Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit.

BACKGROUND: The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases. MATERIAL AND METHODS: An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022. Three 'pathophysiological' groups were defined: cases due to small molecules, energy deficiency and complex molecules. RESULTS: Twenty newborns, with a median age at admission of 7.5 days, were included. Thirteen (65%) were female, sixteen (80%) had a small molecule disorder, and four (20%) had diseases of energy defects. Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. There was no difference between the groups in neurological, cardiac, and hepatic involvement and shock at presentation. A symptom-free interval was more frequent in patients with small molecule disorders than the others (p=0.01). The main metabolic changes found were altered plasma amino acids (n=13) and organic aciduria (n=10), creatine kinase elevation (n=13), hyperlactatemia (n=12), metabolic acidosis with increased anion gap (n=8) and hyperammonaemia (n=7). Newborn screening of metabolites helped make a diagnosis in 60% of cases. Five newborns died due to multiorgan failure (n=3) or refractory cardiogenic shock (n=1), and in one, therapeutic efforts were limited due to an adverse neurological prognosis. CONCLUSION: Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. Newborns with suspected inherited metabolic disease should be evaluated with simple biochemical tests, and newborn screening should be urgently expanded to start specific treatment earlier, reducing mortality and morbidity.

Combined neuraxial-general anesthesia in opsoclonus-myoclonus syndrome: A case report.

Opsoclonus-myoclonus syndrome (OMS) is a very rare neurological disorder thought to be the result of autoimmune responses in the nervous system. The relationship between this disorder and anesthesia procedures has not been studied in detail. To our knowledge, there are only 4 case reports, none of them with epidural-general combined anesthesia. We present a 9-year-old female with OMS due to low-grade neuroblastoma, for 7 years, who underwent tumor remotion due to the large size. Intravenous induction was done with alfentanil, lidocaine, propofol and rocuronium and ropivacaine was administered via lumbar epidural catheter. Adding to the sparse anesthetic management information in OMS, we now show one more possible approach, that can be valuable in high-risk cases, where general anesthesia can be involved with higher risk for the patient.

Atypical antipsychotic-induced mania: A systematic review and meta-analysis.

BACKGROUND: The possibility of atypical antipsychotics (AA) to induce manic symptoms has been raised by several articles. The objective of this study was to describe whether exposure to AA may induce mania in mood disorders. METHODS: We performed a systematic review following the preferred reporting items for systematic reviews and meta-analysis guidelines. The systematic search encompassed all relevant studies published until April 4th, 2022. A meta-analysis testing whether treatment emergent mania (TEM) is more frequent with the use of AA compared with placebo was performed. RESULTS: A total of 52 studies were included in the systematic review. We found 24 case reports or case series describing 40 manic/hypomanic episodes allegedly induced by AA. Twenty-one placebo-controlled trials were included in a meta-analysis including 4823 individuals treated with AA and 3252 individuals receiving placebo. Our meta-analysis showed that the use of AA protects against the development of TEM (OR: 0.68 [95 % CI: 0.52-0.89], p = 0.005). LIMITATIONS: AA-induced mania/hypomania was not the primary outcome in any of the observational or interventional studies. TEM was not homogeneously defined across studies. In most case reports it was not possible to establish causality between the use of AA and the development of manic symptoms. CONCLUSIONS: TEM is more frequent with placebo than with AA, which suggests that AA exposure does not represent a relevant risk for TEM. Mania/hypomania induced by an AA seems to be rare events, since anecdotal evidence from case reports and case series were not observed in observational prospective and interventional studies.

Triggers for acute mood episodes in bipolar disorder: A systematic review.

