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Journal of Neurosurgery. Case Lessons Mar 2024Anterior cervicothoracic myelomeningoceles are a rare pathology. In reported cases, treatment has included shunting, isolated resection and repair without deformity...
BACKGROUND
Anterior cervicothoracic myelomeningoceles are a rare pathology. In reported cases, treatment has included shunting, isolated resection and repair without deformity correction, or isolated deformity correction without meningocele repair. The authors describe a pediatric patient with an anterior cervicothoracic myelomeningocele presenting with progressive neurological decline, who underwent simultaneous treatment of the myelomeningocele to detether the spinal cord and achieve major correction of the scoliotic deformity.
OBSERVATIONS
A 15-year-old girl was born with C7-T1-T2 hemivertebrae and anterior cervical myelomeningocele at C7-T1. She developed progressive cervical thoracic scoliosis, left hemiparesis initially, and additional right hemiparesis eventually. She underwent surgical repair via C7, T1, and T2 corpectomies with intradural detethering of the spinal cord. The scoliosis was treated with C7-T2 Ponte osteotomies and C2-T5 posterior fixation, followed by anterior reconstruction with a titanium cage and anterior plate from C6 to T3. The myelomeningocele was adequately treated with good correction of the patient's deformity. The patient had postoperative improvement in her strength and solid arthrodesis on postoperative imaging.
LESSONS
The authors describe the successful treatment of an anterior cervicothoracic myelomeningocele and associated scoliosis in a child. This is a unique report of a combined strategy to achieve both deformity correction and detethering of the spinal cord.
PubMed: 38437675
DOI: 10.3171/CASE23710 -
Pediatrics and Neonatology May 2024
Topics: Humans; Male; Ectodermal Dysplasia; Encephalocele; Limb Deformities, Congenital; Conservative Treatment; Scalp Dermatoses; Infant, Newborn
PubMed: 38429208
DOI: 10.1016/j.pedneo.2023.10.006 -
Anesthesiology May 2024
Topics: Humans; Pentalogy of Cantrell; Anesthesia; Anesthesiology
PubMed: 38427825
DOI: 10.1097/ALN.0000000000004877 -
Pediatrics and Neonatology May 2024
Topics: Humans; Meningocele; Infant, Newborn; Female; Male; Cervical Vertebrae; Magnetic Resonance Imaging
PubMed: 38423867
DOI: 10.1016/j.pedneo.2023.12.005 -
Cognition and emotional distress in middle-aged and older adults with spina bifida myelomeningocele.PloS One 2024To investigate cognitive functioning and emotional distress in adults aged 55 to 68 years old with spina bifida myelomeningocele (SBM), both with and without...
PURPOSE
To investigate cognitive functioning and emotional distress in adults aged 55 to 68 years old with spina bifida myelomeningocele (SBM), both with and without hydrocephalus. A secondary aim was to explore the associations between psychosocial factors in relation to emotional distress.
MATERIALS AND METHODS
Cross-sectional study of eleven females and eight males with SBM, five with and twelve without hydrocephalus. Cognitive functioning was investigated with neuropsychological tests and self-report measures. Furthermore, participants completed questionnaires regarding resilience, access to social support, coping, and emotional distress. Descriptive statistics were applied, and Spearman Rho correlation coefficients were used to explore the relationships between psychosocial factors and emotional distress.
RESULTS
Eleven exhibited normal cognitive functioning. An observed difference was seen between participants with and without hydrocephalus, where six and five persons reported clinical levels of depression and anxiety, respectively. Positive perceptions of self and future were associated with lower levels of depression and anxiety.
CONCLUSION
This study adds important information about cognitive functioning and emotional distress in an understudied population. The results indicated normal cognitive functioning in adults aged 55 to 68 years with SBM without hydrocephalus. Prevalence of emotional distress was comparable with previous studies of younger adults with SBM. There is a need for longitudinal studies investigating cognition and psychological health to fully capture important aspects of the life course of SBM with and without hydrocephalus.
Topics: Female; Male; Middle Aged; Humans; Aged; Meningomyelocele; Cross-Sectional Studies; Spinal Dysraphism; Psychological Distress; Cognition; Hydrocephalus
PubMed: 38422087
DOI: 10.1371/journal.pone.0298891 -
Nature Feb 2024The loss of the tail is among the most notable anatomical changes to have occurred along the evolutionary lineage leading to humans and to the 'anthropomorphous apes',...
