Higher preoperative range of motion is predictive of good mid-term results in the surgical management of osteochondral lesions of the talus: a prospective multicentric study.

INTRODUCTION: Osteochondral lesions of the talus (OLT) are a frequent cause of pain in young patients and a new CT arthrographic classification system of OLT was recently proposed to help guide the choices of and standardize the indications for surgical treatment. The primary hypothesis was that this algorithm would result in a postoperative AOFAS score of ≥ 80/100. The secondary hypothesis was to identify the preoperative factors of successful surgery. METHODS: This was a prospective observational multicenter study. Eighty-six patients who underwent surgery for OLT after at least 6 months of unsuccessful conservative management were included for a mean follow-up of 15 months (12-36). Forty-nine patients with stage 1 OLT underwent microperforation, 2 patients with stage 2 OLT underwent a lift, drill, fill, and fix graft procedure with screw fixation, and 35 patients with stage 3 OLT were treated with mosaicplasty. RESULTS: After a follow-up of at least 1 year, 56 patients (65%) had an AOFAS score > 80 and the mean AOFAS score was 82 (16-100). A lower BMI (p = 0.038), a higher preoperative range of motion in the ankle (p = 0.033), higher preoperative AOFAS and FAOS scores (p = 0.001 and p = 0.011), and the presence of a preoperative bone bruise on MRI (p = 0.020) were good prognostic factors on univariate analysis. The presence of grade 1 osteoarthritis on the Van Dijk classification was predictive of a poor prognosis (p = 0.044). Multivariate analysis showed that a good preoperative range of motion (OR = 1.080 [1.020-1.150] p = 0.01) was predictive of a positive outcome, while grade 1 osteoarthritis was predictive of a poor outcome (OR = 0.147 [0.036-0.603] p = 0.008). The postoperative AOFAS decreased in six patients and 17 patients had at least one complication: six dysthesias of the superficial fibular nerve, two of the sural nerve, and nine stage 1 complex regional pain syndromes. CONCLUSION: The new algorithm for OLT resulted in a postoperative AOFAS score of ≥ 80/100 in 65% of cases. The positive predictive factors of a successful postoperative outcome were the presence of a good preoperative range of motion and the absence of preoperative osteoarthritis. LEVEL OF EVIDENCE: Level II.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

AIM: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. METHODS: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI. RESULTS: Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients. INTERPRETATION: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage.

Does antero-lateral ankle impingement exist?

Antero-lateral ankle impingement syndrome (ALAIS) is a well-established clinical entity that is a common consequence of ankle sprains. Injury to the anterior talo-fibular ligament plays a key role in the genesis of ALAIS. Arthroscopic antero-lateral synovectomy is the standard of care. However, this treatment approach may deserve to be challenged, as it does not include any procedure on the ligaments, despite the presence in some patients of lateral rotational micro-instability of the ankle, without objective laxity. Consequently, we reviewed current data on ALAIS and its links to ankle instability, from the dual perspective of diagnosis and treatment.

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in 2 genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon (HEC) has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed. We identified mutations in SLC3A1 in 80% of the HEC group and in only 49% of the CC group. The SLC3A1 p.Thr216Met mutation was found in 21% of the alleles in the HEC group but was never found in the CC group. Most of the mutations found in the HEC group were considered severe mutations in contrast with the CC group. Twenty-five novel mutations were reported. This study shows a relationship between genotype and the clinical form of cystinuria, suggesting that only the patients with the most severe mutations presented with an HEC. These results emphasized the need for prenatal cystinuria screening using classical third-trimester ultrasound scan and the early management of suspected newborns.

Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.

Active coherent combining of laser beam arrays by means of phase-intensity mapping in an optimization loop.

A new approach is proposed for the adaptive phase-locking of a set of parallel laser beams. It is based on an optical conversion of phase differences in the array into an intensity pattern which feeds an optimization algorithm for iterated adjustments of the phase modulators. A numerical analysis and proof of principle experiment support the method and demonstrate its speed.

