12†The incidence, clinical features, and management of essential infantile esotropia in the United Kingdom. A British Ophthalmology Surveillance Unit (BOSU) study - Final Report.

Studies from the UK have reported declining rates of surgery for childhood esotropia. It is not known if this equates to a reduced incidence of essential infantile esotropia (EIE). A national study was undertaken through the British ophthalmology surveillance unit (BOSU) to determine the incidence presenting features and management of EIE in the UKData from a prospective national observational cohort of newly diagnosed EIE presenting to clinicians in the United Kingdom over a 12-month period was collected. Cases with a confirmed diagnosis by a clinician of a constant, non-accommodative esotropia ≥ 20 prism dioptres (PD), presenting at ≤ 12months, with no neurological or ocular abnormalities were identified through BOSU. Follow up data was collected at 12 months. Data was collected on the age, gender, ethnicity, birth history, age at diagnosis, age at intervention, angle of esotropia, refraction, associated features of amblyopia, overelevation in adduction (OEIA), latent nystagmus and dissociated vertical deviation (DVD), method of management and outcomes.During the period of observation between October 2017 to October 2018 a total of 57 cases were reported giving an incidence of EIE of 1 in 12,828 live births with a corrected incidence of 1 in 9027 live births allowing for estimated under reporting. The mean age of diagnosis and intervention were 7.05± 2.6 months (range 2 to 12 months) and 14.7± 4.9 (range 6.5-28.1 months) respectively. The majority were Caucasians 86.5% and 52.7% were female. Management was surgical in 59.6%, and botulinum toxin alone in 22.8%, 17.5% were observed. There was no significant difference in the age of presentation (P=0.6), gender (P=0.8), prematurity (P=0.5), deprivation indices (P=0.68), refraction (P=0.7), OEIA (P=0.6), DVD (P=0.7) or follow up (P=0.3) between the three groups. The preoperative angle of esotropia was smaller in the observation group (P=0.04). The post-operative angle of esotropia was not statistically significant between botulinum toxin or surgery (P=0.3) though the age of intervention was earlier in the botulinum group (P=0.007). Early intervention did not influence the motor post intervention outcomes between 0-10 prism dioptres of esotropia (P=0.78). Amblyopia (P=0.02) and latent nystagmus (P=0.009) was more common in the observation group.The incidence of EIE in the UK is considerably lower than reported in other population-based studies. The preferred method of treatment was surgical with earlier intervention in those treated with botulinum toxin. An early age of intervention did not influence motor outcomes. Parental choice and amblyopia treatment were reasons cited for conservative management in the observational group.

The presentation, clinical features, complications, and treatment of congenital dacryocystocele.

PurposeTo determine the incidence and presenting features of congenital dacryocystocele in the United Kingdom. To report on those cases complicated by dacryocystitis, respiratory compromise, and the treatment undertaken.MethodsA prospective observational study of cases of congenital dacryocystocele presenting in the United Kingdom between September 2014 and October 2015. Infants <3 months of age presenting with a cystic swelling in the medial canthal area were included. Cases were identified via the British Ophthalmology Surveillance Unit (BOSU) reporting system.ResultsA total of 49 cases were reported during the study period. This gives an incidence of 1 in 18 597 live births. There was a 71% response rate to the questionnaire. The average age at presentation was 16.94 days. Dacryocystoceles were unilateral in 91% of cases. Dacryocystitis was a complicating factor in 49% of patients and 17% had respiratory distress. Uncomplicated dacryocystocele responded well to conservative measures in 86%. Surgical intervention was required in 23% of patients. Those cases complicated by dacryocystitis (29%) and nasal obstruction (17%) were more likely to require surgical intervention compared to those with dacryocystocele alone (14%). Digital massage appears to reduce the likelihood of requiring surgical intervention. The mean time to resolution was 19 days.ConclusionsCongenital dacryocystocele is a rare presentation in the United Kingdom. Dacryocystitis and respiratory compromise commonly complicate a dacryocystocele. The use of digital massage as an early intervention is advocated and conservative measures may be sufficient in cases of uncomplicated dacryocystocele.

Capillary gas chromatography with chemical ionization negative ion mass spectrometry in the identification of odorous steroids formed in metabolic studies of the sulphates of androsterone, DHA and 5alpha-androst-16-en-3beta-ol with human axillary bacterial isolates.

