FOXG1 Gene and Its Related Phenotypes

2021 ◽  
Author(s):  
Giulia Pecora ◽  
Vincenzo Sortino ◽  
Viviana Brafa Musicoro ◽  
Giulia Salomone ◽  
Francesco Pizzo ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Head Circumference ◽  
Early Stage ◽  
Structural Defects ◽  
Psychomotor Development ◽  
Cell Precursor ◽  
Language Deficit ◽  
Abnormal Movements ◽  
History Of ◽  
Growth Deficit

AbstractFOXG1 is an important transcriptional repressor found in cell precursor of the ventricular region and in neurons in the early stage of differentiation during the development of the nervous epithelium in the cerebrum and optical formation. Mutations involving FOXG1 gene have been described first in subjects with congenital Rett syndrome. They can cause seizure, delayed psychomotor development, language disorders, and autism. FOXG1 deletions or intragenic mutations also determinate reduction in head circumference, structural defects in the corpus callosum, abnormal movements, especially choreiform, and intellectual retardation with no speech. Patients with duplications of 14q12 present infantile spasms and have subsequent intellectual disability with autistic features, head circumference in the normal range, and regular aspect of corpus callosum. Clinical characteristics of patients with FOXG1 variants include growth deficit after birth associated with microcephaly, facial dysmorphisms, important delay with no language, deficit in social interaction like autism, sleep disorders, stereotypes, including dyskinesia, and seizures. In these patients, it is not characteristic a history of loss of acquired skills.

scholarly journals Agenesis of the corpus callosum with interhemispheric cyst: clinical implications and outcome

2018 ◽  
Vol 11 (1) ◽  
pp. bcr-2018-227366 ◽  
Author(s):  
Krishna Gopagondanahalli Revanna ◽  
Victor Samuel Rajadurai ◽  
Suresh Chandran
Keyword(s):  
Corpus Callosum ◽  
Head Circumference ◽  
Infantile Spasm ◽  
Male Infant ◽  
Fetal Ultrasound ◽  
Neurodevelopmental Delay ◽  
History Of ◽  
Us Scan ◽  
Interhemispheric Cyst

We describe two cases of agenesis of the corpus callosum (ACC) with interhemispheric cyst (IHC). Case 1: a male infant was born at 36 weeks gestation with a history of second trimester fetal ultrasound (US) scan and MRI showing ACC with IHC. His head circumference at birth and 5 months was at 90th centile. He developed infantile spasm and electroencephalogram showed hypsarrhythmia at 5 months of age. Seizures were controlled. He is under evaluation for surgical treatment. Case 2: ACC with a midline cyst was reported in the midtrimester US scan of a male infant. Subsequent fetal scans showed increasing size of the cyst. At birth, he had macrocephaly with a head circumference above 97th centile. MRI of the brain confirmed ACC with IHC. The parents refused a cystoperitoneal shunt offered. The child displayed gross neurodevelopmental delay with progressive hydrocephalus on follow-up and succumbed to aspiration pneumonia at 22 months of age.

ABOUT THE PERIODIZATION AND CHRONOLOGY OF THE HISTORY OF TAURIC CHERSONESUS IN THE PRE-ROMAN AND THE LATE ANTIQUE PERIODS

2020 ◽  
Vol 6 (72) (3) ◽  
pp. 127-148
Author(s):  
S. V. Ushakov
Keyword(s):  
Scientific Literature ◽  
Early Stage ◽  
Late Antique ◽  
Ancient History ◽  
History Of ◽  
Transitional Time ◽  
Early Byzantine

Hundreds of scientific works are devoted to the study of the Tauric Chersonesus, but the problem of chronology and periodization of its ancient history is not sufficiently developed in historiography. Analysis of scientific literature and a number of sources concerning this subject allows to define the chronological framework and to reveal 10 stages of the history of ancient Chersonesos (as a preliminary definition). The early stage, the Foundation and formation of the Polis, is defined from the middle/last third of the VI century (or the first half of the V century BC) to the end of the V century BC. The end of the late-Antique − early-Byzantine (transitional) time in Chersonesos can be attributed to the second half of the VI – first third of the VII centuries ad).

HIGHER EDUCATION IN ANCIENT INDIA

2018 ◽  
Vol 6 (26) ◽  
Author(s):  
Satyendra Singh Chahar ◽  
Nirmal Singh
Keyword(s):  
Cultural History ◽  
Early Stage ◽  
University Education ◽  
Educational Institutions ◽  
Educational Method ◽  
Men And Women ◽  
Ancient India ◽  
Herbert Spencer ◽  
History Of ◽  
The Ideal

University education -on almost modern lines existed in India as early as 800 B.C. or even earlier. The learning or culture of ancient India was chiefly the product of her hermitages in the solitude of the forests. It was not of the cities. The learning of the forests was embodied in the books specially designated as Aranyakas "belonging to the forests." The ideal of education has been very grand, noble and high in ancient India. Its aimaccording to Herbert Spencer is the 'training for completeness of life' and ‘the molding o character of men and women for the battle of life’. The history of the educational institutions in ancient India shows a glorious dateline of her cultural history. It points to a long history altogether. In the early stage it was rural, not urban. British Sanskrit scholar Arthur Anthony Macdonell says "Some hundreds of years must have been needed for all that is found" in her culture. The aim of education was at the manifestation of the divinity in men, it touches the highest point of knowledge. In order to attain the goal the whole educational method is based on plain living and high thinking pursued through eternity.

