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1.
Pediatr Surg Int ; 39(1): 136, 2023 Feb 22.
Article in English | MEDLINE | ID: mdl-36811679

ABSTRACT

PURPOSE: To investigate potential early risk factors for anastomotic stricture formation and assess the predictive role of post-operative esophagrams. METHODS: A retrospective study of patients with esophageal atresia with distal fistula (EA/TEF) operated between 2011 and 2020. Fourteen predictive factors were tested for stricture development. Esophagrams were used to calculate early (SI1) and late (SI2) stricture index (SI = anastomosis diameter/upper pouch diameter). RESULTS: Of 185 patients operated for EA/TEF in the 10-year period, 169 patients met the inclusion criteria. Primary anastomosis was performed in 130 patients and delayed anastomosis in 39 patients. Stricture formed in 55 patients (33%) within 1 year from anastomosis. Four risk factors showed strong association with stricture formation in unadjusted models: long gap (p = 0.007), delayed anastomosis (p = 0.042), SI1 (p = 0.013) and SI2 (p < 0.001). A multivariate analysis showed SI1 as significantly predictive of stricture formation (p = 0.035). Cut-off values using a receiver operating characteristic (ROC) curve were 0.275 for SI1 and 0.390 for SI2. The area under the ROC curve demonstrated increasing predictiveness from SI1 (AUC 0.641) to SI2 (AUC 0.877). CONCLUSIONS: This study identified an association between long gap and delayed anastomosis with stricture formation. Early and late stricture indices were predictive of stricture formation.


Subject(s)
Esophageal Atresia , Esophageal Stenosis , Tracheoesophageal Fistula , Humans , Esophageal Atresia/surgery , Constriction, Pathologic/complications , Retrospective Studies , Postoperative Complications/etiology , Tracheoesophageal Fistula/surgery , Anastomosis, Surgical/adverse effects , Esophageal Stenosis/etiology , Treatment Outcome
2.
Eur J Pediatr Surg ; 32(3): 280-286, 2022 Jun.
Article in English | MEDLINE | ID: mdl-33677824

ABSTRACT

INTRODUCTION: The number of patients with necrotizing pneumonia has increased in recent years. The aim of this study is to review the incidence, management, and outcome of pediatric necrotizing pneumonia requiring surgical therapy and to prove that lung resection results in favorable development of patients. We hypothesize that overall lung function in children after lung resection does not differ from that of the healthy population. MATERIALS AND METHODS: A retrospective tertiary referral center study with a prospective follow-up spirometric study of patients with necrotizing pneumonia managed between January 2010 and December 2019 was performed. RESULTS: The study cohort consisted of 1,295 patients admitted to the pediatric department for community-acquired pneumonia; 47 patients developed necrotizing pneumonia, 36 of whom underwent parenchymal lung resection. A 5-year rise in the occurrence of necrotizing pneumonia requiring resection was 77%, with a significant increase in the last 3 years (p < 0.05). The median age at the time of surgery was 32.5 (interquartile range [IQR]: 32.25) months. Streptococcus pneumoniae was the most prevalent pathogen (83%), although 53.3% of these patients were vaccinated against the agent. In 67% of patients, preresection procedures were performed: drainage of pneumothorax (17%), drainage of empyema (46%), drainage of empyema with use of alteplase (25%), and thoracoscopic decortication (12%). Surgical procedures included lobectomy (72.2%), wedge resection (13.9%), bilobectomy (8.3%), and pneumonectomy (5.6%). The postoperative complication was bronchopleural fistula in three patients. There were two (5.5%) postoperative deaths due to multiple organ failure. The follow-up spirometry was performed 43.3 (median, IQR 23.8-66.7) months after surgical intervention. Normal lung function was detected in 35 (64.8%) patients, restrictive pattern in 6 (11.1%) patients, obstructive pattern in 11 (20.4%) patients, and combined in 2 (3.7%) patients. CONCLUSION: The number of patients with necrotizing pneumonia requiring resection has increased significantly in the last 3 years (p < 0.05). Aggressive surgical treatment results in significant clinical improvement in most cases and favorable lung function outcome. Long-term follow-up showed normal spirometry in 64.8% of cases.


