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Italian Journal of Pediatrics Mar 2024Urinary and fecal incontinence in people dealing with spina bifida, has inevitably an influence on the quality of life. In this analysis, the degree of education on how...
Nursing management of patients dealing with spina bifida: from the prenatal diagnosis to adulthood / nursing intervention for the improvement of the impact of urinary and fecal incontinence on the quality of life of people dealing with spina bifida.
BACKGROUND
Urinary and fecal incontinence in people dealing with spina bifida, has inevitably an influence on the quality of life. In this analysis, the degree of education on how to manage incontinence and retention is studied, as well as the problems those might create and the consequential degree of autonomy and independence reached into the management of those. The main goal is to increase both nursing assistance and the education of the people dealing with spina bifida.
METHODS
A multiple-choice questionnaire with open questions, concerning the bowel and bladder management was structured by all the authors and shared by the Google Docs platform among the members of the ASBI (Associazione Spina Bifida Italia) by the secretariat of the association itself. 125 patients affected by Spina Bifida voluntarily decided to participate and complete the questionnaire. The questionnaire didn't set any limits as regards the age. For minors, its completion was made under the observation of the caregivers who gave their consent. All the authors participated to administration of the questionnaire to minors.
RESULTS
out of 125 participants, 80 were females and 25 males. The questions concerned the level of deambulation (the 35,2% was autonomous, the 30,4% were people who use wheelchairs while the 34,4% is aid-supported), urinary incontinence, with great concern to the self-catheterization technique (the 80,8% claimed to be autonomous in performing self-catheterization, unlike the remaining 19,2%) and the impact of the said incontinence on social life (the 59,2% claimed they do not feel restrained because of their bladder incontinence or retention, unlike the remaining 40,8%). Lastly, we focused on fecal constipation and incontinence (the 57,6% claimed to struggle with incontinence, the 12% claimed they don't and the 30,4% struggles with both conditions), on the ability of the people dealing with this to intervene to prevent unpleasant situations, in particular by using trans-anal irrigation (the 57,6% doesn't feel autonomous in performing it).
CONCLUSION
urinary and fecal incontinence have, of course, an impact on the quality of life of people dealing with spina bifida. Nevertheless, we can observe that it is possible to improve the quality of life of these people, letting them feel confident enough to take part in social activities, through education from an incredibly young age, from 0 up to 25 years old and over, supplied by the medical staff and mostly by the parents (previously educated by the medical staff as well).
Topics: Male; Pregnancy; Female; Humans; Fecal Incontinence; Quality of Life; Constipation; Urinary Incontinence; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 38475900
DOI: 10.1186/s13052-024-01579-z -
Nutrients Mar 2024Folate, also known as vitamin B9, facilitates the transfer of methyl groups among molecules, which is crucial for amino acid metabolism and nucleotide synthesis.... (Review)
Review
Folate, also known as vitamin B9, facilitates the transfer of methyl groups among molecules, which is crucial for amino acid metabolism and nucleotide synthesis. Adequate maternal folate supplementation has been widely acknowledged for its pivotal role in promoting cell proliferation and preventing neural tube defects. However, in the post-fortification era, there has been a rising concern regarding an excess maternal intake of folic acid (FA), the synthetic form of folate. In this review, we focused on recent advancements in understanding the influence of excess maternal FA intake on offspring. For human studies, we summarized findings from clinical trials investigating the effects of periconceptional FA intake on neurodevelopment and molecular-level changes in offspring. For studies using mouse models, we compiled the impact of high maternal FA supplementation on gene expression and behavioral changes in offspring. In summary, excessive maternal folate intake could potentially have adverse effects on offspring. Overall, we highlighted concerns regarding elevated maternal folate status in the population, providing a comprehensive perspective on the potential adverse effects of excessive maternal FA supplementation on offspring.
Topics: Animals; Mice; Humans; Dietary Supplements; Folic Acid; Neural Tube Defects; Family; Drug-Related Side Effects and Adverse Reactions
PubMed: 38474883
DOI: 10.3390/nu16050755 -
International Journal of Molecular... Mar 2024Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to...
Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to determine the maternal miRNA expression profile of women carrying fetuses with SB. Therefore, six women carrying fetuses with SB and twenty women with euploid healthy fetuses were enrolled in this study. Using NanoString technology, we evaluated the expression level of 798 miRNAs in both plasma and amniotic fluid samples. A downregulation of miR-1253, miR-1290, miR-194-5p, miR-302d-3p, miR-3144-3p, miR-4536-5p, miR-548aa + miR-548t-3p, miR-548ar-5p, miR-548n, miR-590-5p, miR-612, miR-627-5p, miR-644a, and miR-122-5p, and an upregulation of miR-320e, let-7b-5p, miR-23a-3p, miR-873-3p, and miR-30d-5p were identified in maternal amniotic fluid samples in SB when compared to the control group. The target genes of these miRNAs play a predominant role in regulating the synthesis of several biological compounds related to signaling pathways such as those regulating the pluripotency of stem cells. Moreover, the maternal plasma expression of miR-320e was increased in pregnancies with SB, and this marker could serve as a valuable non-invasive screening tool. Our results highlight the SB-specific miRNA signature and the differentially expressed miRNAs that may be involved in SB pathogenesis. Our findings emphasize the role of miRNA as a predictive factor that could potentially be useful in prenatal genetic screening for SB.
Topics: Pregnancy; Humans; Female; MicroRNAs; Spinal Diseases; Down-Regulation; Up-Regulation; Spinal Dysraphism
PubMed: 38474143
DOI: 10.3390/ijms25052896 -
Foods (Basel, Switzerland) Feb 2024A fruit leather (apple and acáchul berry) oriented toward women of reproductive age was developed. The snack was supplemented with an ingredient composed of folic acid...
A fruit leather (apple and acáchul berry) oriented toward women of reproductive age was developed. The snack was supplemented with an ingredient composed of folic acid (FA) and whey proteins (WPI) to ensure the required vitamin intake to prevent fetal neural tube defects. In order to generate a low-calorie snack, alternative sweeteners were used (stevia and maltitol). The fruit leather composition was determined. Also, an in vitro digestion process was carried out to evaluate the bioaccessibility of compounds with antioxidant capacity (AC), total polyphenols (TPCs), total monomeric anthocyanins (ACY), and FA. The quantification of FA was conducted by a microbiological method and by HPLC. The leather contained carbohydrates (70%) and antioxidant compounds, mainly from fruits. Bioaccessibility was high for AC (50%) and TPCs (90%), and low for ACY (17%). Regarding FA, bioaccessibility was higher for WPI-FA (50%) than for FA alone (37%), suggesting that WPI effectively protected the vitamin from processing and digestion. Furthermore, the product was shown to be non-cytotoxic in a Caco-2 cell model. The developed snack is an interesting option due to its low energy intake, no added sugar, and high content of bioactive compounds. Also, the supplementation with WPI-FA improved the conservation and bioaccessibility of FA.
PubMed: 38472805
DOI: 10.3390/foods13050692 -
Journal of Neurosurgery. Case Lessons Mar 2024Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine,...
BACKGROUND
Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion.
OBSERVATIONS
This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism.
LESSONS
Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.
PubMed: 38467043
DOI: 10.3171/CASE2414 -
Journal of Translational Medicine Mar 2024Neural Tube Defects (NTDs) are congenital malformations of the central nervous system resulting from the incomplete closure of the neural tube during early embryonic...
BACKGROUND
Neural Tube Defects (NTDs) are congenital malformations of the central nervous system resulting from the incomplete closure of the neural tube during early embryonic development. Neuroinflammation refers to the inflammatory response in the nervous system, typically resulting from damage to neural tissue. Immune-related processes have been identified in NTDs, however, the detailed relationship and underlying mechanisms between neuroinflammation and NTDs remain largely unclear. In this study, we utilized integrated multi-omics analysis to explore the role of neuroinflammation in NTDs and identify potential prenatal diagnostic markers using a murine model.
METHODS
Nine public datasets from Gene Expression Omnibus (GEO) and ArrayExpress were mined using integrated multi-omics analysis to characterize the molecular landscape associated with neuroinflammation in NTDs. Special attention was given to the involvement of macrophages in neuroinflammation within amniotic fluid, as well as the dynamics of macrophage polarization and their interactions with neural cells at single-cell resolution. We also used qPCR assay to validate the key TFs and candidate prenatal diagnostic genes identified through the integrated analysis in a retinoic acid-induced NTDs mouse model.
