Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.

Data-driven exploratory method investigation on the effect of dyslexia education at brain connectivity in Turkish children: a preliminary study.

Dyslexia is a specific learning disability that is neurobiological in origin and is characterized by reading and/or spelling problems affecting the development of language-related skills. The aim of this study is to reveal functional markers based on dyslexia by examining the functions of brain regions in resting state and reading tasks and to analyze the effects of special education given during the treatment process of dyslexia. A total of 43 children, aged between 7 and 12, whose native language was Turkish, participated in the study in three groups including those diagnosed with dyslexia for the first time, those receiving special education for dyslexia, and healthy children.

Lactate level is an independent predictor of mortality in patients with hematologic malignancy receiving urgent chemotherapy in intensive care unit.

Background: Intensive care unit (ICU) survival of cancer patients has improved. Urgent chemotherapy has become feasible in critically ill patients with specific organ dysfunction due to hematological malignancies.

Objective: The aim of the study was to assess ICU mortality rates and the factors associated with mortality in patients with hematologic malignancies receiving urgent chemotherapy in the ICU.

Effect of cervical and lumbosacral spina bifida cystica on volumes of intracranial structures in children.

Purpose: Spina bifida is a major disorder that occurs when the membranes of the spinal cord and medulla fail to close during the embryonic period and affects the individual for the rest of life. Some physical, mental, and social difficulties can be observed in the lives of children with spina bifida after surgery. The aim of this study is to determine what kind of volumetric changes occur in the brain when spina bifida occurs in different regions of the cord.