Subject(s)
Empyema , Pneumonia, Necrotizing , Child , Child, Preschool , Empyema/surgery , Follow-Up Studies , Humans , Lung/surgery , Pneumonectomy/adverse effects , Pneumonectomy/methods , Pneumonia, Necrotizing/surgery , Prospective Studies , Retrospective Studies , Tomography, X-Ray Computed , Treatment Outcome
3.
Can J Gastroenterol Hepatol ; 2021: 9969825, 2021.
Article in English | MEDLINE | ID: mdl-34258256

ABSTRACT

Over a twenty-year period, we performed 255 ERCP procedures in infants aged up to 1 year. ERCP was indicated in cholestatic infants with suspicion of biliary obstruction. The most common diagnosis was biliary atresia (48%), choledochal cysts (13%), and choledocholithiasis (4%). The procedure complication rate was 13.7%. Hyperamylasemia occurred in 12.9%. More severe complications were rare-0.8% of ERCP procedure. There were no cases of postprocedural pancreatitis or death. Our study has proved that ERCP is a safe and reliable method in this age group. Its high specificity and negative predictive value for extrahepatic biliary atresia can prevent unnecessary surgeries in patients with normal bile ducts or endoscopically treatable pathologies.


Subject(s)
Choledocholithiasis , Cholestasis , Pancreatitis , Cholangiopancreatography, Endoscopic Retrograde/adverse effects , Choledocholithiasis/diagnostic imaging , Choledocholithiasis/surgery , Cholestasis/etiology , Humans , Hyperbilirubinemia , Infant
4.
Pediatr Surg Int ; 36(8): 917-924, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32561985

ABSTRACT

PURPOSE: Analysis of surgical management and survival of pediatric patients with gastric tumors treated at our institution. METHODS: A retrospective study of patients with primary gastric tumors treated between 1993 and 2018 was conducted. RESULTS: Eight patients, five girls and three boys, were diagnosed with gastric tumors at an average age of 10.4 years (1 day-15.4 years). Surgical management included Billroth type I procedure in five and tumor excision in three patients. Histology revealed gastrointestinal stromal tumor (GIST) in four patients and one of each of schwannoma, myofibroblastic tumor, hamartoma and teratoma. Microscopically clear margins were reported in six patients. Repeated local recurrence occurred in three patients (2 × GIST, 1 × myofibroblastic tumors) who consequently underwent three, four and six reoperations. One of these patients had liver metastases, which were managed with ligation of the hepatic arteries. This patient was also diagnosed with a lung hamartoma, which was treated with a lobectomy. Survival rate was 100% with a median follow-up of 8.6 years (7 months-25.5 years). CONCLUSIONS: Gastric tumors are rare in children and represent a management challenge. Repeated recurrence of GISTs and myofibroblastic tumors remains frequent even after complete resection and may necessitate multiple surgeries, therefore patients require a lifelong follow-up.


Subject(s)
Gastrectomy/methods , Gastrointestinal Neoplasms/surgery , Hamartoma/surgery , Neoplasm Recurrence, Local/surgery , Neoplasms, Muscle Tissue/surgery , Neurilemmoma/surgery , Teratoma/surgery , Adolescent , Child , Child, Preschool , Female , Gastrointestinal Neoplasms/pathology , Hamartoma/pathology , Humans , Infant , Infant, Newborn , Male , Neoplasms, Muscle Tissue/pathology , Neurilemmoma/pathology , Retrospective Studies , Survival Analysis , Teratoma/pathology , Treatment Outcome
5.
J Immunol Res ; 2020: 3074313, 2020.
Article in English | MEDLINE | ID: mdl-32190704

