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The article focuses on the relationship between the use of metformin, a commonly prescribed medication for type 2 diabetes, and vitamin B12 deficiency among diabetic patients, highlighting the potential health implications. It discusses the mechanism behind vitamin B12 absorption, emphasizing how deficiency can impact metabolic and neurological health.

Biopolymers have many properties important for food industry. Due to their high biocompatibility and targeted release, they can be used for development of novel, functional food. Grapefruit is a citrus with benefits for consumer’ health, especially as anti-obesity or anti-diabetic agent. The aim of this paper was to develop a new functional product: yogurt with capsules of grapefruit essential oil. Thus, yoghurt with 10 %, respectively 20 % capsules were obtained by simulating the industrial process. In order to establish the optimal stage of the process for capsules’ addition, they were added before and after fermentation. According to the results, products with good sensorial properties was developed, no matter the addition time, but better results in order of syneresis, water holding capacity and acidity were observed for samples with capsules added before fermentation process. The yogurt with grapefruit essential oil capsules represents a good idea for a novel functional food product.

Subclinical cortisol adenoma (SCIA) is a benign tumour that secretes cortisol autonomously, but is not sufficient to cause overt clinical and biological Cushing’s syndrome, but can suppress the corticotropic axis to varying degrees. The aim of our study is to determine whether lipid disturbance can be a marker of subclinical cortisol secretion. Materials and methods: Case-control study comparing patients followed for subclinical cushing’s syndrome (SCIC) (group B) to patients followed for non-functional adrenal adenomas (group A) at the Endocrinology and Metabolic Disease Department at the Hassan II University Hospital in Fez for three years. Results: Group B had a higher cortisol after minute braking test than group A [(5 ± 2.6 µg/dL vs. 1.02 ± 0.38 µg/dL) (P < 0.05). It was found that 48% of patients in group B had a metabolic syndrome vs. 29.62% in group A (p = 0.013) and that lipid disturbances were significantly correlated with CICS (56.2 vs. 18.4%) (P<0.05). Conclusion: Our study shows that lipid balance can predict cortisol secretion in subclinical cortisolic adenomas. [ABSTRACT FROM AUTHOR]

Animal models are very important for biomedical research. Rodents and lagomorphs are the most commonly used species to study the developmental origins of health and disease or DOHaD but larger species such as sheep are essential due to their gestation period and fetal physiological characteristics. In addition, the use of animal models allows the identification of the window(s) of vulnerability such as the preconception, peri-implantation, gestational and/or lactation periods. Disturbances in the maternal environment (nutritional or metabolic environment, exposure to environmental contaminants) during these different critical periods impact on the phenotype of the offspring. These studies also make it possible to evaluate or anticipate long-term effects on the offspring, whereas explorations remain limited via human cohorts due to the intergenerational time step. Finally, this chapter will discuss the interest of these models for testing interventional therapies before their implementation in humans. [ABSTRACT FROM AUTHOR]

Hereditary metabolic diseases (IMDs) are a group of more than 1 400 rares genetic diseases resulting from a genetic deficiency of an enzyme or transporter involved in metabolism. They most often begin in childhood. If left untreated, most of them result in significant morbidity and mortality. With advances in management, 90% of children survivent into adulthood. Within IMDs, the diet and energy metabolism disease groups require very specific dietary management and emergency management due to the risk of acute decompensation during fevers or other stresses. It is therefore essential that children and adolescents, accompanied by their families, follow an appropriate transition programme. In 2017, the G2m network published the first recommendations on transition, particularly for diet-dependent diseases. A transition booklet for young patients was developed based on this publication. Since 2019, the working group including several patient organisations has organised thematic days and meetings on transition and created a child-adult transition passport booklet. Lysosomal diseases have been the subject of recommendations based on a survey of patients, families and doctors with the aim of crea-aborting a specific transition programme called "TENALYS" (Transition ENfant Adulte dans les maladies LYSosomales). The members of the G2m network are involved in the d evelopment of other transition programmes: transition in Pompe disease as well as transversal transition programmes for rare diseases ("La Suite" at the Necker hospital and "JUMP" at the Pitié-Salpêtrière hospital). [ABSTRACT FROM AUTHOR]

Chronic fatigue is a non-specific symptom, frequent in outpatient adults' consultations. Persistent physical fatigue of unknown etiology should prompt the search for rare diseases including inherited metabolic disorder (IMD) after elimination of common causes. The main characteristic of chronic fatigue in IMD is its dynamic nature, worsened by circumstances leading to an increased metabolism such as physical exertion, cold, fasting or infection. IMD leading to chronic fatigue are metabolic myopathies, in particular glycogen storage disease affecting muscle, fatty acid oxidation disorders and mitochondrial diseases. The diagnosis is confirmed by specific biochemical and/or molecular analyzes with multidisciplinary management. [ABSTRACT FROM AUTHOR]

Many environmental and lifestyle elements have been identified as risk factors for female infertility. Among them, the association between overweight, obesity, metabolic disorders and infertility, notably by ovulation disorders, is widely demonstrated. There are arguments highlighting the importance of weight loss by diet and physical activity to improve ovulatory disorders and increase the chances of pregnancy. Although there is no formal evidence to conclude to an implication of a food or a group of food on fertility, more and more studies emphasize the importance of a varied and balanced diet, based on the Mediterranean diet. Micronutrient supplementation could be proposed in certain situations, and in particular in case of deficiencies. This supplementation should only be prescribed in addition to a balanced lifestyle and under medical supervision. [ABSTRACT FROM AUTHOR]

