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1.
Mol Biol Rep ; 51(1): 736, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38874671

RESUMO

BACKGROUND: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. METHODS AND RESULTS: In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. CONCLUSIONS: We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.


Assuntos
Doenças do Cabelo , Fenótipo , Humanos , Feminino , Masculino , Lactente , Doenças do Cabelo/genética , Doenças do Cabelo/diagnóstico , Genótipo , Pré-Escolar , DNA Helicases/genética , Diarreia Infantil/genética , Diarreia Infantil/diagnóstico , Mutação/genética , Diarreia/genética , Diarreia/diagnóstico , Criança , Recém-Nascido , Retardo do Crescimento Fetal , Fácies
2.
Pediatr Res ; 94(4): 1341-1348, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37179436

RESUMO

BACKGROUND: The study's objective is to evaluate if Molsidomine (MOL), an anti-oxidant, anti-inflammatory, and anti-apoptotic drug, is effective in treating hyperoxic lung injury (HLI). METHODS: The study consisted of four groups of neonatal rats characterized as the Control, Control+MOL, HLI, HLI + MOL groups. Near the end of the study, the lung tissue of the rats were evaluated with respect to apoptosis, histopathological damage, anti-oxidant and oxidant capacity as well as degree of inflammation. RESULTS: Compared to the HLI group, malondialdehyde and total oxidant status levels in lung tissue were notably reduced in the HLI + MOL group. Furthermore, mean superoxide dismutase, glutathione peroxidase, and glutathione activities/levels in lung tissue were significantly higher in the HLI + MOL group as compared to the HLI group. Tumor necrosis factor-α and interleukin-1ß elevations associated with hyperoxia were significantly reduced following MOL treatment. Median histopathological damage and mean alveolar macrophage numbers were found to be higher in the HLI and HLI + MOL groups when compared to the Control and Control+MOL groups. Both values were increased in the HLI group when compared to the HLI + MOL group. CONCLUSIONS: Our research is the first to demonstrate that bronchopulmonary dysplasia may be prevented through the protective characteristics of MOL, an anti-inflammatory, anti-oxidant, and anti-apoptotic drug. IMPACT: Molsidomine prophylaxis significantly decreased the level of oxidative stress markers. Molsidomine administration restored the activities of antioxidant enzymes. Molsidomine prophylaxis significantly reduced the levels of inflammatory cytokines. Molsidomine may provide a new and promising therapy for BPD in the future. Molsidomine prophylaxis decreased lung damage and macrophage infiltration in the tissue.


Assuntos
Hiperóxia , Lesão Pulmonar , Ratos , Animais , Lesão Pulmonar/tratamento farmacológico , Lesão Pulmonar/etiologia , Lesão Pulmonar/prevenção & controle , Antioxidantes/metabolismo , Molsidomina/farmacologia , Molsidomina/uso terapêutico , Animais Recém-Nascidos , Ratos Wistar , Hiperóxia/patologia , Pulmão , Estresse Oxidativo , Oxidantes/farmacologia , Anti-Inflamatórios/farmacologia
3.
Minerva Pediatr (Torino) ; 75(5): 727-733, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32493001

RESUMO

BACKGROUND: In 12.5-56% of extremely low birth weight (ELBW) infants treated in newborn units, acute kidney injury (AKI) develops. Some of these infants may need renal replacement therapy for several reasons including hyperkalemia, hypovolemia and resistant acidosis. METHODS: All ELBW infants who were followed in our hospital between January 2015 and December 2017 and who lived longer than 48 hours were assessed. Patients were followed for AKI and peritoneal dialysis (PD). RESULTS: AKI developed in 25 of 201 ELBW infants. PD was administered to nine patients. PD was initiated at a median of 11 days (2-22 days) for all patients due to hyperkalemia which did not respond to medical treatment. Three of the nine infants who received PD died while dialysis was ongoing. The remaining six patients completed PD successfully. In these patients, the serum potassium value returned to normal in three days, and dialysis was continued for a median of 93 hours (40-172 hours). Dialysis leakage occurred in two patients, and hyperglycemia developed in two patients. On average, diuresis started at the 25th hour (8-40th hour). CONCLUSIONS: In the renal failure treatment of ELBW infants, PD is the only option which can be used for many units. It was found that in ELBW infants, who had wider peritoneal surface when compared to their body weight, biochemical values recovered rapidly with PD, and diuresis started a short while later in most patients.

