Dietary practices in propionic acidemia: A European survey.

BACKGROUND: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. AIM: To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. METHODS: This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014. RESULTS: Information on protein restricted diets of 186 PA patients from 47 centres, representing 14 European countries was collected. Total protein intake [PA precursor-free L-amino acid supplements (PFAA) and natural protein] met WHO/FAO/UNU (2007) safe protein requirements for age in 36 centres (77%). PFAA were used to supplement natural protein intake in 81% (n = 38) of centres, providing a median of 44% (14-83%) of total protein requirement. Seventy-four per cent of patients were prescribed natural protein intakes below WHO/FAO/UNU (2007) safe levels in one or more of the following age groups: 0-6 m, 7-12 m, 1-10 y, 11-16 y and > 16 y. Sixty-three per cent (n = 117) of patients were tube fed (74% gastrostomy), but only 22% received nocturnal feeds. CONCLUSIONS: There was high use of PFAA with intakes of natural protein commonly below WHO/FAO/UNU (2007) safe levels. Optimal dietary management can only be determined by longitudinal, multi-centre, prospective case controlled studies. The metabolic instability of PA and small patient cohorts in each centre ensure that this is a challenging undertaking.

Dietary practices in isovaleric acidemia: A European survey.

BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. RESULTS: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. CONCLUSIONS: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

Dietary management of urea cycle disorders: European practice.

BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16y and 30% (n=137) >16y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. CONCLUSIONS: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required.

Exploration of verbal and non-verbal semantic knowledge and autobiographical memories starting from popular songs in Alzheimer's disease.

BACKGROUND: In mild Alzheimer's disease (AD), a deficit in episodic memory, particularly autobiographical memory, is clearly established. Several recent studies have also shown impaired semantic memory from the onset of the disease. Musical memory capacities may be especially preserved and listening to music might encourage autobiographical recall. The aim of this study was to explore recall of popular songs in AD. METHODS: We tested 12 patients with mild AD and 12 control subjects. We created a tool made up of old French popular songs: POP 10. This tool is a questionnaire composed of several subtests: melodic free recall, chorus free recall, melodic recognition, chorus recognition, semantic knowledge, autobiographical recall about the song, and autobiographical recall about the interpreter. RESULTS: We used non-parametric tests, the Mann-Whitney test (M-W), the Friedman test, and the a posteriori Wilcoxon test. Results of AD patients were rather similar to those of control participants for melodic memory. Concerning chorus memory (except recognition), semantic knowledge, and autobiographical recall about the interpreter, results of AD patients were significantly weaker than those of control participants. The most important result concerned autobiographical recall about the song: we found no impairment-related differences between the two groups. CONCLUSION: Our findings demonstrate that popular songs can be excellent stimuli for reminiscence, such as the ability to produce an autobiographical memory related to a song. Thus, we confirm that musical semantic knowledge associated with a song may be relatively preserved in the early stages of AD. This leads to new possibilities for cognitive stimulation.

Fat intakes of children with PKU on low phenylalanine diets.

BACKGROUND: As part of a study on the effects of a fat-supplemented phenylalanine (phe)-free protein substitute on the fatty acid status of children with phenylketonuria (PKU), the adequacy of the diets of children aged 1-10 years for fat and essential fatty acids (EFA) was assessed. METHODS: Subjects randomized in a 1 : 1 ratio to a phe-free protein substitute supplemented with EFA (test-treatment group) or a phe-free, fat-free protein substitute (control group) for 20 weeks. 3-day semi-weighed records of food intakes collected at the end of the study period. RESULTS: Total fat and alpha-linolenic acid (alpha-LA) intakes were found to be poor in the control group (n = 19). Those in the test-treatment group (n = 24) had higher fat and EFA intakes (P < 0.05), bringing intakes closer to population norms. The youngest children (<5 years of age) in the control group appeared to be especially vulnerable to poor fat intakes because of the restricted diversity of their diets and, regardless of age, alpha-LA intakes by this group were poor compared with the non-PKU population. CONCLUSIONS: The quantity and quality of fat in the diets of children with PKU, in particular young children, should be given careful consideration in trying to optimize the ratio of linoleic acid: alpha-LA in their diets and in satisfying the requirements of this group for fat and alpha-LA.

Physical alginate hydrogels based on hydrophobic or dual hydrophobic/ionic interactions: bead formation, structure, and stability.

