Partial Corpus Research Articles

Outcome of partial agenesis of corpus callosum

The diagnosis of corpus callosum anomalies by prenatal ultrasound has improved over the last decade because of improved imaging techniques, scanning skills, and the routine implementation of transvaginal neurosonography. Our aim was to investigate all cases of incomplete agenesis of the corpus callosum and to report the sonographic characteristics, the associated anomalies, and the perinatal outcomes. We performed a retrospective analysis of cases from January 2007 to December 2017 with corpus callosum anomalies, either referred for a second opinion or derived from the prenatal ultrasound screening program in a single tertiary referral center. Cases with complete agenesis were excluded from the analysis. Standardized investigation included a detailed fetal ultrasound including neurosonogram, fetal karyotyping (standard karyotype or array comparative genomic hybridization) and fetal magnetic resonance imaging. The pregnancy outcome was collected, and pathologic investigation in case of termination of the pregnancy or fetal or neonatal loss was compared with the prenatal findings. The pregnancy and fetal or neonatal outcomes were reported. The neurologic assessment was conducted by a pediatric neurologist using the Bayley Scales of Infant Development-II and the standardized Child Development Inventory when the Bayley investigation was unavailable. Corpus callosum anomalies were diagnosed in 148 cases during the study period, 62 (41.9%) of which were excluded because of complete agenesis, and 86 fetuses had partial agenesis (58.1%). In 20 cases, partial agenesis (23.2%) was isolated, whereas 66 (76.7%) presented with different malformations among which 29 cases (43.9%) were only central nervous system lesions, 21 cases (31.8%) were non-central nervous system lesions, and 16 cases (24.3%) had a combination of central nervous system and non-central nervous system lesions. The mean gestational age at diagnosis for isolated and non-isolated cases was comparable (24.29 [standard deviation, 5.05] weeks and 24.71 [standard deviation, 5.35] weeks, respectively). Of the 86 pregnancies with partial agenesis, 46 patients opted for termination of the pregnancy. Neurologic follow-up data were available for 35 children. The overall neurologic outcome was normal in 21 of 35 children (60%); 3 of 35 (8.6%) showed mild impairment and 6 of 35 (17.1%) showed moderate impairment. The remaining 5 of 35 (14.3%) had severe impairment. The median duration of follow-up for the isolated form was 45.6 months (range, 36-52 months) and 73.3 months (range, 2-138 months) for the nonisolated form. Partial corpus callosum agenesis should be accurately investigated by neurosonography and fetal magnetic resonance imaging to describe its morphology and the associated anomalies. Genetic anomalies are frequently present in nonisolated cases. Efforts must be taken to improve ultrasound diagnosis of partial agenesis and to confirm its isolated nature to enhance parental counseling. Although 60% of children with prenatal diagnosis of isolated agenesis have a favorable prognosis later in life, they often have mild to severe disabilities including speech disorders at school age and behavior and motor deficit disorders that can emerge at a later age.

Prognostic differences and implications on treatment strategies between butterfly glioblastoma and glioblastoma with unilateral corpus callosum infiltration

Approximately 25% of glioblastomas show at diagnosis a corpus callosum infiltration, which is associated with poor prognosis. The extent of corpus callosum involvement, however, ranges from partial unilateral to complete bilateral infiltration. The role of surgery in glioblastoma with corpus callosum involvement is controversial. In this study, we aimed to examine prognostic differences between glioblastoma with unilateral and glioblastoma with bilateral corpus callosum infiltration, and to evaluate possible treatment strategy implications. Patients with newly diagnosed glioblastoma from 2010 to 2019 were included. Corpus callosum infiltration was assessed in contrast-enhanced T1-weighted preoperative magnetic resonance imaging. Extent of resection, adjuvant treatments and overall survival were evaluated. Corpus callosum involvement was found in 96 (26.4%) out of 363 patients with newly diagnosed glioblastoma. Bilateral corpus callosum infiltration was found in 27 out of 96 patients (28%), and 69 patients had unilateral corpus callosum infiltration. Glioblastoma with corpus callosum affection had significantly lower median overall survival compared to glioblastoma without corpus callosum involvement (9 vs. 11 months, p = 0.02). A subgroup analysis of glioblastoma with unilateral corpus callosum infiltration revealed a significant difference in median overall survival dependent on extent of resection (6.5 without gross total resection vs. 11 months with gross total resection, Log-rank test p = 0.02). Our data confirms a shorter overall survival in glioblastoma subpopulation with corpus callosum involvement, especially for glioblastoma with bilateral corpus callosum infiltration. However, patients with partial corpus callosum infiltration undergoing gross total resection exhibited a significant survival benefit compared to their counterparts without gross total resection. Whenever reasonably achievable gross total resection should be considered as an integral part of the treatment strategy in glioblastoma with partial corpus callosum infiltration.

