<strong>Introduction:</strong><span style="font-family:""><span style="font-family:Verdana;"> Spina bifida is the most common neural tube defect. Uterine prolapse is an...<strong>Introduction:</strong><span style="font-family:""><span style="font-family:Verdana;"> Spina bifida is the most common neural tube defect. Uterine prolapse is an exceptional presentation of its complications. We aim to describe the clinical and progressive features of uterine prolapse in a newborn baby with spina bifida. </span><b><span style="font-family:Verdana;">Observation:</span></b><span style="font-family:Verdana;"> 19-day-old newborn. Admitted for spina bifida. The clinical examination showed an anal gaping, the presence of uterovaginal prolapse and bilateral equine varus clubfoot. The particularity </span><span style="font-family:Verdana;">was that this prolapse had a spontaneous resolution but appears with</span><span style="font-family:Verdana;"> screams. We made a compression bandage at the time of resolution. After a 6-month of follow-up, the baby is in good general condition and, there is no recurrence of the prolapse. </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> Uterine prolapse is a rare complication of spina bifida. The main therapeutic component remains the prevention of spina bifida.</span></span>展开更多
Micro RNAs（mi RNAs） are dynamically regulated during neurodevelopment,yet few reports have examined their role in spina bifida.In this study,we used an established fetal rat model of spina bifida induced by intragas...Micro RNAs（mi RNAs） are dynamically regulated during neurodevelopment,yet few reports have examined their role in spina bifida.In this study,we used an established fetal rat model of spina bifida induced by intragastrically administering olive oil-containing all-trans retinoic acid to dams on day 10 of pregnancy.Dams that received intragastric administration of all-trans retinoic acid-free olive oil served as controls.The mi RNA expression profile in the amniotic fluid of rats at 20 days of pregnancy was analyzed using an mi RNA microarray assay.Compared with that in control fetuses,the expression of mi RNA-9,mi RNA-124 a,and mi RNA-138 was significantly decreased（〉 2-fold）,whereas the expression of mi RNA-134 was significantly increased（〉 4-fold） in the amniotic fluid of rats with fetuses modeling spina bifida.These results were validated using real-time quantitative reverse-transcription polymerase chain reaction.Hierarchical clustering analysis of the microarray data showed that these differentially expressed mi RNAs could distinguish fetuses modeling spina bifida from control fetuses.Our bioinformatics analysis suggested that these differentially expressed mi RNAs were associated with many cytological pathways,including a nervous system development signaling pathway.These findings indicate that further studies are warranted examining the role of mi RNAs through their regulation of a variety of cell functional pathways in the pathogenesis of spina bifida.Such studies may provide novel targets for the early diagnosis and treatment of spina bifida.展开更多
The aim of the study was to investigate the functional performance in children with spina bifida, using the Pediatric Evaluation of Disability Inventory （PEDI） to look into capacity of twen- ty-eight children with s...The aim of the study was to investigate the functional performance in children with spina bifida, using the Pediatric Evaluation of Disability Inventory （PEDI） to look into capacity of twen- ty-eight children with spina bifida with lesions at different levels in different dimensions of self- care, mobility and social function. Mean age of the patients was 3.5 ± 2.3 （1-10） years. In the muscle test carried out, 13 patients （44.8%） had no movements including pelvic elevation in lower extremity muscles and they were at level 5. Sixteen patients （54%） were non-ambulatory according to the Hoofer ambulation classification. Raw and scale scores in the self-care, mobil- ity and social function domains both in the functional skill scale and in the caregiver scale were found to be lower compared to the data of the normal population. A statistically significant correlation was observed in the self-care values of the Functional Skills Scales and the Caregiver Assistance Scale measurements, which was positive for age and negative for Functional Ambu- lation Scale and muscle test （P 〈 0.05）. A positive relation was found between the Functional Skills Scales-mobility area and age while a negative relation was observed between Functional Ambulation Scale and muscle test （P 〈 0.005）. A negative relation was also found between Care- giver Assistance Scale-mobility and Functional Ambulation Scale and muscle test （P 〈 0.005）. In our study, the functional performance of the children was found to be low. Low-level lesions, encouraging muscular strength and independence in mobility are all very important factors for functional independence.展开更多