Many lifestyle and environmental factors can affect male's fertility by altering sperm parameters. Among these factors, weight, metabolic and nutritional status may be associated with male infertility. The mechanisms involved are multiple and complex. Hormonal dysfunction, chronic inflammation and oxidative stress are the best known. Men's lifestyle is important to consider in the infertility assessment since the consequences of obesity or metabolic disorders may be reversible. Thus, weight loss, balanced diet and physical activity can help improve male reproductive functions and achieve spontaneous pregnancies or improve ART results. [ABSTRACT FROM AUTHOR]

Antiretroviral drugs are responsible for side effects or undesirable effects. These may include redistribution of adipose tissue and disorders of the lipid or carbohydrate metabolism. Given the growing number of people living with HIV (PLHIV) on antiretroviral therapy, it is necessary to assess the frequency of disorders of carbohydrate and lipid metabolism in patients who are on antiretroviral therapy (ARV). Our analysis focused on 493 patients with HIV/AIDS and on ARV treated in the Medical Centre of the ONG Espoir Vie Togo, Lomé. Paraclinical data such as blood glucose, serum total cholesterol, triglycerides, HDL cholesterol and LDL cholesterol were studied. The study showed the following anomalies: hypercholesterolemia, LDL hypercholesterolemia, HDL-hypocholesterolemia were found in 41.4%, 23.5% and 17.4% of patients respectively. The incidence of hyperglycemia was 12.4%. It is important to note that the incidence of lipido carbohydrate disorders was higher in patients receiving treatment schedule including protease inhibitors. The study also highlighted that 31.2% of patients with disorders of carbohydrate and lipid metabolism were overweight or obese. The incidence of these disorders differs depending on whether patients were under triple therapy including protease inhibitors or not. [ABSTRACT FROM AUTHOR]

Résumé: Les myopathies sont une cause rare de perturbations du bilan hépatique. Il peut s'agir d'une élévation des transaminases d'origine musculaire à différentier d'une atteinte hépatique qu'il faut reconnaitre pour éviter les explorations inutiles. Les perturbations peuvent aussi s'inscrire dans un cadre plus large où les atteintes hépatiques et musculaires ne sont que les symptômes d'une maladie sous-jacente, comme c'est le cas des cytopathies mitochondriales ou des maladies métaboliques. L'hépato-gastroentérologue doit connaître ces affections pour évoquer le diagnostic devant un bilan de cytolyse inexpliquée et orienter le malade vers une prise en charge spécialisée. Myopathies are rare causes of abnormal liver function tests. Muscular cytolysis, responsible for increase of transaminases predominant on AST, has to be recognized to avoid unnecessary investigations. The abnormalities might also be related to broader spectrum of diseases associating liver and muscular injuries such mitochondrial cytopathy or some metabolic diseases. Therefore, the hepato-gastroenterologist should always consider these extra-hepatic diseases when facing the problem of unexplained raise of transaminases for accurate diagnosis and treatment. [ABSTRACT FROM AUTHOR]

De nombreux travaux ont associé le microbiote intestinal au développement de désordres métaboliques. Parmi les mécanismes potentiellement impliqués dans le dialogue bactéries-hôtes, le système endocannabinoïde (eCB) et ses lipides bioactifs jouent un rôle important. Nos travaux suggèrent l’existence d’un dialogue à double-sens entre l’organisme et les bactéries : le tissu adipeux contrôlerait la fonction barrière de l’intestin; et les bactéries de l’intestin seraient capables de contrôler le métabolisme du tissu adipeux.

Copyright of Phytothérapie is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Résumé: Le syndrome du déficit en GLUT-1 (Glucose transporter 1) est une maladie génétique rare, dans laquelle le transporteur spécifique du glucose à travers la barrière hémato-encéphalique est déficitaire. La maladie provoque divers symptômes qui peuvent varier considérablement d’un patient à un autre, caractérisée par une épilepsie résistante aux anticonvulsivants, une décélération de la croissance du périmètre crânien, un retard du développement psychomoteur, une ataxie, une dysarthrie et d’autres troubles neurologiques paroxystiques. Nous rapportons l’observation d’un nourrisson qui avait présenté des épisodes myocloniques survenant en période préprandiale, associés à un retard du développement. Le diagnostic avait été évoqué devant la mise en évidence d’une hypoglycorrachie avec glycémie normale. Il a été confirmé par une étude moléculaire. Une régression des symptômes a été notée dès l’instauration du régime cétogène. [ABSTRACT FROM AUTHOR]

Investigate the infracognitive dimension which contains obstacles or resources, in order to make learning easier in the field of metabolic chronic diseases.Methodology: Semi-directed interviews aiming at a better understanding of persons conceptions with the aid of sketches, schemes to fill, questionnaires. A total of 112 adults participated in the study: students, health care providers and patients. Results: Many obstacles to learning appear in the infra-cognitive : a majority of physiotherapist students don't realize that some nutrients are transported by blood. Only 3% of the 112 subjects know that a physical activity at low intensity is optimal in order to oxidize lipids, while 30% suggest a realistic value for the average amount of fat burning. Conclusion: Some infra-cognitive conceptions are related to basic anatomical and physiological knowledge, sometimes very basic scientific concepts. People don't master basic scientific knowledge, blocking the gain of more complex knowledge and related behavior changes. This scientific illiteracy can come unnoticed although it may represent an unavoidable obstacle to acquire knowledge and improving one's health [ABSTRACT FROM AUTHOR]

