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1.
Front Neurol ; 14: 1163803, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37181555

RESUMO

Background: Mutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of DYNC1H1 and review the relevant literature to explore genotype-phenotype relationships. Case presentation: A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy. Brain magnetic resonance imaging (MRI) at 14 months-of-age revealed pachygyria. At 4 years-of-age, the patient exhibited severe developmental delay and mental retardation. A de novo heterozygous mutation (p.Arg292Trp) in the DYNC1H1 gene was identified. A search of multiple databases, including PubMed and Embase, using the search strategy DYNC1H1 AND [malformations of cortical development OR seizure OR intellectual OR clinical symptoms] up to June 2022, identified 129 patients from 43 studies (including the case presented herein). A review of these cases showed that patients with DYNC1H1-related MCD had higher risks of epilepsy (odds ratio [OR] = 33.67, 95% confidence interval [CI] = 11.59, 97.84) and intellectual disability/developmental delay (OR = 52.64, 95% CI = 16.27, 170.38). Patients with the variants in the regions encoding the protein stalk or microtubule-binding domain had the most prevalence of MCD (95%). Conclusion: MCD, particularly pachygyria, is a common neurodevelopmental disorder in patients with DYNC1H1 mutations. Literature searches reveales that most (95%) patients who carried mutations in the protein stalk or microtubule binding domains exhibited DYNC1H1-related MCD, whereas almost two-thirds of patients (63%) who carried mutations in the tail domain did not display MCD. Patients with DYNC1H1 mutations may experience central nervous system (CNS) manifestations due to MCD.

2.
BMC Psychiatry ; 21(1): 78, 2021 02 06.
Artigo em Inglês | MEDLINE | ID: mdl-33549084

RESUMO

BACKGROUND: Previous studies have revealed that single physical chronic condition was associated with suicidal ideation/plans, but few studies have examined the relationship between multimorbidity and suicidal ideation/plans, and no studies have explored the underlying potential mechanism on this relationship in China. This study aimed to explore association between physical multimorbidity and suicidal ideation as well as plans, and further examine the mediating role of psychological distress (PD) on this relationship. METHODS: This study was based on the data from a survey about the health service of rural elderly household in Shandong, China. A total of 3242 adults aged 60 years and older were included in this study. PD was measured by Kessler Psychological Distress Scale (K10). Ordinal and binary logistic regression analyses were employed to explore the association between physical multimorbidity, PD and suicide ideation/plans. Bootstrapping analysis was further used to examine the mediation effect of PD on the association of multimorbidity and suicidal ideations/plans. RESULTS: The prevalence of multimorbidity, lifetime suicidal ideation, and suicidal plan in rural older adults was 35.2, 10.6 and 2.2%, respectively. Older adults living in rural areas with two or more chronic physical conditions experienced significantly higher risk of suicidal ideation and suicidal plans. The association between multimorbidity and suicidal ideations/plans was partially mediated by PD, of which, the mediating effect of PD accounted for 31.7 and 25.5% of the total effect, respectively. CONCLUSION: This study demonstrated the associations between physical multimorbidity and suicidal ideation/plans, and the mediating role of PD on this relationship among Chinese rural elderly. Healthcare providers in rural community should provide regular surveillance for the mental health status among the rural elderly with multimorbidity, and carry out various effective intervention measures to improve the mental health status, so as to reduce the risk of suicide.


Assuntos
Angústia Psicológica , Ideação Suicida , Idoso , China/epidemiologia , Estudos Transversais , Humanos , Pessoa de Meia-Idade , Multimorbidade , Prevalência , Fatores de Risco , População Rural
3.
Int J Equity Health ; 20(1): 23, 2021 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-33413429

RESUMO

BACKGROUND: Previous studies have indicated that older adults with multimorbidity had higher risk of incurring catastrophic health expenditure (CHE). However, the effect of co-occurrence of frailty on CHE among single empty-nest elderly with multimorbidity remains unclear. This study aims to explore the effect of co-occurrence of frailty on CHE among single empty-nest elderly with multimorbidity, and whether this effect is moderated by economic status. METHODS: A cross-sectional household survey of the older adults in 2019 in Shandong province, China. A total of 606 single empty-nest elderly aged 60 years or older were included in this study. CHE was defined as the out-of-pocket payments for health care that equals or exceeds 40% of the household' s capacity to pay. Logistic regression models are employed to examine the effect of co-occurrence of frailty on CHE among single empty-nest elderly with multimorbidity. The interaction term is introduced to explore the economic status difference in this effect. RESULTS: The CHE incidence for single empty-nest elderly with multimorbidity alone is 64.2%, and the co-occurrence of frailty results in an increase by almost 1.3 times (84.0%) in CHE incidence among single empty-nest elderly with multimorbidity. The co-occurrence of frailty increases the risk of incurring CHE among the single empty-nest elderly with multimorbidity, with the odds of incurring CHE increased by 3.19 times (OR = 3.19; P = 0.005). Furthermore, the interaction analysis shows that the effect of co-occurrence of frailty on CHE among single empty-nest elderly with multimorbidity still exist in lower economic status groups (OR = 4.64; P = 0.027), but not in higher economic status (OR = 2.76; P = 0.062). CONCLUSIONS: This study demonstrates that there is a positive effect of co-occurrence of frailty on the CHE among the single empty-nest elderly with multimorbidity, and this effect varies by economic status. The health policy-makers should reorganize the healthcare system to make it pro-poor, so as to meet the multiple medical demand and reduce the potential economic burden and inequalities of older adults.


