Small babies on a small island: survival of very low birthweight infants in Antigua and Barbuda 1986 to 2006 / Bebés pequeños en islas pequeñas: supervivencia de infantes con muy bajo peso al nacer en Antigua y Barbuda, de 1986 a 2006

INTRODUCTION: Recent attention has been focussed on pregnancy outcomes in developing countries, with the publication of the World Health Organization Report 2005, Make Every Mother and Child Count and the Neonatal Survival Series from the Lancet in 2005. Scant outcome data from the smaller islands of the Caribbean exist for very low birthweight (VLBW) babies (birthweight < 1500 g). PATIENTS AND METHODS: a retrospective review of mortality data on vlbw babies in antigua and barbuda was performed. antigua and barbuda had a population of 71 500 with per capita income of (us) $6054 dollars in 1998. in november 1985, a neonatal special care nursery (scn) was established. the survival to discharge from scn for vlbw babies was reviewed from january 1986 to december 2006. RESULTS: there were 26 455 babies born from 1986 to 2006; 344 (1.3%) were vlbw babies. survival to scn discharge was 45% from 1986 to 1992, 46% from 1993 to 1999, and increased to 60% from 2000 to 2006 (p < 0.05 compared with the first two time-periods). babies from 1000 to 1499 g accounted for 64% of vlbw babies and survival to scn discharge was 60% from 1986 to 1992, 58% from 1993 to 1999, and increased to 83% from 2000 to 2006 (p < 0.01 compared with the first time period; p < 0.001 compared with the second). babies < 1000g accounted for 36% of VLBW babies and survival to SCN discharge was 10% from 1986 to 1992, increased to 25% from 1993 to 1999 and to 28% from 2000 to 2006 (trend of p < 0.10 compared with first time period). conservative newborn care only was available. antenatal steroids were given from 2000 to 2006. CONCLUSION: the outlook for vlbw babies using conservative newborn care techniques has significantly improved over 21-years in antigua and barbuda.

INTRODUCCIÓN: Recientemente se ha centrado la atención en los resultados del embarazo en los países en vías de desarrollo, a partir de la publicación del Informe 2005 de la Organización Mundial de la Salud, Que cada madre y cada niño cuente y la Serie de Supervivencia Neonatal de la Lancet en 2005. Son escasos los datos de resultados existentes en las islas más pequeñas del Caribe, acerca de los bebés con muy bajo peso al nacer (MBPN) (peso al nacer < 1500 g). PACIENTES Y MÉTODOS: se llevó a cabo una revisión retrospectiva de datos sobre la mortalidad de bebés mbpn en antigua y barbuda. antigua y barbuda tenían una población de 71 500 con un ingreso per cápita de $6054 usd en 1998. en noviembre de 1985, se creó una sala de cuidados especiales del Recién Nacido (SCN). La supervivencia en término de los bebés MBPN dados de alta de la SCN fue examinada de enero de 1986 a diciembre de 2006. RESULTADOS: De 1986 a 2006, hubo 26 455 bebés nacidos; de ellos 344 (1.3%) fueron bebés MBPN. La supervivencia en término de las altas de la SCN fue de 45% de 1986 a 1992, 46% de 1993 a 1999, y aumentó a 60% de 2000 a 2006 (p <0.05 en comparación con los primeros dos períodos de tiempo). Los bebés de 1000 a 1499g representaron el 64% de los bebés MBPN y la cifra de los supervivientes dados de alta del SCN fue de 60% de 1986 a 1992, 58% de 1993 a 1999, y aumentó a 83% de 2000 a 2006 (p < 0.01 en comparación con el primer periodo de tiempo; p <0.001 en comparación con el segundo). Los bebés <1000 g representaron el 36% de los bebés MBPN, y la supervivencia en términos de los dados de alta de la SCN fue 10% de 1986 a 1992, aumentó a 25% de 1993 a 1999, y a 28% de 2000 a 2006 (la tendencia de p <0.10 en comparación con el primer periodo de tiempo). Sólo hubo disponible atención neonatal conservadora Se administraron esteroides antenatales desde el año 2000 al 2006. CONCLUSIÓN: El pronóstico para MBPN usando técnicas de cuidado neonatal conservadoras ha mejorado significativamente a lo largo de 21 años en Antigua y Barbuda.