4.
Cardiol Young ; 33(8): 1312-1315, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36472120

RESUMO

OBJECTIVE: We aimed to evaluate the efficacy of combined (ibuprofen+paracetamol) medical therapy in cases of persistent haemodynamically significant patent ductus arteriosus that are resistant to standard medical monotherapy (ibuprofen and/or paracetamol) in this retrospective multi-centre study. METHODS: The combined therapy included the administration of 15mg/kg/dose of paracetamol every 6 h for 3 days and ibuprofen at an initial dose of 10mg/kg/dose followed by 5 mg/kg/dose every 24 h. After 2 days following the administration of the last dose, the researchers evaluated the efficacy of combined treatment by conducting an echocardiographic examination. RESULTS: Of all 42 patients who received combined therapy, 37 (88.1%) patients exhibited closure of the haemodynamically significant patent ductus arteriosus without requiring surgical ligation. Patients who did not respond to combined therapy had a higher mean birth weight and gestational age compared to those who responded (p < 0.05). CONCLUSION: The researchers believe the success of ibuprofen and paracetamol in haemodynamically significant patent ductus arteriosus treatment may be due to their synergistic efficacy and inhibition of the prostaglandin synthesis pathway through different enzymes. The results of our retrospective trial suggest that combination therapy with paracetamol and ibuprofen can be attempted when monotherapy is unsuccessful in treating haemodynamically significant patent ductus arteriosus, especially in centres without a surgical department.


Assuntos
Acetaminofen , Permeabilidade do Canal Arterial , Ibuprofeno , Feminino , Humanos , Recém-Nascido , Masculino , Acetaminofen/uso terapêutico , Quimioterapia Combinada , Permeabilidade do Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/tratamento farmacológico , Ibuprofeno/uso terapêutico , Estudos Retrospectivos , Resultado do Tratamento , Ecocardiografia
5.
Turk J Med Sci ; 53(6): 1786-1793, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38813516

RESUMO

Background/aim: Hypoxic ischemic encephalopathy (HIE) is one of the common causes of mortality and morbidity in newborns. Despite therapeutic hypothermia, an important treatment with proven efficacy, the morbidity and mortality rates remain high. The aim of this study was to neurodevelopmentally evaluate patients who underwent therapeutic hypothermia. Material and method: Included herein were patients who underwent hypothermia between 2018 and 2020. Their medical files were reviewed retrospectively, and their demographic and clinical information was recorded. Patients whose contact information was available were called to the developmental pediatrics outpatient clinic for a neurodevelopmental evaluation. The Bayley Scales of Infant and Toddler Development 3rd Edition (Bayley-III) was used as the evaluation tool. Laboratory values and clinical parameters of the patients were further analyzed. Results: It was found that 42 patients underwent hypothermia in 3 years, of whom 14 (33.3%) had died. Of the 28 patients who were discharged, 20 children could be reached, and a neurodevelopmental evaluation was performed. Developmental delay in the cognitive area was detected in 11 (55%) patients, delay in the language area was found in 9 (45%) patients, and delay in the motor area was found in 11 (55%) patients. The correlation and regression analysis results determined that the time to start cooling was the most effective common factor in all 3 fields of scoring. Conclusion: The time to start cooling is related to the neurodevelopmental outcomes of patients with HIE. The earlier cooling is started, the better the neurodevelopmental results. Despite therapeutic hypothermia, the neurodevelopmental development of infants may be adversely affected. These patients should be followed-up neurodevelopmentally for a long time.


Assuntos
Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Humanos , Hipóxia-Isquemia Encefálica/terapia , Hipóxia-Isquemia Encefálica/diagnóstico , Hipotermia Induzida/métodos , Masculino , Feminino , Recém-Nascido , Estudos Retrospectivos , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Lactente , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia
6.
Turk J Med Sci ; 52(3): 796-802, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36326343

