Best practices for the diagnosis and evaluation of infants with robin sequence:a clinical consensus report

Importance: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. Objective: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. Evidence Review: Based on a literature review and expert opinion, a clinical consensus report was generated. Findings: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. Conclusions and Relevance: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS

Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis

Treatment of Lymphatic Malformations With OK-432 (Picibanil):Review of the Literature

Introduction: Lymphatic malformations (LM) are benign structural defects that call cause serious complications because of their size and location. Traditionally surgical removal was the first treatment modality, but this Could be associated with many complications and risks. Since Ogita introduced OK-432 (picibanil) in 1987 as a treatment method this sclerosant has become popular. This paper is a review of the trials published so far on this topic. Patients and Methods: A literature search of English trials with 5 or more patients in it with LM who had never been treated. before was done. The paper had to use the microcystic-macrocystic classification and have a mean follow-up of more than a year to be included in this review. Results were classified as "excellent" when the lesions show a regression of more than 90%, "good" when regression is more than 50%, and "poor" when shrinkage is less than 50% (this also includes no response at all). Results: Twenty-seven percent of microcystic LMs show all excellent result; 33%, a good result; and 40%, a poor result. Of the macrocystic LMs, 88% have excellent results. Recurrence rates vary from 5% to 8%. The adverse effects are mostly mild. Discussion: Most trials have a short follow-up; therefore, there are uncertainties when it comes to cure and regression. Mostly, the adverse effects of OK-432 are trivial and disappear after a week, but the need for a temporary tracheostomy has been described. Screening for allergic reactions to penicilline is needed, with the risk of anaphylactic shock in mind. It is difficult to compare the different techniques used by the authors, and none of the trials included in this study are randomized controlled trials;, most are retrospective and were so-called level 4 studies. Conclusions: This review demonstrates that OK-432 is an effective way to treat LM. Because of a possible risk of airway obstruction, treatment should always take place in specialized treatment facilities. Macrocystic lesions show a better response to OK-432 treatment than microcystic lesions, Serious complications with OK-432 are infrequent, and this type of sclerotherapy seems to have no influence oil future surgery. We therefore suggest the use of OK-432 as all effective first-line treatment of LMs

Congenital respiratory tract disorders in 22q11.2 deletion syndrome

Objective Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome. Methods We conducted a retrospective, cross-sectional, study at a single tertiary referral center. We identified the patients with 22q11.2 deletion syndrome and with an upper and/or lower respiratory tract disorder at our otorhinolaryngologic department. The different disorders were described. Results Out of 278 patients referred to the otorhinolaryngologic department, we identified 14 patients with a laryngeal and/or tracheal disorder. Nine patients had more than one congenital disorder in this anatomical area. Disorders included a choanal stenosis (n = 1), laryngeal web (n = 5), laryngeal cleft (n = 2), subglottic stenosis (n = 3), pharyngo-, laryngo-, tracheo- and/or bronchomalacia (n = 11) and tracheal stenosis (n = 1). Conclusion Different types of respiratory tract disorders can be present in patients with 22q11.2 deletion syndrome. Clinicians should be aware of this clinical association for timely and accurate diagnosis and treatment. In addition, the diagnosis 22q11.2 deletion syndrome should be considered in patients presenting with a congenital respiratory tract disorder

Congenital respiratory tract disorders in 22q11.2 deletion syndrome

Objective Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome. Methods We conducted a retrospective, cross-sectional, study at a single tertiary referral center. We identified the patients with 22q11.2 deletion syndrome and with an upper and/or lower respiratory tract disorder at our otorhinolaryngologic department. The different disorders were described. Results Out of 278 patients referred to the otorhinolaryngologic department, we identified 14 patients with a laryngeal and/or tracheal disorder. Nine patients had more than one congenital disorder in this anatomical area. Disorders included a choanal stenosis (n = 1), laryngeal web (n = 5), laryngeal cleft (n = 2), subglottic stenosis (n = 3), pharyngo-, laryngo-, tracheo- and/or bronchomalacia (n = 11) and tracheal stenosis (n = 1). Conclusion Different types of respiratory tract disorders can be present in patients with 22q11.2 deletion syndrome. Clinicians should be aware of this clinical association for timely and accurate diagnosis and treatment. In addition, the diagnosis 22q11.2 deletion syndrome should be considered in patients presenting with a congenital respiratory tract disorder