Résumé: Introduction: Le déficit acquis en zinc lié à un allaitement maternel exclusif est rare. Nous décrivons un cas survenu chez un nourrisson de 5 mois. Observation: Un garçon de 5 mois a été admis pour un érythème érosif du siège persistant depuis l’âge de 2 mois, associé à des lésions érythémato-squameuses péri-buccales et acrales. Sa zincémie était basse alors que la zincémie maternelle était normale mais le dosage du zinc dans le lait maternel était effondré. L’évolution a été rapidement favorable après une supplémentation orale en zinc qui a été arrêtée dès que la diversification alimentaire a été instituée. Commentaires: Le déficit acquis en zinc chez les nourrissons exclusivement nourris au sein est une affection rare liée à un défaut d’apport par le lait maternel. Le tableau clinique est superposable à celui de l’acrodermatite entéropathique. Le traitement repose sur la supplémentation orale en zinc jusqu’à la diversification alimentaire. [ABSTRACT FROM AUTHOR]

Résumé: Introduction: El-Menia, une oasis située au milieu du Sahara Algérien, est connue pour la faible teneur en sodium de son eau de boisson contrairement au reste du Sahara. Les objectifs de notre étude étaient d’estimer la prévalence de l’HTA dans cet oasis, d’étudier les facteurs associés et de décrire le profil métabolique de cette population. Méthodes: Une étude transversale auprès des ménages a été réalisée en 2010 sur un échantillon aléatoire de la population résidente avec un âge de 40 ans ou plus issu d’un sondage en grappe. La pression artérielle a été mesurée selon une méthode standardisée et les données cliniques ont été collectées sur un questionnaire. Des prélèvements sanguins ont été réalisés à la recherche de diabète et de dyslipidémies. Résultats: Un total de 722 sujets ont été enquêtés dont 67 % de femmes et 18 % de sujets de couleur noir. L’âge moyen était de 58,5±13,2 ans. La prévalence de l’HTA était de 50,2 % : 49,7 % chez les femmes et 51,3 % chez les hommes. La prévalence de l’HTA était indépendamment associée en analyse multivariée à l’âge, la couleur de la peau, le tour de taille et la glycémie. Parmi les hypertendus, 41 % prenaient un traitement antihypertenseur et 20 % des sujets traités étaient correctement contrôlés. Conclusion: Dans l’oasis, la prévalence de l’HTA était élevée et la fréquence des sujets correctement traités et contrôlés était faible. Des actions de formation à destination des praticiens et de la population sont nécessaires pour réduire l’incidence et améliorer la prise en charge des hypertendus. [ABSTRACT FROM AUTHOR]

Summary: Rhabdomyolysis is well known in adults and can be either traumatic (crush syndrome) or ischemic in origin. Hereditary, metabolic, or toxic causes have also been described. Renal failure is a potential complication of rhabdomyolysis and is associated with a poorer prognosis. Nevertheless, rhabdomyolysis can also occur in newborns following severe asphyxia or muscular lesions acquired during childbirth. Here, we report the case of a very premature and difficult caesarean delivery at 25 weeks and 3 days of gestation. At birth, large hematomas were apparent and urine myoglobin associated with hypercreatinemia were noted. Rhabdomyolysis was diagnosed and we corrected the metabolic disorders arising from altered renal function. However, after 18 months renal failure has persisted and become chronic. [Copyright &y& Elsevier]

Summary: Moderate hypothermia therapy (HT) after perinatal asphyxia of the newborn has clearly demonstrated its efficacy in reducing both mortality and long-term neurosensory sequelae. HT has now been introduced in many developed countries as a standard of care for term infants meeting the entry criteria for therapeutic cooling. However, this new therapy is only effective in case of an acute perinatal hypoxic-ischemic event. Since a number of potentially deleterious complications have been described during cooling, a strict evaluation of the newborn''s status is mandatory. To help clinicians reliably select newborns who may benefit from HT, amplitude-integrated electroencephalography (aEEG) is today strongly recommended. The indication criteria for cooling include aEEG in addition to delivery history, Apgar score, cord pH and lactates, and neurological scoring for encephalopathy. We report a clinical case of a term baby girl, considered for HT in our unit, because of a clinical feature of severe neonatal encephalopathy, metabolic acidosis on cord pH, and a history of fetal distress on fetal heart rate monitoring. However, despite all these criteria, her early aEEG, like her classic EEG, showed no signs of hypoxic-ischemic encephalopathy (HIE). She was then denied HT and her early magnetic resonance imaging (MRI) exam showed no signs of HIE but typical features of a metabolic disorder (Zellweger-like syndrome). Thanks to the HT strict protocols, including early aEEG and MRI exam, the right diagnosis was rapidly made and the hypothesis of a hypoxic-ischemic event during delivery was finally ruled out. [Copyright &y& Elsevier]

Abstract: Upper cervical spine is defined by atloido-occipital and atlas-axis joints, and C2-C3 intervertebral disk. Six synovial joints are involved mainly in cervical rotations. Inflammatory conditions including rheumatoid arthritis, metabolic disorders and osteoarthritis might be located at these sites. Plain radiographs are of major importance, mainly dynamic lateral views. These views allow detecting anterior C1-C2 subluxation. CT-scan and magnetic resonance imaging are useful to better characterization in specific settings. [Copyright &y& Elsevier]

