Lecture presented at the Meeting “Gaetano Martino, Medico e Statista Liberale”, January 20, 2025 University of Messina. The purpose of this lecture is to delineate the cultural heritage bequeathed to our Institution by Gaetano Martino. This undertaking is inherently challenging due to the multifaceted nature of Martino's contributions, including scientific and governance activities within our university. His contributions encompass numerous effective personal contributions in the domains of research, teaching, direction and development, that this lecture aims to summarise. It is vital to emphasise the potential significance of these contributions, if received positively, in determining and maintaining the role and position of the University within the national and international contexts of Science and Culture.
Background: Mediastinal masses and pleural effusions may have different etiologies, from infectious to malignant and autoimmune diseases, originating from the mediastinum or nearby structures. Several signs and symptoms, such as persistent anemia, dyspnea, chronic itching, and mantle oedema, may raise suspicion of a malignant disease. Specifically, lymphomas may be a common cause of both mediastinal masses and pleural effusions. Case presentation: We report the cases of two children, aged 9 and 13, who were admitted to the Pediatric Unit of AOU “Gaetano Martino” in Messina with pleural effusion and superior vena cava syndrome, respectively. Both had a previous history of SARS-CoV-2 infection a few months prior. Clinical, laboratory and radiological findings suggested the presence of a mediastinal mass, compatible with lymphoma. Conclusions: Tumors are a rare clinical entity in pediatric age. These cases highlight the importance of an accurate diagnostic workup and the critical role of identifying red flags. Nowadays, precision medicine plays a fundamental role as it uses the knowledge of genetic and biochemical profiles of a disease to tailor diagnosis and therapy for pediatric patients with tumors.
Abstracts of Oral Communications presented at the Memorial by representatives of Italian Postgraduate Schools in Morbid Anatom.
Galactosemia is an inborn error of galactose metabolism, characterized by the failure to metabolize galactose correctly due to enzyme deficiencies. Type I or classic galactosemia is the most severe form of galactosemia. The diagnosis is made by metabolic screening. Symptoms manifest from the first days of life and include feeding difficulties, vomiting, hypoglycemia, jaundice, and sepsis with E. coli. Long-term treatment consists of a strict galactose-free diet. However, patients may still develop endocrine complications, such as hypergonadotropic hypogonadism in females. We report the case of a 9.5-year-old girl with classic galactosemia who was diagnosed with hypergonadotropic hypogonadism at an early age. The clinical follow-up until the start of puberty induction therapy is described. We highlight the importance of a timely diagnosis of hypogonadism to avoid a delay in the timing of puberty induction, which could lead to the potential complications.
Type 2 diabetes (T2D) is a chronic condition caused by insulin resistance and relative insulin deficiency, leading to disrupted glucose homeostasis. Several genetic, behavioral, and socio-economic factors have been recognized as predisposing factors. The incidence of T2D in the pediatric population is increasing, paralleling the rise in obesity rates among youths. Early diagnosis and initiation of therapy are crucial to preventing or delaying long-term complications. We present the case of a 13-year-old Caucasian boy who presented with respiratory distress and altered consciousness, preceded by fever, cough, polyuria, and polydipsia. Blood gas analysis revealed metabolic acidosis (pH 7.1, Na 129.4 mmol/l, K 3.81 mmol/l, HCO3- 3.4 mmol/l, BE -23.65 mmol/l), ketonemia (4.8 mmol/l), and hyperglycemia (541 mg/dl), consistent with diabetic ketoacidosis. Further investigations, prompted by persistent respiratory distress and increased inflammatory markers, led to the diagnosis of complicated pneumonia. Based on clinical signs of insulin resistance (such as acanthosis nigricans), obesity (BMI 25.6 kg/m2), family history of T2D (father), and after excluding type 1 diabetes, monogenic, and other forms of diabetes, a diagnosis of T2D was eventually established. Following resolution of diabetic ketoacidosis, therapy with metformin was started, with prompt achievement of satisfactory glucose control. This case underscores the possible association between infections, accelerated metabolic decompensation, and severe diabetic ketoacidosis in individuals predisposed to T2D.
