Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR. Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder. Although most CCHS associated PHOX2B mutations occur de novo, about 10% of the cases are inherited from apparently asymptomatic parents, thus confirming variable expressivity and incomplete penetrance of PHOX2B mutations. Three asymptomatic parents of children affected with CCHS, and found to carry the same PHOX2B expansion mutations as their siblings, were studied by overnight polysomnography and somatic mosaicism analysis. In one case, significant sleep breathing control anomalies were detected, while the other two resulted in normal. In tissue‐specific allele studies, mosaicism with a comparatively low mutant allele proportion was showed in the two unaffected adult carriers. Accurate polysomnography and assessment of the degree of somatic mosaicism should be conducted in asymptomatic carriers of PHOX2B mutations, as they may unmask subclinical but significant anomalies     

Thirty days complication rate following surgery performed for deep-brain-stimulation.

Serious adverse events (SAEs) during the first 30 postoperative days after stereotactic surgery for Deep-Brain-Stimulation performed in 1,183 patients were retrospectively collected from five German stereotactic centers. The mortality rate was 0.4% and causes for death were pneumonia, pulmonary embolism, hepatopathy, and a case of complicated multiple sclerosis. The permanent surgical morbidity rate was 1%. The most frequently observed SAEs were intracranial hemorrhage (2.2%) and pneumonia (0.6%). Skin infection occurred in 5 of 1,183 patients (0.4%). Surgical complications caused secondary AEs (e.g. pneumonia) preferentially in older patients and in patients treated for Parkinson's disease (PD). Complication rates did not differ among the five centers.     

Impact of 18F-fluorodeoxyglucose positron emission tomography in the staging and treatment response assessment of extra-pulmonary small-cell cancer

The aim of this study was to retrospectively evaluate the value of ¹⁸F-fluorodeoxyglucose (FDG) positron emission tomography (PET) in extrapulmonary small-cell cancer (EPSCC). Patients with EPSCC who underwent PET for staging or response assessment between 1996 and 2007 were identified from a database. Patient records were reviewed. PET-based, and conventional staging and restaging results were compared. The binary staging classification of limited disease (LD) versus extensive disease (ED) was used. Patients with LD had tumours that could be encompassed within a tolerable radiation therapy (RT) volume. Of 33 eligible patients, 12 had staging PET scans, 11 had restaging scans and 10 had both. All known gross disease sites were FDG-avid. PET and conventional stage groupings were concordant in 21 of 22 cases. One patient was appropriately upstaged from LD to ED by PET. PET detected additional disease sites, without causing upstaging in three further patients. Restaging PET scans identified previously unrecognised persistent or progressive disease in 4 of 21 cases. In four further cases, persistent FDG uptake after treatment was either false positive (n = 2) or of uncertain (n = 2) aetiology. PPV was 100% for staging and 82% for restaging. In 8 of 43 imaging episodes (19%), PET appropriately influenced management in five cases by changing treatment intent from radical to palliative, and in three cases by altering the RT volume. PET has incremental value compared to conventional imaging for staging EPSCC, and may also be useful for restaging after therapy. PET influenced patient management in 19% of 43 imaging episodes.     

A contrast technique to improve sampling in cavitating lung lesions

Twelve patients with cavitating lung lesions of uncertain aetiology, who had percutaneous aspiration combined with the instillation of radiographic contrast media, are presented. A diagnosis was made in 11 of the 12 patients (92%). A positive culture was obtained in all patients already receiving treatment for lung abscesses. Cultures of lavage fluid were positive in 89% of infected cavities. The instillation of radiographic contrast media into the lung cavity assists biopsy of the cavity wall, can be used to lavage the cavity, and may facilitate expectoration of sputum.     

How does home management of asthma exacerbations by parents of inner-city children differ from NHLBI guideline recommendations? National Heart, Lung, and Blood Institute

OBJECTIVES: 1) To describe the asthma morbidity, primary care practices, and asthma home management of inner-city children with asthma; 2) to determine the responses of parental caretakers to asthma exacerbations in their child; and 3) to compare these responses to the recommendations of the National Heart, Lung, and Blood Institute (NHLBI) asthma guidelines for home management of acute exacerbations of asthma. DESIGN AND METHODS: A 64-item telephone survey was administered between July 1996 and June 1997 to 220 parental caretakers of 2- to 12-year-old children who had been hospitalized with asthma at an inner-city medical center from January, 1995 to February, 1996. Sociodemographics, primary care practices, asthma morbidity, and asthma home management were assessed. Parents were asked what they would do if their child "began wheezing and breathing faster than usual." RESULTS: Morbidity measures indicated that there were an average of 2.5 +/- 4.5 emergency department visits for asthma in the last 6 months, 1.6 +/- 2.2 hospitalizations for asthma in the last 12 months, and 18.1 +/- 17.9 asthma-related school absences in the previous school year. Most, but not all, of the families had primary care providers and most had phone access to them. Half of the families (51%) reported having been given a written asthma action plan. Only 30% of families with children age 5 years and older had peak flow meters. In contrast, almost all families (97%) had equipment for inhalation of beta-agonists. Only 39% of the 181 children with persistent symptoms were receiving daily antiinflammatory agents as recommended in the guidelines of the NHLBI. In response to the scenario of an acute exacerbation of asthma, no one mentioned that they would refer to a written plan, only 1 caretaker would measure peak flow and 36% would give beta-agonists. Two percent would give oral steroids initially, and 1 additional person would do so if wheezing continued 40 minutes later. Only 4% responded that they would contact their clinician. Reports of actual practice differed from the scenario responses in that more people began beta-agonists and oral steroids in response to an exacerbation in the past 6 months than said they would in response to the scenario. CONCLUSION: In this population of previously hospitalized inner-city children with asthma, the NHLBI guidelines for the home management of asthma exacerbations are not being followed. Interventions are needed to affect both clinician and caretaker practices.