Inner posture as aspect of global meaning in healthcare: a conceptual analysis

Medicine, Health Care and Philosophy - Based on our empirical research on global meaning in people with spinal cord injury and people with stroke, we formulated ‘inner posture’ as a...     

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up

This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome. We present the follow-up of both patients from birth up to age 7 years. Partial trisomy 9p is a frequently described chromosome abnormality. This does not appear to be related to a breakage sensitive locus on chromosome 9p, since the trisomic fragments of the published cases are heterogeneous. In the two cases described here, GTG-banded karyotyping suggested that the 9p breakpoints were similar; DNA marker analysis, however, showed them to be different. Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome.     

Measurements of cervical lymph nodes in children on computed tomography

Background

No normal measurements or specific size criteria have been described for cervical lymph nodes in children.

Objective

To determine the normal measurements of cervical lymph nodes in children on CT.

Materials and methods

We included 142 children (ages 1–17 years) who underwent cervical CT examination after high-energy trauma. We evaluated axial and coronal 2-mm reconstructions for lymph nodes at six cervical levels. For the largest lymph node at each level, we measured diameters in both the long and short axial axes and the long coronal axis.

Results

A total of 733 lymph nodes were measured in 142 children (62% boys, 38% girls). The greatest measured diameters were 14 mm for the short axis in the axial plane, 24 mm for the long axis in the axial plane and 28 mm for the long axis in the coronal plane. The Pearson correlation coefficient for age and lymph node size at Levels IV–VI was in the range of 0.19–0.47.

Conclusion

Lymph nodes with an axial short-axis diameter exceeding 15 mm for Level II and 10 mm for all other cervical levels are uncommon in otherwise healthy children.

     

Imaging of pediatric renal tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper focused on Wilms tumor and nephrogenic rests

Malignant renal tumors account for approximately 6% of pediatric malignancies, with Wilms tumor (WT) representing approximately 90% of pediatric renal tumors. This paper provides consensus-based imaging guidelines for the initial evaluation of a child with suspected WT and follow-up during and after therapy co-developed by the Children's Oncology Group (COG) Diagnostic Imaging and Society for Pediatric Radiology (SPR) oncology committees. The guidelines for Wilms Tumor Imaging in the Society of International Pediatric Oncology (SIOP) are briefly discussed to highlight some of the differences in imaging approach.     

Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary tumor is small. Data on children and adolescents are scarce. Herein, we report two patients from unrelated Dutch families, with HLRCC-related RCC at the ages of 15 and 18 years, and a third patient with an FH mutation and complex renal cysts at the age of 13. Both RCC’s were localized and successfully resected, and careful MRI surveillance was initiated to monitor the renal cysts. One of the patients with RCC subsequently developed an ovarian Leydig cell tumor. A review of the literature identified 10 previously reported cases of HLRCC-related RCC in patients aged younger than 20 years, five of them presenting with metastatic disease. These data emphasize the importance of recognizing HLRCC in young patients to enable early detection of RCC, albeit rare. They support the recommendations from the 2014 consensus guideline, in which genetic testing for FH mutations, and renal MRI surveillance, is advised for HLRCC family members from the age of 8–10 years onwards.     

Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow‐up

This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome. We present the follow‐up of both patients from birth up to age 7 years. Partial trisomy 9p is a frequently described chromosome abnormality. This does not appear to be related to a breakage sensitive locus on chromosome 9p, since the trisomic fragments of the published cases are heterogeneous. In the two cases described here, GTG‐banded karyotyping suggested that the 9p breakpoints were similar; DNA marker analysis, however, showed them to be different. Such DNA studies will be necessary to define the genotype‐phenotype relation in partial trisomy 9p syndrome. © 2002 Wiley‐Liss, Inc.     

Whole-body MRI for initial staging of paediatric lymphoma: prospective comparison to an FDG-PET/CT-based reference standard

Objective

To compare whole-body MRI, including diffusion-weighted imaging (whole-body MRI-DWI), with FDG-PET/CT for staging newly diagnosed paediatric lymphoma.

Methods

A total of 36 children with newly diagnosed lymphoma prospectively underwent both whole-body MRI-DWI and FDG-PET/CT. Whole-body MRI-DWI was successfully performed in 33 patients (mean age 13.9 years). Whole-body MRI-DWI was independently evaluated by two blinded observers. After consensus reading, an unblinded expert panel evaluated the discrepant findings between whole-body MRI-DWI and FDG-PET/CT and used bone marrow biopsy, other imaging data and clinical information to derive an FDG-PET/CT-based reference standard.

Results

Interobserver agreement of whole-body MRI-DWI was good [all nodal sites together (κ = 0.79); all extranodal sites together (κ = 0.69)]. There was very good agreement between the consensus whole-body MRI-DWI- and FDG-PET/CT-based reference standard for nodal (κ = 0.91) and extranodal (κ = 0.94) staging. The sensitivity and specificity of consensus whole-body MRI-DWI were 93 % and 98 % for nodal staging and 89 % and 100 % for extranodal staging, respectively. Following removal of MRI reader errors, the disease stage according to whole-body MRI-DWI agreed with the reference standard in 28 of 33 patients.

Conclusions

Our results indicate that whole-body MRI-DWI is feasible for staging paediatric lymphoma and could potentially serve as a good radiation-free alternative to FDG-PET/CT.

Keypoints

? Accurate staging is important for treatment planning and assessing prognosis ? Whole-body MRI-DWI could be a good radiation-free alternative to FDG-PET/CT ? Interobserver agreement of whole-body MRI-DWI is good ? Agreement between whole-body MRI and the FDG-PET/CT reference standard is good ? Most discrepancies were caused by suboptimal accuracy of size measurements on MRI