Assuntos
Doença Catastrófica/economia , Fragilidade/epidemiologia , Gastos em Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , População Rural/estatística & dados numéricos , Idoso , China/epidemiologia , Estudos Transversais , Características da Família , Fragilidade/economia , Nível de Saúde , Disparidades em Assistência à Saúde/economia , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Multimorbidade , Fatores Socioeconômicos
4.
Eur J Pediatr ; 172(12): 1641-7, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23887608

RESUMO

The clinical features and risk factors for recurrence of Kawasaki disease (KD) remain unclear. In order to summarize clinical features of recurrent KD and identify risk factors associated with recurrence, we conducted a retrospective review of the medical records of consecutive cases of KD from January 2002 to December 2010. Demographic, clinical, laboratory, and echocardiographic data were analyzed. The maximum coronary artery Z score normalized against body surface area was assessed using coronary artery diameters. At the first onset of recurrent KD, children had longer durations of fever before intravenous immunoglobulin (IVIG) treatment and higher levels of alanine aminotransferase, serum aspartate aminotransferase (AST), and lower hemoglobin levels than those with a single episode of KD. Multivariate logistic regression analysis showed that long durations of fever before IVIG treatment, high AST levels, and reduced hemoglobin levels were significantly associated with recurrent KD. Ten of the 22 recurrent KD children had coronary artery complications during the first onset episode, and six (60 %) of these also had coronary artery complications during the recurrence. Children with longer durations of fever, lower hemoglobin levels, and higher AST levels may be at increased risk for KD and coronary artery complications are more likely to occur in children with recurrent KD if they were present during the first episode.


Assuntos
Alanina Transaminase/análise , Aspartato Aminotransferases/análise , Proteína C-Reativa/análise , Vasos Coronários/fisiopatologia , Hemoglobinas/análise , Imunoglobulinas Intravenosas/administração & dosagem , Síndrome de Linfonodos Mucocutâneos/fisiopatologia , Sedimentação Sanguínea , Criança , Pré-Escolar , Vasos Coronários/diagnóstico por imagem , Ecocardiografia , Feminino , Humanos , Lactente , Modelos Logísticos , Síndrome de Linfonodos Mucocutâneos/metabolismo , Síndrome de Linfonodos Mucocutâneos/terapia , Curva ROC , Recidiva , Estudos Retrospectivos , Fatores de Risco
5.
Pediatr Infect Dis J ; 32(8): e319-23, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23446442

RESUMO

BACKGROUND: The purpose of this study was to develop a predictive scoring system to identify intravenous immunoglobulin resistance in children with Kawasaki disease, to implement additional therapies early in the course of their illness and prevent coronary artery lesions. METHODS: We performed a retrospective review of children with Kawasaki disease treated within 10 days of fever onset. To identify independent predictors of intravenous immunoglobulin resistance, multivariable logistic regression models were constructed using variables selected by univariable analysis. The independent predictors were combined into a new scoring system and compared with 2 existing systems. The discriminatory capacity of the scoring system was assessed using the area under the receiver operating characteristic curves. RESULTS: By logistic regression analysis, polymorphous exanthema, changes around the anus, days of illness at initial treatment, percentage of neutrophils, C-reactive protein levels, albumin levels, and total bilirubin proved to be independent predictors of intravenous immunoglobulin resistance. The new scoring system gave an area under the receiver operating characteristic curve of 0.672. In this scoring system, 2 risk strata were identified: low risk, with scores of 0-3, and high risk, with scores of ≥4. The sensitivity was 54.1% and the specificity was 71.2%. CONCLUSIONS: The new scoring system had a higher specificity and sensitivity for Chinese children, compared with the Kobayashi scoring system and the Egami scoring system, but, unfortunately, the new scoring system was not good enough to be widely used because of its low sensitivity.


Assuntos
Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Síndrome de Linfonodos Mucocutâneos/epidemiologia , Adolescente , Criança , Pré-Escolar , China/epidemiologia , Resistência a Medicamentos , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Curva ROC , Estudos Retrospectivos , Resultado do Tratamento
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