OBJECTIVES: To identify triggers of acute mood episodes in bipolar disorder (BD). METHODS: We performed a systematic review in the following databases: Pubmed, Embase, and PsycInfo following the preferred reporting items for systematic reviews and meta-analysis guidelines. The systematic search encompassed all relevant studies published until May 23rd, 2022. RESULTS: A total of 108 studies (case reports/case series, interventional, prospective and retrospective studies) were included in the systematic review. While several decompensation triggers were identified, pharmacotherapy was the one with the largest body of evidence, particularly the use of antidepressants as triggers of manic/hypomanic episodes. Other identified triggers for mania were brain stimulation, energy drinks, acetyl-l-carnitine, St. John's wort, seasonal changes, hormonal changes and viral infections. There is a relative paucity of evidence concerning triggers for depressive relapses in BD, with possible triggers including fasting, decreased sleep and stressful life events. CONCLUSIONS: This is the first systematic review about triggers/precipitants of relapse in BD. Despite the importance of identification and management of potential triggers for BD decompensation, there is a lack of large observational studies addressing this topic, with most of the included studies being case reports/case series. Notwithstanding these limitations, antidepressant use is the trigger with the strongest evidence for manic relapse. More studies are needed to identify and manage triggers for relapse in BD.

Addictive Potential of Social Media: A Cross Sectional Study in Portugal.

INTRODUCTION: The use of social media is an extremely popular activity, with an average time spent of two and a half hours daily. The number of users continues to rise, with 4.65 billion around the world in 2022, approximately 58.7% of the world population. A rising number of studies show that a minority of these persons will develop a behavioral addiction on social media. The aim of this study was to understand if the use of a specific social media platform predicts increased addictive potential. MATERIAL AND METHODS: A cross-sectional sample of 300 persons (aged 18 years-old or older, 60.33% female), completed an online survey including sociodemographic questions, data regarding the use of social media and the Bergen Social Media Addiction Scale (BSMAS). Linear and logistic regression models were performed to determine the risk for each media platform. RESULTS: Instagram® use was a significant predictor of higher scores on the BSMAS (B 2.51; p < 0.0001; CI 1.33 - 3.69). The use of other platforms including Facebook® (B -0.31), Twitter® (B 1.38) and Pinterest® (B -0.15) was not found to predict a higher risk of social media addiction. CONCLUSION: Instagram® scored a higher grade in BSMAS scale, with statistical significance, which could suggest a higher addictive potential. More research is needed to establish the direction of this relationship, since the cross-sectional study design does not allow inferences about directionality.

Introdução: A utilização de redes sociais é uma atividade bastante popular nos dias de hoje, com um tempo médio de utilização diária de duas horas e meia. O número de utilizadores continua a aumentar, perfazendo 4,65 mil milhões em 2022, aproximadamente 58,7% da população mundial. Um número crescente de estudos mostra que uma minoria destes utilizadores irá desenvolver uma adicção comportamental às redes sociais. O objetivo deste estudo é compreender se o uso de uma plataforma de rede social específica é um preditor de maior potencial adictivo. Material e Métodos: Uma amostra de 300 pessoas (idade igual ou superior a 18 anos, 60,33% sexo feminino), completou um questionário online, com fatores sociodemográficos, dados acerca do uso de redes sociais e a Bergen Social Media Addiction Scale (BSMAS). Foram feitas análises de regressão linear e logística para determinar o potencial de adicção de cada plataforma. Resultados: A utilização do Instagram® foi um preditor significativo para pontuações mais altas na BSMAS (B 2,51; p < 0,0001; CI 1,33 - 3,69). O uso de outras plataformas, incluindo o Facebook® (B -0,31), o Twitter® (B 1,38) e o Pinterest® (B -0,15) não pareceu ser um preditor de maior risco adictivo Conclusão: O Instagram® atingiu uma maior classificação na BSMAS, com significância estatística, o que pode sugerir um maior potencial adictivo. É necessária mais investigação para estabelecer a direção desta relação, visto que o desenho transversal não permite inferências sobre a direccionalidade.

Kaposi sarcoma in three pediatric liver transplantation recipients.

