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Two young adult siblings were diagnosed as having a deficiency of acid beta-galactosidase activity in leukocytes and fibroblasts. The parents had enzyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidose activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with GM1 gangliosidosis, Type 1 did not show complementation of beta-galactosidase activity. However, when the cells from the patient were hybridized with cells from a patient with combined sialidase and beta-galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry-red spots, which are found in most patients with combined sialidase and beta-galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult GM1 gangliosidosis.

The Atacama B-mode Search (ABS), which began observations in February of 2012, is a crossed-Dragone telescope located at an elevation of 5190 m in the Atacama Desert in Chile. ABS is searching for the B-mode polarization spectrum of the cosmic microwave background (CMB) at large angular scales from multipole moments of ` ~ 50 ~ 500, a range that includes the primor- dial B-mode peak from inflationary gravity waves at ~ 100. The ABS focal plane consists of 240 pixels sensitive to 145 GHz, each containing two transition-edge sensor bolometers coupled to orthogonal polarizations with a planar ortho-mode transducer. An ambient-temperature con- tinuously rotating half-wave plate and 4 K optics make the ABS instrument unique. We discuss the characterization of the detector spectral responses with a Fourier transform spectrometer and demonstrate that the pointing model is adequate. We also present measurements of the beam from point sources and compare them with simulations.

Objective. This study sought to investigate the safety and efficacy of the fluoroscopic Foley catheter technique (FFCT) for removal of esophageal foreign bodies (EFBs) in children, and to identify factors associated with decreased success. Design/Setting/Patients. An 11-year retrospective review of all pediatric patients undergoing the FFCT for removal of EFBs at a tertiary-care children's hospital was performed. Results. Four-hundred and fifteen cases are reported. The median age was 29 months (range, 4 to 193); children ≤ 24 months accounted for 45% (185) of the cases. Of all episodes 86% (355) involved children without known esophageal pathology. Coins comprised 76% (316) of the EFBs. The FFCT was successful in 91% (378) of the cases. In the 60 episodes involving children with underlying esophageal pathology, the technique had an 83% success rate compared to 92% in children without known pathology (P < .05). There were 290 patients where the duration of impaction was known. The success rate was 96% if the duration was 3 days or less compared to 50% if the duration was longer (P < .0001). Though the overall success in children ≤ 24 months was less than older children (88% vs 94%, P < .05), this effect disappeared when corrected for duration of impaction. Minor complications occurred in 2% of the episodes, and major complications were noted in 1%. Conclusions. The FFCT appears to be a safe and effective method for removal of EFBs especially in children without underlying esophageal lesions and a duration of impaction ≤ 3 days. Major complications are rare.

The following is a case report of a 6-week-old premature infant in whom a ball-valve thrombus developed after prolonged central venous alimentation. Clinical presentation included facial edema, cyanotic episodes, and apnea. No murmur was present, but the diagnosis was suspected when a calcified right atrial mass became apparent on the plain chest film. The diagnosis was confirmed by echocardiography and then venous and cardiac angiography. The calcified thrombus was removed successfully from the right atrium by use of profound hypothermia with ether anesthesia and total circulatory arrest. Subsequently, the patient made an uneventful recovery and is healthy 3 years postoperatively.

We report a previously undescribed association of severe short-limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia. Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.

A method of modified coronal computed tomography (CT) was developed for examination of epiphyseal growth plate arrest and neoplasms near the growth plate. Twenty-four patients were examined with this technique (26 examinations). In all cases, the growth plate and adjacent regions were well demonstrated.