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Understanding the mechanisms underlying alcohol metabolism and its regulation, including the effect of polymorphisms in alcohol-metabolizing enzymes, is crucial for research on Fetal Alcohol Spectrum Disorders. The aim of this study was to identify specific single nucleotide polymorphisms in key alcohol-metabolizing enzymes in a cohort of 71 children, including children with fetal alcohol syndrome, children prenatally exposed to ethanol but without fetal alcohol spectrum disorder, and controls. We hypothesized that certain genetic variants related to alcohol metabolism may be fixed in these populations, giving them a particular alcohol metabolism profile. In addition, the difference in certain isoforms of these enzymes determines their affinity for alcohol, which also affects the metabolism of retinoic acid, which is key to the proper development of the central nervous system. Our results showed that children prenatally exposed to ethanol without fetal alcohol spectrum disorder traits had a higher frequency of the ADH1B*3 and ADH1C*1 alleles, which are associated with increased alcohol metabolism and therefore a protective factor against circulating alcohol in the fetus after maternal drinking, compared to FAS children who had an allele with a lower affinity for alcohol. This study also revealed the presence of an ADH4 variant in the FAS population that binds weakly to the teratogen, allowing increased circulation of the toxic agent and direct induction of developmental abnormalities in the fetus. However, both groups showed dysregulation in the expression of genes related to the retinoic acid pathway, such as retinoic acid receptor and retinoid X receptor, which are involved in the development, regeneration, and maintenance of the nervous system. These findings highlight the importance of understanding the interplay between alcohol metabolism, the retinoic acid pathway and genetic factors in the development of fetal alcohol syndrome.
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Alcohol Deshidrogenasa , Trastornos del Espectro Alcohólico Fetal , Polimorfismo de Nucleótido Simple , Receptores de Ácido Retinoico , Humanos , Trastornos del Espectro Alcohólico Fetal/genética , Trastornos del Espectro Alcohólico Fetal/metabolismo , Estudios de Casos y Controles , Femenino , Alcohol Deshidrogenasa/genética , Alcohol Deshidrogenasa/metabolismo , Masculino , Receptores de Ácido Retinoico/genética , Receptores de Ácido Retinoico/metabolismo , Niño , Etanol/metabolismo , Embarazo , Preescolar , AlelosRESUMEN
Introduction: Fetal alcohol spectrum disorders include a variety of physical and neurocognitive disorders caused by prenatal alcohol exposure. Although their overall prevalence is around 0.77%, FASD remains underdiagnosed and little known, partly due to the complexity of their diagnosis, which shares some symptoms with other pathologies such as autism spectrum, depression or hyperactivity disorders. Methods: This study included 73 control and 158 patients diagnosed with FASD. Variables selected were based on IOM classification from 2016, including sociodemographic, clinical, and psychological characteristics. Statistical analysis included Kruskal-Wallis test for quantitative factors, Chi-square test for qualitative variables, and Machine Learning (ML) algorithms for predictions. Results: This study explores the application ML in diagnosing FASD and its subtypes: Fetal Alcohol Syndrome (FAS), partial FAS (pFAS), and Alcohol-Related Neurodevelopmental Disorder (ARND). ML constructed a profile for FASD based on socio-demographic, clinical, and psychological data from children with FASD compared to a control group. Random Forest (RF) model was the most efficient for predicting FASD, achieving the highest metrics in accuracy (0.92), precision (0.96), sensitivity (0.92), F1 Score (0.94), specificity (0.92), and AUC (0.92). For FAS, XGBoost model obtained the highest accuracy (0.94), precision (0.91), sensitivity (0.91), F1 Score (0.91), specificity (0.96), and AUC (0.93). In the case of pFAS, RF model showed its effectiveness, with high levels of accuracy (0.90), precision (0.86), sensitivity (0.96), F1 Score (0.91), specificity (0.83), and AUC (0.90). For ARND, RF model obtained the best levels of accuracy (0.87), precision (0.76), sensitivity (0.93), F1 Score (0.84), specificity (0.83), and AUC (0.88). Our study identified key variables for efficient FASD screening, including traditional clinical characteristics like maternal alcohol consumption, lip-philtrum, microcephaly, height and weight impairment, as well as neuropsychological variables such as the Working Memory Index (WMI), aggressive behavior, IQ, somatic complaints, and depressive problems. Discussion: Our findings emphasize the importance of ML analyses for early diagnoses of FASD, allowing a better understanding of FASD subtypes to potentially improve clinical practice and avoid misdiagnosis.