ABSTRACT

Necrotizing enterocolitis (NEC) is a severe gastrointestinal disease affecting mainly preterm newborns. It is characterized by unexpected onset and rapid progression with specific diagnostic signs as pneumatosis intestinalis or gas in the portal vein appearing later in the course of the disease. Therefore, we analyzed diagnostic and prognostic potential of the markers of early NEC pathogenesis, such as excessive inflammatory response (serum amyloid A (SAA)) and gut epithelium damage (intestinal and liver fatty acid-binding protein (I-FABP and L-FABP, respectively) and trefoil factor-3 (TFF-3)). We used ELISA to analyze these biomarkers in the urine of patients with suspected NEC, either spontaneous or surgery-related, or in infants without gut surgery (controls). Next, we compared their levels with the type of the disease (NEC or sepsis) and its severity. Already at the time of NEC suspicion, infants who developed NEC had significantly higher levels of all tested biomarkers than controls and higher levels of I-FABP and L-FABP than those who will later develop sepsis. Infants who will develop surgery-related NEC had higher levels of I-FABP and L-FABP than those who will develop sepsis already during the first 6 hours after the abdominal surgery. I-FABP was able to discriminate between infants who will develop NEC or sepsis and the SAA was able to discriminate between medical and surgical NEC. Moreover, the combination of TFF-3 with I-FABP and SAA could predict pneumatosis intestinalis, and the combination of I-FABP, L-FABP, and SAA could predict gas in the portal vein or long-term hospitalization and low SAA predicts early full enteral feeding. Thus, these biomarkers may be useful not only in the early, noninvasive diagnostics but also in the subsequent NEC management.


Subject(s)
Biomarkers/urine , Enterocolitis, Necrotizing/diagnosis , Fatty Acid-Binding Proteins/urine , Inflammation/diagnosis , Intestinal Mucosa/pathology , Sepsis/diagnosis , Serum Amyloid A Protein/urine , Trefoil Factor-3/urine , Diagnosis, Differential , Disease Progression , Early Diagnosis , Female , Humans , Infant, Newborn , Male , Prognosis , Veins/physiology
6.
PLoS One ; 14(1): e0210805, 2019.
Article in English | MEDLINE | ID: mdl-30653580

ABSTRACT

BACKGROUND: Endoscopic retrograde cholangiopancreatography (ERCP) is seldom used in children, and published series have limited numbers of pediatric patients. The aim of this retrospective observational study was to assess the efficacy and safety of pediatric ERCP in a large group of children. METHODS: Data were evaluated from 626 children with biliopancreatic disorders admitted to University Hospital Motol, Prague, between January 1999 and January 2018. Clinical data were obtained by retrospective evaluation of our database of pediatric ERCP procedures and from clinical records. RESULTS: We performed 856 ERCPs on 626 pediatric patients; of these procedures, 59% were therapeutic and 41% were diagnostic. We achieved 96% technical success. Indications for ERCP and pathological findings differed in different age groups. The main role of ERCP was in excluding biliary atresia in those aged less than one year. In children aged 1 to 6 years, the most frequent diagnoses were choledochal cyst followed by choledocholithiasis. In children aged 7 to 12 years and 13 to 19 years, the most frequent diagnoses were choledocholithiasis followed by pancreatic pathology. The overall complication rate found in this study was similar to rates observed in adult populations. CONCLUSIONS: Our study shows the efficacy and safety of diagnostic and therapeutic ERCP in a large series of infants and children with technical success and complication rates comparable to those in adults. Our data show that ERCP had different roles in different age groups of children.


Subject(s)
Cholangiopancreatography, Endoscopic Retrograde/methods , Adolescent , Age Factors , Biliary Tract Diseases/diagnosis , Biliary Tract Diseases/surgery , Child , Child, Preschool , Cholangiopancreatography, Endoscopic Retrograde/adverse effects , Cholangiopancreatography, Endoscopic Retrograde/instrumentation , Czech Republic , Female , Humans , Infant , Infant, Newborn , Male , Pancreatic Diseases/diagnosis , Pancreatic Diseases/surgery , Postoperative Complications/radiotherapy , Retrospective Studies , Safety , Treatment Outcome , Young Adult
7.
Pediatr Surg Int ; 35(4): 449-455, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30386905

