Lack Of Folic Acid Supplementation Research Articles

Determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital: a case-control study.

Birth defects (BDs) are the major causes of infant morbidity and mortality in both developed and developing countries. Regardless of their clinical importance, few studies on predisposing factors have been conducted in Ethiopia. However, due to a lack of advanced diagnostic materials, we only considered the externally visible BDs. To assess the determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital. A retrospective unmatched case-control study design was conducted from November 01 to 30, 2021. The sample size was determined by Epi Info version 7 software considering sample size calculation for an unmatched case-control study. A total of 315 participants (63 cases, and 252 controls) were selected by simple random sampling. Data were collected by an open data kit (ODK) and transported to a statical package for social sciences (SPSS) version 26 software for analysis. The bivariate followed by multivariable logistic regression analyses were done to determine the factors associated with the BD. This study showed that drinking alcohol during pregnancy (AOR = 6.575; 95% CI: 3.102,13.937), lack of antenatal care (ANC) follow-up during pregnancy (AOR = 2.794; 95% CI: 1.333, 5.859), having a history of stillbirth in a previous pregnancy (AOR = 3.967; 95% CI: 1.772, 8.881), exposure to pesticides during pregnancy (AOR = 4.840; 95% CI: 1.375, 17.034), having a history of BDs in a previous pregnancy (AOR = 4.853; 95% CI: 1.492, 15.788), and lack of folic acid supplementation during early pregnancy (AOR = 4.324; 95% CI: 2.062, 9.067) were significant determinants of externally visible BDs among perinatal deaths. In this study, alcohol use, exposure to pesticides, and lack of folic acid supplementation during pregnancy were identified as the major determinants of externally visible BDs among perinatal deaths. Thus, health education regarding the associated factors of BDs and their preventive strategies should be given to pregnant mothers.

Understanding perspectives on neural tube defect management: insights from Jordanian parents

Introduction Neural tube defects (NTDs) represent a spectrum of heterogeneous birth anomalies characterized by the incomplete closure of the neural tube. In Jordan, NTDs are estimated to occur in approximately one out of every 1000 live births. Timely identification of NTDs during the 18–22 weeks of gestation period offers parents various management options, including intrauterine NTD repair and termination of pregnancy (TOP). This study aims to assess and compare parental knowledge and perceptions of these management modalities between parents of affected children and those with healthy offspring. Materials and methods This retrospective case-control study was conducted at Jordan University Hospital (JUH) using telephone-administered questionnaires. Categorical variables were summarized using counts and percentages, while continuous variables were analyzed using mean and standard deviation. The association between exposure variables and outcomes was explored using binary logistic regression. Data analysis was performed using SPSS for Windows version 26 (SPSS Inc., Chicago, IL). Results The study sample comprised 143 participants, with 49.7% being parents of children with NTDs. The majority of NTD cases were associated with unplanned pregnancies, lack of folic acid supplementation, and postnatal diagnosis. Concerning parental knowledge of TOP in Jordan, 86% believed it to be legally permissible in certain situations. However, there was no statistically significant difference between cases and controls regarding attitudes toward TOP. While the majority of parents with NTD-affected children (88.7%) expressed a willingness to consider intrauterine surgery, this percentage decreased significantly (to 77.6%) after receiving detailed information about the procedure’s risks and benefits (p = .013). Conclusions This study represents the first case-control investigational study in Jordan focusing on parental perspectives regarding TOP versus intrauterine repair of myelomeningocele following a diagnosis of an NTD-affected fetus. Based on our findings, we urge the implementation of a national and international surveillance program for NTDs, assessing the disease burden, facilitating resource allocation toward prevention strategies, and promoting early diagnosis initiatives either by using newly suggested diagnostic biomarkers or early Antenatal ultrasonography.

Cleft lip and palate risk factors among otorhinolaryngology: Head and neck surgery patients in two hospitals.

