Déficit en ornithine-carbamyl-transférase chez l’adulte

Introduction

Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults.

Case reports

A 23-year-old woman presented with vomiting, somnolence, confusion and hyperammonemia. Familial history revealed OTC deficiency in three brothers and one sister, but urinary orotic acid level was normal at birth in the reported patient who therefore was considered as mutation-free. The mother was asymptomatic but had cognitive defect and moderate mental deficiency. Molecular biology demonstrated that both our patient and her mother were heterozygous for complete OCT deletion.

Conclusion

OCT deficiency could be diagnosed in adult patients at any age and clinical features are various, including hyperammonemic encephalopathy, psychiatric disorders or mental deficiency.     

Cystathionine betasynthase and MTHFR deficiencies in adults

INTRODUCTION: Homocysteine lies at an important metabolic branch point; it may be either converted to cystathionine through the transsulfuration pathway, or methylated to form methionine. Hyperhomocysteinemia may result from hereditary defects affecting one of these reactions. STATE OF ART: Cystathionine beta synthase or 5,10-methylenetetrahydrofolate deficiency can both result in homocystinuria. Current knowledge about biochemical mechanisms leading to hyperhomocysteinemia, clinical and radiological features, pathogenesis and treatment are reviewed, focusing on late onset forms of these diseases which can be diagnosed in adulthood. CBS deficiency is characterized by lens dislocation, skeletal abnormalities, neurologic disturbances and thromboembolism. MTHFR deficiency leads to various neurological symptoms, ranging from developmental delay to encephalopathy, including motor and gait abnormalities, seizures, psychiatric manifestations and rarely strokes. The treatment of CBS deficiency depends on vitamin B6, whereas MTHFR deficiency can be efficiently treated by vitamin B12, folic acid, and betaine. PERSPECTIVES: Homocysteinemia should be measured in patients with unexplained neurological manifestations or thromboembolism.     

La perfusion intraosseuse chez l’adulte

Intraosseous infusion is an old knowledge, abandoned in the 1950s in favor of the peripheral vein, and it was essentially described in pediatrics and military medicine. Since 2005, this way is experiencing a resurgence of interest in emergency medicine particularly in adults after the failure's installation of a peripheral vein in order not to waste the time of care and administration of treatment. New devices that allow intraosseous infusion are currently used in humans. We propose to review the different kind of catheters used, to know the main technical characteristics, indications, contraindications and potential complications. We propose a comparison with the peripheral vein and a comparison between the different catheters.     

Use of the Airtraq by inexperienced physicians supervised during a series of tracheal intubation in adult patient with anticipated difficult airway

Introduction

The Airtraq^® optical laryngoscope (Vygon, Écouen, France) is a new intubation device designed to provide a view of the glottis without alignment of the oral, pharyngeal and laryngeal axes. In recent literature, the efficiency of the Airtraq^® even in difficult intubation and its short learning curve were characterized. The goal of our study is to evaluate Airtraq™ efficiency when use by inexperienced physicians in anticipated difficult intubation adult patients.

Methods

The patients showing at least one of the four difficult intubation predictors (history of difficult intubation, thyromental distance less than 60 mm, mouth opening less than 35 mm and Mallampati class 3 or 4 were included. Before induction of anaesthesia, the inexperienced physicians participating the study received a short oral formation on the use of the Airtraq^®. For each intubation manoeuvres, the participant were supervised by an expert in Airtraq^® handling. The Cormack and Lehane grade of direct laryngoscopy view, the duration times to best glottis view and to intubate the trachea, the success or failure of tracheal intubation, the drop in arterial oxygen saturation of below 95%, the need for external manipulation, and the difficulties met by the operators were noted.

Results

Twenty patients were included over a month period. Thirteen had a history of difficult intubation, eight a thyromental distance less than 60 mm, nine a mouth opening less than 35 mm and 12 patients were classified as Mallampati IV. The success rate of tracheal intubation with the Airtraq^® laryngoscope was 80%. Times to best glottis view and to complete tracheal intubation were 28 and 47 s, respectively. Four tracheal intubation failures were encountered. The LMA Fastrach^® and the flexible fiberoscope were used respectively in one and three patients.

Discussion

In the majority of the cases, the insertion of the Airtraq^®, the visualization of the glottis and the subsequent intubation were easy and rapid, without arterial oxygen desaturation. However, the four tracheal intubation failures associated with prolonged tracheal intubation times in some patients highlight the fact that the Airtraq^® laryngoscope requires a clinical training process particularly in case of anticipated difficult airway management situations.     

Adult parameningial alveolar rhabdomyosarcoma: Case report and literature review

Alveolar rhabdomyosarcoma (ARMS) represents the most common childhood soft tissue sarcoma, but they are rarely seen among adults. Most of the protocols for adults are adapted from pediatric protocols. Here we report a case of a 53-year-old woman diagnosed with a nasal alveolar rhabdomyosarcoma, stage IV at diagnosis, treated by chemotherapy (a regimen inspired from the pediatric protocole pEpSSG RMS 2005) which led to partial response followed by chemo-radiotherapy. We performed a systematic review of adult head and neck ARMS and found 29 cases. Primary chemotherapy with different protocols (VAC, VAI or VIE) should be done followed by surgery and/or external beam radiotherapy (preferably with IMRT). EBRT seems beneficial to every ARMS with a dose around 50 Gy in a conventional fractionation, eventually completed with a boost on residual tumor. The target volume must be defined on pre-chemotherapy imaging. Brachytherapy and proton therapy are under evaluation.     

