Search

Background: The concept of failure to rescue (FTR) has been used to evaluate the quality of care in several surgical specialties but has not been well‐studied after living donor liver transplantation (LDLT) in children. Methods: This study retrospectively reviewed 500 pediatric LDLT performed at a single center between 1993 and 2022. The recipient outcomes were assessed by means of patient and graft survival rates, retransplantation rates, and arterial/portal/biliary complication rates. Graft and patient losses secondary to these complications were calculated regarding FTR for patients (FTRp) and grafts (FTRg). Results: Overall 1‐ and 5‐year patient survival rates were 94.5% and 92.1%, respectively, the corresponding figures for graft survival being 92.7% and 89.8%. One‐year hepatic artery complication rate was 3.6% (n = 18 cases), the respective rates for portal vein complications and biliary complications being 5.7% (n = 57) and 15.6% (n = 101). One‐year FTRp rates for hepatic artery thrombosis, portal vein thrombosis, anastomotic biliary stricture, and intrahepatic biliary stricture were 28.6%, 9.4%, 3.6%, and 0%, respectively. The corresponding FTRg rates being 21.4%, 6.3%, 0%, and 36.4%. Conclusion: Such novel analytical method may offer valuable insights for optimizing quality of care in pediatric LDLT. [ABSTRACT FROM AUTHOR]

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3‐kinase–protein kinase B–mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM‐like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype–phenotype correlation studies in guiding clinicians' informed decision‐making regarding patient care. [ABSTRACT FROM AUTHOR]

Involution of a rapidly involuting congenital hemangioma is an unknown cause of neonatal ascites. As involution phase is completed by 14 months after birth, conservative management with diuretics and drainage is possible and may avoid surgical resection. [ABSTRACT FROM AUTHOR]

The occurrence of a pathological fracture in children requires a rigorous diagnostic approach in order to establish the etiology and to develop a precise therapeutic strategy. Several causes are associated with these fractures, the most frequent being benign tumors in children in developed countries and chronic osteomyelitis in developing countries. More rarely, malignant tumors must however always be considered. The differential diagnosis on imaging may be difficult to establish between bone tumors and chronic infection. Surgical biopsy is therefore often performed to establish the precise origin of the fracture. We report the case of an adamantinoma (osteofibrous dysplasia-like) of the fibula in a 7-year-old child, discovered during the management of a pathologic fracture. The presumed diagnosis before biopsy was chronic osteomyelitis. A 14-cm-resection of the affected fibula was performed with good functional result. Differential diagnosis between adamantinoma, osteofibrous dysplasia and osteofibrous dysplasia-like adamantinoma remains very challenging. [ABSTRACT FROM AUTHOR]

Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene, is characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial) agenesis of the corpus callosum, cerebellar dysplasia, arachnoid cysts, frontal subcortical heterotopia, and midline polymicrogyria. When hearing loss is managed early, most patients have minor or no impairment of motor and cognitive development, despite the presence of brain malformations. We report 2 cases of Chudley-McCullough syndrome, one presenting with congenital deafness and normal development except for speech delay and one presenting prenatally with ventriculomegaly and an atypical postnatal course characterized by epileptic spasms, deafness, and moderate intellectual disability. These highlight the challenges faced by clinicians when predicting prognosis based on pre- or postnatal imaging of brain malformations. We have also reviewed the phenotype and genotype of previous published cases to better understand Chudley-McCullough syndrome. [ABSTRACT FROM AUTHOR]