RESUMO

BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) is a condition that may cause multiple organ dysfunction and has a high rate of mortality and morbidity. Therapeutic hypothermia is the only proven treatment that decreases the sequel and mortality rate of neonates that are born after 36 weeks of pregnancy and have moderate-severe HIE. METHODS: Our study was a single-center, retrospective study that includes newborns (gestational age ≥ 36 weeks) who underwent therapeutic hypothermia due to hypoxic-ischemic encephalopathy between 2010 and 2020. We evaluated 125 patients who were diagnosed with moderate to severe HIE and received therapeutic hypothermia. Demographic and clinical data were obtained from electronic medical records and patient files. The patients were separated into two groups as exitus group (n = 39) and discharged group (n = 86). We aimed to evaluate factors affecting mortality. RESULTS: We determined that the median resuscitation times were longer in the delivery room [retrospectively, 10th minutes (0-30) vs. 1 min (0-20), p < 0.05], the tenth min APGAR scores were lower [respectively, 4 (0-7) vs. 6 (3-10), p < 0.05], and the median pH value in the first blood gas taken was lower [respectively, 6.87 (6.4-7.14) vs. 6.90 (6.58-7.12), p < 0.05] in the exitus group. We also determined that multiple organ dysfunction is seen more often in the exitus group. DISCUSSION: This study demonstrated that the depth of acidosis in the blood gas, multiple organ dysfunction, and the existence of early-onset seizures are the signs of poor prognosis. Therefore, physicians need to be aware of such prognostic factors to follow these patients more closely in terms of possible complications and to inform their parents.


Assuntos
Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Gravidez , Feminino , Humanos , Recém-Nascido , Lactente , Hipóxia-Isquemia Encefálica/terapia , Hipóxia-Isquemia Encefálica/diagnóstico , Estudos Retrospectivos , Insuficiência de Múltiplos Órgãos , Hipotermia Induzida/efeitos adversos , Índice de Apgar
8.
Funct Integr Genomics ; 22(3): 359-369, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35260975

RESUMO

Congenital diaphragmatic hernia (CDH) is an anomaly characterized by a defect in the diaphragm, leading to the passage of intra-abdominal organs into the thoracic cavity. Herein, the presented work analyzes the global gene expression profiles in nine CDH and one healthy newborn. All of the patients had left posterolateral (Bochdalek) diaphragmatic hernia, operated via an abdominal approach, and stomach and bowels in the thorax cavity. Some patients also had additional anomalies. A total of 560 differentially regulated genes were measured. Among them, 11 genes showed significant changes in expression associated with lung tissue, vascular structure development, and vitamin A metabolism, which are typical ontologies related to CDH etiology. Among them, SLC25A24 and RAB3IL1 are involved in angiogenesis, HIF1A and FOXC2-AS1 are related with the alveolus, MAGI2-AS3 is associated with the diaphragm, LHX4 and DHH are linked with the lung, and BRINP1, FZD9, WNT4, and BLOC1S1-RDH5 are involved in retinol. Besides, the expression levels of some previously claimed genes with CDH etiology also showed diverse expression patterns in different patients. All these indicated that CDH is a complex, multigenic anomaly, requiring holistic approaches for its elucidation.


Assuntos
Hérnias Diafragmáticas Congênitas , Diafragma , Perfilação da Expressão Gênica , Hérnias Diafragmáticas Congênitas/genética , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Recém-Nascido , Análise em Microsséries , Proteínas do Tecido Nervoso
9.
Pediatr Pulmonol ; 57(1): 109-121, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34581514

RESUMO

AIM: Inflammation and oxidate stress are significant factors in the pathogenesis of bronchopulmonary dysplasia (BPD). The aim of this study is to investigate the efficacy of apocynin (APO), an anti-inflammatory, antioxidant, and antiapoptotic drug, in the prophylaxis of neonatal hyperoxic lung injury. METHOD: This experimental study included 40 neonatal rats divided into the control, APO, BPD, and BPD + APO groups. The control and APO groups were kept in a normal room environment, while the BPD and BPD + APO groups were kept in a hyperoxic environment. The rats in the APO and BPD + APO groups were administered intraperitoneal APO, while the control and BPD rats were administered ordinary saline. At the end of the trial, lung tissue was evaluated with respect to the degree of histopathological injury, apoptosis, oxidant and antioxidant capacity, and severity of inflammation. RESULT: The BPD and BPD + APO groups exhibited higher mean histopathological injury and alveolar macrophage scores compared to the control and APO groups. Both scores were lower in the BPD + APO group in comparison to the BPD group. The BPD + APO group had a significantly lower average of TUNEL positive cells than the BPD group. The lung tissue examination indicated significantly higher levels of mean malondialdehyde (MDA), total oxidant status (TOS), tumor necrosis factor-α (TNF-α), and interleukin-1ß (IL-1ß) in the BPD group compared to the control and APO groups. While the TNF-α and IL-1ß levels of the BPD + APO group were similar to that of the control group, the MDA and TOS levels were higher compared to the controls and lower compared to the BPD group. The BPD group demonstrated significantly lower levels/activities of mean total antioxidant status, glutathione reductase, superoxide dismutase, glutathione peroxidase in comparison to the control and APO groups. While the mean antioxidant enzyme activity of the BPD + APO group was lower than the control group, it was significantly higher compared to the BPD group. CONCLUSION: This is the first study in the literature to reveal through an experimental neonatal hyperoxic lung injury that APO, an anti-inflammatory, antioxidant, and antiapoptotic drug, exhibits protective properties against the development of BPD.