Mutación del gen BMPR1A (Bone Morphogenetic Protein Receptor 1A) en un caso de poliposis juvenil / BMPR1A (Bone Morphogenetic Protein Receptor 1A) gene mutation in juvenile polyposis: a case report

Antecedentes: la poliposis juvenil (PJ) es una infrecuente afección hereditaria autosómica dominante caracterizada por la presencia de múltiples pólipos hamartomatosos gastrointestinales. Hasta el momento se han identificado 3 genes relacionados a esta afección: SMAD4 (cromosoma 18q21), el PTEN (cromosoma 10q23) y recientemente el BMPR1A (cromosoma 10q22-23). El diagnóstico genético permite optimizar el manejo de estos pacientes. Objetivo: presentar los resultados del diagnóstico clínico de poliposis juvenil. Método: paciente de sexo masculino de 16 años de edad con pólipos colónicos cuyas biopsias preoperatorias informaron la presencia de componentes adenomatosos, hamartosos e hiperplásicos. Luego de la resección endoscópica de 6 pólipos rectosigmoideos, se le realizó una colectomía subtotal con ileo-recto anastomosis. Antes de poder contar con el diagnóstico genético y a fin de determinar la posible afectación fenotípica se indicó videocolonoscopías (VFCC) a ambos padres y a cuatro hermanos. Luego del asesoramiento genético se obtuvo el consentimiento informado y se mandaron las muestras de sangre del paciente y sus padres a la Universidad de Iowa, USA para la determinación de mutaciones germinales en los genes SMAD 4 y BMPR1A. Resultados: todas las VFCC efectuadas fueron normales. El estudio molecular encontró una mutación germinal del gen BMPR1A (864-868 del ACTTGIVS7 + 1-2delgt) en el paciente y ausencia de la misma en ambos padres. Se concluyo que se trataba de una mutación "de novo" asociada a la poliposis juvenil y que por lo tanto ninguno de sus familiares presentaba riesgo aumentado. En base a esta información no se recomendó continuar con la vigilancia estricta de los mismos. Conclusión: la identificación de la mutación germinal permitió confirmar el diagnóstico de poliposis juvenil y estimar el riesgo de presentar dicha enfermedad en los familiares cosanguineos optimizando la estrategia de prevención en la familia.

A case of MALT lymphoma of the urinary bladder / 대한내과학회지

Primary lymphoma of the urinary bladder is a rare non-epithelial bladder tumor accounting for less than 1% of all bladder tumors. Approximately 17 cases of MALT lymphomas of bladder have been reported in the literature. Most reported MALT lymphomas of bladder have a female sexual preponderance with a mean age of 58 years with common presenting symptoms of hematuria, dysuria and urinary frequency. The reported prognosis of MALT lymphoma of the urinary bladder is excellent. We report a case of MALT lymphoma of urinary bladder in a 57-year-old woman patient who presented with a two-year history of persistent dysuria and urinary frequency. An intravenous pyelogram and cystoscopy revealed a 1 cm focal elevated lesion at the base of urinary bladder. The tissue obtained by transurethral resection (TUR) showed plasma cell infiltration consistent with low grade marginal zone B cell lymphoma. The immunohistochemical studies showed an immunoglobulin restriction to lambda light chain while the nested polymerase chain reaction analysis of the tissue showed a monoclonal Ig heavy-chain gene rearrangement. The clinical staging protocol revealed that the tumor was primarily arising from the urinary bladder with no evidence of other site involvements. The patient received radiation therapy of 3060 cGy in 17 fractions.

