level than del52 at the Ba/F3-MPL cell surface. In contrast, V1 was barely detectable at the cell surface, like CALR WT. In order to investigate the role of the KDEL in V1-V2 cell surface expression, we generated a CALR WT lacking the KDEL and added the KDEL motif to del52. The presence of the KDEL motif stabilized the intracellular expression of del52 without affecting cell surface localization while the removal of the KDEL motif in CALR WT appeared to destabilize the protein and induce a slight leak to the cell surface. Structural modeling using AlphaFold predicted that the KDEL in V1-V2 structure is accessible to KDEL receptors, suggesting that the motif may be masked by the interaction of V1-V2 with MPL while trafficking to the cell surface. Indeed, cell-surface expression of V1-V2 was decreased in Ba/F3 that do not express MPL. We show that V1-V2, but not V1, constitutively activates the phosphorylation of STATs, ERK and AKT in Ba/F3-MPL. TPO further increases activation of STATs but not of AKT and ERK by V1-V2 and del52. Coherently, V1-V2, but not V1, sustained oncogenic MPL stimulation able to sustain cell autonomous Ba/F3-MPL cell proliferation (Fig. 1B). Both del52 and V1-V2 up-regulated BCL-2 mRNA. Dose-response cytotoxicity assays with the BCL-2 inhibitor venetoclax showed that these two mutants are sensitive to lower doses compared to CALR WT- or V1-expressing Ba/F3-MPL cells. This is the first report of a germline loss-of-function CALR variant (V1) expressed as an unstable protein and that might predispose to the acquisition of a somatic gain-of-function CALR variant (V1-V2) responsible for ET. The presence of KDEL in V1-V2 leads to stabilized CALR expression that does not prevent cell surface localization. Moreover, it leads to induction of MPL signaling and cytokine-independent cell growth.

The Importance of a Healthy Microbiome in Pregnancy and Infancy and Microbiota Treatment to Reverse Dysbiosis for Improved Health.

The microbiome of newborn infants during the first 1000 days, influenced early on by their mothers' microbiome health, mode of delivery and breast feeding, orchestrates the education and programming of the infant's immune system and determines in large part the general health of the infant for years. PubMed was reviewed for maternal infant microbiome health and microbiota therapy in this setting with prebiotics, probiotics, vaginal seeding and fecal microbiota transplantation (FMT). A healthy nonobese mother, vaginal delivery and strict breast feeding contribute to microbiome health in a newborn and young infant. With reduced microbiome diversity (dysbiosis) during pregnancy, cesarean delivery, prematurity, and formula feeding contribute to dysbiosis in the newborn. Microbiota therapy is an important approach to repair dysbiosis in pregnant women and their infants. Currently available probiotics can have favorable metabolic effects on mothers and infants, but these effects are variable. In research settings, reversal of infant dysbiosis can be achieved via vaginal seeding or FMT. Next generation probiotics in development should replace current probiotics and FMT. The most critical phase of human microbiome development is in the first 2-3 years of life. Preventing and treating dysbiosis during pregnancy and early life can have a profound effect on an infant's later health.

Screening, Identification and Production of L-asparagine from Lactobacillus reuteri of Healthy Mother Milk

Human breast milk (HBM) may benefit Lactobacillus reuteri, a probiotic strain isolated from a mother's breast milk. It has been shown to inhibit pathogen growth, modulate the immune system, and have strong anti-inflammatory effects. This study aimed to isolate and screen Lactobacillus reuteri for L-asparagine production. Lactobacillus reuteri were grown in submerged fermentation and liquid media and used for secondary screening by the Nesslerization method. The isolates were identified based on morphological, cultural, and biochemical tests and API 50 to identify Lactobacillus reuteri. According to the findings, L-asparaginase isolated from bacteria showed positive L-asparaginase activity on a modified medium using phenol red as an indicator dye. However, bacterial isolates showed the highest enzyme activity, exhibiting a pink zone of hydrolysis of around 7.0 cm after 48h. and 4.92 IU/mg of specific activity. These results illustrated the importance of these isolates to produce and control L-asparagine for biomedical production in the future. Keywords: Lactobacillus reuteri, L-asparagine, L-asparaginase

Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.