A patient with mosaic USP9X gene variant

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.Lys2227SerfsTer2) in USP9X, which was present in a mosaic state in the amniocytes and in the peripheral blood after birth (14% and 30%, respectively). The X methylation status analysis displayed a partially skewed X-inactivation with 80% of inactive paternal X. The first signs of the MRXS99F were prenatally detected at 20 weeks, with an enlarged posterior cranial fossa, an upward rotation of the cerebellar vermis and partial corpus callosum agenesis, together with a cardiac septal defect and a single umbilical artery. After birth and during postnatal follow-up the anal anteriorization and the presence of a bilateral membranous choanal atresia were noted, whereas the MRI revealed the hypo/aplasia of the olfactory bulbs, a widening of the subarachnoid spaces and a delay in the myelinisation. During the 18-months follow-up a severe growth and global developmental delay, together with a bilateral moderate deafness with a threshold at 40 dB, dental enamel erosions and an initial scoliosis were observed. We report the prenatal and postnatal features of a classical MRXS99F phenotype and a mosaic USP9X frameshift variant with a partially skewed X inactivation and discuss genotype/phenotype correlations in view of the published studies so far.

The Tower of Babel or Ivory Tower? The Reception of Western Translation Research in Russian-Language Translation Studies – a Reconnaissance

The aim of this article is to survey which texts and authors representing Western translation studies have been translated into Russian over the last seven decades and to describe the dynamics of the emergence of these translations as well as possible agendas behind their selection. It also traces, on a partial corpus, to what extent Russian translation scholars tend to cite and quote Western ones. The findings lead to a tentative conclusion that so far TS knowledge has been transferred mainly by unfrequent references to original publications and by way of mediated accounts (reviews, textbook summaries), while translations of particular studies have only recently begun appearing on a wider scale, their impact as yet uncertain.

Case Report: Complex Congenital Brain Anomaly in a BBxHF Calf–Clinical Signs, Magnetic Resonance Imaging, and Pathological Findings

This case report describes the clinical signs, magnetic resonance imaging (MRI) findings and associated (histo)pathological findings in a crossbred Belgian Blue calf with congenital complex brain anomaly. The calf was presented with non-progressive signs (including cerebellar ataxia) since it was born, suggestive of a multifocal intracranial lesion. A congenital anomaly was suspected and after hematology, biochemistry, serology, and cerebrospinal fluid analysis, a magnetic resonance imaging study was performed. The following suspected abnormalities were the principal changes identified: severe hydrocephalus, porencephaly, suspected partial corpus callosum agenesis (CCA), and increased fluid signal between the folia of the cerebellum. Post-mortem examination predominately reflected the MRI findings. The origin for these malformations could not be identified and there was no evidence of a causative infectious agent. Corpus callosum abnormalities have been reported in bovids before and have been linked to bovine viral diarrhea virus (BVDV) infections, as have several other central nervous system anomalies in this species. In this case, BVDV was deemed an unlikely causative agent based on serology test results and lack of typical histopathological signs. The etiology of the congenital anomaly present in this bovine calf remains unknown.

