Background Neonatal Lupus Erythematodus (NLE) is a rare disease occurring in offspring from mothers with anti-Ro with or without anti-La antibodies. Much is known about the individual manifestations (congenital heart block (CHB), cutaneous rash, hematologic and hepatic laboratory abnormalities and macrocephaly) but it is unclear how these and other autoantibodies (anti-dsDNA, anti-RNP and anti-...

Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

BACKGROUND Comorbidity of Autism Spectrum Disorders with seizures or abnormal EEG (Autism-Epilepsy Phenotype) suggests shared pathomechanisms, and might be a starting point to identify distinct populations within the clinical complexity of the autistic spectrum. In this study, we tried to assess whether distinct subgroups, having distinctive clinical hallmarks, emerge from this comorbid conditi...

Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth macrocephaly, distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes are also recognized, including Malan syndrome, known as type 2, which caused NFIX gene.
 Herein we present series of 3 ...

Demersal fish communities were studied on the lower continental shelf and the upper continental slope along the Pacific coast of northeastern Japan. Species composition, number and weight of each species were examined based on otter trawl samples at 45 stations. Mean density and biomass of demersal fishes were 131 ha–1 and 21 kg ha–1, respectively. The ten most abundant species comprised of abo...

The author describes and evaluates a Bayesian method to reconstruct three-dimensional toothed whale trajectories from a series of echolocation signals. Localization by using passive acoustic data (time of arrival of source signals at receptors) is assisted by using visual data (coordinates of the whale when diving and resurfacing) and tag information (movement statistics). The efficiency of the...

Abstract Introduction In utero Zika virus (ZIKV) exposure has been related to a group of congenital structural abnormalities called the syndrome, which also neurodevelopment alterations even in normocephalic children. Physical growth less explored, and delayed malnutrition have reported. Objective The objective this study is describe features infants born from cohort mothers with RT-PCR confirm...

We describe two children with complex cortical malformations as well as the typical intracranial manifestations of tuberous sclerosis complex. One child had hemimegalencephaly and the other had extensive focal megalencephaly. These cases are discussed in terms of the current concepts of cortical malformations.

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