To describe clinical and molecular findings of two families with X-linked optic atrophy and present two new pathogenic variants in the WDR45 gene. Case series and molecular analysis of two families of Jewish Ashkenazi descent with early onset bilateral optic atrophy. Whole-exome sequencing (WES) and bioinformatic analysis were performed, followed by Sanger sequencing and segregation analysis. In both families, male siblings (three in family 1, two in family 2) had early-onset isolated bilateral optic atrophy. The sibling's healthy mother (and in the second family also one healthy sister) had a mild presentation, suggesting a carrier state and an X-linked inheritance pattern. All participants were otherwise healthy, apart from mild learning disabilities and autism spectrum disorder in two siblings of the second family. Variants in known optic atrophy genes were excluded. Analysis revealed a point variant in the WDR45 gene-a missense variant in the first family, NM_001029896.2:c.107C>A; NP_001025067.1:p.Pro36His (variant ID: 1704205), and a splice site variant in the second family, NM_001029896.2:c.236-1G>T; NP_009006.2:p.Val80Leu (variant ID: 1704204), located on Xp11.23 (OPA2 locus). Both variants are novel and predicted as pathogenic. In both families, the variant was seen with full segregation with the disease, occurring in all affected male participants and in one allele of the carrier females, as well as none of the healthy participants. Among two families with isolated X-linked optic atrophy, molecular analysis revealed novel variants in the WDR45 gene in full segregation with the disease. This gene resides within the OPA2 locus, previously described to associate with X-linked optic atrophy. Taken together, these findings suggest that certain pathogenic variants in the WDR45 gene are associated with isolated X-linked optic atrophy.

Draft genome sequence of Bifidobacterium breve DSM 32583, isolated from human milk.

Here, we describe the draft genome sequence of Bifidobacterium breve DSM 32583 isolated from human milk obtained from a healthy mother. Potentially, this B. breve strain could serve as a probiotic.

Maternal and paternal obesity differentially reprogram the ovarian mitochondrial biogenesis of F1 female rats

Obesity has harmful consequences on reproductive outcomes and the rapid increase in obesity is assumed to be influenced by epigenetics and trans-generation effects. Our study aimed to explore the effect of maternal and/or paternal obesity on the ovarian tissues of the first-generation female offspring in rats. The study was conducted on 40 adult Wistar albino rats (20 males and 20 females). Obesity was induced by feeding them an obesogenic diet for 3 months. The pregnancy was induced in the females by mating with males in four combinations: healthy mother with healthy father (control parents, CP), healthy mother with obese fathers (OF), obese mothers with healthy father (OM), and obese mother with obese father (obese parents, OP). After delivery, the female offspring at two months were sacrificed, and the blood and ovarian tissues were collected to assess the studied parameters. Our result showed differential impacts of maternal and paternal obesity on the ovarian health of the female offspring. The female offspring of obese OM or OP showed early signs of obesity. These metabolic abnormalities were associated with signs of ovarian lesions, impaired folliculogenesis, and decreased oocyte quality and also showed significant alterations in mitochondrial biogenesis, redox status, inflammation, and microRNAs expression (miR-149 and miR-494). In conclusion, altered ovarian expression of microRNAs and associated impaired mitochondrial biogenesis pathways may be the root causes for the observed intergeneration transmission of the obesogenic phenotype.

Reproductive phenology of <i>Milicia excelsa</i>, <i>Antiaris toxicaria</i>, and <i>Pouteria adolfi-friedericii</i> in South West Ethiopia

Deforestation and degradation of natural forests pose a challenge for the forest sector in Ethiopia. Gathering scientific data on the reproductive biology of selected timber species has now become important to develop seed production areas and establish forest management regimes. In this regard, this study is aimed at determining the reproductive phenology of three indigenous tree species. The time of leafing, flowering, and fruiting in the three indigenous timber tree species has been recorded for three years in South West Ethiopia. This study was conducted in natural forests of the Benchi-Maji zone (Debub Bench district). We selected three prioritized species, Milicia excelsa, Antiaris toxicaria, and Pouteria adolfi-friedericii, based on the severity of their depletion and relative timber values in the area and in the country at large. Over 20 reproductively healthy, mature, and average mother trees 10 cm wide in diameter at breast height and with easily visible crowns, located at a distance of 100 m from one another, were selected out of each species and marked with marking ink. We conducted continuous observations and recorded data on leafing, flowering, and fruiting every 15 days (twice every month). The data was then analyzed using descriptive statistics. The result of this study indicates that the actual season when the seeds of Milicia excelsa are available for collection is once a year, from January to February. The results also showed that, for Antiaris toxicaria, the fruiting time is seasonal, and seeds become available for collection from early January up to the end of February. The fruiting time or the actual season when seeds of Pouteria adolfi-friedericii become available for collection is from May to June. Low-cost technologies (to establish seed production areas and domesticate the species) are recommended to be used for seed/seedling acquisition and distribution and preferable to reduce the destruction of the selected indigenous tree species.