Objective: SLC13A3 encodes the plasma membrane Na+ /dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as N-acetylaspartate (NAA). SLC13A3 is mainly expressed in kidney, in astrocytes, and in the choroid plexus. We describe two unrelated patients presenting with acute, reversible (and recurrent in one) neurological deterioration during a febrile illness. Both patients exhibited a reversible leukoencephalopathy and a urinary excretion of α-ketoglutarate (αKG) that was markedly increased and persisted over time. In one patient, increased concentrations of cerebrospinal fluid NAA and dicarboxylates (including αKG) were observed. Extensive workup was unsuccessful, and a genetic cause was suspected.Methods: Whole exome sequencing (WES) was performed. Our teams were connected through GeneMatcher.Results: WES analysis revealed variants in SLC13A3. A homozygous missense mutation (p.Ala254Asp) was found in the first patient. The second patient was heterozygous for another missense mutation (p.Gly548Ser) and an intronic mutation affecting splicing as demonstrated by reverse transcriptase polymerase chain reaction performed in muscle tissue (c.1016 + 3A > G). Mutations and segregation were confirmed by Sanger sequencing. Functional studies performed on HEK293T cells transiently transfected with wild-type and mutant SLC13A3 indicated that the missense mutations caused a marked reduction in the capacity to transport αKG, succinate, and NAA.Interpretation: SLC13A3 deficiency causes acute and reversible leukoencephalopathy with marked accumulation of αKG. Urine organic acids (especially αKG and NAA) and SLC13A3 mutations should be screened in patients presenting with unexplained reversible leukoencephalopathy, for which SLC13A3 deficiency is a novel differential diagnosis. ANN NEUROL 2019;85:385-395. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the outcome of pediatric living donor liver transplantation (LDLT) regarding portal vein (PV) reconstruction, ABO compatibility, and impact of maternal donation on graft acceptance. Background: LDLT and ABO-mismatched transplantation constitute feasible options to alleviate organ shortage in children. Vascular complications of portal hypoplasia in biliary atresia (BA) and acute rejection (AR) are still major concerns in this field. Methods: Data from 250 pediatric LDLT recipients, performed at Cliniques Universitaires Saint-Luc between July 1993 and June 2012, were collected retrospectively. Results were analyzed according to ABO matching and PV complications. Uni- and multivariate analyses were performed to study the impact of immunosuppression, sex matching, and maternal donation on AR rate. Results: Overall, the 10-year patient survival rate was 93.2%. Neither patient or graft loss nor vascular rejection, nor hemolysis, was encountered in the ABO nonidentical patients (n=58), provided pretransplant levels of relevant isoagglutinins were below 1/16. In BA recipients, the rate of PV complications was lower after portoplasty (4.6%) than after truncal PV anastomosis (9.8%) and to jump graft interposition (26.9%; P=0.027). In parental donation, maternal grafts were associated with higher 1-year AR-free survival (55.2%) than paternal grafts (39.8%; P=0.041), but only in BA patients. Conclusions: LDLT, including ABO-mismatched transplantation, constitutes a safe and efficient therapy for liver failure in children. In BA patients with PV hypoplasia, portoplasty seems to constitute the best technique for PV reconstruction. Maternal donation might be a protective factor for AR. [ABSTRACT FROM AUTHOR]

Aims: The typical ultrasound features of pleomorphic adenomas are considered to be the well-defined contour, the regular, sometimes lobulated shape, homogeneous structure and poor vascularization. The goal of our study was to verify the validity of these features and to identify a typical sonoelastographic pattern for pleomorphic adenomas. Patients and Methods: Between April 2007 and February 2010, 70 salivary gland masses were examined prospectively (58 in the parotid gland, 12 in the submandibular gland). The following features were targeted: size, limits, contour, structure, echogenicity, vascularization, elasticity/stiffness. Results: Of the 70 tumors, 32 (45.7%) were pleomorphic adenomas, 12 (17.1%) Warthin tumors, 9 (12.8%) other benign tumors, 13 (18.5%) primary malignant tumors, 3 metastases from carcinoma, and 1 non-Hodgkin lymphoma. Among pleomorphic adenomas, 15 (46.9%) were inhomogeneous, 7 (21.9%) contained necrotic areas and 14 (43.7%) were well-vascularized. The lobulated contour was identified in 14 pleomorphic adenomas (43.7%), no other benign tumor presented this type of contour, but it was identified in 2 malignant tumors (15.3%). On sonoelastography, most pleomorphic adenomas were heterogeneous. The elastic component represented more than 50% of the tumor tissue in 22 cases (68.7%). This aspect was also identified for 6 malignant tumors (46.1%). Conclusions: Our results demonstrate that features such as heterogeneous structure, rich vascularization and intra-tumoral necrosis may be identified in a significant number of pleomorphic adenomas. The most specific element in our group was the presence of a lobulated contour, which was not seen in any other benign tumor, but may rarely appear in certain malignant tumors. The elastographic aspect was heterogeneous for most tumors, but the elastic composition identified in most pleomorphic adenomas was also present in a significant proportion of malignant tumors. Therefore, a typical sonoelastographic pattern for pleomorphic adenomas could not be identified. [ABSTRACT FROM AUTHOR]