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AIM: This article evaluates the practice patterns of European Pediatric Surgeons' Association (EUPSA) members regarding the timing of inguinal hernia (IH) repair in premature infants. METHODS: Online survey containing 29 questions distributed to EUPSA members during January 2023. RESULTS: A total of 180 responds were received. Overall, IH repair prior to discharge was favored by 60% of respondents when there was a history of incarceration and 56% when there was not. In the case of very/extremely premature infants (< 32 weeks) with no history of incarceration, fewer (43%) respondents postpone the surgery until after discharge. The majority of respondents cited the risk of incarceration as the reason for advocating surgery prior to discharge, whereas a reduced risk of apnea was the most cited reason for respondents who prefer delayed surgery. Open approach under general anesthesia was favored by 54% of respondents, with 27% of them preferring open approach with spinal anesthesia. Laparoscopic surgery for premature infants is used in 11% while 7% of them preferred in all premature infants including extremely/very premature ones. Contralateral side evaluation was never done by 40% of respondents and 29% only performed it only during laparoscopic repair. The majority of respondents (77%) indicated that they have an overnight stay policy for premature infants < 45 weeks of gestation. CONCLUSION: There is variation in the practice patterns of pediatric surgeons in the treatment of IH in premature infants. Due to the concern for the high risk of incarceration, IH repair before discharge was the most prevalent practice. Lower risk of postoperative apnea was cited as the most common reason for delaying surgery. Randomized studies are required to establish the optimal timing for IH repair in premature infants.
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Background: Neutrophil-to-lymphocyte ratio (NLR) has been recently postulated as an inflammatory biomarker for the diagnosis of vesicoureteral reflux (VUR). The aim of this study is to determine the role of NLR as a predictor of evolution of primary VUR in patients with associated acute pyelonephritis (APN). Methods: A retrospective observational cohort study was performed in patients with APN episodes with associated primary VUR diagnosed between 2013-2020. Patients were divided into two groups according to VUR evolution after APN: group A [spontaneous resolution (SR)] and group B [VUR complications development (CD) during follow-up: new APN or renal function worsening]. Demographic, prenatal, laboratory, microbiological and radiological data were analysed. Sensitivity and specificity for CD of VUR was determined by receiver operating characteristic (ROC) curves. Results: A total of 1,146 episodes of APN were analysed of which 273 patients with APN and associated primary VUR were finally included (median age of 11 months at APN diagnosis). SR of VUR occurred in 169 patients (SR group), while CD were observed in the remaining 104 patients (CD group). No differences in demographic, prenatal, microbiological and radiological features were observed. CD patients had significantly higher levels of leukocytes, neutrophils, NLR, C-reactive protein and creatinine. NLR was the parameter with the highest area under the curve (AUC =0.966) for predicting the development of VUR complications (cut-off point =3.41) with a maximum sensitivity of 92.7% and specificity of 91.1% (P<0.001). Conclusions: NLR may be considered as a simple and cost-effective predictor of clinical outcome of VUR, which may correlate with the increased risk of developing complications of primary VUR after an episode of APN. Therefore, it should be included in the management algorithm for these patients, although future prospective studies are still required to confirm these results.