Clinical investigation of gastric MALT lymphoma / 대한내과학회지

BACKGROUND: Mucosa-associated lymphoid tissue (MALT) lymphoma of the stomach has recently been defined as a distinct clinicopathologic entity, often associated with Helicobacter pylori (H. pylori) infection. Characteristics and treatment outcomes of 57 patients with gastric MALT lymphoma were analyzed. METHODS: Retrospective analysis of 57 cases of gastric MALT lymphoma who underwent treatment with various modalities at Samsung Medical Center from Mar. 1995 to Jul. 2000 was performed. RESULTS: The median age of the patients was 47 years (ranged from 22 to 75 years) and the ratio of males to females was 1.1:1. The presenting symptoms were abdominal pain, indigestion and GI bleeding. By Modified Ann Arbor system, stage IE accounted for 70.2%, stage II1E 14.0%, stage II2E 14.0%, and stage IV 1.8%, respectively. H. pylori had been evaluated histologically in 49 cases of which 81.6% was positive. Low grade histology accounted for 71.9% and high grade histology 28.1%. Treatment modalities included H. pylori eradication, surgery, chemotherapy, radiotherapy and their combination therapy. In one case, the patient was observed without treatment. Complete remission rate was 98.2%. H. pylori eradication alone resulted in lymphoma regression successfully in 20 out of 23 patients. With median follow-up of 33 months (3-61 months), median survival was not reached. Overall 3 year survival rate was 94.7%. CONCLUSION: Regardless of treatment modality, high survival rate (3 year survival rate 94.7%) was obtained. H. pylori eradication was feasible and safe in the cases of low grade, stage I, and H. pylori-positive lymphoma, and allowed stomach preservation. Longer follow-up evaluation is required to determine the long-term efficacy and side effects of H. pylori eradication.

Diagnostic Utility of Polymerase Chain Reaction-Based Clonality Analysis for Immunoglobulin Heavy Chain Gene and T-cell Receptor Gamma Chain Gene Rearrangement in Lymphoid Neoplasms

BACKGROUND: The clonality of lymphoid infiltrates determined by polymerase chain reaction (PCR) for immunoglobulin heavy chain (IgH) or T cell receptor (TCR) genes is not only useful in confirming the diagnosis of malignant lymphoma but also in establishing the lineage of a clonal lymphoid proliferation. We analyzed the efficiency of PCR analyses for IgH and TCRgenes that have been routinely applied for the diagnosis of malignant lymphoma in our laboratory. METHODS: Paraffin sections of 200 cases were analyzed by seminested PCR. Primers were FRIIIA-LJH/VLJH consensus primer for IgH gene and V-J consensus primer for TCR gene. The cases showing negative results by PCR for TCR gene were further analyzed by multiplex V family primers with heteroduplex analysis. RESULTS: PCR approach for IgH gene allowed detection of clonality in 100% of cases with false positive rate of 0.3% and false negative rate of 0%. The combination of PCR for TCR consensus primers with multiplex V family primers allowed detection of clonality in 91% of cases with false positive rate of 0.6% and false negative rate of 10.3%. CONCLUSIONS:Combined analysis of IgH and TCR gene rearragnements by the PCR technique followed by heteroduplex analysis can be a useful diagnostic adjunct to determine the clonality of various lymphoproliferative diseases with high sensitivity. But clinical, morphological and immunophenotypical correlation should be considered to reach the final diagnosis due to a few false positive cases.

