45 research outputs found
Association of Image-Defined Risk Factors with Clinical, Biological Features and Outcome in Neuroblastoma
No full textBackground: Neuroblastoma (NB) is the most common pediatric extracranial solid tumor and the most common cancer encountered in children younger than 12 months of age. Localized tumors have a good prognosis, but some cases undergo treatment failure and recurrence. The aim of the study was to analyze the link between the neuroblastoma risk factors and the prognosis for patients diagnosed with NB. Method: All patients admitted to the department of Pediatric Surgery, “Grigore Alexandrescu” Clinical Emergency Hospital for Children, between 1 January 2010 and 1 July 2022 were included in this analysis when diagnosed with neuroblastoma. Results: Thirty-one patients with NB were admitted to the surgical department, 20 boys and 11 girls. We observed an association between large tumors and positive imaging-defined risk factor (IDRF) status; The Fisher test showed an association between the tumor’s diameter when bigger than 8 cm and a positive IDRF status, with p < 0.001. We supposed that positive IDRF status at diagnosis may be linked to other prognostic factors. We discovered that an NSE value over 300 was associated with IDRF status (p < 0.001, phi = 0.692) and death. Conclusions: This study confirms the impact of IDRF status at diagnosis as it can be clearly correlated with other risk factors, such as a high level of NSE, MYCN amplification status, large tumor size, incomplete tumor resection, and an unfavorable outcome
Effects of physical exercise and body weight on disease-specific outcomes of people with rheumatic and musculoskeletal diseases (rmds): systematic reviews and meta-analyses informing the 2021 eular recommendations for lifestyle improvements in people with
No full textThis work was funded by the European League Against Rheumatism.
SMMV and JMG are supported by Versus Arthritis (grant number 21755) and the
NIHR Manchester Biomedical Research Centre. The views expressed are those of
the author(s) and not necessarily those of the NHS, the NIHR or the Department of
Health.Gwinnutt J.M., Wieczorek M., Cavalli G., Balanescu A., Bischoff-Ferrari H.A., Boonen A., De Souza S., De Thurah A., Dorner T.E., Moe R.H., Putrik P., Rodríguez-Carrio J., Silva-Fernández L., Stamm T., Walker-Bone K., Welling J., Zlatković-Švenda M.I., Guillemin F., Verstappen S.M.M
Our Experience with Cyst Excision and Hepaticoenterostomy for Choledocal Cyst: A Single Center Case Review of 16 Patients
No full textBackground and Objectives: Choledocal cyst is a rare congenital disease of the biliary tree defined by dilatation of the extrahepatic and/or intrahepatic biliary ducts. Untreated, it leads to complications such as cholangitis, stone formation and malignant degeneration. The standard treatment for choledocal cyst is complete excision and subsequent biliary reconstruction via hepaticojejunostomy or hepatiocoduodenostomy. Materials and Methods: We report our experience with 16 pediatric cases of choledocal cyst over a 10-year period. Results: The predominant symptoms were nausea and jaundice, both at 62.5% (n = 10), followed by abdominal pain at 56.3% (n = 9). Ultrasonography was the diagnostic method used in all patients. Computed tomography was used in 75% (n = 12) and magnetic resonance imaging in 25% (n = 4) of cases. Age at the time of intervention ranged from 2 months to 17 years with a mean of 4 years and 5 months. The open approach was used in nine patients and the laparoscopic approach was used in seven patients, with one conversion to open surgery. Complete excision of the choledocal cyst was performed in 15 cases (93.7%), and partial excision with mucosectomy was performed in one case (6.2%). Eight patients (50%) underwent hepaticoduodenostomy and eight (50%) underwent hepaticojejunostomy, out of which one was attempted laparoscopically but was converted. We had a postoperative complication rate of 12.5% (n = 2) represented by anastomotic leak and pancreatitis. Conclusions: From our experience with these cases, we concluded that a wide hepaticoduodenostomy constitutes a favorable choice over the traditional hepaticojejunostomy, being more physiological and less time consuming
Cholecystectomy in Children: Indications and Timing
No full textBackground: Pediatric cholelithiasis has become increasingly diagnosed, partly due to enhanced imaging accessibility and rising obesity rates. Despite laparoscopic cholecystectomy being the standard treatment, the optimal timing for surgery remains debated, especially in complicated cases. The aim of our study is to analyze the demographic, clinical, and surgical characteristics of pediatric patients undergoing cholecystectomy and to identify the most favorable timing for surgery in terms of outcomes and complications. Material and methods: A retrospective study was conducted on 101 pediatric patients who underwent cholecystectomy between 2015 and 2024 at a tertiary children’s hospital. Patients were categorized based on surgical timing: elective, early (day 1–4), intermediate (day 5–14), and delayed (after day 14). Demographic data, clinical presentation, laboratory values, imaging, operative time, intraoperative findings, and postoperative complications were analyzed. Results: The median age was 15 