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BACKGROUND: Ultrasound features help to differentiate benign from malignant masses, and some of them are included in the ultrasound (US) scores. The main aim of this work is to describe the ultrasound features of certain adnexal masses of difficult classification and to analyse them according to the most frequently used US scores. METHODS: Retrospective studies of adnexal lesions are difficult to classify by US scores in women undergoing surgery. Ultrasound characteristics were analysed, and masses were classified according to the Subjective Assessment of the ultrasonographer (SA) and other US scores (IOTA Simple Rules Risk Assessment-SRRA, ADNEX model with and without CA125 and O-RADS). RESULTS: A total of 133 adnexal masses were studied (benign: 66.2%, n:88; malignant: 33.8%, n:45) in a sample of women with mean age 56.5 ± 7.8 years. Malignant lesions were identified by SA in all cases. Borderline ovarian tumors (n:13) were not always detected by some US scores (SRRA: 76.9%, ADNEX model without and with CA125: 76.9% and 84.6%) nor were serous carcinoma (n:19) (SRRA: 89.5%), clear cell carcinoma (n:9) (SRRA: 66.7%) or endometrioid carcinoma (n:4) (ADNEX model without CA125: 75.0%). While most teratomas and serous cystadenomas have been correctly differentiated, other benign lesions were misclassified because of the presence of solid areas or papillae. Fibromas (n:13) were better identified by SA (23.1% malignancy), but worse with the other US scores (SRRA: 69.2%, ADNEX model without and with CA125: 84.6% and 69.2%, O-RADS: 53.8%). Cystoadenofibromas (n:10) were difficult to distinguish from malignant masses via all scores except SRRA (SA: 70.0%, SRRA: 20.0%, ADNEX model without and with CA125: 60.0% and 50.0%, O-RADS: 90.0%). Mucinous cystadenomas (n:12) were misdiagnosed as malignant in more than 15% of the cases in all US scores (SA: 33.3%, SRRA: 16.7%, ADNEX model without and with CA125: 16.7% and 16.7%, O-RADS:41.7%). Brenner tumors are also difficult to classify using all scores. CONCLUSION: Some malignant masses (borderline ovarian tumors, serous carcinoma, clear cell carcinoma, endometrioid carcinomas) are not always detected by US scores. Fibromas, cystoadenofibromas, some mucinous cystadenomas and Brenner tumors may present solid components/papillae that may induce confusion with malignant lesions. Most teratomas and serous cystadenomas are usually correctly classified.
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To analyze the role of neutrophil-to-lymphocyte ratio (NLR) in predicting the development of postoperative complications and readmission after appendectomy in children. A retrospective single-centered case-control study was conducted on children who underwent appendectomy between 2017 and 2020. Demographics, time since symptoms onset, laboratory tests at admission, postoperative complications, and readmissions in the first 30 days after surgery were recorded. Sensitivity and specificity analysis of the parameters evaluated were determined by the area under the curve (AUC) represented on the receiver operating characteristic (ROC) curves. A total of 1,214 patients (765 males; 449 females) were included, with a median age at diagnosis of 10.4 years. The median time from symptom onset was 24 h. During the first 30 days after surgery, 149 postoperative complications were reported (12.3%). NLR at admission presented the highest AUC (0.753), with a cut-off point of 10.5 for maximum sensitivity (68.7%) and specificity (86.1%). Readmissions were reported in 45 cases (3.7%). NLR at admission presented an AUC of 0.794 significantly higher than neutrophils (0.696), leukocytes (0.654), and time since symptom onset (0.622), making these differences statistically significant (p < 0.001). The cut-off point of NLR > 12.4 was estimated, with a maximum sensitivity and specificity of 71.0% and 82.3% for predicting readmission. NLR is an independent predictor of postoperative complications and readmission in children with acute appendicitis. While its application in routine clinical practice has yet to be established, the NLR may provide clinicians with a tool for identifying high-risk surgical patients.
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Neutrófilos , Readmisión del Paciente , Masculino , Niño , Femenino , Humanos , Estudios Retrospectivos , Estudios de Casos y Controles , Apendicectomía/efectos adversos , Linfocitos , PronósticoRESUMEN
BACKGROUND: Several ultrasound (US) features help ultrasound experts in the classification of benign vs. malignant adnexal masses. US scores serve in this differentiation, but they all have misdiagnoses. The main objective of this study is to evaluate what ultrasound characteristics are associated with malignancy influencing ultrasound scores. METHODS: This is a retrospective analysis of ultrasound features of adnexal lesions of women managed surgically. Ultrasound characteristics were analyzed, and masses were classified by subjective assessment of the ultrasonographer (SA) and other ultrasound scores (IOTA Simple Rules Risk Assessment SRRA, ADNEX model, and O-RADS). RESULTS: Of a total of 187 adnexal masses studied, 134 were benign (71.7%) and 53 were malignant (28.3%). SA, IOTA SRRA, ADNEX model with or without CA125 and O-RADS had high levels of sensitivity (93.9%, 81.1%, 94.3%, 88.7%, 98.1%) but lower specificity (80.2%, 82.1%, 82.8%, 77.6%, 73.1%) with similar AUC (0.87, 0.87, 0.92, 0.90, 0.86). Ultrasound features significantly related with malignancy were the presence of irregular contour, absence of acoustic shadowing, vascularized solid areas, ≥1 papillae, vascularized septum, and moderate-severe ascites. CONCLUSION: IOTA SRRA, ADNEX model, and O-RADS can help in the classification of benign and malignant masses. Certain ultrasound characteristics studied in ultrasound scores are associated with malignancy.