ABSTRACT

AIM OF STUDY: Duodenum-preserving resection of the pancreatic head (DPRPH) with Roux-en-Y pancreatojejunostomy is a procedure used to remove focal pathological lesions of the pancreatic head. Although predominantly used in adult patients, it is both safe and effective in children. The aim of this study was to review our experience with this procedure, with focus on its indications, complications and long-term outcomes. METHODS: A retrospective analysis of pediatric patients who underwent DPRPH between 1994 and 2015 was performed. Patient files were reviewed for demographic, diagnostic, operative and histological details, postoperative complications. Patients were contacted telephonically and sent questionnaires to determine long-term outcomes. RESULTS: The study cohort consists of 21 patients, 14 girls and 7 boys, with an average age of 11.72 years (range 3 months to 18.6 years), who underwent DPRPH with end-to-end anastomosis of the jejunum to the pancreatic body (Roux-en-Y anastomosis). In four cases the head and also part of the body of the pancreas was resected. In the remaining 17 cases, only the head of the pancreas was resected. Indications for DPRPH were solid pseudopapillary tumor of the pancreas (n = 10), trauma (n = 8), pancreas divisum (n = 1), focal congenital hyperinsulinism (n = 1) and pancreatic cyst (n = 1). The length of follow-up ranged from 1 to 22 years (average 9.66). One patient developed a biliary fistula, which closed spontaneously within 2 weeks after stent insertion. A recurrence of abdominal pain was reported in two patients, occurring at 7 months after the operation in one patient and at 1 year in the other. Pancreatic endocrine insufficiency did not occur in any of the 21 patients. Seven patients currently require a low fat diet, five of which need pancreatic enzyme supplementation. An additional two patients need enzyme supplementation without dietary restriction. CONCLUSION: DPRPH is a safe and effective procedure for the treatment of large focal pathological lesions of the pancreatic head in children. As a less invasive procedure than pancreatoduodenectomy, it is more appropriate for the developing child.


Subject(s)
Anastomosis, Roux-en-Y/methods , Duodenum/surgery , Pancreas/surgery , Pancreatectomy/methods , Pancreatic Neoplasms/surgery , Pancreaticojejunostomy/methods , Postoperative Complications/prevention & control , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Male , Retrospective Studies , Time Factors
8.
Eur J Pediatr Surg ; 28(3): 250-254, 2018 Jun.
Article in English | MEDLINE | ID: mdl-28355667

ABSTRACT

INTRODUCTION: A retrospective study was performed to evaluate the clinical features, diagnostic methods, and treatment alternatives in children with pancreas divisum (PD). MATERIALS AND METHODS: Patients who underwent treatment for PD between 1999 and 2014 at our department were evaluated for sex, age, presenting symptoms, physical examination findings, biochemical markers, diagnostic methods, treatment modalities, and results of treatment during follow-up. RESULTS: Seven patients who underwent treatment of symptomatic PD were included in the study. The median for follow-up period was 8 years (from 26 months to 16 years). Male-to-female ratio was 4:3 and the median age at presentation was 11 years (2-14 years). Presenting symptoms were recurrent episodic epigastric pain. Pancreatitis was documented by elevated amylase or lipase levels. Endoscopic retrograde cholangiopancreatography (ERCP) was the method of diagnosis of PD in all patients. Five patients had complete PD and two had incomplete variants. Three patients improved after ERCP papillotomy. In three patients, papillotomy was unsuccessful but they have only mild episodes of pancreatitis. One patient presented at the age of 4 years with recurrent pancreatitis. She was treated surgically by duodenum-preserving resection of the pancreatic head (DPRPH) because of severe recurrent pancreatitis occurring even after ERCP papillotomy. The patient is 26 months after operation without any reported problems. CONCLUSION: Patients with symptomatic PD are indicated for ERCP papillotomy attempt. If there is not improvement after ERCP, then recurrent bouts of severe pancreatitis are considered as an indication for surgical procedure. DPRPH is a safe and feasible surgical alternative.


Subject(s)
Pancreas/abnormalities , Pancreatectomy/methods , Pancreatic Diseases/surgery , Adolescent , Child , Child, Preschool , Cholangiopancreatography, Endoscopic Retrograde , Duodenum , Female , Follow-Up Studies , Humans , Male , Pancreas/diagnostic imaging , Pancreas/surgery , Pancreatic Diseases/congenital , Pancreatic Diseases/diagnostic imaging , Retrospective Studies , Sphincterotomy, Endoscopic , Treatment Outcome
9.
Scand J Gastroenterol ; 52(8): 870-875, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28388849

