Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.

Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum of phenotypes depending on the gene damaged. To date, the PIGP gene has only been related to Developmental and Epileptic Encephalopathy 55 (MIM#617599) in just seven patients. A detailed medical history was performed in two affected siblings with a multiple malformation syndrome.

Longitudinal perturbations of plasma nuclear magnetic resonance profiles in neonatal encephalopathy.

Background: Neonatal encephalopathy (NE) is a major cause of mortality and severe neurological disability in the neonatal period and beyond. We hypothesized that the degree of brain injury is reflected in the molecular composition of peripheral blood samples.

Methods: A sub-cohort of 28 newborns included in the HYPOTOP trial was studied.

Do Levels of Lipid Peroxidation Biomarkers Reflect the Degree of Brain Injury in Newborns?

The pathogenesis and progression of hypoxic-ischemic encephalopathy (HIE), a major cause of severe neurological disability and mortality in the perinatal period, are shaped by the interplay of multiple processes, including inflammation, oxidative stress, and excitotoxicity. We conducted a longitudinal study to determine biomarkers of oxidative stress and inflammation in noninvasive urine samples of newborns with moderate/severe HIE ( = 51), employing liquid chromatography-mass spectrometry. We noted that levels of several biomarkers of oxidative stress increased over time, demonstrating the ongoing propagation of oxidative injury.

Cranial ultrasound for beginners.

Cranial ultrasound (CUS) is an extremely valuable tool to evaluate the brain during the first year of life, in experienced hands. It is the initial screening imaging tool to evaluate the infants' brain and complementary to the use of computed tomography (CT) and magnetic resonance imaging (MRI). It is an accessible, inexpensive and harmless technique that can be used bedside as frequently as needed.

Noninvasive monitoring of evolving urinary metabolic patterns in neonatal encephalopathy.

Background: Infants with moderate and severe neonatal encephalopathy (NE) frequently suffer from long-term adverse outcomes. We hypothesize that the urinary metabolome of newborns with NE reflects the evolution of injury patterns observed with magnetic resonance imaging (MRI).

Methods: Eligible patients were newborn infants with perinatal asphyxia evolving to NE and qualifying for therapeutic hypothermia (TH) included in the HYPOTOP trial.

Quantitative Evaluation of Neonatal Brain Elasticity Using Shear Wave Elastography.

Objectives: To demonstrate the feasibility of 2-dimensional brain ultrasound shear wave elastography (SWE) and to define the average elasticity values of the gray and white matter in term neonates.

Methods: This work was a prospective observational single-center study including 55 healthy term neonates consecutively recruited in the maternity ward between the second and third postnatal days. All were successfully evaluated with a cerebral SWE examination performed with a multifrequency 4-9-MHz transducer.

Metabolic Phenotypes of Hypoxic-Ischemic Encephalopathy with Normal vs. Pathologic Magnetic Resonance Imaging Outcomes.

Hypoxic-Ischemic Encephalopathy (HIE) is one of the most relevant contributors to neurological disability in term infants. We hypothesized that clinical outcomes of newborns with (HIE) can be associated with changes at plasma metabolic level enabling the detection of brain injury. Plasma samples of a cohort of 55 asphyxiated infants who evolved to moderate/severe HIE were collected between birth and completion of therapeutic hypothermia (TH).

Enteric duplication cysts in children: varied presentations, varied imaging findings.

Enteric duplication cysts (EDCs) are rare congenital malformations formed during the embryonic development of the digestive tract. They are usually detected prenatally or in the first years of life. The size, location, type, mucosal pattern and presence of complications produce a varied clinical presentation and different imaging findings.

Mesenchymal hamartoma: prenatal and postnatal diagnosis by imaging.

We present a case of a twin pregnancy in which one fetus developed a rapidly growing unilateral intrathoracic tumor. While a cystic adenomatoid malformation was suspected in the ultrasound scan, the magnetic resonance scan suggested a pulmonary blastoma or a bronchioalveolar carcinoma. Postnatal chest radiography and contrast-enhanced computed tomography of the affected newborn were performed, and it was ruled out the possibility of malignant origin.