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Journal of Developmental Biology Apr 2024The planar cell polarity (PCP) system is essential for positioning cells in 3D networks to establish the proper morphogenesis, structure, and function of organs during... (Review)
Review
The planar cell polarity (PCP) system is essential for positioning cells in 3D networks to establish the proper morphogenesis, structure, and function of organs during embryonic development. The PCP system uses inter- and intracellular feedback interactions between components of the core PCP, characterized by coordinated planar polarization and asymmetric distribution of cell populations inside the cells. PCP signaling connects the anterior-posterior to left-right embryonic plane polarity through the polarization of cilia in the Kupffer's vesicle/node in vertebrates. Experimental investigations on various genetic ablation-based models demonstrated the functions of PCP in planar polarization and associated genetic disorders. This review paper aims to provide a comprehensive overview of PCP signaling history, core components of the PCP signaling pathway, molecular mechanisms underlying PCP signaling, interactions with other signaling pathways, and the role of PCP in organ and embryonic development. Moreover, we will delve into the negative feedback regulation of PCP to maintain polarity, human genetic disorders associated with PCP defects, as well as challenges associated with PCP.
PubMed: 38804432
DOI: 10.3390/jdb12020012 -
Taiwanese Journal of Obstetrics &... May 2024
Incidental detection of a de novo 16p13.3 microdeletion encompassing PKD1 and a familial Yq11.223 microdeletion encompassing DAZ1 in a fetus with encephalocele on prenatal ultrasound and amniotic band syndrome.
Topics: Humans; Female; Pregnancy; Ultrasonography, Prenatal; Encephalocele; Adult; Chromosome Deletion; Chromosomes, Human, Pair 16; Incidental Findings; RNA-Binding Proteins
PubMed: 38802215
DOI: 10.1016/j.tjog.2024.03.013 -
Journal of Neurological Surgery Reports Apr 2024Diastematomyelia is a rare congenital disorder characterized by the separation of the spinal cord by an osseocartilaginous or fibrous septum. While diastematomyelia has...
Diastematomyelia is a rare congenital disorder characterized by the separation of the spinal cord by an osseocartilaginous or fibrous septum. While diastematomyelia has been reported to be more common in the thoracic and lumbar regions, the true incidence of cervical diastematomyelia is currently unknown. In this study, we conducted the most comprehensive systematic review to date of all other case reports of diastematomyelia to better characterize the incidence of cervical diastematomyelia and provide comprehensive statistics on the clinical characteristics of diastematomyelia generally. Ninety-one articles were included in our study, which comprised 252 males (27.9%) and 651 females (72.0%) (and one patient with unspecified gender). In 507 cases, the vertebral level of the diastematomyelia was described, and we recorded those levels as either cervical ( = 8, 1.6%), thoracic ( = 220, 43.4%), lumbar ( = 277, 54.6%), or sacral ( = 2, 0.4%). In 719 cases, the type of diastematomyelia was specified as either Type I ( = 482, 67.0%) or Type II ( = 237, 33.0%). Our study found that diastematomyelia has been reported in the cervical region in only 1.6% of cases, and we provide comprehensive data that this disorder occurs in female-to-male ratio of approximately 2.6:1 and Type I versus Type II diastematomyelia in an estimated ratio of 2:1.
PubMed: 38798790
DOI: 10.1055/a-2319-3444 -
International Journal of Environmental... May 2024Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory...
Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, = 10 items), teenagers (QUALAS-T, = 10 items) and adults with spina bifida (QUALAS-A, = 15 items) based on the original US English versions. The process included close collaboration with the original instrument developer and complied with international standards on patient-reported outcome measurements. The procedure includes forward translation, expert and patient/parent review and reconciliation, back translation, back translation review and cognitive debriefing interviews with 16 people with spina bifida aged 8 to 33, providing them with the possibility of evaluating the clarity, adequacy, and comprehensiveness of QUALAS-C, QUALAS-T and QUALAS-A, respectively. The interviews lasted a median of 15 min (range 8-16) for QUALAS-C, 10 min (range 9-15) for QUALAS-T and 24 min (range 9-38) for QUALAS-A. Four main issues/topics needed attention and discussion after both the forward and back translation. Following the back translation review, all issues were resolved. The patient feedback revealed recognition of the HRQoL issues included in QUALAS, and also difficulties in understanding some questions. After the patients' evaluation, four items were reworded for clarity. No study participant reported a wish to add to or remove questions from QUALAS. Hence, the Swedish versions of QUALAS became conceptually equivalent to the original US English versions and achieved linguistic, content and face validity. While empowering the voices of people with spina bifida, these results also enable their HRQoL to be properly assessed in research and clinical care in Sweden and in international studies.
