ABSTRACT
Urofacial syndrome was described by Elejade in 1979, who coined the term "Ochoa's Syndrome". It includes abnormal micturition, upper urinary tract dilatation, constipation and facial peculiar expression while smiling. In 1995, 3 boys with 2, 7 and 9 years old, come to the La Plata Children's Hospital, affected for this syndrome, with young, normal and no consanguinity parents. Clean intermittent catheterization was indicated in all cases, with oxibutinin in one of them, with enuresis in all the cases and normal serum creatinine for three years, when discontinued the follow-up. This cases been demonstrated the genetic condition of this syndrome, because there were 3 brothers in different steps of this condition, with the same age of initiation and progression We describe the three first cases in Argentine
Subject(s)
Constipation/complications , Facies , Urinary Bladder, Neurogenic/complications , Urinary Tract/abnormalities , Argentina , Child , Child, Preschool , Dilatation, Pathologic/complications , Humans , Male , SyndromeABSTRACT
El síndrome urofacial, descripto en 1979 por Elejade, quien lo denominó síndrome de Ochoa, se caracteriza por la presencia de disfunción miccional, infección urinaria recurrente, constipación, dilatación de la vejiga y tracto urinario alto sin obstrucción orgánica ni enfermedad neurológica evidente. Se acompaña de facies típica con inversión de la expresión facial. En 1995 ingresan en el Hospital de Niños de La Plata tres hermanos de 2, 7 y 9 años afectados por este síndrome, con diferentes etapas evolutivas de su cuadro urológico. Hijos de padres jóvenes (25 años el padre y 15 años la madre en el momento del nacimiento del primer niño), sanos, no consanguíneos. Se instauró cateterismo intermitente limpio (CIL) en todos los casos, agregando oxibutinina en uno de ellos, con mejoría del patrón miccional y persistencia de enuresis en los tres casos, con valores de creatinina sérica estables durante un lapso de tres años al cabo de los cuales abandonaron el seguimiento. Los casos presentados parecieran demostrar la predisposición congénita de esta enfermedad, ya que se trata de tres hermanos en diferentes etapas de su afección con similar edad de comienzo y progresión de la misma (AU)
Urofacial syndrome was described by Elejade in 1979, who coined the term Ochoas Syndrome. It includes abnormal micturition, upper urinary tract dilatation, constipation and facial peculiar expression while smiling. In 1995, 3 boys with 2, 7 and 9 years old, come to the La Plata Childrens Hospital, affected for this syndrome, with young, normal and no consanguinity parents. Clean intermittent catheterization was indicated in all cases, with oxibutinin in one of them, with enuresis in all the cases and normal serum creatinine for three years, when discontinued the follow-up. This cases been demonstrated the genetic condition of this syndrome, because there were 3 brothers in different steps of this condition, with the same age of initiation and progression We describe the three first cases in Argentine (AU)
Subject(s)
Male , Infant , Child, Preschool , Child , Humans , Constipation/complications , Enuresis/complications , Urinary Tract Infections/complications , Facies , Urinary Bladder Diseases/complicationsABSTRACT
El tratamiento recomendado para las patologías quísticas multiloculares del riñón es la nefroctomía,la que se realiza habitualmente a cielo abierto.Presentamos un caso resuelto con videolaparoscopía retroperitoneal.Niña de 11 años,que consulta con cuadro de dolor lumbar de un mes de evolución.Se le solicita RMN buscando patología vertebral y se detectó una lesión quística intrarrenal derecha de 3.6 por 4.5 cm.Se decidió realizar cirugía laparoscópica retroperitoneal,La anatomía patológica confirmó diagnóstico de nefroma quístico.La paciente fue dada de alta a las 48 hs y fue controlada sin complicaciones a los 18 meses de la cirugía.La cirugía laparoscópica surge como una alternativa válida es este pequeño grupo de pacientes con enfermedad quística multilocular renal
Subject(s)
Female , Cysts , Laparoscopy , Nephrectomy , PediatricsABSTRACT