Primary Nodal Marginal Zone B-cell Lymphoma: Clincopathologic Analysis of Splenic and Mucosa-Associated Lymphoid Tissue Type

BACKGROUND: Primary nodal marginal zone B-cell lymphoma (MZBL) is recently divided into mucosa-associated lymphoid tissue (MALT) type and splenic type. Herein, we analyzed clinicopathologic differences of those two types of nodal MZBL. METHODS: Histologic and clinical findings of eleven cases of primary nodal MZBL lymphoma were reviewed. Immunohistochemical stains for IgD, Ki-67, CD3, and CD20 were performed. RESULTS: The cases were classified as splenic type in four, MALT type in five, and unclassified in two. The age at presentation was 36.7 years old (range: 16-73) in splenic type and 48 years old (range: 31-68) in MALT type. Two patients with splenic type and one with MALT type had a long history of lymphadenopathy up to 9 years. Whereas tumors of splenic type showed nodular infiltration of tumor cells with follicular colonization and hyperplastic germinal center, tumors of MALT type showed mainly sinusoidal or parafollicular infiltration and atrophic germinal centers. All the patients with splenic type were alive at last follow-up and one patient with MALT type died of disease at 5 months after diagnosis. CONCLUSIONS:Although the number of cases we analyzed was small, splenic type seems to be distinct from MALT type and lower grade neoplasm.

Mantle Cell Lymphoma/Leukemia in Bone Marrow: Lacking Evidence of t(11;14) / 대한임상병리학회지

BACKGROUND: Mantle cell lymphoma/leukemia (MCL) is a distinctive disease entity that has been characterized by specific histopathologic, immunologic, and cytogenetic features. The characteristic cytogenetic abnormality of MCL is t(11;14)(q13;q32), that results in cyclin D1 overexpression. We have experienced 12 MCL cases with bone marrow involvement that were lacking evidence of t(11;14). We tried to review the cases. METHODS: We reviewed the bone marrow findings, immunophenotypic, cytogenetic studies including fluorescent in situ hybridization (FISH) analysis using IGH/CCND1 probes and medical records of 12 patients that were diagnosed with MCL based on immunophenotypic results during the period 1997 to 2001. RESULTS: The patients had a median age of 63 (50-70) years with male-to-female ratio of 3:1. All patients showed hepatosplenomegaly with varying degrees of peripheral blood involvement (2-93%), and lymphocytosis was found in 7 cases. Other presenting features were palpable lymph nodes (83%) and B symptoms (25%). The malignant cells were quite heterogenous in morphology from centrocytic to blastic variants. Most cases showed typical immunophenotypes-expression of CD19, bright CD20, FMC7, CD5 and bright-light chains with negative CD23. Immunohistochemical staining with cyclin D1 on marrow biopsies showed mostly negative results. Among the eleven cases in which cytogenetic studies were possible, four cases showed complex karyotypes, and three that involved 14q32. Strikingly, no one showed t(11;14) in G-banding analysis and only 2 cases showed IGH/CCND1 rearrangement by FISH. CONCLUSTIONS: Most MCL cases with typical immunophenotypic findings did not show evidence of specific cytogenetic features. Although further workups for molecular pathogenesis and clinical follow-up of the above cases need to be done, we suggest a new disease entity, t(11;14)-negative MCL.

A case report of primary T-cell lymphoma of the liver

The patient was a 50-year-old woman who presented intermittent mild fever with elevated liver enzymes for 12 years. The liver biopsy showed diffuse portal and sinusoidal involvement of lymphoid cells with minimal atypia and epithelioid histiocytic granuloma formation. Subsequent bone marrow biopsy showed lymphomatous involvement. The lymphocytes infiltrating the liver were reactive for T-cell marker and showed TCR gamma gene rearrangement. The patient was diagnosed as primary peripheral T-cell lymphoma of the liver. Indolent clinical course and resemblance with hepatitis were considered to be a rare and unique feature of this case.