ABSTRACT

BACKGROUND AND STUDY AIMS: The aim of this study was to assess the significance and safety of endoscopic retrograde cholangiopancreatography (ERCP) in diagnosing and treating bile duct injuries in children. PATIENTS AND METHODS: Fourteen pediatric patients, with traumatic or postoperative bile duct injury, in which ERCP was performed, were retrospectively evaluated. RESULTS: We performed 46 ERCP and 12 endoscopic papillotomies in children with suspected bile duct injuries. A bile stent was primarily inserted in 13 patients and there were 20 replacements. Endoscopic treatment of bile leakage without need for bile duct sutures or reconstruction was successful in 85.7%. Post ERCP complications included cholangitis and recurrent bleeding, which occurred only in two patients each. CONCLUSIONS: ERCP and endoscopic bile stent insertion is a highly effective, minimally-invasive treatment for bile duct injury and should be included as part of the therapeutic procedures in pediatric patients with suspected bile duct injury.


Subject(s)
Bile Duct Diseases/surgery , Bile Ducts/injuries , Bile Ducts/surgery , Cholangiopancreatography, Endoscopic Retrograde , Postoperative Complications/surgery , Adolescent , Child , Child, Preschool , Cholangitis/etiology , Czech Republic , Female , Humans , Infant , Male , Postoperative Hemorrhage/etiology , Retrospective Studies , Sphincterotomy, Endoscopic , Stents , Treatment Outcome
10.
Prz Gastroenterol ; 12(4): 303-309, 2017.
Article in English | MEDLINE | ID: mdl-29359001

ABSTRACT

INTRODUCTION: Biliary cysts with an abnormal pancreatobiliary junction are one of the most common pancreatobiliary malformations. The main symptom is cholestasis; endoscopic retrograde cholangiopancreatography (ERCP) plays a key role in diagnosis. AIM: Retrospective evaluation of ERCP performed to diagnose abnormalities of the pancreatobiliary junction. MATERIAL AND METHODS: We retrospectively evaluated ERCP performed to diagnose abnormalities of the pancreatobiliary junction, mainly choledochal cysts, in 112 children between 1990 and 2011. RESULTS: We performed 112 examinations of 50 children with abnormal pancreatobiliary junction and choledochal cysts (15 males and 35 females, average age: 5 years, range: 1 month - 15 years). Cysts were associated with a common channel in 37 (74%) cases, were not associated with a common channel in 9 (18%) cases, and in 3 (6%) cases the common channel lacked cysts. We performed endoscopic papilla sphincterotomy on 33 (66%) patients; endoscopic drainage was performed 62 times, including 17 patients without papilla sphincterotomy. In 15 (30%) cases, we only performed sphincterotomy. Extraction of lithiasis was done in 2 (4%) cases. Both ERCP and magnetic resonance cholangiopancreatography (MRCP) were performed on 13 patients. There was concordance of the choledochal cyst and of the type of cyst in both methods; however, common channels could not be observed by MRCP. There was 1 serious complication (perforation after sphincterotomy) and 11 (9%) mild adverse events. CONCLUSIONS: When performed at an expert centre, ECRP is a safe and reliable procedure for children with choledochal cysts and/or an abnormal pancreatobiliary junction. Endoscopic retrograde cholangiopancreatography remains a reasonable alternative because MRCP has a limited ability to diagnose the precise anomalies of the pancreatobiliary junction and has no therapeutic capabilities.

11.
Article in English | MEDLINE | ID: mdl-27752149

ABSTRACT

BACKGROUND: This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. METHODS: CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria. The accuracy of CT was evaluated. RESULTS: The agreement rate in CT diagnosis between two radiologists was 100%. In 75% the lesions were located in the lower lobes. An overlap of 71% in CT and histopathological diagnoses was reached. The least matching diagnosis was type 2 CPAM. CONCLUSION: Contrast enhanced chest CT is very accurate in characterizing the BPM spectrum and provides important information on lesion type and structure.