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Résumé: La lithiase urinaire est plus rare chez l’enfant que chez l’adulte, mais son éventualité doit être évoquée devant des tableaux cliniques variés, associant généralement douleur et hématurie. Cependant, il peut aussi s’agir d’une découverte fortuite. La prise en charge initiale repose avant tout sur le traitement de la colique néphrétique lorsqu’elle existe, voire sur un geste endoscopique. La nature de la lithiase est reconnue à partir de l’analyse du calcul par spectrophotométrie infrarouge, par l’étude de la cristallurie et parfois par un bilan biochimique orienté. La responsabilité des tubulopathies et des maladies héréditaires métaboliques est prédominante chez l’enfant, mais il peut aussi s’agir de lithiases infectieuses, de lithiases associées à des anomalies de l’écoulement des urines, ou de lithiases d’origine médicamenteuse. Le traitement chirurgical a cédé le pas aux méthodes endoscopiques et à la lithotritie extracorporelle et chaque étiologie guidera un traitement médical spécifique. Toutefois, la prévention de la récidive repose toujours sur la dilution des urines par l’hydratation abondante. Le pronostic dépend de l’affection causale, et notamment de l’existence ou non d’une néphrocalcinose et des éventuelles atteintes extrarénales, mais aussi de l’adéquation du traitement et de l’observance qui lui est associée. [ABSTRACT FROM AUTHOR]

Abstract: Type 1 myotonic dystrophy is an autosomal dominant inherited disorder related to the expansion of a trinucleotide (CTG) repeat in the exon 15 in the 3′-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Mutant transcripts containing an expanded CUG repeat are retained in nuclear foci and cause numerous dysfunctions by interfering with biogenesis of other mRNAs. Prominent clinical features are progressive muscular weakness and myotonia, which affect skeletal muscles but also white muscles leading to digestive, urinary and obstetrical disorders. Functional prognosis correlates with motor handicap and vital prognosis is linked to cardiac rhythm disturbances and conduction defects due to progressive subendocardial fibrosis, and to complex respiratory dysfunctions, which associate restrictive lung disease, involvement of the central inspiratory pathway, and sleep apnea. Other clinical features are lens opacity, glucose intolerance, metabolic syndrome, several endocrine disorders (gonadal deficiency, hyperparathydoidism), or immunoglobulin deficiency due to immunoglobulin G hypercatabolism. Life expectancy is reduced in myotonic dystrophy, and death is mainly caused by respiratory complications, but also by cardiac arrhythmias. Moreover, an abnormal incidence of tumors has been reported. Therefore, myotonic dystrophy does not only concern neurologists but a multidisciplinary approach is necessary, including at least pneumologist, cardiologist, and physiotherapist. General internists should also be implicated, not only in the initial diagnosis step, but also in the diagnosis of complications and their treatments. [Copyright &y& Elsevier]

Summary: Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and the accumulation of a compound upstream from the deficient metabolite(s). Diseases of intoxication by proteins (aminoacidopathies, organic acidurias, urea cycle defects) and by sugars (galactosemia, fructosemia) usually do not give prenatal symptoms since mothers protect their fetuses from pathological metabolite accumulation. A well-known exception is hypoplasia of corpus callosum, as is sometimes observed in nonketotic hyperglycinemia and sulfite oxidase deficiency. Conversely, women with phenylketonuria “poison” their fetus if they are not treated (spontaneous abortions, intrauterine growth restriction [IUGR], cardiac malformations, and brain disease). Amino acid synthesis defects can lead to prenatal symptoms: microcephaly in serine deficiency (detectable by amino acid analysis in fetal cord blood), and brain malformations in glutamine synthetase deficiency. Impaired folate metabolism is involved in a large fraction of neurodevelopmental defects referred to as spina bifida, yet the underlying genetic component(s) are largely unknown. Energy metabolism diseases caused by defects in the synthesis or utilization of relevant metabolites lead to organ dysfunctions or malformations, but prenatal diagnosis is usually impossible unless genetic analysis can rely on a previously affected child in the family. A somewhat intermediate condition is defects of mitochondrial beta-oxidation of fatty acids, as they may sometimes be symptomatic prenatally (notably the HELLP syndrome or other presentations), and in this case, organic acid and acylcarnitine analysis in amniotic fluid can be informative in the absence of an index case. In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome. Although many metabolic disorders show biochemical abnormalities during fetal development that are informative for prenatal diagnosis, only a fraction of them are clinically/sonographically symptomatic before birth, thus allowing for prenatal diagnosis in the absence of an index case, i.e., serine deficiency, some fatty acid beta-oxidation defects, transaldolase deficiency, lysosomal diseases, CDG, Zellweger syndrome, and SLO syndrome. [Copyright &y& Elsevier]

