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Journal of Neurosurgery. Pediatrics May 2024The goal of this study was to evaluate the impact of endoscopic third ventriculostomy (ETV) failure on subsequent risk of ventriculoperitoneal shunt (VPS) placement.
OBJECTIVE
The goal of this study was to evaluate the impact of endoscopic third ventriculostomy (ETV) failure on subsequent risk of ventriculoperitoneal shunt (VPS) placement.
METHODS
A retrospective chart review was performed to identify pediatric patients receiving ETV followed by a VPS at Oklahoma Children's Hospital between January 1, 2016, and December 31, 2021. A control group of patients receiving a VPS alone was also gathered. Complication and shunt failure rates were compared between the 2 groups at 12 months postoperatively.
RESULTS
A total of 222 patients were included in this study. The VPS placement after ETV failure (VPSEF) group included 21 patients; 53% were male and 47% were female, with a mean age of 2.2 years and standard deviation of 4.3 years. The etiology of hydrocephalus was chiefly intraventricular hemorrhage (43%) and neural tube defects (19%). At 12 months after VPS placement, the complication rate was 24%, predominantly including infection (19%) or CSF leakage (10%). The VPS-only (VPSO) group included 201 patients; 51% were male and 49% were female, with a mean age of 4.2 years and standard deviation of 6.5 years. The etiology of hydrocephalus was chiefly intraventricular hemorrhage (26%) and neural tube defects (30%). At 12 months postoperatively, the complication rate was 10%, predominantly including infection (6%) or catheter-associated hemorrhage (3%). The difference in complication rates between the VPSEF and VPSO groups was not significant at 12 months postoperatively (p = 0.07); however, on subgroup analysis there was a significantly higher rate of CSF leakage at 12 months in the VPSEF group compared to the VPSO group (p = 0.0371).
CONCLUSIONS
There was no difference in overall complication rates for the treatment of pediatric hydrocephalus by VPS following failed ETV compared to VPS placement alone, yet prior ETV may predispose patients to a higher rate of CSF leaks within 12 months of VPS placement. Further study is indicated to determine whether a prior ETV procedure predisposes patients to a higher complication rate on VPS placement.
PubMed: 38820604
DOI: 10.3171/2024.4.PEDS23572 -
Neurology India Mar 2024
Topics: Humans; Arnold-Chiari Malformation
PubMed: 38817188
DOI: 10.4103/neurol-india.Neurol-India-D-24-00173 -
Neurology India Mar 2024
Topics: Humans; Magnetic Resonance Imaging; Neural Tube Defects; Neurosurgical Procedures
PubMed: 38817168
DOI: 10.4103/neurol-india.Neurol-India-D-24-00071 -
Journal of Cardiothoracic Surgery May 2024Neurofibromatosis type 1 is a genetic disease that affects multiple organs and systems, leading to various clinical manifestations. In Neurofibromatosis type 1, rare... (Review)
Review
BACKGROUND
Neurofibromatosis type 1 is a genetic disease that affects multiple organs and systems, leading to various clinical manifestations. In Neurofibromatosis type 1, rare intrathoracic meningoceles often occur alongside bone dysplasia. These meningoceles contain cerebrospinal fluid and can be mistakenly diagnosed as 'pleural effusion'.
CASE PRESENTATION
In this case report, we mistakenly identified 'cerebrospinal fluid' as 'pleural effusion' and proceeded with drainage. This error posed significant risks to the patient and holds valuable implications for the future diagnosis and treatment of similar patients.
CONCLUSIONS
In patients with Neurofibromatosis type 1 complicated by spinal deformity, there is a high incidence of intrathoracic meningoceles. Treatment strategies may differ based on the specific features of the lesions, and collaboration among multiple disciplines can significantly improve patient outcomes.
Topics: Humans; Neurofibromatosis 1; Meningocele; Diagnostic Errors; Pleural Effusion; Tomography, X-Ray Computed; Male; Female
PubMed: 38816890
DOI: 10.1186/s13019-024-02819-3 -
Infectious Diseases (London, England) May 2024In May 2024, the Swedish Reference Group on Antiviral Therapy updated the guidelines on management of HIV infection in pregnancy. The most important recommendations and...
In May 2024, the Swedish Reference Group on Antiviral Therapy updated the guidelines on management of HIV infection in pregnancy. The most important recommendations and revisions were: (i) ART during pregnancy should be started as early as possible and continue after delivery; (ii) Suppressive ART should normally not be modified; (iii) The treatment target of HIV RNA <20 copies/ml remains; (iv) Dolutegravir/emtricitabine/tenofovir DF is the first-line drug combination also in pregnant women and women planning pregnancy; (v) There is no evidence of an increased risk of neural tube defects associated with dolutegravir; (vi) Mode of delivery for women with effective ART and HIV RNA <200 copies/ml should follow standard obstetric procedures; (vii) Caesarean section is recommended if HIV RNA ≥200 copies/ml; (viii) Scalp electrode, foetal blood sampling and/or vacuum delivery should be used on strict indications, but does not necessitate intensified infant prophylaxis; (ix) Management and mode of delivery in case of premature or full-term rupture of membranes should follow standard obstetric procedures; (x) Recommended infant antiretroviral prophylaxis has been updated; (xi) The duration of infant antiretroviral prophylaxis (gestational age ≥35 weeks and mother on effective ART and HIV RNA <200 copies/ml) has been changed from 4 to 2 weeks; (xii) Infants born to women with HIV RNA ≥200 copies/ml should receive 4 weeks of combination prophylaxis; (xiii) Fertility evaluation and assisted reproduction should be offered to women on suppressive ART according to the same principles as for other women; (xiv) Women living with HIV should still be advised against breastfeeding; (xv) Women who nevertheless opt to breastfeed should be offered intensified support and follow-up.
PubMed: 38805265
DOI: 10.1080/23744235.2024.2360029 -
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