The diagnosis of early pneumoconiosis in dust-exposed workers: comparison of chest radiography and computed tomography

2021 ◽  
pp. 028418512110225
Author(s):  
Hideyuki Hayashi ◽  
Kazuto Ashizawa ◽  
Masashi Takahashi ◽  
Katsuya Kato ◽  
Hiroaki Arakawa ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Chest Radiography ◽  
Pulmonary Emphysema ◽  
Early Stage ◽  
Pathological Changes ◽  
Occupational History ◽  
Exposed Workers ◽  
History Of ◽  
Ct Data ◽  
Positive Results

Background Chest radiography (CR) is employed as the evaluation of pneumoconiosis; however, we sometimes encounter cases in which computed tomography (CT) is more effective in detecting subtle pathological changes or cases in which CR yields false-positive results. Purpose To compare CR to CT in the diagnosis of early-stage pneumoconiosis. Material and Methods CR and CT were performed for 132 workers with an occupational history of mining. We excluded 23 cases of arc-welder’s lung. Five readers who were experienced chest radiologists or pulmonologists independently graded the pulmonary small opacities on CR of the remaining 109 cases. We then excluded 37 cases in which the CT data were not sufficient for grading. CT images of the remaining 72 cases were graded by the five readers. We also assessed the degree of pulmonary emphysema in those cases. Results The grade of profusion on CR (CR score) of all five readers was identical in only 5 of 109 cases (4.6%). The CR score coincided with that on CT in 40 of 72 cases (56%). The CT score was higher than that on CR in 13 cases (18%). On the other hand, the CT score was lower than that on CR in 19 cases (26%). The incidence of pulmonary emphysema was significantly higher in patients whose CR score was higher than their CT score. Conclusion CT is more sensitive than CR in the evaluation of early-stage pneumoconiosis. In cases with emphysema, the CR score tends to be higher in comparison to that on CT.

scholarly journals 690 Intracranial Hypotension Due to CSF Leak Secondary to Ventral Thoracic Osteophyte Complex: Resolution After Transdural Thoracic Discectomy and Dural Repair

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
B Kewlani ◽  
I Hussain ◽  
J Greenfield
Keyword(s):  
Intracranial Hypotension ◽  
Spontaneous Intracranial Hypotension ◽  
Bed Rest ◽  
Structural Defects ◽  
Csf Leak ◽  
History Of ◽  
Surgical Cure ◽  
Thoracic Discectomy ◽  
Herniated Discs

Abstract The hallmark symptom of spontaneous intracranial hypotension (SIH) is orthostatic headaches which manifests secondary to cerebrospinal fluid (CSF) hypovolaemia. Well-recognised aetiologies include trauma which includes procedures such as lumbar punctures and spinal surgery. More recently, structural defects such as bony osteophytes and calcified or herniated discs have been attributed to mechanically compromising dural integrity consequently resulting in CSF leak and symptom manifestation. A thorough literature review noted only a handful of such cases. We report the case of a thirty-two-year-old Asian female who presented with a one-month history of new-onset progressively worsening orthostatic headaches. Workup included MRI of the thoracic spine which revealed an epidural collection of CSF consequently prompting a dynamic CT-myelogram of the spine which not only helped to confirm severe cerebral hypotension but also suggested the underlying cause as being a dorsally projecting osteophyte-complex at level T2-3. Conservative and medical management including bed rest, analgesia, mechanical compression, and epidural blood patches failed to alleviate symptoms and a permanent surgical cure was eventually sought. The surgery involved T2-T3 laminectomy and osteophytectomy and at a 3-month follow-up, complete resolution of symptoms was noted.

scholarly journals Pregnancy outcomes in women with preexisting thyroid diseases: a French cohort study

2020 ◽  
pp. 1-10
Author(s):  
Marion Lecorguillé ◽  
Juliane Léger ◽  
Anne Forhan ◽  
Marie Cheminat ◽  
Marie-Noëlle Dufourg ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Gestational Diabetes ◽  
Head Circumference ◽  
Thyroid Diseases ◽  
Premature Rupture Of Membranes ◽  
Premature Rupture ◽  
Fetal Head ◽  
History Of ◽  
Multivariable Regression ◽  
Multivariable Regression Models

