Subglottic stenosis is considered one of the most complex and challenging aspects of pediatric otolaryngology, with the most common etiology being prolonged endotracheal intubation. The surgical treatment of SGS can be either endoscopic or open, but recent advances have pushed the limits of the endoscopic approach so that in practice an open laryngotracheal surgical approach is considered only ...

In humans, the most common genomic disorder is a hemizygous deletion of a 1.5-3 Mb region of chromosome 22q11.2. The resultant 22q11.2 deletion syndrome (22q11.2DS) can affect multiple organ systems, and most notably includes cardiac, craniofacial, and neurodevelopmental defects. Individuals with 22q11.2DS have a 20-25-fold risk of developing schizophrenia compared to individuals from the gener...

It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transme...

BACKGROUND 22q11.2 deletion syndrome (22q11.2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. METHODS We investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11.2DS (65 m, 73 F; mean age 34.2, SD 11.8, years) using labora...

Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...

OBJECTIVE To determine whether premature sagittal craniosynostosis is associated with developmental instability in the skull by analyzing fluctuating asymmetry in skull shape. DESIGN Cranial shape was quantified by collecting coordinate data from landmarks located on three-dimensional reconstructions of preoperative computed tomography (CT) images of 22 children with sagittal craniosynostosis...

OBJECTIVE To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS). METHOD A total of 70 youth with VCFS, 27 siblings of youth with VCFS, and 25 community controls were followed from childhood (mean age = 11.8 years) into mid-adolescence (mean age = 15.0 years). Psychological tests measuring intelligence, academic achievement, learning/memory, attention, and executi...

Acquired subglottic stenosis (a SGS) continues to pose great challenge to patients and clinicians due to lack of effective treatment strategies. Our understanding in pathophysiology of a SGS has significantly advanced in the past decades; however, much still remains to be elucidated. The purpose of this review is to describe current state of research in acquired subglottic stenosis, and discuss...

I was interested to read the report of Goodship et al (J Med Genet 1995;32:746-8) of monozygotic (MZ) twins with a 22ql deletion who were discordant for cardiac defects. I have recently met a similar family where all the affected members have had a 22ql deletion detected by FISH. Twin 1 has a typical facial appearance of the velocardiofacial syndrome (figure) with nasal speech but no cardiac de...

Manganese dioxide nanosheet arrays with interconnected arrangements are easily synthesized on vapor grown carbon fibers (MnO2 NSAs@VCFs) by a simple wet-chemical method at low temperature. The conductive nature of the VCFs serves as a scaffold and easily reduces potassium permanganate species for the formation of hierarchical MnO2 NSAs@VCFs. When utilized as an electroactive material for pseudo...