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency.

Odorous gaseous emissions as influence by process condition for the forced aeration composting of pig slaughterhouse sludge.

Compost sustainability requires a better control of its gaseous emissions responsible for several impacts including odours. Indeed, composting odours have stopped the operation of many platforms and prevented the installation of others. Accordingly, present technologies collecting and treating gases emitted from composting are not satisfactory and alternative solutions must be found. Thus, the aim of this paper was to study the influence of composting process conditions on gaseous emissions. Pig slaughterhouse sludge mixed with wood chips was composted under forced aerationin 300 L laboratory reactors. The process conditions studied were: aeration rate of 1.68, 4.03, 6.22, 9.80 and 13.44 L/h/kg of wet sludge; incorporation ratio of 0.55, 0.83 and 1.1 (kg of wet wood chips/kg of wet sludge), and; bulking agent particles size of <10, 10<20 and 20<30 mm. Out-going gases were sampled every 2 days and their composition was analysed using gas chromatography coupled with mass spectrometry (GC-MS). Fifty-nine compounds were identified and quantified. Dividing the cumulated mass production over 30 days of composting, by odour threshold, 9 compounds were identified as main potential odour contributors: hydrogen sulphide, trimethylamine, ammonia, 2-pentanone, 1-propanol-2-methyl, dimethyl sulphide, dimethyl disulphide, dimethyl trisulphide and acetophenone. Five gaseous compounds were correlated with both aeration rate and bulking agent to waste ratio: hydrogen sulphide, trimethylamine, ammonia, 2-pentanone and 1-propanol-2-methyl. However, dropping the aeration rate and increasing the bulking agent to waste ratio reduced gaseous odour emissions by a factor of 5-10, when the required threshold dilution factor ranged from 10(5) to 10(6), to avoid nuisance at peak emission rates. Process influence on emissions of dimethyl sulphide, dimethyl disulphide, dimethyl trisulphide were poorly correlated with both aeration rate and bulking agent to waste ratio as a reaction with hydrogen sulphide was suspected. Acetophenone emissions originated from the wood chips. Olfactory measurements need to be correlated to gaseous emissions for a more accurate odour emission evaluation.

High rate of fracture in the cementless modular Extrême™ (Mark I) femoral prosthesis in revision total hip arthroplasty: 33 cases at more than 5 years' follow-up.

INTRODUCTION: The modular concept has been recommended in femoral revision surgery with extensive bone loss, but entails mechanical complications: disassembly and fracture. The present retrospective study assessed the Mark I Extrême™ modular prosthesis at a minimum 5 years' follow-up. HYPOTHESIS: A cementless modular femoral stem facilitates revision in case of extensive bone loss, providing satisfactory results without risk of junction failure. MATERIALS AND METHODS: Thirty-three prostheses presenting aseptic loosening, including 3 with periprosthetic fracture, in 23 female and 9 male patients, with a mean age of 65 years (range, 49-83 years), were reviewed at a mean 6.3 years' follow-up (range, 5-9 years). Bone loss was assessed on the SOFCOT (17/33 grade 3 or 4) and Paprosky classifications (19/33 grade III or IV). One patient died; another was lost to follow-up, leaving 31 hips for analysis. Clinical assessment comprised Postel Merle d'Aubigné (PMA) and Harris Hip scores (HHS); radiological assessment used the Engh score and corticomedullary index (CMI). RESULTS: There were 15 complications requiring surgery: 9 (27%) unrelated to the implant (1 hematoma, 2 infections, 2 dislocations, 1 femoral non-union, 3 asymptomatic trochanteric non unions) and 6 (18%) implant-related (four 3-level fractures and 2 epiphyseal-metaphyseal disassemblies, requiring 3 total exchanges and 3 proximal component replacements). PMA and HHS scores showed significant improvement, PMA rising from 10.4 (6-18) to 14.4 (11-18) and HHS from 50 (19-88) to 80.9 (52-100). Bone regrowth was "certain" on the Engh classification in 11 cases (44%). There was no diaphyseal component subsidence, even in case of fracture or dissociation. CMI at the 3 junctions between the 4 quarters of the stem showed no significant change: 32.9 and 32.7, 41.2 and 38.7, and 41.6 and 39.9 respectively. Six-year survivorship was 81% (95% CI: 68-94%). DISCUSSION: In other series for the same type of implant, the rates of fracture (always metaphyseal-diaphyseal) were much lower: 0.8-3.8%. This stem ensures diaphyseal fixation in case of extensive bone loss, but incurs excessive risk of disassembly and fracture.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

