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1.
Am J Med Genet A ; : e63792, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38884184

RESUMO

This study investigates the long-term outcomes of palliative and definitive surgeries for esophageal atresia (EA) in patients with trisomy 18 syndrome. A retrospective study included 25 cases undergoing EA surgery at our center between 2008 and 2022. The Palliative group (n = 16) comprised 13 cases with esophageal banding and 3 with tracheoesophageal fistula (TEF) division. The Definitive group (n = 9) included 5 cases with primary repair and 4 with staged repair following TEF division. The patient characteristics exhibited no significant differences between the groups. In the Definitive group, 56% (5/9) were successfully weaned off mechanical ventilation, compared with none in the Palliative group (p = 0.002). Survival-to-discharge rates were 31% (5/16) in the Palliative group and 67% (6/9) in the Definitive group. Home ventilator management was required for all 5 cases that required ventilation in the Palliative group, whereas only 17% (1/6) in the Definitive group needed it. The Palliative group also required continuous oral suction for persistent saliva removal, with two cases undergoing laryngotracheal separation. Overall, definitive surgery for EA in patients with trisomy 18 syndrome may provide enhanced respiratory stability, thereby improving the survival-to-discharge rate and overall quality of life for patients and their families.

2.
Am J Med Genet A ; 191(11): 2736-2742, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37658587

RESUMO

In this retrospective cohort study, we investigated the impact of tracheostomies on the long-term survival of children with trisomy 13 syndrome at a Japanese tertiary pediatric center. We compared survival and survival to discharge rates between patients who underwent tracheostomies during their NICU stays (T group, n = 8) and those who did not (non-T group, n = 11). A total of 19 patients enrolled. Median survival in all patients was 673 (266-1535) days. Significant differences in the 1-, 2-, and 3-year survival rates were found between the T and the non-T groups (100% vs. 46%, p = 0.018; 88% vs. 18%, p = 0.006; 63% vs. 9%, p = 0.041, respectively). The survival to discharge rate was higher in the T versus non-T group (75% vs. 45%, p = 0.352). This study highlights a significantly higher long-term survival of patients with trisomy 13 syndrome who underwent tracheostomies during their NICU stays.

3.
Am J Med Genet A ; 188(4): 1048-1055, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34889030

RESUMO

The effects of medical and surgical interventions on the survival of patients with trisomy 18 have been reported, leading to changes in perinatal management and decision-making. However, few studies have fully reported the recent changes in survival and treatment of trisomy 18. We examined how treatment and survival of patients with trisomy 18 have changed over a decade in a Japanese pediatric tertiary referral center. This retrospective cohort study included patients with trisomy 18 who were admitted within the first 7 days of life at the Hyogo Prefectural Kobe Children's Hospital between 2008 and 2017. The patients were divided into early period (EP) and late period (LP) groups based on the birth year of 2008-2012 and 2013-2017, respectively. Changes in treatment and survival rates were compared between the two groups. A total of 56 patients were studied (29 in the EP group and 27 in the LP group). One-year survival rates were 34.5% and 59.3% in the EP and LP groups, respectively. The survival to discharge rate significantly increased from 27.6% in the EP group to 81.5% in the LP group (p < 0.001). The proportion of patients receiving surgery, especially for congenital heart defects, significantly increased from 59% in the EP group to 96% in the LP group (p = 0.001). In our single-center study, survival and survival to discharge were significantly improved in patients with trisomy 18, probably because of increased rate of surgical interventions. These findings may facilitate better decision-making by patients' families and healthcare providers.


Assuntos
Cardiopatias Congênitas , Criança , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Alta do Paciente , Gravidez , Estudos Retrospectivos , Taxa de Sobrevida , Trissomia/genética , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética
10.
Nutrients ; 13(2)2021 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-33567701

RESUMO

The aim of this study was to investigate the effects of 24-week synbiotic supplementation on chronic inflammation and the gut microbiota in obese patients with type 2 diabetes. We randomized 88 obese patients with type 2 diabetes to one of two groups for 24 weeks: control or synbiotic (Lacticaseibacillus paracasei strain Shirota (previously Lactobacillus casei strain Shirota) and Bifidobacterium breve strain Yakult, and galactooligosaccharides). The primary endpoint was the change in interleukin-6 from baseline to 24 weeks. Secondary endpoints were evaluation of the gut microbiota in feces and blood, fecal organic acids, high-sensitivity C-reactive protein, lipopolysaccharide-binding protein, and glycemic control. Synbiotic administration for 24 weeks did not significantly affect changes in interleukin-6 from baseline to 24 weeks (0.35 ± 1.99 vs. -0.24 ± 1.75 pg/mL, respectively). Relative to baseline, however, at 24 weeks after synbiotic administration there were positive changes in the counts of Bifidobacterium and total lactobacilli, the relative abundances of Bifidobacterium species such as Bifidobacterium adolescentis and Bifidobacterium pseudocatenulatum, and the concentrations of acetic and butyric acids in feces. No significant changes in inflammatory markers were found in the synbiotic group compared to the control group. However, synbiotic administration at least partially improved the gut environment in obese patients with type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2/microbiologia , Microbioma Gastrointestinal/fisiologia , Obesidade/microbiologia , Simbióticos/administração & dosagem , Idoso , Bifidobacterium breve , Proteína C-Reativa/análise , Doença Crônica , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Fezes/microbiologia , Feminino , Humanos , Inflamação , Mediadores da Inflamação/sangue , Lacticaseibacillus casei , Masculino , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/complicações , Resultado do Tratamento
11.
PLoS One ; 14(9): e0222598, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31536546

