Roger C. Nuss

MRI findings in haemophilic joints treated with radiosynoviorthesis with development of an MRI scale of joint damage

We hypothesized that magnetic resonance imaging (MRI) scans taken prior to radiosynoviorthesis may be predictive of response to the procedure in persons with haemophilia. Specifically, response would be inversely related to the severity of synovial hyperplasia. Radiosynoviorthesis was administered to 21 joints with recurrent haemorrhage (target joints). A detailed self‐report of haemorrhage history, joint evaluation with scoring according to the World Federation of Haemophilia orthopaedic joint and pain scales, plain radiographs, and MRI studies of the joints were performed pre‐ and post‐radiosynoviorthesis. To augment comparison of the MRI findings to those assessed using the Arnold‐Hilgartner and Pettersson scales, a provisional MRI scale for evaluation of haemophilic arthropathy was designed. We found the MRI findings prior to the procedure were not predictive of clinical response; independent of the severity of synovial hyperplasia, most joints bled less and showed improvement by the WFH orthopaedic score. There was generally no change in the severity of synovial hyperplasia after the procedure. We conclude that MRI evaluation is not routinely indicated prior to radiosynoviorthesis.

Endolymphatic sac tumors: Histopathologic confirmation, clinical characterization, and implication in von hippel-lindau disease†

The term “endolymphatic sac tumor” (ELST) was coined to identify the likely origin of aggressive papillary tumors of the temporal bone. To evaluate the validity of this designation, the temporal bone collection at the Massachusetts Eye and Ear Infirmary was accessed in an effort to determine the pathologic relationship between these tumors and the endolymphatic sac. The search resulted in the identification of a de‐novo papillary epithelial lesion arising within the confines of the endolymphatic sac in a patient with von Hippel‐Lindau (VHL) disease who harbored a large, destructive ELST in the opposite temporal bone. This finding provides the most substantial evidence to date regarding the origin of the ELST and the accuracy of its nomenclature.

Compatible scales for progressive and additive MRI assessments of haemophilic arthropathy

Summary.  The international MRI expert subgroup of the International Prophylaxis Study Group (IPSG) has developed a consensus for magnetic resonance imaging (MRI) scales for assessment of haemophilic arthropathy. A MRI scoring scheme including a 10 step progressive scale and a 20 step additive scale with identical definitions of mutual steps is presented. Using the progressive scale, effusion/haemarthrosis can correspond to progressive scores of 1, 2, or 3, and synovial hypertrophy and/or haemosiderin deposition to 4, 5, or 6. The progressive score can be 7 or 8 if there are subchondral cysts and/or surface erosions, and it is 9 or 10 if there is loss of cartilage. Using the additive scale, synovial hypertrophy contributes 1–3 points to the additive score and haemosiderin deposition contributes 1 point. For osteochondral changes, 16 statements are evaluated as to whether they are true or false, and each true statement contributes 1 point to the additive score. The use of these two compatible scales for progressive and additive MRI assessments can facilitate international comparison of data and enhance the accumulation of experience on MRI scoring of haemophilic arthropathy.

Late clinical, plain X-ray and magnetic resonance imaging findings in haemophilic joints treated with radiosynoviorthesis.

The clinical, plain X‐ray and magnetic resonance imaging (MRI) findings were studied in 13 haemophilic joints previously treated with radiosynoviorthesis. 32P had been injected into the joints at a median of 16 years earlier in an attempt to halt recurrent haemorrhage. Prior to 32P injection, the majority of joints demonstrated bone damage evident on plain X‐ray, secondary to recurrent haemorrhage. At the follow‐up evaluation we found plain X‐rays were adequate to identify cysts, erosions and cartilage loss in these very damaged joints. MRI was superior to clinical examination and plain X‐ray in identifying synovial hyperplasia and effusions.

