Clinical and molecular findings in IPEX syndrome.

IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported.     

An alternative to aorto-uni-iliac EVAR and femoro-femoral crossover in a patient having an aorto-iliac aneurysm with an occluded external iliac artery.

INTRODUCTION: An endovascular procedure for excluding an aorto-iliac aneurysm whilst simultaneously preserving one internal iliac artery is described in a patient with complex iliac pathology. REPORT: The procedure involved the use of Advanta V12 covered stents to bridge the gap between the contralateral limb of the main body of a custom-made Zenith stent graft and the internal iliac artery on the side of an external iliac artery occlusion. DISCUSSION: Minimal modifications to the standard design of modular stent grafts make it possible to treat high risk patient with complex pathology with minimal morbidity.     

Outcome of ultrasound-guided sclerotherapy for varicose veins: medium-term results assessed by ultrasound surveillance.

OBJECTIVE: To estimate medium-term success after a technique for ultrasound-guided sclerotherapy for superficial chronic venous disease. DESIGN: A prospective study in a single unit with ultrasound surveillance after treatment. MATERIALS: Results after 1189 treatment sessions for 807 venous saphenous veins and related tributaries or non-saphenous tributaries in 489 patients. METHODS: Univariate life table analysis determined primary and secondary success rates. Multivariate Cox regression analysis detected covariates that affected outcome. RESULTS: Primary and secondary success rates at 36 months for all veins were 52.4% (95%CI 46-58%) and 76.8% (95%CI 71-82%). Cox regression analysis for primary success for all veins showed significantly worse results for saphenous veins compared to tributaries (HR 3.72 - 95%CI 1.9 to 7.3). Cox regression for all saphenous veins showed independently worse results for patients less than 40 years age (HR 2.16 - 95%CI 1.27-3.66), small compared to great saphenous veins (HR 1.58 - 95%CI 1.11-2.24), veins greater than 6mm diameter compared to smaller veins (HR 2.22 - 95%CI 1.40-3.50), liquid compared to foam sclerotherapy (HR 2.20 - 95%CI 1.28-3.78), lower volumes of sclerosant compared to volumes greater than 12 ml (HR 0.51 - 95%CI 0.33-0.81) and highly diluted compared to concentrated sclerosant (HR 2.05 - 95%CI 1.21-3.46) with worse results using highly diluted or undiluted 3% sclerosant compared to a 1.5% concentration. There were no significant differences for primary success for saphenous veins for date of procedure, sex, side, primary or recurrent varicose veins, or commercial type of sclerosant. CONCLUSIONS: Ultrasound-guided sclerotherapy gives satisfactory results if it is accepted that treatment may need to be repeated to achieve secondary success. Results provide a basis for further research to explore factors that might affect outcome. Younger patients with larger diameter saphenous veins may warrant alternative forms of treatment, particularly for small saphenous reflux.     

Small Bowel Obstruction Secondary to Intragastric Erosion and Migration of A Gastric Band

We describe what we believe to be the first reported case of intragastric erosion and migration to the jejenum of a laparoscopically inserted gastric band, 3 months after the original bariatric surgery was performed. This had caused ulceration and necrosis of the small bowel as the tension in the port tubing had caused the bowel to become concertinaed over it and resulted in a cheese-wire effect through the jejunal convolutions. As bariatric surgery becomes more common, patients with complications of their procedure may present to the general surgeon as an emergency. We recommend early intervention in patients with gastric erosion.     