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Apendicitis , Neutrófilos , Humanos , Niño , Tiempo de Internación , Linfocitos , Recuento de Leucocitos , Enfermedad Aguda , Estudios Retrospectivos , ApendicectomíaRESUMEN
AIM: Sarcopenia is associated with poor prognosis in adult oncologic patients, with little evidence of this association in pediatric population, including hepatoblastoma. METHODS: Retrospective study in patients with hepatoblastoma, divided into those with or without sarcopenia. Sarcopenia was assessed by measuring psoas muscle area (PMA) at L4-L5 level on the CT/MR and defined as z-score values ≤ 2. Relapse and mortality were analyzed. RESULTS: Twenty-one patients (57.1% male) were included, with median age 35.7 months (IQR: 23.5-58.5). Seven (33.3%) had sarcopenia on initial studies compared to 14 (66.7%) who did not. No differences were found between groups in age, weight, PRETEXT, surgical treatment or. α-fetoprotein levels. Sarcopenia was associated with a higher rate of metastases at diagnosis (49.2% vs 0.0%; p = 0.026) and surgical complications (57.1% vs 21.4%, p = 0.047). After a median follow-up of 65.1 months (1.7-144.8), 2 patients (28.6%) had tumor relapse in sarcopenic group compared to 1 (7.1%) in non-sarcopenic group. Two patients died in sarcopenic group and 1 in non-sarcopenic group. Median event-free survival (EFS) was lower in sarcopenic group (100.38 ± 25.63 vs 118.91 ± 11.52 months) as well as overall survival (OS) (101.72 ± 24.86 vs 121.78 ± 8.75 months) with no statistical significance. Five-year EFS was also lower in sarcopenic group (71% vs 93%) as well as 5-year OS (71% vs 87%). CONCLUSIONS: Sarcopenia at diagnosis was associated with a higher rate of metastases and surgical complications in hepatoblastoma. Our data shows the first evidence of its role as a possible poor prognostic factor, influencing survival and risk of relapse. LEVEL OF EVIDENCE: II. TYPE OF STUDY: Original article. Retrospective study.
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Background: Surgical site infection (SSI) is one of the most common complications after appendectomy, which carries high associated morbidity. Therefore, it is essential to determine SSI predictive factors in order to prevent its occurrence. The aim of this study is to explore the role of neutrophil-to-lymphocyte ratio (NLR) as a predictor of SSI after appendectomy in children. Methods: A single-center, retrospective cohort study was performed in children who underwent appendectomy between 2017-2020. Demographics, time since symptoms onset, laboratory tests at admission, ultrasound appendiceal diameter, rate of complicated appendicitis, surgical aproach, surgery time and SSI rate were analyzed. Follow-up was performed during hospitalization and at outpatient clinic at 2 weeks and 30 days postoperatively to assess the surgical wound aspect. Diagnostic cut-off values of these markers for SSI prediction were based on the significance in the univariate analysis. Variables with a P value <0.05 in the univariate analysis were then entered into the multivariate analysis. Results: A total of 1,136 patients (710 males; 426 females) were included. SSI was reported in 53 patients (4.7%) during the 30-day follow-up after appendectomy (SSI group), with no demographic differences with the control group. Time since symptoms onset was significantly higher in SSI group (24 vs. 18 hours; P=0.034), as well as ultrasound appendiceal diameter (10.5 vs. 8.5 mm; P=0.010). Complicated appendicitis was observed in about 60% of both groups, without differences in surgical approach between them. Surgery time was statistically higher in the SSI group (62.4 vs. 47.9 min; P<0.001). SSI group presented higher counts of leukocytes, neutrophils and NLR than control group (P<0.001). NLR was the parameter with the highest area under the curve (AUC) (AUC =0.808; P<0.001), with a cut-off point of 9.8 with maximum sensitivity (77.8%) and specificity (72.7%). NLR was an independent predictive factor for SSI in the multivariate analysis [odds ratio (OR) 1.82 (1.13-2.73); P<0.01]. Conclusions: NLR value at admission was the most promising predictive factor for the development of SSI in children undergoing appendectomy. It is an easy, simple, inexpensive, and rapid method to detect patients at high risk for SSI. However, further prospective studies are still needed to confirm these results.
