Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

Takenouchi-Kosaki syndrome (TKS) is a recently delineated syndromic form of thrombocytopenia strictly related to an hot-spot missense variant, p.Tyr64Cys, in CDC42 (Cell Division Control protein 42). Herein we report an additional patient with the p.Tyr64Cys aminoacidic substitution who showed the well-defined phenotypical TKS features and an intermittent, very mild, macrothrombocytopenia at 10.7 years of age (93,000/mL), that was only retrospectively valorized. Outside of this value the PLT count had always been higher than 100,000/mL. We also review literature data from patients carrying this recurrent variant. Our female patient presented with prenatal onset of short stature and microcephaly, camptodactyly, heart defects, typical facial gestalt, developmental delay, and not specific brain abnormalities. After several genetic investigations (karyotype, CGH-Array, targeted NGS analysis for short stature genes), by whole exome sequencing we identified the p.Tyr64Cys in CDC42, occurring de novo. The case presented here provides further evidence that macrothrombocytopenia can be intermittent and thus it might escape attention of clinicians. Without this key feature, TKS clinical presentation can overlap other syndromic forms of short stature. Immunodeficiency, autoimmunity, and malignancies were recently reported in patients with the p.Tyr64Cys substitution, making imperative an early diagnosis of Takenouchi-Kosaki syndrome to organize the most proper follow-up of these pediatric patients. The whole exome sequencing can be a solving tool in the challenge to the rare diseases.

Telemedicine in the COVID-19 era: Taking care of children with obesity and diabetes mellitus.

Severe acute respiratory syndrome coronavirus 2 infection was declared a pandemic in January 2020. Since then, several measures to limit virus transmission have been imposed; among them, home confinement has been the most severe, with drastic changes in the daily routines of the general population. The "stay at home" rule has impaired healthcare service access, and patients with chronic conditions were the most exposed to the negative effects of this limitation. There is strong evidence of the worsening of obesity and diabetes mellitus in children during this period. To overcome these issues, healthcare providers have changed their clinical practice to ensure follow-up visits and medical consultation though the use of telemedicine. Telemedicine, including telephone calls, videocalls, data platforms of shared telemedicine data platforms mitigated the negative effect of pandemic restrictions. Published evidence has documented good metabolic control and weight management outcomes in centers that performed extensive telemedicine services last year during the pandemic. This review discusses studies that investigated the use of telemedicine tools for the management of pediatric obesity and diabetes.

Pediatric obesity: prevention is better than care.

Pediatric obesity is one of the most relevant health issues of the last century. Obesity-related short and long-term consequences are responsible of a large amount of economic cost. In addition, the different therapeutic strategies, such as lifestyle correction, drug, and bariatric surgery have displayed low effectiveness. Considering this evidence, prevention appears to be more promising than treatment in contrasting obesity epidemic. In this review, we summarize obesity pathogenesis with the aim of highlight the main obesity risk factors that can be addressed as target of preventive interventions. Moreover, we report the evidence about effectiveness of different interventions targeting family, school, and community. A multiple-component intervention, addressing different targets and settings, might be desirable, however more studies are needed to confirm long-term efficacy and to direct policy interventions.

Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1.

s: The natural history of non-optic central nervous system (CNS) tumors in neurofibromatosis type 1 (NF1) is largely unknown. Here, we describe prevalence, clinical presentation, treatment, and outcome of 49 non-optic CNS tumors observed in 35 pediatric patients (0-18 years). Patient- and tumor-related data were recorded. Overall survival (OS) and progression-free survival (PFS) were evaluated. Eighteen patients (51%) harbored an optic pathway glioma (OPG) and eight (23%) had multiple non-optic CNS lesions. The majority of lesions (37/49) were managed with a wait-and-see strategy, with one regression and five reductions observed. Twenty-one lesions (42.9%) required surgical treatment. Five-year OS was 85.3%. Twenty-four patients progressed with a 5-year PFS of 41.4%. Patients with multiple low-grade gliomas progressed earlier and had a lower 5-year PFS than those with one lesion only (14.3% vs. 57.9%), irrespective of OPG co-presence. Non-optic CNS tumors are common in young patients with NF1. Neither age and symptoms at diagnosis nor tumor location influenced time to progression in our series. Patients with multiple lesions tended to have a lower age at onset and to progress earlier, but with a good OS.