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Congenital melanocytic nevi (CMN) are observed frequently in children. The anomalous skin shows a widely variable clinical expression not only in the anatomic location, but also in color, morphology and superficial structure. According to the width CMN are distinguished in small, medium, large or giant. Aside the cosmetic problem and its psychological implications, CMN may present with severe complications consisting of malignant transformation and/or central nervous system involvement. We report on a 3-month old infant with an extensive CMN in the left leg, which extended from the lower portion of the knee to the foot, with satellite nevi. Concomitant with the extensive nevi in the same district a remarkable reduction in size was present, and involved the adipose and muscle tissues, contributing to a counterpart diameter difference of 5 cm, without bone involvement. Melanocytic nevi and soft tissue undergrowth in the leg is a usual association; a pathogenic explanation on the anomaly involving concomitantly the skin and the underneath soft tissues is advanced. [ABSTRACT FROM AUTHOR]

During the COVID-19 pandemic, physical activity was significantly decreased in all age groups. The purpose of this study is to investigate children's motor skills by administering an adapted physical activity program for the development of coordination skills. The sample consisted of 28 children aged 8 to 12 years, 20 neurotypical children and 8 with ASD-HF. Data collection employed various methods, including a personal information form, a leisure time exercise questionnaire, a semi-structured interview, and the Harre Dexterity Circuit for assessing physical activity improvements. The results of the two-way analysis of variance (two-way ANOVA) Tukey HSD test showed the differences between the specific groups, ASD-P vs. ASD-O (p < 0.001), ASD-O vs. AB-O (p < 0.001), ASD-O vs. AB-P (p < 0.001), ASD-O vs. AB-P (p = 0.136), ASD-P vs. AB-P (p < 0.0010, and AB-P vs. AB-O (p = 0.003). As result, both groups showed strong interest in practicing physical activity, and no statistical difference was found in doing so at home or in attendance, showing that physical activity practice is a tool for parent–child bonding and mutual enjoyment, emphasizing that the mixed approach yielded positive results in all participants. [ABSTRACT FROM AUTHOR]

Background: Lemierre syndrome is a rare, potentially fatal complication of oropharyngeal infections characterized by septic thrombophlebitis of the internal jugular vein. It primarily affects healthy adolescents and young adults. Its incidence declined after the antibiotic era, but it may have resurged in recent decades, likely due to judicious antibiotic use and increasing bacterial resistance. Prompt diagnosis and treatment are imperative to prevent significant morbidity and mortality. Methods: Lemierre syndrome has been called "the forgotten disease," with a reported incidence of around 3.6 cases per million. The mean age at presentation is around 20 years old, though it can occur at any age. Lemierre Syndrome follows an oropharyngeal infection, most commonly pharyngitis, leading to septic thrombophlebitis of the internal jugular vein. F. necrophorum is the classic pathogen, though other organisms are being increasingly isolated. Metastatic infections, especially pulmonary, are common complications. Contrast-enhanced CT of the neck confirming internal jugular vein thrombosis is the gold standard for diagnosis. Long-course broad-spectrum IV antibiotics covering anaerobes are the mainstays of the disease's treatment. Anticoagulation may also be considered. Mortality rates are high without treatment, but most patients recover fully with appropriate therapy. Conclusions: Lemierre syndrome should be suspected in patients with prolonged pharyngitis followed by unilateral neck swelling and fevers. Early diagnosis and prompt antibiotic therapy are key, given the potential for disastrous outcomes if untreated. An increased awareness of Lemierre syndrome facilitates its timely management. [ABSTRACT FROM AUTHOR]