BACKGROUND: Kaposi sarcoma (KS) is an endothelial cell tumor, rare in children. It is 200 times more frequent after solid organ transplantation than in the general population. METHODS: We report three cases of pediatric patients who developed KS after liver transplantation (LT). RESULTS: Case 1, a 4-year-old boy undergoing LT due to familial intrahepatic cholestasis. Five months after LT, he presented with fever, dyspnea, and cough with enlarged lymph nodes and splenomegaly, anemia, thrombocytopenia, elevated liver enzymes, and positive EBV viral load. Lymph node biopsy diagnosed KS with an elevated HHV8 viral load. Case 2, a 4-year-old boy who underwent LT due to secondary biliary cirrhosis resulting from extrahepatic biliary atresia. Two years later, graft dysfunction was noticed with positive EBV viral load, thrombocytopenia, massive cervical lymph node enlargement, and splenomegaly. Lymph node biopsy diagnosed KS, Castleman's disease, and plasmablastic lymphoma related to HHV8 infection. Case 3, a 15-month-old girl, who received two LT due to biliary cirrhosis. Six months later, she presented with diarrhea, abdominal distension, anemia, thrombocytopenia, enlarged lymph nodes, splenomegaly, and positive CMV viral load. Axillary lymph node biopsy diagnosed KS and HHV8 infection was confirmed. In all three cases, tacrolimus was discontinued and, after diagnosis, sirolimus was started. All recovered without relapse and have a good graft function. CONCLUSIONS: Kaposi sarcoma is a rare disease post-LT in children. Recognizing keywords and early diagnosis is crucial for timely treatment and survival.

Long Time, No Sleep: Sleep in Older Adults During the COVID-19 Pandemic.

Objective: The coronavirus disease 2019 (COVID-19) pandemic has had a major impact globally. While sleep problems have increased during the pandemic, their impact on specific populations is less well known. The objective of this study was to measure the impact of the COVID-19 pandemic on sleep and how it correlates with the feeling of isolation in individuals aged ≥ 50 years.Methods: A cross-sectional study was conducted using data from the Survey of Health, Aging, and Retirement conducted between June and August 2020. A multivariate logistic regression model was performed to analyze the outcome "more or less trouble sleeping since the outbreak" and its main predictors.Results: The mean ± SD age of the participants was 71 ± 9 years. Since the outbreak, 29% reported a deterioration of their quality of sleep. Being male and older were found to be significant predictors of more sleep complaints (OR = 1.13; P = .004; CI, 1.04-1.23 and OR = 1.02; P = .000; CI, 1.02-1.03, respectively). Moreover, those who claimed that they often felt alone or more loneliness since the beginning of the outbreak also had more trouble sleeping (OR = 1.21; P = .002; CI, 1.07-1.37 and OR = 4.06; P = .000; CI, 2.75-5.99, respectively).Conclusions: Male sex, older age, and loneliness are associated with more sleeping difficulties since the beginning of the COVID-19 pandemic. These findings can aid health authorities to address sleep issues in this vulnerable population more directly.

Concurrent catatonia and COVID-19 infection in a demented patient: A case report.

Catatonia is a complex neuropsychiatric syndrome that comprises motor, behavioral and autonomic abnormalities. It occurs in the context of general medical, neurological, and psychiatric conditions. The study of catatonia in the elderly is particularly challenging due to the higher somatic and cognitive comorbidity, polymedication and the higher prevalence of delirium. Catatonia remains underdiagnosed in this population, especially in those with dementia. We describe a case of an 82-years-old patient with mixed dementia, who developed catatonia for the first time, during her admission to our general medical ward due to SARS-CoV-2 organizing pneumonia. Besides the specific treatment for SARS-CoV-2 organizing pneumonia, catatonia was treated symptomatically with benzodiazepines and memantine with success. In general, catatonia in older patients tends to have a good prognosis if detected early, its cause treated, the symptoms managed, and complications avoided. We report this case to alert clinicians in medical wards to this condition, to improve its overall diagnosis and treatment rates.

Galactokinase deficiency: a treatable cause of bilateral cataracts.

Congenital cataract can be caused by several systemic diseases and differential diagnosis should be done between infections, genetic or metabolic diseases. We present a case of a 12-month-old girl with bilateral nuclear cataracts that was referred for investigation. Since she did not present a family history of congenital cataracts or metabolic diseases, and her physical examination was normal, a systemic evaluation was performed. Biochemical studies disclosed abnormal galactose metabolism signs. The diagnosis of galactokinase (GALK1) deficiency was considered and the study of the GALK1 gene allowed identifying a pathogenic genetic variant and a predictably pathogenic missense mutation, previously not described. Dietary measures were imposed with a good evolution.