Comparison of seizure outcomes and ADL recovery period after total or anterior corpus callosotomy in adolescent and young adults with drop attacks and severe mental retardation

PurposeThe aim of this study was to evaluate seizure outcomes and postoperative neurologic complications, with an emphasis on the recovery period of activities of daily living (ADL) between anterior partial corpus callosotomy (ACC) and total corpus callosotomy (TCC) in adolescent and young adults with drop attacks and severe mental retardation. MethodsWe retrospectively reviewed the clinical records of consecutive patients with intractable epilepsy who underwent corpus callosotomy (CC) for drop attacks between 2010 and 2019 in the Department of Neurosurgery, Hiroshima University hospital, with a minimum follow-up of one year. Inclusion criteria of this study were 1) age at surgery: 11–39 years, 2) preoperative intelligence quotient <35, and 3) preoperative Barthel index (BI) ≥30. Postoperative full ADL recovery was defined as complete recovery to the preoperative BI score. We compared the postoperative days required for 1) recovery of oral intake ability, 2) discharge from our hospital, 3) returning home from any hospital, 4) returning home with full ADL recovery, and 5) seizure outcomes in patients with ACC versus those with one-stage TCC. ResultsTen patients with ACC and 14 patients with one-stage TCC met the inclusion criteria. The period for returning home with full ADL recovery was a median of 15 days (range 9−45 days) after ACC, while the median was 21.5 days (range 10−62 days) after one-stage TCC (p = 0.2904). Although there was a tendency for the ADL recovery period to be longer after one-stage TCC, there were no statistically significant differences in any category of ADL recovery period. Eleven of 14 (78.6 %) patients who received a one-stage TCC showed favorable seizure outcomes, with drop attack cessation, which was significantly better than 1 of 10 (10 %) patients with ACC (p = 0.0009). ConclusionsFrom the viewpoint of postoperative seizure outcomes and ADL recovery period, one-stage TCC is preferred to ACC for adolescent and young adults with severe mental retardation.

Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor\xa0activity

Neurodevelopmental disorders arise from combined defects in processes including cell proliferation, differentiation, migration and commissure formation. The evolutionarily conserved tumor-suppressor protein Scribble (Scrib) serves as a nexus to transduce signals for the establishment of apicobasal and planar cell polarity during these processes. Human SCRIB gene mutations are associated with neural tube defects and this gene is located in the minimal critical region deleted in the rare Verheij syndrome. In this study, we generated brain-specific conditional cKO mouse mutants and assessed the impact of the Scrib deletion on brain morphogenesis and behavior. We showed that embryonic deletion of Scrib in the telencephalon leads to cortical thickness reduction (microcephaly) and partial corpus callosum and hippocampal commissure agenesis. We correlated these phenotypes with a disruption in various developmental mechanisms of corticogenesis including neurogenesis, neuronal migration and axonal connectivity. Finally, we show that Scrib cKO mice have psychomotor deficits such as locomotor activity impairment and memory alterations. Altogether, our results show that Scrib is essential for early brain development due to its role in several developmental cellular mechanisms that could underlie some of the deficits observed in complex neurodevelopmental pathologies.

Beyond Isolated and Associated: A Novel Fetal MR Imaging-Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis.

Although "corpus callosum agenesis" is an umbrella term for multiple entities, prenatal counseling is based reductively on the presence (associated) or absence (isolated) of additional abnormalities. Our aim was to test the applicability of a fetal MR neuroimaging score in a cohort of fetuses with prenatally diagnosed isolated corpus callosum agenesis and associated corpus callosum agenesis and correlate it with neurodevelopmental outcomes. We performed a single-center retrospective analysis of a cohort of cases of consecutive corpus callosum agenesis collected between January 2011 and July 2019. Cases were scored by 2 raters, and interater agreement was calculated. Outcome was assessed by standardized testing (Bayley Scales of Infant and Toddler Development, Kaufman Assessment Battery for Children) or a structured telephone interview and correlated with scores using 2-way ANOVA. We included 137 cases (74 cases of isolated corpus callosum agenesis), imaged at a mean of 27 gestational weeks. Interrater agreement was excellent (0.98). Scores were higher in associated corpus callosum agenesis (P < .0001) without a significant score difference between complete and partial corpus callosum agenesis (P = .38). Outcome was assessed in 42 children with isolated corpus callosum agenesis and 9 with associated corpus callosum agenesis (mean age, 3.1 years). MR imaging scores correctly predicted developmental outcome in 90.7% of patients with isolated corpus callosum agenesis, improving neurodevelopmental risk stratification in corpus callosum agenesis. The scoring system is very reproducible and can differentiate isolated corpus callosum agenesis and associated isolated corpus callosum agenesis (significantly higher scores) but not between partial and complete corpus callosum agenesis. Scores correlated with outcome in isolated corpus callosum agenesis, but there were too few associated postnatal cases of isolated corpus callosum agenesis to draw conclusions in this group.