Adult recurrent pilocytic astrocytoma: Clinical,histopathological and molecular study

BackgroundPA is a grade I glial tumor that mostly occurs in children. However, although apparently similar to paediatric PA, adult PA presents a different clinical follow-up that could arise from specific molecular alterations. A variety of genetic alterations have been identified as diagnostic or prognostic glioma molecular markers.Material and methodsWe describe a right infratentorial tumor that occurred in a 58-year-old man. Neuroimaging and neuropathological examination suggested PA as an initial diagnosis. The tumor was completely resected. Unexpectedly, two years later, a rapidly growing tumor on the operative site was observed with a second location in the pineal region. Immunohistochemical reactions (IHC), Multiplex ligation probe amplification (MLPA) and fluorescence in situ hybridization (FISH) was performed in both primary and relapse tumor.ResultsNeuroimaging and neuropathological examinations suggested an unusual diagnosis for adult patients: a recurrent PA. Both MLPA and FISH analysis contribute to diagnostic confirmation by KIAA1549: BRAF fusion detection. Additional genetic results revealed interesting findings that justified the tumor aggressivity.ConclusionMolecular analysis of adult PA cases should be routinely combined with histopathological and neuroimaging examination to further refine prognostic diagnoses.     

Accessibilité de la remédiation cognitive en Île-de-France,en psychiatrie adulte et infanto-juvénile,et dispositifs de réhabilitation

Cognitive remediation (CR) aims to decrease cognitive deficits and provide palliative strategies for reintegration of patients with psychic disability. It is part of a personalized care program and requires multidisciplinary assessment and management, including eventually other psychosocial therapies. This study, carried out in 2016, aims to establish an inventory of accessibility and practice of the CR in Île-de-France, to promote broad access and systematize the integration of CR in a global and coherent course. The CR is proposed by nearly 58 % of the structures that answered the survey, but its implementation could be improved: it stands for 58 % in a specific project and the multidisciplinary evaluation before/after is carried out at 51 % in Adult Psychiatry and 20 % in Child and Teen Psychiatry (CTP), perhaps due to a lack of qualified staff (neuropsychologists). The programs used in CTP are nonspecific. The accommodation capacity should be increased by group programs. Despite a lack of knowledge to fill, there is an important interest for the CR with a will expressed by 12 structures to be trained. Other psychosocial therapies, although better known, would benefit from being more often proposed and labeled by the Regional Health Agency. Our results confirm a scarcity of psychiatric care's supply in 77, 91 and 93. Four rehabilitation units in the 77 and 3 in the 91 are being trained. Three structures in the 77 and 2 in the 91 are willing to get trained. Supporting them is all the more important as the good practice of CR has a direct effect on social costs’ benefits. Since then, in the entire region, 8 structures have proposed for a CR and rehabilitation platform.     

Approche qualitative de l’éprouvé au Jardin de Soins. Une étude exploratoire en Psychiatrie de l’Adulte

In Adult Psychiatry, the Healing Garden seems today an innovative therapeutic mediation aimed likely take part in the recovery of severe patients. The therapeutic effect would depend on several bound mechanisms, in keeping with our fundamental relation with the natural environment and socio-relational purposes supported by a nonintrusive support of low complexity. Formal scientific clinical studies began in psychiatry in reactive disorders. We want to consolidate the clinical impressions accumulated in practice care in the suffering hospitalized adult of a severe pathology, through a pilot study of a qualitative type using the content analysis of interviews in a short form. The method consists of exploring elements of their comments through a feedback of personal experiences within a small group of patients to identify recurring and shared issues. Then, a structural synthesis of central elements of described experience aims at understanding the patient unique experience meanwhile and perceive the meaning for them. We began the investigation with 7 patients. The clinical evaluation was based on a semi structured interview lasting 20–30 minutes with the help of an interview guide collecting experience. The personal experience of the patient once re-written has been analyzed. The first step of qualitative data confirms the assumption of a device of care supporting the process of recovery, the benefit in a reduction of perception of symptoms of the disease, the impression to get back on their feet, the interest of a differently perceived relation with caregivers, the advantage of a resumption of the power to act, and the recognition of the importance of the support from others. Therefore patients state a re-start of their physical or psychic energy. It can be understood with the support of the group as well as the direct effects of the vegetal, or more, with discovering new possibilities to enable them to rebound back into daily life. Then, they can describe that whenever the caregiver goes to the same level as the patient in charge, and that he agrees to be taught and surprised by what the other knows, he restores on a making-together method a failing self-esteem. This feeling of self-efficiency, highlighted by human interaction with a newly renamed caregiver, enables people to get past feeling stigmatized even if this feeling is unfortunately deeply buried in the person. If the feeling of worthlessness and impossibility to change give way to a slightest action, a dynamic settles down. It enables the patient to get aware that it can act and influence on its environment, like the others. As a result, the feeling of inadequacy decreases and even the slightest result enable to recover self-confidence thanks to a positive environment. It doesn’t take much for them to realize they can act and widen their experience to other areas of their lives. The feeling of the ability to act by themselves comes back. Finally the relationship with others seems a key element in the Healing Garden. It can be shared between peers, between caregivers and patients, between the relationships of these people with the rest of society. The matter is the acceptance of its own abilities even if they are diminished. This perspective cannot be separated from the above mentioned elements: The achievement is team work and overtake individual boundaries. It allows the patient. It is the feedback of society over creation and work performed. The feeling of self-efficiency created by the pride they can feel is reward and may lead to other achievement. To conclude, we propose to consider the thematic emergence of the experience of the concept of vitality as spring action in the real in front of others as echo in a psychopathologic tradition dedicated to the existential comprehension of disorders. The implementation of a healing garden in the psychiatric fields comes as a response of our survey and sustains the patients differently. The originality is in that patients acquire resources from the environment, in a dynamic recovery. So we suggest offering this mediation as soon as possible to curb the spread of their illness. We would like to see this pilot survey taking part in structuring relevant dimensions and new researches.