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Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects.

Summary Background Major amputation is a dreaded event with high mortality and morbidity. However, few studies have investigated the epidemiology of amputation in the elderly over time, in the face of evolving management and prevention efforts. Methods We undertook a retrospective study to determine the incidence rate, etiology and prognosis of major lower limb amputations (transtibial or higher) in elderly patients (> 65 years). Cases were identified over a 10-year period in the Geneva (Switzerland) area, where all amputations are performed in a single center and reliable demographic data are available. Results The rate of amputation varied from 1.8 to 11.4/10000 patients/year, increasing with age and male gender. Diabetes was present in 48% patients, and conferred a 10 times higher risk of amputation. Severe peripheral arterial disease (PAD) was present in > 94% patients. The prognosis remains poor, 47% patients had died after two years and only 53% patients could be equipped with a prosthetic limb. Over 10 years we found a progressive increase in age at amputation; this encouraging increase was mostly accounted for by diabetic patients (> 6 months per year). Conclusions The rate of amputation observed among elderly patients was low. Neither the rate nor the prognosis improved over the decade studied. However, the age at amputation increased by > 6 months/year, particularly in diabetic amputees, suggesting that current management successfully delays amputation. Amputations were almost exclusively performed for severe PAD. Further reduction in the rate of amputation will require progress in the prevention and management of PAD.

BACKGROUND: Diabetic foot lesion is associated with increased morbidity and high resource use. Although early amputation has been advocated in case of osteomyelitis, conservative treatment is a more attractive alternative. OBJECTIVE: To identify criteria predictive of failure of conservative treatment of diabetic foot ulcer at time of admission to the hospital. METHODS: We conducted a 5-year retrospective cohort study with prospective long-term follow-up of all diabetic patients admitted for a foot lesion at a large (1600-bed) teaching institution. Predetermined criteria were used for the diagnosis and classification of diabetic foot lesions (Wagner classification). Study variables included patient demographics and clinical parameters related to infection and diabetes. The average follow-up after hospital discharge was 2 years. Failure of conservative treatment was the main outcome measure. Independent predictor variables were selected by logistic regression analysis. RESULTS: A total of 120 diabetic patients were admitted for foot lesions; complications of contiguous osteomyelitis, deep tissue involvement, and/or gangrenous lesions occurred in 78 (74%) of the 105 patients for whom charts were available. Fourteen patients (13%) underwent immediate amputation. Conservative treatment was successful for 57 (63%) of the 91 remaining patients. Success was achieved in 21 (81%) of 26 patients presenting with skin ulcer, 35 (70%) of 50 patients with deep tissue infection or suspected osteomyelitis, and 1 (7%) of 15 patients with gangrene (P

Cost of disease is a complex notion: financial cost, psychological cost for those who have cope with a chronic disease. But there is also another cost which has not yet sufficiently been taken into account: the cost of resistance to change. It has largely been shown that patient education could result in major cost-saving as well as improvement of quality of life. Why is there such a resistance from health care providers, health policy planners for implementation of patients education programs? These resistances may well be part of the real cost of efficient control of a disease and like in the case of diabetes, prevention of acute and chronic complications. Education and training of patients has enabled us to decrease markedly lower extremities amputations: 12 times less above knee amputations, reduction by half of below knee amputations and a four fold decrease of toe amputations at the University Hospital of Geneva, Switzerland.

Transcutaneous oxygen partial pressure measurement (TcPO2) using a polarographic probe heating the skin at 44 degrees C provides informations about the capacity of blood to supply skin with oxygen. As oxygen is necessary for tissue survival, TcPO2 could constitute an adequate parameter for the determination of an amputation level. Among 67 amputations performed between 1983 and, 1984, we included in this study 34 patients (35 amputations), in whom TcPO2 was preoperatively measured (24 males, 10 females, mean age 67 years, range 19-86 years). Twenty two were diabetics. Twenty patients suffered from severe ischemia (stage Fontaine 4); 13 patients suffered from chronic diabetic lesions or/and osteomyelitis and two patients suffered from frostbite. The follow-up period lasted until operative wound was healed or a more proximal amputation was undertaken (mean 2.5 months, range 15 days to 10 months). Five operative wounds did not heal, so that a more proximal amputation was undertaken. TcPO2 was below 20 mm Hg in 3 of these 5 patients. TcPO2 was above 20 mm Hg in 24 among 30 patients in whom operative wound healed. When TcPO2 is above 20 mm Hg, the probability of operative wound healing is 92%. When TcPO2 is below 20 mm Hg, the risk of a more proximal amputation is 33%. Distal systolic blood pressure has no predictive value. It is concluded than when TcPO2 is above 20 mm Hg, the probability of healing of operative wound is clinically acceptable. When TcPO2 is below 20 mm Hg, 1 of 3 patients will be reamputated at a more proximal level, but healing does occur in 66% of patients.

The authors describe a modified technique for knee joint disarticulation surgery. Their approach provides two flaps, one medial and one lateral, which result in a posterior, longitudinal scar that remains outside the contact areas of the prosthesis. They abrade the lateral and posterior aspect of each condyle, peeling out the articular cartilage and re-covering the condyles with the joint capsule. This technique allows a satisfactory stability in prosthetic rotation, and improves the appearance of the artificial limb. For post-operative rehabilitation the authors use a tridimensional alignment jig and a prosthetic ankle with three degrees of freedom: flexion-extension, lateral-medial motion and rotation, making easier the swing phase while maintaining the obvious advantages of a pilon-type prosthesis.