INTRODUCTION: Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and chronic kidney disease (CKD). A kidney transplant may partially correct the metabolic dysfunctions. Liver, kidney and combined liver-kidney transplantations have been advocated but no guidelines are available to identify the most suitable organ to transplant. PATIENTS AND METHODS: Four patients with MMA (mut° phenotype) received a kidney graft because of repeated metabolic decompensations, with progression to CKD in 3 patients (end-stage kidney disease in two patients and CKD stage III in one patient with an estimated glomerular filtration rate [eGFR] of 40ml/min/1.73m(2)) but normal renal function in one (eGFR of 93ml/min/1.73m(2)) before transplantation. RESULTS: The medium age at transplantation was 7.9y (5-10.2) and the median follow-up was 2.8years (1.8-4.6). Renal transplantation improved the relevant metabolic parameters in 4/4 patients and renal function in the patients with CKD. Plasma and urinary MMA levels immediately decreased and remained normal or subnormal (mean values of plasma MMA before transplantation 1530µmol/L versus 240µmol/L after transplantation, and mean values of urine MMA before transplantation 4700mmol/mol creatinine versus 2300mmol/mol creatinine after transplantation). No further acute metabolic decompensation was observed and protein-intake was increased from 0.60 to 0.83g/Kg/day. One patient transplanted at age 9.7years developed a hepatoblastoma at age 11years with subsequent neurological complications and eventually died. The three other patients are alive. Two of them remained neurologically stable. The 3rd patient who displayed choreoathetosis transiently improved his neurological condition immediately after transplantation and then remained stable. CONCLUSION: Kidney transplantation represents an interesting alternative therapeutic option in methylmalonic aciduria, for renal complications but also as a "cellular therapy" that may significantly reduce metabolic decompensations and hospitalizations. However, further neurological impairment remains possible.

Spatially dispersive scheme for transmission and synthesis of femtosecond pulses through a multicore fiber.

A new scheme is presented for fiber transmission of ultrashort laser pulses. A dispersive device divides the input pulses into spatially separated spectral components which are individually launched in the different channels of a multicore fiber before being recombined at the output by a second dispersive device. The parallel transmission of narrow spectral bands avoids self-phase modulation and could be appropriate to deliver high peak power pulses. Phase management of the spectral bands by an active element offers recovery of the seed pulse duration at the fiber output as well as pulse shaping capabilities. Both are reported in a proof of concept experiment using 190 fs input pulses and a 5 cores polarization maintaining fiber. Extension of the concept to femtosecond pulses amplification is suggested.

The impact of compaction, moisture content, particle size and type of bulking agent on initial physical properties of sludge-bulking agent mixtures before composting.

This study aimed to experimentally acquire evolution profiles between depth, bulk density, Free Air Space (FAS), air permeability and thermal conductivity in initial composting materials. The impact of two different moisture content, two particle size and two types of bulking agent on these four parameters was also evaluated. Bulk density and thermal conductivity both increased with depth while FAS and air permeability both decreased with it. Moreover, depth and moisture content had a significant impact on almost all the four physical parameters contrary to particle size and the type of bulking agent.

Characterization and modelling of the heat transfers in a pilot-scale reactor during composting under forced aeration.