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Prenatal alcohol exposure affects the cardiovascular health of the offspring. Epigallocatechin-3-gallate (EGCG) may be a protective agent against it, but no data are available regarding its impact on cardiac dysfunction. We investigated the presence of cardiac alterations in mice prenatally exposed to alcohol and the effect of postnatal EGCG treatment on cardiac function and related biochemical pathways. C57BL/6J pregnant mice received 1.5 g/kg/day (Mediterranean pattern), 4.5 g/kg/day (binge pattern) of ethanol, or maltodextrin until Day 19 of pregnancy. Post-delivery, treatment groups received EGCG-supplemented water. At post-natal Day 60, functional echocardiographies were performed. Heart biomarkers of apoptosis, oxidative stress, and cardiac damage were analyzed by Western blot. BNP and Hif1α increased and Nrf2 decreased in mice prenatally exposed to the Mediterranean alcohol pattern. Bcl-2 was downregulated in the binge PAE drinking pattern. Troponin I, glutathione peroxidase, and Bax increased in both ethanol exposure patterns. Prenatal alcohol exposure led to cardiac dysfunction in exposed mice, evidenced by a reduced ejection fraction, left ventricle posterior wall thickness at diastole, and Tei index. EGCG postnatal therapy restored the physiological levels of these biomarkers and improved cardiac dysfunction. These findings suggest that postnatal EGCG treatment attenuates the cardiac damage caused by prenatal alcohol exposure in the offspring.
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PURPOSE: Congenital diaphragmatic hernia (CDH) pathogenesis is poorly understood. We hypothesize that fetal CDH lungs are chronically hypoxic because of lung hypoplasia and tissue compression, affecting the cell bioenergetics as a possible explanation for abnormal lung development. METHODS: To investigate this theory, we conducted a study using the rat nitrofen model of CDH. We evaluated the bioenergetics status using H1 Nuclear magnetic resonance and studied the expression of enzymes involved in energy production, the hypoxia-inducible factor 1α, and the glucose transporter 1. RESULTS: The nitrofen-exposed lungs have increased levels of hypoxia-inducible factor 1α and the main fetal glucose transporter, more evident in the CDH lungs. We also found imbalanced AMP:ATP and ADP:ATP ratios, and a depleted energy cellular charge. Subsequent transcription levels and protein expression of the enzymes involved in bioenergetics confirm the attempt to prevent the energy collapse with the increase in lactate dehydrogenase C, pyruvate dehydrogenase kinase 1 and 2, adenosine monophosphate deaminase, AMP-activated protein kinase, calcium/calmodulin-dependent protein kinase 2, and liver kinase B1, while decreasing ATP synthase. CONCLUSION: Our study suggests that changes in energy production could play a role in CDH pathogenesis. If confirmed in other animal models and humans, this could lead to the development of novel therapies targeting the mitochondria to improve outcomes.
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Hernias Diafragmáticas Congénitas , Enfermedades Pulmonares , Humanos , Ratas , Animales , Hernias Diafragmáticas Congénitas/metabolismo , Ratas Sprague-Dawley , Pulmón/anomalías , Éteres Fenílicos/toxicidad , Enfermedades Pulmonares/metabolismo , Hipoxia/metabolismo , Adenosina Trifosfato/efectos adversos , Adenosina Trifosfato/metabolismo , Modelos Animales de EnfermedadRESUMEN
Subjective ultrasound assessment by an expert examiner is meant to be the best option for the differentiation between benign and malignant adnexal masses. Different ultrasound scores can help in the classification, but whether one of them is significantly better than others is still a matter of debate. The main aim of this work is to compare the diagnostic performance of some of these scores in the evaluation of adnexal masses in the same set of patients. This is a retrospective study of a consecutive series of women diagnosed as having a persistent adnexal mass and managed surgically. Ultrasound characteristics were analyzed according to IOTA criteria. Masses were classified according to the subjective impression of the sonographer and other ultrasound scores (IOTA simple rules -SR-, IOTA simple rules risk assessment -SRRA-, O-RADS classification, and ADNEX model -with and without CA125 value-). A total of 122 women were included. Sixty-two women were postmenopausal (50.8%). Eighty-one women had a benign mass (66.4%), and 41 (33.6%) had a malignant tumor. The sensitivity of subjective assessment, IOTA SR, IOTA SRRA, and ADNEX model with or without CA125 and O-RADS was 87.8%, 66.7%, 78.1%, 95.1%, 87.8%, and 90.2%, respectively. The specificity for these approaches was 69.1%, 89.2%, 72.8%, 74.1%, 67.9%, and 60.5%, respectively. All methods with similar AUC (0.81, 0.78, 0.80, 0.88, 0.84, and 0.75, respectively). We concluded that IOTA SR, IOTA SRRA, and ADNEX models with or without CA125 and O-RADS can help in the differentiation of benign and malignant masses, and their performance is similar to the subjective assessment of an experienced sonographer.
