Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity

Alkali ocular burns in Martinique (French West Indies): evaluation of the use of an amphoteric solution as the rinsing product

Abstract Precis: During the 4 years of this study, we noted 66 cases of alkali ocular burns, or approximately 16 cases per year, nearly half (45.5%) of which are due to an assault. For grade 1 and 2 burns the time elapsed to reepithelialization appears to be shorter when rinsed with Diphoterine* versus physiological solution. Purpose: Comparison of the effectiveness of two rinsing solutions for emergency use: a physiological solution and an amphoteric solution (Diphoterine*, Laboratories Prevor, Valmondois, France). Description of the clinical and progressive characteristics of alkali burns treated at the University Hospital Center of Fort de France in Martinique (French West Indies). Design: Prospective consecutive observational case series and nonrandomized comparative study. Participants: Sixty-six patients were included. The total number of burned eyes is 104. Forty-eight eyes (46%) were rinsed with physiological solution and 56 eyes (54%) with Diphoterine*. Methods: All patients benefited from an ocular rinse with 500 ml of physiological solution or Diphoterine*, followed by a complete ophthalmologic exam. The ocular injuries were classified according to the Roper-Hall modification of the Hughes classification system. The same standardized therapeutic protocol was applied and adapted to the seriousness of the burn. Main outcome measures: Demographic data, time to corneal reepithelialization, final best corrected visual acuity and complications were analysed. Results: Twenty-eight (42.4%) patients have a unilateral burn and 38 (57.6%) patients have bilateral burns. In decreasing order of frequency, the circumstances surrounding the injury are: assaults in 45.5% of cases (n = 30), work-related accidents in 32% of cases (n = 31), and domestic accidents in 23% of cases (n = 15). For grade 1 and 2 burns the time elapsed to reepithelialization appears to be shorter when rinsed with Diphoterine* versus physiological solution (respectively): 1.9 AE 1 days versus 11.1 AE 1.4 days (p = 10 À7 ) and 5.6 AE 4.9 days versus 10 AE 9.2 days (p = 0.02). For grade 3 and 4 burns, there are complications in 11 cases (11.6%): 8 corneal opacities and 3 perforations. Conclusions: This study is the first conducted in humans that takes into account the type of ocular rinse product used in the progressive follow-up study of injuries. The time elapsed to reepithelialization is shorter with Diphoterine* for grade 1 and 2 burns. There are not enough cases of grade 3 and 4 burns to make a conclusion. Diphoterine* seems very effective in terms of its mechanism of action and the experimental and clinical results

Whispering to the Deaf: Communication by a Frog without External Vocal Sac or Tympanum in Noisy Environments

Atelopus franciscus is a diurnal bufonid frog that lives in South-American tropical rain forests. As in many other frogs, males produce calls to defend their territories and attract females. However, this species is a so-called “earless” frog lacking an external tympanum and is thus anatomically deaf. Moreover, A. franciscus has no external vocal sac and lives in a sound constraining environment along river banks where it competes with other calling frogs. Despite these constraints, male A. franciscus reply acoustically to the calls of conspecifics in the field. To resolve this apparent paradox, we studied the vocal apparatus and middle-ear, analysed signal content of the calls, examined sound and signal content propagation in its natural habitat, and performed playback experiments. We show that A. franciscus males can produce only low intensity calls that propagate a short distance (<8 m) as a result of the lack of an external vocal sac. The species-specific coding of the signal is based on the pulse duration, providing a simple coding that is efficient as it allows discrimination from calls of sympatric frogs. Moreover, the signal is redundant and consequently adapted to noisy environments. As such a coding system can be efficient only at short-range, territory holders established themselves at short distances from each other. Finally, we show that the middle-ear of A. franciscus does not present any particular adaptations to compensate for the lack of an external tympanum, suggesting the existence of extra-tympanic pathways for sound propagation

Expansion of Regulatory T Cells in Patients with Langerhans Cell Histiocytosis

Frederic Geissmann and colleagues find that Langerhans cell accumulation in Langerhans cell histiocytosis results from survival rather than uncontrolled proliferation, and is associated with the expansion of regulatory T cells