Cleft lip and/or palate is the most prevalent type of head and neck deformity, accounting for 65% of cases. The occurrence of this condition is influenced by both genetic and environmental factors. Cleft defects are classified into 2 types: syndromic cleft lip and palate syndrome and non-syndromic cleft lip and palate syndrome. Cleft lip with or without cleft palate is the most common type of cleft defect, and the surgical repair is the primary treatment option for patients. Our study was a retrospective case-control study that included 132 cases of patients with cleft defects and 132 healthy babies without cleft defects serving as controls. Personal information, including the name, age, and origin of the participants, was collected. Additionally, we collected information on all potential risk factors, including medical history, daily habits, consanguinity between parents, and family history. Information was collected in Excel and analyzed using the Statistical Package for Social Sciences and a Chi-Square test was performed to determine the results and their relationship to cleft lip and palate. Our study identified various risk factors that have a significant association with cleft lip and palate with a P-value <5% in addition to factors that are not considered risk factors. Using relative risk analysis, we were able to rank the top 5 most significant and influential risk factors. The most impactful factor was not taking folic acid during pregnancy. The primary risk factors associated with cleft lip and palate include a family history of the condition, lack of folic acid supplementation, maternal age over 35 years, and high temperatures exceeding 39 °C. Consequently, we recommend that mothers who intend to conceive should take folic acid supplements at a dose of 0.4 to 0.8 mg during the initial trimester of pregnancy. Additionally, we advise careful monitoring of all risk factors, particularly during the first trimester of pregnancy.

Pregnancy characteristics and adverse outcomes in offspring of women with epilepsy: a prospective registry study from Mainland China.

This study aimed to explore the influencing factors of adverse outcomes in the offspring of women with epilepsy (WWE) and to analyze the changes brought about by the epilepsy knowledge popularization campaign in China (EKPCIC). This nested case-control study focused on WWE and their offspring from a female epilepsy cohort in mainland China. From January 2009 to August 2022, WWE was prospectively enrolled in 32 study centers. This study aimed to observe the health outcomes of their offspring within 1 year of age. The main outcome measure assessed the health status of the offspring within their first year of age. We aimed to analyze the effects of seizures, anti-seizure medicines (ASMs), and a lack of folic acid supplementation on adverse outcomes in the offspring of WWE and to explore the changes in perinatal management and adverse outcomes of the offspring after dissemination of the EKPCIC in 2015. Additionally, subgroup analyses were conducted to compare seizure control during pregnancy between the valproate and non-valproate groups. In total, 781 pregnancies in 695 WWE were included, of which 186 (23.69%) had adverse outcomes. The National Hospital Epilepsy Severity Scale score, number of seizures, status epilepticus, ASM type, and valproate and folic acid doses were associated with a high risk of adverse outcomes. After the EKPCIC, the use of ASMs (P = 0.013) and folic acid (P < 0.001), the seizure-free rate during pregnancy (P = 0.013), and the breastfeeding rate (P < 0.001) increased, whereas the incidence of complications during pregnancy decreased (P = 0.013). However, there was no significant difference in the incidence of adverse outcomes between the analyzed offspring pre-/post-EKPCIC. Additionally, there was no association between the frequency of seizures at different time points during pregnancy and the use of valproate (F = 1.514, P = 0.221). Possible factors influencing adverse outcomes in the offspring of WWE include seizures, type and number of ASM usage, and a lack of folic acid supplementation. Although the management of WWE during pregnancy is now more standardized, further efforts are needed to reduce adverse outcomes in offspring.

A STUDY ON CLINICAL PROFILE OF NEURAL TUBE DEFECT IN A TERTIARY CARE HOSPITAL

Background And Objectives: - Neural tube defects (NTDs) are birth defects of the central nervous system, adversely affecting the development of the brain, spinal cord, and the spinal nerves. Neural tube defects are a group of severe congenital disorders associated with substantial mortality, morbidity, long-term disability, and psychological and economic costs. Aims And Objectives Of The Study: 1. To study clinical profile of neural tube defects. 2. To study complications of neural tube defects. Materials And Methods: After obtaining ethical committee clearance and informed consent from the parents, 30 subjects diagnosed with neural tube defect, were included in the study based on inclusion criteria. A detailed history was taken from each subject's informant including, age, gender, birth details, consanguinity, antenatal visits/investigations, family history of congenital malformations. Clinical examination of each subject was performed. Relevant investigations were done such as ultrasonography, CT and MRI of brain and spine. Results: Among 30 study subject females: male ratio is 3:2, Lower socioeconomic status and consanguineous marriage were statistically significantly associated with neural tube defect with p value of 0.0001 and 0.020 respectively. Lack of Folic acid supplementation was associated with increased risk of neural tube defect with a p value of 0.001 which is statistically significant. In our study, we observed that Myelomeningocele was most common which accounted for 36.6% of cases followed by Spina bifida occulta (20%), Myelomeningocele with diastematomyelia(10%), Encephalocele(10%), Meningocele(6.6%), Diastematomyelia(6.6%), Holoprosencephaly with Tethered spinal cord(3.3%), Lipomeningomyelocele(3.3%), Anencephaly (3.3%). Within the constraints of the present study, it ca Conclusion: n be concluded Folic acid supplementation is helps to prevent neural tube

