Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.

Predictive model of neurodevelopmental outcome in neonatal hypoxic ischemic encephalopathy.

Objectives: To build an early, prognostic model for adverse outcome in infants with hypoxic ischemic encephalopathy (HIE) receiving therapeutic hypothermia (TH) based on brain magnetic resonance images (MRI), electrophysiological tests and clinical assessments were performed during the first 5 days of life.

Methods: Retrospective study of 182 neonates with HIE and managed with TH. The predominant pattern of HIE brain injury on MRI performed following cooling was scored by neuroradiologists.

Mesencephalosynapsis and aqueductal stenosis.

Mesencephalosynapsis is characterized by a failure of the dorsal brainstem colliculi to separate into distinct lateral masses (non-cleavage, a.k.a.

The ongoing range expansion of the invasive oak lace bug across Europe: current occurrence and potential distribution under climate change.

In recent years, the oak lace bug, Corythucha arcuata, has emerged as a significant threat to European oak forests. This species, native to North America, has in the last two decades rapidly extended its range in Europe, raising concerns about its potential impact on the continent's invaluable oak populations. To address this growing concern, we conducted an extensive study to assess the distribution, colonization patterns, and potential ecological niche of the oak lace bug in Europe.

Associations and outcomes of prenatally detected rhombencephalosynapsis.

Objective: To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES).

Study Design: Thirty-four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered.