A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority of familial cases reported so far, this condition is inherited as an autosomal recessive trait. We have recently used a group of 17 GLC3 families with a minimum of two affected offspring and consanguinity in most of the parental generation and mapped the first GLC3 locus (GLC3A) to the 2p21 region. Six families did not show any linkage to the GLC3A locus and thus provided evidence for genetic heterogeneity of this disorder. A total of eight families unlinked to the 2p21 region were used to search for the chromosomal location of the second GLC3 locus. Herein, we describe mapping of a new locus (designated GLC3B) for primary congenital glaucoma to the short arm of chromosome 1 (1p36.2-36.1) that is situated centromeric to the neuroblastoma and Charcot-Marie-Tooth type 2A (CMT2A) loci. A total of 17 DNA markers were genotyped from this region of chromosome 1. Four families showed no recombination with the two markers D1S2834 and D1S402 with a maximum lod score of 4.510 and 4.157 respectively. Pairwise and multipoint linkage analysis and inspection of the haplotypes revealed that the remaining four families are not linked to this part of chromosome 1, thus providing further evidence that at least one more locus for the autosomal recessive form of GLC3 must exist in the genome. Based on the recombination events, the overall linkage map of this region is: tel-D1S1192-D1S1635-D1S1193 - (D1S1597/-D1S489/D1S228)- [GLC3B/D1S2834/D1S402] - (D1S1176/D1S507/D1S407) - D1S2728-(MFAP2/D1S170) - D1S1368 - D1S436- D1S1592-cen.      

Discriminating adaptive attributions: Agreement between self-report and objective ratings

According to the reformulated learned helplessness model of depression, causal attributions are an important mediator of the effects on mood of positive and negative experiences. Adaptive attributions for negative events are assumed to be external, unstable, and specific. In the present study, subjects exposed to one of two attribution training procedures or a control condition made attributions for hypothetical events under neutral and adaptive instructional sets. Attributions were rated by subjects and coders blind to the purpose of the study. Results indicated that subjects' views of adaptive causal attributions were congruent with predictions from the learned helplessness model. The ratings of the objective coders indicated that subjects' attributions really did change in response to the adaptive instructions in the predicted direction. Implications of these results for the reformulated learned helplessness model and depression therapies that include an attribution retraining component are discussed.The authors would like to thank Dan Russell for his very helpful comments on earlier drafts of this paper.     

Striated intramural gallbladder lucencies on US studies: predictors of acute cholecystitis

Ultrasound scans of 51 consecutive patients with gallbladder wall thickening were reviewed, and specific sonographic features were correlated with surgical and clinical follow-up. Two patterns of thickening were identified as specific indicators of the presence or absence of acute cholecystitis. "Striated" wall thickening, consisting of several alternating, irregular, discontinuous, lucent and echogenic bands, was seen in eight of 13 patients (62%) with acute cholecystitis. This pattern was not encountered in any of the patients who did not have acute cholecystitis. Conversely, "three-layer" thickening, consisting of a single circumferential lucent zone between two relatively uniform echogenic layers, was seen in only one of 13 patients (8%) with acute cholecystitis but in 11 of 38 patients (29%) with other diagnoses. Other abnormalities, including the presence of intramural echogenic foci and wall irregularities, were more frequently seen in patients with acute cholecystitis but were not as helpful. Use of these features may suggest or help exclude a diagnosis of acute cholecystitis in those patients in whom the cause of gallbladder wall thickening is otherwise not apparent.     

The failure of physician education as a cost containment strategy. Report of a prospective controlled trial at a university hospital

To test the hypothesis that physician education is an effective strategy to reduce total hospital costs, we evaluated three educational interventions at a large university hospital. This prospective controlled study spanned two academic years and involved 1,663 patients and 226 house staff. In the first year, weekly lectures on cost containment (medicine and surgery) and audit with feedback (medicine only) both failed to produce a significant change in total hospital charges. The "dose" of the intervention was increased on medicine in the second year by combining the lecture and audit strategies. Again, total charges did not change significantly. While decreased use occurred for certain selected services, the impact was not great enough to affect total hospital charges significantly. We conclude that, in the absence of other cost containing incentives, physician education alone is not an effective hospital cost containment strategy.     

Evaluating Differences in Whole Blood,Serum, and Urine Screening Tests for Zika Virus,Puerto Rico,USA, 2016

We evaluated nucleic acid amplification testing (NAAT) for Zika virus on whole-blood specimens compared with NAAT on serum and urine specimens among asymptomatic pregnant women during the 2015–2016 Puerto Rico Zika outbreak. Using NAAT, more infections were detected in serum and urine than in whole blood specimens.     

