Sudden infant death syndrome "Gray Zone" in newborn with pneumonia.

Sudden infant death syndrome (SIDS) "gray zone" or borderline cases are those in which it is challenging to define whether the pathological findings are sufficiently severe to lead to death. We report a case of a 17-day old male newborn who came to our attention for unexplained death. A complete autopsy was performed, including close examination of the cardiac conduction system.

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

Objectives: To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies.

Methods: The two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation. Genetic analysis included karyotype and array-CGH for both fetuses and trio-based whole exome sequencing (WES) only for the second fetus.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy.

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis.

Objective: To better clarify the pathogenesis of linezolid-induced lactic acidosis.

Design: Case report.

Setting: ICU.

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue.

Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward. Sometimes, however, results are not entirely clear and may reveal unexpected biological processes.

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be born died shortly after birth due to severe organs' malformations. The suspicion of VACTERL association was based on prenatal ultrasound assessment and postnatal features.

Atypical onset and course in a child with fulminant myocarditis.

We report a fatal case of fulminant myocarditis (FM) in a five-year-old male child. He presented to our Emergency Department having complained fever, vomiting, nausea and abdominal pain from the previous day. The ECG showed broad complex tachycardia unresponsive to treatment with both drugs and all other resuscitation measures and the child died four hours after admission.

Autoptic and echocardiographic findings in seven foetuses with congenital heart anomalies, lung lobation defects and normal visceroatrial arrangement.

Objectives: Congenital heart defects may be associated with various extracardiac and chromosomal anomalies, and complex cardiac defects may occur in the presence of heterotaxy syndromes, in which both lungs are bilobate, in left isomerism, or both trilobate, in right isomerism. Lung lobation defects are otherwise very rare. Lung lobation is recognisable only at autopsy; however, its definition is fundamental for evaluation of the visceroatrial arrangement, together with other characteristic signs.

Bacterial internalization is not sufficient to clear Pseudomonas aeruginosa infection in human fetal airway xenografts.

Background: Pseudomonas aeruginosa is an opportunistic pathogen that causes chronic endobronchial infections in cystic fibrosis (CF) patients. The role of bacterial internalization in the clearance of P. aeruginosa from the airways is controversial.

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.

Objectives: Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of the long bones and a variety of other skeletal and extraskeletal defects, many of which can now be identified prenatally using advanced ultrasound equipment. The disorder is caused by mutations in SRY-box 9 (SOX9), a gene that is abundantly expressed in chondrocytes as well as in other tissues. However, the correlation between genotype and phenotype is still unclear.

Fibrosarcoma of the jaws: two cases of primary tumors with intraosseous growth.

Fibrosarcoma (FS) is a malignant mesenchymal neoplasm of the fibroblasts that rarely affects the oral cavity. Two cases of primary FS of the jaws with intraosseous growth (2 men, aged 53 and 71 years) are described. Microscopically, in one case the tumor showed an intense proliferation of spindle-shaped cells, varying little in size and shape and arranged in parallel bands, partly crossing each other, with significant mitotic activity and nuclear pleomorphism; the second case was characterized by low cellularity comprising spindle-shaped cells, deposited in a variably fibrous and myxoid stroma.

Human fetal aorta contains vascular progenitor cells capable of inducing vasculogenesis, angiogenesis, and myogenesis in vitro and in a murine model of peripheral ischemia.

Vasculogenesis, the formation of blood vessels in embryonic or fetal tissue mediated by immature vascular cells (ie, angioblasts), is poorly understood. We report the identification of a population of vascular progenitor cells (hVPCs) in the human fetal aorta composed of undifferentiated mesenchymal cells that coexpress endothelial and myogenic markers. Under culture conditions that promoted cell differentiation, hVPCs gave rise to a mixed population of mature endothelial and mural cells when progenitor cells were stimulated with vascular endothelial growth factor-A or platelet-derived growth factor-betabeta.

Norman-Roberts syndrome: characterization of the phenotype in early fetal life.

Purpose: Our purpose is to describe the prenatal manifestation of Norman-Roberts syndrome and to expand the knowledge of the fetal phenotype of this rare condition. The recurrence in two sibs might contribute to the hypothesis of a recessive condition.

Methods: Three cases are presented in which the diagnosis was suggested by a prenatal ultrasound examination and confirmed by pathology of the fetuses, after termination of pregnancy.