Michael J. Earley

Incidence and outcome of middle ear disease in cleft lip and/or cleft palate

OBJECTIVE Otitis media with effusion is known to be very common among children with cleft palate, however, less is known regarding the natural history and outcome in this group. The purpose of the present study was to examine the incidence, natural history, treatment, and outcome of middle ear disease in children with clefts. METHODS A questionnaire was sent to the parents of all children registered on the cleft lip and palate database at our institution. The medical records of all respondents were also reviewed. Statistical analysis of the results was performed using Fishers exact test in contingency tables and binary logistic regression analyses, where appropriate. RESULTS 397 fully completed questionnaires were returned. Ear disease was much more common in children with cleft palate, or cleft lip and palate, than in children with cleft lip. Among children with cleft palate, ear problems (infections and/or hearing loss) were most prevalent in the 4-6-year-old age group. However, ear problems persisted at a substantial level for many years after this; only after the age of 12 years did problems appear to settle. The incidence of below normal current hearing and of surgery for chronic otitis media was significantly related to history of ear infections (P=0.000 and 0.000, respectively), and to increased number of ventilation tube insertions (P=0.000 and 0.000, respectively). CONCLUSIONS Middle ear disease is common in children with cleft palate, and, unlike the case for children without clefts, has a prolonged recovery, and a substantial incidence of late sequelae. The higher incidence of below normal hearing and surgery for chronic otitis media in children undergoing a greater number of ventilation tube insertions, although most likely reflecting an increased underlying severity of otitis media in these children, also underlines the lack of long-term benefits of ventilation tubes in this group.

Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.

BACKGROUND Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folate-related genes associated with clefts have, however, often been inconclusive. This study examined four SNPs related to folate metabolism (MTHFR 677 C-->T, MTHFR 1298 A-->C, MTHFD1 1958 G-->A, and TC II 776 C-->G) in a large Irish population to clarify their relationship with clefts. METHODS Cases and their parents were recruited from major surgical centers performing cleft repairs in Ireland and a support organization. Data on risk factors, medical history, and DNA were collected. Controls were pregnant women from the greater Dublin area (n = 1,599). RESULTS CLP cases numbered 536 and CPO cases 426 after exclusions. CPO mothers were significantly more likely than controls to be MTHFR 677 TT, OR 1.50 (95% CI: 1.05-2.16; p = .03). Log-linear analysis showed a borderline association (p = .07). Isolated CPO case mothers were significantly more likely than controls to be homozygous for the MTHFD1 1958 G-->A variant, OR 1.50 (95%CI: 1.08-2.09; p = .02). When multiple cases were added, both CPO cases and case mothers were significantly more likely to be AA (p = .02 and p = .007, respectively). The CLP case-control and mother-control analyses also showed significant effects, ORs 1.38 (95% CI: 1.05-1.82; p = .03) and 1.39 (95% CI: 1.04-1.85; p = .03), respectively. CONCLUSIONS Associations were found for both CPO and CLP and MTHFD1 1958 G-->A in cases and case mothers. MTHFR 677 C-->T could be a maternal risk factor for clefts but the association was not strong. Because multiple comparisons were made, these findings require additional investigation. Given the known association between MTHFD1 1958 G-->A and NTDs, these findings should be explored in more detail.

Assessment of secondary alveolar bone grafting using a modification of the Bergland grading system

Although the management of the alveolar cleft remains controversial secondary alveolar bone grafting is the most widely accepted approach. The results of a series of 71 secondary alveolar bone grafts performed between 1990 and 2001 on 58 patients with complete cleft lip and palate 13 of which were bilateral are presented. Bone grafts were assessed when the canine tooth had fully erupted using periapical dental radiographs.The occlusal level of the newly obtained interdental bone of each grafted cleft was recorded and categorised in accordance with the Oslo grading system as described by Bergland. In addition the basal level of each bone graft was recorded. In this way total bone graft height was measured and each graft was categorised with respect to the desired normal height of noncleft interdental alveolar bone. This modified analysis grades more precisely the efficacy of secondary alveolar bone grafting and helps to identify and categorise those patients with insufficient bone for dental, orthodontic and orthognathic rehabilitation and those who may require further investigation and regrafting.