Background: Sleep is an essential component of psychophysical well-being. Both insufficient duration and inadequate quality of sleep may increase the risk of diabetes mellitus, cardiovascular events and mortality. The relationship between short sleep duration and glucose disorders appears to be bidirectional. However, the link between duration, quality of sleep and new markers of insulin resistance (IR) in obesity is still unclear. Aim: To evaluate sleep duration and quality in a group of overweight/obese subjects and their association with metabolic variables and IR markers. Materials and methods: Anthropometric parameters, glycemic profile, biomarkers of IR were evaluated in adult patients with BMI 27 kg/m2 without severe OSA (Obstructive Sleep Apnea Syndrome). Sleep duration and quality were assessed using the PSQI (Pittsburgh Sleep Quality Index) questionnaire. IR was estimated using HOMA-IR, TyG index (Triglycerides-Glucose Index) and Tg/HDL ratio (triglycerides/HDL-cholesterol). Results: The 84 subjects included in the analysis (BMI 36.14 kg/m2, waist circumference 110.42 cm) had a mean age of 54,65 years. The mean values of HOMA-IR (4.99±3.88), Tg/HDL (2.8±1.42) and TyG (4.74±0.25) were suggestive of a condition of insulin resistance. Nearly half of the patients (45%) had severe obesity and 84% had diabetes or IFG/IGT. The overall quality (total PSQI 7.63) and duration of sleep (5.76 hours) were not satisfactory and 59.5% of the patients had a total PSQI score 5, indicative of altered sleep quality. When patients were divided according to the sleep quality, subjects with PSQI 5 (poor sleep quality) had higher values of BMI, waist circumference, and waist-to-height ratio, as compared to those with PSQI ≤5. Markers of IR, glycemic and lipid profile were similar in the two groups. Mean PSQI score and the percentage of subjects with poor sleep quality were significantly higher in patients with class II/III obesity, compared to those with BMI35 Kg/m2 (9.38 vs 6.02 respectively, p0.001 and 77% vs 43% p 0.04). Conclusions: In this group of overweight/obese patients without severe OSA, we did not observe any association of sleep quality and duration with markers of IR. Sleep duration and quality were inadequate, especially in subjects with more severe degrees of obesity, suggesting an inverse relationship between sleep quality and visceral obesity.
An anomaly radiologically detected at a first line examination- if not properly contextualized - may lead to erroneous diagnostic hypotheses and subsequent therapeutic interventions. Hydronephrosis could be sometime misdiagnosed with a diffuse cystic involvement of one kidney causing parenchymal enlargement with a normal contralateral kidney. We report here a case of a 55 -year- old man with suboptimally controlled arterial hypertension and progressive increase of creatinine serum levels, who initially received a diagnostic suspicion of unilateral polycystic kidney disease. After an accurate differential diagnosis, our findings were consistent with a unilateral hydronephrosis caused by stenosis of ureteropelvic juncture due to an aberrant renal artery. Patient has undergone successfully robotic surgery, with progressive clinical and laboratory improvement.
Plant kingdom provides a wide plethora of remedies which can be exploited to treat prevent and manage human ailments, among which cancer. In these regards, there is consistent supporting evidence of the beneficial properties of Citrus fruits, which are consumed worldwide. Among these, pharmacological effects of Citrus bergamia Risso (bergamot) have been extensively demonstrated, including anticancer ones, which are due to its elevated flavonoid content. Recently, the flavonoid-rich extract of bergamot juice (BJe) its main flavanones have been investigated for their anti-leukemic activity in THP-1 cells, a model of acute myeloid leukaemia (AML). Specifically, it was shown that BJe and its main flavanones were able to hamper viability of leukemic cells, along with blocking cell cycle in triggering apoptosis. Noteworthy, it has been suggested that in AML there is an over-expression of SIRT2, an enzyme belonging to the family of sirtuins. Interestingly, it has been shown that BJe and its main flavanones can inhibit the deacetylase activity of SIRT2 in the isolated enzyme and in THP-1 cells, where they also reduced its gene expression. Moreover, docking simulations clarified that the main flavanones, namely naringenin and hesperetin, were able to interact with the catalytic core of SIRT2 in a similar manner as the synthetic inhibitor SirReal2. These results support the anti-leukemic potentiality of BJe, along with its main flavanones, highlighting that SIRT2 is involved in these effects.
