Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation: A Case Report

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation (BMT). The BMT preparative regimen consisted of total body irradation (TBI) followed by cyclophosphamide. Cyclosporin A and short term methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive leukemia free off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT which is the only curative trentment option.

Prevalence of antibodies to Bartonella henselae and Bartonella quintana in Korean Patients with Lymphadenopathy / 감염

BACKGROUND: Cat scratch disease (CSD) manifests as a self-limiting, regional lymphadenopathy, fever and constitutional symptoms following a cat scratch or close contact with cats. Bartonella henselae is a causative agent of CSD that is globally distributed. In Korea there are no case report of CSD and no reports on the seroprevalence of Bartonella henselae in patients with suspected CSD. In this study the prevalence of antibodies to Bartonella in patients with lymphadenopathies was evaluated. METHODS: We evaluated serological responses of 31 patients (8 male, 23 female) with regional lymphadenopathies. The age of the patients ranged from 6 to 76 years old (mean+/-S.D., 30.6+/-14.3 years). Final diagnoses on the lymphadenopathies were tuberculous lymphadenopathy, Kikuchi's disease, Kawasaki's disease, and viral infection, but considerable cases remained undiagnosed. All sera were examined using MRL Diagnostics Bartonella IgG indirect immunofluorescent antibody (IFA) test kits (MRL Diagnostics, Cypress, California, USA) according to the manufac-turer's instructions. RESULTS: Of the 31 patients, 21 (67.7%) patients showed positive titers of immunoglobulin G (IgG) to B. henselae (1 : 64 or higher). Twelve (38.7%) had IgG titers of 1 : 128 and four (12.9%) had titers of 1 : 256. Among these patients, three patients had a history of close contact with a cat or cat scratch. Twenty patients (64.5%) showed positive reactions against B. quintana. CONCLUSION: This study revealed possible patients with cat scratch disease, but, unlike other countries, Bartonella seropositivity was not closely associated with cat contact. The further studies should be performed in a large number of patients including a control group and be accompanied with culture or polymerase chain reaction of extirpated lymph node.

The frequency of thiamine deficiency in chronic alcoholics and in patients at a long-term care facility / 대한내과학회지

BACKGROUND: As socioeconomic status has improved, malnutrition has become rare in Korea and generally it is no longer considered as a serious problem in medical practice. However, contrary to the above general belief we managed four patients with beriberi in 1999 and it became apparent that malnutrition might remain a problem in certain groups of patients. In this study, we assessed the nutritional state, especially with respect to thiamine deficiency, in chronic alcoholics and in patients residing at a long-term care facility (LTCF). METHODS: Fourteen chronic alcoholic patients and twenty patients being hospitalized in a long-term care facility were assigned as the study groups. The subjects' mean ages and standard deviations were 48.9+/-10.2 and 50.6+/-6.7, respectively. Medical records were reviewed to determine other aspects of their nutritional status and their dietary patterns. Ten peoples who visited the health promotion center at Inha University Hospital, for routine check-ups were allocated to the control group. Blood total thiamine levels were measured by high-performance liquid chromatography. RESULTS: Body mass indices were significantly lower in chronic alcoholics and in patients at the LTCF than in the control group (p=0.0065). Serum albumin levels were within the reference range in all three groups, but were significantly lower in patients at the LTCF than in the control group (p=0.0013). Moreover, no difference was detected between the alcoholic group and the control group in terms of thiamine levels. However, the mean thiamine level in patients at the LTCF was statistically lower than that of the control group and four (20%) patients in the LTCF group showed subnormal blood thiamine levels. The thiamine level tended to decrease with age in both alcoholics and patients at the LTCF. No correlation was found between thiamine level and the other variables examined, namely, hospital stay, body mass index, and serum albumin level. CONCLUSION: A considerable portion of patients in a long term care facility showed thiamine deficiency, however, no evidence of thiamine deficiency was found among alcoholics. This result suggests that thiamine deficiency in patients at long-term care facility may be more prevalent and that thiamine supplementation may be warranted, especially for those with other thiamine deficiency risk factors.

The Prevalence of Bartonella henselae Infection in Korean Feral Cats / 감염

BACKGROUND: Cat scratch disease (CSD) is an emerging disease worldwide and is mainly caused by Bartonella henselae, a gram-negative bacterium. The most common clinical manifestation is regional lymphadenopathy, though clinical recognition may be difficult, as atypical manifestations occur. The condition can be complicated by neuroretinitis, endocarditis, and sometimes fatal encephalopathy. The reservoir of B. henselae is the cat, and the prevalence rates of B. henselae infection in cat populations range from 4 to 70%. The prevalence of Bartonella infection in Korea has not been studied, thus, in this study Bartonella infection was investigated in cats captured in the Inchon and Ansan areas. METHODS: Twenty wild cats were captured and their livers and spleens were examined by polymerase chain reaction (PCR), bacterial culture, and histopathologically. PCR used two primers: Cat (sense:5'-GAT TCA ATT GGT TTG AA(G/A) GAG GCT-3', antisense:5'-TCA CAT CAC CAG G(A/G)C GTA TTC- 3') and Barto (sense:5'-(C/T) CT TCG TTT CTC TTT CTT CA-3', antisense:5'-AAC CAA CTG AGC TAC AAG CC-3'). Culture was performed by inoculating sliced spleen and liver into the ECV304 cell line and bacterial growth was observed over a period of 3 weeks. If no visible bacterial growth was identified, the presence of bartonella was examined by DNA staining, indirect immunofluorescent staining, and PCR. Liver and spleen were stained with H&E and scrutinized under the light microscope. RESULTS: Nine pairs of culture cells inoculated with liver and spleen were examined by indirect immunofluorescent staining and PCR; no positive case was found. In addition, no positive case was identified by PCR in the liver and spleen specimens of eleven cats. Spleen and liver specimens of eleven cats were examined by light microscopy and none showed granuloma. CONCLUSION: This preliminary study suggests that the Bartonella infection is probably uncommon in the cat population of the Inchon and Ansan areas. Further studies should be undertaken to detail the prevalence of Bartonella infection in other areas and in human.