Reproducibility and speed of landmarking process in cephalometric analysis using two input devices: mouse-driven cursor versus pen

To define if the new portable appliances, like smartphone, iPad, small laptop and tablet can be used in cephalometric tracing without dropping out the validity of any measurement. METHODS:We investigated and compared the reproducibility and the speed of landmarks identification process on lateral X-rays in two input devices: a mouse-driven cursor and a pen used as input means in mobile devices. One expert located 22 landmarks on 15 lateral X-rays in a repeated measure design two times, at time T1 and T2, after at least one month. The Intraclass Correlation coefficient was used to evaluate the reproducibility for each landmark tracing and the agreement between the value derived from both input devices. Also, the mean errors in measurements, the standard deviation and the Friedman Test significans (P < 0.05) between both input were statistically evaluated. RESULTS:All landmarks had a high agreement and the Friedman Test indicated statistically significant differences (P<0.05) for the identification of Na, Po, Pt, PNS, Ba, Pg, Gn, UIE, UIA, APOcc and PPOcc landmarks. CONCLUSIONS:Even if the mouse input give higher agreement for landmark tracing the differences are really minimal and they can be ignored in private practice. We suggest the adequacy of pen input in clinical setting

Rapid Maxillary Expansion Affects the Spheno-occipital Synchondrosis in Youngsters A Study with Low-Dose Computed Tomography

Objective: To test the null hypothesis that the spheno-occipital synchondrosis does not show bony displacement in response to rapid maxillary expansion (RME) therapy in youngsters. Materials and Methods: A total of 16 computed tomography (CT) records were taken from 8 growing patients (2 males and 6 females), before (TO) and after (T1) treatment with RME. All patients had been diagnosed originally with transverse maxillary deficiency. The mean chronological age of the patients was 9.8 +/- 1.8 years (range, 8 to 11.4 years). High-resolution multislice multidetector CT was used to study quantitatively the extent of the opening of the spheno-occipital synchondrosis following RME. A low-dose CT scan protocol was used (80 kV, 10 mA) and the data file of each patient was transferred to a workstation where the anteroposterior width of the spheno-occipital synchondrosis was measured on axial images. Results: Before treatment with RME (TO), the anteroposterior mean width of the spheno-occipital synchondrosis was 1.73 +/- 0.46 mm immediately after the active phase of expansion (T1), and the width of the synchondrosis increased to 2.30 +/- 0.47. This difference was statistically significant according to the Wilcoxon signed rank test (P < .05). Conclusion: Rapid maxillary expansion leads to a small immediate widening of the sphenooccipital synchondrosis in youngsters. (Angle Orthod. 2010;80:106-110.

Early post-treatment changes of circumaxillary sutures in young patients treated with rapid maxillary expansion

Objective: To test the null hypothesis that circumaxillary sutures do not show bony displacement in response to rapid maxillary expansion (RME) therapy. Materials and Methods: Subjects consisted of eight growing patients (two male and six female) with Angle Class I malocclusion, bilateral posterior crossbite, transverse maxillary deficiency, deep palatal vault, and dental crowding at the start of the treatment. A Hyrax palatal expander was used for each patient, and activation protocol required the screw to be turned three times per day (0.25 mm per turn) for an average of 18 days for all subjects. Multislice computed tomography (CT) scans were performed before rapid palatal expansion (time T0) and again at the end of the active expansion phase (time T1) without removing the expander. Measurements were carried out directly on the CT image using the OsiriX Imaging software program. Data were analyzed statistically by using the Wilcoxon signed rank test. Results: All linear measurements showed an increase between T0 and T1 and RME determined a widening of suture; however, sutures far from the maxilla showed a smaller degree of disarticulation. Conclusions: The hypothesis is rejected. Early treatment with RME produced a significant bony displacement by circumaxillary suture opening. The amount of changes of sutures depends on different factors relating to the subjects and varies between different sutures, showing that sutures that articulate directly with the maxilla face a greater influence by the RME compared with those located further away. (Angle Orthod. 2011;81:36-41.

Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated&nbsp;with Nusinersen

Objective To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy.Study design Observational, longitudinal cohort study. We collected respiratory data from 118 children with type 1 spinal muscular atrophy and differing pulmonary requirements and conducted a semistructured qualitative interview among a subsample of caregivers at baseline, 6 months, and 10 months after the first nusinersen treatment. Patients were stratified according to ventilation modalities and age at study entry.Results Most patients in our cohort remained stable (84/109 = 77%). More than 80% of the children treated before age 2 years survived, in contrast to the lower survival reported in natural history studies, and did so without tracheostomy or noninvasive ventilation (NIV) &gt;= 6 hours. In those less than 2 years old, only 3 patients shifted from NIV &lt;= 10 hours to NIV &gt;10 hours, and the other 3 reduced the hours of NIV required. Most of the older patients remained stable; this included not only those on tracheostomy or NIV &gt;10 hours but also 75% of those on NIV &lt;= 10 hours.Conclusions Our results suggest that nusinersen may produce some improvement in the progression of respiratory impairment, both in terms of survival and need for respiratory support &gt;= 16 hours, especially before the age of 2 years

Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesResearch in context

Summary: Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and <8.5 kg has been reported in clinical trials. This study examines efficacy and safety predictors in a wide age (22 days–72 months) and weight (3.2–17 kg) range, also including patients previously treated with other drugs. Methods: 46 patients were treated for 12 months between January 2020 and March 2022. Safety profile was also available for another 21 patients with at least 6 month follow-up after OA infusion. 19/67 were treatment naïve when treated with OA. Motor function was measured with the CHOP-INTEND. Findings: CHOP-INTEND changes varied among age groups. Baseline score and age at OA treatment best predicted changes. A mixed model post-hoc analysis showed that in patients treated before the age of 24 months the CHOP-INTEND changes were already significant 3 months after OA while in those treated after the age of 24 months the difference was only significant 12 months after OA. Adverse events occurred in 51/67. The risk for elevated transaminases serum levels was higher in older patients. This was also true for weight and for pre-treatment with nusinersen when analysed individually. A binomial negative regression analysis showed that only age at OA treatment had a significant effect on the risk of elevated transaminases. Interpretation: Our paper describes OA 12-month follow-up showing efficacy across various age and weight groups not targeted by clinical trials. The study identifies prognostic factors for safety and efficacy in treatment selection. Funding: None

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Expanded access program with Nusinersen in SMA type

An observational study of functional abilities in infants, children, and adults with type 1 SMA

ObjectiveTo report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy.MethodsWe included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older than 2 years and 25% (31/122) older than 10 years. Patients were classified according to the severity of phenotype and to the number of SMN2 copies.ResultsPatients with the more common and the most severe phenotype older than 2 years were, with few exceptions, on noninvasive ventilation and, with increasing age, more often had tracheostomy or &gt;16-hour ventilation and a gastrostomy inserted. In contrast, 25 of the 28 patients with the mildest phenotype older than 2 years had no need for tracheostomy or other ventilatory or nutritional support. In patients older than 2 years, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were generally lower compared to those found in younger patients and showed distinct levels of functional abilities according to the severity of the phenotype. Similar findings were also observed on the Hammersmith Infant Neurological Examination.ConclusionsOur findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation &gt;16 hours and have low scores on the functional scales. More variability, however, can be expected in those with the mildest phenotype, who achieve head control. These data provide important baseline information at the time treatments are becoming available