Summary: Inborn metabolic diseases (IMDs) that can start in the neonatal period include various defects in numerous metabolic pathways. Such diseases are due to the genetic deficiency of an enzyme or a transporter. From a physiopathological point of view, the metabolic disorders can be divided into 3 diagnostically useful groups of diseases. The first group is due to the accumulation of endogenous toxic metabolites and includes inborn errors of amino acid metabolism, organic acidemias, urea cycle disorders, and sugar intolerances. The second one includes IMDs of intermediary metabolism causing a disturbance in energy production or utilization resulting from a defect in the liver, the muscles, the myocardium, or the brain (fatty acid oxidation defects, congenital lactic acidosis, etc.). The third group includes diseases that disturb the synthesis or the catabolism of complex molecules (lysosomal or peroxisomal disorders, etc.). IMDs are individually rare, but collectively numerous. Therefore, it is difficult to acquire extensive experience in the management of these diseases. However, the neonate has a limited repertoire of responses to severe illness and, at first, presents with nonspecific symptoms that could be easily attributed to infection or some other common cause. An IMD must be suspected in all situations of neonatal distress for which there is no apparent reason and that does not respond to symptomatic therapy. The priority is given to IMDs that are amenable to treatment, and emergency management has to be scheduled as soon as the diagnosis is suspected, even if the precise diagnosis is still unknown. In fact, emergency treatment must be undertaken in parallel with metabolic investigations, to prevent any delay in the management of the disease. The neonatologist must be able to recognize the neonatal distresses that suggest the possibility of an IMD. In such situations, an adequate diagnostic approach can be based on the proper use of only a few screening tests, which will also be useful to schedule adequate emergency treatment. [Copyright &y& Elsevier]

Copyright of Reanimation is the property of Lavoisier and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: The prevalence of obesity has been steadily increasing worldwide. In this context, we observe an increase in obesity surgery (or bariatric surgery). This type of surgery leads to complications related to the intervention in an obese patient, but also specific nutritional complications. The three major types of bariatric surgery are as follows: restrictive procedures; restrictive malabsorptive procedures and both. The metabolic changes associated with obesity can be further exacerbated by illness. Main aims of nutritionnal assistance are limiting the process of protein malnutrition and hypercatabolism. This surgery has the feature to apply to obese patients with a perioperative risk, to initiate severe metabolic changes and induce deficiencies in vitamins and trace elements. The nutritional management is a challenge for multidisciplinary teams responsible for these patients. [Copyright &y& Elsevier]

Abstract: Jejunostoma and ileostoma can cause significant mechanical, nutritional and metabolic complications, and can have psychological, social and professional impacts. Early follow-up from the preoperative phase, technical and psychological long-term supports are essential to a good patient''s adaptation and quality of life. Complications must be known and prevented. This requires the mobilization of a multidisciplinary team including surgeons, stoma nurses, dieticians and nutritionists. [Copyright &y& Elsevier]

Summary: Introduction: Madelung's disease, also known as Multiple Symmetric Lipomatosis (MSL) or the Launois-Bensaude syndrome, is characterized by subcutaneous lipid deposits, which, unlike lipomas, are nonencapsulated. The disease is diagnosed mainly in Mediterranean countries, and 90% of all cases involve male alcoholics. These masses are usually found on the neck, chest, abdomen, and arms. The symptoms are the result of acute sensorimotor axonal neuropathy caused by compression. Treatment (surgical and/or medical) does not produce significant or lasting results. Case report: We describe the case of a 57-year old male alcoholic (daily ethanol intake: approximately 2 L of wine), who has been treated and followed by our staff for 6 years. Discussion and conclusions: As this case illustrates, management of MSL is often associated with serious difficulties related to the patient's alcoholism. The effects of adipose tissue masses on the sensitive and motor nervous system are complicated by the effects of alcoholic neuropathy, requiring complex long-term monitoring. Treatment is often compromised by poor compliance related to patient's drinking problems. Madelung's disease is currently regarded as a rare disease, although we suspect that the incidence in Italy (and in the rest of the world) has probably been underestimated for various reasons. [Copyright &y& Elsevier]

Copyright of Revue Francophone des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: The increasing prevalence of obesity among elderly people has led to the definition of the concept of sarcopenic obesity. This concept is defined as the potential to combine muscle metabolic changes associated with both aging and obesity. Several definitions have been proposed, but the absence of a consensus led to great variability in the prevalence of this phenomenon in literature. However, the proportion of the older obese population is not negligible, representing 5 to 15% of elderly people. The study of metabolic abnormalities associated with sarcopenic obesity is of importance, since these subjects are at increased risk of developing functional disability. However, very few studies evaluated the mechanisms involved in the cumulating and aggravating effect of obesity in the elderly, particularly at muscle level. Of note, significant alterations of muscle protein anabolism were observed in elderly people but also in obese subjects. Impairment in muscle protein metabolism, including protein synthesis rate, could be involved in the loss of functional capacity during sarcopenic obesity. [Copyright &y& Elsevier]

Abstract: Reference centers and competence centers are a group of multidisciplinary skilled hospital related to specific diseases, mainly rare diseases. Their mission and goals are to facilitate the diagnosis and to define protocols for therapeutic management. In addition to this role of expertise, the reference center has a mission to appeal. The reference center should organize epidemiological survey and structure the clinical and basic research. Eleven reference centers and three competence centers have been approved for inherited metabolic diseases in France. [Copyright &y& Elsevier]