Environmental and genetic factors influence the occurrence of neural tube defects, such as spina bifida. Specific disease expression patterns will help to elucidate the pathogenesis of disease. However, results obtain...Environmental and genetic factors influence the occurrence of neural tube defects, such as spina bifida. Specific disease expression patterns will help to elucidate the pathogenesis of disease. However, results obtained from animal models, which often exhibit organism specificity, do not fully explain the mechanisms of human spina bifida onset. In the present study, three embryos with a gestational age of approximately 17 weeks and a confirmed diagnosis of spina bifida, as well as 3 age-matched normal embryos, were obtained from abortions. Fetal brain stem tissues were dissected for RNA isolation, and microarray analyses were conducted to examine profiles of gene expression in brain stems of spina bifida and normal embryos using Affymetrix HG-U133A 2.0 GeneChip arrays. Of the 14 500 gene transcripts examined, a total of 182 genes exhibited at least 2.5-fold change in expression, including 140 upregulated and 42 downregulated genes. These genes were placed into 19 main functional categories according to the Gene Ontology Consortium database for biological functions. Of the 182 altered genes, approximately 50% were involved in cellular apoptosis, growth, adhesion, cell cycle, stress, DNA replication and repair, signal transduction, nervous system development, oxidoreduction, immune responses, and regulation of gene transcription. Gene expression in multiple biological pathways was altered in the brain stem of human spina bifida embryos.展开更多
Spina bifida, or spinal dysraphism, is a malformative pathology related to an anomaly in the development of the nervous system, occurring during embryogenesis. The neural tube does not close properly around the 28th d...Spina bifida, or spinal dysraphism, is a malformative pathology related to an anomaly in the development of the nervous system, occurring during embryogenesis. The neural tube does not close properly around the 28th day of life and affects the development of the spinal column and spinal cord. Spina bifida is characterised by damage to the nervous system and will generate handicaps and damage of varying degrees: neurological motor, sensory, cognitive, genito-phincter (bladder and anorectal) deficits with consequences for the quality of life of these people. The literature describes the association between spinal dysraphism and genital prolapse. However, genital prolapse is an exceptional and rare entity in newborns. We report the observations of two newborns: the first case of a newborn born at term, at 7 days of age, who presented a prolapse of the uterine cervix in association with myelomeningocele, without any neuromuscular repercussions, and the second case of a newborn at 10 days of age, presenting with a lumbosacral spina bifida and a uterine prolapse. They benefited from conservative medical treatment characterised by manual reduction of the prolapse in both cases with a favourable evolution. In the case of spina bifida, a cure of myelomeningocele was performed surgically with simple postoperative course.展开更多
O6-methylguanine DNA methyltransferase(MGMT), a DNA repair enzyme, has been reported in some congenital malformations, but it is less frequently reported in neural tube defects. This study investigated MGMT mRNA expre...O6-methylguanine DNA methyltransferase(MGMT), a DNA repair enzyme, has been reported in some congenital malformations, but it is less frequently reported in neural tube defects. This study investigated MGMT mRNA expression and methylation levels in the early embryo and in different embryonic stages, as well as the relationship between MGMT and neural tube defects. Spina bifida aperta was induced in rats by a single intragastric administration of all-trans retinoic acid on embryonic day(E) 10, whereas normal control rats received the same amount of olive oil on the same embryonic day. DNA damage was assessed by detecting γ-H2 A.X in spina bifida aperta rats. Real time-polymerase chain reaction was used to examine mRNA expression of MGMT in normal control and spina bifida aperta rats. In normal controls, the MGMT mRNA expression decreased with increasing embryonic days, and was remarkably reduced from E11 to E14, reaching a minimum at E18. In the spina bifida aperta model, γ-H2 A.X protein expression was increased, and mRNA expression of MGMT was markedly decreased on E14, E16, and E18. Bisulfite sequencing polymerase chain reaction for MGMT promoter methylation demonstrated that almost all CpG sites in the MGMT promoter remained unmethylated in both spina bifida aperta rats and normal controls, and there was no significant difference in methylation level between the two groups on either E14 or E18. Our results show that DNA damage occurs in spina bifida aperta rats. The mRNA expression of MGMT is downregulated, and this downregulation is independent of promoter DNA methylation.展开更多