Peri-Conceptional Folic Acid Supplementation and Children’s Physical Development: A Birth Cohort Study

Maternal lack of folic acid supplementation during pregnancy may increase the risk of low birth weight and preterm delivery. However, little is known about the relationship between folic acid supplementation during pregnancy and the physical development of offspring in the later stage. This study aimed to explore the association between maternal folic acid supplementation status during pregnancy and the physical development of preschool children. A total of 3064 mother-child pairs with data on maternal folic acid supplementation status during pregnancy and children's anthropometric measurements were recruited from the Ma'anshan-Anhui Birth Cohort (MABC) in China. Maternal folic acid supplementation status during pregnancy was the main exposure, and the primary outcomes were children's growth development trajectories. Children's growth development trajectories were fitted using group-based trajectory models. The association between maternal folic acid supplementation status during pregnancy and children's growth trajectories was performed using multiple logistic regression models. After adjusting for potential confounders, we found that the absence of maternal folic acid supplementation before pregnancy and in the first trimester was significantly associated with a "high level" trajectory (trajectory 3) and a "high rising level" trajectory (trajectory 4) of BMI-Z scores in children 0 to 6 years of age (OR = 1.423, 95%CI:1.022-1.982; OR = 1.654, 95%CI: 1.024-2.671). In children aged 4 to 6 years old, a "high level" trajectory (trajectory 3) of body fat ratio was substantially related to maternal no folic acid supplementation before pregnancy and in the first trimester (OR = 1.833, 95%CI:1.037-3.240). No significant additional benefits associated with physical developmental indicators in preschool children have been observed with continued folic acid supplementation after the first trimester of gestation. Maternal non-supplementation with folic acid during pregnancy is associated with a "high level" BMI trajectory and a "high level" body fat ratio trajectory in preschool-aged children.

Correlation among maternal risk factors, gene methylation and disease severity in females with autism spectrum disorder

Aim: To detect early-life environmental factors leading to DNA methylation changes of autism spectrum disorder (ASD)-related genes in young ASD females and reveal epigenetic biomarkers of disease severity. Materials & methods: We investigated blood methylation levels of MECP2, OXTR, BDNF, RELN, BCL2, EN2and HTR1A genes in 42 ASD females. Results: Maternal gestational weight gaincorrelated with BDNF methylation levels (Bonferroni-corrected p=0.034), and lack of folic acid supplementation at periconception resulted in higher disease severity in the ASD children (Bonferroni-corrected p=0.048). RELN methylation levels were inversely correlated with disease severity (Bonferronicorrected p=0.042). Conclusion: The present study revealed gene-environment interactions and potential epigenetic biomarkers of disease severity in ASD females.

Congenital Anomalies in Neonates Admitted to a Tertiary Hospital in Southwest Ethiopia: A Cross Sectional Study.