Hydrophobically associating alginate (AA) derivatives were prepared by covalent fixation of dodecyl or octadecyl chains onto the polysaccharide backbone (AA-C12/AA-C18). In semidilute solution, intermolecular hydrophobic interactions result in the formation of physical hydrogels, the physicochemical properties of which can be controlled through polymer concentration, hydrophobic chain content, and nonchaotropic salts such as sodium chloride. The mechanical properties of these hydrogels can then be reinforced by the addition of calcium chloride. The combination of both calcium bridges and intermolecular hydrophobic interactions leads to a decrease in the swelling ratio accompanied by an increase of elastic and viscous moduli. Beads made of hydrophobically modified alginate were obtained by dropping an aqueous solution of alginate derivative into a NaCl/CaCl2 solution. As compared to unmodified alginate beads, modified alginate particles proved to be stable in the presence of nongelling cations or calcium-sequestering agents. However, evidence is presented for a more heterogeneous structure than that of plain calcium alginate hydrogels with, in particular, an increase in the effective gel mesh size, as determined by partition and diffusion coefficient measurements.

Description of multicomponent adsorption and absorption phenomena from a single viewpoint.

On the basis of phenomenological thermodynamics, an equation has been derived that represents one of the interphase equilibrium equations and provides a description of both multicomponent adsorption and absorption phenomena from a single point of view. The approach is based on a free-volume state equation for the adsorbed phase. It is shown that the well-known Henry, Langmuir, Fowler-Guggenheim, Temkin, and BET adsorption equations (generalized for gas mixtures) follow directly from the equation proposed with constants having a clear physical meaning.

Plasma cholesterol and endogenous cholesterol synthesis during refeeding in anorexia nervosa.

Normal or high levels of cholesterol have been measured in patients with anorexia nervosa (AN). Given that cholesterol intake in AN is usually very low, the reasons for this anomaly are not clearly understood. We studied lipid and lipoprotein profiles and endogenous cholesterol synthesis, estimated by serum lathosterol, in a population of 14 girls with AN, before and during a period of 30 days refeeding. The initial body mass index (BMI) of the patients was 13.41+/-1.62 kg/m(2). No changes were observed during refeeding in endocrine parameters (ACTH, cortisol and estradiol). At Day 0 the lipids data measured here showed normal levels of triglycerides, and total cholesterol at the upper limits of the normal range (5.44+/-1 mmol/l). At this time, total and LDL cholesterol were negatively correlated with transthyretin and BMI. Serum lathosterol (a precursor in cholesterol synthesis pathway) increased significantly (5.99+/-1.75 (Day 0) vs. 8.39+/-2.96 (Day 30); P=0.02) while there was a significant decrease in apo B (0.79+/-0.33 (Day 0) vs. 0. 60+/-0.17 g/l (Day 30), P=0.02) with refeeding. Thus, patients with initial high cholesterol levels have the worst nutritional status and high cholesterol levels are not related to a de novo synthesis. This profile returns to normal with refeeding. An increase of cellular cholesterol uptake may be responsible for this apparently paradoxical evolution with increase of cholesterol synthesis and decrease of apo B during renutrition.

[Halitosis in 1999]. / L'halitose en 1999.

Bad breath is a major concern to the general population and a source of an important profit industry world wide. Between 50 and 60 per cent of the population suffer from chronic halitosis. This can have consequences for private or professional life. Reasons can imply many specialities: ENT, gastro-enterology, pneumology, hepatology, genetics and psychiatry (a high percentage of the patients who come to the clinic with a primary complaint of halitosis do not have a detectable problem). Nevertheless, 85% are stomatological and are explained by the release of volatile sulfur compounds. These substances have a very offensive odor in very low concentrations. A specialized device called a halimeter is available to measure the volatile sulphur compounds in mouth air but in practice the objective assessment of malodor is still best performed by the organoleptic method. A careful examination can determine the patient's problem in most cases. Initial treatment strategy should focus on the exact cause and on oral hygiene. In addition to the usual recommendations, the daily use of tongue cleaners is very beneficial. Other than etiologic therapy, masking can be achieved by oral care products (mouth rinses, toothpastes, chewing gums) which contain metal ions, especially zinc, that inhibit odor formation because of its affinity to sulphur compounds.

[Osteosynthesis of subcondylar fractures using compression screws with the Eckelt technic. Experiences and difficulties with the technic over 5 years]. / Ostéosynthèse des fractures sous-condyliennes par vissage en compression selon la technique d'Eckelt. Expérience et difficultés de la technique sur 5 ans.

With creation of new fixation material, the surgical treatment of displaced subcondylar fractures is most frequently used in adults. The Eckelt compression osteosynthesis is described as an easy procedure in the current literature, but, in our experience, several problems require our attention. We report the treatment of 57 patients with displaced subcondylar fractures where compression osteosynthesis was indicated. The difficulty of this technique is presented on the basis of a 5-years experience.

[Parietal grafts in maxillofacial and pre-implant surgery]. / Les greffons pariétaux en chirurgie maxillo-faciale et pré-implantaire.

