Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in infertile men with severe oligozoospermia or azoospermia. Herein, we discuss the possible explanation for this unusual genotype-phenotype correlation. We suggest that the deletion of the BPY2 (previously VCY2) gene, located in the AZFc region and involved in spermatogenesis, contributed to the genesis of the phenotype. In fact, BPY2 interacts with a ubiquitin-protein ligase, involved in the SHH pathway which is known to be implicated in the genesis of VACTERL association.

Unmet needs in children with diabetes: the role of basal insulin.

The goal of insulin therapy in people affected by type 1 diabetes mellitus consists in achieving an optimal metabolic control and so HbA1c levels below 7.5%, according to the conclusions of relevant scientific studies. In any case it seems that this target is far from being achieved, mostly in the pediatric population. However, many important pharmacological, technological and cultural milestones have been placed both in therapy and management of insulin-dependent diabetes even if the gap between growing knowledge in these fields and its application in daily clinical practice appears still too wide. A fundamental component of these advancements concerns the design of new insulin basal analogues; molecules used to realize a basal-bolus model of therapy with MDI scheme. Degludec insulin has been recently approved for the pediatric utilization (aged 1 to 17 years). A registration trial for pediatric population (aged 6 to 17 years) is in progress for glargine U-300 insulin. These two insulin types have different biochemical and pharmacological properties and they represent two different ways to achieve the ideal basal analogue. Insulin degludec and insulin glargine U-300 are the newest basal analogues and each of them has proper pharmacokinetic and pharmacodynamic characteristics. Their characteristics represent an effort to create the ideal solution. The aim of this review is to summarize the pharmacokinetic and pharmacodynamic properties of these new insulins, to list the most significant scientific findings regarding their pharmacology as well as clinical uses, with particular reference to the pediatric population in order to declare them to clinical experience and to report data on an initial experience with these analogues, especially with degludec insulin. Once again, evolution goes through the specialized training of the staff involved in the care of the diabetic patient and the constant education of the latter.

A case of congenital hypothyroidism in PHACE syndrome.

Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.

Neonatal diagnosis of Marcus Gunn jaw-winking syndrome.

This report highlights the importance for neonatologists/pediatricians of considering Marcus Gunn jaw-winking syndrome among differential diagnoses of ptosis. A detailed clinical assessment is crucial to promptly recognize and appropriately manage it.

A case report of confusing meningoencephalocele.

The clinical approach plays a pivotal role in neonates with evidence of a skull mass, together with the need of monitoring unclear cases. Indeed, apparently transient alterations of the skull may be neural tube defects, which need prompt treatment.

Genital sanguineous discharge in prepuberty: a case of mullerian papilloma of vagina in a nine-year-old girl.

Vaginal bleeding in prepuberty is an alarming symptom that must be carefully investigated. Among quite common causes of genital sanguineous discharge, there are rarer conditions responsible for bleeding at this age like Mullerian papilloma of the genital tract. In this report, we describe a case of Mullerian papilloma of the vagina in a 9-year-old girl. We believe in the importance of a correct clinical setting and histological definition to avoid wrong diagnosis and consequent inadequate treatments. Mullerian papilloma, a benign tumor, can in fact be treated only with local excision.

A new de novo mutation in the GCK gene causing MODY2.

Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs). No mutation was detected in the parents. Polymorphic markers' study excluded false paternity indicating that c.382delG is a novel de novo mutation.

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A. For IVS4nt-1G>T the sequence analysis of RT-PCR products demonstrated exon skipping with the use of a cryptic splicing site.