Congenital anomalies affect 2-3% of all live births. Anomalies of the central nervous system account for the highest incidence followed by that of the cardiovascular and renal systems. There is scarcity of data in developing countries like Ethiopia. The aim of the study was determining the magnitude and type of congenital anomalies and associated factors in neonates admitted to the neonatology ward of Jimma Medical Center, Southwest Ethiopia. Institution based cross sectional study was done from March 1 to July 30, 2020. A total of 422 mother-infant pairs were enrolled into the study. Structured questionnaires were used to capture the socio-demographic, obstetric and medical characteristics of the mothers, demographic characteristics of the infants and type of congenital anomalies. Univariate and multivariate logistic regression analyses were done and results are presented as narratives and using figures and tables. Closer to one in five neonates admitted to the neonatology ward (78, 18.5%, 95%CI 14.7-22.3) had congenital anomalies; the majority (59, 13.98%) having only one type of anomaly. Anomalies of the nervous system (29, 6.87%) and gastrointestinal system (24, 5.68%) accounted for the majority of the cases. Inadequate antenatal care follow-up (p=0.018, AOR=1.9, 95%CI1.115, 3.257) and lack of folate supplementation during pregnancy (p=0.027, AOR=2.35, 95%CI 1.101, 5.015) were associated with congenital anomalies in the neonates. Congenital anomalies account for significant number of admissions. Significant association was seen between neonatal congenital anomalies and poor antenatal attendance and lack of folic acid supplementation during pregnancy.

Health behaviours in 131,182 UK women planning pregnancy

BackgroundA woman’s health at the time of conception lays the foundation for a healthy pregnancy and the lifelong health of her child. We investigated the health behaviours of UK women planning pregnancy.MethodsWe analysed survey data from the ‘Planning for Pregnancy’ online tool (Tommy’s, UK). We described all women planning pregnancy and compared the frequency of non-adherence to preconception recommendations in women who had already stopped contraception (active planners) and those who had not (non-active planners).ResultsOne hundred thirty-one thousand one hundred eighty-two women from across the UK were included, of whom 64.8% were actively planning pregnancy. Of the whole cohort, twenty percent were smokers and less than one third took folic acid supplements (31.5%). Forty two percent engaged in less than the recommended 150 min of weekly physical activity and only 53.3% consumed five portions of fruit or vegetables 4 days a week. Smokers were 1.87 times more likely to be active planners than non-smokers (95% CI 1.79–1.94), and women who took folic acid were 7 times more likely to be active planners (95% CI 6.97–7.59) compared to women who did not. Smoking, drug use and lack of folic acid supplementation were common in younger women and those who were underweight.ConclusionsThis unique survey of UK women has identified poor adherence to preconception recommendations in those planning pregnancies and supports the need for a greater public health focus on preconception health. This study provides a contemporary basis from which to inform preconception health advice and a benchmark to measure changes over time.

Predictors of congenital anomalies among newborns in Arsi zone public hospitals, Southeast Ethiopia: a case-control study

BackgroundCongenital anomaly is a partial or complete structural and/or functional defect during intrauterine life. Globally, major congenital anomalies account for 6% of all newborns among which about 94% of cases occurred in developing countries. In spite of its public health importance, very limited studies are reported in Ethiopia, and hardly any study in Arsi Zone.ObjectivesTo determine the predictors of congenital anomalies among newborns in Arsi Zone Public Hospitals, Southeast Ethiopia.MethodsA multi-center institutional-based case-control study was conducted in 418 (105 cases and 313 controls) of newborns in Arsi Zone Public Hospitals. Descriptive analysis, binary and multivariable logistic regressions were implemented.ResultsIn this study, women who have been drinking alcohol during pregnancy were 3.48 times more prone to have newborns with congenital anomalies than their counterparts (AOR = 3.48; 95% CI: 1.38, 8.74). The likelihood of having a newborn with congenital anomalies was six and four times higher for women who had a maternal illness (AOR = 6.10; 95%CI: 2.39, 15.57) and chewing khat during pregnancy (AOR = 4; 95%CI: 1.49, 10.65), respectively. Moreover, the lack of folic acid supplementation and pesticides during pregnancy were 3.25 and 4.76 times more likely to experience a newborn with congenital anomalies, respectively.ConclusionAlcohol drinking, maternal illness, khat chewing, and chemical exposure during pregnancy had a significant association with the occurrence of congenital anomalies. While, taking folic acid supplements had a protective effect. Health experts and the community should take these factors into consideration and act accordingly.