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BACKGROUND: The aim of this multicenter retrospective study and literature review was to review management and outcomes of neonatal esophageal perforation (NEP). METHODS: Protocol data were collected from four European Centers on gestational age, factors surrounding feeding tube insertion, management and outcomes. RESULTS: The 5-year study period (2014-2018) identified eight neonates with median gestational age of 26 + 4 weeks (23 + 4-39) and median birth weight 636 g (511-3500). All patients had NEP from enterogastric tube insertions, with the perforation occurring at median 1st day of life (range 0-25). Seven/eight patients were ventilated (two/seven-high frequency oscillation). NEP became apparent on first tube placement (n = 1), first change (n = 5), and after multiple changes (n = 2). Site of perforation was known in six (distal n = 3, proximal n = 2 and middle n = 1). Diagnosis was established by respiratory distress (n = 4), respiratory distress and sepsis (n = 2) and post-insertion chest X-ray (n = 2). Management in all patients included antibiotics and parenteral nutrition with two/eight receiving steroids and ranitidine, one/eight steroids only and one/eight ranitidine only. One neonate had a gastrostomy inserted, while in another an enterogastric tube was orally successfully re-inserted. Two neonates developed pleural effusion and/or mediastinal abscess requiring chest tube. Three neonates had significant morbidities (related to prematurity) and there was one death 10 days post-perforation (related to prematurity complications). CONCLUSIONS: NEP during NGT insertion is rare even in premature infants after evaluating data from four tertiary centers and reviewing the literature. In this small cohort, conservative management seems to be safe. A larger sample size will be necessary to answer questions on efficacy of antibiotics, antacids and NGT re-insertion time frame in NEP.
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PURPOSE: There is controversy about the necessity of nighttime appendectomy. The aim of this study was to determine whether timing of appendectomy performance plays a role on postoperative complications. METHODS: A retrospective single-center comparative study was performed in children who underwent surgery for acute appendicitis between 2017 and 2021. Patients were divided into groups based on the time slot in which surgery was performed: morning (8:00 h-15:00 h), afternoon (15:00 h-22:00 h) and night (22:00 h-08:00 h). Demographics, intraoperative data, length of hospital stay, and postoperative complications were analyzed and compared. RESULTS: A total of 1643 patients were included: 337 were operated in the morning, 751 in the afternoon and 555 at night. We found no demographic differences. When comparing the intraoperative data, no differences were observed in the percentage of complicated appendicitis. Night group patients presented a higher percentage of open appendectomies (64.5%) when compared to afternoon (49.6%) and morning (46.2%) groups (p < 0.001). Surgery time was also significantly shorter in the night group (45.2 min ± 18.9 min) (p < 0.001). There were no differences in length of hospital stay, postoperative complications rate or readmission rate. CONCLUSION: These results show that in our institution time slot in which the appendectomy is performed has no consequences in postoperative outcomes and complications.