Testing reported associations of genetic risk factors for oral clefts in a large Irish study population

BACKGROUND Suggestive, but not conclusive, studies implicate many genetic variants in oral cleft etiology. We used a large, ethnically homogenous study population to test whether reported associations between nonsyndromic oral clefts and 12 genes (CLPTM1, CRISPLD2, FGFR2, GABRB3, GLI2, IRF6, PTCH1, RARA, RYK, SATB2, SUMO1, TGFA) could be confirmed. METHODS Thirty-one single nucleotide polymorphisms (SNPs) in exons, splice sites, and conserved non-coding regions were studied in 509 patients with cleft lip with or without cleft palate (CLP), 383 with cleft palate only (CP), 838 mothers and 719 fathers of patients with oral clefts, and 902 controls from Ireland. Case-control and family-based statistical tests were performed using isolated oral clefts for the main analyses. RESULTS In case-control comparisons, the minor allele of PTCH1 A562A (rs2066836) was associated with reduced odds of CLP (odds ratios [OR], 0.29; 95% confidence interval [CI], 0.13-0.64 for homozygotes), whereas the minor allele of PTCH1 L1315P (rs357564) was associated with increased odds of CLP (OR, 1.36; 95% CI, 1.07-1.74 for heterozygotes; and OR, 1.56; 95% CI, 1.09-2.24 for homozygotes). The minor allele of one SUMO1 SNP, rs3769817 located in intron 2, was associated with increased odds of CP (OR, 1.45; 95% CI, 1.06-1.99 for heterozygotes). Transmission disequilibrium was observed for the minor allele of TGFA V159V (rs2166975) which was over-transmitted to CP cases (p = 0.041). CONCLUSIONS For 10 of the 12 genes, this is the largest candidate gene study of nonsyndromic oral clefts to date. The findings provide further evidence that PTCH1, SUMO1, and TGFA contribute to nonsyndromic oral clefts.

Pierre Robin sequence: An institutional experience in the multidisciplinary management of airway, feeding and serous otitis media challenges §

OBJECTIVES To evaluate the course and prognosis of airway obstruction, feeding difficulties and hearing abnormalities in patients with Pierre Robin sequence (PRS). METHODS A retrospective review was conducted, of 69 patients with PRS, attending between 1991 and 2010 at the Childrens University Hospital in Dublin. Data regarding airway management, nutritional status and hearing difficulties was collected prospectively. RESULTS Airway obstruction requiring intervention other than positional therapy was seen in 39% (27) patients. Fifty nine percent (16/27) of these patients, who failed positional therapy, were successfully managed with a nasopharyngeal airway. Following failed intervention with nasopharyngeal airways, two patients had airway maintenance achieved with a successful glossopexy procedure. One patient had an adequate airway achieved with nasal continuous positive airway pressure. Eight patients (12%) required a surgical tracheostomy. Of those who required a tracheostomy, six patients had isolated PRS, one patient had PRS in association with Stickler syndrome and one patient had Nager acro-facial dystosis. Duration of tracheostomy tube ranged from 10 to 19 months, mean 13 months. Seventy percent (48 patients) required supplementary feeding in the form of nasogastric (NG) or gastrostomy tube. Forty-four patients were successfully managed with a temporary NG tube. One patient required a prolonged NG tube, and three required a gastrostomy tube. Twenty-one (30%) patients were successfully managed with a specialised Haberman bottle. Twenty-four patients (35%) who had their airway managed successfully by positional therapy, still required supplemental feeding. Thirty-one patients (45%) demonstrated a conductive hearing loss at some stage, which affected their speech and language development. Twenty-four patients (35%) required tympanostomy tube insertion once, while 7 (10%) of patients required ventilation tube insertion twice or more. CONCLUSION Airway management in the majority of PRS can be successfully achieved by conservative methods. Even in the presence of an adequate airway, many patients will require supplemental feeding. Early audiological assessment is necessary as many patients will need tympanostomy tube placement to ensure adequate speech and language development.

