AimsTo review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.BackgroundEncephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain.ObjectiveTo review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephaloceleMethodsWe conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information.ResultsOccipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.ConclusionOccipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.

Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a clinical condition characterized by a sudden and dramatic obsessive-compulsive disorder with a suggested post-infectious immune-mediated etiology. This condition is accompanied by an extensive series of relatively serious neuropsychiatric symptoms. The diagnosis of PANS is made by “exclusion”, as the individual PANS symptoms overlap with a multiplicity of psychiatric disorders with the onset in childhood. A number of researchers accumulated evidence to support the hypothesis that PANS was closely associated with a number of infections.In the last decade, metabolomics played an essential role in improving the knowledge of complex biological systems and identifying potential new biomarkers as indicators of pathological progressions or pharmacologic responses to therapy. The metabolome is considered the most predictive phenotype, capable of recognizing epigenetic differences, reflecting more closely the clinical reality at any given moment and thus providing extremely dynamic data. In the present work, the most recent hypothesis and suggested mechanisms of this condition are reviewed and the case of a 10 -year-old girl with PANS is described, before and after clarithromycin treatment. The main results of this case report are discussed from a metabolomics point of view. The alteration of several metabolic pathways concerning the microbial activity highlights the possible role of the microbiome in the development of PANS. Furthermore, different metabolic perturbations at the level of protein biosynthesis, energy and amino acid metabolisms are observed and discussed. Based on our observations, it is believed that metabolomics is a promising technology to unravel the mysteries of PANS in the near future.

Gender dimorphism in autism spectrum disorders (ASD) is well known; however, the reasons for gender differences in autism are poorly understood. There are several hypotheses that might explain male prevalence in ASD, including increased levels of androgens, "extreme male brain," and a combination of elevated levels of prenatal testosterone in conjunction with prenatal stress. In this comprehensive review, differences in the gut microbiome and metabolome in humans and animals are described to explain gender differences in individuals with ASD, effects on behavior and social interactions and the impact of antibiotics, probiotics and fecal transplants. The bidirectional relationship between sex hormones and intestinal microbiota could also be relevant. Such interactions have been described in autoimmune diseases, but thus far, are not implicated in ASD. Since intestinal microbiota may affect behavior, it is possible that the prevalence of ASD in boys may be associated with more significant changes in the intestinal microbiome than in affected girls.

Invasive group A streptococcal disease (iGAS) can have varied clinical presentations in children, are responsible for prolonged hospital stays and can cause mortality and long-term morbidity in children. Over the last decade, there has been an increase in the incidence of iGAS infections in the UK and worldwide. This has renewed the focus on early diagnosis, management and prevention of this disease. The aim of this study was to review the varied clinical presentations and management of children with iGAS infections. We reviewed the data of children admitted to our tertiary Children's Hospital who had positive isolation of Group A Streptococcus( GAS) from sterile site cultures over the last 8 years. We reviewed their clinical presentations and management including treatment given (antibiotics and duration), outcome and follow up. A total of 57 children had iGAS during the study period. The incidence of iGAS was 6-7 cases per year during the study period, except for 2015 when we had 11 cases. The mean length of stay of children admitted with iGAS was 11 days (range 2- 35 days). 21.1% children were admitted to intensive care during their hospital stay. Fever was the most common presenting symptom. Pneumonia with or without empyema was the most common Diagnosis. Initial antibiotic management was varied with ceftriaxone the most commonly used antibiotic in 30% of the cases. 50% of children had their antimicrobial therapy optimised to IV benzylpenicillin after the confirmed isolation of GAS. 7 Children were re-admitted for further treatment and needed a further course of antibiotics. 4 children (7%) died due to iGAS infection. Our study highlighted the varied symptomatology and management practices in children with iGAS and showed that early diagnosis and prompt initiation of appropriate antibiotics for iGAS can help in the resolution of symptoms and good outcomes.

Food allergy is a potentially life-threatening medical condition and a significant public health concern worldwide. The current management consists of strict avoidance of the culprit food and treating any adverse reactions from unintended food ingestion. The increasing prevalence of food allergy encouraged research and clinical trials in the field of specific allergen immunotherapy (AIT) which represents an appealing approach, especially in pediatric age. AIT consists of the gradual administration of growing amounts of the offending allergen in order to induce food desensitization, which is an increase in the threshold for reactivity while continuing on regular exposure to the allergen. AIT can be administered through oral, sublingual, epicutaneous, and subcutaneous routes. Reports on oral immunotherapy (OIT) thus far have been more extensive. The desirable goal is to achieve "post desensitization effectiveness", that is the ability to introduce food without reaction even after a period of discontinuation of the offending food. Other therapeutic approaches are being studied alongside immunotherapy such as modified proteins, probiotics, Chinese herbal supplements, biologic therapies, and DNA vaccines.