[The Impact of COVID-19 in Older People in Portugal: Results from the Survey of Health, Ageing and Retirement (SHARE)]. / O Impacto da COVID-19 na População Idosa em Portugal: Resultados do Survey of Health, Ageing and Retirement (SHARE).

INTRODUCTION: In March 2020, the World Health Organization declared COVID-19 as a pandemic, and Portugal reported its initial cases. In this study, we aimed to determine the impact of COVID-19 on Portuguese individuals aged over 60 years old. MATERIAL AND METHODS: We performed a cross-sectional study using data from the Survey of Health, Ageing and Retirement in Europe (SHARE 8: COVID-19 Survey). We selected a sample of 1080 noninstitutional Portuguese individuals aged ≥ 60 years. RESULTS: The study sample consisted of 605 (56%) women and 475 (44%) men, with a mean age of 70 ± 9.1 years. In total, 80% of the participants experienced higher levels of anxiety, 73% felt more depressed and 30% experienced additional sleep problems comparedto the period before the pandemic. Interestingly, there were no statistically significant differences between the sexes or the two selected age groups (60 - 74 and over 75 years old) regarding the incidence of these changes. Only 23%, of those that were interviewed maintained their walking routines. In addition, only 8% of the participants continued visiting family members as frequently as before. While 8% of the participants were refused some form of medical treatment, 56% claimed that they experienced healthcare delays. However,only 15% of the participants reported that their health status worsened during the pandemic. DISCUSSION: The pandemic has had a significant impact on Portuguese individuals aged ≥ 60 years; which is in agreement with the findings of previous international studies. It changed the participants' routines and increased their anxiety and depression levels. Despite the deterioration of healthcare services, most participants did not experience worsening of their health status. CONCLUSION: In conclusion, a COVID-19 pandemic had a significant impact on the elderly population, particularly regarding their mental health.

Introdução: Em março de 2020, a COVID-19 foi declarada pandemia pela Organização Mundial da Saúde e Portugal registou os seus primeiros casos. Este estudo visou determinar o impacto da COVID-19 na população portuguesa maior de 60 anos. Material e Métodos: Trata-se de um estudo observacional transversal que analisa várias variáveis de saúde, comportamentais, sociais e económicas. Utilizaram-se dados do projecto Survey of Health, Ageing and Retirement (SHARE 8: COVID-19 Survey), seleccionando uma amostra de 1080 portugueses não institucionalizados e maiores de 60 anos. Resultados: A amostra englobou 605 mulheres (56%) e 475 homens (44%), com idade média de 70 ± 9,1 anos. No total, 80% dos participantes notou aumento da ansiedade, 73% sentiu-se mais deprimido e 30% considerou que o seu sono piorou em relação ao período anterior à pandemia. Não houve diferenças estatisticamente significativas entre os sexos ou as duas faixas etárias analisadas (60 - 74 e ≥ 75 anos) quanto à incidência destas alterações. No respeitante a saídas de casa, apenas 23% dos entrevistados manteve os hábitos de passeio e 8% manteve as visitas a familiares no seu padrão habitual. Relativamente ao acesso a cuidados médicos, a 8% foi negado algum tratamento e 56% queixou-se do adiamento dos cuidados. Apenas 13% referiu um agravamento do seu estado de saúde durante a pandemia. Discussão: Este trabalho mostra que esta pandemia impactou a população portuguesa com mais de 60 anos, o que está em linha com o reportado noutros estudos internacionais. Os hábitos alteraram-se, e a ansiedade e depressão aumentaram. Apesar da deterioração dos cuidados de saúde, a maioria dos participantes não notou agravamento do seu estado de saúde. Conclusão: Em conclusão, a pandemia por COVID-19 teve um impacto significativo na população idosa particularmente no que concerne à sua saúde mental.