Naso-respiratory obstruction with mouth breathing during critical growth periods in children has a higher tendency for clockwise rotation of the growing mandible, with a disproportionate increase in anterior lower vertical face height and decreased posterior facial height.

Severity of injury from caustic ingestion damages depend on the type of ingested substance, which varies depending on ethnicity. Ingestion of caustic agents by children involves specific substances according to the season, cultural and religious festivals, and ethnicity. The majority of adult cases are intentional with more serious injuries and a higher rate of complications. In our series, ingestion of acidic substances and ingestion associated with suicide attempt had the most severe consequences.

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation, c.101-1G>C, which alters pre-mRNA splicing of ARLBP2 in blood RNA, was identified. In another family, a homozygous c.134T>G (p.Met45Arg) mutation was identified. In the mouse retina, ARL2BP localized to the basal body and cilium-associated centriole of photoreceptors and the periciliary extension of the inner segment. Depletion of ARL2BP caused cilia shortening. Moreover, depletion of ARL2, but not ARL3, caused displacement of ARL2BP from the basal body, suggesting that ARL2 is vital for recruiting or anchoring ARL2BP at the base of the cilium. This hypothesis is supported by the finding that the p.Met45Arg amino acid substitution reduced binding to ARL2 and caused the loss of ARL2BP localization at the basal body in ciliated nasal epithelial cells. These data demonstrate a role for ARL2BP and ARL2 in primary cilia function and that this role is essential for normal photoreceptor maintenance and function.

A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of USH, characterised by early-onset SNHL and a relatively mild RP. The severe retinal involvement in the double homozygotes indicates an additive effect caused by nonsense mutations in genes encoding ciliary proteins.

Olfactory function, as measured by the SIT test, was preserved with a middle-turbinate-sacrificing skull-base approach. Subjective sinonasal symptom scores were unaffected, but a slight worsening of objective endoscopic appearance was noted.

No abstract

Homozygosity for ARSG-p.D45Y in humans leads to protein dysfunction, causing an atypical combination of late-onset Usher syndrome. Although there is no evidence for generalized clinical manifestations of lysosomal storage diseases in this set of patients, we cannot rule out the possibility that mild and late-onset symptoms may appear.

Most ESS procedures can be managed without packing or any other hemostatic measures. Local anesthesia, use of local vasoconstrictors, and careful operative technique minimize the need for nose packing, thus reducing patient's discomfort, postoperative complications, and cost of surgery.