The case of the unwanted crystal: a case of pediatric pulmonary Actinomyces Odonolyticus.

This case report is one of the only known cases of Actinomyces odontolyticus causing thoracic disease in an immunocompetent pediatric patient. This case also exemplifies how bronchoscopy was able to remove the nidus of infection and prevent the potential for significant morbidity associated with a lobectomy.

Wiskott-Aldrich Syndrome: Description of a New Gene Mutation With Normal Platelet Volume.

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125_1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.

Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time.

Newly implemented newborn screening (NBS) programs in California have resulted in a large subset of patients in whom at least two cystic fibrosis transmembrane conductance regulator (CFTR) mutations are identified, but subsequent sweat chloride analysis reveals normal or indeterminate values. These patients are diagnosed with CFTR-Related Metabolic Syndrome (CRMS). However, the natural progression and management of these patients are not clearly understood and frequently after the age of 1-year these patients are lost to follow-up with Cystic Fibrosis (CF) Centers. We present the first case of an infant who was referred to Miller Children's Hospital for a NBS positive for CF and subsequent discovery of identical mutations in six of his seven older brothers. Several siblings had positive sweat chloride results on repeat testing after the age of 3 years. We suggest the need for continued follow-up of CRMS in a CF center with diagnostic evaluation including repeat sweat chloride testing, beyond the currently recommended period.

Clinical significance of respiratory isolates for Mycobacterium abscessus complex from pediatric patients.

Mycobacterium abscessus complex is the most virulent of rapidly growing mycobacteria causing invasive lung disease. To better delineate clinical pediatric experience and outcomes with M. abscessus complex, we retrospectively gathered 5-year data on M. abscessus complex infection and outcomes in a large, hospital-based pediatric pulmonary center. Patients were selected from the database of the microbiology department at Miller Children's Hospital in Long Beach, CA. Patients had at least one positive pulmonary isolate for M. abscessus complex from February 2006 to May 2011. Treatment modality data were collected and successful therapy of disease was determined as clearance of M. abscessus complex infection after antibiotics proven by culture negative respiratory isolate within at least 12 months of therapy initiation. Two cystic fibrosis patients with M. abscessus complex were identified, one with failed therapy and the other with stable pulmonary status despite persistent isolation. One primary ciliary dyskinesia patient had successful clearance of M. abscessus complex, however is now growing M. avium intracellulare. A patient with no prior medical history was successfully treated with antimycobacterial therapy. Eleven patients with neuromuscular disorders had tracheal aspirates positive for M. abscessus complex. None were treated due to stable lung status and all but two had spontaneous clearance of the mycobacteria. The two remaining persist with sporadic isolation of M. abscessus complex without clinical significance. We concluded that patients with tracheostomy associated M. abscessus complex infections do not appear to require treatment and often have spontaneous resolution. Cystic fibrosis or primary ciliary dyskinesia patients may have clinical disease warranting treatment, but current antimycobacterial therapy has not proven to be completely successful. As M. abscessus complex gains prevalence, standardized guidelines for diagnosis and therapy are needed in the pediatric population. Multicenter cohort analysis is necessary to achieve such guidelines.

Successful management of plastic bronchitis in a child post Fontan: case report and literature review.

PURPOSE: Plastic bronchitis is the occlusion of the major bronchial airways by a firm, gelatinous mucoid cast. It is a rare condition, which while classically described in asthma and sickle cell disease has greater mortality in patients with congenital heart disease. The management of this disease is obscure given the lack of clinical data regarding treatment therapies. METHODS: We describe a case of an 11-year-old female status after Fontan surgery who presented with respiratory distress secondary to atelectasis of the right lung. RESULTS: A bronchoscopy was performed demonstrating an obstructing bronchial cast with successful extraction. The plastic bronchitis continued to recur and she was placed on multiple inhaled mucolytics as well as inhaled tissue plasminogen activator with temporary resolution. Further evaluation of the etiology of her casts revealed that she had elevated pulmonary arterial pressures. Repeated bronchoscopic removal of the casts was utilized as well as continuation of the aggressive airway clearance. Ultimately fenestration of her Fontan was performed along with treatment of pulmonary vasodilators sildenafil and bosentan. Although there was improvement of the cast formation, her airway clearance could only be weaned to four times a day therapy with which she was discharged home after a 3-month hospitalization. She continues to remain on this therapy and has not required hospitalization since the initial incident over 1 year ago. CONCLUSIONS: Plastic bronchitis in a patient with Fontan physiology presents a treatment dilemma that may require comprehensive therapy in severe cases such as described.

Monitoring the widening participation initiative for access to medical school: are present measures sufficient?

CONTEXT: Widening access to higher education is a political priority. Social trends among medical school applicants are presently monitored using information on parental occupation. However, not all students now provide this information on their university application forms. OBJECTIVES: To compare the demographic characteristics of applicants who do and do not provide information about parental occupation, and to consider the utility of an alternative measure based on area of residence (Townsend score). METHODS: We surveyed the application forms of all individuals domiciled in England who made applications to English medical schools in 1996-2003. RESULTS: During 1996-2003, the proportion of applicants who did not declare parental occupation rose from 4.6% to 18.2%. Younger applicants were more likely to state that their parents were employed in professional/managerial occupations than mature applicants. White applicants were more likely to be from professional/managerial classes (72%) than were Black (60%) or Asian (60%) applicants. Although an association between socioeconomic class based on parental occupation and Townsend score was noted, this masked substantial variation between demographic groups. Applicants who did not disclose their parents' occupations were more likely to be non-White and to live in deprived areas. However, White applicants who did not state parental occupation were equally distributed by Townsend score. CONCLUSIONS: The sole use of parental occupation or area-based measures to monitor widening participation programmes requires caution given the proportion of applicants who do not provide this information and the age and ethnic group differences noted.