Role of Corpus Callosum in Global Developmental Delay

Background: Neuroimaging provides essential information as evidence of previous injuries, specific abnormalities that could indicate a group or a particular disease in babies with global developmental delay. The objectives is to assess the difference of corpus callosal size in various regions of the corpus callosum in cases of children with developmental delay and to know the etiology using MRI. Subjects and Methods: My study includes 102 children between 1 to 6 years of age among which 51 children are cases having signs and symptoms of developmental delay and 51 children are controls i.e. healthy babies. They underwent MRI in the Department of Radiology, JJM Medical College, Davangere in whom corpus callosum is imaged on sagittal MR sections and its size is calculated in different regions. Results: Abnormalities of the corpus callosum like thinning and agenesis were observed in 55.5% (N=27) in the study group, and none of the patients in the control group. Partial corpus callosal agenesis was present in 3.9% of patients. Complete agenesis in 3.9% of patients. Thinning of the corpus callosum was seen in 45% of patients who were in the study group. Conclusion: The current study suggests that corpus callosal abnormalities, including brain changes, is useful in knowing the etiology of global developmental delay.

Wieża Babel czy wieża z kości słoniowej? Recepcja przekładoznawstwa zachodniego w rosyjskojęzycznej nauce o przekładzie – próba rozpoznania

The Tower of Babel or Ivory Tower? The Reception of Western Translation Research in Russian-language Translation Studies – a Reconnaissance The aim of this paper is to survey what texts and authors representing Western translation studies have been translated into Russian over the last seven decades and to describe the dynamics of the emergence of these translations as well as possible agendas behind the choices. It also traces, on a partial corpus, to what extent Russian translation scholars tend to cite and quote Western ones. The findings lead to a tentative conclusion that so far TS knowledge has been transferred mainly by unfrequent references to original publications and by way of mediated accounts (reviews, textbook summaries), while translations of particular studies have only recently begun appearing on a wider scale, their impact as yet uncertain.

Stereotactic laser ablation for completion corpus callosotomy.

Completion corpus callosotomy can offer further remission from disabling seizures when a prior partial corpus callosotomy has failed and residual callosal tissue is identified on imaging. Traditional microsurgical approaches to section residual fibers carry risks associated with multiple craniotomies and the proximity to the medially oriented motor cortices. Laser interstitial thermal therapy (LITT) represents a minimally invasive approach for the ablation of residual fibers following a prior partial corpus callosotomy. Here, the authors report clinical outcomes of 6 patients undergoing LITT for completion corpus callosotomy and characterize the radiological effects of ablation. A retrospective clinical review was performed on a series of 6 patients who underwent LITT completion corpus callosotomy for medically intractable epilepsy at Stanford University Medical Center and Lucile Packard Children's Hospital at Stanford between January 2015 and January 2018. Detailed structural and diffusion-weighted MR images were obtained prior to and at multiple time points after LITT. In 4 patients who underwent diffusion tensor imaging (DTI), streamline tractography was used to reconstruct and evaluate tract projections crossing the anterior (genu and rostrum) and posterior (splenium) parts of the corpus callosum. Multiple diffusion parameters were evaluated at baseline and at each follow-up. Three pediatric (age 8-18 years) and 3 adult patients (age 30-40 years) who underwent completion corpus callosotomy by LITT were identified. Mean length of follow-up postoperatively was 21.2 (range 12-34) months. Two patients had residual splenium, rostrum, and genu of the corpus callosum, while 4 patients had residual splenium only. Postoperative complications included asymptomatic extension of ablation into the left thalamus and transient disconnection syndrome. Ablation of the targeted area was confirmed on immediate postoperative diffusion-weighted MRI in all patients. Engel class I-II outcomes were achieved in 3 adult patients, whereas all 3 pediatric patients had Engel class III-IV outcomes. Tractography in 2 adult and 2 pediatric patients revealed time-dependent reduction of fractional anisotropy after LITT. LITT is a safe, minimally invasive approach for completion corpus callosotomy. Engel outcomes for completion corpus callosotomy by LITT were similar to reported outcomes of open completion callosotomy, with seizure reduction primarily observed in adult patients. Serial DTI can be used to assess the presence of tract projections over time but does not classify treatment responders or nonresponders.

