An Atypical Presentation of Primary Hyperparathyroidism in an Adolescent: A Case Report of Hypercalcaemia and Neuropsychiatric Symptoms Due to a Mediastinal Parathyroid Adenoma

Psychiatric disorders are rare clinical manifestations of hypercalcaemia in the pediatric population, are relatively more frequent during adolescence and are often overlooked in cases of severe hypercalcaemia. We described the case of a 17-year-old girl affected by anorexia nervosa, depression and self-harm with incidental detection of moderate hypercalcaemia. Clinical, laboratory and instrumental tests demonstrated that hypercalcaemia was secondary to primary hyperparathyroidism (PHPT) due to a mediastinal parathyroid adenoma in the thymic parenchyma. After parathyroidectomy with robot-assisted surgery, we observed the restoration of calcium and PTH levels in addition to an improvement in psychiatric symptoms. This case demonstrates that serum calcium concentration should be evaluated in adolescents with neurobehavioural symptoms and in cases of hypercalcaemia PHPT should be excluded. Surgery represents the cornerstone of the management of PHPT and may contribute to improving quality of life and psychological function in these patients. However, the complexity of neurological involvement in cases of hypercalcaemia due to PHPT requires further investigations to establish the real impact of this condition on the neurocognitive sphere

Innate immune activating ligand SUMOylation affects tumor cell recognition by NK cells

Natural Killer cells are innate lymphocytes involved in tumor immunosurveillance. They express activating receptors able to recognize self-molecules poorly expressed on healthy cells but up-regulated upon stress conditions, including transformation. Regulation of ligand expression in tumor cells mainly relays on transcriptional mechanisms, while the involvement of ubiquitin or ubiquitin-like modifiers remains largely unexplored. Here, we focused on the SUMO pathway and demonstrated that the ligand of DNAM1 activating receptor, PVR, undergoes SUMOylation in multiple myeloma. Concurrently, we found that PVR is preferentially located in intracellular compartments in human multiple myeloma cell lines and malignant plasma cells and that inhibition of the SUMO pathway promotes its translocation to the cell surface, increasing tumor cell susceptibility to NK cell-mediated cytolysis. Our findings provide the first evidence of an innate immune activating ligand regulated by SUMOylation, and confer to this modification a novel role in impairing recognition and killing of tumor cells.Natural Killer cells are innate lymphocytes involved in tumor immunosurveillance. They express activating receptors able to recognize self-molecules poorly expressed on healthy cells but up-regulated upon stress conditions, including transformation. Regulation of ligand expression in tumor cells mainly relays on transcriptional mechanisms, while the involvement of ubiquitin or ubiquitin-like modifiers remains largely unexplored. Here, we focused on the SUMO pathway and demonstrated that the ligand of DNAM1 activating receptor, PVR, undergoes SUMOylation in multiple myeloma. Concurrently, we found that PVR is preferentially located in intracellular compartments in human multiple myeloma cell lines and malignant plasma cells and that inhibition of the SUMO pathway promotes its translocation to the cell surface, increasing tumor cell susceptibility to NK cell-mediated cytolysis. Our findings provide the first evidence of an innate immune activating ligand regulated by SUMOylation, and confer to this modification a novel role in impairing recognition and killing of tumor cells

An unusual dysphagia for solids in a 17-year-old girl due to a lusoria artery: A case report and review of the literature

Background: Dysphagia is a condition that can have many underlying causes, often different between adults and children and its early diagnosis is crucial especially during childhood and adolescence, given the importance of proper nutritional intake to ensure adequate growth and development. Case report: We described the case of a 17-year-old girl reporting dysphagia for solids for approximately one month. No symptoms were previously referred. Oesophagogastroduodenoscopy was performed, detecting an image of ab extrinseco compression at the level of the mid-cervical oesophagus. An upper gastrointestinal tract radiography confirmed an oesophageal impression above the arch of the aorta suggestive of vascular abnormality. Computed tomography angiography and three-dimensional reconstruction techniques showed the presence of a lusoria artery that originated from the medial margin of the descending aorta and crossed the trachea and oesophagus posteriorly to the distal third. The lusoria artery was transected via a left thoracotomy and re-implanted into the right common carotid artery with complete symptom resolution. Conclusions: Dysphagia lusoria is an impairment of swallowing due to compression from an aberrant right subclavian artery. The diagnosis is always difficult, as the symptoms are often nonspecific. It is imperative to accurately identify and properly manage dysphagia in pediatric age and this is only possible with an anamnestic, clinical and instrumental process that takes into account an adequate differential diagnosis

