Acute Leukemia in an Infant with Marfan's Syndrome: A Case Report

We describe a familial case of Marfan's syndrome with associated intrathoracic stomach detected during the neonatal period. The patient developed a primitive leukemia at 3 months of age. Acute leukemia in a patient with Marfan's syndrome has not previously been reported.     

Magnetic resonance imaging of foot and ankle trauma

MRI is a useful diagnostic tool in the assessment of traumatic lesions of the foot and ankle. It is especially useful in demonstrating acute and chronic tendon and ligament injuries. Subtle fractures, including osteochondral, nondisplaced, and stress fractures, are well shown with MRI but may be difficult to detect on radiographs. A bone scan may also be used to detect these fractures; however, with MRI the fracture extent may be determined. MRI is also useful in diagnosing complication of trauma, such as ischemic necrosis and bone and soft-tissue infections.     

Protein components specifically associated with prespliceosome and spliceosome complexes.

We have carried out a systematic analysis of the protein composition of highly purified mammalian spliceosomes. We show that > 30 distinct proteins, including 20 previously unidentified components [designated spliceosome-associated proteins (SAPs)], are specifically associated with the spliceosome in a salt-resistant complex. In contrast to these spliceosome-specific proteins, we show that hnRNP proteins are not tightly associated with purified prespliceosome and spliceosome complexes. The splicing factor U2AF65, U1 snRNP-specific proteins, and several SAPs are present in the earliest prespliceosome complex (E). A set of 10 proteins is then added to the first ATP-dependent prespliceosome complex (A), and concomitantly, a significant decrease in the level of U2AF65 is observed. The fully assembled spliceosome is formed by the addition of 12 proteins in a reaction that requires ATP and both the 5' and 3' splice sites.     

PRIMARY CARE FOR WOMEN: Comprehensive Assessment of the Head and Neck

This article reviews the pertinent anatomy of each body system involved in the assessment of the head and neck (including the eyes, ears, nose, and throat) and describes the basic elements of the comprehensive health assessment. Frequently encountered chief complaints are discussed. Aspects of the health assessment that will assist the primary care provider in making a differential diagnosis and determining the need for referral are presented. This article is the first of two articles on this topic; the subsequent article will address primary care management of common conditions of the head and neck.     

Retinoblastoma in Great Britain 1969-80: incidence, treatment, and survival.

Patients with retinoblastoma diagnosed from 1969 to 1980 have been followed up for periods of up to 17 years. Data from a previous study of patients diagnosed from 1962 to 1968 have been included for analysis of incidence and second primary tumours, and for study of trends in treatment. The registration rate in Britain (which may be about 10% less than the true incidence) is about one in 23,000 live births, approximately 40% of cases being known to be genetic. There is no apparent trend in incidence during the period covered by these two studies. The three-year survival rate in 88%. Patients with bilateral tumours have a better survival rate than those with unilateral tumours for the first few years, but their long-term survival rate is worse because of later deaths from ectopic intracranial retinoblastoma or second primary neoplasms. Older children tend to have a worse prognosis, which is related to the fact that their tumours are diagnosed at a more advanced stage. There is a significantly higher survival rate for boys than for girls; this is partly accounted for by difference in age and stage at diagnosis between the sexes. Children referred to units specialising in the treatment of retinoblastoma have a higher three-year survival rate than those treated at other hospitals. Comparing methods of treatment between the periods 1962-8 and 1969-80, we find there has been a trend towards more conservative treatment. The use of chemotherapy is now usually reserved for recurrences and metastases and for palliative treatment in terminal retinoblastoma.     

External beam radiotherapy for retinoblastoma: I. Whole eye technique.