Topics: Humans; Quality of Life; Spinal Dysraphism; Adolescent; Sweden; Adult; Child; Female; Male; Young Adult; Surveys and Questionnaires; Reproducibility of Results; Linguistics
PubMed: 38791838
DOI: 10.3390/ijerph21050624 -
Diagnostics (Basel, Switzerland) May 2024Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence...
Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.
PubMed: 38786298
DOI: 10.3390/diagnostics14101000 -
BMC Pediatrics May 2024Neural tube defects (NTDs) account for the largest proportion of congenital anomalies of the central nervous system and result from failure of the neural tube to close...
BACKGROUND
Neural tube defects (NTDs) account for the largest proportion of congenital anomalies of the central nervous system and result from failure of the neural tube to close spontaneously between the 3rd and 4th weeks of in utero development. Prognosis and treatment outcome depends on the nature and the pattern of the defect. The nature of treatment outcomes and its pattern associated with grave prognosis is not well known in the study area.
OBJECTIVE
The aim of study was to determine the patterns and short term neurosurgical management outcomes of newborns with neural tube defects admitted at Felege Hiwot Specialized Hospital.
METHODS
Institutional based retrospective cross-sectional study among neonates, who were admitted at Felege Hiwot Specialized Hospital with neural tube defects from January 1 to December, 30, 2018 was conducted. All Charts of Neonates with confirmed diagnosis of neural tube defects were included as part of the study. Trained data collectors (medical interns) supervised by trained supervisors (general practitioners) collected the data using a pretested data extraction format. Data were coded, entered and analyzed using SPSS version 23 software. Frequency and cross tabulations were used to summarize descriptive statistics of data, and tables and graphs were used for data presentation.
RESULT
About 109 patients had complete documentation and imaging confirmed neural tube defects. Myelomeningocele was the commonest pattern 70 (64.2%). Thoracolumbar spine was the commonest site of presentation 49(45%). The most common associated impairment was hydrocephalus 37(33.9%). Forty-five (41.1%) had multiple complications. The mortality rate was 7.3%, 44% were discharged with sequalae and 36.7% were discharged without impairment. The significant causes of death were infection 66.7% and Chiari crisis 33.3%.
CONCLUSION
Myelomeningocele was the most frequent clinical pattern of neural tube defect and thoracolumbar spine was the commonest site. Isolated neural tube defect was the commonest finding. There were multiple complications after surgery accompanied with meningitis and hydrocephalus. The mortality rate among neonates with neural tube defects was considerably high. The commonest causes of death were infection and Chiari crisis.
Topics: Humans; Infant, Newborn; Cross-Sectional Studies; Retrospective Studies; Ethiopia; Neural Tube Defects; Female; Male; Neurosurgical Procedures; Treatment Outcome; Hydrocephalus; Hospitals, Special; Meningomyelocele
PubMed: 38773409
DOI: 10.1186/s12887-024-04837-5 -
Cell Biology and Toxicology May 2024Neural tube defects (NTDs) represent a prevalent and severe category of congenital anomalies in humans. Cadmium (Cd) is an environmental teratogen known to cause fetal...
Neural tube defects (NTDs) represent a prevalent and severe category of congenital anomalies in humans. Cadmium (Cd) is an environmental teratogen known to cause fetal NTDs. However, its underlying mechanisms remain elusive. This study aims to investigate the therapeutic potential of lipophagy in the treatment of NTDs, providing valuable insights for future strategies targeting lipophagy activation as a means to mitigate NTDs.We successfully modeled NTDs by Cd exposure during pregnancy. RNA sequencing was employed to investigate the transcriptomic alterations and functional enrichment of differentially expressed genes in NTD placental tissues. Subsequently, pharmacological/genetic (Atg5 placentas) experiments confirmed that inducing placental lipophagy can alleviate Cd induced-NTDs. We found that Cd exposure caused NTDs. Further analyzed transcriptomic data from the placentas with NTDs which revealed significant downregulation of low-density lipoprotein receptor associated protein 1(Lrp1) gene expression responsible for positive regulation of low-density lipoprotein cholesterol (LDL-C) transport. Correspondingly, there was an increase in maternal serum/placenta/amniotic fluid LDL-C content. Subsequently, we have discovered that Cd exposure activated placental lipophagy. Pharmacological/genetic (Atg5-/- placentas) experiments confirmed that inducing placental lipophagy can alleviate Cd induced-NTDs. Furthermore, our findings demonstrate that activation of placental lipophagy effectively counteracts the Cd-induced elevation in LDL-C levels. Lipophagy serves to mitigate Cd-induced NTDs by reducing LDL-C levels within mouse placentas.
