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This article discusses BCL11B-related dystonia, a genetic disorder that causes childhood-onset generalized dystonia and intellectual disability. The BCL11B gene is involved in the development of various systems in the body. Mutations in this gene have been linked to a syndrome characterized by intellectual disability, facial abnormalities, and T cell abnormalities. Recent case reports suggest that a complex movement disorder, including spasticity and dystonia, can also be part of this syndrome. The article presents a case study of a young girl with BCL11B-related dystonia, providing information about her symptoms, genetic testing, and treatment. The study suggests that BCL11B should be considered in the diagnosis of genetic causes of generalized dystonia with childhood onset and intellectual disability. The research was conducted with the consent of the patient's guardians and was funded by the Italian Ministry of Health. [Extracted from the article]

Objectives: Polyethylene glycol (PEG) split‐dose regimen is recommended as the option of choice for colon preparation before colonoscopy in children and adults. Sodium picosulfate plus magnesium citrate (SPMC) is equally effective but better tolerated than PEG for bowel preparation before colonoscopy in children. The aim of this study was to assess the superiority of SPMC split‐dose regimen compared with SPMC day‐before regimen for bowel cleansing before colonoscopy in children. Methods: This was a multicenter, randomized, single‐blind study. Pediatric inpatients undergoing colonoscopy received SPMC either in the day‐before dosing or in split dosing. Overall bowel cleansing was assessed using the Boston Bowel Preparation Scale (BBPS) and was rated as successful when BBPS was ≥6. Patient tolerability, acceptability, and compliance were recorded. Results: The rate of successful cleansing level was significantly higher in the split‐dose group than in the day‐before group (P < 0.001). The BBPS scores were significantly higher in the split‐dose group than in the day‐before group for the whole colon (P < 0.001), the right colon (P < 0.001) and transverse colon (P < 0.001). Patient acceptability was better in the split‐dose group (P = 0.0003; P = 0.005). The percentage of children needing nasogastric tube placement was better in the split‐dose group (P = 0.007). Conclusions: The split‐dose regimen of SPMC was superior to the day‐before regimen in terms of successful colon cleansing and acceptability. [ABSTRACT FROM AUTHOR]

More than a year and a half after the beginning of the coronavirus disease 2019 (COVID‐19) pandemic, symptoms, such as loss of smell and taste (anosmia and ageusia, respectively), remain difficult to characterize and quantify, especially in children, since no validated tests to assess these disorders are available. However, these symptoms can also be seen in children, although less frequently than observed in the adult population. In this article, we present the results of a national survey that collected the responses of 267 Italian pediatricians on the presence of anosmia and ageusia in children affected by COVID‐19. These data were then compared with existing literature. [ABSTRACT FROM AUTHOR]

Recently, type 2 inflammation has been recognized as one of the most critical factors participating in the pathogenesis of cystic fibrosis (CF). On the one hand, type 2 inflammation restores tissue homeostasis and contributes to the resolution of inflammation following an injury. On the other hand, type 2 response‐activated immune cells may become dysregulated or chronically activated, causing tissue fibrosis. Among the type 2 cytokine‐driven inflammatory pathways, the transforming growth factor β (TGFβ), interleukin (IL)‐17, IL‐33, and IL‐13 have been identified as essential mediators in patients suffering from CF. Given their critical role, we firmly believe that an adequate comprehension of the type 2‐mediated pathways can identify attractive targets to decrease pharmacologically the inflammation and fibrosis occurring in the pulmonary tissue of patients suffering from CF. [ABSTRACT FROM AUTHOR]

The clinical spectrum of SARS‐CoV‐2 infection is mixed. It ranges from asymptomatic cases, medium‐intensity forms with mild to moderate symptoms, to severe ones with bilateral lung involvement and respiratory distress, which can require transfer to ICUs and intubation. In most cases, the clinical picture is characterized by a persistent fever, cough, dyspnoea, expectoration, myalgias, arthralgias, headache, gastrointestinal symptoms, nasal congestion, and pharyngodynia. The spread of COVID‐19 in Europe has highlighted an atypical presentation of disease involving upper airways and, above all, dysfunction of olfactory and gustatory senses. There is ample evidence that COVID‐19 is significantly less severe in children than in adults. However, due to difficulties in assessing the disorder in children, especially among very young patients, the olfaction and gustatory dysfunctions remain open issues. This article sheds light on the upper airway involvement in pediatric COVID‐19 subjects. [ABSTRACT FROM AUTHOR]

Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disease caused by Aspergillus induced hypersensitivity that occurs in immunocompetent but susceptible patients with asthma and/or cystic fibrosis (CF). In children, ABPA remains mostly undiagnosed resulting in one of the most common causes of poorly controlled asthma and highly significant morbidity in children with CF. Currently, no specific diagnostic criteria of ABPA for children are available. Corticosteroids and itraconazole are the mainstays of therapy although there is a lack of randomized clinical trials regarding their usefulness for ABPA in children. Several monoclonal antibodies, such as omalizumab and mepolizumab, may be potential therapies for refractory ABPA in pediatric patients; however, further data are required to clarify the optimal dose and duration of therapy as a routine treatment approach. [ABSTRACT FROM AUTHOR]

Antihistamines are currently one of the most commonly administered drugs in children. They are used to treat symptoms that depend on histamine release, namely allergic diseases, such as rhinitis, asthma, urticaria, and anaphylaxis. It is possible to distinguish first‐ and second‐generation antihistamines. Pharmacological effects and therapeutic indications are similar, but second‐generation antihistamines have fewer adverse effects because they are more selective for peripheral H1 receptors. Although they have been on the market for several years, there are still many adverse effects linked to the antihistamine safety profile, especially in the first years of life. Thus, many antihistamines are prescribed off‐label, especially in children younger than 2 years of age, which is the age‐group where most of the data on drug safety are lacking and many antihistamines are not recommended. This article aims to provide a practical update on the use of antihistamines in children. [ABSTRACT FROM AUTHOR]

The aim of this paper is to review the main topics about the management of paediatric tension-type headache. A Medline search was undertaken of all reports and reviews published between 1990 and 2010 using MeSH search terms 'tension-type headache (TTH), 'treatment' and 'children'. TTH is a very common disorder in childhood and adolescents. In many cases, the frequency and intensity of episodes may be likely to interfere with school and social activities. For this reason, a correct diagnosis and appropriate management of TTH are essential. A detailed history and proper examination, as well as a headache diary, are essential for this purpose and help to distinguish secondary causes of headache. Lacking are studies to test the efficacy and safety of pharmacological treatment in children, and a few well-tested drugs are available for this purpose. To date, relaxation techniques and biofeedback are therefore best placed as the first-line therapies. A thorough evaluation of headache in paediatric age is necessary to make a correct diagnosis and start the appropriate treatment. In particular, an appropriate management requires an individually tailored strategy which should include both pharmacological and nonpharmacological therapies. New treatment options for elderly patients with headache including acute, prophylactic and interventional techniques are needed. [ABSTRACT FROM AUTHOR]

Abstract: Limited data are available on the exercise capacity of young heart transplant recipients. The aim of this study was therefore to assess cardiorespiratory responses to exercise in this group of patients. Fourteen consecutive heart transplant recipients (six girls and eight boys, age-range 5–15 yr) and 14 healthy matched controls underwent a Bruce treadmill test to determine: duration of test; resting and maximum heart rates; maximum systolic blood pressure; peak oxygen consumption (VO2 peak); and cardiac output. Duration of test and heart rate increase were then compared with: time since transplantation, rejections per year, and immunosuppressive drugs received. The recipients also underwent the following lung function tests: forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1). When compared with healthy controls, transplant recipients had tachycardia at rest (126 ± 3.7 beats/min; p < 0.001); significantly reduced tolerance (9.3 ± 0.4 min; p < 0.001), a maximum heart rate of 169 ± 5.4 beats/min (p < 0.05); a cardiac output of 5.65 ± 0.6 L/min (p < 0.05); and a lower heart-rate increase from rest to peak exercise (p < 0.001) but a similar VO2 peak. The heart-rate increase correlated significantly with time post-transplant (r = 0.55; p < 0.05), number of rejection episodes per year (r = - 0.63; p < 0.05), and number of immunosuppressive drugs (r = - 0.60; p < 0.05). The recipients had normal FVC and FEV1 values. After surgery, few heart transplant recipients undertake physical activity, possibly owing to over-protective parents and teachers and to a lack of suitable supervised facilities. The authors stress the importance of a cardiorespiratory functional evaluation for assessment of health status and to encourage recipients, if possible, to undertake regular physical activity. [ABSTRACT FROM AUTHOR]