Solid pseudopapillary neoplasm of the pancreas in a 12-year-old female: case report and review of the literature.

Solid pseudopapillary neoplasms of the pancreas (SPNP) are rare pancreatic tumors that occur predominantly in young women, with very few cases reported in men. While the origin of the tumor may be unclear, it is characterized by a distinct histological appearance and a clinical course highlighting its low malignant potential. SPNP have an excellent prognosis and are potentially curable provided they are managed appropriately by complete surgical resection. In the rare instances where metastatic disease is encountered, surgical debulking has been shown to prolong survival. The role of chemotherapy and radiation therapy in the management of SPNP is still controversial. We report here on an unusual occurrence of SPNP in the area of the head of the pancreas in a 12-year-old female treated by pancreatico-duodenectomy, together with a review of the literature.

Efficiency of interphase fluorescence in situ hybridization for BCR/ABL on peripheral blood smears for monitoring of CML patients: a comparison with bone marrow findings.

Conventional cytogenetic analysis (CCA) is the standard method for monitoring of the Philadelphia (Ph) chromosome in chronic myeloid leukemia (CML). Evaluation of breakpoint cluster region/abelson murine leukemia (BCR/ABL) fusion using interphase fluorescence in situ hybridization on peripheral blood smears (PB-FISH) might be another approach allowing more frequent and less invasive follow-up investigations. Herein, BCR/ABL fusion gene was assessed on 21 PB smears from 16 CML patients in chronic phase. Results of PB-FISH were compared with those of CCA and interphase FISH on bone marrow aspirates (BM-FISH). PB-FISH analysis was combined with CD3 immunophenotyping that allowed simultaneous investigation of the leukemic status of CD3(+) T lymphocytes and scoring CD3(-) cells for BCR/ABL fusion gene. Moreover, the frequency of BCR/ABL fusion in nonlymphoid PB cells was estimated according to the differential leukocyte counts. The incidence of BCR/ABL(+) fusion signals in CD3(+) T cells of CML patients was 5.3% (SD +/- 1.9) and did not exceed the normal cut-off value of 8%. A significant correlation (P < 0.001) was found between results of PB-FISH and methods of BM analysis (CCA or BM-FISH). Correction of PB-FISH results to include only nonlymphoid or CD3(-) cells reduced the mean of differences and improved agreement between PB-FISH and CCA or BM-FISH methods. The best agreement was noted between CCA and PB-FISH on nonlymphoid cells. On the other hand, results of BM-FISH agreed well with those of PB-FISH on CD3(-) cells. These findings imply that PB-FISH on nonlymphoid or CD3(-) cells is reliable and may replace BM analysis for monitoring of response to treatment in CML patients.

Treatment of anemia in low-risk myelodysplastic syndromes with amifostine. In vitro testing of response.

Amifostine (AMF) promotes in vitro growth and survival of hematopoietic progenitors. In this study we evaluated the efficacy of AMF in the treatment of anemia in patients with low-risk myelodysplastic syndromes (MDS) and the possible predicting value for response to AMF therapy of two types of in vitro clonogenic assays. Two different doses of AMF, 300 mg/m2 (group A, 11 patients) or 400 mg/m2 (group B, 16 patients), were studied. AMF was given three times weekly for 3 weeks, i.v., followed by 2 weeks off therapy. Patients were evaluated after two cycles of treatment. Partially or nonresponding patients of group A received 400 mg/m2 AMF and were reevaluated. An increase of hemoglobin (Hb) values of more than 2 g/dl and a 100% decrease in transfusion requirements for at least 6 weeks were defined as a complete response (CR) while an increase of Hb values of 1-2 g/dl or a 50% decrease in transfusion requirements was considered as a partial response (PR). In group A, two out of 11 (18.1%) patients achieved a CR with the initial dose and one of the nine that received 400 mg/m2 AMF achieved a PR. In group B, three out of 16 (18.7%) patients achieved a PR; the overall response rate in both groups was 22.2%. In group A, bone marrow progenitor assay was performed pre- and post-amifostine treatment. Erythroid burst-forming units (BFU-E) were increased in six out of 11 (54.5%) patients, and this increase preceded the rise in Hb levels in three of them. In group B, a clonogenic assay was performed in 11 out of 16 patients before AMF treatment. In vitro results after pretreatment with 500 microM amifostine confirmed the response of two MDS patients that achieved a PR. No response in vitro was observed in all eight nonresponding patients and in one PR patient. The lack of response in the clonogenic assays predicted for nonresponse to treatment with a predictive power of 91.8%. We conclude that 300 mg/m2 is an adequate initial treatment for low-risk MDS patients and both clonogenic assays have a strong predicting value for response to treatment.

