Acute lymphoblastic leukemia in a patient with constitutional chromosome 1pter-p36.31 duplication and 1q43-qter deletion.

Chromosome 1 is the largest of all human chromosomes, containing 3141 genes. It is linked to 890 known genetic diseases including congenital hypothyroidism, hemochromatosis, and prostate cancer. Recognized deletion and duplication syndromes have been described. Deletions in the short arm (p) of the chromosome have been identified in tumors of the brain and kidneys. Duplications in the long (q) arm of the chromosome are reported in myelodysplastic syndromes. Solitary 1p36 deletion or 1q42 duplication are rarely reported entities and their associations with malignancy have not been characterized. We report a case of a child with constitutional 1pter-p36.31 duplication and 1q43-qter deletion who developed acute lymphoblastic leukemia (ALL). The patient's oncologic presentation and subsequent clinical course raise the question of the association of the underlying genetic abnormality and its malignant potential, specifically in relation to ALL. Acquired chromosome 1 deletions and duplications have been well described in other malignant diseases. Constitutional chromosome 1p duplication and 1q deletions have not been described with ALL.

Use of gastrostomy tubes in children and adolescents with eating disorders and related illnesses.

PURPOSE: The aim of this case series was to describe five youths with psychiatric illnesses who underwent feeding tube placement as part of their treatment. METHODS: The database of a Canadian academic tertiary care eating disorder program was used to identify patients with feeding tubes. RESULTS: Five patients with feeding tubes were identified in the database of more than 600 patients. Of the five patients, two had anorexia nervosa and three suffered from food refusal as a result of a psychiatric illness unrelated to body image issues. For each patient, the tube was placed only after standard methods of treatment had failed, including repeated hospitalizations and in two cases, residential treatment. The primary goal of placing the tube was to allow for outpatient management of the patient. In all five cases, the healthy weight was restored, and four of the five patients experienced a significant improvement in independent eating behavior. Four of the five patients were found to have had their tube removed when this article was being written. None of the patients required further hospitalizations and no serious relapses were found to have occurred. CONCLUSION: This case series demonstrates that gastrostomy tube feeding can be an effective intervention to allow patients with eating disorders to be treated as outpatients. The limitations of this study include the small study size, the retrospective nature of the study, and the short follow-up after tube removal. Further study is needed to evaluate the psychological effects of enterostomy feeds in patients and their families.