Background: An individual with SB needs to deal with long standing illnesses and is often viewed as having a disability that needs to be compensated for. This medical condition is an example of malfunction of the body...Background: An individual with SB needs to deal with long standing illnesses and is often viewed as having a disability that needs to be compensated for. This medical condition is an example of malfunction of the body, though congenital, and could be seen as an outside-perspective to the individual human being. It is important that the required medical treatment is offered to an individual with SB, but such medical treatment alone would not encompass the full health spectrum for an individual in this specific situation. A question to be raised is how this specific group of individuals experience health. Aim: To describe the experience of daily life for young adults with SB through a theoretical lens of health. Method: This qualitative study was conducted using a reflective lifeworld approach with an interpretive part. In the lifeworld theory it is understood that all our doings, feelings and thoughts are experienced through the lifeworld. The interview questions were open and non-standardised. Findings: The main theme was formulated as The contradictory path towards well-being in daily life, and was constructed on the sub-themes: Not understanding and taking responsibility for the lower body, Having people standing behind me—not being allowed to grow up myself, Compared to people like me, I usually do well, I thought it would work out by itself, and A lack of structure in daily life. Conclusion: The study indicates that young adults with SB have a diminished health and well-being and that they have a contradictory path to travel towards independency which is of great concern for this group of individuals. Differences in views of independence constitute a problem and it is important for health care providers to be aware of the individuals’ perspective on independence. This notion is something that needs to be taken into account when designing support programs for these individuals.展开更多
Background: The optimal time to closure of a newborn with a myelomeningocele has been the focus of a number of evaluations. The Timing of primary surgery has received significant attention due to its relationship to r...Background: The optimal time to closure of a newborn with a myelomeningocele has been the focus of a number of evaluations. The Timing of primary surgery has received significant attention due to its relationship to repair-site infection that can lead to increased morbidity and prolonged hospital stays. It is on this basis that recommendations have utilized 48 - 72 hours post birth as ideal time of closure. This is not only prevent infection at the site but also prevent ventriculitis and neural structure damage. We therefore, hypothesized an increase in wound infection rates in those patients with delays in myelomeningocele repair. Methods: We retrospectively reviewed the records of 103 children with myelomeningocele treated between 2016 and 2023. At discharge the patients were followed up at the post-operative clinic visit 2 weeks later. Children were assigned to 1 of 2 groups, those who underwent primary neurosurgical repair within 72 hours of delivery (Group 1) and those undergoing repair after 72 hours (Group 2). We compared the infection rates. Results: 103 children who underwent myelomeningocele repair were identified, with a median time from birth to treatment of 1 day. Eight (7.8 %) patients were noted to have post-repair surgical site complications. There was no significant difference in rates of infection between Group 1 and Group 2 repair times. The presence of infection was associated increased length of stay when compared to neonates without infection. Conclusion: In children with myelomeningocele, the timing of primary neurosurgical repair appears not to have a significant impact on surgical site infection. Closure of the spinal lesion within the first 72 hours of life may be more favorable for neural damage prevention. These results suggest that early myelomeningocele repair may not impart significantly on the rate of wound-site infection.展开更多