Objectives: Cirrhotic children wait‐listed for liver transplant are prone to bleeding from gastrointestinal varices. Grade 2‐3 esophageal varices, red signs, and gastric varices are well‐known risk factors. However, the involvement of hemostatic factors remains controversial because of the rebalanced state of coagulation during cirrhosis. Methods: Children suffering from decompensated cirrhosis were prospectively included while being on waitlist. Portal hypertension was assessed by ultrasound and endoscopy. Coagulopathy was evaluated through conventional tests, thromboelastometry, and platelet function testing. The included children were followed up until liver transplantation, and all bleeding episodes were recorded. Children with or without bleeding were compared according to clinical, radiological, endoscopic, and biological parameters. In addition, validation of a predictive model for risk of variceal bleeding comprising of grade 2‐3 esophageal varices, red spots, and fibrinogen level <150 mg/dL was applied on this cohort. Results: Of 20 enrolled children, 6 had upper gastrointestinal bleeding. Significant differences were observed in fibrinogen level, adenosine diphosphate, and thrombin‐dependent platelet aggregation. The model used to compute the upper gastrointestinal bleeding risk had an estimated predictive performance of 81.0%. Platelet aggregation analysis addition improved the estimated predictive performance up to 89.0%. Conclusions: We demonstrated an association between hemostatic factors and the upper gastrointestinal bleeding risk. A low fibrinogen level and platelet aggregation dysfunction may predict the risk of bleeding in children with decompensated cirrhosis. A predictive model is available to assess the upper gastrointestinal bleeding risk but needs further investigations. Clinicaltrials.gov number: NCT03244332 [ABSTRACT FROM AUTHOR]

The article presents a quiz on diagnosing a patient with large cervical mass who has a history of breast cancer.

The aim of the paper is to provide a comprehensive overview on the applications of real time sonoelastography (SE) in the diagnosis of superficial lymphadenopathy. Some technical aspects of performing SE are presented as a preamble. The typical appearance of benign and malignant nodes is illustrated. The paper discusses and depicts the various elastographic scores in use. It also provides a critical appraisal of the relative strain ratio (SR) or stiffness index. Shear wave elastography, as a novel technique, is mentioned. In conclusion, hardness on more than 50% of the node surface or SR > 1.5 is fair to good indicators of malignancy. Work is still needed both to fully understand the various appearance of disease and to standardize the application. [ABSTRACT FROM AUTHOR]

The aim of the paper is to review and illustrate the role of sonoelastography in the diagnostic and therapeutic approach of prostate cancer. The examination technique and normal appearance are presented. The paper describes and illustrates the appearance of prostate cancer and suggested diagnostic scores. Artifacts, causes for false results and limitations are discussed and also illustrated. The diagnostic influence of intraprostatic tumor location, tumor volume and Gleason score are presented. The paper also reviews the statistical diagnostic value of the method, the relation to prostate biopsy and magnetic resonance assessment. In the end, potential uses and future developments of the method are mentioned. [ABSTRACT FROM AUTHOR]