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1.
JPGN Rep ; 3(1): e157, 2022 Feb.
Article in English | MEDLINE | ID: mdl-37168743

ABSTRACT

Supplemental Digital Content is available in the text.

3.
F1000Res ; 3: 88, 2014.
Article in English | MEDLINE | ID: mdl-25254098

ABSTRACT

One well recognized and potentially serious complication of chronic immunosuppression in organ transplant recipients is post-transplantation lymphoproliferative disorders (PTLD). This accounts for 20% of all malignancies in transplant recipients, which is four times higher than the general population (1,2). The diagnosis of PTLD is often difficult, due to various manifestations resulting in late diagnosis. We report an unusual presentation of PTLD in a pediatric patient where the diagnosis was achieved only after extensive investigation.

5.
J Pediatr Gastroenterol Nutr ; 54(2): 266-70, 2012 Feb.
Article in English | MEDLINE | ID: mdl-22094902

ABSTRACT

OBJECTIVES: The aim of this study was to describe the presenting symptoms, endoscopic and histologic findings, and clinical courses of pediatric patients diagnosed with solitary rectal ulcer syndrome (SRUS). METHODS: We describe 15 cases of SRUS diagnosed at our institution during a 13-year period. Cases were identified by review of a pathology database and chart review and confirmed by review of biopsies. Data were collected by retrospective chart review. RESULTS: Presenting symptoms were consistent but nonspecific, most commonly including blood in stools, diarrhea alternating with constipation, and abdominal/perianal pain. Fourteen of 15 patients had normal hemoglobin/hematocrit, erythrocyte sedimentation rate, and albumin at diagnosis. Endoscopic findings, all limited to the distal rectum, ranged from erythema to ulceration and polypoid lesions. Histology revealed characteristic findings. Stool softeners and mesalamine suppositories improved symptoms, but relapse was common. CONCLUSIONS: SRUS in children presents with nonspecific symptoms and endoscopic findings. Clinical suspicion is required, and diagnosis requires histologic confirmation. Response to present treatments is variable.


Subject(s)
Rectal Diseases/diagnosis , Ulcer/diagnosis , Adolescent , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Child , Female , Follow-Up Studies , Humans , Inflammatory Bowel Diseases/complications , Laxatives/therapeutic use , Male , Mesalamine/therapeutic use , Proctoscopy , Rectal Diseases/complications , Rectal Diseases/drug therapy , Recurrence , Retrospective Studies , Suppositories/therapeutic use , Syndrome , Treatment Outcome , Ulcer/complications
6.
Inflamm Bowel Dis ; 17(11): 2318-25, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21287667

ABSTRACT

BACKGROUND: Growth impairment in Crohn's disease (CD) is more common in males than females for unknown reasons. Since insulin-like growth factor-1 (IGF-1) is important for statural growth, we hypothesized that IGF-1 levels are lower in males with CD. METHODS: Sex differences in hormone Z-scores based on chronological age (CA-Z) and bone age (BA-Z) were examined in a cross-sectional study of 82 CD patients <21 years of age (43% female). RESULTS: IGF-1 CA-Z and BA-Z-scores were 0.50 units (P = 0.04) and 1.24 units (P = 0.003) lower in males. Mean bone age (12.2 years) was lower than chronological age (13.1 years) (P < 0.0001). Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and albumin did not differ by sex (P ≥ 0.08), but were associated with IGF-1 CA-Z and BA-Z-scores (P ≤ 0.02). Insulin-like growth factor binding protein-3 (IGFBP-3) CA-Z and BA-Z-scores were 0.71 units (P = 0.004) and 1.26 units (P < 0.001) lower in males. Inflammatory markers were correlated with sex hormone CA-Z and BA-Z and pituitary hormone BA-Z-scores in males (P ≤ 0.03), but not females (P ≥ 0.25). IGF-1 BA-Z-scores were positively associated with height BA-Z-scores (P = 0.03). Mean height BA-Z-scores were lower in males (P = 0.03). CONCLUSIONS: Lower IGF-1 levels in males may explain sex differences in growth impairment in CD. Inflammation appears to more adversely affect hormone levels and statural growth in males. Prospective longitudinal studies are needed to further clarify the role of IGF-1 in sex differences in statural growth impairment in pediatric CD.


Subject(s)
Crohn Disease/complications , Crohn Disease/physiopathology , Growth Disorders/etiology , Insulin-Like Growth Factor I/metabolism , Sex Characteristics , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Infant, Newborn , Insulin-Like Growth Factor Binding Protein 3/blood , Male , Prognosis , Young Adult
7.
J Pediatr ; 141(5): 695-700, 2002 Nov.
Article in English | MEDLINE | ID: mdl-12410200

ABSTRACT

OBJECTIVE: To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment. STUDY DESIGN: Nine North American patients with CDG type I and different ethnic origins were studied. RESULTS: All patients had transferrin isoelectric focusing studies with a type 1 sialotransferrin pattern. Molecular analysis showed the previously described R141H, V231M, and T237M PMM2 mutations in four patients as well as 3 rare mutations (DeltaC389, L104V, and IVS1 -1 G-->A) in the PMM2 gene in two Asian patients. CONCLUSIONS: The clinical features of these patients with diverse ethnic backgrounds confirm the variable course of CDG type I. Screening for CDG should be considered in children with relatively mild neurologic impairment, especially if they have suggestive findings such as cerebellar hypoplasia and abnormal fat distribution.


Subject(s)
Congenital Disorders of Glycosylation/diagnosis , Transferrin/analysis , Congenital Disorders of Glycosylation/ethnology , DNA Mutational Analysis , Female , Glycosylation , Humans , Infant , Isoelectric Focusing , Male
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