Abstract: Hypophosphatasia is a rare inborn metabolic disorder, characterized by a genetic defect in the gene (ALPL) coding the tissue-nonspecific alkaline phosphatase (TNSALP). Defective bone mineralization and dental anomalies are the main features of the disease. The clinical expression is highly variable, ranging from lethal type to less severe bone and joint disorders. According to age, different forms have been described: perinatal (respiratory complications, in most case very severe and lethal), infantile (rickets, vitamin-B6 dependant seizures), juvenile (dental lesions, short stature, bone deformations, waddling gait), adult hypophosphatasia (history of rickets, pseudo-fractures, delayed consolidation of fractures, pyrophosphate arthropathy) as well as odonto-hypophosphatasia. Different radiographic anomalies may be observed at different stages of the diseases; rachitic changes, bone deformations, functional cranisosynostosis in children; in adults radiographs may show stress fractures, sometimes complete fractures with poor healing, chondrocalcinosis with calcium pyrophosphate crystal deposition. The diagnosis is based on laboratory findings: marked reduction of serum alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and inorganic pyrophosphates, increased serum pyridoxal-5’-phosphate. Histologically, mineralization of osteoid bone tissue is defective. Genomic DNA sequencing can detect mutations of ALPL gene in 95% of cases; more than 200 mutations have been described (http://www.sesep.uvsq.fr/03_hypo_mutations.php). The mode of inheritance is variable and it complicates the genetic counselling; hypophosphatasia may be inherited in an autosomal dominant or autosomal recessive manner. There is no established treatment of hypophosphatasia. Vitamin D supplementation may induce hypercalcemia and hypercalciuria. Vitamin B6 supplementation is given in children suffering from epilepsy and NSAID may be useful to treat bone inflammatory lesions. Encouraging results have been observed in patients given daily subcutaneous parathyroid hormone or teriparatide. Very promising results have recently been obtained by enzyme replacement therapy for severe infantile forms of the disease. [Copyright &y& Elsevier]

Abstract: Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by a deficiency of specific lysosomal enzymes. The ubiquitous nature of GAG within the connective tissue of the body results in a wide range of clinical effects. The suspicion of MPS disorder must be raised on musculoskeletal complications: evolving joint pain and joint contractures in the absence of inflammation; growth failure; radiographic abnormalities designated dysostosis multiplex associated with low bone mineral density. Glycogen storage diseases (GSD) are inherited disorders that affect glycogen metabolism. The glycogen found in these disorders is abnormal in quantity, quality or both. GSD that mainly affect the liver usually have hepatomegaly and hypoglycemia as the presenting features. The predominant clinical features of GSD that mainly affect the muscle are muscle cramps, exercise intolerance, susceptibility to fatigue, and progressive weakness. Other musculoskeletal manifestations are growth failure (GSD I, III, VI, VII, IX), hyperuricemia and gout (GSD I, III, V and VII) and osteoporosis (GSD I, II, III). [Copyright &y& Elsevier]

Abstract: Authors describe biological, tissular and clinical aspects of the three disease''s stages: alkaptonuria, ochronosis and ochronotic arthropathy. For ochronotic arthropathy, which appears around the fourth decade of life, they portray clinical and radiological findings valuable to establish diagnosis by the rheumatologist. They list clinical and paraclinical examinations to perform. Evolution, complications mainly of renal and cardiac systems and treatment options are also reviewed. Alkaptonuria (AKU) or “black urine disease”, is a rare autosomal recessive inborn error of metabolism concerning the hepatic catabolism of aromatic aminoacid, l-phenylalanine and l-tyrosine. AKU results in lack of activity of the enzyme, homogentisate 1,2-dioxygenase (HGD) in the liver, which leads to storage of homogentisic acid (HGA), a colorless diphenolic acid. Hepatic HGA diffuses into blood, flood all connective tissues of organism, then is excreted by urines. In urines, HGA oxidizes to form benzoquinone acetate (BQA), and then form brown-black melanin-like pigments polymers, hence the name of alcaptone. This is the first stage of the disease, evidenced since birth. The same steps occur in tissues but more slowly than in urines, with deposition of pigments in connective tissues leading to visible ochronosis, mainly in ear and sclera. This is the second disease''s stage occurring during the third decade of life. [Copyright &y& Elsevier]

Abstract: In the early 1980s, ulcerative colitis (UC) was considered to be a consequence of butyrate oxidation deficiency in the colonic mucosa, and so, a metabolic disease. The short-chain fatty acid butyrate, which is mainly produced in the lumen of the large intestine by the fermentation of dietary fibers, is the preferred energy source for the colonocyte and plays a major role in the physiology of the colonic mucosa. Recent data indicate that the butyrate oxidation deficiency is a consequence of its reduced intracellular availability, due to the inflammation-related down-regulation of the monocarboxylate transporter MCT1. MCT1 expression levels, so butyrate oxidation, are inversely correlated to the intensity of inflammation. The loss of MCT1 expression could explain the lack of efficacy of butyrate enemas in severe UC. This could also lead to the inhibition of butyrate regulatory effects on cell proliferation / apoptosis balance and favour inflammatory bowel diseases-associated colorectal carcinogenesis. [Copyright &y& Elsevier]

Abstract: Adipose tissue is abundant and well known for its involvement in obesity and associated metabolic disorders. Its uses in regenerative medicine recently attracted many investigators, as large amounts of this tissue can be easily obtained using liposuction and it contains several populations of immature cells. The largest pool of such cells corresponds to immature stromal cells, called adipose-derived stromal cells (ADSCs). These cells are purified after proteolytic digestion of adipose tissue and selection by an adherent step. ADSCs display many common features with mesenchymal stem cells derived from bone marrow, including paracrine activity, but with some specific features, among which a greater angiogenic potential. This potential is now investigating at clinical level to treat critical ischemic hindlimb by autologous cells. Other potentials are also investigated and the treatment of fistula associated or not with Crohn''s disease is reaching now phase III level. [Copyright &y& Elsevier]