The prevalence and risk factors of spina bifida in infants and children in Taif city, Saudi Arabia

Background: Spina bifida is one of the neural tube defects substantially related to significant morbidity and mortality worldwide. A complex of environmental and genetic factors has been a risk factor for spina bifida. This study aims to assess the prevalence of spina bifida and related risk factors in Taif city, Saudi Arabia. Methods: A retrospective chart review was done at Taif Hospitals, Saudi Arabia. The study was conducted by reviewing medical files of all infants and children born with spina bifida between January 1, 2018 and December 31, 2020. All files fulfilling the inclusion criteria were reviewed for data extraction using pre-structured data extraction sheet. Results: A total of 15 infants and children with spina bifida among 43,890 live births in Taif city were identified with an incidence of 3.5 per 100,000 children. Among the 15 studied subjects, 9 were females, and the other 6 children were males. The exact of nine (60%) children with spina bifida had Myelomeningocele. Mothers ages at child delivery were 30 years or more was among 60% of the cases mothers. Two-thirds of cases mothers had no folic acid supplements during pregnancy. Conclusion: In conclusion, the current study revealed that spina bifida was around the global reported incidence, which was more common with more serious complications among females. Lack of folic acid supplementation at the periconceptional period was found to be the most reported risk factor.

Prevalence and associated factors of birth defects among newborns in sub-Saharan African countries: a systematic review and meta-analysis

IntroductionBirth defects are the most serious causes of infant mortality and disability in sub-Saharan African countries with variable magnitude. Hence, this study was aimed to determine the pooled prevalence of birth defects and its associated risk factors among newborn infants in sub-Saharan African countries.MethodsA total of 43 eligible studies were identified through literature search from Medline (PubMed), EMBASE, HINARI, Google scholar, Science Direct, Cochrane Library and other sources. Extracted data were analyzed using STATA 15.0 statistical software. A random effect meta-analysis model was used.ResultsTwenty-five studies in 9 countries showed that the pooled prevalence of birth defects was 20.40 per 1,000 births (95% CI: 17.04, 23.77). In the sub-group analysis, the highest prevalence was observed in southern Africa region with a prevalence of 43 per 1000 (95% CI: 14.89, 71.10). The most prevalent types of birth defects were musculo-skeletal system defects with a pooled prevalence of 3.90 per 1000 (95% CI: 3.11, 4.70) while the least was Down syndrome 0.62 per 1000 (95% CI: 0.40, 0.84). Lack of folic acid supplementation (95% CI: 1.95, 7.88), presence of chronic disease (95% CI: 2.00, 6.07) and intake of drugs (95% CI: 3.88, 14.66) during pregnancy were significantly associated with the birth defects.ConclusionThe prevalence of birth defects is relatively high with high degree of regional variabilities. The most common types of birth defects were musculoskeletal defects. Lack of folic acid supplementation, presence of chronic disease and intake of drugs during pregnancy were significantly associated with birth defects.

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico.

Atrioventricular septal defects (AVSDs) have been identified as intriguingly infrequent among Hispanics with Down syndrome (DS) born in the United States. The aim of this study was to evaluate the effect of possible maternal risk factors in the presence of congenital heart defects (CHDs) in Mexican infants with DS. A total of 231 live birth infants born with DS during 2009-2018 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Mexico) were ascertained in a case-control study. Patients with DS with any major CHD were included as cases and those without major CHD as controls. Potential risk factors were analyzed using logistic regression. Of eligible infants with DS, 100 (43.3%) had ≥1 major CHDs (cases) and were compared with a control group of 131 infants (56.7%) with DS without CHDs. Prevalent CHDs were ostium secundum atrial septal defects (ASDs) (46.9%), ventricular septal defects (27.3%), and AVSDs (14%). Lack of folic acid supplementation before pregnancy had a significant risk for CHDs in infants with DS (adjusted odds ratio [aORs] = 2.9 (95% confidence interval [95% CI]: 1.0-8.6) and in the analysis by subtype of CHDs, also, for the occurrence of ASDs (aOR = 11.5, 95% CI: 1.4-94.4). Almost half of the infants with DS in our sample had CHDs, being ASD the commonest subtype and AVSD the rarest. Our ethnic background alone or in concomitance with observed nutritional disadvantages seems to contribute differences in CHD subtype rates in our DS patients.