RESULTS
Our analysis indicated that neuroinflammation is a critical pathological feature of NTDs, regulated both transcriptionally and epigenetically within central nervous system tissues. Key alterations in gene expression and pathways highlighted the crucial role of STATs molecules in the JAK-STAT signaling pathway in regulating NTDs-associated neuroinflammation. Furthermore, single-cell resolution analysis revealed significant polarization of macrophages and their interaction with neural cells in amniotic fluid, underscoring their central role in mediating neuroinflammation associated with NTDs. Finally, we identified a set of six potential prenatal diagnostic genes, including FABP7, CRMP1, SCG3, SLC16A10, RNASE6 and RNASE1, which were subsequently validated in a murine NTDs model, indicating their promise as prospective markers for prenatal diagnosis of NTDs.
CONCLUSIONS
Our study emphasizes the pivotal role of neuroinflammation in the progression of NTDs and underlines the potential of specific inflammatory and neural markers as novel prenatal diagnostic tools. These findings provide important clues for further understanding the underlying mechanisms between neuroinflammation and NTDs, and offer valuable insights for the future development of prenatal diagnostics.
Topics: Pregnancy; Female; Animals; Mice; Multiomics; Neuroinflammatory Diseases; Prospective Studies; Neural Tube Defects; Central Nervous System
PubMed: 38461288
DOI: 10.1186/s12967-024-05051-8 -
Birth Defects Research Mar 2024Folic acid is a micronutrient that is effective at preventing neural tube defects (NTDs). In 2016, the FDA authorized the voluntary fortification of corn masa flour...
Update on the impact of voluntary folic acid fortification of corn masa flour on red blood cell folate concentrations-National Health and Nutrition Examination Survey, 2011-March 2020.
BACKGROUND
Folic acid is a micronutrient that is effective at preventing neural tube defects (NTDs). In 2016, the FDA authorized the voluntary fortification of corn masa flour (CMF) with folic acid to reduce disparities in NTDs among infants of women who do not regularly consume other fortified cereal grains, in particular Hispanic women of reproductive age (WRA).
METHODS
We analyzed data from the National Health and Nutrition Examination Survey (NHANES) from 2011 to March 2020 assessing the impact of voluntary fortification of CMF on the folate status of Hispanic WRA. We analyzed folic acid usual intake and red blood cell (RBC) folate concentrations among non-pregnant, non-lactating Hispanic WRA, comparing pre-fortification (2011-2016) to post-fortification (2017-March 2020) data. RBC folate concentrations were used to create model-based estimation of NTD rates.
RESULTS
The proportion of Hispanic WRA with folic acid usual intakes <400 μg/d did not change (2011-2016: 86.1% [95% Confidence Interval, CI: 83.7-88.5]; 2017-March 2020: 87.8% [95% CI: 84.8-90.7]; p = .38) nor did the proportion of Hispanic WRA with RBC folate below optimal concentrations (<748 nmol/L, 2011-2016: 16.0% [95% CI: 13.7-18.2]; 2017-March 2020: 18.1% [95% CI: 12.1-24.0]; p = 0.49). Model-based estimates of NTD rates suggest further improvements in the folate status of Hispanic WRA might prevent an additional 157 (95% Uncertainty Interval: 0, 288) NTDs/year.
CONCLUSIONS
Voluntary fortification of CMF with folic acid has yet to have a significant impact on the folate status of WRA. Continued monitoring and further research into factors such as fortified product availability, community knowledge, and awareness of folic acid benefits would inform and improve future public health interventions.
Topics: Female; Humans; Folic Acid; Nutrition Surveys; Zea mays; Flour; Food, Fortified; Neural Tube Defects; Erythrocytes
PubMed: 38457279
DOI: 10.1002/bdr2.2321 -
JAMA Network Open Mar 2024India has a disproportionately high prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high number of stillbirths, elective...
IMPORTANCE
India has a disproportionately high prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high number of stillbirths, elective pregnancy terminations, and child mortality; India contributes a large proportion of the global burden of SBA. Thirty years after folic acid was shown to be effective in reducing SBA prevalence, only about one-quarter of such births are prevented globally through cereal grain fortification.
OBJECTIVE
To determine the association of folic acid-fortified iodized salt with serum folate concentrations among nonpregnant and nonlactating women of reproductive age.
DESIGN, SETTING, AND PARTICIPANTS
This nonrandomized controlled trial using a preintervention and postintervention design was conducted in 4 rural villages in Southern India from July 1 to November 30, 2022. All households in the villages agreed to participate in the study. Preintervention and postintervention serum folate levels were analyzed among study participants at baseline and after 4 months, respectively.
INTERVENTION
Consumption of approximately 300 µg/d of folic acid using double fortified salt (folic acid plus iodine). Median serum folate concentrations were assessed at baseline and 4 months.
MAIN OUTCOMES AND MEASURES
Change in median serum folate levels between baseline and study end point as the primary outcome of the study.
RESULTS
A total of 83 nonpregnant nonlactating women aged 20 to 44 years (mean [SD] age, 30.9 [5.1] years) were eligible for the study and provided serum samples for analysis at baseline and the end point of the intervention. The median serum folate concentration increased from 14.6 (IQR, 11.2-20.6) nmol/L at baseline to 54.4 (IQR, 43.5-54.4) nmol/L at end of study, a 3.7-fold increase from baseline to study end point. Two-tailed Wilcoxon signed rank test showed the median difference in preintervention and postintervention serum folate concentrations to be highly significant (P < .001). The participants found the salt acceptable in color and taste.
CONCLUSIONS AND RELEVANCE
Use of folic acid-fortified iodized salt was associated with increased serum folate concentrations in women of reproductive age. This novel evidence can inform public health policy to accelerate SBA prevention.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT06174883.
Topics: Adult; Female; Humans; Folic Acid; Food, Fortified; Iodine; Neural Tube Defects; Sodium Chloride, Dietary; Spinal Dysraphism; Young Adult
PubMed: 38457177
DOI: 10.1001/jamanetworkopen.2024.1777 -
Human Genetics Mar 2024Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube closure. HECTD1 is an E3 ubiquitin ligase...
Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube closure. HECTD1 is an E3 ubiquitin ligase required for cranial neural tube closure in mouse models. NTDs in the Hectd1 mutant mouse model are due to the failure of cranial mesenchyme morphogenesis during neural fold elevation. Our earlier research has linked increased extracellular heat shock protein 90 (eHSP90) secretion to aberrant cranial mesenchyme morphogenesis in the Hectd1 model. Furthermore, overexpression of HECTD1 suppresses stress-induced eHSP90 secretion in cell lines. In this study, we report the identification of five rare HECTD1 missense sequence variants in NTD cases. The variants were found through targeted next-generation sequencing in a Chinese cohort of 352 NTD cases and 224 ethnically matched controls. We present data showing that HECTD1 is a highly conserved gene, extremely intolerant to loss-of-function mutations and missense changes. To evaluate the functional consequences of NTD-associated missense variants, functional assays in HEK293T cells were performed to examine protein expression and the ability of HECTD1 sequence variants to suppress eHSP90 secretion. One NTD-associated variant (A1084T) had significantly reduced expression in HEK293T cells. All five NTD-associated variants (p.M392V, p.T801I, p.I906V, p.A1084T, and p.P1835L) reduced regulation of eHSP90 secretion by HECTD1, while a putative benign variant (p.P2474L) did not. These findings are the first association of HECTD1 sequence variation with NTDs in humans.
Topics: Humans; Mutation, Missense; Ubiquitin-Protein Ligases; Neural Tube Defects; HEK293 Cells; HSP90 Heat-Shock Proteins; Female; Male; Mice; Animals
PubMed: 38451291
DOI: 10.1007/s00439-024-02647-4 -
Neuropediatrics Jun 2024Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on... (Review)
Review
Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on either side of the skull, which are caused by insufficient ossification during embryogenesis. These openings are typically abnormally large and can range from a few millimeters to several centimeters in diameter. Enlarged foramina are often discovered incidentally during anatomical or radiological examinations and in most cases left untreated unless symptoms develop. Although this calvarial defect is usually asymptomatic, it may be accompanied by neurological or vascular conditions that can have clinical significance in certain cases. FPP is an inherited disorder and arises due to mutations in either Msh homeobox 2 () or aristaless-like homeobox 4 () genes. In almost all cases, one parent is affected. Clinical findings and diagnostic imaging typically contribute to determine the diagnosis.
Topics: Humans; Homeodomain Proteins; Haploinsufficiency; Parietal Bone; Male; Female; Skull; Transcription Factors; Encephalocele
PubMed: 38447947
DOI: 10.1055/s-0044-1781465