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Apendicitis , Laparoscopía , Niño , Humanos , Apendicectomía/métodos , Estudios Retrospectivos , Apendicitis/cirugía , Apendicitis/complicaciones , Resultado del Tratamiento , Laparoscopía/métodos , Complicaciones Posoperatorias/etiología , Tiempo de InternaciónRESUMEN
OBJECTIVE: To report a 15-y, single-center experience in the management and outcomes of ileocolic intussusception (ICI) episodes. METHODS: A retrospective study was performed in patients with ICI episodes, who were treated at a single quaternary referral center from 2005 to 2019. Data evaluated included patient demographics, clinical presentation, treatment modalities, hospital stay, complications, and outcomes. RESULTS: A total of 546 ICI episodes (66.1% males) were included, with a median age at diagnosis of 15 mo. Enema reduction was performed in 478 patients (87.6%), with an overall success rate of 85.8%. Hydrostatic saline enema was the most effective method (89.3%) when compared to pneumatic (80.6%) or barium enema (79.8%), this difference being statistically significant (p = 0.031). No associated complications were observed during nonoperative reduction. Surgical treatment was performed in 101 patients, in whom 36 bowel resections were performed. Postoperative complications were reported in 6 patients (5.9%). Hospital stay was significantly longer in patients with operative management (median 5 d vs. 1 d; p < 0.001). CONCLUSIONS: Nonoperative management has a high overall success rate and low complication and recurrence rates. Saline enema reduction presents the highest effectiveness, and should be considered the first-line treatment.
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Enfermedades del Íleon , Intususcepción , Masculino , Niño , Humanos , Lactante , Femenino , Estudios Retrospectivos , Enema/efectos adversos , Complicaciones Posoperatorias/etiología , Recurrencia , Resultado del Tratamiento , Enfermedades del Íleon/etiología , Enfermedades del Íleon/terapiaRESUMEN
INTRODUCTION: The neutrophil-to-lymphocyte ratio (NLR) is an inflammatory biomarker that is easily calculated with data from the differential white blood cell count. The aim of our study was to analyse the role of the NLR in the detection of negative appendectomies and to compare its usefulness with other clinical, sonographic and laboratory factors previously described. METHODS: We conducted a retrospective study in patients aged less than 16 years who underwent appendectomy in our hospital between 2017 and 2020. We divided patients into 2 groups based on appendiceal histological findings: NA group (negative appendicitis: absence of appendiceal inflammation) and PA group (positive appendicitis: presence of inflammation in any layer of the appendiceal wall). We analysed demographic, clinical, sonographic and laboratory characteristics. RESULTS: We included a total of 1269 patients, 1244 in the PA group and 25 in the NA group, with no differences between groups in demographic characteristics. The proportion of patients that presented with nausea and vomiting was significantly smaller in the NA group compared to the PA group (Pâ¯<â¯.001), and there were no other differences in symptoms. The appendiceal diameter on ultrasound was significantly smaller in the NA group (8.1⯱â¯2.1 vs. 9.7⯱â¯2.8â¯mm; Pâ¯<â¯.001). The white blood cell and neutrophil counts and the NLR were significantly higher in the PA group (Pâ¯<â¯.001), as was the level of C-reactive protein (18.6 vs. 2.6; Pâ¯=â¯.005). The ROC curve analysis revealed that the NLR was the parameter with the highest AUC (0.879) for the diagnosis of negative appendicitis, with a cut-off point of 2.65 for a maximum sensitivity of 84.2% and specificity of 83.8%. CONCLUSION: The NLR is the preoperative parameter that best discriminates patients without acute appendicitis. Values of less than 2.65 should make clinicians contemplate diagnoses other than appendicitis.
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Apendicitis , Neutrófilos , Humanos , Estudios Retrospectivos , Apendicectomía , Apendicitis/diagnóstico , Apendicitis/cirugía , Linfocitos , Inflamación/patologíaRESUMEN
OBJECTIVE: Neutrophil-to-lymphocyte ratio (NLR) is an emerging inflammatory marker in abdominal pathologies. Ileocolic intussusception (ICI) involves a progressive intestinal inflammation, and the effectiveness of nonsurgical treatment (enema) might be related to the inflammation degree, although no previous studies have investigated this relationship. Our aim is to identify predictors of the need for surgical treatment in ICI. MATERIALS AND METHODS: A single-center, retrospective, case-control study was performed in children with ICI, who were treated with initial nonsurgical management between 2005 and 2019. Patients were divided in two groups: A (effective enema) and B (need for surgery). Admission demographic and clinical and laboratory data were analyzed. Specificity and sensitivity of the different parameters as predictors of the need for surgical treatment were determined by receiver operating characteristic (ROC) curves. RESULTS: A total of 511 patients were included (410: group A; 101: group B), without statistically significant demographic differences. Group B presented significantly higher frequency of vomiting, bloody stools, and longer median time since symptoms onset (24 vs. 8 hours; p < 0.001). Group B presented higher median laboratory inflammatory markers than group A: NLR (6.8 vs. 1.8; p < 0.001), neutrophils (10,148 vs. 7,468; p < 0.001), and C-reactive protein (CRP; 28.2 vs. 4.7; p < 0.001). In ROC curve analysis, NLR had an area under the curve of 0.925, higher than neutrophil count (0.776; p = 0.001), CRP (0.670; p = 0.001), and time since symptoms onset (0.673; p = 0.001). It was estimated a cut-off point of NLR greater than 4.52 (sensitivity: 73.2%; specificity: 94.5%). CONCLUSION: High NLR values imply a high degree of bowel inflammation and might anticipate the need for surgical treatment in ICI in children. LEVEL OF EVIDENCE: III.