A retrospective analysis has been performed of the results of external beam radiotherapy for retinoblastoma using a whole eye technique. Local tumour control has been assessed in a consecutive series of 175 eyes in 142 children all of whom received external beam radiotherapy as the primary treatment for retinoblastoma. Follow up ranged from 2 to 17 years (median 9 years). Tumour control rates have been analysed with respect to the Reese Ellsworth classification and the series includes eyes in groups I to V. Focal salvage therapy was given for persistent, recurrent, or new tumours after radiotherapy. Following whole eye radiotherapy alone, the overall ocular cure rate was 57%, though with salvage therapy 80% of eyes could be preserved.     

Role of frozen section and clinical parameters in distinguishing benign from malignant follicular neoplasms of the thyroid.

The determination of malignancy preoperatively or intraoperatively is difficult in patients with follicular neoplasms of the thyroid. This study reviews a series of 395 patients treated for follicular neoplasms at the Vancouver General Hospital and the British Columbia Cancer Agency between the years of 1955 and 1988, 198 of whom had frozen section at the time of surgery. Frozen section was 79% accurate in differentiating follicular adenomas from carcinomas, with a sensitivity of 52% and a specificity of 100%. The positive predictive value of a frozen section showing carcinoma was 100%, and the negative predictive value was 73%. An incorrect diagnosis of a benign lesion was made in 21% of patients in whom the final diagnosis by fixed section was carcinoma. These same statistics were calculated for patients aged greater than 50 years, tumor size greater than 3 cm, and patients with a history of previous neck irradiation, three clinical factors shown in a previous study to be strong prognostic indicators of malignancy. The results were compared with those found by frozen section. The implications of these results in terms of patient management are discussed.     

Renal size and function after cure of Wilms' tumour.

Now that most patients with Wilms' tumour are cured, it is practicable to study the long-term morbidity of their treatment and use this information to reduce treatment sequelae in the future. In this study we evaluate the size and function of the remaining kidney in 53 survivors of Wilms' tumour with a mean off treatment follow-up of 13 years. There was evidence of renal dysfunction in 17 (32%), including ten (19%) with a low GFR (< 80 ml/min/1.73 m2SA), six (11%) with hypertension and five (9%) with increased urinary albumin excretion. Measurements of renal size showed 'good' renal compensatory hypertrophy in only 55% of patients. 'Good' refers to renal size of more than 2 s.d. above the mean renal length for children with two kidneys. There were no correlations between GFR, renal size, blood pressure, microalbuminuria or type of treatment. However, children less than 24 months at diagnosis and children receiving chemotherapy with radiation doses to remaining kidney of more than 1200 cGy had a worse renal prognosis. Patients whose Wilms' tumour is diagnosed in infancy should have careful long-term follow-up of renal function and size. Older patients may safely be followed up less often, unless their remaining kidney was received > 1200 cGy.     

A 4-year controlled clinical study into the use of a ceramic hydroxylapatite implant material for the treatment of periodontal bone defects

10 patients with chronic adult periodontitis who had greater than 1 tooth with infra-bony pockets were treated at the test defects by periodontal flap procedures with implantation of hydroxylapatite particles; the control defects were treated by the same surgical procedures but without the implant. A total of 58 test defects and 59 control defects were treated. Each defect had measurements carried out at given sites on the involved tooth surfaces, the sites being considered for subsequent tabulation purposes under the category of shallow (less than 3 mm) moderate (3-6 mm) and deep (greater than 6 mm) initial pocket depths. There were 146 and 152 shallow sites, 216 and 241 moderate sites and 140 and 133 deep sites, at test and control sites, respectively. Measurements of recession, probing pocket depths and probing attachment levels were made at 6 months and 1, 2, 3 and 4 years. At all sites over the period of the study, for the moderate and deep initial pockets there was a significant reduction in probing depths and an increase in the probing attachment levels. At the 4th year of assessment for the initially deep pockets, the reduction in probing depths was significantly greater for the sites treated with the implant material. In view of the difficult clinical problem posed by the treatment of teeth with deeper periodontal bone defects, further research using either this type of implant material or similar material should be considered.