Treatment of ectopic pregnancy implanted on cesarea scar: cohort study 2018-2022, Lima, Peru

To describe the clinical characteristics and treatment of ectopic pregnancy arising in the cesarean section scar, as well as its complications and obstetric prognosis. Retrospective cohort study of pregnant women with the diagnosis of a scar pregnancy in accordance with Maternal-Fetal Medicine Society criteria, seen between January 2018 and March 2022 in two high complexity institutions of the social security system, located in Lima, Peru. Consecutive sampling was used. Baseline sociodemographic and clinical variables were measured, including diagnosis, type of treatment, complications and obstetric prognosis. A descriptive analysis was performed. Out of 29,919 deliveries, 17 patients were included. Of these, 41.2 % received medical management and the rest were treated surgically. Successful management with intra-gestational sac methotrexate was performed in two patients with ectopic pregnancy type 2. Four patients required total hysterectomy. Six patients became pregnant after the treatment and 4 completed their pregnancy with healthy mother and neonate pairs. Ectopic pregnancy implanted in a cesarean section scar is an infrequent occurrence for which medical and surgical management options are available with apparently good outcomes. Further studies of better methodological quality and random assignment are needed in order to help characterize the safety and effectiveness of the various therapeutic options for women with suspected scar pregnancy.

INHERITED 15Q DUPLICATION IN THREE NOT RELATED UKRAINIAN FAMILIES

Background. 15q duplication syndrome (Dup15q) is caused by the presence of an extra maternally derived copy of the Prader-Willi/Angelman critical region (PWACR) within chromosome 15q11.2-q13.1. The syndrome is clinically identifiable and characterized by intellectual disability, hypotonia, motor delays, autism spectrum disorder, epilepsy, and behavioral difficulties [1, 12]. The prevalence of Dup15q in the general population is unknown but may be as high as 1:5000 [10]. The syndrome most commonly occurs in one of two forms: an extra isodicentric 15 chromosome or an interstitial duplication [4]. Most reported cases concern de novo mutation.
 Aim. To highlight the importance of genetic testing in patients with neurodevelopmental disorders and emphasizes the need for further research to understand the underlying genetic mechanisms of Dup15q depending on the origin of the inherited duplication.
 Materials and methods. The study used next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and karyotype analysis to confirm the interstitial duplication.
 Results. We present the phenotype description and diagnostic prospects of three patients from different families who inherited interstitial 15q duplication from a phenotypically healthy mother. The patients exhibited symptoms consistent with Dup15q, including intellectual disability, delayed speech, difficulty understanding spoken language, hyperactivity, epilepsy and sleep disorders.
 Conclusion. The inherited interstitial duplication 15q is phenotypical presented only in case of maternal origin and vary in clinical presentation. We suggest as the first choice MLPA method as most cost and time effective in cases of Dup15q suspicion.

PELAKSANAAN KELAS IBU HAMIL DENGAN MODIFIKASI MENGGUNAKAN PEDOMAN TAHUN 2015 DI WILAYAH KERJA PUSKESMAS TANJUNG KARANG KOTA MATARAM

Since ten years ego, government has regulated a class program for pregnant women that it helped for encourage mother’s knowledge, attitude and behavior to improving healthy mother and fetus during perinatal period. This community service program aimed to improving knowledge of pregnant women particularly about healthy during pregnancy in work area of Puskesmas Tanjung Karang Mataram (Banjar and Sintung village). This program was conducted with some methods include pre and post test design, health education, interactive dialogue, watching video and pregnant exercise. 20 pregnant women have recruited as participants. The result of this program showed that there was significant increase the knowledge of pregnant women with mean score was 90 point after intervention. Class program of pregnant women should be conducted regularly in the future to improving and maintaining health believe of pregnant women and decrease mother’s mortality rate

