Brent Adler

Lateral thoracic expansion for jeune syndrome: Evidence of rib healing and new bone formation

BACKGROUND Lateral thoracic expansion is a procedure that has been described to enlarge the thoracic cage in patients with Jeunes asphyxiating thoracic dystrophy. The procedure involves separating ribs from their periosteum and plating them together in an expanded fashion with titanium struts. We have speculated that the ribs heal in this situation, despite the absence of surrounding periosteum, and that new rib formation occurs in the liberated periosteum. METHODS Radiographic studies of patients who have undergone lateral thoracic expansion were reviewed for evidence of rib healing or periosteal new bone formation. RESULTS This study presents radiologic evidence that rib healing actually occurs, as does periosteal ossification. CONCLUSIONS Lateral thoracic expansion creates additional chest wall that is formed of autologous tissue, fully healed, and not ultimately dependent on titanium struts.

Reducing computed tomography scans for appendicitis by introduction of a standardized and validated ultrasonography report template.

PURPOSE Computed tomography (CT) for the diagnosis of appendicitis is associated with radiation exposure and increased cost. In an effort to reduce the diagnostic use of CT scans, we implemented a standardized ultrasound report template based on validated secondary signs of appendicitis. METHODS In September 2012, as part of a quality improvement project, we developed and introduced a four category standardized ultrasound report template for limited right lower quadrant abdominal ultrasounds. Outcomes for patients undergoing ultrasound or CT scan for appendicitis between 9/10/2012 and 12/31/2013 (Period 2, n=2033) were compared to the three months prior to implementation (Period 1, n=304). RESULTS In Period 1, 78 of 304 (25.7%) patients had appendicitis versus 385 of 2033 (18.9%) in Period 2 (p=0.006). Non-diagnostic exams decreased from 48% to 0.1% (p<0.001). Ultrasound sensitivity improved from 66.67% to 92.2% (p<0.001). Specificity did not significantly change (96.9% to 97.69%, p=0.46). CT utilization for appendicitis decreased from 44.3% in Period 1 to 14.5% at the end of Period 2 (p<0.001). CONCLUSIONS Implementation of a standardized ultrasound report template based on validated secondary signs of appendicitis nearly eliminated non-diagnostic exams, improved diagnostic accuracy, and resulted in a striking decrease in CT utilization.

Lateral thoracic expansion for Jeune’s syndrome: midterm results

BACKGROUND In 1995, we reported the use of lateral thoracic expansion in a patient with symptomatic Jeunes asphyxiating thoracic dystrophy. We have subsequently used lateral thoracic expansion 16 times on 10 patients during 7 years. This article reports our outcomes and provides surgical details. METHODS Charts of all patients undergoing lateral thoracic expansion were reviewed. Eight of the 10 patients had symptomatic Jeunes syndrome. The other 2 had similar thoracic deformities limiting thoracic capacity. In half of the patients the procedures were performed bilaterally. RESULTS All patients older than 1 year of age were symptomatically benefited by lateral thoracic expansion. Functional and anatomic measurements documented thoracic enlargement in several patients who had comparable preoperative and postoperative studies. However, 2 infants with significant underlying airway disease did not improve and went on to succumb to that aspect of their disease despite enlargement of the thorax. Fracture of the titanium ministruts has been a recurrent problem, and we now use larger struts. CONCLUSIONS Lateral thoracic expansion is a safe and effective procedure in selected patients with Jeunes syndrome older than 1 year of age as judged by short-term and midterm follow-up. More experience and longer follow-up are required to discern the place of the lateral thoracic expansion in the overall management of these patients.

Unique diagnostic features and successful management of a patient with disseminated lymphangiomatosis and chylothorax.

Disseminated lymphangiomatosis is a rare vascular tumor characterized by a proliferation of abnormal lymphatic channels that often involves multiple organ systems. One particularly morbid manifestation of this disorder is the presence of bony lytic lesions with associated chylothorax. Because of its unusual nature, this condition is often a diagnostic and therapeutic challenge. In this report, we present the diagnostic features, including a unique radiologic finding, and successful management of a 7-year-old girl with this condition using a combination of aggressive surgery and medical treatment with interferon and pamidronate.