Assessing molecular diversity among 87 species of the Quercus L. genus by RAPD markers

Oaks (Quercus sp.) are among the most ecologically and economically important woody Angiosperms of the northern hemisphere. Nowadays, the reduction of Quercus biodiversity is becoming a matter of global concern, and several oak species have been included in the IUCN Red List of Threatened Species. Consequently, characterization and preservation strategies for the oak germplasm are largely promoted. Thus, in this work, the genetic diversity existing among 87 different Quercus species was assessed using the RAPD markers, in order to better typify these specimens, to show the amazing DNA variability of this plant genus, and to confirm or infer new putative molecular correlations. Our data were discussed taking into consideration the phylogenetic and phylogeographic relationships previously proposed by the literature. In general, the obtained results corroborated that the evolutionary pattern of Quercus genus has been extremely intricate and continues to change rapidly, making it difficult to be fully resolved. The evidence collected in the present investigation would confirm the complex evolution of the oaks, due to their high migration capacity, divergence rate, and hybridization propensity. This research, performed on a so large series of species, represents a positive contribution for highlighting the genetic diversity within collections of Quercus germplasm and favouring ex-situ conservation programmes

Candida albicans expresses a focal adhesion kinase-like protein that undergoes increased tyrosine phosphorylation upon yeast cell adhesion to vitronectin and the EA.hy 926 human endothelial cell line.

The signaling pathways triggered by adherence of Candida albicans to the host cells or extracellular matrix are poorly understood. We provide here evidence in C. albicans yeasts of a p105 focal adhesion kinase (Fak)-like protein (that we termed CaFak), antigenically related to the vertebrate p125Fak, and its involvement in integrin-like-mediated fungus adhesion to vitronectin (VN) and EA.hy 926 human endothelial cell line. Biochemical analysis with different anti-chicken Fak antibodies identified CaFak as a 105-kDa protein and immunofluorescence and cytofluorimetric analysis on permeabilized cells specifically stain C. albicans yeasts; moreover, confocal microscopy evidences CaFak as a cytosolic protein that colocalizes on the membrane with the integrin-like VN receptors upon yeast adhesion to VN. The protein tyrosine kinase (PTK) inhibitors genistein and herbimycin A strongly inhibited C. albicans yeast adhesion to VN and EA.hy 926 endothelial cells. Moreover, engagement of alpha v beta 3 and alpha v beta 5 integrin-like on C. albicans either by specific monoclonal antibodies or upon adhesion to VN or EA.hy 926 endothelial cells stimulates CaFak tyrosine phosphorylation that is blocked by PTK inhibitor. A role for CaFak in C. albicans yeast adhesion was also supported by the failure of VN to stimulate its tyrosine phosphorylation in a C. albicans mutant showing normal levels of CaFak and VNR-like integrins but displaying reduced adhesiveness to VN and EA.hy 926 endothelial cells. Our results suggest that C. albicans Fak-like protein is involved in the control of yeast cell adhesion to VN and endothelial cells

Characterization of exopolysaccharides produced by seven biofilm-forming cyanobacterial strains for biotechnological applications

The molecular identification of seven biofilmforming cyanobacteria and the characterization of their exopolysaccharides were made and considered in terms of potential biotechnological applications. The studied strains were isolated from phototrophic biofilms taken from various Italian sites including a wastewater treatment plant, an eroded soil, and a brackish lagoon. The polysaccharides were characterized by use of ion exchange chromatography, circular dichroism, and cytochemical stains. All strains produced exopolysaccharides with differing ratios of hydrophobic and hydrophilic moieties depending on the species, the polysaccharide fraction (i.e., whether capsular or released), and the ambient conditions. It was shown that the anionic nature of the exopolysaccharides was due to the presence of carboxylic and sulfated groups and is likely the main characteristic with industrial applicability. Potential biotechnological applications are discusse