Allergen-specific immunotherapy (AIT) for aeroallergens consists of the administration of standardized allergen extracts to patients with respiratory IgE-mediated diseases to the same allergen in order to achieve immune tolerance to the allergen and prevent the onset of symptoms. AIT is usually delivered by sublingual (SLIT), subcutaneous (SCIT) route. AIT with one or multiple allergens currently represents the only causal treatment able to change the natural history of allergic airway diseases. Significant progresses have been made in terms of AIT efficacy and safety. In this paper, mechanisms of action, indication and side effects of allergen immunotherapy are reviewed. SLIT and SCIT have been found to be effective in the treatment of asthma and rhinoconjunctivitis due to inhalant allergens. The route of AIT administration should be selected on availability, cost (dependent from the local health system), tolerability (better for SLIT), patient's preference (injections are less accepted in young children), and adherence (higher for SCIT beyond pediatric age). However, it should be taken into account that metanalyses on AIT do not consider that effectiveness and safety depend upon the product chosen for treatment. Each product should be separately assessed to avoid generalization on administration routes or age group that may affect the decision.

Mid-Aortic Syndrome (MAS) is a rare vascular malformation characterized by segmental narrowing of the abdominal aorta and stenosis of its principal branches. Patients affected by MAS typically present malignant renovascular hypertension, with variable clinical symptoms like claudication, abdominal angina, and headache. Moreover, they can develop other complications, such as hypertensive encephalopathy, congestive heart failure and vascular brain accidents. Hypertension with MAS is often resistant to multidrug therapy, requiring a surgical approach to treat the clinical symptoms, prevent or block organ damage and normalize the blood pressure. Here, the case of a 4-year-old boy showing elevated blood pressure with left ventricular hypertrophy leading to idiopathic MAS, who was successfully treated with percutaneous transcatheter renal angioplasty (PTRA) using an unusual, anterograde access, is reported. In children and adolescents, vascular malformations like MAS must be considered as a possible cause of hypertension. PTRA is a successful therapeutic strategy in children with severe renovascular hypertension. Anterograde access, using an axillary artery, can be a valid approach for PTRA when femoral access is difficult to achieve.

Although LC-MS/MS is preferred as a reliable method, therapeutic enzyme drugs in the blood matrix may lead to false results. The purpose of this article is to experimentally investigate the effect of five different enzymes used in the treatment of metabolic diseases on blood immunosuppressant measurement. Five different enzyme drugs (galsulfase, alglucosidase alfa, imiglucerase, elosulfase alfa, laronidase) were added to control materials containing tacrolimus, everolimus, sirolimus, and cyclosporine A drugs. Measurements were performed using an LC-MS/MS instrument (Shimadzu 8040, Japan). The amount of deviations from the target values was calculated. Blood Immunosuppressant levels significantly changed after the administration of enzyme drugs. Four different enzyme drugs led to false-positive results in the tacrolimus levels at a rate of 10.58% (95% CI, 9.83-11.32) to 37.28% (95% CI, 33.55-41.27). The highest deviations were observed with the administration of galsulfase and alglucosidase alpha in the sirolimus levels at rates of 336.54% (95% CI, 306.25-366.82) and 395.88% (95% CI, 360.25-431.50), respectively. Imiglucerase was the least effective enzyme for the sirolimus level (0.80% (95% CI, 0.71-0.89). Different deviations between the ratios of - 9.37% (95% CI, -10.40 - -8.33) and 8.33% (95% CI, 7.41-9.24) were determined at the cyclosporin A level. Galsulfase, alglucosidase alpha, imigluserase, elosulfase alpha and laronidase can significantly interfere with immunosuppressant measurements with LC-MS/MS. False immunosuppressant results associated with enzyme injection may result in immunosuppression failure, organ rejection. For the measurement of immunosuppressant levels, sampling should be done before the enzyme infusion. Clinicians should question the time of enzyme infusion and sampling when confounding results in immunosuppressant measurement.