#5302 REVISITING THE PATHOGENIC ROLE OF THE SLC8A1 GENE IN A FAMILY WITH A NOVEL TERMINAL GROSS DELETION IN THE UMOD GENE

Abstract Background and Aims Autosomal dominant tubulointerstitial kidney disease (ADTKD) - the third most common genetic disorder in adults with CKD - comprises a heterogeneous group of rare, hereditary kidney diseases characterized by family history of progressive chronic kidney disease (CKD) with bland urine sediment, absence of significant proteinuria and normal or small-sized kidneys. Biopsy findings are nonspecific and the gold standard for definitive diagnosis is identification of a pathogenic variant in the genes UMOD, MUC1, HNF1β, REN or SEC61A1. Method Case report. Results The proband was a 27-year-old white male referred for CKD, KDIGO stage 3a. His medical history was relevant for nocturnal enuresis until age 10; arterial hypertension diagnosed at age 19; and asymptomatic hyperuricemia, disproportional to the level of renal function impairment. Urinalysis was negative for protein, red blood cells or leucocytes and magnetic resonance imaging showed normal sized kidneys with bilateral cysts in the medulla and the corticomedullary junction. The family pedigree (Figure 1) illustrates that hyperuricemic nephropathy and CKD segregated in this family with an autosomal dominant pattern of inheritance. A custom NGS-based gene panel allowed to identify in the proband (IV-2) and his affected brother (IV-1): (i) a previously unreported large deletion in the UMOD gene, encompassing the entire exon 11, classified as “likely pathogenic”; ii) an ultra-rare nonsense SLC8A1 allele — c.16C>T p.(Arg6*), classified as “variant of uncertain clinical significance (VUS)”; (iii) an ultra-rare missense variant in the gene encoding polycystin-1 (PKD1) — c.9170T>C p.(Val3057Ala), classified as VUS. Since the latter was inherited from their healthy mother (III-1) it was considered a benign variation, similar to the more common p.Val3057Met variant affecting the same codon. Other affected family member (III-5) was heterozygous for the UMOD exon 11 deletion, which was excluded in two healthy relatives (III-1, III-4), establishing the primary diagnosis of ADTKD-UMOD. It is noteworthy that the only two gross UMOD deletions associated with ADTKD affected evolutionarily conserved residues in exon 4 [1]. The presence of the SLC8A1 p.(Arg6*) allele in patients IV-1 and IV-2, who had early clinical presentations, together with its absence in patient III-5, who had a significantly later clinical onset than her older brother (III-2), suggests that it exerted a pathogenic or disease modifier role in this family, in accordance with the predicted protein truncating effect. Indeed, genome-wide linkage analysis in 5 multiplex families with ADTKD identified involvement of chromosome 2p22.1-p21; SLC8A1 was the most likely gene but no pathogenic variants could be identified; copy number variants might have been missed [2]. Unfortunately, in our family study, we could not identify any subject segregating only the SLC8A1 p.(Arg6*) allele, which would have been indispensable to demonstrate its pathogenicity. Conclusion Herein, we report a family with hyperuricemic nephropathy where genetic testing identified a novel, likely pathogenic UMOD variant. The mechanisms underlying the pathogenicity of exon 11 deletion require further study. Additionally, the co-segregation of an ultra-rare nonsense SLC8A1 variant in some individuals was associated with earlier onset and faster progression of CKD, suggesting once again a role for SLC8A1 in the pathogenesis of ADTKD.

Methods of Using the National Idea and Moral Values in Raising Teenagers in the Spirit of Military Patriotism

In the article, it is not a secret that neighborhoods have become a leading force in the further development of human qualities such as mutual love, dignity, and generosity, which are characteristic of our society and people. First of all, it is necessary to educate our young people to become well–rounded people. It is necessary to understand the meaning of the word perfection. The state program talks about such important meanings as a healthy, well–rounded generation, creative and intellectual potential, a comprehensively developed person, a legally literate person, a healthy mother and a healthy child.

Compliance with the World Health Organization's 2016 prenatal care contact recommendation reduces the incidence rate of adverse birth outcomes among pregnant women in northern Ghana.