A rabdomiólise está associada à febre dengue em um paciente lúpico

ResumoEsse relato descreve o caso de uma mulher com lúpus eritematoso sistêmico (LES) que sofreu rabdomiólise em seguida à sua infecção pelo vírus da dengue. Foram relatados apenas alguns casos de LES com manifestação de rabdomiólise, nenhum deles associados à febre dengue.A princípio, a paciente apresentava‐se com febre alta, mialgia, astenia muscular, leve cefaleia, poliartralgia e trombocitopenia, lembrando uma exacerbação lúpica, mas considerando que o número de pessoas infectadas pela dengue na época era alto e tendo em vista que os sintomas das duas condições são parecidos, foi solicitada sorologia para dengue. Trans‐corridos alguns dias, a paciente apresentou rabdomiólise, tendo então sido tratada com medicamentos imunossupressivos, alcalinização urinária e hidratação vigorosa, medidas que melhoraram seus danos musculares e a condição inflamatória. A sorologia positiva para dengue nos foi disponibilizada apenas depois da instauração do tratamento descrito acima. A paciente recebeu alta em estado assintomático.Esse caso demonstra a grande semelhança entre a febre dengue e uma exacerbação lúpica; isso deve alertar o clínico para que, especialmente durante uma epidemia, faça uma cuidadosa diferenciação entre essas doenças, de forma a estabelecer uma terapia correta e eficiente.AbstractThis report describes the case of a woman with systemic lupus erythematous (SLE) that developed rhabdomyolysis after being infected by dengue virus. There are only a few cases of SLE accompanied by rhabdomyolysis, none of them associated with dengue fever.Initially, the woman presented high fever, myalgia, muscular weakness, mild headache, polyarthralgia and thrombocytopenia reminding a lupus flare, but since the number of people infected by dengue at that time was high and the symptoms from both conditions are similar, a dengue serology was requested. After a few days, the patient developed rhabdomyolysis. She was then submitted to immunosuppressive drugs, urinary alkalization and vigorous hydration, which improved her muscle damage and inflammatory condition. The positive dengue serology was only available after the therapy above had been established. She was discharged in an asymptomatic state.This case demonstrates how alike dengue fever and a lupus flare are, warning clinicians that, especially during an epidemic, both diseases should be carefully differentiated in order to establish a correct and efficient therapy

Case report of a familial triple: a syndrome and review of the literature

RATIONALE: Triple-A syndrome, or Allgrove syndrome (AS), is a rare autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia usually starts at early infancy, while achalasia and adrenal insufficiency appear later during childhood or adulthood. Some patients may also present with the so-called Double-A syndrome (i.e., alacrimia and achalasia, or alacrimia and adrenal insufficiency); adrenal insufficiency usually represents a life-threatening event due to severe hypoglycemia. Many patients may also present other associated manifestations, such as neurological disorders. We describe, here, 2 sisters of non-consanguineous parents. PATIENT CONCERNS: An 8-year-old girl was admitted to the Pediatric Care Unit of Parma after an episode characterized by seizure with loss of consciousness and generalized hypertonia lasting a few minutes. Her sister, a 6-year-old girl, presented with recurrent episodes of vomiting and failure to thrive. DIAGNOSES: Both children were investigated by laboratory tests, esophagogastroduodenoscopy, and imaging. The first patient had the complete triad of AS (alacrimia, achalasia, adrenal insufficiency), while the second one presented only alacrimia and achalasia. Both resulted from a mutation in the achalasia, addisonianism, alacrimia syndrome gene. INTERVENTIONS: Both patients were treated with oral hydrocortisone for Addison disease, and with artificial tears in the first case. After many pneumatic endoscopic dilations and therapy with nifedipine, both patients underwent surgical Heller myotomy for achalasia. OUTCOMES: A rapid and favorable recovery to normal diet and with improvement of growth parameters was obtained. These cases are also compared with the literature data, reported in a brief review. LESSONS: AS is a rare multisystemic disorder. The longer diagnosis is delayed, the greater extent to which this syndrome may be life-threatening, mainly because of hypoglycemia due to adrenal insufficiency. In AS, the red-flag symptom of alacrimia should instigate investigation for achalasia, Addison disease, and achalasia, addisonianism, alacrimia syndrome gene mutation

Sustainability in Aquaponics: Industrial Spirulina Waste as a Biofertilizer for Lactuca sativa L. Plants

Aquaponics represents an alternative to traditional soil cultivation. To solve the problem of nutrient depletion that occurs in this biotechnological system, the application of a spirulina-based biofertilizer was assessed. The microalgal waste used in this study came from industrial processing. Four different dilutions of the supernatant portion of this waste were sprayed on lettuce plants cultivated in an aquaponics system installed at the Botanical Gardens of the Tor Vergata University of Rome. The biofertilizer was characterized to evaluate its amount of macro- and micronutrients. The analysis conducted on the plants involved both morpho-biometric aspects and qualitative–quantitative measurements. The experiments showed that the spirulina extract had a positive effect on the growth and nutraceutical content of the lettuce plants; the obtained results highlighted that a dilution of 75% was the best for treatment. The use of the proposed organic and recycled fertilizer could increase the sustainability of crop cultivation and promote the functioning of aquaponics systems