First trimester three-dimensional ultrasound diagnosis of iniencephaly. A case report with review of literature

Iniencephaly is a rare neural tube defect, characterized by the classical triad of extreme retroflexion of the head, occipital bone defect and variable rachischisis. Its etiology is not fully understood: it might arise due to anomalies of genes controlling the planar cell polarity pathway, affecting the dorso-ventral orientation of the body axis. Risk factors include low socio-economic status and lack of folic acid supplementation. In up to 90% of cases involves female gender. We report a case diagnosed prenatally at 13 weeks by ultrasonography. It was characterized by abnormal shape of the fetus, with no distinct separation between the head and the body, extreme retroflexion of the fetal head, significant shortening of the spine, hypotelorism and holoprosencephaly. Three-dimensional (3D) ultrasound reconstruction evidenced the occiput absence and the same marked retroflexion with lordotic cervical spine, but with clear, distinct, un-fussed vertebrae. The parents opted to have an elective termination of pregnancy. Pathological examination confirmed the diagnosis, showing a perfect correlation with the ultrasound findings. The anomaly is incompatible with life, and early antenatal ultrasound diagnosis is advisable. Suggestive 3D images were helpful for illustrating these issues to the parents during prenatal counseling.

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the birth of a child with Down syndrome (DS), yielding conflicting and inconclusive results. However, recent meta-analyses of those studies suggest that at least three of those polymorphisms, namely MTHFR 677C>T, MTRR 66A>G, and RFC1 80G>A, are likely to act as maternal risk factors for the birth of a child with trisomy 21, revealing also complex gene-nutrient interactions. A large-cohort study also revealed that lack of maternal folic acid supplementation at peri-conception resulted in increased risk for a DS birth due to errors occurred at maternal meiosis II in the aging oocyte, and it was shown that the methylation status of chromosome 21 peri-centromeric regions could favor recombination errors during meiosis leading to its malsegregation. In this regard, two recent case-control studies revealed association of maternal polymorphisms or haplotypes of the DNMT3B gene, coding for an enzyme required for the regulation of DNA methylation at centromeric and peri-centromeric regions of human chromosomes, with risk of having a birth with DS. Furthermore, congenital heart defects (CHD) are found in almost a half of DS births, and increasing evidence points to a possible contribution of lack of folic acid supplementation at peri-conception, maternal polymorphisms of folate pathway genes, and resulting epigenetic modifications of several genes, at the basis of their occurrence. This review summarizes available case-control studies and literature meta-analyses in order to provide a critical and up to date overview of what we currently know in this field.

Factors associated with drug survival of methotrexate and acitretin in patients with psoriasis.

Drug survival has recently become an important clinical issue in psoriasis. However, there has been little research into factors associated with drug survival of methotrexate and acitretin. The aim of this study was to investigate factors associated with drug survival of methotrexate and acitretin treatment for psoriasis. Survival analysis was performed in patients who received methotrexate or acitretin for the treatment of psoriasis, drawn from the Clalit Health Services database. Investigated factors included demographic variables, obesity, metabolic syndrome, psoriatic arthritis, administration route and folic acid supplementation. Among 6,256 patients, factors associated with treatment drop-out were: younger age (p <0.001) and psoriatic arthritis (acitretin p < 0.001). For methotrexate, metabolic syndrome (p = 0.033), intramuscular administration route of injection (p <0.001) and lack of folic acid supplementation (p <0.001) were associated with treatment drop-out. In patients with psoriasis, some ancillary factors may modify the drug survival of acitretin and methotrexate.

Identification of Risk Factors for Elevated Transaminases in Methotrexate Users Through an Electronic Health Record

To determine the predictors of elevated transaminases in an incident user cohort of older adult patients with rheumatic diseases receiving methotrexate (MTX) using elements derived from an electronic health record. Using a national, administrative database of patients seen through the Veterans Health Administration that included pharmacy and laboratory data, we performed an observational cohort study of veterans ages ≥65 years who were new users of MTX to identify risk factors for elevated transaminases. We studied 659 incident users of MTX. We found a 6% incidence of moderate (≥1.5 × the upper limit of normal) elevations in aspartate aminotransferase or alanine aminotransferase over a mean followup period of 7 months. We identified predictors of moderate transaminase elevations to include obesity (per body mass index ≥30 kg/m(2) ), total cholesterol >240 mg/dl, pre-MTX liver function test (LFT) elevations, use of biologic agents, and lack of folic acid supplementation. A patient with these characteristics and >3 comorbid conditions would be predicted to have a 90% chance of developing a moderate transaminase elevation in the 7 months after starting MTX. Moderate LFT abnormalities were uncommon in the first 7 months of MTX use, but were more likely to occur in patients with obesity, untreated high cholesterol, pre-MTX LFT elevations, biologic agent use, and lack of folic acid supplementation. Future work should aim to develop a robust, automated prediction rule for identifying patients at high risk for MTX-related liver toxicity.