Reliability of progressive and additive MRI scoring systems for evaluation of haemophilic arthropathy in children: Expert MRI working group of the International Prophylaxis Study Group

Summary.  Effective treatment of haemophilic arthropathy requires a detailed evaluation of joint integrity. Methodological assessment of magnetic resonance imaging (MRI) scores are needed to assure reproducibility of measurements when comparing results of clinical trials conducted in different centres. We compared the reliability of two MRI scoring systems for assessment of haemophilic arthropathy: one progressive system that displays the most severe change and one additive system that depicts osteochondral and soft tissue‐related changes. A total of 47 1.5 T MRI examinations of knees (n = 21) and ankles (n = 26) of 42 haemophilic boys, age range, 22 months to 18 years, performed at different centres (Toronto, n = 20, Europe, n = 12 and Denver, n = 15) were independently reviewed by four radiologists at two occasions. Twenty‐two examinations were from children <9 years and 25 from children ≥9. Sagittal and coronal gradient‐echo (MPGR, 3D FLASH with fat saturation, GRASS) images were obtained. The MRI examinations of the ankle and knee studies presented with osteochondral abnormalities in 38.5% and 23.8% of the cases respectively. The two scoring systems demonstrated an excellent inter‐reader [progressive, 0.88; additive (A, e, s and h components), 0.86] and intra‐reader [progressive, 0.92; additive (A, e, s and h components), 0.93] reliability using intraclass correlation coefficients (ICCs). Although ICCs were slightly higher for knees when compared with ankles, and for older children when compared with younger children, all values fell within excellent inter‐ and intra‐reader reliability categories. The two MRI scoring systems demonstrated a comparable reliability. This result constitutes the basis for further development of a combined MRI scoring system for assessment of haemophilic arthropathy, which incorporates progressive and additive components.

Physical therapy and imaging outcome measures in a haemophilia population treated with factor prophylaxis: current status and future directions

Summary.  Routine infusions of factor VIII to prevent bleeding, known as prophylaxis, and other intensive therapies are being more broadly applied to patients with haemophilia. These therapies differ widely in replacement product usage, cost, frequency of venous access and parental effort. In order to address residual issues relating to recommendations, implementation, and evaluations of prophylaxis therapy in persons with haemophila, a multinational working group was formed and called the International Prophylaxis Study Group (IPSG). The group was comprised of haemophilia treaters actively involved in studies of prophylaxis from North America and Europe. Two expert committees, the Physical Therapy (PT) Working Group and the Magnetic Resonance Imaging (MRI) Working Group were organized to critically assess existing tools for assessment of joint outcome. These two committees independently concluded that the WFH Physical Examination Scale (WFH PE Scale) and the WFH X‐ray Scale (WFH XR Scale) were inadequately sensitive to detect early changes in joints. New scales were developed based on suggested modifications of the existing scales and called the Haemophilia Joint Health Score (HJHS) and the International MRI Scales. The new scales were piloted. Concordance was measured by the intra‐class correlation coefficient of variation. Reliability of the HJHS was excellent with an inter‐observer co‐efficient of 0.83 and a test‐retest value of 0.89. The MRI study was conducted using both Denver and European scoring approaches; inter‐reader reliability using the two approaches was 0.88 and 0.87; test‐retest reliability was 0.92 and 0.93. These new PT and MRI scales promise to improve outcome assessment in children on early preventive treatment regimens.

Predictors of velopharyngeal insufficiency after Le Fort I maxillary advancement in patients with cleft palate.

PURPOSE Approximately 25% to 40% of patients with cleft lip/palate develop maxillary retrusion that requires Le Fort I osteotomy. Maxillary advancement brings the soft palate forward, and this may cause velopharyngeal insufficiency (VPI). The goal of this study was to identify predictors that place patients with repaired cleft palate at risk of developing VPI after Le Fort I advancement. MATERIALS AND METHODS This was a retrospective study of nonsyndromic patients with cleft lip/palate who had a Le Fort I osteotomy between 2000 and 2008. Charts were reviewed and data were collected on patient characteristics, preoperative speech assessments, and nasopharyngoscopic reports. Pre- and postoperative cephalometric radiographs were used to measure maxillary advancement and to assess the structure of the velopharynx. Simple logistic regression analysis examined the association between each predictive variable and postoperative VPI, as indicated by need for pharyngeal flap. Predictors with P ≤ .10 were included in the multivariate regression model. In both the univariate and the multivariate analyses, P ≤ .05 was considered statistically significant. RESULTS Univariate analysis showed a significant association between preoperative soft palatal length and need for a pharyngeal flap (P = .005). By multivariate analysis, both preoperative soft palatal length and postoperative pharyngeal depth were associated with need for pharyngeal flap (P = .003 and P = .030). CONCLUSION This study shows that a short soft palate is associated with VPI after Le Fort I osteotomy. Assessment of palatal length and pharyngeal depth on cephalometric radiographs is helpful in predicting postoperative VPI and need for a pharyngeal flap in patients with cleft palate after maxillary advancement.