Subject(s)
Lung/abnormalities , Tomography, X-Ray Computed/standards , Child, Preschool , Contrast Media , Female , Humans , Infant , Lung/diagnostic imaging , Male , Respiratory System Abnormalities/diagnostic imaging , Respiratory System Abnormalities/pathology , Sensitivity and Specificity
12.
J Immunol Res ; 2016: 5727312, 2016.
Article in English | MEDLINE | ID: mdl-27110575

ABSTRACT

Necrotizing enterocolitis (NEC) is severe disease of gastrointestinal tract, yet its early symptoms are nonspecific, easily interchangeable with sepsis. Therefore, reliable biomarkers for early diagnostics are needed in clinical practice. Here, we analyzed if markers of gut mucosa damage, caspase cleaved cytokeratin 18 (ccCK18) and intestinal fatty acid-binding protein (I-FABP), could be used for differential diagnostics of NEC at early stage of disease. We collected paired serum (at enrollment and week later) and urine (collected for two days in 6 h intervals) samples from 42 patients with suspected NEC. These patients were later divided into NEC (n = 24), including 13 after gastrointestinal surgery, and sepsis (n = 18) groups using standard criteria. Healthy infants (n = 12), without any previous gut surgery, served as controls. Both biomarkers were measured by a commercial ELISA assay. There were no statistically significant differences in serum ccCK18 between NEC and sepsis but NEC patients had significantly higher levels of serum and urinary I-FABP than either sepsis patients or healthy infants. Urinary I-FABP has high sensitivity (81%) and specificity (100%) and can even distinguish NEC from sepsis in patients after surgery. Urinary I-FABP can be used to distinguish NEC from neonatal sepsis, including postoperative one, better than abdominal X-ray.


Subject(s)
Enterocolitis, Necrotizing/diagnosis , Fatty Acid-Binding Proteins/urine , Sepsis/diagnosis , Biomarkers/urine , Case-Control Studies , Diagnosis, Differential , Early Diagnosis , Enterocolitis, Necrotizing/pathology , Enterocolitis, Necrotizing/urine , Female , Humans , Infant , Keratin-18/urine , Male , Sepsis/pathology , Sepsis/urine
13.
Scand J Gastroenterol ; 51(2): 218-24, 2016.
Article in English | MEDLINE | ID: mdl-26200695

ABSTRACT

BACKGROUND AND STUDY AIMS: Trauma is one of the most common causes of morbidity and mortality in the pediatric population. The diagnosis of pancreatic injury is based on clinical presentation, laboratory and imaging findings, and endoscopic methods. CT scanning is considered the gold standard for diagnosing pancreatic trauma in children. PATIENTS AND METHODS: This retrospective study evaluates data from 25 pediatric patients admitted to the University Hospital Motol, Prague, with blunt pancreatic trauma between January 1999 and June 2013. RESULTS: The exact grade of injury was determined by CT scans in 11 patients (47.8%). All 25 children underwent endoscopic retrograde cholangiopancreatography (ERCP). Distal pancreatic duct injury (grade III) was found in 13 patients (52%). Proximal pancreatic duct injury (grade IV) was found in four patients (16 %). Major contusion without duct injury (grade IIB) was found in six patients (24%). One patient experienced duodeno-gastric abruption not diagnosed on the CT scan. The diagnosis was made endoscopically during ERCP. Grade IIB pancreatic injury was found in this patient. One patient (4%) with pancreatic pseudocyst had a major contusion of pancreas without duct injury (grade IIA). Four patients (16%) with grade IIB, III and IV pancreatic injury were treated exclusively and nonoperatively with a pancreatic stent insertion and somatostatine. Two patients (8%) with a grade IIB injury were treated conservatively only with somatostatine without drainage. Eighteen (72 %) children underwent surgical intervention within 24 h after ERCP. CONCLUSION: ERCP is helpful when there is suspicion of pancreatic duct injury in order to exclude ductal leakage and the possibility of therapeutic intervention. ERCP can speed up diagnosis of higher grade of pancreatic injuries.


Subject(s)
Cholangiopancreatography, Endoscopic Retrograde , Contusions/diagnosis , Pancreatic Ducts/injuries , Wounds, Nonpenetrating/complications , Adolescent , Child , Child, Preschool , Contusions/etiology , Humans , Retrospective Studies , Rupture/diagnosis , Rupture/etiology , Tomography, X-Ray Computed , Trauma Severity Indices
14.
PLoS One ; 10(11): e0143939, 2015.
Article in English | MEDLINE | ID: mdl-26618708

ABSTRACT

Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.


