Volvulus of the sigmoid colon in a child

Sigmoid volvulus although a common cause of large bowel obstruction in the elderly, is considered rare in the pediatric age group. We report a case of sigmoid volvulus in a 10-year-old child with mental retardation and myopathy. The various predisposing factors for sigmoid volvulus in children are discussed, and the literature on the subject is also reviewed.     

Clinical and morphological features including expression of betaig-h3 and keratan sulphate proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea

AIM: To carry out a detailed morphological study of the cornea of a 16 year old female with a Maroteaux-Lamy syndrome (MLS). METHODS: Following a penetrating keratoplasty in July 1999, ultrastructural changes in the cornea were examined using electron microscopy. Proteoglycans were visualised using cuprolinic blue dye; and betaig-h3 and keratan sulphate were detected by immunoelectron microscopy. RESULTS: The epithelial cells were degenerate and contained apoptotic nuclei. Proteoglycans were present in epithelial cells, intercellular spaces, and in swollen desmosomes. An abnormally large quantity of proteoglycans was present throughout the stroma. Keratocytes throughout the stroma had no cell organelles, were vacuolated, and contained a large quantity of abnormal proteoglycans. Labelling for betaig-h3 was intense around electron lucent spaces in stroma. No labelling was seen in keratocytes or endothelial cells. In normal cornea, keratan sulphate labelling was regular throughout the stroma. In MLS VI type B cornea, keratan sulphate labelling was weak in the anterior stroma but very intense in the posterior stroma and in keratocyte lysosomes and vacuoles. CONCLUSION: A deficiency of aryl sulfatase B results in the deposition of keratan sulphate proteoglycan and other proteoglycans in lysosomes, causing the death of keratocytes and an abnormal build-up of proteoglycans in the stroma. This might be responsible for the lateral aggregation of collagen fibrils and impaired fibrillogenesis in MLS VI. Degenerate swollen keratocytes, together with gross changes in epithelial, stromal, and endothelial cells, would be expected to increase light scattering significantly in these corneas.     

Long-term survivors of pediatric heart transplantation: A multicenter report of sixty-eight children who have survived longer than five years

Objective: Short-term survival after pediatric heart transplantation is now excellent, but ultimately the efficacy of this procedure will depend on duration and quality of survival. We sought to evaluate the clinical course of long-term survivors of heart transplantation in childhood.Methods: Patients who had undergone heart transplantation at the university hospitals of Stanford, Columbia, and Pittsburgh between 1975 and 1989 and survived longer than 5 years from transplantation were identified and their clinical courses retrospectively reviewed.Results: Sixty eight children have survived more than 5 years from transplantation, and 60 (88%) are currently alive with a median follow-up of 6.8 years (5 to 17.9 years). Thirteen have survived more than 10 years from transplantation. Renal dysfunction caused by immunosuppressive agents was common, and two patients required late renal transplantation. Lymphoproliferative disease or other neoplasm occurred in 12 patients, but none resulted in death. Coronary artery disease was diagnosed in 13 patients (19%), leading to retransplantation in eight. Death after 5 years was related to acute or chronic rejection in 5 of 8 cases. Two of the deaths were directly related to noncompliance with immunosuppressive medication (Table). All survivors are in New York Heart Association class 1.Conclusions: Long-term survival with good quality of life can be achieved after heart transplantation in childhood, though complications of immunosuppression remain common. Posttransplantation coronary artery disease is emerging as the main factor limiting long term graft and patient survival. (J Pediatr 1997; 130:862-71)     

A literature review of adolescence and cancer

Cancer is a relatively rare phenomenon in adolescents and a traumatic experience which arouses feelings of anger, anxiety, fear and sadness. For the adolescent with cancer, there are missed opportunities, not only in daily life but also through lost social events such as dances or football games with friends. Adolescent cancer patients may understand the implications of the diagnosis of cancer but lack the personal resources or life event experience which could equip them to cope and make sense of the many potential problems which may accompany cancer. This paper reviews and explores the literature associated with the adolescent with cancer.     