Topics: Female; Animals; Pregnancy; Placenta; Neural Tube Defects; Mice; Cadmium; Cholesterol, LDL; Low Density Lipoprotein Receptor-Related Protein-1; Mice, Inbred C57BL; Mice, Knockout
PubMed: 38771546
DOI: 10.1007/s10565-024-09885-2 -
World Neurosurgery May 2024Split cord malformation (SCM), associated with neurologic deficits, necessitates surgical intervention for spinal cord detethering. Limited evidence exists regarding its...
OBJECTIVE
Split cord malformation (SCM), associated with neurologic deficits, necessitates surgical intervention for spinal cord detethering. Limited evidence exists regarding its impact on children's quality of life. Our study aims to evaluate the postoperative quality of life in children treated for SCM.
METHODS
This retrospective cohort study examined records of patients with SCM operated on between July 1, 2012, and July 31, 2022, at a single center. Data, including Health Utility Index-3 (HUI-3) scores provided by guardians, was collected to assess quality of life. Clinical and neurologic outcomes were also analyzed.
RESULTS
Twenty-five patients, predominantly female (68%), with a median age of 7 years, were included. Most presented with normal motor function (76%). The most common anatomic level of SCM was lumbar (12; 48%) followed by lumbosacral (5; 20%). A bony spur from the lamina was the most common cause of splitting the cord (64%). Over a median follow-up of 3.3 years, 64% of patients showed neurologic stability, 16% showed neurologic improvement, and 4% experienced deterioration. The mean HUI-3 score for 21 children was 0.93 ± 0.24.
CONCLUSIONS
Surgical management of SCM showed favorable neurologic outcomes and a positive long-term quality of life, as shown by HUI-3 scores. Our findings emphasize the efficacy of surgical intervention in improving the lives of children with this condition.
PubMed: 38762029
DOI: 10.1016/j.wneu.2024.05.074 -
BMJ Open May 2024To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube...
OBJECTIVE
To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions.
DESIGN
A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data.
SETTING
The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively.
PARTICIPANTS
All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled.
RESULTS
The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable.
CONCLUSION
This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities.
TRIAL REGISTRATION NUMBER
CTRI/2021/06/034487.
Topics: Humans; Cross-Sectional Studies; Female; India; Pregnancy; Adult; Neural Tube Defects; Prevalence; Young Adult; Adolescent; Middle Aged; Ultrasonography, Prenatal; Anencephaly; Encephalocele; Spinal Dysraphism
PubMed: 38760039
DOI: 10.1136/bmjopen-2023-083057 -
Neuroradiology Jul 2024Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder. Scoliosis and dural ectasia are features of the associated mesodermal dysplasia. Lateral...
Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder. Scoliosis and dural ectasia are features of the associated mesodermal dysplasia. Lateral thoracic meningoceles can develop in NF1 and progressively enlarge due to cerebrospinal fluid (CSF) pulsations. Large meningoceles can cause compressive symptoms in the thorax. We are reporting a case of a NF1 presenting with acute onset respiratory distress, who also had chronic orthostatic headaches. CT chest showed unruptured enlarging bilateral lateral thoracic meningoceles causing lung compression. MRI of the brain and spine showed features of CSF hypotension, explaining the headaches. CSF hypotension with unruptured meningoceles is extremely rare. Management of the condition is challenging since surgical removal is prone to complications due to underlying mesodermal abnormalities. Cystoperitoneal shunting to relieve lung compression may worsen CSF hypotension. A shunt with a programmable valve allowed controlled drainage and successfully relieved lung compression without worsening of orthostatic headaches in our case.
Topics: Humans; Neurofibromatosis 1; Meningocele; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Male; Female; Intracranial Hypotension; Hypotension; Thoracic Vertebrae; Diagnosis, Differential; Rare Diseases
PubMed: 38755334
DOI: 10.1007/s00234-024-03381-4