The products of metabolism of the sulphates (0.5 micromol/l) of androsterone, dehydroepiandrosterone (DHA) and 5alpha-androst-16-en-3beta-ol have been investigated after incubation with 72 h cultures of human axillary bacterial isolates for 3 days at 37 degrees C. The medium used, tryptone soya broth (TSB), contained yeast extract and Tween 80. The isolates used were Coryneform F1 (known previously to metabolize testosterone and to be involved in under-arm odour (UAO) production, i.e. UAO +ve), Coryneform F46 (inactive in both the testosterone metabolism and UAO tests, i.e. UAO -ve) and Staphylococcus hominis/epidermidis (IIR3). Control incubations of TSB alone, TSB plus each of the steroid sulphates and TSB plus each of the bacterial isolates were also set up. After termination of reactions and addition of internal standards, 5alpha-androstan-3beta-ol and 5alpha-androstan-3-one (50 ng each), extracted and purified metabolites were subjected to combined gas chromatography-mass spectrometry with specific ion monitoring. Steroidal ketones were derivatized as their O-pentafluorobenzyl oximes; steroidal alcohols (only androst-16-enols in this study) were derivatized as their tert-butyldimethylsilyl ethers. Analysis was achieved by negative ion chemical ionization mass spectrometry for the pentafluorobenzyl oximes at [M-20]- and electron impact positive ion mass spectrometry for the tert-butyldimethylsilyl ethers at [M-57]+. The incubation broth contained two compounds which had gas chromatographic and mass spectrometric properties identical to those of DHA and 4-androstenedione. It was not possible, therefore, to show unequivocally that DHA sulphate (DHAS) was converted microbially into DHA, although this is implied by the finding of small quantities of testosterone and 5alpha-dihydrotestosterone in incubations with F1. With androsterone S, no free androsterone was recorded and only very small (5 pg or less) amounts of testosterone. Two odorous steroids, androsta-4,16-dien-3-one and 5alpha-androst-2-en-17-one (Steroid I) were formed (mean quantities 40 and 45 pg, respectively). The sulphate of 5alpha-androst-16-en-3beta-ol was metabolized with F1 into large quantities of the odorous steroids, 5alpha-androst-16-en-3-one and Steroid I. In addition, much smaller quantities of androsta-4,16-dien-3-one were formed. In contrast, incubations of DHAS with F46 resulted in no metabolites except, possibly, DHA, but the sulphate moiety of androsterone S was also cleaved to yield the free steroid together with large amounts of Steroid I. In incubations of DHAS and androsterone S with F1, no 16-unsaturated steroids were formed, although 5alpha-androst-16-en-3beta-yl S was de-sulphated and the free steroid further metabolized. No evidence was obtained for androst-16-ene metabolism in incubations with F46. In incubations with S. hominis/epidermidis (IIR3), androsterone S was converted into androsterone and, in high yield, to Steroid I plus some 5alpha-androst-16-en-3-one. Both DHAS and androsterone S were converted into androst-16-enols. Sulphatase activity was also manifested when 5alpha-androst-16-en-3beta-yl S was utilized as substrate with IIR3, large quantities of Steroid I and 5alpha-androst-16-en-3-one being formed, together with further metabolism of androst-16-enes. In view of the fact that both DHAS and androsterone S occur in apocrine sweat, the metabolism of these endogenous substrates by human axillary bacteria to several odorous steroids may have important implications in the context of human odour formation.

Applications of gas chromatography-mass spectrometry in the study of androgen and odorous 16-androstene metabolism by human axillary bacteria.

The known involvement of axillary microflora with under-arm odour (UAO) production led us to determine whether the odorous 16-androstene steroids are formed in the axilla by bacterial metabolism of an odourless precursor such as testosterone. Axillary bacteria from 34 men were selectively cultured for aerobic coryneform bacteria (ACB), Micrococcaceae and propionibacteria. Overnight suspensions of bacteria were incubated separately at 37 degrees C for two weeks with radiolabelled testosterone plus unlabelled testosterone (0.5 mg) and 0.5-mg quantities of 4,16-androstadien-3-one (androstadienone) and 5,16-androstadien-3 beta-ol (androstadienol). After extraction and purification by Sep-Pak cartridges and thin-layer chromatography, the eluted steroids were derivatised as the pentafluorobenzyl oximes (PFBO) and tert.-butyl dimethylsilyl (TBDMS) ethers. Saturated analogues were used as internal standards. Selected-ion monitoring electron-impact mass spectrometry was performed at the m/z corresponding to the M+.ion for the PFBO derivatives and the [M - 57]+ ion for the TBDMS ethers. Only ACB produced classical musk-like UAO (UAO + ve) in an in vitro odour-producing system with 29% being UAO -ve. ACB (UAO +ve) metabolised far more (p = 0.001) testosterone than ACB (UAO -ve), the principal metabolites being 5 alpha(beta)-dihydrotestosterone, 5 alpha(beta)-androstane-3,17-dione and 4-androstene-3,17-dione (4-androstenedione). No non-polar 16-androstenes were formed. Micrococcus luteus (ten strains) metabolised testosterone to 4-androstenedione only; propionibacterium spp. did not metabolise testosterone at all. However, incubation of 16-androstenes with ACB gave evidence for 4-ene-5 alpha(beta)-reduction, 3 alpha(beta)-oxido-reduction and epimerisation. In general the direction of transformations favoured formation of the more odorous 5 alpha-androst-16-en-3-one (5 alpha-androstenone) and 5 alpha-androst-16-en-3 alpha-ol (3 alpha-androstenol) from less odorous steroids. Such transformations, in vivo, would not require de novo synthesis of 5 alpha-androstenone or 3 alpha-androstenol and would be consistent with utilisation by ACB of 16-androstenes already present in small quantities in fresh apocrine secretions, which are odourless, to produce a more powerfully smelling mixture on the axillary skin surface.

Crohn's disease of the epiglottis, aryepiglottic folds, anus, and rectum.

A 23-year-old white women complained of sore throat and difficulty in breathing. Examination of her larynx revealed chronic inflammatory changes of the epiglottis and aryepiglottic folds, and a biopsy demonstrated chronic granulomatous reaction. Six months later she developed chronic diarrhea, rectal pain, and typical anorectal findings of Crohn's disease. Biopsy of the anus revealed the same microscopic features as in the laryngeal structures. Treatment in keeping with the acceptable but limited measures for Crohn's disease brought improvement in both areas of inflammation. We feel this patient has Crohn's disease in the larynx, involvement which preceded that of the gastrointestinal tract.