Iniencephaly and holoprosencephaly: report of a rare association.

The aim of this study is to discuss a rare association of iniencephaly and holoprosencephaly and to state the importance of pregnancy termination in early gestational weeks. An 18-year-old nullipara was admitted to our perinatology service with a diagnosis of neural tube defect. Based on the ultrasonographic findings of alobar holoprosencephaly and iniencephaly during a prenatal screening, termination was recommended at the 13th week of pregnancy. However, she rejected the termination and received no prenatal care until the onset of parturition. At the time of admission, she was in her 28th week of pregnancy. Her medical and family histories were unremarkable. She delivered a stillbirth female weighing 1100 gr complicated with iniencephaly. The infant's postmortem examination showed iniencephaly associated with holoprosencephaly and cyclops. The family declined an autopsy and genetic counseling. In this case, genetics and environmental causes, including lower socioeconomic status and lack of folic acid supplementation, may be risk factors for the current disorder. In conclusion, prenatal diagnosis is possible and termination in early pregnancy should be proposed to patients with iniencephaly associated with holoprosencephaly. In addition, folic acid supplementation should be recommended to reduce the risk of contracting this disorder.

Oral Ulceration With Low Dose Methotrexate Therapy in a Psoriasis Patient: A Case Report

Methotrexate (MTX) is a well established drug used in the treatment of various neoplastic diseases. The efficacy of MTX against rheumatic diseases was first demonstrated in the early 1950s when aminopterine, a precursor of MTX, was used for rheumatoid arthritis (RA). Recently it has been increasingly used as a once-weekly, low-dose treatment of disorders such as psoriasis and rheumatoid arthritis. As a consequence it is likely that dentists will encounter patients taking this drug in general dental practice. While certain adverse effects of low-dose methotrexate therapy have been described in detail, oral complications have received little attention. Ulceration in oral mucosa can occur as a side effect at any time during the course of methotrexate therapy. This may be due to lack of folic acid supplementation or overdosage due to confusion regarding its once-weekly regime. Even though adverse effects occur in oral cavity, potential still exists for specifically preventing and reversing its toxicity. Here, we are presenting a case report of low dose methotrexate therapy (LDMTX) induced oral ulceration in a patient suffering from Psoriasis. This article also summarises the uses and pharmacology of low-dose methotrexate and the mechanisms that lead to general and oral toxicity.

Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project

Both a lack of maternal folic acid supplementation and the presence of genetic variants that reduce enzyme activity in folate pathway genes have been linked to meiotic nondisjunction of chromosome 21; however, the findings in this area of research have been inconsistent. To better understand these inconsistencies, we asked whether maternal use of a folic acid-containing supplement before conception reduces risk for chromosome 21 nondisjunction. Using questionnaire data from the National Down Syndrome Project, a population-based case-control study, we compared the use of folic acid-containing supplements among mothers of infants with full trisomy 21 due to maternal nondisjunction (n = 702) and mothers of infants born with no major birth defects (n = 983). Using logistic regression, adjusting for maternal age, race/ethnicity, and infant age at maternal interview, we found no evidence of an association between lack of folic acid supplementation and maternal nondisjunction among all case mothers (OR = 1.16; 95% CI: 0.90-1.48). In analyses stratified by meiotic stage and maternal age (<35 or ≥35 years), we found an association among older mothers experiencing meiosis II nondisjunction errors (OR = 2.00; 95% CI: 1.08-3.71). These data suggest that lack of folic acid supplementation may be associated specifically with MII errors in the aging oocyte. If confirmed, these results could account for inconsistencies among previous studies, as each study sample may vary by maternal age structure and proportion of meiotic errors.