Multiple ipsilateral congenital diaphragmatic pathologies: rarities to consider.

BACKGROUND: Bilaterality of congenital diaphragmatic pathologies is well documented in the English literature. Nevertheless, ipsilateral simultaneous congenital diaphragmatic pathologies, though rare, are worth revisiting to shed more light into their embryology and management. METHODS: A review of the literature for reported cases of multiple ipsilateral congenital diaphragmatic pathologies was performed. Their findings, management and outcomes were classified and reviewed, in addition to reporting and comparison with a new case from our medical center. RESULTS: Two patients were adult females with multiple defects in the right central tendon of the diaphragm. The remaining four were all pediatric cases. Two had double congenital hernial defects on the same side and two had the defect associated with ipsilateral diaphragmatic eventration. Our case is the third one with diaphragmatic eventration, but the first being associated with a posterolateral defect on the same side. Its presentation with acute rectal bleeding proved difficult to diagnose. CONCLUSION: There are various postulated theories concerning the pathogenesis of ipsilateral pathologies during embryologic development of the diaphragm. Management of asymptomatic congenital eventrations remains debatable. However, when symptoms become apparent, ipsilateral defects though rare, should be considered and prompt surgical management through a thoracotomy or laparotomy approach is recommended.

Valproic acid, trichostatin and their combination with hemin preferentially enhance gamma-globin gene expression in human erythroid liquid cultures.

BACKGROUND AND OBJECTIVES: In addition to conventional therapy, current treatment of thalassemia and sickle cell anemia includes inducers of hemoglobin F synthesis (hydroxyurea, erythropoietin, azacytidine and butyrate). However, because of concerns about the dose-limiting myelotoxicity, potential carcinogenicity and high cost of the above agents, an intensive search for less toxic or more effective drugs is ongoing. In this study we tested the effect of valproic acid and trichostatin, alone or in combination with hemin, on gamma chain synthesis in human erythroid liquid cultures. DESIGN AND METHODS: The agents were tested on erythroid human liquid cultures derived from normal peripheral blood, peripheral blood from beta(s)/beta(thal) patients, normal cord blood and normal bone marrow samples. The effect of the agents was expressed as increase of gamma/gamma+beta m-RNA, measured with competitive reverse transcriptase-polymerase chain recation (RT-PCR), or as increase of HbF, measured by high performance liquid chromatography (HPLC). RESULTS: Addition of valproic acid or trichostatin to human erythroid cell cultures preferentially enhanced gamma mRNA synthesis in all blood samples (2.9 to 3.5-fold). The addition of hemin enhanced the effect up to 10-fold. INTERPRETATION AND CONCLUSIONS: Valproic acid, trichostatin and their combination with hemin (all three FDA-approved drugs) preferentially increase gamma-globin chain synthesis and may be helpful for the treatment of hemoglobinopathies.

Evaluation at single cell level of residual Philadelphia negative hemopoietic stem cells in chronic phase CML patients.

In chronic myeloid leukemia, accurate determination of Ph(-) Hemopoietic stem cells (HSC) in peripheral blood (PB), bone marrow (BM) and leukapheresis products is important for the selection of patients for whom mobilization, collection, and autografting of Ph(-) HSC are envisaged. To this effect, the BCR/ABL fusion was assessed at the single cell level in 25 sets of PB and BM samples using dual-color I-FISH in immunophenotyped CD34(+) cells and RT-PCR of individual CFU-GM colonies. In 15 cases found to be 100% Ph(+), the respective BCR/ABL gene was absent in 30% of CD34(+) cells, while the respective transcripts could not be identified in 17% of CFU-GM. The mean percentage of BCR/ABL(-) CD34(+) cells and CFU-GM cells was higher (38% and 29%, respectively) in untreated patients than in treated patients (24% and 7%, respectively). In eight cases with cytogenetic response (CgR), the percentage of Ph(-) metaphases correlated with the level of BCR/ABL(-) colonies in BM and PB and with the proportion of BCR/ABL(-) CD34(+) cells in the BM. Immunophenotyping and FISH was fast, easy, always informative, and quantitative for the BCR/ABL(-) CD34(+) cells. Our results show that (a) at early diagnosis a high frequency of BCR/ABL(-) HSC circulate in the PB and that Ph(-) hematopoiesis is not completely suppressed; (b) although normal clonogenic cells decline rapidly within a few months after diagnosis, appreciable numbers of normal CD34(+) cells survive in chronic phase, especially in patients with CgR.

