Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

INTRODUCTION: Fatty-acid oxidation disorders (FAODs) are recessive genetic diseases. MATERIALS AND METHODS: We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases. RESULTS: The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl-CoA deficiency (20%), 13 with very long-chain acyl-CoA dehydrogenase deficiency (30%), three with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (7%), and five with short-chain acyl-CoA dehydrogenase deficiency (11%). Disease onset occurred during childhood in the majority of patients (59%), with a mean age at onset of 15 years (range = 0.5-35) and a mean of 12.6 years (range = 0-58) from disease onset to diagnosis. The principal symptoms were acute muscle manifestations (rhabdomyolysis, exercise intolerance, myalgia), sometimes associated with permanent muscle weakness. Episodes of rhabdomyolysis were frequent (84%), with a mean creatinine kinase level of 68,958 U/L (range = 660-300,000). General metabolic complications were observed in 58% of patients, respiratory manifestations in 18% of cases, and cardiological manifestations in 9% of cases. Fasting acylcarnitine profile was used to orient genetic explorations in 65% of cases. After a mean follow-up of 10 years, 33% of patients were asymptomatic and 56% continued to display symptoms after exercise. The frequency of rhabdomyolysis decreased after diagnosis in 64% of cases. CONCLUSION: A standardized register would complete this cohort description of muscular forms of FAODs with exhaustive data, making it possible to assess the efficacy of therapeutic protocols in real-life conditions and during the long-term follow-up of patients.

Conservative management in ureteric hydronephrosis due to deep endometriosis: Could the levonorgestrel-intrauterine device be an option?

Endometriosis can affect up to 10% of women of reproductive age, in a wide range of clinical presentations that vary from mild to severe or deep endometriosis. Deep endometriosis can affect the urinary tract in 1-5% to 15-25% cases. Even though deep endometriosis' surgeries are usually complex with higher rate of complications, conservative management is not always considered as an option because of its high failure rates. This paper describes two cases of deep endometriosis with ureteric involvement (hydronephrosis) treated conservatively with a double-pigtail stent plus a Levonorgestrel intrauterine device, after conservative surgery, who remained symptom free with no evidence of recurrence at 3 years follow-up, avoiding radical high-risk surgery. Impact statement Several treatments have been described for endometriosis. From a symptomatic perspective, conservative medical management has been proposed with a variable response. Concerning deep endometriosis (affecting the urinary or digestive tract), the definitive treatment has always been thought to be radical surgery. However, this can lead to several complications. To illustrate a possible more conservative approach this paper describes two cases of deep infiltrating endometriosis affecting the ureter, treated conservatively with a temporary pigtail ureter stent plus a Levonorgestrel intrauterine device. The management demonstrates that, in a selected population, conservative treatment solves the urinary disease avoiding the surgical complications and, what is more, improving patients' symptoms in a permanent way. Further prospective studies are needed to confirm whether the introduction of this management in clinical practice would reduce the need for surgery thereby, avoiding high-risk surgery and improving the success rate of conservative management.

Comparison of Different Treatment Regimens for Long-term Improvement of Renal Function in Patients with Henoch-Schönlein Purpura: A Systematic Review.

BACKGROUNDS: Henoch-Schönlein purpura (IgA vasculitis) is the most common childhood vasculitis, one of its complications is renal involvement. However, several treatment regimens have been proposed to improve renal function in the long term, but which drug regimen can be most effective is still controversial. METHODS: This study was a systematic review. In order to find evidence related to the purpose of this study, databases including Google Scholar, Web of Science, ProQuest and Medline via PubMed, and Scopus were searched with the appropriate keywords. QUADAS-2 (a Quality Assessment tools for Diagnostic Accuracy Studies) checklist was also used to evaluate the quality of studies. Based on the keywords used in reviewing the information sources of scientific articles, in the first stage, 86 studies were included in the review. Taking into account characteristics such as lack of homogeneity with the objectives of the present study, finally, 11 studies were selected for analysis and final evaluation. RESULTS: A total of 11 studies, including 722 patients in the age range of 5.5 to 9.9 years with HSP were included in the study. The follow-up period of the patients varied from 6 months to 16 years in terms of examining the treatment process. In terms of study type, 7 studies were conducted as prospective or retrospective (non-interventional) cohorts and 4 studies as randomized clinical trials. The treatment regimen of injectable methylprednisolone followed by oral prednisolone resulted in a long-term recovery of 79.2% (95% confidence interval between 0.66% and 88.2%); however, the need for additional immunosuppressive in two studies was mentioned as 38% and 46.1%, respectively. In the therapeutic regimen of oral methylprednisolone alone, a significant improvement in long-term renal function was achieved in comparison with placebo. Administration of injectable methylprednisolone followed by cyclosporine A had the highest effectiveness in terms of improving renal function in the long term. CONCLUSION: Regimes based on the administration of prednisolone (either oral or injectable, either as a single drug or as a combination) lead to long-term improvement of renal function in patients with HSP, but the use of other immunosuppressive drugs such as cyclosporine A, of course, with optimizing the drug dose can lead to a significant improvement in the clinical performance.

Long-term recovery profile of patients with severe disability or in vegetative states following severe primary intracerebral hemorrhage.

PURPOSE: We conducted a single-center retrospective review to investigate the long-term recovery of patients who were severely disabled or vegetative secondary to primary intracerebral hemorrhage upon discharge from hospital from January 2009 to November 2013. METHODS: Patients were categorized into two groups based on their Glasgow outcome scale (GOS) scores at discharge, namely vegetative state (GOS 2; n = 91) and severely disabled (GOS 3; n = 278). Long-term outcomes at three years post discharge were defined as death, stable, deterioration and improvement from discharge to follow-up. RESULTS: Lower mortality (29% versus 69%) and higher neurological improvement rates at three years (33% versus 10%) were observed in the SD compared to VS group (both p = .0001). Age was a significant predictor of survival in the VS group (p = .03) and the SD group (p = .012). Age was also the only predictor of neurological improvement in the SD group (p = .01). CONCLUSIONS: Neurological status at discharge from hospital was not truly indicative of long-term prognosis for patients who were severely disabled or vegetative. Patients in both groups can potentially improve in the long term and may benefit from prolonged rehabilitation programmes to maximize their recovery potential.