Raymondmcgarry1669

Furthermore, it may be useful if the model and philosophy that were applied over the last three decades could be adapted by broadening the scope of disasters leading to intervention. Actions should be guided and coordinated by a panel of experts steering ad hoc interventions, rather than applying the "old" static model where a single coordinating center instructs and uses volunteers listed long before a potential event occurs.Primary hyperoxalurias are rare disease with autosomal recessive inheritance; they often lead to kidney failure and can lead to life-threatening conditions, especially in early onset forms. There are three types, responding to distinct enzyme deficits. Type 1 represents 85% of cases and results from an enzyme deficiency (alanine-glyoxylate aminotransferase) in the peroxisomes of the liver, causing hyperoxaluria leading to urolithiasis with or without nephrocalcinosis. As glomerular filtration decreases, a systemic overload appears and spares no organ. Treatment has hitherto been based on combined liver and kidney transplantation, with significant mortality and morbidity. The recent introduction of interfering RNA treatments opens up new perspectives. By blocking an enzymatic synthesis (glycolate oxidase or lacticodehydrogenase a) upstream of the deficit that causes the disease, oxaluria normalizes and the tolerance of the drug (administered by injection every 1 to 3 months) is good. This strategy will help prevent kidney failure in patients treated early and avoid liver transplantation in those who are diagnosed at an advanced stage of kidney failure.Familial Mediterranean fever is the most frequent autoinflammatory disease with autosomal recessive transmission. Most patients carry mutations in the MEFV gene encoding the protein marenostrin/pyrin. It is characterised by short ant recurrent attacks of fever and serositis with abdominal or thoracic pain, usually lasting less than 3 days, raised inflammatory biologic markers in an individual of Mediterranean origin. Colchicine has been shown to be effective in prevention of inflammatory attacks and development of amyloidosis which is responsible of nephrotic syndrome and chronic renal failure. Better knowledge in pathogenic mechanisms permitted identification of interleukin-1 beta (Il-1 β) as the main cytokine target. Anti-IL-1 therapy must be considered as a second line treatment in case of persistent inflammation or colchicine intolerance.Age per se should not be a contraindication to kidney transplantation. The first studies have shown a benefit for the survival of elderly eligible patients getting a kidney transplant compared to be maintained on the waiting list. However, more recent data suggest that this benefit is not as constant, notably with a significant early mortality period. The eligibility of elderly patients for transplantation must be based on the usual consideration of co-morbidities, but should also include, for some patients, a geriatric evaluation to detect clinical symptoms of frailty. The decision to transplant an elderly recipient must also integrate the characteristics of the donors, since the use of donors with increasingly expanding criteria can have a negative impact on the survival of these patients.Fabry disease is due to mutations in the GLA gene that cause a deficiency of the activity of the lysosomal enzyme alpha-galactosidase A (α-gal A) resulting in intra-tissue accumulation of globotriaosylceramide. Recently, a novel therapeutic approach based on the pharmacological chaperone migalastat has been developed. It binds, in a specific and reversible manner, to the catalytic site of α-gal A mutants, to prevent their degradation by the quality control system of the endoplasmic reticulum and allow them to catabolize globotriaosylceramide in the lysosomes. This treatment concerns approximately 35% of the GLA gene mutations recognized as sensitive to migalastat according to an in vitro pharmacogenetic test. Two pivotal Phase III studies, FACETS migalastat vs. placebo and ATTRACT migalastat vs. enzyme replacement therapy analyzed the in vivo effects of migalastat. Despite some methodological limitations, promising results were found. Migalastat seems to be more effective than enzyme replacement therapy in reducing left ventricular mass index in case of cardiac hypertrophy and has comparable renal effects. This oral treatment is the first personalized treatment, based on the genetic profile of Fabry patients and opens a new era in the management of conformational diseases.Chronic kidney disease (CKD) is characterized by the progressive decline of renal function, that occurs once a critical number of nephrons has been lost, regardless the etiology. CKD prevalence is constantly increasing, especially with age. Nevertheless, the molecular mechanisms underlying this progression are not very well known. With an increasing number of patients with CKD, especially elderly patients, it urges to better understand the pathophysiology of this progression to elaborate new therapeutic strategies. Recent works have highlighted the role of some cellular processes, such as senescence, during age-related kidney dysfunction. Senescence corresponds to a cellular state associated with a cell cycle blockade. Although the cell cannot proliferate, she is able to secrete a lot of proteins grouped under the term of senescence associated secretory phenotype (SASP). Identification of molecular mechansims involved in age related kidney dysfunction could help to determine new therapeutic targets.Cystinuria is the most common monogenic nephrolithiasis disorder. GSK503 Because of its poor solubility at a typical urine pH of less than 7, cystine excretion results in recurrent urinary cystine stone formation. A high prevalence of high blood pressure and of chronic kidney disease has been reported in these patients. Alkaline hyperdiuresis remains the cornerstone of the preventive medical treatment. To reach a urine pH between 7.5 and 8 and a urine specific gravity less than or equal to 1.005 should be the goal of medical treatment. D-penicillamine and tiopronin, two cysteine-binding thiol agents, should be considered as second line treatments with frequent adverse events that should be closely monitored.Nephrotic syndrome is in adult patients mainly due to membranous nephropathy (MN) characterized by thickening of the glomerular basement membrane (GBM) and immune complex formation between podocytes and the GBM. Autoantibodies directed against the M-type phospholipase A2 receptor (PLA2R) and thrombospondin 1 domain-containing 7 A (THSD7A) can be used as diagnostic biomarkers. THSD7A seems to be of direct pathogenic significance as is suggested by experimental models and plasmapheresis in humans. Recently, further antigens like NELL-1 (neural tissue encoding protein with EGF-like repeats-1), exostosin 1 and 2 have been discovered. Thus, MN should be classified into antibody positive and antibody negative MN. More specific immunosuppressive treatments directed against B-cells and antibody production like rituximab have been introduced in addition to already existing immunosuppressive protocols including steroids, chlorambucil, cyclophosphamide, and calcineurin inhibitors. Antibody removal using immunoadsorption or plasmapheresis leads to short-term reduction in proteinuria and might be indicated only in patients with very severe proteinuria and complications. Studies are needed to identify a more specific immunosuppression directed against the production and effects of autoantibodies in order to protect the kidneys from autoimmune mediated tissue damage and to identify patients who require an immunosuppressive treatment, as the remission rate is high in patients with MN.