Coronavirus disease 2019 (COVID-19) has been chiefly linked with substantial respiratory complications. However, emerging studies have brought attention to the occurrence of severe muscle inflammation (myositis) related to COVID-19, potentially leading to multi-organ failure and increased mortality. Myositis is generally characterized by heightened serum creatine kinase (CK) levels. Acute myositis is characterized by an infiltration of viruses into calf muscle fibers, which may cause a subsequent inflammatory response leading to calf muscle pain. Symptomatic and supportive management, along with explanation and reassurance, is all that is required in managing this condition. While the association between myositis and severe outcomes has been recognized in adults, it remains less understood in the pediatric population. The current retrospective study, conducted at Policlinico San Marco University Hospital in Catania, aimed to analyze clinical and laboratory factors associated with myositis in pediatric patients with SARS-CoV-2 infection. Between January 2022 and January 2023, ten pediatric patients diagnosed with myositis and SARS-CoV-2 infection were evaluated. The study highlighted clinical manifestations such as fever, calf muscle pain, and abnormal gait. Lab results showed elevated CK levels among other findings. All patients underwent treatment, with the majority recovering without complications. A notable correlation was observed between CK levels, blood urea nitrogen (BUN), and the urea/creatinine ratio (UCR). The study also discusses potential pathophysiological mechanisms behind SARS-CoV-2's impact on skeletal muscles, emphasizing an indirect inflammatory response. Our findings underscore that while myositis in children with SARS-CoV-2 infection appears to follow a benign and self-limiting trajectory, it is crucial to monitor specific markers for early intervention and management. Further research is warranted to elucidate the underlying mechanisms and improve clinical outcomes. [ABSTRACT FROM AUTHOR]

The aim of this systematic review is to guide the physician in defining the pharmacologic and rehabilitative therapeutic approaches for adopting the best strategies described in the current literature. The search was conducted in PubMed, EMBASE, Cochrane Library and Web of Science to identify the treatment of small fiber neuropathies. Two reviewers independently reviewed and came to a consensus on which articles met inclusion/exclusion criteria. The authors excluded the duplicates, animal studies and included the English articles in which the treatment of patients with small fiber neuropathies was described. The search identified a total of 975 articles with the keywords "small fiber neuropathy" AND "rehabilitation" OR "therapy" OR "treatment". Seventy-eight selected full-text were analyzed by the reviewers. Forty-two publications met the inclusion criteria and were included in the systematic review to describe the rehabilitative and pharmacologic treatment of small fiber neuropathies. Despite the range of different protocols of treatment for small fiber neuropathy, other robust trials are needed. In addition, always different therapeutic approaches are used; a unique protocol could be important for the clinicians. More research is needed to build evidence for the best strategy and to delineate a definitive therapeutic protocol. [ABSTRACT FROM AUTHOR]

Background: Lysosomal storage disorders (LSDs) are rare, chronic, progressive multisystem diseases implying severe medical issues and psychological burden. Some of these disorders are susceptible to a treatment, which is administered weekly or every other week, in a hospital. During the COVID-19 (Corona Virus Disease 2019) pandemic lockdown, patients with LSDs on enzyme replacement therapy (ERT) missed their scheduled access to the Day Hospital to get their treatment. Methods: Based on the feeling that our patients were experiencing profound distress, we designed a structured telephone interview with the aim to evaluate how, and to which extent, the pandemic outbreak was changing their behavior and feelings about their chronic disease, the impact on therapies, and future expectations. The same interview was administered to an age-matched control group. Results: All interviewed people experienced an increase of anxiety, worries, and uncertainty fostered by incessant media updates. Moreover, a striking similarity emerged between the groups regarding forced home reclusion and the profound feeling to be excluded by normal life, well-known to those affected by a chronic rare disease. Conclusions: Although no statistically significant difference was found compared to controls, we felt that the reactions were qualitatively different, underlining the fragility and isolation of such patients. [ABSTRACT FROM AUTHOR]

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype–phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient's features with those reported in other patients, which allows us to place our proband's expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype–phenotype relationship. [ABSTRACT FROM AUTHOR]

