398 research outputs found
Cavernous malformation of the optic chiasm: An uncommon location
Cavernous malformations (CMs) of the optic chiasm are rare lesions often presenting with acute chiasmal syndrome or a progressive visual loss. The case of a 48-year-old female with an intrachiasmatic CM is presented
Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature
Introduction: Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel-Feil malformation is extremely rare. Only 23 other cases have so far been reported, and only one case of dermoid tumor with areas of dedifferentiation on squamous cell carcinoma has been described. Case presentation: We report the case of a 72-year-old white man with a 2-year history of gait and balance disturbances. A brain magnetic resonance imaging revealed a fourth ventricle neoplastic process with infiltrative features. He was operated through a suboccipital craniectomy with a C1 laminotomy and bilateral vertebral artery transposition. At 6-months follow-up, magnetic resonance imaging showed an early regrowth of the fourth ventricle tumor, with the same radiological features. Conclusions: Patients with Klippel-Feil malformation could develop posterior fossa dermoid tumors. The malignant potential of such tumors must be considered and surgery is recommended. Particular attention must be focused on the histopathological analysis in order to identify possible foci of malignant transformation
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
Neurodevelopmental disorders (NDDs) are a group of disorders in which the development of the central nervous system (CNS) is disturbed, resulting in different neurological and neuropsychiatric features, such as impaired motor function, learning, language or non-verbal communication. Frequent comorbidities include epilepsy and movement disorders. Advances in DNA sequencing technologies revealed identifiable genetic causes in an increasingly large proportion of NDDs, highlighting the need of experimental approaches to investigate the defective genes and the molecular pathways implicated in abnormal brain development. However, targeted approaches to investigate specific molecular defects and their implications in human brain dysfunction are prevented by limited access to patient-derived brain tissues. In this context, advances of both stem cell technologies and genome editing strategies during the last decade led to the generation of three-dimensional (3D) in vitro-models of cerebral organoids, holding the potential to recapitulate precise stages of human brain development with the aim of personalized diagnostic and therapeutic approaches. Recent progresses allowed to generate 3D-structures of both neuronal and non-neuronal cell types and develop either whole-brain or region-specific cerebral organoids in order to investigate in vitro key brain developmental processes, such as neuronal cell morphogenesis, migration and connectivity. In this review, we summarized emerging methodological approaches in the field of brain organoid technologies and their application to dissect disease mechanisms underlying an array of pediatric brain developmental disorders, with a particular focus on autism spectrum disorders (ASDs) and epileptic encephalopathies
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Background: Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder,
with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in
intellectual functioning and adaptive behaviour. The identification of genetic variants causing ID and neurodevelopmental
disorders using whole-exome sequencing (WES) has proven to be successful. So far more than 1222 primary and 1127
candidate genes are associated with ID.
Methods: To determine pathogenic variants causative of ID in three unrelated consanguineous Pakistani families, we used a
combination of WES, homozygosity-by-descent mapping, de-deoxy sequencing and bioinformatics analysis.
Results: Rare pathogenic single nucleotide variants identified by WES which passed our filtering strategy were confirmed by
traditional Sanger sequencing and segregation analysis. Novel and deleterious variants in VPS53, GLB1, and MLC1, genes
previously associated with variable neurodevelopmental anomalies, were found to segregate with the disease in the three
families.
Conclusions: This study expands our knowledge on the molecular basis of ID as well as the clinical heterogeneity associated
to different rare genetic causes of neurodevelopmental disorders. This genetic study could also provide
additional knowledge to help genetic assessment as well as clinical and social management of ID in Pakistani
familie
Allergic Rhinitis and Quality of Life in Children
Allergic rhinitis is a respiratory disease caused by an inflammatory process related to IgE mediated reaction versus allergens to which the subject is sensitized. Allergic rhinitis is not an isolated disease because the nasal mucosa inflammation involves paranasal sinuses and lower airways, thus worsening the asthmatic symptoms. Recently, a new classification of allergic rhinitis based on the duration and severity of clinical symptoms has been proposed. This classification takes into consideration both the quality of life and the possible impact of the symptoms on school, work and free-time activities. Children's quality of life is severely compromised by frequent night awakenings, easy fatigue, defects of language and irritability, which can have a negative influence on learning abilities. Allergic rhinitis has a negative impact on the quality of life of the whole family because it can cause interference on social life, and financial costs
Virological rebound in human immunodeficiency virus-infected patients with or without residual viraemia: results from an extended follow-up
AbstractHuman immunodeficiency virus (HIV) -infected patients with HIV RNA loads of < 50 copies/mL were followed-up for a median (interquartile range) of 30.8 (11.7–32.9) months to study the effect of residual viraemia (RV) on virological rebound (VR). At baseline, 446 (60.3%) patients had undetectable HIV RNA (group A) and 293 (39.7%) had RV (1–49 HIV RNA copies/mL, group B) by kinetic PCR. VR occurred in 4 (0.9%) patients in group A and in 12 (4.1%) patients in group B (p 0.007). Time to VR was shorter among patients of group B (Log-rank test: p 0.003). However, the proportion of VR was extremely low also among patients with RV
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