Cervical meningoceles are the least common forms of spina bifida, representing between 4% to 8% of all spinal dysraphisms. They are not accompanied by neurological deficit in childhood but attached cord syndrome can o...Cervical meningoceles are the least common forms of spina bifida, representing between 4% to 8% of all spinal dysraphisms. They are not accompanied by neurological deficit in childhood but attached cord syndrome can occur with growth. Surgical treatment, in addition to avoiding rupture and correcting the aesthetic damage, will preserve neurological functions. We report 2 cases that we took care of. They are a 5-month-old infant and a 3-year-old girl. The first presented a 7 cm rounded meningocele pedunculated through the C1 lamina defect. The second presented an 8.6 cm polylobed meningocele pedunculated through the C2 lamina defect. They both underwent surgery with good progress.展开更多
文摘<strong>Introduction:</strong><span style="font-family:""><span style="font-family:Verdana;"> Spina bifida is the most common neural tube defect. Uterine prolapse is an exceptional presentation of its complications. We aim to describe the clinical and progressive features of uterine prolapse in a newborn baby with spina bifida. </span><b><span style="font-family:Verdana;">Observation:</span></b><span style="font-family:Verdana;"> 19-day-old newborn. Admitted for spina bifida. The clinical examination showed an anal gaping, the presence of uterovaginal prolapse and bilateral equine varus clubfoot. The particularity </span><span style="font-family:Verdana;">was that this prolapse had a spontaneous resolution but appears with</span><span style="font-family:Verdana;"> screams. We made a compression bandage at the time of resolution. After a 6-month of follow-up, the baby is in good general condition and, there is no recurrence of the prolapse. </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> Uterine prolapse is a rare complication of spina bifida. The main therapeutic component remains the prevention of spina bifida.</span></span>
文摘Micro RNAs（mi RNAs） are dynamically regulated during neurodevelopment,yet few reports have examined their role in spina bifida.In this study,we used an established fetal rat model of spina bifida induced by intragastrically administering olive oil-containing all-trans retinoic acid to dams on day 10 of pregnancy.Dams that received intragastric administration of all-trans retinoic acid-free olive oil served as controls.The mi RNA expression profile in the amniotic fluid of rats at 20 days of pregnancy was analyzed using an mi RNA microarray assay.Compared with that in control fetuses,the expression of mi RNA-9,mi RNA-124 a,and mi RNA-138 was significantly decreased（〉 2-fold）,whereas the expression of mi RNA-134 was significantly increased（〉 4-fold） in the amniotic fluid of rats with fetuses modeling spina bifida.These results were validated using real-time quantitative reverse-transcription polymerase chain reaction.Hierarchical clustering analysis of the microarray data showed that these differentially expressed mi RNAs could distinguish fetuses modeling spina bifida from control fetuses.Our bioinformatics analysis suggested that these differentially expressed mi RNAs were associated with many cytological pathways,including a nervous system development signaling pathway.These findings indicate that further studies are warranted examining the role of mi RNAs through their regulation of a variety of cell functional pathways in the pathogenesis of spina bifida.Such studies may provide novel targets for the early diagnosis and treatment of spina bifida.
文摘The aim of the study was to investigate the functional performance in children with spina bifida, using the Pediatric Evaluation of Disability Inventory （PEDI） to look into capacity of twen- ty-eight children with spina bifida with lesions at different levels in different dimensions of self- care, mobility and social function. Mean age of the patients was 3.5 ± 2.3 （1-10） years. In the muscle test carried out, 13 patients （44.8%） had no movements including pelvic elevation in lower extremity muscles and they were at level 5. Sixteen patients （54%） were non-ambulatory according to the Hoofer ambulation classification. Raw and scale scores in the self-care, mobil- ity and social function domains both in the functional skill scale and in the caregiver scale were found to be lower compared to the data of the normal population. A statistically significant correlation was observed in the self-care values of the Functional Skills Scales and the Caregiver Assistance Scale measurements, which was positive for age and negative for Functional Ambu- lation Scale and muscle test （P 〈 0.05）. A positive relation was found between the Functional Skills Scales-mobility area and age while a negative relation was observed between Functional Ambulation Scale and muscle test （P 〈 0.005）. A negative relation was also found between Care- giver Assistance Scale-mobility and Functional Ambulation Scale and muscle test （P 〈 0.005）. In our study, the functional performance of the children was found to be low. Low-level lesions, encouraging muscular strength and independence in mobility are all very important factors for functional independence.