Extra-gastric MALT lymphoma: Analysis of 50 cases / 대한내과학회지

BACKGROUND: Mucosa-associated lymphoid tissue(MALT) lymphoma has an indolent natural course. However, extra-gastric MALT lymphoma has been reported to have more frequent relapses and shorter time to progress than gastric MALT lymphoma. We performed this study to analyze clinical features of extra-gastric MALT lymphoma. METHODS: We retrospectively reviewed the medical records of the patients who were diagnosed as extra-gastric MALT lymphoma at the Samsung Medical Center from March 1995 to January 1999. The survival was analyzed by Kaplan-Meier method. RESULTS: During the study period, extra-gastric MALT lymphoma was diagnosed in 50 patients. The median age was 51(28-87)yaers. The male to female ratio was 22:28. Commonly involved sites were conjunctiva (25/50, 50%), lung (6/50, 12%) and intestine(6/50, 12%). Histopathologically, low to high grade ratio of extra-gastric MALT lymphoma was 47:3. Among 41 patients who were staged, 32 patients(78%) had stage I or II and 9 patients(22%)had stage IV. B symptoms were seen in only 3 patients. Bone marrow involvement was observed in 4 patients. The duration of median follow up was 22 months. The 1-year and 2-year survival rates were 95.1% and 91.4% retrospectively. CONCLUSION: Majoity of our cases with extra-gastric MALT lymphoma had low grade, early stage, good treatement reponse and good prognosis.

Analyses of Genetic Alterations in Breast Cancers by Comparative Genomic Hybridization

Transformation and progression of breast cancer are thought to be caused by an accumulation of complex genetic alterations, but little is known about specific changes. In this study, the author has undertaken a genome-wide screening to detect genetic changes in 20 cases of breast cancer among Koreans, including 16 infiltrating ductal carcinomas, 2 medullary carcinomas, 1 invasive lobular carcinoma, and 1 borderline phyllodes tumor. Comparative genomic hybridization (CGH) was used to screen for DNA sequence gains and losses across all human chromosomes. Simultaneous immunohistochemical staining for c-erbB-2 (Her-2/neu), c-myc, cyclin D1, and p53 protein was done to make comparisons with nuclear grade and that with CGH results. Biotin-labeled tumor DNA and digoxigenin-labeled normal DNA were hybridized to normal metaphase cells. The fluorescence signals were captured by fluorescence microscope after detection by avidin-FITC and anti-digoxigenin rhodamine. Then, the ratio of fluorescence was calculated by an image analyzer. The immunohistochemical staining was done in paraffin-embedded tissue with an LSAB kit and avidin-biotin complex (ABC) method. The CGH results showed gains on chromosomes 8q (40%), 1q (30%), 17q (15%), 20q (15%), 18q (15%), 5p (15%), and 13q (15%). Deletions were on chromosomes 17p (45%) and 22q (20%). High-level amplifications (green/red ratio >1.5) were noted on chromosomes 1p31, 1q, 3q25-qter, 5p, 7q31-qter, 8q, 9p22-qter, 10p, 11p, 11q22-qter, 12p, 12q24, 14q21-qter, 15q23-qter, 17q, 18p, 18q12-qter, 20p, and 20q. By comparison with infiltrating ductal carcinoma, the two medullary carcinomas showed high-level amplification on chromosomes 1p31, 1q, 8q, 10p, 11p and 12p. c-erbB-2, c-myc, cyclin D1, and p53 protein expression was immunohistochemically detected in 9 of 20 (45%), 8 of 20 (40%), 10 of 20 (50%), and 13 of 20 (65%), respectively. The results indicate that the amplification on chromosome 8q, 1q and the deletions on chromosomes 17p and 22q are the most frequent genetic alterations in breast cancers among Koreans. The results reveal a different pattern of genetic alteration from previous studies. The CGH results were not correlated with the immunohistochemical profiles. The amplification pattern of medullary carcinomas was quite different from the pattern of infiltrating ductal carcinomas. The CGH was thought to be very useful in the screening of genetic alterations of solid tumors.