Assuntos
Hiperóxia , Lesão Pulmonar , Acetofenonas , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Hiperóxia/complicações , Pulmão , Lesão Pulmonar/tratamento farmacológico , Lesão Pulmonar/etiologia , Lesão Pulmonar/prevenção & controle , Estresse Oxidativo , Ratos , Ratos Wistar
11.
Int Immunopharmacol ; 99: 108033, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34343938

RESUMO

BACKGROUND: Oxidative stress and inflammation play a critical role in the etiopathogenesis of bronchopulmonary dysplasia (BPD). The aim of this study was to evaluate the preventive effect of Chrysin (CH), an antioxidant, antiinflammatory, antiapoptotic and antifibrotic drug, on hyperoxia-induced lung injury in a neonatal rat model. METHODS: Forty infant rats were divided into four groups labeled the Control, CH, BPD, and BPD + CH. The control and CH groups were kept in a normal room environment, while the BPD and BPD + CH groups were kept in a hyperoxic (90-95%) environment. At the end of the study, lung tissue was evaluated with respect to apoptosis, histopathological damage and alveolar macrophage score as well as oxidant capacity, antioxidant capacity, and inflammation. RESULTS: Compared to the BPD + CH and control groups, the lung tissues of the BPD group displayed substantially higher levels of MDA, TOS, TNF-α, and IL-1ß (p < 0.05). While the BPD + CH group showed similar levels of TNF-α and IL-1ß as the control group, MDA and TOS levels were higher than the control group, and significantly lower than the BPD group (p < 0.05). The BPD group exhibited considerably lower levels of TAS, SOD, GSH, and GSH-Px in comparison to the control group (p < 0.05). The BPD and BPD + CH groups exhibited higher mean scores of histopathological damage and alveolar macrophage when compared to the control and CH groups (p ≤ 0.0001). Both scores were found to be lower in the BPD + CH group in comparison to the BPD group (p ≤ 0.0001). The BPD + CH group demonstrated a significantly lower average of TUNEL and caspase-3 positive cells than the BPD group. CONCLUSION: We found that prophylaxis with CH results in lower histopathological damage score and reduces apoptotic cell count, inflammation and oxidative stress while increasing anti-oxidant capacity.


Assuntos
Antioxidantes/farmacologia , Flavonoides/farmacologia , Hiperóxia , Lesão Pulmonar/prevenção & controle , Estresse Oxidativo/efeitos dos fármacos , Animais , Animais Recém-Nascidos , Antioxidantes/uso terapêutico , Apoptose/efeitos dos fármacos , Displasia Broncopulmonar/etiologia , Displasia Broncopulmonar/metabolismo , Displasia Broncopulmonar/patologia , Displasia Broncopulmonar/prevenção & controle , Caspase 3/metabolismo , Modelos Animais de Doenças , Flavonoides/uso terapêutico , Glutationa Peroxidase/metabolismo , Glutationa Redutase/metabolismo , Hiperóxia/induzido quimicamente , Interleucina-1beta/metabolismo , Lesão Pulmonar/etiologia , Lesão Pulmonar/metabolismo , Lesão Pulmonar/patologia , Macrófagos Alveolares/metabolismo , Malondialdeído/metabolismo , Oxidantes/metabolismo , Oxigênio/efeitos adversos , Ratos Wistar , Superóxido Dismutase/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
12.
J Matern Fetal Neonatal Med ; 34(12): 1868-1874, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31394948