The paper focused on the modelling of the heat transfers during composting in a pilot-scale reactor under forced aeration. The model took into account the heat production and the transfers by evaporation, convection between material and gas crossing the material, conduction and surface convection between gas and material in bottom and upper parts of the reactor. The model was adjusted thanks to the measurements practised during fifteen composting experiments in which five organic wastes were, each, composted under three constant aeration rates. Heat production was considered proportional to oxygen consumption rate and the enthalpy per mole oxygen consumed was assumed constant. The convective heat transfer coefficients were determined on basis of the continuous measurements of the temperatures of both the lid and the bottom part of the reactor. The model allowed a satisfying prediction of the temperature of the composting material. In most cases, the mean absolute discard between the experimental and the simulated temperatures was inferior to 2.5°C and the peaks of temperature occurred with less than 8h delay. For the half of the experiments the temperature discard between the simulated peak and the experimental one was inferior to 5°C. On basis of the calculation of a stoichiometric production of water through oxidation of the biodegradable organic matter, the simulation of water going out from material as vapour also allowed a rather satisfying prediction of the mass of water in final mixture. The influence of the aeration rate on every type of heat loss was characterized. Finally, the model was used to evaluate the impacts on material temperature caused by the change of the insulation thickness, the ambient temperature, take the lid away, the increase or the decrease of the mass of waste to compost.

Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.

OBJECTIVES: To determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria. METHODS: A prospective national survey was performed in France including all observations of isolated fetal hyperechoic colon detected at routine second- and third-trimester ultrasound over a 2-year period. Collected images were reviewed by experts. Colon was defined as being hyperechoic when its echogenicity was at least equal to that of the iliac bone. It was diagnosed when large tubular echogenic portions of the colon, without a focal mass and without posterior acoustic shadows, were observed at the periphery of the abdomen. Urinary amino acid analysis was performed after birth in the cases identified to test for cystinuria. RESULTS: Nineteen fetuses with ultrasound findings of hyperechoic colon were included, and the mothers of 16 of these agreed to participate in the study. In eight of nine cases of hyperechoic colon observed before 36 weeks' gestation cystinuria was confirmed at birth. In the seven remaining cases, observed after 36 weeks, none was found to have cystinuria and all had normal images at previous routine ultrasound scans at 22 and 33 weeks. When present, no difference in the sonographic appearance of hyperechoic colon was noted between the two groups. In the cystinuria-affected cases, the length of the hyperechoic mass appeared to increase with gestational age. CONCLUSIONS: In our experience, the presence of a hyperechoic colon at routine ultrasound scan before 36 weeks' gestation should prompt screening for cystinuria at birth, while later observation (> 36 weeks) of this finding does not appear to be related to any disease.

Comparison of five organic wastes regarding their behaviour during composting: part 1, biodegradability, stabilization kinetics and temperature rise.

This paper aims to compare household waste, separated pig solids, food waste, pig slaughterhouse sludge and green algae regarding their biodegradability, their stabilization kinetics and their temperature rise during composting. Three experiments in lab-scale pilots (300 L) were performed for each waste, each one under a constant aeration rate. The aeration rates applied were comprised between 100 and 1100 L/h. The biodegradability of waste was expressed as function of dry matter, organic matter, total carbon and chemical oxygen demand removed, on one hand, and of total oxygen consumption and carbon dioxide production on the other. These different variables were found closely correlated. Time required for stabilization of each waste was determined too. A method to calculate the duration of stabilization in case of limiting oxygen supply was proposed. Carbon and chemical oxygen demand mass balances were established and gaseous emissions as carbon dioxide and methane were given. Finally, the temperature rise was shown to be proportional to the total mass of material biodegraded during composting.

Maternal and fetal tyrosinemia type I.

A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day). Median plasma tyrosine levels were 560 µmol/L (range: 375-838, n = 21) and nitisinone 51 µmol/L (range: 41-57, n = 3) during pregnancy. She gave birth to a clinically healthy girl affected with tyrosinemia type 1. Birth was normal (birth weight 2615 g) and the baby had normal liver function, normal plasma alpha-fetoprotein concentrations, low urinary excretion of phenolic acids and no detectable succinylacetone. At birth, the baby had hypertyrosinemia (860 µmol/L in blood cord) and nitisinone levels of 14 µmol/L. Following molecular confirmation of the diagnosis of HT1 specific treatment began on day 15 by which time she had detectable urinary succinylacetone.