Titanium Mesh and bone dust calvarial patch during cranioplasty

A technique of filling calvarial defects using bone dust reinforced with titanium Micro Mesh (Leibinger) was investigated using plain x-ray films and computed tomography (CT) in seven consecutive patients (age range, 7-21 years). The aim of our study was to assess whether, in the presence of the titanium, bone dust harvested with a power burr promotes persistent ossification that is comparable with adjacent bone. The mesh was localized by standard skull plain x-ray films, and orthogonal CT scans were obtained at between 9 and 18 months post-operatively. An ultrahigh-resolution algorithm was used to detect neoossification on either side of the Micro Mesh (1-mm collimation, 330-mA and 120 KV(p) at the center of 400 HU, and window width of 2000 Hu). The mesh induced minimal streak artifact. Virtually no new bone formation was seen. It appears that bone dust was completely reabsorbed in this patient group even in the presence of semi-rigid fixation.

Middle ear disease in children with congenital velopharyngeal insufficiency.

Objective To examine the incidence and natural history of middle ear disease in children with congenital velopharyngeal insufficiency (VPI) without cleft palate. Setting and Subjects Children with congenital VPI attending the combined cleft clinic at a tertiary cleft center. The diagnosis of congenital VPI in all cases was confirmed be the observation of hypernasality, nasal air escape, or both by a speech and language therapist and the demonstration of incompetence of the velopharyngeal sphincter by means of nasoendoscopy or videofluoroscopy. Children with overt cleft palate or postsurgical VPI were excluded. Design The childrens medical records were reviewed, and a questionnaire regarding history of ear problems was sent to all parents. Children were divided into those with Pruzansky type I VPI (showing bifid uvula, midline diastasis of soft palate, or submucous cleft of the hard palate) and Pruzansky type II VPI (no visible stigmata). Main Outcome Measures Incidence of reported ear problems, ear infections, hearing loss, and surgical intervention for middle ear disease in the whole group and in each of the subgroups. Results Seventy-one parents returned completed questionnaires. The overall incidence of middle ear disease was 63%, with 28% reported to have below-normal hearing. There was no significant difference between children with Pruzansky types I and II VPI with respect to incidence of otopathology or hearing loss. Conclusions Irrespective of the presence of any visible palatal abnormalities, children with congenital VPI showed a substantial incidence of otopathology and should thus be closely monitored.

Peri-alar skin excision and lip advancement in the closure of lip defects

An upper lip reconstructive technique using advancement of the lateral part of the upper lip with excision of peri-alar skin has been resurrected and modified. It is useful when partial-thickness lip tissue is required in the nostril area and it replaces like tissue with like.

Long-Term Otological Outcome of Hamular Fracture During Palatoplasty

OBJECTIVE: It has been suggested that fracture of the hamulus during palatoplasty in children with cleft palate may lead to adverse otological sequelae, however, there is little evidence to support this. STUDY DESIGN AND SETTING: The otological records of 42 children with repaired cleft palate (excluding submucous cleft palate) aged 8 years old or older were examined. A questionnaire regarding the incidence, treatment, and outcome of middle ear problems was completed by the parents of 68 children with repaired cleft palate, aged 9 years old or older. RESULTS: There was no significant difference between children who did and did not undergo hamular fracture with regard to tympanic membrane appearance, audiometry, history of ear problems (P = 1.000), ear infections (P = 0.622), ventilation tube insertion (P = 0.532), or surgery for chronic otitis media (P = 1.000). Parents of children not undergoing hamular fracture reported a higher incidence of below normal hearing (P = 0.023). CONCLUSION AND SIGNIFICANCE: There is no evidence that hamular fracture during palatoplasty affects long-term otological outcome in cleft palate.

The free ‘V’: a bipennate free flap for double eyelid resurfacing based on the second dorsal metacarpal artery

We present a patient who had a basal cell carcinoma of the left upper eyelid and ectropion of the left lower eyelid. The patient underwent resection of the tumour and release of the ectropion resulting in a full thickness defect of the skin of his left upper and lower eyelids. The eyelids were reconstructed with a second dorsal metacarpal artery free flap from the left hand. For safety, a dorsal vein of the flap was arterialised and one of the valves of the vein had a valvotomy. The flap survived completely.