Diagnostic Usefulness and Limitation of Fine Needle Aspiration Cytology of Lymph Node: Analysis of 176 Cases Confirmed by Biopsy / 대한세포병리학회지

The accuracy of fine needle aspiration cytology(FNAC) of the lymph node was investigated through a review of 176 FNAC cases and the corresponding biopsies. We chose 157 FNAC cases after the exclusion of 19 inadequate ones. Sensitivity of malignancy was 94.0%, specificity 100%, false negativity 6.0%, and false positivity 0.0%. The overall diagnostic accuracy was 96.8%. Sensitivity of metastatic carcinoma was 98.0% and that of malignant lymphoma was 87.9%. False negative cases included one metastatic carcinoma and four malignant lymphomas. The aspirates of metastatic carcinoma with false negativity exhibited a diffuse smear of keratin debris without viable cells, which led to the difficulty in differentiation from benign epithelial cyst. The cases of malignant lymphoma with false negative diagnosis were two Hodgkin diseases, one Lennert's lymphoma, and one peripheral T cell lymphoma in the histologic sections. On the analysis of 39 cases of tuberculosis, 17 cases(43.6%) were diagnosed as tuberculosis, 4(10.3%) as granulomatous lymphadenitis, 3(7.7%) as necrotizing lymphadenitis, and 15(38.5%) as reactive hyperplasia or pyogenic inflammation. Sensitivity of tuberculosis was 53.9%. In conclusion, lymph node FNAC is an excellent non-invasive diagnostic tool for the diagnosis of metastatic carcinoma. The diagnostic accuracy of malignant lymphoma could be improved with flow cytometry or polymerase chain reaction for antigen receptor genes. For the FNAC diagnosis of tuberculosis, AFB stain, culture, and PCR would be helpful as adjuvant techniques.

Histopathologic Features and Immunophenotype of 19 Primary Cutaneous Lymphomas

The diagnosis of primary cutaneous lymphoma is based on a combination of clinical, histological, immunophenotypic and genetic criteria. Nineteen cases of primary cutaneous lymphomas were studied for clinicopathologic, immunophenotypic, and genetic features. Seventeen (89%) cases were T cell origin and two cases (11%) were B cell origin. CD30-positive cutaneous lymphoproliferative disorder was the most frequent subtype, occupying 42% (8 cases) of the cases. CD8 was positive in 5 cases consisting of 3 cutaneous T cell lymphomas and 2 anaplastic large cell lymphomas. CD4 was positive in 2 cases of mycosis fungoides and 3 cases of lymphomatoid papulosis. Six (67%) of 9 cases of cutaneous T cell lymphoma were positive for TIA-1. Ten (83%) out of 12 cases showed clonal rearrangements of TCR gamma genes, however, one T/NK cell lymphoma and one anaplastic large cell lymphoma did not. EBV association was detected only in T/NK cell lymphomas among 10 cases examined. In conclusion, our study showed higher proportion of CD30-positive lymphoproliferative disorders and less frequent mycosis fungoides in Korea compared to the incidences in Western countries. Our immunostaining results suggested that mycosis fungoides and lymphomatoid papulosis are CD4-positive T cell origin, however, the remaining primary cutaneous T cell lymphoma is predominantly CD8-positive cytotoxic T cell origin.

A Case of Langerhan's Symbol 146/f "Times New Roman" Cell Histiocytosis with Diabetes Insipidus / 대한신장학회잡지

Central diabetes insipidus (CDI) is a clinical syndrome that result from a failure of the neurohypophyseal axis to produce or release a sufficient quantity of arginine vasopressin (AVP) to permit normal function of the urinary concentrating mechanism. Polyuria and polydipsia are the symptoms associated with CDI. The most common cause of CDI is idiopathic variety and head trauma, neurohypophyseal surgery, primary or metastatic brain tumors acount for most of the remaining cases. CDI in Langerhans cell histiocytosis (LCH) is thought to be to infiltration of the hypothalamus-neurohypophyseal system. We report a patient with CDI and LCH underwent water depriviation test, MR imaging of the pituitary-hypothalamic region, and VATS associated open lung biopsy.