Subject(s)
Alagille Syndrome/diagnosis , Alagille Syndrome/genetics , Biliary Atresia/genetics , Calcium-Binding Proteins/genetics , Intercellular Signaling Peptides and Proteins/genetics , Membrane Proteins/genetics , Codon, Nonsense , Czech Republic , Diagnosis, Differential , Female , Frameshift Mutation , Humans , Infant, Newborn , Jagged-1 Protein , Male , Mutation , Serrate-Jagged Proteins
15.
Klin Mikrobiol Infekc Lek ; 18(4): 102-8, 2012 Aug.
Article in Czech | MEDLINE | ID: mdl-23172021

ABSTRACT

BACKGROUND: Mucormycosis is an invasive fungal disease severely complicating treatment of patients with hematologic diseases. Effective therapy is represented by the combination of surgery and amphotericin B administration and early initiation of the therapy is necessary for favorable outcome. The first clinical symptoms are usually non-specific and this can lead to late therapy onset. The objective of this retrospective work was to determine the frequency, risk factors and outcome of invasive mucormycosis in pediatric hematology patients. MATERIAL AND METHODS: The study cohort comprised 399 patients diagnosed with hematologic diseases in the Department of Pediatric Hematology and Oncology (DPHO), University Hospital Motol, Prague between 2005 and 2010. Risk factors for the development of mucormycosis, clinical symptoms and radiology and laboratory results were retrospectively evaluated. So were the therapy used and outcomes. The findings were analyzed using Fisher's exact test. RESULTS: During the selected period, mucormycosis was detected in 8 patients diagnosed with hematologic disease. The incidence of mucormycosis was 1.75 %. These conditions accounted for 20.6 % of all mycoses. In five patients, it was found as isolated infection; three cases were associated with other mycoses (one with candidiasis, two with aspergillosis). The most frequent underlying disease was acute leukemia; the most common risk factor was severe prolonged neutropenia (median duration 21.5 days). Three of eight patients survived mucormycosis, a mortality rate of 62.5 %. The effective therapy was amphotericin B administration in three patients (p = 0.02); in two of them, it was combined with radical surgery. CONCLUSION: In the cohort, the proportion of mucormycosis cases was surprisingly high when compared with other fungal diseases. Continuous surveillance of mucormycosis in the DPHO is needed. There was no significant influence of the combination of radical surgery and amphotericin B administration as compared to administration of amphotericin B alone. Nevertheless, according to the published data, we consider this approach as an optimal strategy for the management of mucormycosis at the present time.


Subject(s)
Hematologic Neoplasms/immunology , Immunocompromised Host , Mucormycosis/diagnosis , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Mucormycosis/microbiology
16.
Clin Pract ; 2(1): e3, 2012 Jan 01.
Article in English | MEDLINE | ID: mdl-24765402

ABSTRACT

Right-sided traumatic diaphragmatic rupture in childhood is a very rare injury. Diaphragmatic rupture often manifests itself later, after an organ progressively herniates into the pleural cavity. When the patient is tubed, the ventilation pressure does not allow herniation of an organ, which occurs when the patient is ex-tubed. We present a patient with a delayed diagnose of right sided diaphragmatic rupture with a complicated post-operation state.

17.
Cancer Genet Cytogenet ; 194(2): 82-7, 2009 Oct 15.
Article in English | MEDLINE | ID: mdl-19781440

ABSTRACT

Hepatoblastoma is the most common primary hepatic tumor in children, and only a limited number of detailed karyotypic analyses have been reported to date. In the present study, cytogenetic abnormalities were identified in nine cases of hepatoblastoma from a single institution. Among characteristic chromosomal changes detected were simple numerical aberrations, structural alterations of chromosomes 1, 2, and 8, and the recurrent unbalanced rearrangements der(4)t(1;4)(q25.2;q35.1) and der(6)t(1;6)(q21;q26). Array comparative genomic hybridization was applied in four of the cases. The combined cytogenetic, molecular cytogenetic, and histopathologic analyses are presented here, together with clinical data. The results substantially confirm previous findings of aberrations involving chromosomal loci on 1q, 2 or 2q, 4q, 6q, 8 or 8q, and 20 as significant in the development and clinical course of this disease.