Metastatic embryonal rhabdomyosarcoma of the breast: A case report and literature review

Rhabdomyosarcoma (RMS) is a common malignancy in children, but embryonal rhabdomyosarcoma (ERMS) deposits rarely occur in the breast in adults. Therefore, little is known about magnetic resonance imaging (MRI) features of breast metastases from RMS, especially the embryonal type. We reported a case of a 22-year-old woman who was diagnosed with ERMS at left foot 2 years ago and accepted operation and chemotherapy. She was confirmed to have breast metastases from the left foot. Successive imaging examinations were performed 3 months apart. Breast ultrasound indicated a benign lesion, and further examination did not reveal any bone metastases. However, predominant restricted diffusion and rim contrast enhancement on MRI combined with the patient's medical history suggested a malignancy of BI-RADS 5. After 3 months, breast ultrasound revealed masses detected last time became larger and lobulated. In addition, internal heterogeneous intensity and rim contrast enhancement with restricted diffusion were revealed on MRI. We speculated that typical MRI findings of breast metastases from RMS may include iso- to hypointensity on T1WI, heterogeneous hyperintensity on T2WI, and circular enhancement with restricted diffusion. Moreover, mild peritumoral edema, rapid expansion of necrosis, and ascending time-intensity curve detected on MRI may be features of the ERMS type.     

Muscle belting An alternative operative procedure for posterior fixation suture

In posterior rectus belting, a modification of Cüppers' Fadenoperation (posterior fixation suture), a piece of silicone rubber is placed across the medial recti muscles and fixed to the sclera 12 mm behind the insertion. Performed as the only procedure, posterior belting was shown to be effective in 43 patients with excess esotropia at near fixation when bifocals were insufficient. Subsequent reoperations (should they become necessary) are both easier and quicker to perform than when following the standard posterior fixation suture. Secondary recess or resect surgery can be done while leaving the belts in place. B-mode ultrasonographic examination was used to demonstrate differences in anatomical outcome between the two techniques.     

Pneumococcal vaccine. Efficacy and associated cost savings

We evaluated the efficacy and cost savings of the pneumococcal pneumonia vaccine in a retrospective cohort study of 762 vaccinated and 1161 randomly selected unvaccinated age-sex matched persons in Blue Cross/Blue Shield of Minnesota using medical and pharmaceutical claims. The pneumonia incidence and the ratio of incidence in the postvaccination to prevaccination periods (rate ratio) were examined in the vaccine group by sex and risk factors. Vaccination significantly reduced pneumonia incidence, with overall efficacy of 69% and higher efficacy in women (86%) than in men (33%). We assigned persons to risk categories based on disease conditions as recorded in the claims by the ICD-9-CM (International Classification of Diseases, Ninth Revision, Clinical Modification) diagnostic codes. In the risk categories, efficacy varied from 50% to 75% and was confounded by sex. Immunocompromised and immunocompetent women had high efficacy (83% to 88%), while immunocompetent and immunocompromised men had lower efficacy (33%). Persons with a precondition of pneumonia exhibited similar vaccine efficacy to the overall cohort relative to the comparison group. Projected costs of pneumonia cases are 3.6 times the observed costs of vaccination and postvaccination pneumonia costs. We conclude that the pneumococcal pneumonia vaccine is efficacious in persons having had pneumonia, persons "at risk" of developing pneumonia, or persons over 50 years of age, and it corresponds to overall savings of $141 per person.     

Number and size spectra of non-myelinated axons of human premolars

The aim of this study was to determine the number and size of apical non-myelinated (C) axons of healthy human premolars. The material was derived from a large collection of specimens prepared for a previous quantitative investigation on the myelinated (A) axons of human premolars. A total of 16 teeth (six maxillary first and five each of mandibular first and second premolars), removed from adolescents for orthodontic reasons, were used. Root discs of about 0.6 mm thickness were prepared at about 2 mm cervical to the root apex and processed for light and electron microscopy. The number of non-myelinated axons was determined by taking a total census of such fibres that could be identified and reconstructed by standardized composite electron micrographs from each root disc. The measurement of axons was done on a statistically representative sample of axons (n=1810) using an electronic image processing unit. The 16 teeth had an average of 2000 ± 1023 non-myelinated axons at the juxta-apical level (range 534–3912). The average diameter of the non-myelinated axons was found to be 0.5 ± 0.4 m (range 0.05–2.4 m).