ABSTRACT Objective This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently. Methods A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed. Results Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy. Conclusion This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome. longterm long term followup follow up PRKAG condition autosomaldominant autosomal dominant hypertrophy preexcitation, preexcitation pre excitation, excitation pre-excitation frequently 6 recruited performed 36971728 36 97 17 28 36.97±17.2 years 699 69 9 69.9 men pK290I pKI p K290I K I gene implants deaths arrests strokes abortions deliveries 1 procedures involvement disorders mutations Palpitations Syncope fibrillation flutter pauses arrest use stroke failure. failure . failure) drugs anticoagulation implantation ablation rates pregnancy pK291IPRKAG2 pKIPRKAG K291I p.K291I_PRKAG prognosis disability miscarriage 3697172 3 2 36.97±17. 69. pK KI IPRKAG pK291IPRKAG 369717 36.97±17 36971 36.97±1 3697 36.97± 369 36.97 36.9 36.

OBJETIVO: Verificar a associação entre o índice de respiração rápida e superficial e o sucesso da extubação em pacientes com traumatismo cranioencefálico. MÉTODOS: Estudo prospectivo, formado por pacientes com traumatismo cranioencefálico, de ambos os gêneros, ventilados mecanicamente por pelo menos 2 dias, que obtiveram sucesso no teste de respiração espontânea. Foram mensurados, por meio da ventilometria, o volume-minuto e a frequência respiratória, sendo calculado o índice de respiração rápida e superficial (frequência respiratória/volume corrente). A variável dependente foi o resultado da extubação: reintubação em 48 horas (falha da extubação) ou não (sucesso da extubação). A variável independente foi o índice de respiração rápida e superficial mensurado após o sucesso no teste de respiração espontânea. RESULTADOS: A amostra foi constituída por 119 pacientes, sendo 111 (93,3%) do gênero masculino. A média da idade foi de 35,0±12,9 anos. O tempo médio de ventilação mecânica foi de 8,1±3,6 dias. Cento e quatro (87,4%) pacientes obtiveram sucesso na extubação. Não foi observada associação entre o índice de respiração rápida e superficial e o sucesso da extubação. CONCLUSÃO: O índice de respiração rápida e superficial não esteve associado ao sucesso da extubação em pacientes com traumatismo cranioencefálico.

OBJECTIVE: To investigate the association between the rapid shallow breathing index and successful extubation in patients with traumatic brain injury. METHODS: This study was a prospective study conducted in patients with traumatic brain injury of both genders who underwent mechanical ventilation for at least two days and who passed a spontaneous breathing trial. The minute volume and respiratory rate were measured using a ventilometer, and the data were used to calculate the rapid shallow breathing index (respiratory rate/tidal volume). The dependent variable was the extubation outcome: reintubation after up to 48 hours (extubation failure) or not (extubation success). The independent variable was the rapid shallow breathing index measured after a successful spontaneous breathing trial. RESULTS: The sample comprised 119 individuals, including 111 (93.3%) males. The average age of the sample was 35.0±12.9 years old. The average duration of mechanical ventilation was 8.1±3.6 days. A total of 104 (87.4%) participants achieved successful extubation. No association was found between the rapid shallow breathing index and extubation success. CONCLUSION: The rapid shallow breathing index was not associated with successful extubation in patients with traumatic brain injury.

OBJETIVO: Avaliar a associação entre falência da extubação e desfechos clínicos e funcionais em pacientes com traumatismo cranioencefálico (TCE). MÉTODOS: Coorte prospectiva com 311 pacientes consecutivos com TCE. Os pacientes foram divididos em dois grupos de acordo com o resultado da extubação: sucesso ou falência (necessidade de reintubação dentro de 48 h após extubação). Um modelo multivariado foi desenvolvido para verificar se a falência de extubação era um preditor independente de mortalidade hospitalar. RESULTADOS: A média de idade foi de 35,7 ± 13,8 anos, e 92,3% dos pacientes eram do sexo masculino. A incidência de falência da extubação foi de 13,8%. A mortalidade hospitalar foi, respectivamente, de 20,9% e 4,5% nos pacientes com falência e com sucesso da extubação (p = 0,001). A realização de traqueostomia foi mais frequente no grupo falência da extubação (55,8% vs. 1,9%; p < 0,001). A mediana de tempo de permanência hospitalar foi significantemente maior nos pacientes com falência do que naqueles com sucesso da extubação (44 dias vs. 27 dias; p = 0,002). Os pacientes com falência da extubação apresentaram piores desfechos funcionais na alta hospitalar. A análise multivariada mostrou que a falência da extubação foi um preditor independente para a mortalidade hospitalar (OR = 4,96; IC95%, 1,86-13,22). CONCLUSÕES: A falência da extubação esteve associada a maior permanência hospitalar, maior frequência de traqueostomia e de complicações pulmonares, piores desfechos funcionais e maior mortalidade em pacientes com TCE.

OBJECTIVE: To evaluate the association between extubation failure and outcomes (clinical and functional) in patients with traumatic brain injury (TBI). METHODS: A prospective cohort study involving 311 consecutive patients with TBI. The patients were divided into two groups according to extubation outcome: extubation success; and extubation failure (defined as reintubation within 48 h after extubation). A multivariate model was developed in order to determine whether extubation failure was an independent predictor of in-hospital mortality. RESULTS: The mean age was 35.7 ± 13.8 years. Males accounted for 92.3%. The incidence of extubation failure was 13.8%. In-hospital mortality was 4.5% and 20.9% in successfully extubated patients and in those with extubation failure, respectively (p = 0.001). Tracheostomy was more common in the extubation failure group (55.8% vs. 1.9%; p < 0.001). The median length of hospital stay was significantly greater in the extubation failure group than in the extubation success group (44 days vs. 27 days; p = 0.002). Functional status at discharge was worse among the patients in the extubation failure group. The multivariate analysis showed that extubation failure was an independent predictor of in-hospital mortality (OR = 4.96; 95% CI, 1.86-13.22). CONCLUSIONS: In patients with TBI, extubation failure appears to lengthen hospital stays; to increase the frequency of tracheostomy and of pulmonary complications; to worsen functional outcomes; and to increase mortality.