Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies.

Background And Objectives: Complicated vascular anomalies have limited therapeutic options and cause significant morbidity and mortality. This Phase II trial enrolled patients with complicated vascular anomalies to determine the efficacy and safety of treatment with sirolimus for 12 courses; each course was defined as 28 days.

Methods: Treatment consisted of a continuous dosing schedule of oral sirolimus starting at 0.

Hepatic vascular tumors.

The most common hepatic vascular tumor in the pediatric population is the infantile hepatic hemangioma. Although these lesions have a spectrum of presentations, there are three main subtypes that have been described-focal, multifocal, and diffuse. An algorithm on the workup, treatment, and follow-up of these lesions can be based on this categorization.

Risk of incomplete pyloromyotomy and mucosal perforation in open and laparoscopic pyloromyotomy.

Background: Despite randomized controlled trials and meta-analyses, it remains unclear whether laparoscopic pyloromyotomy (LP) carries a higher risk of incomplete pyloromyotomy and mucosal perforation compared with open pyloromyotomy (OP).

Methods: Multicenter study of all pyloromyotomies (May 2007-December 2010) at nine high-volume institutions. The effect of laparoscopy on the procedure-related complications of incomplete pyloromyotomy and mucosal perforation was determined using binomial logistic regression adjusting for differences among centers.

Multicenter study of pectus excavatum, final report: complications, static/exercise pulmonary function, and anatomic outcomes.

Background: A multicenter study of pectus excavatum was described previously. This report presents our final results.

Study Design: Patients treated surgically at 11 centers were followed prospectively.

Complex vascular anomalies.

The classification system for vascular anomalies now used by experts worldwide comprises two distinct disease entities that differ in their biologic and pathologic features: vascular tumors and vascular malformations. Vascular tumors include infantile and congenital hemangiomas, tufted angiomas, and kaposiform hemangioendotheliomas. Infantile hemangiomas, the most common vascular anomaly, generally have a predetermined life cycle (proliferation and subsequent involution).

Junctional epidermolysis bullosa incidence and survival: 5-year experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator, 2007 to 2011.

Junctional epidermolysis bullosa (JEB) is a particularly devastating type of epidermolysis bullosa, especially in the newborn period. Data about the number of new cases of JEB in the United States were collected from the records of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator. Seventy-one children with JEB were reported to have been born in the 5 years between 2007 and 2011, reflecting an incidence of at least 3.

Rare late complication of the Nuss procedure: a case report.

The Nuss procedure is a surgical repair technique for pectus excavatum with fewer delayed complications reported in the current literature. We report the case of a 23-year-old male who presented after a syncopal episode during activity. Further evaluation demonstrated a fibrous band causing severe right ventricle outflow obstruction from a prior Nuss procedure.

Upper airway complications of junctional epidermolysis bullosa.

Objective: To assess the incidence of upper airway pathology in patients with junctional epidermolysis bullosa (JEB).

Study Design: We conducted a retrospective chart review of all patients with JEB who came to an interdisciplinary epidermolysis bullosa center at a tertiary care institution between 2004 and 2010.

Results: Twenty-five patients with JEB were identified, and 12 patients were seen in the otolaryngology clinic (age range, 2 months-15 years; 8 male, 4 female).

Sirolimus for the treatment of complicated vascular anomalies in children.

Background: Vascular anomalies comprise a diverse group of diagnoses. While infantile hemangiomas are common, the majority of these conditions are quite rare and have not been widely studied. Some of these lesions, though benign, can impair vital structures, be deforming, or even become life-threatening.

Increasing severity of pectus excavatum is associated with reduced pulmonary function.

Objective: To determine whether pulmonary function decreases as a function of severity of pectus excavatum, and whether reduced function is restrictive or obstructive in nature in a large multicenter study.

Study Design: We evaluated preoperative spirometry data in 310 patients and lung volumes in 218 patients aged 6 to 21 years at 11 North American centers. We modeled the impact of the severity of deformity (based on the Haller index) on pulmonary function.

Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008.

Epidermolysis bullosa (EB) has become recognized as a multisystem disorder that poses a number of pre-, intra-, and postoperative challenges. While anesthesiologists have long appreciated the potential difficult intubation in patients with EB, other systems can be affected by this disorder. Hematologic, cardiac, skeletal, gastrointestinal, nutritional, and metabolic deficiencies are foci of preoperative medical care, in addition to the airway concerns.

Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study.

Dilated cardiomyopathy (DC) has been reported in severe epidermolysis bullosa (EB) subtypes. Poor nutritional status, low carnitine levels, selenium deficiency, chronic iron overload, drugs and viral etiology have been proposed as potential contributors. This was a retrospective, descriptive, multicenter study describing EB patients that developed DC, and determining potential pre-disposing risk factors.