years, with 64.35% female. Obesity was highly prevalent and significantly associated with choledocholithiasis and pancreatitis. Elective and delayed surgeries (after 14 days) had the shortest operative times (median: 2 h) and the lowest complication rates. Early surgeries (within 4 days) showed longer operative times and a higher incidence of intraoperative difficulties and complications. Histopathological findings did not influence clinical management, suggesting potential for selective examination. Conclusions: Elective or delayed cholecystectomy after a “cool-down” period of 5–14 days provides the most favorable outcomes in pediatric patients with complicated cholelithiasis. Conservative management remains appropriate for asymptomatic cases. A standardized approach to surgical timing may reduce complications and hospital cost
Dysplasia Epiphysealis Hemimelica (Trevor’s Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review
No full textDysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare nonhereditary skeletal disorder affecting one side of the epiphyses or the epiphyses-equivalents. It is often misdiagnosed for traumatic injuries, infections, or other tumors because of the nonspecific clinical features. The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis. No evidence of malignant changes has been reported and no hereditary transmission or environmental factor has been incriminated as an etiological factor. The natural history of the disease is continuous growth of the lesions until skeletal maturity. Without treatment, the joint might suffer degenerative modification, and the patient can develop early onset osteoarthritis. In the present paper, we report two new cases of DEH of the ankle. The aim of this paper is to consider Trevor’s disease when encountering tumoral masses in the epiphyses of pediatric patients and to present our treatment approach and results
Hypertriglyceridemia Induced Acute Pancreatitis Caused by a Novel LIPC Gene Variant in a Pediatric Patient
No full textHypertriglyceridemia induced acute pancreatitis is a rare cause of pancreatitis in children. Hepatic lipase deficiency is an extremely rare cause of hypertriglyceridemia, reported in only a few families to date. Hepatic lipase is the enzyme involved in the hydrolysis of triglycerides and phospholipids in remnants of triglyceride-rich lipoproteins that have a role in the conversion of very low density lipoprotein remnants to low density lipoproteins. Hepatic lipase deficiency is inherited in an autosomal recessive pattern. Detection of heterozygous carriers of hepatic lipase mutations remains accidental at the population level, as affected persons with a heterozygous state of hepatic lipase mutation do not display specific lipoprotein abnormalities and also patients with complete hepatic lipase deficiency have inconstant phenotype. The proximal promoter of the LIPC gene consists of four polymorphic sites in complete linkage disequilibrium. Five missense mutations in encoding exons have been described and proved to be responsible for hepatic lipase deficiency to date: S267F, T383M, L334F, A174T, and R186H, affecting the activity and secretion of hepatic lipase. We identified a primary disorder of the lipid metabolism as the cause of the acute episode of pancreatitis in a four years old patient, consisting of hepatic lipase deficiency caused by a novel genetic variant of the LIPC gene, a gross deletion of the genomic region encompassing exon 1. This variant was not previously described in the literature in persons with LIPC-related disorders and its significance is currently uncertain, but in the presented clinical and paraclinical context, it has the characteristics of a pathological variant inducing a hepatic lipase deficiency phenotype
Association between obesity and likelihood of remission or low disease activity status in psoriatic arthritis applying index-based and patient-based definitions of remission: a cross-sectional study
No full textObjectives We aimed to evaluate whether obese patients with psoriatic arthritis (PsA) were less likely to be in remission/low disease activity (LDA).
Methods We used data from the ReFlaP, an international multi-centre cohort study (NCT03119805), which recruited consecutive adults with definite PsA (disease duration ≥ 2 years) from 14 countries. Demographics, clinical data, comorbidities, and patient-reported outcomes were collected. Remission/LDA was defined as Very Low Disease Activity (VLDA)/minimal disease activity (MDA), Disease Activity in PSoriatic Arthritis (DAPSA) ≤4/≤14, or by patients’ opinion. Obesity was defined as physician-reported and/or body mass index ≥30 kg/m2. We evaluated the association between obesity and the presence of remission/LDA, with adjustment in multivariable regression models.
Results Among 431 patients (49.3% women), 136 (31.6%) were obese. Obese versus non-obese patients were older, more frequently women, had higher tender joint and enthesitis counts and worse pain, physical function and health-related quality of life. Obese patients were less likely to be in VLDA; DAPSA remission and MDA, with adjusted ORs of 0.31 (95% CI 0.13 to 0.77); 0.39 (95% CI 0.19 to 0.80) and 0.61 (95% CI 0.38 to 0.99), respectively. Rates of DAPSA-LDA and patient-reported remission/LDA were similar for obese and non-obese patients.