El tratamiento recomendado para las patologías quísticas multiloculares del riñón es la nefroctomía,la que se realiza habitualmente a cielo abierto.Presentamos un caso resuelto con videolaparoscopía retroperitoneal.Niña de 11 años,que consulta con cuadro de dolor lumbar de un mes de evolución.Se le solicita RMN buscando patología vertebral y se detectó una lesión quística intrarrenal derecha de 3.6 por 4.5 cm.Se decidió realizar cirugía laparoscópica retroperitoneal,La anatomía patológica confirmó diagnóstico de nefroma quístico.La paciente fue dada de alta a las 48 hs y fue controlada sin complicaciones a los 18 meses de la cirugía.La cirugía laparoscópica surge como una alternativa válida es este pequeño grupo de pacientes con enfermedad quística multilocular renal
Subject(s)
Female , Nephrectomy , Cysts , Laparoscopy , PediatricsABSTRACT
BACKGROUND: The incidence of acute myeloid leukemia is 3 cases per 100,000 inhabitants/year and its five years event free survival is 15 to 20%. Since the incorporation of trans retinoic acid, event free survival of M3 acute myeloid leukemia is 80%. AIM: To report the results of acute myeloid leukemia treatment at the Hospital del Salvador, between 1990 and 1998. PATIENTS AND METHODS: The medical records of 117 patients (66 female, mean age 48.2 years), treated between 1990 and 1998 using PANDA protocol, were retrospectively reviewed. Immunophenotyping was done in 69 patients and cytogenetic studies were done in 65. RESULTS: Sixteen percent of patients had M3 acute myeloid leukemia. The most frequent phenotype was the association of DR, CD34 plus a panmyeloid marker. DR and CD34 were negative in seven of nine patients with M3 acute myeloid leukemia. Cariotype was abnormal in 78% of patients. Complete remission was achieved in 65% of cases with a 13% of failures. Early mortality was 21.3% and decreased to 6.1% in the last three years. Infections and coagulation disorders were the main causes of death. Mean survival was 10.5 months. Five years event free survival was 11%. In M3 acute myeloid leukemia, the figure is 50%. CONCLUSIONS: Treatment results are less effective than protocols that consider more aggressive chemotherapeutic protocols or bone marrow transplantation. The reduction in early mortality is due to a better management of febrile neutropenia.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Leukemia, Promyelocytic, Acute/drug therapy , Adolescent , Adult , Aged , Chemotherapy, Adjuvant , Cytarabine/administration & dosage , Daunorubicin/administration & dosage , Disease-Free Survival , Female , Humans , Idarubicin/therapeutic use , Immunophenotyping , Leukemia, Promyelocytic, Acute/genetics , Leukemia, Promyelocytic, Acute/mortality , Male , Middle Aged , Mitoxantrone/therapeutic use , Prognosis , Retrospective Studies , Treatment OutcomeABSTRACT
Se estudió la presencia de IgE específica para proteínas del látex en el suero de 27 pacientes con mielomeningocele. La IgE se determinó por RAST y ELISA y su reactividad se analizó por inmunoblottig frente a un extracto proteico de látex natural amoniacado. Se detectaron 8 sueros con IgE específica para látex por todos los métodos ensayados. Todos ellos mostraron IgE elevada y revelaron una proteína de 14 kD. Estos resultados indican una incidencia del 29 por ciento de hipersensibilidad en este grupo, la que es comparable con la informada internacionalmente
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Hypersensitivity , Latex , Meningomyelocele/complications , Cross-Sectional StudiesABSTRACT
Se estudió la presencia de IgE específica para proteínas del látex en el suero de 27 pacientes con mielomeningocele. La IgE se determinó por RAST y ELISA y su reactividad se analizó por inmunoblottig frente a un extracto proteico de látex natural amoniacado. Se detectaron 8 sueros con IgE específica para látex por todos los métodos ensayados. Todos ellos mostraron IgE elevada y revelaron una proteína de 14 kD. Estos resultados indican una incidencia del 29 por ciento de hipersensibilidad en este grupo, la que es comparable con la informada internacionalmente
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Meningomyelocele/complications , Hypersensitivity , Latex , Cross-Sectional StudiesABSTRACT
Geographical hematology of Bernard and Ruffie, or Hemato-sero-anthropology, intends to establish relationships between hereditary genetic characters of the blood and human races. Blood groups, haptoglobins, abnormal hemoglobin and other biological traits such as color vision are related to the origin of human races, their geographical distribution, history, settlements, drifts, invasions, customs, religious beliefs, cult to ancestors, dead modifications, culture, language, writing, sculpture, painting and pottery. Our investigations are aimed to locale Chilean natives and natives from Easter Island in the context of human races.