Abstract: Obstetric litigation is a growing problem in developed countries and its escalating cost together with increasing medical insurance premiums is a major concern for maternity service providers, leading to obstetric practice cessation by many practitioners. Fifty-four to 74 % of claims are based on cardiotocographic (CTG) abnormalities and their interpretation followed by inappropriate or delayed reactions. A critical analysis is performed about the nine criteria identified by the American College of Obstetricians and Gynecologists and the American Academy of Pediatrics in their task force on Neonatal Encephalopathy and Cerebral Palsy: four essential criteria defining neonatal asphyxia and five other suggesting an acute intrapartum event sufficient to cause cerebral palsy in term newborns. The importance of placental histologic examination is emphasized in order to confirm sudden catastrophic events occurring before or during labor or to detect occult thrombotic processes affecting the fetal circulation, patterns of decreased placenta reserve and adaptative responses to chronic hypoxia. It may also exclude intrapartum hypoxia by revealing some histologic patterns typical of acute chorioamnionitis and fetal inflammatory response or compatible with metabolic diseases. Magnetic resonance imaging (MRI) of the infant''s damaged brain is very contributive to elucidate the mechanism and timing of asphyxia in conjunction with the clinical picture, by locating cerebral injuries predominantly in white or grey matter. Intrapartum asphyxia is sometimes preventable by delivering weak fetuses by cesarean sections before birth, by avoiding some “sentinel” events, and essentially by responding appropriately to CTG anomalies and performing an efficient neonatal resuscitation. During litigation procedures, it is necessary to have access to a readable CTG, a well-documented partogram, a complete analysis of umbilical cord gases, a placental pathology and an extensive clinical work-up of the newborn infant including cerebral MRI. Malpractice litigation in obstetric care can be reduced by permanent CTG education, respect of national CTG guidelines, use of adjuncts such as fetal blood sampling for pH or lactates, regular review of adverse events in Clinical Risk Management (CRM) groups and periodic audits about low arterial cord pH in newborns, admission to neonatal unit, the need for assisted ventilation and the decision-to-delivery interval for emergency operative deliveries. Considering the fast occurrence of fetal cerebral hypoxic injuries, and thus despite an adequate management, many intrapartum asphyxias will not be preventable. Conversely, well-documented hypoxic-ischemic brain insults during the antenatal period do not automatically exclude intrapartum suboptimal obstetric care. [Copyright &y& Elsevier]

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Summary: Galactosemia and congenital Rogers syndrome or thiamine-responsive megaloblastic anemia are 2 rare inherited metabolic diseases. The combination of the 2 diseases has never been reported in the literature. We describe the case of an infant followed for congenital galactosemia since the age of 8 days, with thiamine-responsive megaloblastic anemia diagnosed at the age of 10 months. Galactosemia''s symptoms occur in the first 2 weeks of life with severe liver disease. Total eviction of the galactose allows complete regression and prevention of early symptoms but does not prevent late complications. Rogers syndrome associates megaloblastic anemia, deafness, and diabetes mellitus that begin in childhood. Supplementation with thiamine allows regression of anemia and prevents the onset of diabetes at least until adolescence. [Copyright &y& Elsevier]

Copyright of Revue Francophone des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: Mitochondrial diseases (MD) are the most frequent metabolic disorders. They have in common a respiratory chain deficiency. Clinical presentation of MD is very heterogeneous and the major physiological functions may be affected. Diagnosis is complex due to the potential involvement of two genomes (nuclear or mitochondrial DNA), the large number of candidate genes to screen and the small number of patients reported for each type of MD. Clinical presentation, trait of inheritance, cerebral imaging (MRI and CT-Scan) and specialized biochemical investigations are good indicators, but identification of causing mutation(s) is the clue to confirm diagnosis. Task is huge and progress in diagnosis of MD should come from genotype-phenotype correlations studies and from major technical improvements in molecular diagnosis. Exhaustive study of mitochondrial DNA is the first necessary step that is now possible with methods like Surveyor and Affymetrix resequencing chip. Combination of data including clinical informations, cerebral imaging, respiratory chain deficiency and/or assembly profile of respiratory chain complexes (BN-PAGE profile) may contribute for orientation for nuclear DNA studies. Elucidation of the genetic bases of MD is important for patients: identification of causing mutation(s) allows offering genetic counselling and possibility of prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Summary: Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal intussusception in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation. [Copyright &y& Elsevier]

Abstract: Acute skin toxicity is frequent during radiation therapy and can lead to temporary arrest of the treatment. Chronic toxicity can occur and conduct to cosmetic problems. Alopecia is the most frequent toxicity concerning hair and is most of the time reversible. Several factors linked to patients influence skin toxicity, such as undernutrition, old age, obesity, smoking, skin diseases, autoimmune diseases, failure of DNA reparation. Skin, hair and nail toxicities depend also on radiation schedule. Acute toxicity is greater when dose per fraction increases. Chronic and acute toxicities are more often when total dose increases. Under 45Gy, the risk of severe skin toxicity is low, and begins above 50Gy. Skin toxicity depends also on the duration of radiotherapy and split course schedules are associated with less toxicities. Irradiation surface seems to influence skin toxicity but interaction is more complex. Reirradiation is often feasible in case of cancer recurrence but with a risk of grade 3–4 toxicity above all in head and neck cancer. The benefit/risk ratio has to be always precisely evaluated. Permanent alopecia is correlated with the follicle dose. Modern techniques of radiation therapy allow to spare skin. [ABSTRACT FROM AUTHOR]