Children born with adverse birth outcomes (ABOs) have a greater risk of mortality, stunting, and poor cognitive development. In 2016, the World Health Organization (WHO) recommended at least eight antenatal care (ANC) contacts before delivery for a healthy mother and baby. We examined the association between compliance with this recommendation and the risk of ABOs, such as low birthweight (LBW) and preterm birth (PTB), in the Tamale Metropolitan Area of the northern region of Ghana. We conducted a cross-sectional study in the Tamale Metropolis of the northern region of Ghana. We analysed a systematic random sample of 402 postnatal women aged 15-49 drawn from five public health facilities. We gathered information electronically on their birth outcomes, specifically their birthweight and gestation at delivery, using a structured questionnaire. Information on women's background characteristics, including the number of ANC contacts made before delivery, was also collected. The association between the number of ANC contacts and ABOs was investigated using regression models. We found that 37.6% (95% CI: 32.9, 42.4) of our sample had at least eight ANC contacts before delivery. We estimated that 18.9% of babies were born prematurely and 9.0% were born LBW. ABOs were found in 22.9% (95% CI: 19.0, 27.3) of babies. A minimum of eight ANC contacts before delivery reduced the risk of ABOs (adjusted IRR = 0.43; 95% CI: 0.25, 0.73), PTB (AOR = 0.28; 95% CI: 0.14, 0.58), and LBW (AOR = 0.36; 95% CI: 0.14, 0.91). In the current study's setting, about a quarter of newborns have ABOs, jeopardising their survival, health, and development. Compliance with at least eight ANC contacts prior to birth was associated with a reduced incidence rate ratio of ABOs. However, less than four out of every ten pregnant women make at least eight ANC contacts before delivery. Efforts are needed to increase coverage of eight contacts among pregnant women before delivery to reduce the risk of ABOs in the study setting.

Pregnancy-associated systemic gene expression compared to a pre-pregnancy baseline, among healthy women with term pregnancies.

Pregnancy is known to induce extensive biological changes in the healthy mother. Little is known, however, about what these changes are at the molecular level. We have examined systemic expression changes in protein-coding genes and long non-coding (lnc) RNAs during and after pregnancy, compared to before pregnancy, among healthy women with term pregnancies. Blood samples were collected from 14 healthy women enrolled in our prospective pregnancy cohort at 7 time-points (before, during and after pregnancy). Total RNA from frozen whole blood was used for RNA sequencing. Following raw read alignment and assembly, gene-level counts were obtained for protein-coding genes and long non-coding RNAs. At each time-point, cell type proportions were estimated using deconvolution. To examine associations between pregnancy status and gene expression over time, Generalized Estimating Equation (GEE) models were fitted, adjusting for age at conception, and with and without adjusting for changes in cell type proportions. Fold-changes in expression at each trimester were examined relative to the pre-pregnancy baseline. Numerous immune-related genes demonstrated pregnancy-associated expression, in a time-dependent manner. The genes that demonstrated the largest changes in expression included several that were neutrophil-related (over-expressed) and numerous immunoglobulin genes (under-expressed). Estimated cell proportions revealed a marked increase in neutrophils, and less so of activated CD4 memory T cells, during pregnancy, while most other cell type proportions decreased or remained unchanged. Adjusting for cell type proportions in our model revealed that although most of the expression changes were due to changes in cell type proportions in the bloodstream, transcriptional regulation was also involved, especially in down-regulating expression of type I interferon inducible genes. Compared to a pre-pregnancy baseline, there were extensive systemic changes in cell type proportions, gene expression and biological pathways associated with different stages of pregnancy and postpartum among healthy women. Some were due to changes in cell type proportions and some due to gene regulation. In addition to providing insight into term pregnancy among healthy women, these findings also provide a "normal" reference for abnormal pregnancies and for autoimmune diseases that improve or worsen during pregnancy, to assess deviations from normal.

Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene

We report the long way to the correct diagnosis in two teenage sisters who developed a cardiac arrest after consuming minimal amounts of alcohol. The older girl dramatically survived two cardiac arrests at the age of 14 and 15 years. She underwent an extensive examination that revealed isolated cardiac abnormalities including fibrosis, dilated cardiomyopathy and inflammation. The younger girl also had a cardiac arrest at the age of 15 and died suddenly after consuming 1–2 beers, 3 years after her sister´s first incident. Autopsy of the heart revealed acute myocarditis without structural alterations. Multigene panel analysis (not including PPA2) showed SCN5A and CACNA1D variants in both sisters and their healthy mother. Six years later duo exome allowed the diagnosis of an autosomal recessive PPA2-related mitochondriopathy. We discuss the molecular results and clinical picture of our patients compared to other PPA2-related cases. We highlight the diagnostic contribution of multigene panels and exome analysis. The genetic diagnosis is important for medical care and for everyday life, specifically because alcohol intake can result in cardiac arrest and should be strictly avoided. Conclusion: Duo exome sequencing clarified the diagnosis of PPA2-related mitochondriopathy in two sisters with isolated cardiac features and sudden cardiac arrest triggered by minimal amounts of alcohol.What is Known:• Multigene-Panel or exome analysis is a valuable tool to identify genetic causes of hereditary cardiac arrhythmias.• Variants of unknown significance can lead to misinterpretation. PPA2-related mitochondriopathy is a very rare autosomal recessive condition that is normally fatal in infancy.What is New:• Duo exome analysis in two teeenage sisters with cardiac arrest revealed a homozygous mild PPA2 mutation as the underlying pathology restricted to the heart muscle

Occular manifestation of a case of lamellar ichthyosis

A baby full term born of LSCS to a otherwise healthy mother was referred for ophthalmology department. On ophthalmological torch light examination, the patient had equal upper and lower lid bilateral ectropion. There was missing eye lashes noted. The anterior segment evaluation was found to be within normal limit without evidence of corneal opacities. Lamellar ichthyosis otherwise termed as Collodion baby is a infrequent disease; and there is no well-known management protocol. The Patient was managed conservatively by the use of Hydroxy propyl methyl cellulose (2% w/v) eye ointment and lubricant (Carboxy methyl cellulose 0.5%) eye drops. Thus, surgical intervention was avoided and patient was managed medically on ointments and drops

Analisis Mutu Pelayanan KIA Melalui Peran Kader di Posyandu Mawar Desa Tuntungan I Medan

Currently, there are still many maternal and child health problems, especially for vulnerable groups, such as groups of pregnant women, breastfeeding, postpartum women and newborns. This is a priority for the government, where the progress of a country is also calculated from the health of mothers and children. A healthy mother will give birth to the next generation of a healthy and productive nation. This study aims to analyze the quality of health services through the role of cadres on maternal and child health at Posyandu Mawar, Tuntungan I Village, Medan, North Sumatra. The method used in this study is descriptive qualitative, which describes the data that has been obtained and uses interview techniques and compares with theories in previous studies obtained from the Google Scholar database. In this study, the results showed that there were 3 roles of cadres in improving maternal and child health, namely socialization, counseling and assistance. The role of cadres in the village has been running smoothly, but researchers found obstacles experienced by cadres in improving the welfare and health of mothers and children. This is due to the lack of community participation in posyandu activities in the village. Thus, more in-depth socialization or counseling is needed so that people's interest can increase and increase their knowledge of maternal and child health.

Positive maternal affect during mother–litter interaction is reduced in new mother rats exhibiting a depression-like phenotype

The experience of positive affect during new motherhood is considered essential for a healthy mother–infant relationship, with life-long consequences for both mother and child. Affective availability and contingent responsiveness are often compromised in mothers experiencing postpartum depression, yet how maternal affect impacts parenting is not fully understood. In this study, we used the Wistar-Kyoto (WKY) rat model of depression and ultrasonic vocalizations to examine the relationship between maternal affect and parenting. We examined the affective and behavioral response of WKY and control new mother rats during social interactions with their offspring. Our results show that WKY mothers displayed altered USV signaling accompanying substantial disturbances in their maternal caregiving. In addition, WKY mothers failed to adjust vocal frequency in coordination with offspring proximity and interaction compared to control mothers. A follow up experiment demonstrated that the administration of the adenosine A2A receptor antagonist MSX-3 ameliorated both maternal behavioral deficits and low positive affect in WKY mothers. Together, our results highlight the importance of maternal positive affect in the dyad relationship and suggest a role for the striatopallidal pathway in the affective processing of parenting.