Eva Galliani

Physiologic and Clinical Benefits of Noninvasive Ventilation in Infants With Pierre Robin Sequence

OBJECTIVE: The objective of the study was to determine the clinical and physiologic benefits of noninvasive respiratory support (NRS) (continuous positive airway pressure or noninvasive positive pressure ventilation) for infants with a Pierre Robin sequence (PRS). METHODS: Breathing patterns, respiratory efforts, and gas exchange were analyzed for 7 infants with a PRS during spontaneous breathing and during NRS. Clinical outcomes with duration of NRS and need for a tracheotomy and/or nutritional support was evaluated. RESULTS: Compared with spontaneous breathing, breathing patterns, respiratory efforts, and transcutaneous carbon dioxide pressures improved during NRS; the mean respiratory rate decreased from 55 ± 9 to 37 ± 7 breaths per minute (P = .063), the mean inspiratory time/total duty cycle decreased from 59 ± 9% to 40 ± 7% (P = .018), the mean esophageal pressure swing decreased from 29 ± 13 to 9 ± 4 cm H2O (P = .017), the diaphragmatic pressure-time product decreased from 844 ± 308 to 245 ± 126 cm H2O-second per minute (P = .018), and the mean transcutaneous carbon dioxide pressure during sleep decreased from 57 ± 7 to 31 ± 7 mm Hg (P = .043). All of the patients could be discharged successfully from the hospital with NRS. The mean duration of NRS was 16.7 ± 12.2 months. Six patients could be weaned from nutritional support, and none required a tracheotomy. CONCLUSIONS: NRS is able to improve breathing patterns and respiratory outcomes for infants with severe upper airway obstruction attributable to a PRS, which supports its use as a first-line treatment.

FACIAL, LINGUAL, AND PHARYNGEAL ELECTROMYOGRAPHY IN INFANTS WITH PIERRE ROBIN SEQUENCE

Introduction: We evaluated the role of electromyography (EMG) in assessing orofacial neurological dysfunction in 81 infants with Pierre Robin sequence (PRS). Methods: Needle EMG of muscles of the face, tongue, and soft palate, and blink responses were recorded. A two‐channel EMG recorded sucking and swallowing during bottle feeding. Results: Neurogenic EMG signs were detected in facial or oral muscles in 17 of 24 associated PRS and 1 of 57 isolated PRS cases (P < 0.0001). Soft palate muscles showed low‐amplitude traces in 41.4% of patients who required two surgical steps for cleft palate repair and 18.5% of those who required only one step. Regarding EMG study during bottle feeding, patients with moderate or severe abnormalities of oral/pharyngeal coordination required more prolonged enteral feeding than patients with mild abnormalities or normal coordination (P = 0.002). Conclusion: Combined EMG methods were useful in the treatment of infants with PRS. EMG detection of cranial nerve involvement strongly suggests an associated form of PRS. Muscle Nerve, 2011

Five years experience with a new intraoral maxillary distraction device (RID)

Maxillary distraction osteogenesis is well established for the treatment of severe retromaxilla. We report our experience since 2004 of the treatment of 19 patients using a new intraoral maxillary distraction device. Maxillary advancement was successful in all patients with mean advancement of 9.6mm (range 4-17) measured at a point in lateral cephalograms. The new device limited surgical exposure and the amount of materials implanted, and improved control in every phase of the distraction. It was psychologically accepted by patients and was more comfortable than existing devices.

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports

Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may develop a wide range of distinctive features that include cleft lip and/or palate, cervical aplastic skin defect, malformed pinna, and ocular anomalies. This study reports four new cases confirmed by the identification of mutations in the TFAP2A gene and describes in detail the findings in the craniofacial region. The four cases included two familial and two sporadic, and three have been followed since the birth. Two out of the four cases showed atypical features. One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness. Another patient had as an additional feature a hypoplastic thumb with distal implantation.

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

BackgroundIn the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France.MethodsCentres of expertise for rare diseases record a minimum data set on their clinical cases, using a list of rare Head, Neck and Teeth diseases established in 2006. The present analysis focuses on 2008 to 2015 data based on the Orphanet nomenclature. Each rare disease RD “case” was defined by status “affected” and by the degree of diagnostic certainty, encoded as: confirmed, probable or non-classifiable. Analysed parameters, presented with their 95% confidence intervals using a Poisson model, were the following: time and age at diagnosis, proportions of crude and standardized RD prevalence by age, gender and geographical site. The criteria studied were the proportions of patients in Paris Region and the “included cases geography”, in which these proportions were projected onto the other French Regions, adjusting for local populations.ResultsIn Paris Region, estimated prevalence of these diseases was 5.58 per 10,000 inhabitants (95% CI 4.3-7.1). At December 31st 2015, 11,342 patients were referenced in total in France, of whom 7294 were in Paris Region. More than 580 individual clinical entities (ORPHA code) were identified with their respective frequencies. Most abnormalities were diagnosed antenatally. Nearly 80% of patients recorded come to Paris hospitals to obtain either diagnosis, care or follow up. We observed that the rarer the disease, the more patients were referred to Paris hospitals.ConclusionsA health network covering a range of aspects of the rare diseases problematic from diagnostics to research has been developed in France. Despite this, there is still a noticeable imbalance between health care supply and demand in this area.