Preterm birth (PTB), defined as parturition prior to 37 weeks of gestation, is the leading cause of morbidity and mortality in the neonatal population. The incidence and severity of complications of prematurity increase with decreasing gestational age and birthweight. The aim of this review study is to select the most current evidence on the role of oxidative stress in the onset of preterm complication prevention strategies and treatment options with pre-clinical and clinical trials. We also provide a literature review of primary and secondary studies on the role of oxidative stress in preterm infants and its eventual treatment in prematurity diseases. We conducted a systematic literature search of the Medline (Pubmed), Scholar, and ClinicalTrials.gov databases, retroactively, over a 7-year period. From an initial 777 articles identified, 25 articles were identified that met the inclusion and exclusion criteria. Of these, there were 11 literature reviews: one prospective cohort study, one experimental study, three case-control studies, three pre-clinical trials, and six clinical trials. Several biomarkers were identified as particularly promising, such as the products of the peroxidation of polyunsaturated fatty acids, those of the oxidation of phenylalanine, and the hydroxyl radicals that can attack the DNA chain. Among the most promising drugs, there are those for the prevention of neurological damage, such as melatonin, retinoid lactoferrin, and vitamin E. The microbiome also has an important role in oxidative stress. In conclusion, the most recent studies show that a strong relationship between oxidative stress and prematurity exists and that, unfortunately, there is still little therapeutic evidence reported in the literature. [ABSTRACT FROM AUTHOR]

Seizures are defined as a transient occurrence of signs and symptoms due to the abnormal, excessive, or synchronous neuronal activity in the brain characterized by abrupt and involuntary skeletal muscle activity. An early diagnosis, treatment, and specific medical support must be performed to prevent Status Epilepticus (SE). Seizure onset, especially in the child population, is related to specific risk factors like positive family history, fever, infections, neurological comorbidity, premature birth, mother's alcohol abuse, and smoking in pregnancy. Early death risk in children without neurological comorbidity is similar to the general population. Diagnosis is generally based on the identification of continuous or recurrent seizures but Electroencephalogram (EEG) evaluation could be useful if SE condition is suspected. The main goal of therapy is to counteract the pathological mechanism which occurs in SE before neural cells are irreversibly damaged. According to the latest International Guidelines and Recommendations of seizure related diseases, a schematic and multi-stage pharmacological and diagnostic approach is proposed especially in the management of SE and its related causes in children. First measures should focus on early and appropriate drugs administration at adequate dosage, airway management, monitoring vital signs, Pediatric Intensive Care Unit (PICU) admission, and management of parent anxiety. [ABSTRACT FROM AUTHOR]

Background: Juvenile dermatomyositis (JDM) is a systemic, autoimmune, interferon (IFN)-mediated inflammatory muscle disorder that affects children younger than 18 years of age. JDM primarily affects the skin and the skeletal muscles. Interestingly, the role of viral infections has been hypothesized. Mammalian 2′-5′-oligoadenylate synthetase (OAS) genes have been thoroughly characterized as components of the IFN-induced antiviral system, and they are connected to several innate immune-activated diseases. The main purpose of the paper is to define the potential interrelationship between the OAS gene family network and the molecular events that characterize JDM along with double-stranded RNA (dsRNA) molecular pathways. Methods: We analyzed three microarray datasets obtained from the NCBI in order to verify the expression levels of the OAS gene family network in muscle biopsies (MBx) of JDM patients compared to healthy controls. Furthermore, From GSE51392, we decided to select significant gene expression profiles of primary nasal and bronchial epithelial cells isolated from healthy subjects and treated with polyinosinic-polycytidylic acid (poly(I:C)), a synthetic analog of double-stranded RNA (dsRNA), a molecular pattern associated with viral infection. Results: The analysis showed that all OAS genes were modulated in JDM muscle biopsies. Furthermore, 99% of OASs gene family networks were significantly upregulated. Of importance, 39.9% of modulated genes in JDM overlapped with those of primary epithelial cells treated with poly(I:C). Moreover, the microarray analysis showed that the double-stranded dsRNA virus gene network was highly expressed. In addition, we showed that the innate/adaptive immunity markers were significantly expressed in JDM muscles biopsies. and that their levels were positively correlated to OAS gene family expression. Conclusion: OAS gene expression is extremely modulated in JDM as well as in the dsRNA viral gene network. These data lead us to speculate on the potential involvement of a viral infection as a trigger moment for this systemic autoimmune disease. Further in vitro and translational studies are needed to verify this hypothesis in order to strategically plan treatment interventions. [ABSTRACT FROM AUTHOR]