基金Supported by the National Key Project of Scientific and Technical Supporting Programs funded by the Ministry of Science & Technology of China, No. 2007BA107A02the National Basic Research Program of China (973 Program), No. 2007CB511902+2 种基金the Shanxi Scholarship Council of China, No. 2008-48the Shanxi Natural Science Foundation, No. 2010011049-2the National Natural Science Foundation of China, No. 31040056
文摘Environmental and genetic factors influence the occurrence of neural tube defects, such as spina bifida. Specific disease expression patterns will help to elucidate the pathogenesis of disease. However, results obtained from animal models, which often exhibit organism specificity, do not fully explain the mechanisms of human spina bifida onset. In the present study, three embryos with a gestational age of approximately 17 weeks and a confirmed diagnosis of spina bifida, as well as 3 age-matched normal embryos, were obtained from abortions. Fetal brain stem tissues were dissected for RNA isolation, and microarray analyses were conducted to examine profiles of gene expression in brain stems of spina bifida and normal embryos using Affymetrix HG-U133A 2.0 GeneChip arrays. Of the 14 500 gene transcripts examined, a total of 182 genes exhibited at least 2.5-fold change in expression, including 140 upregulated and 42 downregulated genes. These genes were placed into 19 main functional categories according to the Gene Ontology Consortium database for biological functions. Of the 182 altered genes, approximately 50% were involved in cellular apoptosis, growth, adhesion, cell cycle, stress, DNA replication and repair, signal transduction, nervous system development, oxidoreduction, immune responses, and regulation of gene transcription. Gene expression in multiple biological pathways was altered in the brain stem of human spina bifida embryos.
文摘Spina bifida, or spinal dysraphism, is a malformative pathology related to an anomaly in the development of the nervous system, occurring during embryogenesis. The neural tube does not close properly around the 28th day of life and affects the development of the spinal column and spinal cord. Spina bifida is characterised by damage to the nervous system and will generate handicaps and damage of varying degrees: neurological motor, sensory, cognitive, genito-phincter (bladder and anorectal) deficits with consequences for the quality of life of these people. The literature describes the association between spinal dysraphism and genital prolapse. However, genital prolapse is an exceptional and rare entity in newborns. We report the observations of two newborns: the first case of a newborn born at term, at 7 days of age, who presented a prolapse of the uterine cervix in association with myelomeningocele, without any neuromuscular repercussions, and the second case of a newborn at 10 days of age, presenting with a lumbosacral spina bifida and a uterine prolapse. They benefited from conservative medical treatment characterised by manual reduction of the prolapse in both cases with a favourable evolution. In the case of spina bifida, a cure of myelomeningocele was performed surgically with simple postoperative course.
基金supported by the National Natural Science Foundation of China,No.81671469,81171072(to ZWY)the National Basic Research Program of China(973 Program),No.2013CB945402(to ZWY)the Program for Liaoning Innovative Research Team in University of China,No.LT2013016(to ZWY)
文摘O6-methylguanine DNA methyltransferase(MGMT), a DNA repair enzyme, has been reported in some congenital malformations, but it is less frequently reported in neural tube defects. This study investigated MGMT mRNA expression and methylation levels in the early embryo and in different embryonic stages, as well as the relationship between MGMT and neural tube defects. Spina bifida aperta was induced in rats by a single intragastric administration of all-trans retinoic acid on embryonic day(E) 10, whereas normal control rats received the same amount of olive oil on the same embryonic day. DNA damage was assessed by detecting γ-H2 A.X in spina bifida aperta rats. Real time-polymerase chain reaction was used to examine mRNA expression of MGMT in normal control and spina bifida aperta rats. In normal controls, the MGMT mRNA expression decreased with increasing embryonic days, and was remarkably reduced from E11 to E14, reaching a minimum at E18. In the spina bifida aperta model, γ-H2 A.X protein expression was increased, and mRNA expression of MGMT was markedly decreased on E14, E16, and E18. Bisulfite sequencing polymerase chain reaction for MGMT promoter methylation demonstrated that almost all CpG sites in the MGMT promoter remained unmethylated in both spina bifida aperta rats and normal controls, and there was no significant difference in methylation level between the two groups on either E14 or E18. Our results show that DNA damage occurs in spina bifida aperta rats. The mRNA expression of MGMT is downregulated, and this downregulation is independent of promoter DNA methylation.