Four-Year Follow-up on Endovascular Radiofrequency Obliteration of Great Saphenous Reflux

BACKGROUND: Endovascular radiofrequency obliteration has been used since 1998 as an alternative to conventional vein stripping surgery for elimination of saphenous vein insufficiency. OBJECTIVE: To demonstrate the long-term efficacy of this treatment modality. METHODS: Data were prospectively collected in a multicenter ongoing registry. Only great saphenous vein above-knee treatments were included in this study. Eight hundred ninety patients (1,078 limbs) were treated prior to November 2003 at 32 centers. Clinical and duplex ultrasound follow-up was performed at 1 week, 6 months, and 1, 2, 3, and 4 years. RESULTS: Among 1,078 limbs treated, 858 were available for follow-up within 1 week, 446 at 6 months, 384 at 1 year, 210 at 2 years, 114 at 3 years, and 98 at 4 years. The vein occlusion rates were 91.0%, 88.8%, 86.2%, 84.2%, and 88.8%, respectively; the reflux-free rates were 91.0%, 89.3%, 86.2%, 86.0%, and 85.7%, respectively; and the varicose vein recurrence rates were 7.2%, 13.5%, 17.1%, 14.0%, and 21.4%, respectively, at each follow-up time point at 6 months, and 1, 2, 3, and 4 years. Patient symptom improvement persisted over 4 years. CONCLUSIONS: Endovascular temperature-controlled radiofrequency obliteration of saphenous vein reflux exhibits an enduring treatment efficacy clinically, anatomically, and hemodynamically up to 4 years following treatment.     

Cisplatin-5-fluorouracil chemotherapy for advanced inoperable squamous carcinoma of the head and neck

Patients with locally advanced, inoperable squamous cell carcinoma of the head and neck were offered three courses of cisplatin and 96-h 5-fluorouracil (5-FU) infusion. Subsequent therapy included surgery when feasible, irradiation therapy, and a maintenance program of methotrexate (MTX)-5-FU. Thirty-three patients were evaluated prospectively. Seven patients underwent a single course of chemotherapy. Five patients underwent two courses of chemotherapy. Twenty-one patients underwent three courses of adjuvant chemotherapy. The overall response rate was 48% (16 of 33). Fifteen of 21 patients (76%) receiving three courses of chemotherapy evidenced a response; this included three complete responses (CRs) (9%). No responses were seen in patients receiving only one or two courses of chemotherapy. Among responding patients, the initial favorable response to chemotherapy was apparent after the first course of chemotherapy. Patients who failed to demonstrate any response after two courses of chemotherapy did not respond after a third course. A significant group of patients fail to respond and should be offered participation in other investigational protocols as they become available.     

The computer as a diagnostic consultant, with emphasis on use of laboratory data

In this preliminary study concerning the applicability of expert computer systems, such as INTERNIST-I, to providing advice to clinical pathologists regarding patients' diagnoses and the pertinence of performing further laboratory tests, 32 complex cases, drawn from Case Records of the Massachusetts General Hospital, were analyzed diagnostically by computer, on the basis of clinical laboratory data only. Half (16 cases) were diagnosed correctly, but in 15 of the rest no diagnostic conclusion could be reached. However, no diagnostic errors were made. The study provides preliminary evidence that expert computer systems can be useful to clinical pathologists and clinical internists in guiding the laboratory workup of patients toward correct diagnosis.     

The Future Detection and Prevention of Institutional Abuse: Giving Children a Chance to Participate in Research

The involvement of children in research studies is historically fraught with difficulties. Experiments on children without their consent or knowledge have been carried out in the past and thus the need for stringent ethical control is undoubtedly necessary. However this paper argues that the need to protect children from unethical research has somehow become entwined in the web of secrecy that surrounds the very nature of child abuse. In the name of 'protection' are children in danger of not having their voice heard?

In the foreword to 'Listening to Children' (Alderson, 1995) Roger Singleton writes, 'much research is carried out on and about children, but seldom with children. Children themselves are often strangely silent'. This paper draws on recent literature on the institutional abuse of young people in residential care and the lack of voice that those abused in residential care have traditionally had, suggesting that their silence is not 'strange' but perhaps contrived.

This paper does not repeat the work of Alderson (1995) and make suggestions as to how research with children may best be carried out, but seeks to address the issues in relation to research with children who are in institutions.