Upper Airway Anomalies in Congenital Tracheoesophageal Fistula and Esophageal Atresia Patients.

Objective: To examine the prevalence of upper airway anomalies in patients diagnosed with congenital tracheoesophageal fistula and esophageal atresia (TEF/EA). Methods: A retrospective review was conducted of all TEF/EA patients seen at a tertiary pediatric hospital between January 2008 and December 2013. Inclusion criteria included evaluation by the otolaryngology service. Exclusion criteria included age >18 years, acquired TEF/EA, subsequent rule out of TEF/EA, and otolaryngology evaluation for reasons not pertaining to the airway. Data collected and analyzed included demographics, comorbidities, presenting symptoms, surgical interventions, laryngoscopic and bronchoscopic examinations, and subsequent medical and surgical management. Results: Four hundred and thirty patients were diagnosed with TEF/EA at our institution. In all, 32.3%, or 139 children, were included in the analysis; 56.1% (n = 78) male, 43.9% (n = 61) female. Of the analyzed patients, 4.3% (n = 6) were diagnosed with laryngomalacia. Eighteen patients (12.9%) were diagnosed with subglottic stenosis. Thirty (21.6%) had vocal fold paresis or immobility. Laryngeal cleft was diagnosed in 25.9% (n = 36). Tracheomalacia was the most common airway finding, diagnosed in 37.4% (n = 52) patients. Conclusion: Patients diagnosed with congenital TEF/EA have a high rate of secondary upper airway anomalies. Consideration should be given to perform a complete airway evaluation in all of these patients.

A grading scale for pediatric vocal fold nodules.

Objective To design a grading scale for vocal fold nodules in pediatric patients. Study Design and Setting We conducted a prospective study in which a grading scale for vocal nodule size and contour based on static fiberoptic images of pediatric larynges was developed to achieve the scale presented here. Results Twenty-eight health care professionals each rated 28 images of pediatric vocal fold nodules. The intraclass correlation for nodule size was strong (0.77; 95% confidence interval, 0.67–0.87). The κ statistic for nodule contour was mild (0.35; 95% confidence interval, 0.33–0.37). Agreement between experienced and other raters found no significant difference for the nodule size or contour grade of a given image. Conclusions A grading scale for pediatric vocal fold nodules is presented. Interrater reliability for nodule size is high and can be reliably used by health care professionals with varying levels of experience. Significance A validated grading scale facilitates objective analysis of outcomes when studying and following patients with vocal nodules.

Perceptual voice characteristics in pediatric unilateral vocal fold paralysis.

OBJECTIVE: To describe the voice characteristics of pediatric unilateral vocal fold paralysis (UVFP). STUDY DESIGN AND SETTING: Retrospective series from a childrens hospital, 1996 to present. RESULTS: Forty-two patients with a mean age of 7.1 years were diagnosed with UVFP in our voice clinic (prevalence = 5.4%). Paralysis was left sided in 88%, and was most commonly seen after cardiac surgery (28.5%) and prolonged intubation/prematurity (16.7%). Voice analysis showed a moderate degree of breathiness, mild-to-moderate hoarseness and straining, mild muscle tension, and soft loudness. Twenty-six percent of patients required surgical intervention, including injection into the paralyzed fold (7 patients) and medialization thyroplasty (4 patients). Pre-operatively, breathiness was worse (P < .05) in patients undergoing surgical intervention. CONCLUSIONS: Voice characteristics of pediatric UVFP include increased breathiness, hoarseness, straining, muscle tension, and soft loudness. One-fourth of patients underwent surgical intervention; breathiness was the predominant abnormal voice characteristic in the operative cohort. SIGNIFICANCE: The voice characteristics of pediatric patients with UVFP are described. EBM rating: C-4