RESUMO

PURPOSE: In this study, we compared the efficacy of the RAM cannula and the short binasal prong (SBP) as noninvasive ventilation (NIV) interfaces in preterm infants with respiratory distress syndrome (RDS). MATERIALS AND METHODS: Premature infants with RDS who required NIV were randomized in the RAM cannula and SBP groups within the first half hour. The groups were compared in terms of their need for invasive ventilation, their surfactant use, and their morbidities. RESULTS: We assessed 126 patients (62 SBPs and 64 RAM cannulas). Clinical and demographic features of the groups were similar. Within the first 72 hours, the RAM cannula group showed a higher need for invasive ventilation (32.8 and 9.6%, p = .002, respectively), surfactant (42.1 and 19.3%, p = .007, respectively), and rate of pulmonary hemorrhage was also higher. There were no differences between the groups in terms of other morbidities. CONCLUSIONS: In preterm infants with RDS, RAM cannula use as an interface for NIV results in increased invasive ventilation and surfactant use.


Assuntos
Ventilação não Invasiva , Surfactantes Pulmonares , Síndrome do Desconforto Respiratório do Recém-Nascido , Cânula , Pressão Positiva Contínua nas Vias Aéreas , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Surfactantes Pulmonares/uso terapêutico , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológico
13.
Front Pediatr ; 8: 434, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32850547

RESUMO

No consensus has been reached on which patent ductus arteriosus (PDAs) in preterm infants require treatment and if so, how, and when they should be treated. A prospective, multicenter, cohort study was conducted to compare the effects of conservative approaches and medical treatment options on ductal closure at discharge, surgical ligation, prematurity-related morbidities, and mortality. Infants between 240/7 and 286/7 weeks of gestation from 24 neonatal intensive care units were enrolled. Data on PDA management and patients' clinical characteristics were recorded prospectively. Patients with moderate-to-large PDA were compared. Among the 1,193 enrolled infants (26.7 ± 1.4 weeks and 926 ± 243 g), 649 (54%) had no or small PDA, whereas 544 (46%) had moderate-to-large PDA. One hundred thirty (24%) infants with moderate-to-large PDA were managed conservatively, in contrast to 414 (76%) who received medical treatment. Eighty (62%) of 130 infants who were managed conservatively did not receive any rescue treatment and the PDA closure rate was 53% at discharge. There were no differences in the rates of late-onset sepsis, necrotizing enterocolitis (NEC), retinopathy of prematurity, intraventricular hemorrhage (≥Grade 3), surgical ligation, and presence of PDA at discharge between conservatively-managed and medically-treated infants (p > 0.05). Multivariate analysis including perinatal factors showed that medical treatment was associated with increased risk for mortality (OR 1.68, 95% Cl 1.01-2.80, p = 0.046), but decreased risk for BPD or death (BPD/death) (OR 0.59, 95%Cl 0.37-0.92, p = 0.022). The preferred treatment options were ibuprofen (intravenous 36%, oral 31%), and paracetamol (intravenous 26%, oral 7%). Infants who were treated with oral paracetamol had higher rates of NEC and mortality in comparison to other treatment options. Infants treated before postnatal day 7 had higher rates of mortality and BPD/death than infants who were conservatively managed or treated beyond day 7 (p = 0.009 and 0.007, respectively). In preterm infants born at <29 weeks of gestation with moderate-to-large PDA, medical treatment did not show any reduction in the rates of open PDA at discharge, surgical or prematurity-related secondary outcomes. In addition to the high incidence of spontaneous closure of PDA in the first week of life, early treatment (<7 days) was associated with higher rates of mortality and BPD/death.

