Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

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HEAD CIRCUMFERENCE AND INTELLECTUAL PERFORMANCE OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY

The head circumferences of 64 patients with Duchenne muscular dystrophy were measured and found to be greater than those of a normal population. The patients had relative, and in 12 cases, absolute macrocephaly. 47 of the 64 patients underwent intelligence testing and were found to be significantly intellectually impaired, particularly in verbal and language skills. There was no correlation between head circumference or absolute macrocephaly and intellectual performance. The cause of macrocephaly in these patients is unknown and its relevance to the aetiology of intellectual impairment in Duchenne muscular dystrophy is not yet clear.     

Cesarean delivery during second-stage labor: characteristics and diagnostic accuracy.

OBJECTIVE: To characterize dysfunctional labors that lead to cesarean delivery in the second stage and to assess the accuracy of diagnoses of abnormal fetal descent. METHODS: Thirty-one patients delivered by cesarean during the second stage because of abnormal labor or presumed cephalopelvic disproportion were studied and compared to 62 control cesarean cases delivered for the same indications in the first stage. The clinical diagnosis of dysfunctional labor that led to the cesarean was compared to the diagnosis made by retrospective analysis of the labor curves. RESULTS: Cases did not differ from controls delivered in the first stage in maternal age, race, parity, gestational age, weight gain, or the frequency of associated medical complications. The newborns were not significantly different in birth weight,ponderal index, sex, or the incidence of low Apgar scores. Among study patients, 94% had a second stage labor dysfunction determined by graphic labor analysis, predominantly arrest of descent (69%) and failure of descent (28%). In 79% of cases a dysfunctional first stage preceded the abnormal second stage. Among these first stage labor abnormalities, 68% were not recognized during the labor. CONCLUSION: Characteristics of patients delivered by cesarean during the second stage were similar to those delivered before full cervical dilatation. Second stage labor abnormalities were usually preceded by an abnormal first stage. There was considerable inaccuracy in the diagnosis of second stage labor dysfunction.     

Calcaneal fractures

Fractures of the calcaneus generally occur in the event of high-energy trauma, resulting in complex, three-dimensionally oriented fracture patterns. Surgical management is generally indicated for displaced intra-articular fractures, which allows restoration of calcaneal height, width and overall morphology, in addition to the posterior facet articular surface where possible, and allows for a late in situ arthrodesis as a means of salvage in the event of posttraumatic arthritis. What follows is a brief discussion of our preferred methods in the diagnosis and management of calcaneal fractures.     

Doctors as managers: investors and reluctants in a dual role.

Government reform of the NHS in the UK has sought to increase the involvement of doctors (clinicians) in hospital management. Using frameworks from the psychological contract and organisational misbehaviour literatures, this paper examines the processes involved when clinicians assume management roles. This literature seeks to explain breaches to expectations regarding prior agreements with management and subsequent actions of 'getting even' as a result of breaches to the employment relationship. A qualitative methodology using interviews was undertaken, which identified two distinct groups of clinician-manager. Investors actively pursued a management opportunity as an alternative to clinical medicine, whilst reluctants tended to assume a management role to protect particular specialities from outside influence or from those they thought would be inappropriate clinician-managers. Investors and reluctants often had very little prior experience of management and managers and had problems reconciling their dual clinician-management role. Poor relationships with hospital managers who often had no understanding of their dual responsibilities led to tensions and conflict, which questions continued developments in this important area of UK health policy. Suggestions for improving this process are outlined.     

Camp Okizu: Preliminary Investigation of a Psychological Intervention for Siblings of Pediatric Cancer Patients

This research was conducted at a summer camp for siblings of children with cancer. The camp is designed to address emotional problems, provide peer interaction and validation, and bolster siblings' self-esteem. Standardized measures assessing posttraumatic stress, anxiety, quality of life, and self-esteem were administered to 77 siblings (ages 6-17) prior to attending camp and again 3 months after camp. From pre- to post-camp, the siblings reported statistically significant decreases in symptoms of posttraumatic stress and anxiety, and statistically significant improvements in quality of life and self-esteem. These preliminary findings are encouraging and suggest the value of camp as a psychological intervention and provide a model for other pediatric cancer facilities designing intervention programs for siblings.