D3 — Etudes histologiques

The histological study of the samples taken from the mummy was carried out using optical and electron microscopy (T.E.M. and S.E.M.). For conventional histological study the use of paraffin-wax provides poor results owing to poor inclusion by this means and poor staining affinity. So, an original inclusion technique was developed which gives much better results. It was possible to identify the contents of the canopic packages with certainty for some of them : heart, skin, lungs and most probably the others contained the intestine and liver. In the lungs we found an inflammatory process which may be connected in some way with the death of the patient. The structure of the bones was normal and very well preserved. We were also able to observe the collagen in many tissues with the transmission electron microscope. In scanning electron microscopy we saw numerous larvae and hairs of anthrens in all parts of the thorax and abdomen as well as in the canopic packages replaced in the body after treatment. We emphasize the usefulness of S.E.M. for the identification of structures in these dry tissues, be they human or animal.L'étude histologique des prélèvements effectués sur la momie a été effectuée en microscopie optique et en microscopie électronique (à transmission et à balayage). Pour la microscopie optique, les inclusions en paraffine donnent des résultats décevants à cause d'une mauvaise imprégnation des spécimens et de faibles affinités tinctoriales. Aussi a-t-on mis au point une méthode originale d'inclusion en résine qui donne des résultats de bien meilleure qualité. Par cette méthode on a pu ainsi identifier le contenu des paquets canopes, avec certitude pour certains : cœur, peau, poumon, avec une forte présomption pour d'autres : intestin et foie. Au niveau du poumon, on a retrouvé des lésions inflammatoires peut-être en rapport avec la cause du décès. Les fragments osseux montrent une structure remarquablement bien conservée sans lésions notables. Les études en microscopie électronique à transmission ont montré la conservation de nombreuses formations ultrastructurales, notamment du collagène. La microscopie électronique à balayage a permis d'effectuer d'importantes observations concernant en particulier la présence d'exuvies de larves d'anthrènes et de leurs soies, réparties dans toute la cavité thoraco-abdominale et à l'intérieur de certains paquets canopes. On retiendra l'intérêt de la microscopie électronique à balayage pour l'identification des structures tissulaires et des parasites.Josset Patrice. D3 — Etudes histologiques. In: Nouvelles archives du Muséum d'histoire naturelle de Lyon, tome 25, 1987. pp. 47-52

A 1842 skull from Dupuytren’s museum of Paris: an original artifact of Joseph Gensoul first maxillectomy technique

International audienceJoseph Gensoul was a pioneer of ENT surgery. In 1827, he performed the first total maxillectomy on 17-year-old boy. His work inspired many surgeons, who were previously unwilling to remove maxillary tumours. A paleopathological study performed in the Dupuytren museum allowed us to identify a skull from the early 19th century, with a large maxillar tumour. There were indications that this skull was operated according to Gensoul's technique. The aim of this study is to confirm that this patient had, in fact, received this surgical treatment. This is a historical and descriptive paleopathological study of a skull of the early 19th century of Dupuytren Museum in Paris. The historical research was conducted in collaboration with the French Academy of Medicine and the Museum of Medicine History (Paris). Bones mark cut studies allowed us to confirm that the patient was operated according to the method described by Gensoul in his "Surgical letter" in 1833. Our historical research has allowed us to understand the perspectives of surgeons in the 19th century and the intellectual processes that led to this discovery. At a time when the robotization and industrialization dominate our art, it is interesting to look to our past, our origins, and our history. The study of ancient humans remains and allows us to understand the origin of our specialty and pay tribute to these pioneering surgeons. Their intellectual approach and boldness should be acknowledged and applauded, especially as it is also the key to our success

Enzymatic and Pro-Inflammatory Activities of Bothrops lanceolatus Venom: Relevance for Envenomation

Bothrops lanceolatus, commonly named ‘Fer-de-Lance’, is an endemic snake of the French Caribbean Island of Martinique. Envenomations by B. lanceolatus present clinical aspects characterized by systemic thrombotic syndrome and important local inflammation, involving edema and pain but limited hemorrhage. To investigate mechanisms of venom-induced inflammation, B. lanceolatus venom was characterized, its cross-reactivity with bothropic antivenom explored, its cytotoxicity on human keratinocytes and vascular cells, and the production of cytokines and chemokines were analyzed. We used electrophoretic separation, zymography, colorimetric or fluorimetric enzymatic assays, and immunochemical assays. Therapeutic South American bothropic antivenom cross-reacted with B. lanceolatus venom and completely or partially abolished its PLA2, hyaluronidase, and proteolytic activities, as well as its cytotoxicity for keratinocytes. The substrate specificity of B. lanceolatus venom proteases was emphasized. B. lanceolatus venom cytotoxicity was compared to the B. jararaca venom. Both venoms were highly cytotoxic for keratinocytes (HaCaT), whereas B. lanceolatus venom showed particularly low toxicity for endothelial cells (EAhy926). Patterns of cytokine and chemokine production by cells exposed to the venoms were highly pro-inflammatory. Thus, the results presented here show that B. lanceolatus venom toxins share important antigenic similarities with South American Bothrops species toxins, although their proteases have acquired particular substrate specificity. Moreover, the venom displays important cytotoxic and pro-inflammatory action on human cell types such as keratinocytes and endothelial cells, which are important players in the local and systemic compartments affected by the envenomation

Paysages et patrimoines

Étudier le lien entre patrimoine et paysage permet de considérer l’importance de participer collectivement à la production d’un patrimoine vivant. Dans certains cas, le paysage est assimilé à un patrimoine à conserver, un espace à protéger. Quels sont les pratiques et les usages, c’est à dire les économies, qui fabriquent le paysage ? L’objectif de cet ouvrage est d’analyser sous l’angle original du croisement entre patrimoines et paysages, les enjeux liés à leur connaissance, leur protection et leur valorisation à l’échelle locale