14.
J Sports Med Phys Fitness ; 60(12): 1576-1582, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32639118

RESUMO

BACKGROUND: Due to the lack of precise research data related to the evaluation of the physical activity level (PAL) among obese individuals, the aims of the study were to evaluate declared and real volume of physical activity, and to assess the correlations between these methods. METHODS: The study consisted of 30 female (Mage=32.9±7.3 years) and 16 male (Mage=36.4±8.4 years) a total of 46 obese volunteer individuals were included (Mbmi: 37.6±6.6 kg/m2, Mbmi: 34.2±4.3 kg/m2; body fat percentage: 42.1% and 35.2%, respectively). A cross-sectional study was conducted on the obese people. The information form was prepared for obese individuals who applied the Health Institutions and body composition measurements were performed with Tanita BC-1000. PAL was assessed objectively by a Sense Wear Armband (SWA) for 7 consecutive days- and seven day later the participants fill out the International Physical Activity Questionnaire - Short Form (IPAQ-SF). For statistical analysis, the data were presented as mean values, Standard deviations (SD), frequency (f), and percentage (%). Spearman's Rho Correlation were used, and the significant level was P<0.05. RESULTS: According to IPAQ and SWA, 69.6% (10.9% plus 58.7%) of the participants (N.=32) estimated activity levels as "correct." The PAL of 30.4% (N.=14) of the participants does not seem to be consistent. According to the IPAQ and SWA, the rates of moderate-vigorous physical activity (MVPA) were 80.4%, 67.4% respectively. Weak correlation was found-between IPAQ-MET and SWA-step/day and SWA-MET respectively (r(s)=0.381; 0.410 (P<0.01). CONCLUSIONS: Physical activity level being assessed by a subjective method was different from the objective method in obese individuals. In addition to this, sample groups and limitations should be taken into consideration when determining suitable methods.


Assuntos
Acelerometria , Exercício Físico , Obesidade/psicologia , Inquéritos e Questionários/normas , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
15.
J Matern Fetal Neonatal Med ; 33(7): 1197-1202, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30149743

RESUMO

Introduction: In this study, we aimed to define the incidence and time to detection of late onset hyponatremia (LOH) as well as factors affecting its development in preterm newborns. We also aimed to determine the daily sodium requirement of these patients.Methods: We studied a total of 145 very low birth weight infants with a full or nearly full enteral diet and followed them up until discharge. We recorded demographic and clinic characteristics. We measured serum sodium (SNa) levels at least once a week after the second week. We compared infants with LOH with other infants to analyze possible risk factors.Results: Twenty-nine (20%) infants developed LOH in an average of 23.4 ± 7.8 days. The mean SNa level of these infants was 124.6 ± 5.6 mmol/L. Logistic regression analysis showed that a birth weight of less than 1000 g, preterm early membrane rupture, and nutrition with fortified human milk alone were risk factors for LOH. The mean daily amount of sodium added to the nutrition of hyponatremic preterm infants was 3.6 ± 2.1 mmol/L. Subgroup analysis showed that the incidence of LOH was two times higher (39.2%) in infants with a birth weight of less than 1000 g.Conclusion: We observed the development of LOH within three to four weeks in nearly half of preterm infants fed with fortified human milk, especially those with a birth weight of less than 1000 g. We believe that the sodium content of currently used human milk fortifiers should be increased.


Assuntos
Hiponatremia/etiologia , Sódio na Dieta/administração & dosagem , Idade de Início , Suplementos Nutricionais , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Masculino
16.
Int J Prev Med ; 10: 196, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31772728

RESUMO

BACKGROUND: Avoiding hyperoxia with oxygen saturation monitoring is important in the follow-up of very low birth weight (VLBW) infants. Role of oxygen-derived free radicals in the pathogenesis of necrotizing enterocolitis (NEC) has been well defined. However, a great majority of the evidence supporting the role of hyperoxia in NEC development are data from experimental studies and there are very few clinical studies. In this study, the association between NEC and average oxygen saturation (SpO2) levels in VLBW infants was researched. METHODS: Average SpO2 values of VLBW infants in the last 24 h were recorded prospectively with pulse oximeter. Average SpO2 records were continued at least for 10 days starting from the first day after birth. In the follow-up, the average SpO2 values of the patients who developed NEC and those who did not were compared. RESULTS: A total of 127 VLBW infants were followed up. Thirteen patients developed NEC (Bell's classification ≥ stage II). No differences were found between the average SpO2 levels (94.9 and 94.8%) of the patients who developed NEC and those who did not. It was found that average SpO2 value higher than 93 or 95 was not a risk for NEC development (P = 0.693 and P = 0.771). CONCLUSIONS: In this study, no association was found between average SpO2 values recorded in the first weeks of VLBW infants and NEC.

17.
Clin Dysmorphol ; 28(2): 63-65, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30640789

RESUMO

FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.


