38 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
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
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
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
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
Phenotyping the Prediabetic Population—A Closer Look at Intermediate Glucose Status and Cardiovascular Disease
No full textEven though the new thresholds for defining prediabetes have been around for more than ten years, there is still controversy surrounding the precise characterization of this intermediate glucose metabolism status. The risk of developing diabetes and macro and microvascular disease linked to prediabetes is well known. Still, the prediabetic population is far from being homogenous, and phenotyping it into less heterogeneous groups might prove useful for long-term risk assessment, follow-up, and primary prevention. Unfortunately, the current definition of prediabetes is quite rigid and disregards the underlying pathophysiologic mechanisms and their potential metabolic progression towards overt disease. In addition, prediabetes is commonly associated with a cluster of risk factors that worsen the prognosis. These risk factors all revolve around a common denominator: inflammation. This review focuses on identifying the population that needs to be screened for prediabetes and the already declared prediabetic patients who are at a higher risk of cardiovascular disease and require closer monitoring
N-TERMINAL PRO-BRAIN NATRIURETIC PEPTIDE IN SYSTEMIC SCLEROSIS PATIENTS: CORRELATION WITH NAILFOLD CAPILLAROSCOPY FINDINGS
No full textBackground. Pulmonary arterial hypertension (PAH) is an important cause of morbidity and mortality in patients
with systemic sclerosis (SSc). This condition is diagnosed by cardiac Doppler ultrasonography, right-heart catheterization, or by serum levels of N-terminal pro-brain natriuretic peptide (NT-proBNP). The aim of this study was to assess the association between serum NT-proBNP and nailfold capillaroscopic patterns in SSc patients. We also analyzed the association between pulmonary function parameters, NT-proBNP, and nailfold capillary findings in patients diagnosed with SSc and PAH.
Material and methods. We retrospectively analyzed SSc patients and healthy controls from our institution between July 2016 - December 2018. We assessed by chart review: pulmonary artery systolic pressure (PASP),
forced vital capacity (FVC), forced expiratory volume in 1 sec/forced vital capacity ratio (FEV1/FVC ratio), the
number of nailfold capillaries/mm and NT-proBNP. Statistical analyses were performed using the Student’s t-test, ANOVA test and the Pearson’s correlation.
Results. Seventeen patients with SSc and 17 healthy controls matched for age and gender were included. Among SSc patients, 13 had diffuse cutaneous SSc (dcSSc) and 4 patients had limited cutaneous SSc (lcSSc). PAH was identified in 10 SSc patients. In SSc patients, significant correlations have been identified between PASP and NT-proBNP (r=0.9, p<0.0001), nailfold capillaries density and PASP (r=-0.95, p<0.0001), and nailfold capillaries density and NT-proBNP (r=-0.84, p<0.0001).
Conclusion. We suggest that in patients with SSc, NT-proBNP is significantly correlated with PASP and nailfold
capillaroscopic findings
An unusual clue in the diagnosis of primary Sjogren’s syndrome
No full textSjogren’s syndrome (SSj) is a chronic autoimmune disease mainly targeting the exocrine glands, but sometimes associating extra-glandular manifestations. Xerosis, purpura, Raynaud’s phenomenon, cutaneous vasculitis, annular erythema are the main forms of skin involvement.
A 26-year-old female patient was admitted for diffuse erythematous rash and angioedema, xerophthalmia and symmetrical arthralgia of hand joints. Anti-nuclear antibodies, anti-SSA and anti-Ro52 antibodies were identified, Schirmer’s test was positive, thus the diagnoses of primary SSj and associated urticarial vasculitis were established. Treatment with oral methylprednisolone, azathioprine and hydroxychloroquine was initiated, with favourable response over the next week.
Patients with primary SSj that develop cutaneous vasculitis, lymphadenopathies or lymphopenia may be at risk for additional extra-glandular manifestations, including non-Hodgkin lymphoma
Inflammation as A Precursor of Atherothrombosis, Diabetes and Early Vascular Aging
No full textVascular disease was for a long time considered a disease of the old age, but it is becoming increasingly clear that a cumulus of factors can cause early vascular aging (EVA). Inflammation plays a key role in vascular stiffening and also in other pathologies that induce vascular damage. There is a known and confirmed connection between inflammation and atherosclerosis. However, it has taken a long time to prove the beneficial effects of anti-inflammatory drugs on cardiovascular events. Diabetes can be both a product of inflammation and a cofactor implicated in the progression of vascular disease. When diabetes and inflammation are accompanied by obesity, this ominous trifecta leads to an increased incidence of atherothrombotic events. Research into earlier stages of vascular disease, and documentation of vulnerability to premature vascular disease, might be the key to success in preventing clinical events. Modulation of inflammation, combined with strict control of classical cardiovascular risk factors, seems to be the winning recipe. Identification of population subsets with a successful vascular aging (supernormal vascular aging—SUPERNOVA) pattern could also bring forth novel therapeutic interventions