Surgery versus endoscopic cauterization in patients with third or fourth branchial pouch sinuses : A systematic review

Objectives To systematically review the current literature on treatment of third and fourth branchial pouch sinuses with endoscopic cauterization, including chemocauterization and electrocauterization, in comparison to surgical treatment. Data Sources PubMed, Embase, and the Cochrane Library. Review Methods We conducted a systematic search. Studies reporting original study data were included. After assessing the directness of evidence and risk of bias, studies with a low directness of evidence or a high risk of bias were excluded from analysis. Cumulative success rates after initial and recurrent treatments were calculated for both methods. A meta-analysis was conducted comparing the success rate of electrocauterization and surgery. Results A total of 2,263 articles were retrieved, of which seven retrospective and one prospective article were eligible for analysis. The cumulative success rate after primary treatment with cauterization ranged from 66.7% to 100%, and ranged from 77.8% to 100% after a second cauterization. The cumulative success rate after the first surgical treatment ranged from 50% to 100% and was 100% after the second surgical attempt. Meta-analysis on electrocauterization showed a nonsignificant risk ratio of 1.35 (95% confidence interval: 0.78-2.33). Conclusions The effectiveness of cauterization in preventing recurrence seems to be comparable to surgical treatment. However, we suggest endoscopic cauterization as the treatment of choice for third and fourth branchial pouch sinuses because of the lower morbidity rate

Tracheostomy versus mandibular distraction osteogenesis in infants with Robin sequence: A comparative cost analysis

Many treatments have been described for infants with Robin sequence and severe respiratory distress, but there have not been many comparative studies of outcome and cost-effectiveness. The aim of this study was to compare the cost and complications of two common interventions - mandibular distraction osteogenesis and tracheostomy. Nine patients with isolated Robin sequence (mandibular distraction osteogenesis, n = 5, and tracheostomy, n = 4) were included in the analyses. Predetermined costs and complications were obtained retrospectively from medical records and by questionnaires to the parents over a 12-month period. Overall direct costs (admission to hospital, diagnostics, surgery, and homecare) were 3 times higher for tracheostomy (€105.523 compared with €33.482, p = 0.02). Overall indirect costs (absence from work) were almost 5 times higher (€2.543 compared with €543, p = 0.02). There was a threefold increase in overall total cost/patient (both direct and indirect) for tracheostomy (€108.057 compared with 34.016, p = 0.02) and 4 times more complications were encountered. This study shows that mandibular distraction osteogenesis in infants diagnosed with Robin sequence costs significantly less and results in fewer complications than tracheostomy, and this contributes to our current knowledge about the ideal approach for infants with Robin sequence and might provide a basis for institutional protocols in the future. © 2013 The British Association of Oral and Maxillofacial Surgeons

Nasal encephalocele in a child with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed and who was subsequently treated for a nasal encephalocele. Because the authors believe that this feature might not be an incidental finding in patients with BWS, intranasal masses in these patients should be carefully differentiated, as complications might be severe

Diffusion tensor imaging of the auditory nerve in patients with long-term single-sided deafness

A cochlear implant (CI) can restore hearing in patients with profound sensorineural hearing loss by direct electrical stimulation of the auditory nerve. Therefore, the viability of the auditory nerve is vitally important in successful hearing recovery. However, the nerve typically degenerates following cochlear hair cell loss, and the amount of degeneration may considerably differ between the two ears, also in patients with bilateral deafness. A measure that reflects the nerve's condition would help to assess the best of both nerves and decide accordingly which ear should be implanted for optimal benefit from a CI. Diffusion tensor MRI (DTI) may provide such a measure, by allowing noninvasive investigations of the nerve's microstructure. In this pilot study, we show the first use of DTI to image the auditory nerve in five normal-hearing subjects and five patients with long-term profound single-sided sensorineural hearing loss. A specialized acquisition protocol was designed for a 3T MRI scanner to image the small nerve bundle. The nerve was reconstructed using fiber tractography and DTI metrics - which reflect the nerve's microstructural properties - were computed per tract. Comparing DTI metrics from the deaf-sided with the healthy-sided nerves in patients showed no significant differences. There was a small but significant reduction in fractional anisotropy in both auditory nerves in patients compared with normal-hearing controls. These results are the first evidence of possible changes in the microstructure of the bilateral auditory nerves as a result of single-sided deafness. Our results also indicate that it is too early to assess the degenerative status of the auditory nerve of a subject-specific basis