Massive Pericardial Effusion in a 14-Year-Old Girl with Mild Fatigue and Neck Pain

Pericardial effusion is rare in pediatric patients and is characterized by a variable clinical presentation. Mild symptoms may be present despite severe effusion. We here report the case of a patient with massive pericardial effusion with mild clinical presentation. Our case points out the need not to exclude this diagnosis in patients with mild general impairment. This clinical suspicion can be lifesaving.

Kingella kingae Osteoarticular Infections Approached through the Prism of the Pediatric Orthopedist

Nowadays, Kingella kingae (K. kingae) is considered as the main bacterial cause of osteoarticular infections (OAI) in children aged less than 48 months. Next to classical acute hematogenous osteomyelitis and septic arthritis, invasive K. kingae infections can also give rise to atypical osteoarticular infections, such as cellulitis, pyomyositis, bursitis, or tendon sheath infections. Clinically, K. kingae OAI are usually characterized by a mild clinical presentation and by a modest biologic inflammatory response to infection. Most of the time, children with skeletal system infections due to K. kingae would not require invasive surgical procedures, except maybe for excluding pyogenic germs’ implication. In addition, K. kingae’s OAI respond well even to short antibiotics treatments, and, therefore, the management of these infections requires only short hospitalization, and most of the patients can then be treated safely as outpatients.

An Autochthonous Outbreak of the SARS-CoV-2 P.1 Variant of Concern in Southern Italy, April 2021

The SARS-CoV-2 P.1 variant of concern (VOC) was first identified in Brazil and is now spreading in European countries. It is characterized by the E484K mutation in the receptor-binding domain, which could contribute to the evasion from neutralizing antibodies. In Italy, this variant was first identified in January 2021. Here, we report an autochthonous outbreak of SARS-CoV-2 P.1 variant infections in southern Italy in subjects who had not travelled to endemic areas or outside the Apulia region. The outbreak involved seven subjects, three of whom had received a COVID-19 vaccine (one had received two doses and two had received one dose). Four patients had a mild clinical presentation. Laboratory investigations of nasopharyngeal swabs revealed that all strains were S-gene target failure-negative and molecular tests revealed they were the P.1 variant. Whole-genome sequencing confirmed that five subjects were infected with closely related strains classified as the P.1 lineage. The circulation of VOCs highlights the importance of strictly monitoring the spread of SARS-CoV-2 variants through genomic surveillance and of investigating local outbreaks. Furthermore, public health measures including social distancing, screening, and quarantine for travelers are key tools to slow down the viral transmission and to contain and mitigate the impact of VOC diffusion, and rapid scaling-up of vaccination is crucial to avoid a possible new epidemic wave.

Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia

A 7-year-old girl without a significant previous medical history was diagnosed with X-linked hypophosphatemic rickets (XLHR) due to a rare, most likely pathogenic, PHEX gene variant after a 4-year delayed diagnosis due to mild clinical presentation. At 2 years of age, her intoeing and femoral bowing were attributed to physiologic bowing and borderline vitamin D sufficiency, despite phosphorus not being measured. Hypophosphatemia was eventually detected after incomplete improvement of bowing and leg length discrepancy with suboptimal linear growth. This rare PHEX variant (c.1949T>C, p.Leu650Pro) further supported the clinical diagnosis of XLHR. Treatment with burosumab (an anti-FGF23 monoclonal antibody) normalised phosphorus and alkaline phosphatase levels and improved her bowing. The diverse phenotypic presentation of this variant can result in delayed diagnosis and highlights the importance of prompt assessment of phosphorus levels in patients with skeletal deformities to ensure timely recognition and treatment.

Two Similar Cases of a Misdiagnosed Anterior Communicating Aneurysm Rupture

The misdiagnosis of a ruptured aneurysm directly endangers patient’s life and health due to the high risk of rebleeding and its sequelae. In this paper, we present two uncommon cases of anterior communicating artery aneurysm rupture with a relatively small intracerebral bleeding, seemingly without a diffuse subarachnoid hemorrhage (SAH), and a relatively mild clinical presentation. In these cases, the initial diagnosis failed, leading to missed aneurysmal ruptures. The atypical or mild clinical presentation, and the absence of SAH on computed tomography (CT) and/or magnetic resonance imaging (MRI) scan or absent blood in the cerebrospinal fluid (CSF) are all factors which could lead to a false or delayed diagnosis. Meticulous evaluation of patient’s symptoms, CT, MRI scans, and CSF findings are mandatory. The possibility of a small blood clot without a diffuse SAH must be considered.

Divergent SARS-CoV-2-specific T and B cell responses in severe but not mild COVID-19

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causative agent of the current coronavirus disease 2019 (COVID-19) pandemic. Understanding both the immunological processes providing specific immunity and potential immunopathology underlying the pathogenesis of this disease may provide valuable insights for potential therapeutic interventions. Here, we quantified SARS-CoV-2 specific immune responses in patients with different clinical courses. Compared to individuals with a mild clinical presentation, CD4+ T cell responses were qualitatively impaired in critically ill patients. Strikingly, however, in these patients the specific IgG antibody response was remarkably strong. The observed disparate T and B cell responses could be indicative of a deregulated immune response in critically ill COVID-19 patients.

Giardia duodenalis infection in dogs affected by primary chronic enteropathy

Background: Canine primary chronic enteropathy (CE) includes a heterogeneous group of diseases characterized by chronic gastrointestinal signs.Aim: This study evaluated the occurrence of Giardia duodenalis infection in primary CE-affected dogs.Methods: Forty-seven CE-affected dogs of different age and sex were enrolled in the study. For each dog, frequency of defecation, fecal consistency, and eventual fecal abnormalities were evaluated. A clinical scoring index of CE severity (clinical chronic enteropathy activity index) was also assessed, and the type of enteropathy was retrospectively classified. For parasitological analysis, fresh fecal samples collected from each dog were examined by fresh and Lugol stained smears, flotation test, and a rapid immunoassay. Giardia duodenalis genotypes were identified by molecularanalysis. Differences of clinical parameters between G. duodenalis positive and G. duodenalis negative dogs were statistically evaluated.Results: Among the CE canine patients, 16 out of 47 (34%) dogs were found positive for G. duodenalis and assemblages C and D were identified. No statistical differences emerged according to the types of CE between G. duodenalispositive and G. duodenalis-negative dog groups. The clinical index of CE severity was indicative of significant less severe clinical forms in G. duodenalis-positive dogs (p = 0.037).Conclusion: Results here obtained shows how G. duodenalis may be present in primary CE-affected dogs and further investigations are needed to clarify the real significance of mild clinical presentation in G. duodenalis-positive dogs affected by CE. Keywords: Canine, Clinical forms, Genotypes, Giardiasis, Primary chronic enteropathy.

Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases

Unbalanced X;autosome translocations are a rare occurrence with a wide variability in clinical presentation in which the X chromosome unbalance is usually mitigated by a favorable X inactivation pattern. In most cases, this compensation mechanism is incomplete, and the patients show a syndromic clinical presentation. We report the case of a family with 4 women, of 3 different generations, carrying an unbalanced X;7 translocation with a derivative X;7 chromosome and showing a skewed X inactivation pattern with a preferential activation of the normal X. None of the carriers show intellectual disability, and all of them have a very mild clinical presentation mainly characterized by gynecological/hormonal issues and autoimmune disorders. We underline the necessity of family testing for a correct genetic consultation, especially in the field of prenatal diagnosis. We indeed discuss the fact that X;autosome translocations may lead to self-immunization, as skewed X chromosome inactivation has already been proved to be related to autoimmune disorders.