Assuntos
Cútis Laxa/genética , Proteínas da Matriz Extracelular/genética , Adulto , Cútis Laxa/fisiopatologia , Análise Mutacional de DNA , Éxons , Proteínas da Matriz Extracelular/fisiologia , Família , Feminino , Homozigoto , Humanos , Lactente , Masculino , Mutação , Linhagem
18.
Pediatr Neonatol ; 60(2): 192-196, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30055960

RESUMO

BACKGROUND: To compare outcomes of extremely low birth weight (ELBW) infants having different weight losses in the first 3 days of life. METHODS: One hundred and twenty six ELBW infants were evaluated retrospectively for weight loss percentages on the third day of life compared to their birth weight. We examined the weight loss on the third day of life compared to the birth weight for the ELBW infants and tested its association with mortality and morbidities. The mortality was subgrouped as overall mortality and mortality in the first 7 days of life. The morbidities were patent ductus arteriosus (PDA), intraventricular hemorrhage (IVH) and bronchopulmonary dysplasia (BPD). BPD was defined as need for supplemental oxygen at 36 weeks' postconceptional age. We grouped the infants into four quartiles according to weight loss percentage on the third day of life: Group 1 (Quartile 1), infants with weight loss of 0-3% of birth weight; Group 2 (Quartile 2); infants with weight loss of 3.1-7.5%, Group 3 (Quartile 3), infants with weight loss of 7.51-12%; and Group 4 (Quartile 4), infants with weight loss of more than 12%. The mortality and morbidities were analyzed according to these groups and other risk factors. RESULTS: Overall mortality and mortality in the first 7 days of life were significantly higher in Groups 1 (36% and 27%) and 4 (43% and 24%), compared to Groups 2 (10% and 10%) and 3 (18% and 9%), respectively. CONCLUSION: Weight loss less than 3% and more than 12% was significantly associated with an increase in mortality. There was a positive correlation between weight loss on the third day of life and IVH. CONCLUSION: Inappropriate weight loss in ELBW infants is associated with increased mortality and IVH. Appropriate weight loss can improve outcomes in this population.


Assuntos
Recém-Nascido de Peso Extremamente Baixo ao Nascer/crescimento & desenvolvimento , Redução de Peso , Displasia Broncopulmonar/mortalidade , Hemorragia Cerebral/mortalidade , Permeabilidade do Canal Arterial/mortalidade , Feminino , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Masculino , Estudos Retrospectivos
19.
Pediatr Gastroenterol Hepatol Nutr ; 21(4): 341-346, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30345249

RESUMO

Gastric hemangiomas are rare benign vascular tumors that can cause severe gastrointestinal system bleeding. We presented the case of a neonate with fresh bleeding and melena from the orogastric tube and detected gastric hemangioma in esophagogastroduodenoscopic examination. Propranolol is widely used in treatment of cutaneous hemangiomas and non-gastric gastrointestinal system hemangiomas. However, the surgical approach is preferred for treating gastric hemangiomas, and there are few reports of gastric hemangiomas associated with non-surgical treatment. Gastric hemorrhage decreased with antacid and somatostatin treatment. Propranolol treatment was initiated before the surgery decision. After three weeks of treatment, we observed regression in the hemangioma with endoscopic evaluation. During the course of treatment, the patient's gastrointestinal system bleeding did not recur, and there were no side effects associated with propranolol.

20.
J Neurosurg Pediatr ; 21(6): 597-600, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29521607

RESUMO

Cerebrospinal fluid leakage following meningomyelocele surgery is a frequent complication in the wound-healing period and is associated with wound dehiscence. CSF loss can cause severe hyponatremia, especially in the newborn and early infancy periods when dietary sodium content is relatively low. Hyponatremia in the newborn period can result in adverse neurodevelopmental outcomes. In addition, hyponatremia's cerebral effects can increase complications in neurosurgery patients. The authors present the case of a newborn in whom CSF leakage from the operative site and severe hyponatremia developed following meningomyelocele surgery. To the best of their knowledge, severe hyponatremia caused by CSF leakage after meningomyelocele surgery has not been previously reported in the literature.


Assuntos
Vazamento de Líquido Cefalorraquidiano/etiologia , Hiponatremia/etiologia , Complicações Pós-Operatórias/fisiopatologia , Vazamento de Líquido Cefalorraquidiano/diagnóstico por imagem , Feminino , Humanos , Hiponatremia/diagnóstico por imagem , Recém-Nascido , Meningomielocele/diagnóstico por imagem , Meningomielocele/cirurgia , Procedimentos Neurocirúrgicos/efeitos adversos , Complicações Pós-Operatórias/diagnóstico por imagem , Tomógrafos Computadorizados
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