Meatal Surgery at the Time of Circumcision for Lichen Sclerosus (LS/BXO) Does Not Reduce the Need for Later Meatal Intervention: A Retrospective Cohort Study.

PURPOSE: We describe meatal outcomes for boys undergoing circumcision to treat Lichen Sclerosus (LS/BXO) with a focus on those who underwent meatotomy/meatoplasty at circumcision and factors associated with post-circumcision meatal intervention. METHODS: Retrospective review of patients undergoing circumcision for histologically confirmed LS between 2011 and 2020. Statistical testing was by Chi2 and multivariate analysis. RESULTS: 382 patients underwent circumcision at a mean of 9.1 years (SD 2.9). At circumcision, LS on the glans was documented in 213/365 (58%). Meatal involvement was documented in 74/382 (19%); 25/382 (6.5%) had a meatotomy, 94/382 (25%) had meatal calibration/dilatation and 234/367 (64%) were prescribed post-operative topical steroids. Patients with LS glans or meatal involvement were more likely to have a meatotomy (p = 0.0013) and to receive post-operative steroids (OR 5, p = 0.0001). Post circumcision, 40/382 (10%) required a median of 1 subsequent procedure (range 1-5), 10 (2.6%) underwent dilatation, 30 (7.4%) had a meatotomy. Patients undergoing meatotomy at circumcision had an odds ratio (OR) of 1.2 for subsequent meatotomy (p = 0.027). Analysis based on requirement for any subsequent procedure identified an OR of 3.1 for having had a meatotomy at circumcision (p = 0.022) and an OR of 6.0 of receiving post-operative steroids (p=<0.001). CONCLUSIONS: Meatal stenosis following circumcision for LS requiring meatal intervention affected 10% of boys. Meatotomy at circumcision increased the likelihood of subsequent meatal intervention and is therefore not recommended. LEVEL OF EVIDENCE: Level III.

Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.

OBJECTIVE: Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face, and digits. This condition is associated with mutations in the OFD1 gene. Our objective was to recruit patients with the OFD1 clinical phenotype without genetic confirmation, aiming to identify genetic variants in the OFD1 gene. DESIGN: Three patients from 2 unrelated families were recruited into our study. We employed a variety of genomic techniques on these patients, including candidate gene analysis, array comparative genomic hybridization, whole-exome sequencing, and whole-genome sequencing. RESULTS: We investigated 3 affected patients from 2 unrelated families with a clinical diagnosis of OFD1. We discovered a novel pathogenic dominant missense mutation c.635G>C (p.Arg212Pro) in the OFD1 gene in one family. A novel frameshift, loss-of-function mutation c.306delA (p.Glu103LysfsTer42) was detected in the affected patient in the second family. CONCLUSIONS: These new genetic variants will add to the spectrum of known OFD1 mutations associated with the OFD1 disorder. Our study also confirms the variable phenotypic presentation of OFD1 and its well-recognized association with central nervous system malformations and renal anomalies. Molecular diagnostic confirmation achieved in these families will have positive implications for their medical management.

Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.

We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly. The novel DDX59 variant was identified through autozygosity studies followed by sequencing of homozygous regions identified. It affects a stop codon, extending the protein product and is therefore predicted to be pathogenic. It is only the third reported DDX59 mutation associated with OFDS reported so far.

Sacral nerve stimulation--hidden costs (uncovered).

AIM: The aim of this study is to determine the occurrence of surgical revision in a cohort of patients treated with sacral nerve stimulation (SNS) for faecal incontinence and constipation and to establish the types of procedures performed and indications for surgery. METHOD: From the years 2002 to 2014, 125 patients were identified who had undergone permanent SNS therapy with 36 (28.8 %) patients requiring surgical intervention postimplantation. These cases were retrospectively reviewed (range of follow-up 1-99 months). RESULTS: Over a total of 1512 months of SNS treatment, 51 unplanned surgical procedures were required in 36 patients. At present, 48 procedures have been performed at an average of 2.6 years following implantation and three patients are awaiting surgery. Lead-related problems accounted for 30 (58.8 %) procedures at an average of 1.7 years affecting 22 patients. Battery and implantable pulse generator-related problems attributed to 13 procedures (25.5 %) in 12 patients at an average of 5.0 years. Battery depletion occurred in seven patients at an average of 5.4 years. Surgical revision was required to replace, remove, or resite various components of the SNS system. Indications for surgery included lead damage, pain and loss or lack of SNS efficacy. Explantation was warranted in six patients due to poor SNS efficacy, pain, infection and facilitation of a magnetic resonance imaging scan. This was performed at an average of 1.6 years. CONCLUSION: A considerable proportion of patients treated with SNS therapy require surgical revision. These unplanned procedures are associated with substantial unexpected costs that financially burden SNS services.