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Intususcepción , Neutrófilos , Niño , Humanos , Estudios Retrospectivos , Estudios de Casos y Controles , Intususcepción/diagnóstico , Intususcepción/cirugía , Linfocitos , Inflamación , Biomarcadores , Curva ROC , PronósticoRESUMEN
BACKGROUND: Partial onychectomy with chemical matrixectomy is considered the gold standard treatment for stage II-III ingrown toenails (IT). However, there are scarce reports describing the use of silver nitrate in IT management in adolescents. Our aim is to analyze the effectiveness of matrix ablation with silver nitrate and compare it with partial onychectomy by electrocautery. METHODS: A retrospective study of adolescent patients with stage II-III IT was performed. Those who underwent electrocautery matricectomy in a major outpatient surgical center (Group A) and those who were treated with silver nitrate at an outpatient clinic (Group B) were compared. Efficacy was determined by recurrence and postoperative infection rates. RESULTS: Two hundred and nine patients were included (86 group A; 123 group B), with a total of 382 partial onychectomies (151 group A; 231 group B). Group B patients exhibited a lower recurrence rate (4.7%) when compared to group A (11.2%, p = .02), and had a lower postoperative infection rate (4.0% group A vs. 1.7% group B; p = .18), although not statistically significant. CONCLUSION: Silver nitrate chemical matricectomy after partial onychectomy is an effective treatment for IT in adolescents, with few postoperative complications and low recurrence rate. Therefore, it should be considered as a possible alternative to electrocautery matricectomy.
Asunto(s)
Uñas Encarnadas , Uñas , Adolescente , Humanos , Nitrato de Plata/uso terapéutico , Estudios de Casos y Controles , Estudios Retrospectivos , Recurrencia , Uñas Encarnadas/cirugía , Complicaciones PosoperatoriasRESUMEN
Orofaciodigital syndrome (OFD) is a genetically heterogeneous ciliopathy characterized by anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three unrelated families having bi-allelic loss-of-function variants in SCNM1 as the cause of their condition. SCNM1 encodes a protein recently shown to be a component of the human minor spliceosome. However, so far the effect of loss of SCNM1 function on human cells had not been assessed. Using a comparative transcriptome analysis between fibroblasts derived from an OFD-affected individual harboring SCNM1 mutations and control fibroblasts, we identified a set of genes with defective minor intron (U12) processing in the fibroblasts of the affected subject. These results were reproduced in SCNM1 knockout hTERT RPE-1 (RPE-1) cells engineered by CRISPR-Cas9-mediated editing and in SCNM1 siRNA-treated RPE-1 cultures. Notably, expression of TMEM107 and FAM92A encoding primary cilia and basal body proteins, respectively, and that of DERL2, ZC3H8, and C17orf75, were severely reduced in SCNM1-deficient cells. Primary fibroblasts containing SCNM1 mutations, as well as SCNM1 knockout and SCNM1 knockdown RPE-1 cells, were also found with abnormally elongated cilia. Conversely, cilia length and expression of SCNM1-regulated genes were restored in SCNM1-deficient fibroblasts following reintroduction of SCNM1 via retroviral delivery. Additionally, functional analysis in SCNM1-retrotransduced fibroblasts showed that SCNM1 is a positive mediator of Hedgehog (Hh) signaling. Our findings demonstrate that defective U12 intron splicing can lead to a typical ciliopathy such as OFD and reveal that primary cilia length and Hh signaling are regulated by the minor spliceosome through SCNM1 activity.