Canine Leishmaniasis is a multisystemic zoonotic vector-borne disease, incurable and potentially fatal, transmitted to humans and dogs by the bite of female sandflies, representing a major public health problem in the Eastern Mediterranean Region (EMR) of the World Health Organization (WHO). In the medical-diagnostic field, trained sniffer dogs have demonstrated significant potential as a non-invasive, efficient, and cost-effective screening approach for the early detection of diseases like cancer, malaria, periprosthetic joint infections or COVID-19, as well as diabetic alert service (DADs). his paper presents a pilot study dealing with canine olfactory detection of Leishmania infection in dogs and its relevance to the topic of animal and public health. The pilot testing conducted in view of the development and execution of a larger-scale trial suggests that a broader study is likely to be successful and could produce valuable results in terms of using dogs’ exceptional olfactory abilities as a rapid, efficient and reliable diagnostic tool for sniffing out infectious diseases, with specific focus on the detection of canine Leishmaniasis
The study of reproductive physiology in relation to advancing age is of great interest and involves many species, evaluating the mare as a potential model to study follicular and oocyte maturation in the woman. As in women, the mare has a comparable timing with the events associated with follicular and oocyte maturation, having a long follicular phase, a large follicle size, and the timing between human chorionic gonadotrophin (hCG) o equine chorionic gonadotrophin (eCG) administration and ovulation nearly superimposable. Follicular dynamism is characterised by three functional moments whose endocrine mechanisms dictate their physiological sequence of events: Recruitment, selection and dominance. Aging had caused profound functional alterations at the ovarian level, counaltered luteal phase, LH and progesterone, reduced follicular phase, compensated by increased FSH and E2, increased cycle duration and inter-ovulatory intervals, intermittent ovulations, and increased pool of growing primordial follicles, resulting in accelerated depletion of ovarian reserve. This significant sequence of functional and neuroendocrine effects are the expression of impending reproductive senescence or menopause, respectively, in the mare and the woman in whom the reproductive life turns out to be twice as long as the mare. Aging thus represents a dissociation between oocyte maturation and ovulation, causes a decline in the quality of oocytes. Older mares had lower androgen pattern than younger, showing that age induces reduction in androgens' synthesis in physiologically cyclic Spanish Purebred mares. In humans’ experimental animals’ and mares’over 16 years, components of the somatotropic axis, such as growth hormone (GH) and insulin-like growth factor 1 (IGF-1) concentrations, decrease with advancing age. Advanced age leads to a predominance of sympathetic nervous activity and lower serotonergic and dopaminergic activity in non-pregnant mares. The pivotal interaction between serotonin (5-HT) and calcium shift in aging pregnant and cyclic mares was recorded, with lower 5-HT, total calcium and ionized calcium in the oldest mares. Aging appears to reduce the secretory tone of 5-HT, with a concurrent large shift in calcium metabolism in pregnant mares. In woman and in animal models, as the mare, estrogens are involved in iron (Fe) homeostasis, supporting the hypothesis of the existence of an “estrogen-iron axis”, with advancing aging. The correlation between thyroid hormones (TH) and ovarian pool was recorded. Ovulation representing a controlled inflammatory process is also mediated by the intervention of glucorticoids, especially cortisol. The ovary is the target tissue for glucocorticoids in many species, including women and mares, but it does not synthesize cortisol de novo.The use of in vivo rather than in vitro models, with a positive impact on unique human, animal and environmental health, is a desirable application for future research in this field.
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).
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.
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.953GA), 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.
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.
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
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.
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.
We present the case of a 69-year-old immunocompromised man admitted to our Pulmonology Unit for acute respiratory failure secondary to pulmonary mucormycosis infiltrating and occluding the left main bronchus and pulmonary artery. The patient was treated with liposomal amphotericin B, but developed severe hypokalaemia and anaemia. Despite the treatment, after 63 days, the patient died for cardiorespiratory arrest.
We report a case of a 40-day-old patient admitted to the neonatal and paediatric intensive care unit for severe cardiovascular failure with an initial sinus rhythm. The first diagnostic hypothesis was septic shock, thus antibiotics, fluid resuscitation, inotropic drugs and ventilatory supportwere immediately started. After achieving haemodynamic stability, a new cardiovascular failure occurred with supraventricular tachycardia (SVT), making diagnosis of cardiogenic shock. Cardiogenic shock should be considered, although it is a rare cause of shock in children. SVT may be a cause of cardiogenic shock, therefore it should be diagnosed whit the aid of a cardiorespiratory monitor, which represents a useful device in the differential diagnosis of the various types of shock.
Kawasaki disease (KD) is a vasculitis of the middle and little caliber arteries that specifically affects the coronary arteries. It represents the main cause of acquired cardiopathy in the pediatric population of western countries and in 25% of cases it leads to coronary artery aneurism (1). Atypical KD is nowadays considered a challenge for pediatrics, due to all of its possible clinical manifestations: it is characterized by a long-lasting fever (5 or more days) associated with some of the typical signs and symptoms and other unusual clinical manifestations (as neurological, nephrological, respiratory, gastrointestinal, rheumatological manifestations), variably associated with coronary arteries aneurism. Early diagnosis and treatment are essential to reduce the risk of coronary artery aneurysms (2,3). We report the case of a 5-year-old boy who came to our attention for skin rash, abdominal pain, increased liver enzymes, and hydrops of the gallbladder. He presented a fever for less than 5 days. 2 weeks later, the appearance of peeling on the fingers and the toes confirmed the diagnosis of an atypical, incomplete KD.