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children

Objective It is recognised that 5% – 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. Study objectives We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes. Results Clinical and molecular data were collected and analysed for 47 patients with PTEN mutation from 38 eligible families. Macrocephaly (average head circumference of + 5.7  SD) with developmental delay, ID and/or ASD were the most common presenting signs/symptoms (66 %). Clinical features included dermatological findings (66 %), gastrointestinal (GI) symptoms (34 %), ASD diagnosis (50 %), abnormal brain imaging (53 % of those examined) and abnormal thyroid imaging (26 %). Conclusions This is the largest survey of clinical features in children with PTEN pathogenic mutations to date. It confirms earlier reports of increased rates of neurodevelopmental disorders. Dermatological, GI and thyroid abnormalities are age dependent and may not be present at the time of diagnosis, requiring regular monitoring and medical surveillance. Early paediatric diagnosis is important for institution of medical and developmental surveillance as well as for testing other at- risk family members.

Alternative Tacrolimus and Sirolimus Regimen Associated With Rapid Resolution of Posterior Reversible Encephalopathy Syndrome After Lung Transplantation

BACKGROUND Neurotoxicity is a significant complication of calcineurin inhibitor use, and posterior reversible encephalopathy syndrome has been reported. Limited data exist on the use of alternative immunosuppression regimens in the management of posterior reversible encephalopathy syndrome in transplant recipients. METHODS We present the immunosuppression management strategy of a girl who underwent bilateral lung transplantation for cystic fibrosis 6 months earlier, then suddenly developed a grand mal seizure due to posterior reversible encephalopathy syndrome diagnosed by magnetic resonance imaging of the brain. In an effort to reduce her tacrolimus dose, an alternative immunosuppressant regimen combining tacrolimus and sirolimus was used. RESULTS After the modification of her immunosuppressant regimen, there was rapid clinical improvement with no further seizures. Her brain findings had resolved on magnetic resonance imaging 2 months later. Over the next 6 months, allograft function remained stable and surveillance transbronchial biopsies found no allograft rejection on the combined sirolimus and tacrolimus therapy. CONCLUSIONS Tacrolimus-associated neurotoxicity resolved in a lung transplant recipient with a combined tacrolimus and sirolimus regimen. This combined therapy appears to be an effective alternative for lung transplant recipients that allow them to receive the benefits of both drugs but at lower doses, which reduces the risk for adverse effects.

Standardized ultrasound templates for diagnosing appendicitis reduce annual imaging costs

BACKGROUND Ultrasound is preferred over computed tomography (CT) for diagnosing appendicitis in children to avoid undue radiation exposure. We previously reported our experience in instituting a standardized appendicitis ultrasound template, which decreased CT rates by 67.3%. In this analysis, we demonstrate the ongoing cost savings associated with using this template. METHODS Retrospective chart review for the time period preceding template implementation (June 2012-September 2012) was combined with prospective review through December 2015 for all patients in the emergency department receiving diagnostic imaging for appendicitis. The type of imaging was recorded, and imaging rates and ultrasound test statistics were calculated. Estimated annual imaging costs based on pretemplate ultrasound and CT utilization rates were compared with post-template annual costs to calculate annual and cumulative savings. RESULTS In the pretemplate period, ultrasound and CT rates were 80.2% and 44.3%, respectively, resulting in a combined annual cost of

Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

300,527.70. Similar calculations were performed for each succeeding year, accounting for changes in patient volume. Using pretemplate rates, our projected 2015 imaging cost was

MRI Utilization and the Associated Use of Sedation and Anesthesia in a Pediatric ACO

371,402.86; however, our ultrasound rate had increased to 98.3%, whereas the CT rate declined to 9.6%, yielding an annual estimated cost of

Diffuse intestinal ganglioneuromatosis in a child

224,853.00 and a savings of