Further delineation of PIGB-related early infantile epileptic encephalopathy.

Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay, early-onset epilepsy and peripheral neuropathy. We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus. Hypomyelination was documented on brain MRI. Whole-exome sequencing (WES) disclosed the likely pathogenic biallelic PIGB NM_004855.4: c.463G > C, p.(Asp155His) missense variant. In our patient, while other characteristic clinical, neuroimaging and laboratory findings (as described in the first research paper) were present, seizures were not a major clinical issue, thus contributing to our knowledge on this ultra-rare disorder.

Psychological and psychiatric impact of COVID-19 pandemic among children and adolescents.

BACKGROUND: COVID-19 outbreak and the unprecedent measures imposed by the government, including quarantine and social distancing, cause psychological distress in children and adolescents. METHODS: we review literature about mental health effects of COVID-19 pandemic by using the keywords "COVID-19", "coronavirus", "pandemic", "mental health", "psych*", "adolescent" and "child". RESULTS: early evidence show high prevalence of anxiety and depressive symptoms in children and adolescents, due to the pandemic itself, to social isolation and to parents' stress. High grade students, females and low-income families are at higher risk to develop psychiatric symptoms. Psychological distress can be reduced by maintaining contact with peers through social networks and by accurate updates provided by the government through the mass media. Online resources such as information about mental health education and preventive measure, video-counselling, telemedicine and telepsychiatry services, can be useful to reduce the psychosocial effects of the novel coronavirus. CONCLUSION: there is urgent need to plan new strategies for early psychological interventions in order to reduce the impact of COVID-19 pandemic on children and adolescents mental health status.

Follow-up and Management of Kidney Transplant Recipients During the COVID-19 Lockdown: The Experience of an Italian Transplant Center, Including Two Cases of COVID-19 Pneumonia.

BACKGROUND: Coronavirus disease 2019 (COVID-19) is a new infectious disease that emerged in China in late 2019 and is now spreading around the world. Social distancing measures were needed to reduce transmission, and lockdown included restricted access to health care facilities. The impact of COVID-19 on transplant recipients is unknown, but considering their immunosuppression status and associated comorbidities, they should be considered a high-risk population. METHODS: A kidney transplant center in Central Italy implemented a strategy to maintain follow-up of kidney transplant recipients by phone and e-mail during lockdown. Telephone interviews were used to administer a clinical questionnaire to patients, and e-mail was used to receive the results of diagnostic tests conducted in outpatient settings. RESULTS: From March 17 to April 23, 2020, a total of 143 kidney transplant recipients were contacted. Twenty-eight patients needed in-hospital consultation for problems unrelated to COVID-19, 3 of whom needed hospitalization. Eleven patients were managed at home for mild urinary or respiratory diseases, and 1 was referred to the hematologist. We identified 2 suspected cases of COVID-19 infection, and the patients were referred to hospital care. Immunosuppressive therapy was modulated, and intravenous corticosteroids and potentially effective antiviral therapy were administered with a favorable outcome. CONCLUSIONS: In the context of a lockdown, such as that occurring in response to COVID-19, we suggest implementing remote surveillance programs in kidney transplant recipients with the help of any available technology and offering medical consulting and logistic support as needed.

Transplant Patients' Isolation and Social Distancing Because of COVID-19: Analysis of the Resilient Capacities of the Transplant in the Management of the Coronavirus Emergency.

BACKGROUND: One of the peculiar aspects of the transplant patient's life is that, in the post-surgery phase, the patient lives in an "isolation" condition, having to pay particular attention to the living environment and preferring a limited social life given that the immunosuppressive treatment entails immunodepression in the patient. With coronavirus disease 2019 (COVID)-19, as in a post-surgery situation, social isolation is being implemented. MATERIALS AND METHODS: The study started on March 17, 2020, and ended on April 24, 2020. Consulting/phone interviews were made. The phone questionnaire, submitted to 71 patients, consisted of a set of 15 questions that investigated structure and psychological resistance. Eight patients have been monitored exclusively for the psychological aspect through a more articulate supporting path. RESULTS: In essence, from the overall analysis of the data derived from the study of the positioning of patients based on the stage of renal function, the bands related to the development of psychopathological aspects, and the use of positive personal resources, it emerges that patients in stage V kidney failure are in the first bracket as regards the development of psychopathological aspects (absence of these experiences) and in the third bracket as regards the good use of positive resources to deal with isolation. Therefore, it can be deduced that, although with data that can be expanded, a serious or medium-serious situation from an organic point of view in this socio-health emergency situation is well addressed by the transplanted patient. CONCLUSION: Transplant patients have faced the measure of social distancing adequately and in adherence to the treatment thanks to the phone assistance of all the medical-surgical and psychological team.