Subject(s)
Blood Group Antigens , Indians, South American/genetics , Blood , Chile , Humans , PolynesiaABSTRACT
The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non saturated, oxidated, polymerized lipids is observed; ceroids of lipofuscin, glycophospholipids and sphingomyelin, like bulky granules 1 to 3 u in diameter, turn blue with May Grunwald staining, orange reddish with PAS and black with Sudan III and osmic acid. The sea-blue histiocytes are preferably located at the bone marrow, liver and spleen and less frequently in lymph nodes, lungs and some other organs. The prognosis is variable: fatal in the central nervous system location, relatively mild in cases of spleen and bone marrow location. The possibility of complicating hepatic cirrhosis and/or pulmonary fibrosis is always present. Seven cases are described in this paper, 4 of them family related. Acute myelomonocytic leukemia in one case and histioimmunoblastic lymphoma in another were complications not yet reported in the literature.
Subject(s)
Bone Marrow/pathology , Sea-Blue Histiocyte Syndrome/pathology , Adolescent , Adult , Child , Diagnosis, Differential , Family Health , Female , Histiocytes/pathology , Humans , Liver Cirrhosis/complications , Male , Microscopy, Electron , Middle Aged , Pulmonary Fibrosis/complications , Sea-Blue Histiocyte Syndrome/complications , Sea-Blue Histiocyte Syndrome/diagnosis , Staining and LabelingABSTRACT
Subacute necrotizing lymphadenitis preferently or exclusively located in the cervical area is often unilateral, self-limited and of probable viral origin. Women under 30 years of age are affected in 80% of cases. Cure is produced in 2 to 3 months although sometimes a much longer course may be observed. Recurrence in the same or other areas may also occur. The histological pattern is characteristic with foci of necrosis with dust-like nuclear rests, absence of neutrophils, scarcity of plasma cells and a notorious proliferation of T4, lymphoimmune histiocytes that partially or completely erase the lymphoid structure. The aspect of a non Hodgkin large cell lymphoma may be stimulated.
Subject(s)
Lymphadenitis/pathology , Acute Disease , Adult , Diagnosis, Differential , Female , Humans , Lymphadenitis/diagnosis , Lymphoma, Non-Hodgkin/diagnosis , Necrosis , SyndromeABSTRACT
Congenital malformations of the spleen are rare. We report a patient with an ectopic spleen located in the left iliac fossa, which was excised in order to prevent severe complications such as torsion of the pedicle, rupture or infection. A second patient with idiopathic thrombocytopenic purpura presented with an accessory spleen located retroperitoneally. Removal of this spleen following removal of the normotopic one resulted in cure of purpura. The clinical, radiological and radioisotopic studies used to locate and identify these malformations are described.
Subject(s)
Purpura, Thrombocytopenic/diagnostic imaging , Spleen/abnormalities , Splenic Diseases/diagnostic imaging , Adult , Chromium Radioisotopes , Female , Humans , Indium Radioisotopes , Purpura, Thrombocytopenic/complications , Purpura, Thrombocytopenic/surgery , Radionuclide Imaging , Recurrence , Splenic Diseases/complications , Splenic Diseases/surgery , TechnetiumABSTRACT
Three further cases of perineal ectopic testis are reported and the published literature reviewed. Etiopathogenicity is discussed and emphasis placed on the need for perineal exploration in all cases of absence of testes from the scrotum. The most effective route of approach for repair is an inguinal one allowing replacement of the testis into the corresponding hemiscrotum without difficulty. Because of the histopathologic features involved, prognosis is better than that of cryptorchidism.