Abstract Women with thyroid diseases at the beginning of pregnancy may have suboptimal thyroid hormone levels because of potential difficulties in compensating for the physiological thyroid hormone changes occurring in pregnancy. Our objective was to study the association between preexisting thyroid diseases, pregnancy complications, and neonatal anthropometry. In total, 16,395 women from the ELFE French longitudinal birth cohort were included, and 273 declared pre-pregnancy thyroid diseases. Associations were investigated with multivariable regression models, with adjustment for relevant potential confounders. Body mass index (BMI) was additionally adjusted for in a second stage. As compared with other women, women with pre-pregnancy thyroid diseases were more frequently obese (19.6% vs. 9.8%) and had greater odds of gestational diabetes development (odds ratio [OR] = 1.58 [95% confidence interval [CI] 1.08, 2.30]) or had undergone treatment for infertility (OR = 1.57 [95% CI 1.07, 2.31]). After adjustment for BMI, the association with gestational diabetes was no longer significant (OR = 1.27 [95% CI 0.86, 1.88]). After excluding women with another medical history, those with pre-pregnancy thyroid diseases had increased odds of premature rupture of membranes (OR = 1.51 [95% CI 1.01, 2.25]). Children born from mothers with hypothyroidism before conception due to a disease or as a potential side effect of treatment had a smaller head circumference at birth than other children (β = −0.23 [95% CI −0.44, −0.01] cm). In conclusion, pre-pregnancy thyroid diseases were associated with risk of infertility treatment, gestational diabetes, and premature rupture of membranes. The association between history of hypothyroidism and moderate adverse effects on fetal head circumference growth needs replication.

scholarly journals Patterns of Sequelae in Women with a History of Localized Breast Cancer: Results from the French VICAN Survey

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1161
Author(s):  
Lidia Delrieu ◽  
Liacine Bouaoun ◽  
Douae El Fatouhi ◽  
Elise Dumas ◽  
Anne-Deborah Bouhnik ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Latent Class ◽  
Early Stage ◽  
Current Analysis ◽  
Functional Pain ◽  
Cognitive Sequelae ◽  
History Of ◽  
The Mean ◽  
Study Participants ◽  
Changes Over Time

Breast cancer (BC) remains complex for women both physically and psychologically. The objectives of this study were to (1) assess the evolution of the main sequelae and treatment two and five years after diagnosis in women with early-stage breast cancer, (2) explore patterns of sequelae associated with given sociodemographic, clinical, and lifestyle factors. The current analysis was based on 654 localized BC patients enrolled in the French nationwide longitudinal survey “vie après cancer” VICAN (January–June 2010). Information about study participants was collected at enrollment, two and five years after diagnosis. Changes over time of the main sequelae were analyzed and latent class analysis was performed to identify patterns of sequelae related to BC five years after diagnosis. The mean age (±SD) of study participants at inclusion was 49.7 (±10.5) years old. Six main classes of sequelae were identified two years and five years post-diagnosis (functional, pain, esthetic, fatigue, psychological, and gynecological). A significant decrease was observed for fatigue (p = 0.03) and an increase in cognitive sequelae was reported (p = 0.03). Two latent classes were identified—functional and esthetic patterns. Substantial sequelae remain up to five years after BC diagnosis. Changes in patient care pathways are needed to identify BC patients at a high risk.

scholarly journals The natural history of Canavan disease: 23 new cases and comparison with patients from literature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Annette Bley ◽  
Jonas Denecke ◽  
Alfried Kohlschütter ◽  
Gerhard Schön ◽  
Sandra Hischke ◽  
...  
Keyword(s):  
Severity Score ◽  
Canavan Disease ◽  
Psychomotor Development ◽  
Rank Test ◽  
First Year ◽  
Study Cohort ◽  
Pooled Data ◽  
Kaplan Meier ◽  
History Of ◽  
First Year Of Life

Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compared with data of CD patients reported in three prior large series. Kaplan Meier survival analysis including log rank test was performed for pooled data of 82 CD patients (study cohort and literature patients). Results Onset of symptoms was between 0 and 6 months. Psychomotor development of patients was limited to abilities that are usually gained within the first year of life. Macrocephaly became apparent between 4 and 18 months of age. Seizure frequency was highest towards the end of the first decade. Ethnic background was more diverse than in studies previously reported. A CD severity score with assessment of 11 symptoms and abilities was developed. Conclusions Early hallmarks of CD are severe psychomotor disability and macrocephaly that develop within the first 18 months of life. While rare in the first year of life, seizures increase in frequency over time in most patients. CD occurs more frequently outside Ashkenazi Jewish communities than previously reported. Concordance of phenotypes between siblings but not patients with identical ASPA mutations suggest the influence of yet unknown modifiers. A CD severity score may allow for assessment of CD disease severity both retrospectively and prospectively.

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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