scholarly journals Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea

2017 ◽  
Vol 60 (1) ◽  
pp. 8 ◽  
Author(s):  
Sung Eun Kim ◽  
Hye-In Jang ◽  
Kylie Hae-jin Chang ◽  
Ji-Hee Sung ◽  
Jiwon Lee ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Clinical Outcomes ◽  
Neurodevelopmental Outcome ◽  
Single Center ◽  
Agenesis Of Corpus Callosum

Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome?

2006 ◽  
Vol 48 (3) ◽  
pp. 298-304 ◽  
Author(s):  
PISANI FRANCESCO ◽  
BIANCHI MARIA-EDGARDA ◽  
PIANTELLI GIOVANNI ◽  
GRAMELLINI DANDOLO ◽  
BEVILACQUA GIULIO
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Neurodevelopmental Outcome ◽  
Agenesis Of Corpus Callosum

OC15.02: Neurodevelopmental outcome in truly isolated fetal agenesis of corpus callosum

2014 ◽  
Vol 44 (S1) ◽  
pp. 35-35
Author(s):  
G. Pagani ◽  
V. Gerosa ◽  
F. D'Antonio ◽  
M. Gregorini ◽  
P. Accorsi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Neurodevelopmental Outcome ◽  
Agenesis Of Corpus Callosum

Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review

2021 ◽  
pp. 1-8
Author(s):  
Sara Bernardes da Cunha ◽  
Maria Carolina Carneiro ◽  
Maria Miguel Sa ◽  
Andrea Rodrigues ◽  
Carla Pina
Keyword(s):  
Systematic Review ◽  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Neurodevelopmental Outcome ◽  
Supportive Therapy ◽  
Mesh Term ◽  
Older Children ◽  
Neurodevelopmental Outcomes ◽  
Agenesis Of Corpus Callosum ◽  
Corpus Callosum Agenesis

Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with additional anomalies. However, unpredictable neurodevelopmental outcomes of truly isolated CCA make prenatal counseling a challenge. The aim of this review is to evaluate neurodevelopmental outcomes in children with prenatal diagnosis of isolated CCA. Controlled clinical trials published between May 23, 2009, and May 23, 2019, using the MeSH term “agenesis of corpus callosum” were reviewed. A total of 942 articles were identified, and 8 studies were included in the systematic review depending on the inclusion criteria. These studies included 217 fetuses with isolated CCA and no other anomalies at prenatal assessment. Neurodevelopmental outcome was reported to be normal in 83 children with a prenatal diagnosis of isolated CCA confirmed at birth within 128 completed assessments. About 45 children presented borderline, moderate, or severe neurodevelopmental outcome. In this review, neurodevelopment was favorable in two-thirds of the cases, but mild disabilities emerged in older children. Despite this, disabilities can occur later beyond school age and a low risk of severe cognitive impairment exists. Our study highlights the essential early diagnosis and proper supportive therapy.

scholarly journals Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

2021 ◽  
Vol 7 (2) ◽  
pp. 97-101
Author(s):  
Jafar Nasiri ◽  
◽  
Maryam Sedghi ◽  
Mohammad Hossein Hemat ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Corpus Callosum ◽  
Behavioral Problems ◽  
Developmental Delays ◽  
Muscle Tone ◽  
Heart Diseases ◽  
Neurodevelopmental Outcome ◽  
Clinical Manifestations ◽  
Neurodevelopmental Outcomes ◽  
Agenesis Of Corpus Callosum

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22. Results: In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development. Conclusion: The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.

scholarly journals Impact of Tocilizumab on Clinical Outcomes in COVID-19-Associated Cytokine Release Syndrome: A Single-Center Experience

2021 ◽  
pp. 089719002110282
Author(s):  
Karan Raja ◽  
Nicole Daniel ◽  
Susan Morrison ◽  
Ruben Patel ◽  
Jessica Gerges ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Clinical Status ◽  
Rank Test ◽  
Cytokine Release ◽  
Cytokine Release Syndrome ◽  
Single Center ◽  
Post Dose ◽  
Single Center Experience ◽  
Signed Rank Test ◽  
The Impact

Background: Tocilizumab is an interleukin-6 receptor antagonist hypothesized to blunt the uncontrolled immune response, cytokine release syndrome, in severe COVID-19 and prevent attributable morbidity and mortality. Objective: The objective of this study was to assess the impact of tocilizumab on clinical outcomes in COVID-19-associated cytokine release syndrome. Methods: Single-center, retrospective cohort study assessing sixty-nine adult patients receiving tocilizumab for suspected COVID-19 cytokine release syndrome. The primary outcome was change in WHO clinical status scale on day seven post-dose analyzed using the Wilcoxon signed rank test. Secondary outcomes assessed impact of timing of administration on clinical outcome. Safety analyses included development of neutropenia, thrombocytopenia, transaminitis, and sepsis within 7 days post-dose. Statistical analyses were conducted using Microsoft Excel. Results: No aggregate clinical change was found between day 0 and day 7. Eleven patients improved, twenty-seven worsened, and thirty-one showed no change. Clinical outcomes were weakly correlated with time from symptom onset (rs = 0.21; p = 0.08) or hospital admission (rs = -0.08; p = 0.49) to dose. In-hospital mortality was 63%. Sepsis was diagnosed in 21 patients, five of which were post-dose. Transaminitis, neutropenia, and thrombocytopenia occurred in seven, one, and six patients, respectively. Conclusion: Tocilizumab did not appear to influence clinical outcomes in our study population, irrespective of timing of administration. Adverse events were not considered drug-related.

scholarly journals Transsellar trans-sphenoidal encephalocele with cleft lip, cleft palate and agenesis of corpus callosum

2021 ◽  
Vol 16 (8) ◽  
pp. 2211-2213
Author(s):  
Prajina Pradhan ◽  
Subash Phuyal ◽  
Ritesh Lamsal ◽  
Pooja Agrawal ◽  
Raju Paudel
Keyword(s):  
Corpus Callosum ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Agenesis Of Corpus Callosum

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

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