文摘Background: An individual with SB needs to deal with long standing illnesses and is often viewed as having a disability that needs to be compensated for. This medical condition is an example of malfunction of the body, though congenital, and could be seen as an outside-perspective to the individual human being. It is important that the required medical treatment is offered to an individual with SB, but such medical treatment alone would not encompass the full health spectrum for an individual in this specific situation. A question to be raised is how this specific group of individuals experience health. Aim: To describe the experience of daily life for young adults with SB through a theoretical lens of health. Method: This qualitative study was conducted using a reflective lifeworld approach with an interpretive part. In the lifeworld theory it is understood that all our doings, feelings and thoughts are experienced through the lifeworld. The interview questions were open and non-standardised. Findings: The main theme was formulated as The contradictory path towards well-being in daily life, and was constructed on the sub-themes: Not understanding and taking responsibility for the lower body, Having people standing behind me—not being allowed to grow up myself, Compared to people like me, I usually do well, I thought it would work out by itself, and A lack of structure in daily life. Conclusion: The study indicates that young adults with SB have a diminished health and well-being and that they have a contradictory path to travel towards independency which is of great concern for this group of individuals. Differences in views of independence constitute a problem and it is important for health care providers to be aware of the individuals’ perspective on independence. This notion is something that needs to be taken into account when designing support programs for these individuals.
文摘Background: The optimal time to closure of a newborn with a myelomeningocele has been the focus of a number of evaluations. The Timing of primary surgery has received significant attention due to its relationship to repair-site infection that can lead to increased morbidity and prolonged hospital stays. It is on this basis that recommendations have utilized 48 - 72 hours post birth as ideal time of closure. This is not only prevent infection at the site but also prevent ventriculitis and neural structure damage. We therefore, hypothesized an increase in wound infection rates in those patients with delays in myelomeningocele repair. Methods: We retrospectively reviewed the records of 103 children with myelomeningocele treated between 2016 and 2023. At discharge the patients were followed up at the post-operative clinic visit 2 weeks later. Children were assigned to 1 of 2 groups, those who underwent primary neurosurgical repair within 72 hours of delivery (Group 1) and those undergoing repair after 72 hours (Group 2). We compared the infection rates. Results: 103 children who underwent myelomeningocele repair were identified, with a median time from birth to treatment of 1 day. Eight (7.8 %) patients were noted to have post-repair surgical site complications. There was no significant difference in rates of infection between Group 1 and Group 2 repair times. The presence of infection was associated increased length of stay when compared to neonates without infection. Conclusion: In children with myelomeningocele, the timing of primary neurosurgical repair appears not to have a significant impact on surgical site infection. Closure of the spinal lesion within the first 72 hours of life may be more favorable for neural damage prevention. These results suggest that early myelomeningocele repair may not impart significantly on the rate of wound-site infection.
文摘Cervical meningoceles are the least common forms of spina bifida, representing between 4% to 8% of all spinal dysraphisms. They are not accompanied by neurological deficit in childhood but attached cord syndrome can occur with growth. Surgical treatment, in addition to avoiding rupture and correcting the aesthetic damage, will preserve neurological functions. We report 2 cases that we took care of. They are a 5-month-old infant and a 3-year-old girl. The first presented a 7 cm rounded meningocele pedunculated through the C1 lamina defect. The second presented an 8.6 cm polylobed meningocele pedunculated through the C2 lamina defect. They both underwent surgery with good progress.
文摘目的:评价妊娠11周~13周6天早孕期超声筛查常规切面所能获得的超声标志筛查胎儿开放性脊柱裂(open spina bifida,OSB)的应用价值。方法:回顾并分析2020年6月—2021年12月在复旦大学附属妇产科医院杨浦院区建卡产检的6例脊柱裂胎儿[OSB 3例,闭合性脊柱裂(closed spina bifida,CSB)3例]和30例正常胎儿的医学资料。调取早孕期超声筛查存储的图像,选取颅脑正中矢状切面和侧脑室切面,观察颅脑正中矢状切面的“四线征”“上颌骨-枕骨线”这两个定性超声标志,侧脑室切面分析定量超声指标“脉络膜长度与枕额径比值(ratio of mean choroid plexus length and occipitofrontal diameter,R-CP)”。对各组胎儿的3个标志再评价并结合妊娠结局进行对比。结果:在30例对照组胎儿和3例CSB胎儿中,均能显示“四线征”;中脑脑干联合处在上颌-枕骨线之上;R-CP为0.43~0.55;而3例OSB胎儿均表现为“三线征”,中脑脑干联合处在上颌骨-枕骨线之下,R-CP分别为0.62、0.68、0.67,显著高于对照组和CSB组胎儿(P<0.001)。结论:早孕期超声筛查常规切面所能获得的3种颅脑超声标志能有效地筛查胎儿OSB。
