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Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
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This is an Open Access Journal

Open Access journal
ISSN (Online) 1828-6550
Published by Accademia Peloritana dei Pericolanti

[1 journal]

About a Century of teaching Physiology at the Messina Veterinary Medicine
Degree Course
- Authors: Adriana Ferlazzo
  Abstract: Since the foundation of the Veterinary Schools, dating back to the early 19th century, the teachings of Anatomy and Physiology were taught by a single lecturer and, by the end of the 19th century, only the Faculties of Milan and Naples had established the teaching of Veterinary Physiology as an autonomous discipline and field of research. Furthermore, the Law no. 1147 of July 25, 1922 also established that the teaching of Physiology to veterinary physicians should be taught by the Chair of Human Physiology of Medicine and Surgery (at least in those Universities where the two Medicines coexisted).
  PubDate: Wed, 17 Jul 2024 00:00:00 +020
Familial idiopathic short stature and beyond: a case-report of a novel
heterozygous NPR2 mutation.
- Authors: Ylenia Giorgianni; Cecilia Lugarà, Francesca Franchina, Mariella Valenzise, Giorgia Pepe, Tommaso Aversa
  Abstract: Background: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS. Case report: A 9-years-old boy was referred to our Outpatient Clinic of Pediatric Endocrinology for short stature. Analysis of growth chart revealed severe short stature since early childhood. At first evaluation he presented with a stature of 117.3 cm (-3.20 SDS), below the target height (-2.68 SDS), with normal body proportions and delayed bone age. Some dysmorphic features (small and stubby hands, slightly prominent frontal bosses) were observed. Laboratory investigations ruled out the main causes of short stature. A growth hormone (GH) stimulation test was performed, showing elevated GH levels at baseline (9.781 ng/ml) with low insulin-like growth factor-1 (IGF-1) levels (61.98 ng/ml). GH receptor resistance was therefore excluded. Genetic analysis highlighted a novel heterozygous mutation in the NPR2 gene (c.938del; c.953G>A), inherited from the mother. Conclusion: Our case-report highlights that ISS represents a diagnosis of exclusion, that can only be formulated after a detailed diagnostic evaluation. The identification of a genetic aetiology in many ISS patients may contribute to better characterize the diagnosis, with potential implications in terms of growth outcome and response to treatment, allowing tailored management besides familial genetic counselling.
  PubDate: Wed, 17 Jul 2024 00:00:00 +020
The importance of early diagnosis of X-linked hypophosphatemic rickets: a
case report
- Authors: Francesca Franchina; Fabio Toscano, Giovanni Luppino, Giorgia Pepe, Tommaso Aversa, Domenico Corica
  Abstract: X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. XLH is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, leading to chronic renal phosphate excretion and impairment of vitamin D activation. Children with XLH show clinical signs of rickets, short stature, stunted growth, deformities of the lower limbs, bone and muscular pain, weakness and reduced quality of life. XLH is a multisystem disease that requires a multidisciplinary approach, as patients may experience hearing loss, progressive bone deformities, recurrent dental and periodontal lesions. Burosumab, a fully human IgG1 monoclonal antibody to FGF23, represents the emerging gold standard treatment for XLH, whose effect appears to be significantly better clinically, biochemically and radiographically than conventional therapy. Early initiation of specific therapy improves the bone outcome of these individuals. This report describes an emblematic case of an 11-year-old girl with lower limb varus and short stature in whom the diagnosis of XLH was made late. This case highlights the importance of including the evaluation and correct interpretation of calcium-phosphorus metabolism in the diagnostic work-up of short stature, with the aim of diagnosing cases of XLH at an early stage, initiating the most appropriate therapy, and avoiding surgical treatment if possible.
  PubDate: Wed, 03 Jul 2024 00:00:00 +020
The challenge of pituitary hyperplasia differential diagnosis in a young
girl with growth arrest
- Authors: Aurora Lanzafame; Tiziana Abbate, Giuseppina Zirilli, Flavia Caime, Domenico Corica, Malgorzata Wasniewska
  Abstract: Growth arrest is an alarming condition which requires precise and tempestive investigations in order to provide accurate diagnosis. Long-standing primary hypothyroidism (PHT) may rarely occur as a growth arrest as the only clinical sign at onset in children. The most common cause of PHT in children and adolescents is represented by Hashimoto’s thyroiditis (HT), an autoimmune disease which frequently presents clinically with goitre. Rarely, HT may present as an atrophic variant without goitre, which may delay the diagnosis of PHT. Long-standing PHT is an unusual cause of pituitary hyperplasia (PH) and it has to be differentiated from severe conditions, including neoplasms. Loss of thyroxine feedback determines overproduction of thyrotropin releasing hormone, thyrotropin (TSH)-releasing cells hyperplasia and a consequent pituitary enlargement. Levothyroxine replacement therapy usually determines regression of PH. This report describes a case of an 11-year-old girl suffering from PHT and secondary PH due to autoimmune atrophic thyroiditis whose only onset symptom was growth arrest.
  Thyroid hormone evaluation should be included in the first step of evaluations in patients with growth arrest even in the absence of clear clinical signs suggestive of thyroid disfunction. In patients with pituitary enlargement, thyroid function tests are important to recognize PH secondary to PHT and to avoid unnecessary surgery.
  PubDate: Mon, 01 Jul 2024 00:00:00 +020
The relevance of auditory perception and the effects of music on horses
- Authors: Adriana Ferlazzo; Esterina Fazio, Pietro Medica
  Abstract: Recent acquisitions on perceptive, behavioural and cognitive features of horses are reported. The effects of perceptive and cognitive abilities on horse-human interactions are reviewed. The role and relevance of auditory perception in horses is underlined. The effects of music on different animal species are revised, and a special emphasis on the effects of music on horse welfare and sport performance is devoted.
  PubDate: Mon, 18 Mar 2024 16:59:38 +010
Fundamentals of muscle training of the horse: New paradigms for sports
medicine specialists
- Authors: José Luis López Rivero
  Abstract: As the main purpose of training is to modulate the muscular physiology according to the functional demands of each sporting discipline, it seems reasonable that those who in practice direct the training of the horse should know the fundamentals of these adaptations. Thus, it is very important to be clear that today's horse has developed innately and through selective breeding over generations outstanding muscular qualities within the animal kingdom, which are difficult to improve in practice. Thanks to studies carried out over the last 3-4 decades we now have certainty about the muscular changes we can expect in response to certain types of training methods and how these adaptations improve athletic performance. Of practical interest are the muscle genomics studies conducted in the last decade, which allow us to examine candidate genes for targeted selection and early prediction of performance, and to objectively monitor the practical training of these super-athletes. With all this, the equine sports medicine veterinarian now has an arsenal of scientific knowledge and state-of-the-art techniques to compete for the practical training of equine athletes, which is no longer largely empirical, as is unfortunately still the case today
  PubDate: Mon, 18 Mar 2024 16:59:38 +010
Famous physicians from Messina
- Authors: Giuseppe Magazzù
  Abstract: The aims of this article are i) to present the characteristics of famous, historical people in the field of Medicine who followed one another at the University of Messina; ii) identification of their peculiarities which allowed them to make scientific discoveries which have remained in the history of Medicine and Science; iii) reflection on the ability of some people to grasp aspects other than merely scientific ones from observation.
  PubDate: Mon, 18 Mar 2024 16:59:38 +010

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