Comparison of five organic wastes regarding their behaviour during composting: part 2, nitrogen dynamic.

This paper aimed to compare household waste, separated pig solids, food waste, pig slaughterhouse sludge and green algae regarding processes ruling nitrogen dynamic during composting. For each waste, three composting simulations were performed in parallel in three similar reactors (300 L), each one under a constant aeration rate. The aeration flows applied were comprised between 100 and 1100 L/h. The initial waste and the compost were characterized through the measurements of their contents in dry matter, total carbon, Kjeldahl and total ammoniacal nitrogen, nitrite and nitrate. Kjeldahl and total ammoniacal nitrogen and nitrite and nitrate were measured in leachates and in condensates too. Ammonia and nitrous oxide emissions were monitored in continue. The cumulated emissions in ammonia and in nitrous oxide were given for each waste and at each aeration rate. The paper focused on process of ammonification and on transformations and transfer of total ammoniacal nitrogen. The parameters of nitrous oxide emissions were not investigated. The removal rate of total Kjeldahl nitrogen was shown being closely tied to the ammonification rate. Ammonification was modelled thanks to the calculation of the ratio of biodegradable carbon to organic nitrogen content of the biodegradable fraction. The wastes were shown to differ significantly regarding their ammonification ability. Nitrogen balances were calculated by subtracting nitrogen losses from nitrogen removed from material. Defaults in nitrogen balances were assumed to correspond to conversion of nitrate even nitrite into molecular nitrogen and then to the previous conversion by nitrification of total ammoniacal nitrogen. The pool of total ammoniacal nitrogen, i.e. total ammoniacal nitrogen initially contained in waste plus total ammoniacal nitrogen released by ammonification, was calculated for each experiment. Then, this pool was used as the referring amount in the calculation of the rates of accumulation, stripping and nitrification of total ammoniacal nitrogen. Separated pig solids were characterised by a high ability to accumulate total ammoniacal nitrogen. Whatever the waste, the striping rate depended mostly on the aeration rate and on the pool concentration in biofilm. The nitrification rate was observed as all the higher as the concentration in total ammoniacal nitrogen in the initial waste was low. Thus, household waste and green algae exhibited the highest nitrification rates. This result could mean that in case of low concentrations in total ammoniacal nitrogen, a nitrifying biomass was already developed and that this biomass consumed it. In contrast, in case of high concentrations, this could traduce some difficulties for nitrifying microorganisms to develop.

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

OBJECTIVE: To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN: Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied retrospectively. The median follow-up was 8.3 y (range: 1.4-19.5). Patients were investigated with neuropsychological testing, brain MRIs, inulin clearances, biochemical and genetic studies. RESULTS: Fifteen patients had a neonatal onset. Thirteen patients (43%) had significant neurological impairment. Chronic renal disease (CRD) occurred in 14 patients (47%) with a median age of onset of 6.5 y (range 1.5-18.6). Renal function further deteriorated in 4 patients within a median period of 5.8 y (range 2-7.4). Of 25 patients investigated at the enzymatic level, 17 were classified mut(o), 3 mut- and 5 cblA. Mortality, number of acute decompensations (p=0.031), median MMA urinary excretion (p=0.006) and neurological impairment (p<0.0001) were higher in mut degrees patients compared to mut-/cblA patients. Concerning the CRD, no difference incidence was found although the onset of CRD occurred earlier in mut(o) patients and was more severe. CONCLUSIONS: Our study provides unique data concerning the progression of renal disease in MMA. Patients with mut(o) phenotype have a more severe phenotype and probably an earlier and more severe CRD than patients with mut-/cblA phenotype.