Subject(s)
Hepatoblastoma/genetics , Liver Neoplasms/genetics , Child , Child, Preschool , Chromosome Aberrations , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 6 , Chromosomes, Human, Pair 8 , Comparative Genomic Hybridization , Cytogenetic Analysis , Female , Hepatoblastoma/pathology , Humans , Infant , Infant, Newborn , Liver Neoplasms/pathology , Male , Oligonucleotide Array Sequence Analysis/methods
18.
Pediatr Surg Int ; 24(7): 851-3, 2008 Jul.
Article in English | MEDLINE | ID: mdl-18438674

ABSTRACT

A rare injury of stomach associated with vertebral trauma in a 10-year-old girl, a victim of a traffic accident, is presented. Early X-ray and computerized tomography scan revealed no free abdominal air, only signs of pancreas contusion and fracture of the Th 12 and L 1 vertebral body were evident. Transection of stomach was revealed during endoscopy (an attempt to perform retrograde cholangio-pancreaticography) 20 h after the trauma. Primary suture of the rupture was performed. Sepsis and multiple organ dysfunction syndrome developed in the postoperative course. The girl subsequently underwent four laparotomies for abdominal infection, bleeding and colonic stricture. After resolution of the abdominal disorders the girl underwent surgical stabilization of spine. Currently, 2 years after trauma, she is doing well without any gastroenterologic dysfunction.


Subject(s)
Abdominal Injuries/surgery , Lumbar Vertebrae/injuries , Spinal Injuries/surgery , Stomach/injuries , Thoracic Vertebrae/injuries , Wounds, Nonpenetrating/surgery , Abdominal Injuries/diagnosis , Accidents, Traffic , Child , Endoscopy, Gastrointestinal , Female , Follow-Up Studies , Humans , Laparotomy/methods , Rupture , Spinal Injuries/diagnosis , Stomach/surgery , Suture Techniques , Tomography, X-Ray Computed , Trauma Severity Indices , Vertebroplasty/methods , Wounds, Nonpenetrating/diagnosis
19.
J Pediatr Surg ; 41(7): e29-30, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16818045

ABSTRACT

This report describes a very rare case of lipoblastoma of a kidney affecting a small child. A 2-year-old boy was admitted for a palpable mass in the right abdominal quadrant. A preoperative examination revealed a tumor of uncertain origin. A simple nephrectomy was performed. Postoperative histologic examination confirmed lipoblastoma of the kidney. No other therapy was necessary. The child is well, without any sign of the disease 9 years after the tumor removal.


Subject(s)
Kidney Neoplasms/pathology , Child, Preschool , Humans , Kidney Neoplasms/surgery , Male , Nephrectomy
20.
Int J Pediatr Otorhinolaryngol ; 70(6): 1103-7, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16574248

ABSTRACT

OBJECTIVE: This study examined a cohort of pediatric patients treated for suspected corrosive injury of the oesophagus in the ENT department between 1994 and 2003. METHODS: During the study period we examined 337 patients. All patients were treated according to an individual diagnostico-therapeutic protocol that included: foremost, early rigid oesophagoscopy; intensive medical therapy; nasogastric tube placement; and/or surgical intervention. RESULTS: Our proposed system of grading on a scale from 0 to 4 was used to classify the findings upon oesophagoscopy. One hundred eighty eight patients (55.7%) had a negative exam; 1st degree corrosive injury was present in 58 patients (17.4%); 2nd and 3rd degree injury in 81 patients (24%); and 4th degree was found in 10 patients (3%). CONCLUSIONS: Because the endoscopic findings were positive in 44% of patients with suspected corrosive injury, early rigid oesophagoscopy is indicated in all patients suspected of having corrosive injury even in the absence of clinical symptoms.


Subject(s)
Burns, Chemical/etiology , Caustics/toxicity , Esophagus/injuries , Anti-Bacterial Agents/therapeutic use , Burns, Chemical/classification , Burns, Chemical/therapy , Catheterization , Child, Preschool , Cohort Studies , Critical Care , Enzyme Inhibitors/therapeutic use , Esophageal Stenosis/chemically induced , Esophageal Stenosis/surgery , Esophagoscopy , Glucocorticoids/therapeutic use , Hospitalization , Humans , Infant , Injury Severity Score , Intubation, Gastrointestinal , Proton Pump Inhibitors , Retrospective Studies
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