Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.

Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric patient with a de novo ring chromosome 18, diagnosed by karyotype analysis and confirmed by high-resolution SNP arrays. The patient exhibited pathogenic copy number variants (CNVs) in the 18p11.

Yield of skeletal surveys in national network of child abuse pediatricians: Age is key.

Background: Skeletal surveys (SS) are recommended for the evaluation of suspected physical abuse in children <2 years old. No guidelines exist for SS completion in children between 2 and 5 years old.

Objective: To determine rates of SS completion by age and examine variables associated with occult fracture identification in older children.

Preclinical and clinical evaluation on the performance and safety of a novel energy-based device for body shaping: A pilot study.

Background: The emergence on the market of non-invasive mechanisms aimed at reducing subcutaneous fat achieving a slimming effect arouses great interest in doctors and patients. Several methods for the destruction of adipocytes are today on the market.

Aims: This is a pilot study on body fat reduction treatment, using a novel energy-based device for body shaping.

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.

Background: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2-1(*600635), and PAX9(*167416) and a distal region (RO2), including NKX2-1 and PAX9.

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.

Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the Seizures-Scoliosis-Macrocephaly syndrome (OMIM 616682) characterized by intellectual disability, facial dysmorphisms and seizures. More recently, it has been proposed to rename this disorder with the acronym AREXT2 (autosomal recessive EXT2-related syndrome). Here, we report the third family affected by AREXT2 syndrome, harboring compound missense variants in EXT2, p.

The Burden of Ionizing Radiation Studies in Children with Ventricular Shunts.

Objectives: To quantify the number of shunt-related imaging studies that patients with ventricular shunts undergo and to calculate the proportion of computed tomography (CT) scans associated with a surgical intervention.

Study Design: Retrospective longitudinal cohort analysis of patients up to age 22 years with a shunt placed January 2002 through December 2003 at a pediatric hospital. Primary outcome was the number of head CT scans, shunt series radiograph, skull radiographs, nuclear medicine, and brain magnetic resonance imaging studies for 10 years following shunt placement.

Evidence of digenic inheritance in Alport syndrome.

Background: Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot completely explain the genetic control of this disease. Therefore, we explored the possibility that Alport syndrome is under digenic control.

Nerve growth factor and its monocyte receptors are affected in kidney disease.

Nerve growth factor (NGF) plays a critical role in both physiological and pathological conditions. Their biological effects are mediated by two receptors (NGF-R): TrkA and p75. We previously reported NGF and NGF-R overexpression in various renal disorders.

Glaucoma alters the expression of NGF and NGF receptors in visual cortex and geniculate nucleus of rats: effect of eye NGF application.

We investigated the effect of glaucoma (GL) on nerve growth factor (NGF) presence in two brain visual areas. Rats with elevated intraocular pressure (EIOP), induced by hypertonic saline injection in the episcleral vein, were treated with eye topical application of saline or NGF. Rats were subsequently sacrificed, and brain tissues were used for immunohistochemical, biochemical, and molecular analyses.

Changes in plasma levels of BDNF and NGF reveal a gender-selective vulnerability to early adversity in rhesus macaques.

Early stressful events can increase vulnerability for psychopathology, although knowledge on the effectors is still limited. Here we tested the hypothesis that peripheral levels of brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF), which are involved in the response to stress and in the pathophysiology of anxiety and depression, might be affected in a non-human primate model of adverse rearing. Males and females rhesus macaques reared with their mothers (MR) or in peer-only groups (PR) were used as experimental subjects.

Nerve growth factor (NGF) and NGF-receptor expression in diseased human kidneys.

Background: Nerve growth factor (NGF) has been indicated to be critical to normal renal development in rodents. However, little is known about the expression of NGF and the high-affinity NGF receptors in human kidneys which is essential for promoting the biological and functional activities of NGF. The present study examined the presence of NGF, low-affinity (p75) and high-affinity tyrosine kinase A (TrkA) NGF receptor (NGFR) immunoreactivity in diseased human kidneys.