scholarly journals Complete Corpus Callosum Agenesis: Can It Be Mild?

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Matteo Chiappedi ◽  
Anna Fresca ◽  
Ilaria Maria Carlotta Baschenis
Keyword(s):  
Animal Models ◽  
Corpus Callosum ◽  
Brain Plasticity ◽  
Learning Difficulties ◽  
Whole Body ◽  
Brain Malformation ◽  
Rehabilitative Treatment ◽  
Corpus Callosum Agenesis ◽  
The Family ◽  
Tailored Approach

Corpus callosum agenesis is a relatively common brain malformation. It can be isolated or included in a complex alteration of brain (or sometimes even whole body) morphology. Etiology and pathogenetic mechanisms have been better understood in recent years due to the availability of more adequate animal models and the relevant progresses in developmental neurosciences. We present the case of a girl with a complete agenesis of the corpus callosum discovered at birth. She had mild learning difficulties, but reached satisfactory levels of autonomy after an individually tailored rehabilitative treatment. Her story is discussed in light of recent findings, which emphasize the possibility to exploit brain plasticity and the utility of an individually tailored approach, defined on the basis of a dialogue with the family and the patient.

scholarly journals Does fetal MR alter the management of pregnancy in the diagnosis of isolated corpus callosum agenesis?

2020 ◽  
Vol 28 (2) ◽  
pp. 113-119
Author(s):  
Mustafa Behram ◽  
Salim Sezer ◽  
Yasemin Doğan ◽  
Züat Acar ◽  
Zeynep Gedik Özköse ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Mr Imaging ◽  
Statistical Difference ◽  
Cultural Factors ◽  
Corpus Callosum Agenesis ◽  
The Family ◽  
The Impact ◽  
Fetal Mr ◽  
Family Decisions

Objective To determine if fetal MR alters the management of pregnancy and family decisions in the isolated corpus callosum agenesis (CCA) cases or not. Methods Fetal MR was carried out in the cases diagnosed with CCA in the Perinatology Unit of our hospital between 2013 and 2019 after they were differentiated as complex and isolated CCA cases. The impact of MR results on the family decisions and their approaches towards termination were assessed. Results A total of 109 out 139 cases were evaluated as isolated CCA. While 93 (85.32%) of them were diagnosed with the complete CCA, 16 (14.68%) cases were diagnosed with the partial CCA. When the period after 2017 during which fetal MR was recommended to all patients was reviewed, it was seen that 7 (23.3%) of 30 cases who underwent fetal MR and 2 (20%) of 10 cases who did not undergo fetal MR terminated their pregnancies. There was no statistical difference between two groups in terms of the decisions of the patients for gestational termination who did and did not undergo fetal MR. Conclusion Fetal MR imaging in the isolated CCA does not change the decisions of the families for the gestational termination. In terms of the termination decision, week of gestation and socio-cultural factors may have more impacts.

scholarly journals A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

2020 ◽  
Author(s):  
Tibor Kalmár ◽  
Katalin Szakszon ◽  
Zoltán Maróti ◽  
Alíz Zimmermann ◽  
Adrienn Máté ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Corpus Callosum ◽  
Exome Sequencing ◽  
Gene Mutations ◽  
Brain Malformation ◽  
Pontocerebellar Hypoplasia ◽  
Gene Set ◽  
Corpus Callosum Agenesis

AbstractMicrolissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation and lack of any development. In the girl, exome sequencing of a gene set representing 4,813 genes revealed a homozygous AG deletion in exon 7 of the WDR81 gene, leading to a frameshift (c.4668_4669delAG, p.Gly1557AspfsTer16). The parents were heterozygous for this mutation. The boy died without proper genetic testing. Our findings expand the phenotypic and genotypic spectrum of WDR81 gene mutations.

Clinical Outcome of Children with Corpus Callosum Agenesis

2019 ◽  
Author(s):  
Vera Raile ◽  
Nina Herz ◽  
Gabriel Promnitz ◽  
Joanna Schneider ◽  
Angela Maria Kaindl
Keyword(s):  
Corpus Callosum ◽  
Clinical Outcome ◽  
Corpus Callosum Agenesis

Evaluation of the Laxative activity of Saponin Enriched Hydroethanolic Pericarp extract of Sapindus emarginatus in Animal models

2020 ◽  
Vol 16 ◽  
Author(s):  
Lalitha Vivekanandan ◽  
Roxanne Gekonge Mandere ◽  
Sivakumar Thangavel
Keyword(s):  
Animal Models ◽  
Gravimetric Analysis ◽  
Triterpene Saponins ◽  
Laxative Effect ◽  
Saponin Content ◽  
The Family ◽  
Dose Dependent Increase ◽  
Dose Dependent ◽  
Efficacious Drug