Due to the recent regulations generated by the diversity of infectious risks, autologous bone is the standard graft material in maxillofacial surgery. Although synthetic biomaterials can be useful, they remain insufficient in many situations. Among the many sites offering graft material, monocortical parietal bone which is accessible within the craniocephalic operative field has distinguishing characteristics due to its membranous embryological origin and its mode of direct ossification which does not include a cartilaginous stage. The proportion of cancellous bone per unit volume is much higher than in enchondral bone (iliac bone, ribs...). These factors are undoubtedly the source of its main qualities--very little resorption and excellent capacity for bony integration--motivating its increasingly widespread use over the past twenty years. We present our experience in a series of patients who underwent surgery between 1992 and 1997. Parietal bone was used for orthognathic, pre-implant or reconstruction surgery after trauma or carcinological trauma. We present a description of the surgical procedures together with morbidity results and compare our findings with those found in large series in the literature, particularly concerning rare neuromeningeal complications. We discuss indications for parietal grafts and their course at the receiver site.

[Streptomyces somaliensis mycetoma with craniofacial involvement]. / Mycétome à Streptomyces somaliensis de localisation crânio-faciale.

Mycetoma is a chronic granulomatous infection of the skin from which grains of the causative organism are eliminated via the sinus tracts. We report a rare case of cephalic mycetoma, which presented with an extensive involvement of the skull vault, base and an extradural granuloma. The diagnosis and treatment of the disease are discussed.

[Gunshot wounds and injuries of the face in civilian practice]. / Plaies et traumatismes balistiques de la face en pratique civile.

Firearm wounds are relatively frequent in civilian practice. Due to the variable power of the weapons involved, a wide range of maxillofacial lesions are encountered and classification is a difficult task. In order to predict the gravity of the lesions, we have drawn a classification scheme from our experience with maxillofacial injuries. The scheme was based on the kind of ammunition which gives a better classification than the type of weapon. Three main categories have been identified.

Structure-activity relationships in platelet-activating factor (PAF). 7. Tetrahydrofuran derivatives as dual PAF antagonists and acetylcholinesterase inhibitors. Synthesis and PAF-antagonistic activity.

2,5-Disubstituted tetrahydrofuran derivatives present a dual activity: they are effective PAF antagonists and acetylcholinesterase inhibitors. In this paper their synthesis and in vitro PAF-antagonistic effect are described. Introduction in position 2 of a long aliphatic chain bearing a carbamate group and a pyridinium moiety appears to be required for potent platelet aggregation inhibition. Substitution in position 5, or cis-trans isomerism do not induce any increase in activity. No correlation can be established between global lipophilicity and the anti-aggregant activity. Structural requirements for a potent activity are discussed and are consistent with the hypothesis we have proposed for the PAF receptor considered as a multipolarized structure with alternants of electropositive, electronegative and hydrophobic areas.

Structure-activity relationships in platelet-activating factor (PAF). 8. Tetrahydrofuran derivatives as dual PAF antagonists and acetylcholinesterase inhibitors: anti-acetylcholinesterase activity and comparative SAR.

2,5-disubstituted tetrahydrofuran derivatives display a dual functionality: they are PAF antagonists and acetylcholinesterase (AChE) inhibitors. In vitro anti-AChE activity and in vivo trials are presented herein. These compounds are competitive and potent AChE inhibitors. Structure-activity relationships are described and compared with PAF-antagonist results. The presence of an onium group, a suitable distance supplied by a chain of 7 or 10 carbon atoms separating the function from the polar head and an appreciable chain hydrophobicity (4 < sigma f < 7) are the main features required for a dual activity. The derivatives are evaluated in a mouse passive avoidance model. Only compounds with both activities are able to reverse scopolamine-induced amnesia. In addition, they display a very weak toxicity.

[Intermittent infusions of dobutamine in the treatment of chronic cardiac failure in the terminal stage]. / Perfusions intermittentes de dobutamine dans le traitement des défaillances cardiaques chroniques au stade terminal.

This study was designed to evaluate the efficacy of intermittent dobutamine infusions in patients with end-stage congestive heart failure. Twenty-four patients with NYHA Stage IV congestive heart failure were included. Mean age was 65.8 years (range 40-85). All patients were under optimal medical therapy with digitalis, diuretics and vasodilating agents. Diagnosis was coronary heart disease in 11 patients, dilated cardiomyopathy in 9, and valvular incompetence in 4. Dobutamine was given in an initial dosage of 2.5 micrograms/kg/min increased by 2.5 micrograms/kg/min every 15 minutes until the desired effect was achieved. Mean dosage was 10 micrograms/kg/min. Patients were given an identical infusion two weeks later, then at monthly intervals after improvement of the clinical status. Heart failure stage was improved in all patients: 14 patients were stage II and 10 were stage III. Ejection fraction failed to improve (19.5 +/- 10 to 18.5 +/- 5). Mortality rate was 5% at one year, 24% at two years, and 45% at four years.