EP08.11: Partial corpus callosum agenesis remains a challenge in prenatal diagnosis

EP08.11: Partial corpus callosum agenesis remains a challenge in prenatal diagnosis

The Labyrinthine Exhibition: A New Genre

This essay examines the labyrinthine exhibition and its recent emergence as an identifiable exhibition genre. Consideration of what a labyrinthine exhibition actually is, understanding its origins, mapping even a partial corpus, and plotting a provisional history allow us to engage with questions about genre formation and reformulation more generally. To that end, what follows is a discussion of terminology, canon formation, and knowledge production with regard to the labyrinthine exhibition and how new exhibition genres are constituted.

Fetal Neurosonogaphy: Ultrasound and Magnetic Resonance Imaging in Competition.

Fetal Neurosonogaphy: Ultrasound and Magnetic Resonance Imaging in Competition.

Partial corpus callosum agenesis and colpocephaly: a case report

Callosal abnormalities are mostly described as central nervous system malformations and can be symptomatic or asymptomatic. Herein, we report an autopsy case of a 50-year-old Syrian immigrant male with poor academic performance, presented with partial agenesis of the corpus callosum and colpocephaly. He was evidently asymptomatic until death.The cause of death was determined to be hypothermia. Autosy revealed a corpus callosum of 3 cm only in the anterior part. Posterior part of the corpus callosum, anterior, posterior and hippocampal commissures were absent. On coronal sections, inferior horn of the lateral ventricle was dilated. Histopathological examination showed petechial microhemorrhagic areas and congestion in the brain. This case report was presented to demonstrate a good example of corpus callosum agenesis in asymptomatic individuals except for poor academic performance. Furthermore, this is the first corpus callosum agenesis in medical literature encountered during medicolegal autopsy in an adult case.

Stereotactic laser ablation of the splenium for intractable epilepsy.

Partial or complete corpus callosotomies have been applied, traditionally via open surgical or radiosurgical approaches, for the treatment of epilepsy in patients with multifocal tonic, atonic, or myoclonic seizures. Minimally invasive methods, such as MRI-guided laser interstitial thermal ablation (MTLA), are being employed to functionally remove or ablate seizure foci in the treatment of epilepsy. This therapy can achieve effectiveness similar to that of traditional resection, but with reduced morbidity compared with open surgery. Here, we present a patient with a history of prior partial corpus callosotomy who continued to suffer from medically refractory epilepsy with bisynchronous onset. We report on the utilization of laser ablation of the splenium in this patient to achieve full corpus callosotomy. Adequate ablation of the splenial remnant was confirmed by postoperative MRI imaging, and at four-month follow-up, the patient's seizure frequency had dropped more than 50%. This is the first reported instance of laser ablation of the splenium to achieve full corpus callosotomy following a previous unsuccessful anterior callosotomy in a patient with intractable generalized epilepsy.

Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly

a Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan b Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan c Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Taiji Fetal Medicine Center, Taipei, Taiwan h Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan i Gene Biodesign Co. Ltd, Taipei, Taiwan j Department of Bioengineering, Tatung University, Taipei, Taiwan

EP03.03: Gender related structural differences in the fetal brain measured by 3D ultrasound

The aim of this study was to measure the depth of parieto-occipital fissure, calcarine sulcus, insula and Sylvian fissure of the fetal brain in order to establish normal reference ranges. Furthermore, to find out whether there are gender related structural brain differences and left-right differences between the brain hemispheres. In a cross-sectional study 3D ultrasound volumes of fetal brains were obtained from axial, coronal and sagittal planes. All scans were performed using E8 General Electric equipment (Zipf, Austria), with a 5–8 MHz 3D transabdominal and 5–9 MHz 3D transvaginal transducer. Depth of parieto-occipital, calcarine sulcus, insula and Sylvian fissure was measured in the axial and coronal plane to evaluate the differences in the cortical development through gestation. Furthermore 5 pathological cases (two with arachnoidal cyst one with brain hemorrhagia and two with partial corpus callosum agenesis) were studied in order to show the clinical relevance of the new reference ranges. Over a period of 4 years 514 normal fetuses between 13 and 40 gestational weeks were examined. The volumes were acquired either by transvaginal (n = 311) or transabdominal (n = 201) ultrasound. The comparison of brains in male and female fetuses didn't reveal striking differences. Concerning differences between the left and right hemisphere we could find out that the parieto-occipital fissure shows a higher depth on the left side. Fetal brain development follows a predictable timetable. Knowledge of appearance and degree of morphological changes may help in the detection of fetal brain pathology. In contrast to 2D ultrasound 3D sonography enables a precise evaluation of the fetal cortical development.

Combination of Corpus Callosotomy and Vagus Nerve Stimulation in the Treatment of Refractory Epilepsy

Background: Palliative techniques such as partial corpus callosotomy (CC) and vagus nerve stimulation (VNS) may be effective for adequate control of seizures in pharmacoresistant patients who are not candidates for resective surgery. Objective: The objective of this study was to analyze the efficacy of the combination of these two techniques in patients where the first surgery had not achieved adequate control. Materials and Methods: This is a retrospective review of 6 patients with refractory epilepsy in which both types of surgery were performed, CC and VNS. We analyzed variables such as age, sex, age at onset of epilepsy, seizure types, electroencephalogram and magnetic resonance imaging results, and number of pre- and postoperative seizures. Results: Three patients first underwent VNS and then CC, and 3 patients were treated in reverse order. All patients had some improvement after the first surgery, but they continued to experience persistent falls, so a second palliative technique was used. The mean improvement after both surgeries was 89% (90% in patients first receiving CC and 87% in patients who first underwent VNS). Conclusions: In adequately studied patients who are not optimal candidates for resective surgery, palliative surgery is a choice. The combination of VNS and CC shows good results in our series, although the right order to perform both procedures has not been defined. These results should be confirmed in a larger group of patients.

Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature

Aicardi syndrome (AS) is a severe neurodevelopmental disorder characterized by the triad of seizures, agenesis of corpus callosum, and chorioretinal lacunae. Seizures in AS are typically frequent, of various types, and refractory to medical therapy. Optimal treatment of seizures in AS remains undetermined. We report a series of four patients with Aicardi syndrome who underwent surgical management of their epilepsy including two with corpus callosotomy (CC) of a partial corpus callosum and three with vagus nerve stimulator implantation. Seizure outcome was variable and ranged from near complete resolution of seizures to worsening of seizure profile. The most favorable seizure outcome was seen in a patient with partial agenesis of the corpus callosum treated with CC. Seizure outcome following CC or vagus nerve stimulation in patients with Aicardi syndrome is variable. Although palliative epilepsy surgery may result in improvement in the seizure profile in some patients, studies on larger patient cohorts are needed to identify the precise role that surgery may play in the multidisciplinary approach to controlling seizures in Aicardi syndrome.