RESUMO

OBJECTIVE: To explore clinical factors associated with bacterial translocation in Japanese patients with type 2 diabetes mellitus (T2DM). METHODS: The data of 118 patients with T2DM were obtained from two previous clinical studies, and were retrospectively analyzed regarding the clinical parameters associated with bacterial translocation defined as detection of bacteremia and levels of plasma lipopolysaccharide binding protein (LBP), the latter of which is thought to reflect inflammation caused by endotoxemia. RESULTS: LBP level was not significantly different between patients with and without bacteremia. No clinical factors were significantly correlated with the detection of bacteremia. On the other hand, plasma LBP level was significantly correlated with HbA1c (r = 0.312), fasting blood glucose (r = 0.279), fasting C-peptide (r = 0.265), body mass index (r = 0.371), high-density lipoprotein cholesterol (r = -0.241), and inflammatory markers (high-sensitivity C-reactive protein, r = 0.543; and interleukin-6, r = 0.456). Multiple regression analysis identified body mass index, HbA1c, high-sensitivity C-reactive protein, and interleukin-6 as independent determinants of plasma LBP level. CONCLUSION: The plasma LBP level was similar in patients with and without bacteremia. While both bacteremia and LBP are theoretically associated with bacterial translocation, the detection of bacteremia was not associated with LBP level in T2DM.


Assuntos
Translocação Bacteriana/fisiologia , Diabetes Mellitus Tipo 2/microbiologia , Proteínas de Fase Aguda , Povo Asiático , Biomarcadores/sangue , Peptídeo C/sangue , Proteína C-Reativa/metabolismo , Proteínas de Transporte/sangue , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/metabolismo , Endotoxemia/sangue , Endotoxemia/metabolismo , Endotoxemia/microbiologia , Feminino , Humanos , Inflamação/sangue , Inflamação/metabolismo , Inflamação/microbiologia , Interleucina-6/sangue , Masculino , Glicoproteínas de Membrana/sangue , Pessoa de Meia-Idade , Estudos Retrospectivos
13.
Clin Chim Acta ; 374(1-2): 129-34, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16857181

RESUMO

BACKGROUND: It is now well established that vascular inflammation and endothelial dysfunction associated with cardiovascular diseases contributes to insulin resistance. METHODS: We investigated the relationship between the homeostasis model assessment-insulin resistance index (HOMA-R) and various serum inflammatory markers and the effect of losartan on serum concentrations of these markers in patients with type 2 diabetes and hypertension. The patients were divided into 2 groups according to the value of HOMA-R with 60 patients with values=2.4 in Group A and 44 patients with values>2.5 in Group B. The variables were measured at baseline and after 6 months of treatment with losartan (50 mg/day). RESULTS: The HOMA-R concentrations were positively related to TNF-alpha (r=0.336, P<0.01) and inversely related to adiponectin (r=-0.405, P<0.01) and extracellular-superoxide dismutase (EC-SOD) (r=-0.452, P<0.01). Stepwise multiple regression analysis showed a significant relationship between HOMA-R and adiponectin (F=8.74) and EC-SOD (F=14.39). In Group B, losartan treatment significantly increased the serum concentrations of EC-SOD and adiponectin and decreased TNF-alpha and HOMA-R. CONCLUSION: Serum EC-SOD concentrations may be a sensitive biochemical marker of insulin resistance in patients with type 2 diabetes and hypertension and that losartan improves insulin sensitivity by increasing EC-SOD and adiponectin production and decreasing TNF-alpha production.


Assuntos
Anti-Inflamatórios/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipertensão/tratamento farmacológico , Inflamação/tratamento farmacológico , Resistência à Insulina , Losartan/uso terapêutico , Biomarcadores/sangue , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Humanos , Hipertensão/complicações , Hipertensão/fisiopatologia , Inflamação/sangue , Masculino
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