At the root of the early penguin neck: a study of the only two cervicodorsal spines recovered from the Eocene of Antarctica

The spinal column of early Antarctic penguins is poorly known, mainly due to the scarcity of articulated vertebrae in the fossil record. One of the most interesting segments of this part of the skeleton is the transitional series located at the root of the neck. Here, two such cervicodorsal series, comprising reinterpreted known material and a new specimen from the Eocene of Seymour Island (Antarctic Peninsula), were investigated and contrasted with those of modern penguins and some fossil bones. The new specimen is smaller than the counterpart elements in recent king penguins, whereas the second series belonged to a large-bodied penguin from the genus Palaeeudyptes. It had been assigned by earlier researchers to P. gunnari (a species of “giant” penguins) and a Bayesian analysis—a Bayes factor approach based on size of an associated tarsometatarsus—strongly supported such an assignment. Morphological and functional studies revealed that mobility within the aforementioned segment probably did not differ substantially between extant and studied fossil penguins. There were, however, intriguing morphological differences between the smaller fossil specimen and the comparative material related to the condition of the lateral excavation in the first cervicodorsal vertebra and the extremely small size of the intervertebral foramen located just prior to the first “true” thoracic vertebra. The former feature could have resulted from discrepancy in severity of external pneumatization. Both fossils provided valuable insights into the morphology and functioning of the axial skeleton in early penguins

International Consensus on the Use of Genetics in the Management of Hereditary Angioedema

Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from HAE has become diagnostically indispensable in clinical practice. The synthesis and interpretation of the clinical and biochemical analyses to facilitate appropriate genetic test selection has thus also become significantly more complex. With this in mind, an international multidisciplinary group of 14 experts in HAE genetics and disease management was convened in October 2018. The objective was to develop clear, actionable, evidence- and consensus-based statements aiming to facilitate the communication between physicians treating patients with HAE and clinical geneticists, and thus promote the effective use of genetics in the management of the disease. Eleven consensus statements were generated, encompassing considerations regarding the clinical indications for genotyping patients with angioedema, the methods of detection of HAE-causative variants, the variant pathogenicity curation, the genotyping of patients with HAE in the clinic, and genetic counseling. These statements are intended both to guide clinicians and to serve as a framework for future educational and further genetic testing developments as the field continues to evolve rapidly. © 2019 American Academy of Allergy, Asthma & Immunolog

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Background: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1-INH-HAE. Methods: During an expert panel meeting that took place during the 9th C1 Inhibitor Deficiency Workshop in Budapest, 2015 (www.haenet.hu), pediatric data were presented and discussed and a consensus was developed by voting. Results: The symptoms of C1-INH-HAE often present in childhood. Differential diagnosis can be difficult as abdominal pain is common in pediatric C1-INH-HAE, but also commonly occurs in the general pediatric population. The early onset of symptoms may predict a more severe subsequent course of the disease. Before the age of 1 year, C1-INH levels may be lower than in adults; therefore, it is advisable to confirm the diagnosis after the age of one year. All neonates/infants with an affected C1-INH-HAE family member should be screened for C1-INH deficiency. Pediatric patients should always carry a C1-INH-HAE information card and medicine for emergency use. The regulatory approval status of the drugs for prophylaxis and for acute treatment is different in each country. Plasma-derived C1-INH, recombinant C1-INH, and ecallantide are the only agents licensed for the acute treatment of pediatric patients. Clinical trials are underway with additional drugs. It is recommended to follow up patients in an HAE comprehensive care center. Conclusions: The pediatric-focused international consensus for the diagnosis and management of C1-INH-HAE patients was created. © 2016 The Authors. Allergy Published by John Wiley & Sons Ltd