Aspergillus vertebral osteomyelitis in a child with a primary monocyte killing defect: response to GM-CSF therapy.

We report the first case of vertebral aspergillosis in a child with a primary defect in monocyte killing, an extremely rare immunodeficiency The diagnosis of defective monocyte killing was made by an in vitro assay that showed normal killing of Staphylococcus aureus by the patient's neutrophils but impaired killing by his monocytes. Importantly, the extensive granulomatous infection that involved the vertebral column, posterior mediastinum, pleura, and lung was not responsive to aggressive treatment with a combination of liposomal amphotericin B. intralesional amphotericin B. itraconazole, and granulocyte transfusions. Dramatic clinical and radiological improvement was only seen after the addition of granulocyte macrophage-colony stimulating factor (GM-CSF) to his treatment regimen. The use of GM-CSF in the treatment of invasive aspergillosis in immunocompromised patients requires further evaluation.

Traumatic injuries of the alimentary tract in children.

Traumatic alimentary tract (AT) perforations in children secondary to instrumentation, though rare, can occur at any age, especially in neonates and young infants. Awareness of such a possibility is essential for prompt management to be initiated. Over a 10-year period (1986-1995), eight pediatric patients with AT perforations secondary to instrumentation were managed at the American University of Beirut Medical Center. Five had upper AT injuries that included three hypopharyngeal, one esophageal, and one gastric lesion. The remaining three patients had lower AT injuries involving the transverse colon in one and the rectum in two. All the patients but two (one with a hypopharyngeal and one with an esophageal injury) were managed surgically and all survived. These rare injuries are discussed in addition to the preventive measures to be taken.

Abdominal situs inversus with congenital duodenal stenosis: rare association.

Abdominal situs inversus carries a significant mortality because the majority of cases (95 %) have associated cardiac and splenic defects. A review of all cases reported in the English literature confirms in addition the presence of significant gastro-intestinal pathologies, mainly annular pancreas, midgut volvulus and duodenal atresia. We report on an additional case of abdominal situs inversus without cardiac or splenic abnormalities, who had partial duodenal obstruction secondary to a mucosal diaphragm. This seems to be the thirteenth case associated with duodenal obstruction and the sixth case secondary to a mucosal duodenal diaphragm, to date, in this setting.

Double zonal aganglionosis in long segment Hirschsprung's disease with a "skip area" in transverse colon.

The case of an infant with Hirschsprung's disease involving the rectum, entire colon, cecum, appendix, terminal ileum and sparing the midtransverse colon is described. The purpose of the report is to submit an additional illustration of this rarely documented aspect of intestinal aganglionosis.

Hydatidosis in childhood.

A series of 45 children treated during the period 1959-1978 at the American University of Beirut Hospital is reported. Their ages ranged from 3-15 years. The organs affected were the lungs (67% of cases), liver (40% of cases), brain (9% of cases), kidney, neck and heart (two patients each). Multiple organ affection was noted in nine patients (20%). Because of this distribution and the presence of multiple cysts in the same organ, these patients required 64 surgical procedures for their treatment. The frequency of nonreactors to CF and IHA tests done on 33 patients was 36%, of whom 2 patients had multiple organ involvement. A false preoperative diagnosis was made in 11% of cases. Endocystectomy is the procedure of choice in most cases, combined either with marsupialization of the pericyst to the body cavity, or with closure of the pericyst if the cyst is not infected. Primary pulmonary lobectomy was resorted to in 23% of patients with lung cysts. Aqueous cetrimide solution (1/1000) has been used exclusively as a scolicidal agent during the last 10 years. The transdiaphragmatic approach to cysts in the dome of the liver is recommended and was used in four patients. Selective endobronchial intubation of the contralateral safe lung was used in six patients with lung cysts to prevent aspiration pneumonia and to make the dissection technically simpler. Three deaths were recorded early in this series giving a mortality rate of 6.7%. Methods for reducing complications and mortality are described.

Repair of major defect of the upper extremity with a latissimus dorsi myocutaneous flap: a case report.

The latissimus dorsi myocutaneous flap was first used by Tansini in 1896 and in recent years has been increasingly used for a wide range of surgical reconstructions, particularly as a free flap transfer. We report a case in which an extensive defect of the left arm and shoulder was resurfaced with a latissimus dorsi myocutaneous flap prior to orthopaedic reconstruction of a large defect in the humeral shaft.