Conclusion PsA patients with comorbid obesity were 2.5–3 folds less likely to be in remission/LDA by composite scores compared with non-obese patients; however, remission/LDA rates were similar based on the patients’ opinion. PsA patients with comorbid obesity may have different disease profiles and require individualised management
Fetal Pancreatic Hamartoma Associated with Hepatoblastoma—An Unusual Tumor Association
No full textAbdominal tumor masses are a very rare disease in the fetus. The authors present the first reported case of neonatal multicystic adenomatoid hamartoma of the pancreas associated with well-differentiated fetal epithelial subtype hepatoblastoma and reveal clinical, histologic, and imagistic aspects. Case presentation: A 36-week-old female newborn in whom a 25-week ultrasound showed a relatively homogeneous pancreatic echogenic mass (34 × 30 × 55 mm) with compression of the inferior vena cava and retrograde dilation. Postnatal CT showed a giant pancreatic tumor mass (113 × 70 × 60 mm), with areas enhancing contrast and cystic/necrotic areas and a hypodense, hypocaptive nodule of 8 × 6 mm located at segment IV of the liver; thrombosis of the subhepatic segment of the inferior vena cava and both renal veins. Histopathological and immunohistochemical studies confirmed the diagnosis of multicystic pancreatic adenomatoid hamartoma and well-differentiated fetal epithelial subtype hepatoblastoma. Conclusions: Pancreatic hamartoma can be difficult to diagnose (especially prenatal), with or without nonspecific symptoms. The synchronous presence of hepatoblastoma complicated the therapeutic conduct and prognosis of this case, with the diagnosis being confirmed histopathologically and immunohistochemically after liver biopsy
From Severe Anemia to Intestinal Hemangiomatosis, a Bumpy Road—A Case Report and Literature Review
No full textGastrointestinal hemangiomas (GIH) are unusual vascular tumors found anywhere alongside the GI tract, the small bowel being the most common site. Diagnosis requires good clinical insight and modern imaging. This is a comprehensive review of the literature, starting from a new pediatric case diagnosed through exploratory laparotomy after complex imaging techniques failed. This research was conducted on published articles from the past 25 years. We identified seventeen original papers (two series of cases with three and two patients, respectively, and fifteen case reports). The female/male ratio was 1.5. The youngest patient was a 3-week-old boy, and the was oldest a 17-year-old girl. The most common localization was the jejunum (eight cases), followed by the ileum (four), colon (three), stomach (two), and rectum (one). Seven children had cavernous and four had capillary hemangiomas. Eight patients presented gastrointestinal bleeding, seven had refractory anemia, such as our index patient, three had recurrent abdominal pain, and two had bowel obstruction. Surgical assessment was successful in fifteen cases; three cases experienced great outcomes with oral propranolol, one child was treated successfully with sirolimus, and for one patient, endoscopic treatment was the best choice. The authors present the case of a female patient admitted to the Pediatrics Department of “Grigore Alexandrescu” Emergency Children’s Hospital from 25 February to 28 March 2019 for severe anemia, refractory to oral iron treatment, and recurrent blood infusions. No clear bleeding cause had been found. Although very uncommon, intestinal hemangiomas can express puzzling, life-threatening symptoms. We should keep in mind this disorder in cases of unresponsive chronic anemia
The Use of Tranexamic Acid in Anterior Cruciate Ligament Reconstruction: A Systematic Review
No full textBackground: There are several papers that investigate the use of tranexamic acid (TXA) in anterior cruciate ligament reconstructions (ACLR) or other arthroscopic procedures that show favorable results and little to no complications. We aimed to perform a systematic review of all published randomized controlled trials (RCTs) that wanted to determine the effectiveness of intravenous use of TXA in ACLR. Methods: Data collection was performed independently by two authors via a previously created spreadsheet. They extracted information such as: first author name, publication year, lot size, TXA protocol, surgical protocol, outcome measures and follow-up duration. Results: After applying the screening process and the inclusion criteria, we were left with a total six RCTs. The selected studies included a total of 699 randomized patients. Statistical significance regarding a lower pain score (VAS) in the intervention groups was mostly reported for the early postoperative period (2 weeks). A statistically significant decrease in hemarthrosis grade was reported for the first 2–3 weeks. Conclusions: in our study, we show that TXA use in arthroscopic ACLR decreases postoperative blood loss and pain. Some evidence of improvement in functional scores was observed, but we believe that this needs to be addressed in specific long-term result studies
