The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Background

Mutations in the PTEN gene cause two disorders that predispose to cancer, Bannayan–Riley–Ruvalcaba and Cowden syndromes. Some patients with a PTEN mutation have only macrocephaly and autism, but they may still be at risk for neoplasms. Vascular anomalies occur in patients with a PTEN mutation, but they have not been systematically studied or precisely defined.

Method

We analysed the clinical and radiological features of the vascular anomalies in 26 patients with PTEN mutations who were either seen or had their medical records reviewed at Children''s Hospital Boston.

Results

All 23 patients who had their head circumference measured were macrocephalic, and all 13 male patients who were fully examined had penile freckling. Vascular anomalies were found in 14/26 (54%) of patients: 8/14 (57%) had multiple lesions and 11/13 (85%) who had cross‐sectional imaging had intramuscular vascular lesions. Radiographic studies showed that 12/14 (86%) were fast‐flow vascular anomalies, and angiography typically showed focal segmental dilatation of draining veins. Excessive ectopic fat in the vascular anomalies was present in 11/12 (92%) of patients on CT or MRI. Intracranial developmental venous anomalies (DVAs) were found in 8/9 (89%) of patients who had brain MRI with contrast.

Conclusions

Vascular anomalies in patients with a PTEN mutation are typically multifocal intramuscular combinations of fast‐flow channels and ectopic fat. Cerebral DVAs are very common. PTEN mutational analysis should be considered for all macrocephalic patients with fast‐flow vascular anomalies or multiple intracranial DVAs.     

The subclavian artery as the first branch of the aortic arch

Summary Four patients in whom the subclavian artery arose as the first branch of the ascending aortic arch are presented: two with four separate brachiocephalic arteries and two with a common trunk supporting both carotid arteries.     

Progesterone profiles in luteal phase defect cycles and outcome of progesterone treatment in patients with recurrent spontaneous abortion

The existence of luteal phase defect has been the focus of much debate, mainly because of inconsistencies in its diagnosis and management. This study was performed to compare progesterone profiles in women with luteal phase defect with those of women with normal cycles and to establish a discriminatory level of serum progesterone that may aid in the diagnosis of this condition. Compared with patients with luteal phase defect cycles, women with normal cycles produced significantly more progesterone in the luteal phase. The serum progesterone level (less than or equal to 21 nmol/L) was the optimal discriminatory level between luteal phase defect and normal cycles and provided a diagnostic test with 70% sensitivity and 71% specificity. In women with recurrent abortion, the incidence of luteal phase defect was 40%, but with treatment 81% of pregnancies were successful. The findings in this study support the existence of luteal phase defect as a clinically significant entity in recurrent first-trimester spontaneous abortion and one that can be treated successfully with the administration of progesterone. The histologic diagnosis of luteal phase defect may also be confirmed with serum progesterone.     

Peptic Ulcer/Stricture After Gastric Bypass: A Comparison of Technique and Acid Suppression Variables

Background: Mason's original animal experiments on the gastric bypass (GBP) showed little acid production in the gastric pouch, a finding confirmed in humans. Despite this, GBP in humans is associated with an incidence of ulcer/stricture (U/S) at the gastrojejunostomy of 3 to 20%, with both acid secretion and staple-line dehiscence considered important risk factors or etiologies. Our series of GBP patients was reviewed to determine what technical or management factors, if any, were associated with U/S. Methods: All patients undergoing first time GBP at Dartmouth-Hitchcock Medical Center by one surgeon from June 1991 until June 2000 were reviewed. The incidence of U/S as confirmed on upper endoscopy was determined by retrospective chart review. The technique of surgery, frequency of acid suppressive therapy at discharge, postoperative day of U/S diagnosis by endoscopy, length of follow-up with a member of the multidisciplinary bariatric team, and incidence of staple-line dehiscence were tabulated. Results: 158 patients (72% female, mean BMI 53, mean age 42) underwent GBP.Two gastric stapling methods were used to create the gastric pouch: 4-rows (136 patients) and 8-rows (22 patients). No other technical feature was adjusted in the series. The two patient groups were similar in gender, age, and BMI. Acid suppressive therapy at the time of discharge was similar in each group with U/S (4-rows 64% and 8-rows 50%, p=0.5). U/S developed in 12 (55%) of the 8-row group and in 14 (10%) of the 4-row group (p < 0.001). U/S typically occurred within the first 2 months postoperatively (mean 48 days, SD 40). No patients in our series developed a staple-line dehiscence. Conclusion: U/S occur in the first few months following GBP.Twice the number of gastric staple-lines is associated with over five times the incidence of U/S, whereas post-discharge acid suppressive therapy is not predictive of U/S. Thus, a technique performed to decrease the risk of staple-line breakdown was associated with a much higher incidence of U/S. Staple-line dehiscence is not the etiology of this condition.Therefore, U/S after GBP does not appear to be explained by acid injury. We speculate that local, tissue injury related factors may be more responsible, a speculation that invokes a novel pathophysiologic mechanism for U/S formation following gastrojejunostomy.     

Education in stroke: strategies to improve stroke patient care

'Stroke units save lives', but organized care requires expert staff and regular training to be effective. However, the quality of inpatient care for stroke remains poor, and stroke education is often fragmented between the health-care professions. This review describes some national and local strategies aimed at ensuring that all patients are cared for by expert staff.     

Dual action antidepressants and some important considerations

OBJECTIVE: To review controlled studies of long-term treatment and their side-effects with newer dual action antidepressants following an acute episode of major depression. METHOD: A literature review (MedLine) was undertaken and references were selected for their relevance and methodology in describing their contribution to the examination of our objective. RESULT AND CONCLUSION: Three dual action antidepressants are identified: venlafaxine, mirtazapine and milnacipran. These are more effective and better tolerated than the older tricyclic antidepressants in the treatment of an acute episode of depression and in the prevention of relapse. They also offer advantages in that they lack autonomic side-effects of the tricyclics. However, sedation, nausea and sexual side-effects may occur with venlafaxine, and weight gain with mirtazapine.