Most Pipkin I and II femoral head fractures are treated with either an anterior or a posterior approach. A medial hip approach is commonly used in children, and some surgeons have suggested it for femoral head fixation. The objectives of this study were to identify the structures at risk with the medial hip approach and to demonstrate the areas of the femoral head exposed using this approach.

The first part of this study involved vascular injection conducted in four fresh human cadavers using the medial hip approach. The surgical technique was described and the structures at risk, mainly arteries, were identified. The second part was done in 14 hips to identify and measured the maximum exposure area of the femoral head with the medial hip approach.

The structures at risk with the medial hip approach were the medial femoral circumflex artery (MFCA) after it branches from the deep femoral artery and runs posteromedially across the femoral neck medial to the iliopsoas tendon and the deep branch of the MFCA of Pipkin II, but it requires that the MFCA be protected by the use of meticulous surgical techniques.

The structures at risk with the medial hip approach is the MFCA along the anterior acetabular rim and the deep branch on the posteromedial aspect of the femoral neck. It is an alternative which provides excellent access in Pipkin I and some part of Pipkin II, but it requires that the MFCA be protected by the use of meticulous surgical techniques.

Achilles tendon rupture and soft tissue infections with wound dehiscence and tendon exposure following the tendon repair are not infrequent. Various procedures have been described for the reconstruction of soft tissue defects at the Achilles tendon region, yet there is lack of consensus on the ideal method. In this article we report our experience using the distally based peroneal artery perforator flap in reconstruction of combined defects of the Achilles tendon and overlying soft tissue.

7 patients with Achilles tendon injury and full-thickness soft tissue defects over the Achilles region underwent tendon repair and soft tissue reconstruction with the distally based peroneal artery perforator flap. Perforator vessels were identified at the septum between the peroneus longus and soleus muscles. After choosing the perforator with the largest diameter, meticulous deep dissection of the perforator was performed and completed 6 cm proximal to the lateral malleolus. The peroneal artery was transected and ligatective surface to allow tendon gliding and prevent tissue adhesions after the tendon repair, provided by the crural fascia included in the flap, (4) obviating the need for microsurgical anastomosis and associated length of the operation.

Distally based peroneal artery perforator flap can be considered as a reliable alternative for the reconstruction of soft tissue defects around the Achilles tendon region. Advantages include (1) extended reach of the flap for the defects around the plantar and dorsal aspects of the foot, provided by the perforator dissection, (2) convenience with footwear and walking, provided by the skin texture similarity with the target region, (3) creating a protective surface to allow tendon gliding and prevent tissue adhesions after the tendon repair, provided by the crural fascia included in the flap, (4) obviating the need for microsurgical anastomosis and associated length of the operation.

Non-union after fracture depicts a devastating complication in trauma surgery and studies assessing patient-reported outcome measures after stable bone consolidation are rare. Therefore, we aimed to evaluate the long-term impact of aseptic long bone non-union on the patients' physical health state and psychological wellbeing. For this purpose, quality of life after successful surgical treatment of long bone non-union was assessed.

Sixty-one patients with aseptic long bone non-union surgically treated in our department between November 2009 and March 2019 with achieved bone consolidation were included. Quality of life was evaluated with the EQ-5D and SF-36 outcome instruments as well as with an ICD-10 based symptom rating (ISR) and compared to normative data.

With a minimum follow-up time of one year after the last surgery (mean 4.7±2.7 years) the mean physical health component score of the SF-36 was 38.9±13.7 and the mean mental health component score of the SF-36 was 49.0±5.9, indicating lower quality of life compared to German normative values of 48.