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

PURPOSE: Two mutations (R555Q and R124L) in the BIGH3 gene have been described in anterior or Bowman's layer dystrophies (CDB). The clinical, molecular, and ultrastructural findings of five families with CDB was reviewed to determine whether there is a consistent genotype:phenotype correlation. METHODS: Keratoplasty tissue from each patient was examined by light and electron microscopy (LM and EM). DNA was obtained, and exons 4 and 12 of BIGH3 were analyzed by polymerase chain reaction and single-stranded conformation polymorphism/heteroduplex analysis. Abnormally migrating products were analyzed by direct sequencing. RESULTS: In two families with type I CDB (CDBI), the R124L mutation was defined. There were light and ultrastructural features of superficial granular dystrophy and atypical banding of the "rod-shaped bodies" ultrastructurally. Patients from three families with "honeycomb" dystrophy were found to carry the R555Q mutation and had characteristic features of Bowman's dystrophy type II (CDBII). CONCLUSIONS: There is a strong genotype:phenotype correlation among CBDI (R124L) and CDBII (R555Q). LM and EM findings suggest that epithelial abnormalities may underlie the pathology of both conditions. The findings clarify the confusion over classification of the Bowman's layer dystrophies.     

Retrograde concealed conduction in the atrioventricular node: differential manifestations related to level of intranodal penetration

Although concealed conduction in the atrioventricular node (AVN) has been the focus of numerous experimental and clinical studies, little is known about the differential effects on AVN functional behavior of prior concealed retrograde impulse penetration alone vs prior anterograde or dual AVN activation. This study was undertaken specifically to investigate this aspect of human AVN physiology in patients without intact ventriculoatrial conduction to provide a model with which to analyze concealed retrograde AVN conduction. In 13 such patients AVN behavior during a subsequent anterograde input was characterized for each of three different manners of prior AVN activation: anterograde alone (method I), simultaneous anterograde and retrograde excitation (method II), or equivalently timed retrograde concealed AVN penetration alone (method III). In all patients evidence for retrograde AVN concealment was documented by longer anterograde conduction in the AVN during method III than that observed when the retrograde impulse was omitted (method IV). Furthermore, in these patients lacking intact ventriculoatrial conduction, anterograde conduction in the AVN was facilitated and refractoriness was decreased during dual excitation vs anterograde activation alone (method II vs method I). However, when each of methods I and II were compared with concealed retrograde AVN penetration alone (method III), two patterns of AVN responses were observed: In 11 of 13 patients (group A) conduction in the AVN was "worse" and refractoriness was greater both in methods I and II compared with method III; in the remaining two patients (group B) the opposite relationships were observed. The results suggest that among patients with no ventriculoatrial AVN conduction there exist at least two subpopulations whose AVN functional characteristics differ markedly when the effects of anterograde and dual excitation are compared with equivalently timed concealed retrograde activation alone. These findings may be related to differences in level of retrograde AVN concealment in groups A and B, which can be unmasked by the outlined pacing techniques.     

Fine-needle aspiration biopsy of pediatric neoplasms: correlation between electron microscopy and immunocytochemistry in diagnosis and classification.

A series of fine-needle aspiration biopsies performed in 635 children were reviewed. The diagnoses rendered in these patients included malignant lymphoma in 139 (21.9%); Hodgkin's disease, 25 (3.9%); neuroblastoma, 58 (9.1%); Wilms' Tumor, 37 (5.8%); Ewing's sarcoma, 32 (5.0%); rhabdomyosarcoma, 25 (3.9%); retinoblastoma, 22 (3.5%); leukemia infiltrate, 33 (5.2%); and miscellaneous tumors, 52 (8.2%). In 171 patients (26.9%), the biopsy was nondiagnostic. The cytomorphological characteristics of these lesions are briefly described and illustrated. Salient morphological features are further correlated with histological and ultrastructural appearances. Immunocytochemical patterns of these tumors are also discussed briefly.     

Fine-needle aspiration biopsy of clear-cell sarcoma of the kidney: light and electron microscopic features

Smears from seven fine-needle aspiration biopsies from three patients with clear-cell sarcoma of the kidney were reviewed, and the findings were correlated with corresponding histopathologic appearances. In two cases, the tumor cells were polygonal to spindle-shaped and were loosely arranged in a matrix of mucoid material. The histopathologic examination of the resected tumors in these cases revealed a classic pattern. In the third case, the aspiration smears revealed round to polygonal cells with moderate to abundant cytoplasm but without the mucoid matrix. The predominant histologic appearance of this tumor was an epithelioid trabecular pattern. Electron microscopic findings were similar to those described in published studies.