Summary: During the last years, obesity and subsequent metabolic disorders and cardiovascular diseases have tremendously increased. Recent studies have shown that risk factors of cardiovascular diseases appear as soon as in infancy. In many situations, these disorders are programmed in early life during fetal development. These observations have lead to the concept of programming. The first studies on this subject underlined the link between poor fetal growth and the risk of nutritional and metabolic disorders during adulthood. But, it is now evident that excess of fetal growth as it is observed during pregnancy with maternal diabetes leads to the same consequences. The metabolic syndrome or syndrome X is the name for a clustering of risk factors for cardiovascular diseases and type II diabetes that are of metabolic origin. This syndrome, first described in the adults, is more and more studied during childhood and adolescence. Metabolic syndrome is now described in youth, particularly in subjects with risk factors as obesity. Alterations of intra-uterine environment lead to modified early development and represent short-term adaptations transmitted from one generation to another. This intergeneration effect contributes to the burden of adult metabolic disorders and cardiovascular diseases, as seen in the last decades. There is considerable evidence for the contribution of epigenetic mechanisms for the lifelong and the intergenerational alteration of gene transcription by variation in the early life environment. One of the major challenges in the following years is to promote public health programs which are aimed at prevention of long-term consequences of fetal programming. [Copyright &y& Elsevier]

Abstract: Despite being recognised as a psychiatric disease, pathomimia is often encountered in the professional life of physicians. It is a factitious disorder with important diagnostic stakes: first, it needs to be diagnosed quickly because physical damage can be horrendous; furthermore, this concept is a mix of many entities (mythomania, self-mutilation, hypochondria, conversion, simulation, psychosis…) which complicate differential diagnosis. Through two clinical cases, we will go through the different clinical aspects of pathomimia, then we will cover the diagnostical approach and finally we will conclude on psychopathological thoughts about these observations. [Copyright &y& Elsevier]

Abstract: Malnutrition is frequent in elderly patients and results from multifactorial mechanisms, including age-related metabolic alterations, reduction of food intake and intercurrent diseases, especially inflammatory processes, that compromise nutritional status. Nutritional evaluation must be systematically and repeatedly performed and based primarily on clinical parameters such as weight, body mass index, weight loss, anthropometric measurements and dietetic history eventually combined in scores such as the mini-nutritional assessment (MNA). Fat-free mass evaluated by bioimpedance analysis has a prognostic value. Hypoalbuminemia is indicative of bad prognosis and may be combined with weight loss in the geriatric nutritional risk index (GNRI) to assess the nutritional risk. The determination of plasma transthyretin (prealbumin) is especially useful to assess acute malnutrition state and the response to nutritional support. Routine determination of the above criteria may be facilitated by the spreading of simple integrated tools and a better education of health professionals to the screening and active treatment of malnutrition in the elderly. [Copyright &y& Elsevier]

Abstract: Introduction: The clinical consequences of plasmatic magnesium variations are underecognized in clinical practice. The dosage of plasmatic magnesium is underused and not reliable. Moreover, hypomagnesemia is often associated with other metabolic disorders (hypocalcemia, hypokaliemia), which are responsible for several symptoms. Case report: We report an 85-year-old man who presented with repeated bronchospasm, confusion, and abdominal and muscular pain, attributed to low magnesium serum level. We then review pathophysiology, various etiologies, clinical features, diagnostic challenge and treatement of low magnesium serum level. Conclusion: Hypomagnesemia is poorly known and diagnosed. Therapeutic issues have not been clearly defined. [Copyright &y& Elsevier]

Abstract: Introduction: “Atypical” antipsychotics tend to replace traditional antipsychotics as first line therapy for psychotic disorders, due to their better side-effect profile with fewer extrapyramidal manifestations, allowing a better observance. Nevertheless, second-generation antipsychotics may also lead to adverse events such as metabolic disorders, agranulocytosis or muscle damage. Cases of rhabdomyolysis (aside neuroleptic malignant syndrome) have been reported in patients receiving olanzapine (Zyprexa®). Methods: We reviewed the cases of olanzapine induced rhabdomyolysis reported to the French national database of drug adverse events and retrieved additional cases published in the medical literature. Results: We collected 13 cases from the French pharmacovigilance database and eight additional cases from the literature. Seventeen patients needed hospitalization. Creatine kinase (CK) rate ranged between 413 and 34,500 UI/L. Outcome was favorable in 85% of the cases (17 out of 20 cases) after discontinuation of olanzapine. Conclusion: Although rhabdomyolysis is a rare side effect (< 1%) of olanzapine, this adverse event should be evoked when a patient with olanzapine presents with muscle pain, unexplained fatigue or weakness. Prompt dosage of CK should be performed. However, it remains uncertain whether a mild and asymptomatic muscle enzyme increase without any metabolic disorder requires the discontinuation of olanzapine therapy. [Copyright &y& Elsevier]

Malnutrition, a frequent complication of malignancies, is related to an imbalance between mildly increased calorific needs and frequently decreased intake (upper digestive tract obstruction, anorexia, etc.). Anorexia and cachexia pathophysiologies are better known. They are mainly related to a significant production of pro-inflammatory cytokines and sometimes directly related to tumoral messengers stimulating proteolysis and lipolysis. All these pathophysiological mechanisms are as many potential therapeutic targets currently under study. Targeted anti-cancer treatment associated with early targeted treatment of cancer cachexia could be the most effective way of preventing or limiting cancer-related malnutrition. [ABSTRACT FROM AUTHOR]