Background: Constipation is a common, predominant, chronic gastrointestinal functional disorder. The drugs available to treat constipation are limited because of their side effects in long term use. So we need of efficacious drug to treat constipation. Sapindus emarginatus Vahl belongs to the family Sapindaceae, commonly known as soapnut. Traditionally used for the antipruritic, antifertility, constipation, and anti-inflammatory agents. Objective: The present study was undertaken to evaluate the laxative activity of hydroethanolic pericarp extract of Sapindus emarginatus (HESE) in animal models. Methods: The saponin content in extract was measured by gravimetric analysis. The laxative activity of hydroethanolic pericarp extract of Sapindus emarginatus is evaluated by the weight of feces matter, charcoal meal hyperperistalsis test, and loperamide induced constipation model. Results: The saponin content of the soapnut pericarp was 13.48 % and the extract was found to be 11.92 %. The results obtained from these models showed a significant dose-dependent increase in fecal weight, peristalsis index, and moisture content compared to control animals. Conclusion: The present study concluded that the oral administration of HESE showed a significant laxative activity by using different animal models. The presence of triterpene saponins is responsible for this activity. Further studies are needed to confirm their mechanism behind the laxative effect. The administration of extract was found to be a valid candidate in constipation therapy.

scholarly journals WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

2017 ◽  
Vol 114 (44) ◽  
pp. E9308-E9317 ◽  
Author(s):  
Meghna Kannan ◽  
Efil Bayam ◽  
Christel Wagner ◽  
Bruno Rinaldi ◽  
Perrine F. Kretz ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Brain Development ◽  
Brain Connectivity ◽  
Neuronal Morphology ◽  
Dependent Manner ◽  
Wd40 Repeat ◽  
Starting Point ◽  
Neuronal Regulation ◽  
The Family ◽  
Cervical Ganglion

The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes assessed, we found 7 displaying a major impact in neuronal morphology when inactivated in mice. Remarkably, all seven genes showed corpus callosum defects, including thicker (Atg16l1, Coro1c, Dmxl2, and Herc1), thinner (Kif21b and Wdr89), or absent corpus callosum (Wdr47), revealing a common role for WDR genes in brain connectivity. We focused on the poorly studied WDR47 protein sharing structural homology with LIS1, which causes lissencephaly. In a dosage-dependent manner, mice lacking Wdr47 showed lethality, extensive fiber defects, microcephaly, thinner cortices, and sensory motor gating abnormalities. We showed that WDR47 shares functional characteristics with LIS1 and participates in key microtubule-mediated processes, including neural stem cell proliferation, radial migration, and growth cone dynamics. In absence of WDR47, the exhaustion of late cortical progenitors and the consequent decrease of neurogenesis together with the impaired survival of late-born neurons are likely yielding to the worsening of the microcephaly phenotype postnatally. Interestingly, the WDR47-specific C-terminal to LisH (CTLH) domain was associated with functions in autophagy described in mammals. Silencing WDR47 in hypothalamic GT1-7 neuronal cells and yeast models independently recapitulated these findings, showing conserved mechanisms. Finally, our data identified superior cervical ganglion-10 (SCG10) as an interacting partner of WDR47. Taken together, these results provide a starting point for studying the implications of WDR proteins in neuronal regulation of microtubules and autophagy.

The Eruption Patterns of The Teeth of Nigerian Local Pigs. Part 1: Profile of Deciduous Teeth

2021 ◽  
Author(s):  
Michael Efeturi Okandeji ◽  
Ayodeji David Lijoka ◽  
Folusho Ayobami Atiba ◽  
James Olukayode Olopade
Keyword(s):  
Animal Models ◽  
Translational Research ◽  
Deciduous Teeth ◽  
Translation Research ◽  
Dental Research ◽  
Dental Eruption ◽  
The Family ◽  
Local Pigs ◽  
Research Studies

Abstract Background: The pigs, domesticated about 6000 years ago, are highly prolific omnivores belonging to the Family Suidae and Order artiodactyla along with their other hooved counterparts. They qualify as models for various translational research studies (including dental studies) because of their anatomical and physiological similarities to humans. There is however a dearth of information as regards the deciduous dental eruption profile (sequence and timing of eruption) of the Nigerian local pigs (NLP). This study was designed to determine the deciduous eruption profile in the NLP to assist in the management of the breed and in a bid to making the NLP more obvious as suitable animal models in dental research. A total of 51 healthy piglets (from postnatal day 1) were used for this. Their oral cavities were examined every other day for 29 weeks for signs of dental eruption. Looking at Mandibular (Md) and Maxillar (Mx) eruptions for Incisors (I), Canines(C), Premolars (P) and Molars (M), the modular sequence in the NIP was Md/ Mx I3(at birth), C (at birth) →Md I1→Md P3→MxP3 →MxI1 → Md I2 →MdP4 →MxP4 →MxP2→ Md I2 →MxI2 . Result: It was observed that variations in eruption timing exist amongst individuals and sexes while variation in eruption sequence exists between NLP and various breeds of pigs based on the literature.Conclusion: The results of this study will be particularly important to farmers, and researchers into NLP especially those using pigs in Nigeria as a model for translation research.

Brain plasticity after corpus callosum transection in the newborn rat

1989 ◽  
Vol 4 (1) ◽  
pp. 25-31 ◽  
Author(s):  
N. Zečević ◽  
J. Mojsilović ◽  
B. Novaković ◽  
Lj. Rakic
Keyword(s):  
Corpus Callosum ◽  
Brain Plasticity ◽  
Newborn Rat
Sign in / Sign up

Export Citation Format

Share Document