Epidermolysis bullosa: management of esophageal strictures and enteric access by gastrostomy.

Epidermolysis bullosa (EB) is a spectrum of rare, inherited, blistering skin disorders, primarily affecting the skin and pharyngoesophageal mucosa. EB affects approximately 2 to 4 per 100,000 children each year. Blistering and scarring occur in response to even the most minor trauma.

Prevalence of adrenal insufficiency following systemic glucocorticoid therapy in infants with hemangiomas.

Objective: To determine the prevalence of adrenal insufficiency in infants with hemangiomas following treatment with systemic glucocorticoids (GCs).

Design: Prospective study for 18 months.

Setting: Hemangioma and vascular malformation center at a tertiary care children's hospital.

Spectrum of hepatic hemangiomas: management and outcome.

Purpose: Infants with multiple cutaneous hemangiomas often present with hepatic hemangiomas. They can follow a benign clinical course or require complex management. We reviewed our experience in the management of hepatic hemangiomas.

Massive lymphatic malformations of the head, neck, and chest.

Objective: To provide clinicians with an overview of the complications and functional and clinical outcomes of children affected by massive lymphatic malformations affecting multiple sites in the head, neck, and/or chest.

Methods: We reviewed the medical records of all patients who received treatment for massive cervicofacial lymphatic malformations at our tertiary care pediatric institution during a 17-year period. Massive lesions were defined as (1) unilateral lesions that infiltrated at least 50% of two anatomic regions, including the head, neck, or chest; (2) unilateral lesions in which there was involvement of the midline structures of the head or neck; or (3) bilateral lesions in which 50% of each side was affected.

Esophageal atresia repair with thoracotomy: the Cincinnati contemporary experience.

Esophageal atresia/tracheoesophageal fistula (EA/TEF) repair using an open muscle-sparing thoracotomy has been the standard approach used in our institution. Whereas perioperative mortality is now very uncommon, short- and long-term morbidity is very common in these patients. However, the complexity of the esophageal anatomy and significant comorbidities appear to be important contributors to significant complications in these patients.

Surgical repair of pectus excavatum markedly improves body image and perceived ability for physical activity: multicenter study.

Objective: This study evaluated changes in both physical and psychosocial quality of life reported by the parent and child after surgical repair of pectus excavatum.

Methods: As part of a multicenter study of pectus excavatum, a previously validated tool called the Pectus Excavatum Evaluation Questionnaire was administered by the research coordinator, via telephone, to parents and patients (8-21 years of age) before and 1 year after surgery. Eleven North American children's hospitals participated.

Early discharge following laparoscopic appendectomy in children utilizing an evidence-based clinical pathway.

Background: The utility of laparoscopic appendectomy (LA) in children remains controversial. The determination of the efficacy of LA in children is complicated by variable postoperative management, duration of antibiotics,and criteria for discharge. The aim of this study was to examine the results of a commitment to LA and the concurrent implementation of an evidence-based clinical pathway (CP) for management appendicitis in a children's hospital.

Noninterventional treatment of selected head and neck lymphatic malformations.

Background: Indications for treatment of lymphatic malformations include disfigurement, symptoms, and infection. Patients with lymphatic malformations often undergo resection or sclerotherapy to prevent possible complications, as it has been thought that lymphatic lesions do not regress.

Methods: A retrospective analysis of all head and neck lymphatic malformations for the past 5 years was performed.

Congenital cystic lung disease: contemporary antenatal and postnatal management.

Congenital cystic lung disease comprises a broad spectrum of rare but clinically significant developmental abnormalities, including congenital pulmonary adenomatoid malformations, bronchopulmonary sequestrations, bronchogenic cysts, and congenital lobar emphysema that result from perturbations in lung and airway embryogenesis. As congenital lung lesions are now more commonly recognized antenatally, mothers require accurate prenatal counseling and appropriate perinatal management. In light of long-term complications of infection and malignancy, there is growing consensus that infants with asymptomatic lesions should undergo elective excision of congenital pulmonary adenomatoid malformation (CPAM) or bronchopulmonary sequestration (BPS).

Non-endoscopic percutaneous gastrostomy placement in children with recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is associated with high nutritional demands, esophageal strictures and dysphagia. About one quarter of the patients require gastrostomy tube placement to maintain adequate nutritional status. To minimize trauma to the skin and pharyngoesophageal mucosa caused by commonly used gastrostomy tube insertion techniques, we used a non-endoscopic, percutaneous, image-guided approach.