Compound heterozygous gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature.

Objectives: The majority of congenital hypopituitarism (CH) cases remain genetically unexplained. The transmembrane receptor Roundabout-1 (), activated through interaction with SLIT-family proteins, plays crucial role in axonal guidance, branching, targeting, and midline axonal crossing. variants have been associated with pituitary stalk interruption syndrome and highly variable pituitary-phenotypes, ranging from isolated growth hormone deficiency (IGHD) to combined pituitary hormone deficiency (CPHD).

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

Background: Developmental and epileptic encephalopathy (DEE) includes diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Patients often present with movement disorders (MD). This study aims to delineate the motor phenotype in a cohort of patients with DEE.

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.

Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic forms of CPHD. However, the etiology of around 85% of the cases remains unknown.

Alberta Infant Motor Scale (AIMS) Performance of Early-Term Greek Infants: The Impact of Shorter Gestation on Gross Motor Development among "Term-Born" Infants.

Early-term birth (37 to 38 gestational weeks) may have a negative impact on infants' neurodevelopment compared to delivery at 39 weeks or beyond. The purpose of this study was to evaluate the gross motor development of early-term infants using the Alberta Infant Motor Scale (AIMS). A total of 1087 healthy infants (559 early-term and 528 full-term infants born at 39 to 41 weeks of gestation) were studied.

Development of Lower Extremity Strength in Ambulatory Children With Bilateral Spastic Cerebral Palsy in Comparison With Typically Developing Controls Using Absolute and Normalized to Body Weight Force Values.

This cross-sectional study aimed to examine the development of lower limb voluntary strength in 160 ambulatory patients with bilateral spastic cerebral palsy (CP) (106 diplegics/54 quadriplegics) and 86 typically developing (TD) controls, aged 7-16 years. Handheld dynamometry was used to measure isometric strength of seven muscle groups (hip adductors and abductors, hip extensors and flexors, knee extensors and flexors, and ankle dorsiflexors); absolute force (AF) values in pounds were collected, which were then normalized to body weight (NF). AF values increased with increasing age ( < 0.

Moderately and Late Preterm Infants: Short- and Long-Term Outcomes From a Registry-Based Cohort.

While most studies on the association of preterm birth and cerebral palsy (CP) have focused on very preterm infants, lately, attention has been paid to moderately preterm [32 to <34 weeks gestational age (GA)] and late preterm infants (34 to <37 weeks GA). In order to report on the outcomes of a cohort of moderately and late preterm infants, derived from a population-based CP Registry, a comparative analysis of data on 95 moderately preterm infants and 96 late preterm infants out of 1,016 with CP, was performed. Moderately preterm neonates with CP were more likely to have a history of N-ICU admission ( = 0.

Maternity blues: risk factors in Greek population and validity of the Greek version of Kennerley and Gath's blues questionnaire.

To validate the Greek version of Kennerley and Gath's Blues Questionnaire (BQ) and gather further knowledge on maternity blues (MB) associations with certain clinical and sociodemographic factors in Greek population. 116 postpartum women, who met the inclusion criteria, completed the Blues Questionnaire and the Edinburgh Postnatal Depression Scale on the third day after delivery. Sociodemographic and clinical data were also collected.