The loss of the tail is among the most notable anatomical changes to have occurred along the evolutionary lineage leading to humans and to the 'anthropomorphous apes', with a proposed role in contributing to human bipedalism. Yet, the genetic mechanism that facilitated tail-loss evolution in hominoids remains unknown. Here we present evidence that an individual insertion of an Alu element in the genome of the hominoid ancestor may have contributed to tail-loss evolution. We demonstrate that this Alu element-inserted into an intron of the TBXT gene-pairs with a neighbouring ancestral Alu element encoded in the reverse genomic orientation and leads to a hominoid-specific alternative splicing event. To study the effect of this splicing event, we generated multiple mouse models that express both full-length and exon-skipped isoforms of Tbxt, mimicking the expression pattern of its hominoid orthologue TBXT. Mice expressing both Tbxt isoforms exhibit a complete absence of the tail or a shortened tail depending on the relative abundance of Tbxt isoforms expressed at the embryonic tail bud. These results support the notion that the exon-skipped transcript is sufficient to induce a tail-loss phenotype. Moreover, mice expressing the exon-skipped Tbxt isoform develop neural tube defects, a condition that affects approximately 1 in 1,000 neonates in humans. Thus, tail-loss evolution may have been associated with an adaptive cost of the potential for neural tube defects, which continue to affect human health today.
Topics: Animals; Humans; Mice; Alternative Splicing; Alu Elements; Disease Models, Animal; Evolution, Molecular; Genome; Hominidae; Introns; Neural Tube Defects; Phenotype; Protein Isoforms; T-Box Domain Proteins; Tail; Exons
PubMed: 38418917
DOI: 10.1038/s41586-024-07095-8 -
Mutagenesis Apr 2024The developmental origins of health and disease hypothesis suggest early-life environment impacts health outcomes throughout the life course. In particular, epigenetic...
The developmental origins of health and disease hypothesis suggest early-life environment impacts health outcomes throughout the life course. In particular, epigenetic marks, including DNA methylation, are thought to be key mechanisms through which environmental exposures programme later-life health. Adequate maternal folate status before and during pregnancy is essential in the protection against neural tube defects, but data are emerging that suggest early-life folate exposures may also influence neurocognitive outcomes in childhood and, potentially, thereafter. Since folate is key to the supply of methyl donors for DNA methylation, we hypothesize that DNA methylation may be a mediating mechanism through which maternal folate influences neurocognitive outcomes. Using bisulphite sequencing, we measured DNA methylation of five genes (Art3, Rsp16, Tspo, Wnt16, and Pcdhb6) in the brain tissue of adult offspring of dams who were depleted of folate (n = 5, 0.4 mg folic acid/kg diet) during pregnancy (~19-21 days) and lactation (mean 22 days) compared with controls (n = 6, 2 mg folic acid/kg diet). Genes were selected as methylation of their promoters had previously been found to be altered by maternal folate intake in mice and humans across the life course, and because they have potential associations with neurocognitive outcomes. Maternal folate depletion was significantly associated with Art3 gene hypomethylation in subcortical brain tissue of adult mice at 28 weeks of age (mean decrease 6.2%, P = .03). For the other genes, no statistically significant differences were found between folate depleted and control groups. Given its association with neurocognitive outcomes, we suggest Art3 warrants further study in the context of lifecourse brain health. We have uncovered a potential biomarker that, once validated in accessible biospecimens and human context, may be useful to track the impact of early-life folate exposure on later-life neurocognitive health, and potentially be used to develop and monitor the effects of interventions.
Topics: Animals; DNA Methylation; Female; Brain; Pregnancy; Mice; Folic Acid; Prenatal Exposure Delayed Effects; Folic Acid Deficiency; Epigenesis, Genetic; Male
PubMed: 38417824
DOI: 10.1093/mutage/geae007 -
World Neurosurgery May 2024A recent community-based study from Addis Ababa identifying Neural Tube Defect (NTD) cases by ultrasound examination of pregnant women showed a higher prevalence of 17...
BACKGROUND
A recent community-based study from Addis Ababa identifying Neural Tube Defect (NTD) cases by ultrasound examination of pregnant women showed a higher prevalence of 17 per 1000 fetuses. The risk factors behind the high prevalence remain unclear.
METHODS
Altogether 891 of the 958 women participated in the ultrasound examination. Thirteen with unaffected twin pregnancies were excluded. Among 878 singleton pregnancies, 15 NTD cases were identified. Serum Folate, vitamin B12, and homocysteine levels were measured in case-mothers and a sub-set of 28 noncase mothers. Because of the modest sample size, exact logistic regression analysis was used to estimate associations between risk factors and NTDs.
RESULTS
Serum vitamin status was generally poor for participants in the study. Still, relatively higher values of folate or vitamin B12 in serum, appeared to be protective for NTD (odds ratio [OR] = 0.61 per ng/ml, 95% Confidence interval [CI]: 0.42-0.85 and OR = 0.67 per 100 pg/ml, 95% CI: 0.41-1.02, respectively). High serum homocysteine was associated with higher risk of NTD (OR = 1.3 per μmol/l, 95% CI: 1.02-1.8). Women aged 30 years or more had an OR of 3.5 (95% CI: 1.1-12) for having a NTD child, and families with NTD children had lower household income. Women in the NTD group also had more spontaneous abortions or stillbirths in previous pregnancies. Self-reported intake of folate did not appear to protect against NTDs.
CONCLUSIONS
Within this high-prevalence community, poor vitamin status was identified as a risk factor for NTDs detected at ultrasound examination. Improving food security and fortification of foods or food ingredients could be alternative measures.
Topics: Humans; Female; Risk Factors; Neural Tube Defects; Pregnancy; Adult; Ethiopia; Folic Acid; Prospective Studies; Vitamin B 12; Homocysteine; Young Adult; Ultrasonography, Prenatal; Prevalence
PubMed: 38417626
DOI: 10.1016/j.wneu.2024.02.108 -
Acta Neurochirurgica Feb 2024The purpose of our study was to examine the long-term outcomes of operated Chiari malformation type 1 (CM1) patients and evaluate whether different duraplasty techniques...
PURPOSE
The purpose of our study was to examine the long-term outcomes of operated Chiari malformation type 1 (CM1) patients and evaluate whether different duraplasty techniques affected outcome after surgery in Kuopio University Hospital catchment area.
METHODS
In this retrospective study, a total of 93 patients were diagnosed with CM1 and underwent posterior fossa decompression surgery with or without duraplasty between 2005 and 2020. All patients' medical records were examined for baseline characteristics, surgical details, and long-term follow-up data after operation.
RESULTS
The mean age of CM1 patients was 25.9 years (SD 19.2 years), with female preponderance 69/93 (73.4%). The mean clinical follow-up time was 26.5 months (SD 33.5 months). The most common presenting symptoms were headache, symptoms of extremities, and paresthesia. Posterior fossa decompression with duraplasty was performed in 87 (93.5%) patients and bony decompression in 6 (6.5%) patients. After surgery, preoperative symptoms alleviated in 84.9% (79/93) and the postoperative syringomyelia regression rate was 89.2% (33/37) of all patients. The postoperative complication rate was 34.4% (32/93), with aseptic meningitis being the most common, 25.8% (24/93). Revision surgery was required in 14% (13/93) of patients. No significant correlation between postoperative outcome and extent of dural decompression, or type of duraplasty performed was found.
CONCLUSION
This is the largest reported series of surgically treated CM1 patients in Finland. Posterior fossa decompression is an effective procedure for CM1 symptomology. Duraplasty technique had no significant difference in complication rate or long-term outcomes.
Topics: Humans; Female; Adult; Finland; Retrospective Studies; Arnold-Chiari Malformation; Headache; Hospitals, University
PubMed: 38416251
DOI: 10.1007/s00701-024-05999-y -
Tzu Chi Medical Journal 2024The objective of the study is to study the fetomaternal outcome associated with folic acid deficiency in pregnancy.
OBJECTIVES
The objective of the study is to study the fetomaternal outcome associated with folic acid deficiency in pregnancy.
MATERIALS AND METHODS
This hospital-based observational study was conducted in the Department of Obstetrics and Gynaecology at Base Hospital, Delhi Cantt, and a total of 351 participants were enrolled who were fulfilling the inclusion criteria. The plasma folic acid level of the selected patients was measured in the booking visit by automated chemiluminescence assay. The cutoff levels of folic acid were taken at 8.6 ng/mL. Based on these values, the study population was divided into two groups, one with folic acid values <8.6 ng/mL and the other with values ≥8.6 ng/mL. Plasma Vitamin B12 levels were measured to check for any concurrent deficiencies. Obstetric outcomes included first- and second-trimester miscarriages, development of anemia, gestational hypertension/preeclampsia, gestational diabetes mellitus, hypothyroidism, placental abruption, and intrauterine fetal growth restriction (FGR). Furthermore, the period of gestation at delivery, fetal weights, APGAR scores at 5 min were documented. The study also considered fetal neural tube defects, intrauterine fetal demise for data collection. Collected data were analyzed statistically to find the association of the above-mentioned outcomes with levels of folic acid.
RESULTS
The rate of preterm deliveries was significantly higher in the folic acid group with levels <8.6 ng/mL (16.94%). The incidence of small for gestational age/FGR was higher in the folic acid group with levels <8.6 ng/mL (27.11%) compared to the high folic acid group with levels ≥8.6 ng/mL (13.38%). The differences in the incidence of anemia, gestational hypertension, gestational diabetes, and preeclampsia between the two groups were not statistically significant and no cases of intrauterine fetal demise or placental abruption were observed in either group. Moreover, there was no significant difference in the relative risk of low Apgar scores at 5 min between the two groups.
CONCLUSION
The present study suggests that low folic acid levels during pregnancy are associated with a higher risk of adverse pregnancy outcomes such as anemia, miscarriages, preterm delivery, and FGR. Therefore, adherence to nutritional recommendation of folic acid supplementation during pregnancy is essential to prevent these adverse outcomes.
PubMed: 38406574
DOI: 10.4103/tcmj.tcmj_110_23