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1.
Acta Biomed ; 94(S1): e2023097, 2023 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-36883684

RESUMO

Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%. Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed. Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest.


Assuntos
Hérnias Diafragmáticas Congênitas , Distrofia Miotônica , Humanos , Recém-Nascido , Hérnias Diafragmáticas Congênitas/genética , Distrofia Miotônica/complicações , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética
2.
Ital J Pediatr ; 48(1): 136, 2022 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-35907872

RESUMO

BACKGROUND: The COVID-19 pandemic has dramatically affected healthcare professionals' lives. We investigated the potential mental health risk faced by healthcare professionals working in neonatal units in a multicentre cross-sectional observational study. METHODS: We included all healthcare personnel of seven level-3 and six level-2 neonatal units in Tuscany, Italy. We measured the level of physical exposure to COVID-19 risk, self-reported pandemic-related stress, and mental health load outcomes (anxiety, depression, burnout, psychosomatic symptoms, and post-traumatic symptoms) using validated, self-administered, online questionnaires during the second pandemic wave in Italy (October 2020 to March 2021). RESULTS: We analyzed 314 complete answers. Scores above the clinical cutoff were reported by 91% of participants for symptoms of anxiety, 29% for post-traumatic symptoms, 13% for burnout, and 3% for symptoms of depression. Moreover, 50% of the participants reported at least one psychosomatic symptom. Pandemic-related stress was significantly associated with all the measured mental health load outcomes, with an Odds Ratio of 3.31 (95% confidence interval: 1.87, 5.88) for clinically relevant anxiety, 2.46 (1.73, 3.49) for post-traumatic symptoms, 1.80 (1.17, 2.79) for emotional exhaustion, and 2.75 (1.05, 7.19) for depression. Female health care professionals displayed a greater risk of anxiety, and male health care professionals and nurses, of depressive symptoms. CONCLUSIONS: Despite the low direct clinical impact of COVID-19 in newborns, neonatal professionals, due to both living in a situation of uncertainty and personal exposure to contacts with parents and other relatives of the newborns, and having to carry out activities once routine and now fraught with uncertainty, displayed clear signs of mental health load outcomes. They must be considered a specific population at risk for psychological consequences during the pandemic.


Assuntos
Esgotamento Profissional , COVID-19 , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/psicologia , COVID-19/epidemiologia , Estudos Transversais , Atenção à Saúde , Feminino , Humanos , Recém-Nascido , Masculino , Saúde Mental , Pandemias , SARS-CoV-2
3.
BMC Pediatr ; 22(1): 335, 2022 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-35689179

RESUMO

BACKGROUND: Neonatal Emergency Transport Services play a fundamental role in neonatal care. Stabilization before transport of newborns suffering from severe respiratory failure is often a challenging problem and some critically ill infants may benefit from High Frequency Oscillatory Ventilation (HFOV) as rescue treatment. In these cases, transition to conventional ventilation for transport may cause a deterioration in clinical conditions. HFOV during neonatal transport has been only exceptionally used, due to technical difficulties. Since May 2018, a new neonatal transport unit is available at the Neonatal Protected Transport Service of the Meyer University Hospital in Florence, equipped with a pulmonary ventilator capable of delivering HFOV. Therefore, we conducted an analysis on patients transferred in HFOV to Neonatal Intensive Care Unit (NICU), in order to evaluate the safety and feasibility of its use during neonatal transport. METHODS: A retrospective analysis was performed reviewing medical records of the neonates transported by Meyer Children Hospital's Neonatal Transport Service between May 2018 and December 2020, and newborns treated with HFOV during ground neonatal transport were identified. Safety was assessed by the comparison of vital signs, hemogas-analysis values and pulmonary ventilator parameters, at the time of departure and upon arrival in NICU. The dose of inotropes, the main respiratory complications (air leak, dislocation or obstruction of the endotracheal tube, loss of chest vibrations) and the number of deaths and transfer failures were recorded. RESULTS: Out of the approximate 400 newborns transported during the analysis period, 9 were transported in HFOV. We did not find any statistically significant difference in vital parameters, hemogas-analytical values and pulmonary ventilator settings recorded before and after neonatal transport of the nine patients' parameters (p > 0,05). No patient required additional inotropes during transport. No transport-related deaths or significant complications occurred during transport. CONCLUSIONS: The interest of our report is in the possibility of using HFOV during inter-hospital neonatal transfer. As far as our experience has shown, HFOV appears to be safe for the transportation of newborns with severe respiratory failure. Nevertheless, further larger, prospective and multicentre studies are needed to better evaluate the safety and efficacy of HFOV during neonatal transport.


Assuntos
Ventilação de Alta Frequência , Síndrome do Desconforto Respiratório do Recém-Nascido , Insuficiência Respiratória , Criança , Humanos , Lactente , Recém-Nascido , Dados Preliminares , Estudos Prospectivos , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Insuficiência Respiratória/terapia , Estudos Retrospectivos
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