[Joint surface resection with a minimally invasive dorsal approach for arthrodesis of the distal interphalangeal joint]. / Resección de la superficie articular por abordaje dorsal mínimamente invasivo para artrodesis de la articulación interfalángica distal.

Degenerative joint disease of the distal interphalangeal joint of the fingers precedes its occurrence in all the remaining regions of the body and produces major disability. We describe a distal interphalangeal arthrodesis technique performed with minimally invasive surgery. Case etiology was varied and mean follow-up was 10 months. All cases healed and functional recovery started at postoperative week two. This is a reproducible technique that produces satisfactory results in the short and medium term.

La enfermedad articular degenerativa de la articulación interfalángica distal de los dedos de la mano precede en aparición a todas las demás regiones del cuerpo y genera discapacidad importante. Presentamos el desarrollo de una técnica de artrodesis interfalángica distal asociado con cirugía mínima invasiva. La etiología de los casos fue diversa y nuestro seguimiento promedio fue de 10 meses, todos los casos consolidaron y la recuperación funcional inició desde las dos semanas del postoperatorio. Consideramos que esta técnica puede ser reproducible con resultados satisfactorios en el corto y mediano plazo.

Un nuevo caso familiar del síndromede Jackson-Sertoli. Revisión de los aspectos clínicos y genéticos / A new familial case of Jackson-Sertoli syndrome. A review of the clinical

La paquioniquia congénita es una alteración infrecuente de la queratina, cuyo principal signo clínico es la onicodistrofia. Puede ser clasificada en dos principales subtipos clínicos: paquioniquia congénita tipo 1 y 2. La tipo 2 esta asociada con la mutación en los genes de queratina: K6b y K17.El esteatocistoma múltiple es una alteración infrecuente de la queratina de la unión pilosebásea caracterizado por el desarrollo de múltiples quistes dérmicos que contienen sebo. La mutación en K17 también se ha demostrado en pacientes con esta entidad. Reportamos una familia con variable y oligosintomática forma de paquioniquia congénita y esteatocistoma múltiple. La asociación de ambas entidades de acuerdo a la clasificación de Schonfeld corresponde un nuevo caso familiar del síndrome de Jackson-Sertoli (AU)

Pachyonychia congenita (PC) is a rare keratin disorder which the main clinical sign is onychodystrophy. PC can be classified into two main clinical subtypes: pachyonychia congenita type 1 and 2. The type 2 is associated with mutations in keratin gene: K6b y K17. Steatocystoma multiplex is an uncommon keratin disorder of the pilosebaceous unit characterized by the development of numerous sebum-containing dermal cysts. Mutationsin K17 have been too demonstrated in patients with this entity. We report a family with variable and oligosymptomatic form of pachyonychia congenita and steatocystoma multiplex. The association of both entities according to the Schonfeld classification correspond a new familial case of Jackson-Sertoli syndrome (AU)

[Hereditary multiple exostosis. Case report and differential diagnosis of enchondromatosis]. / Exostosis múltiple hereditaria. Reporte de un caso y diagnóstico diferencial de las encondromatosis.

The enchondromatosis include a heterogeneous group of congenital disorders characterized by the presence of multiple enchondromas associated with musculoskeletal malformations and the main complication is the risk of malignant transformation to chondrosarcoma. The hereditary multiple exostosis is an entity with autonomus dominant inheritance pattern, characterized by having multiple exostosis capped benign cartilage and heterogeneous clinical manifestations. Mutations of EXT1 and EXT2 genes have been cloned and are responsible for over 80% of the cases. We report a case of a six years old female with a diagnosis of hereditary multiple exostosis, that has been multidisciplinary assessed at our institution being the second case study in the Medical Genetics Unit of the Universidad de Los Andes; the clinical and genetic aspects, the differential diagnosis with Oilier disease and Maffucci syndrome were reviewed.

Abscesos cerebelosos como complicación infrecuente de absceso hepático amebiano: Reporte de un caso

El absceso cerebral es una infrecuente y fatal complicación extraintestinal de la infección por E. histolytica. Presentamos el caso de un paciente que falleció por múltiples abscesos cerebelosos asociados con absceso hepático amebiano. Caso clínico: Se trata de paciente masculino, 62 años, proveniente del área metropolitana. Consulta por presentar dolor abdominal en hipocondrio derecho, nauseas, vómitos, fiebre y evacuaciones líquidas. Se diagnosticó absceso hepático de 12 x 8 cm de diámetro, por ultrasonido abdominal, correlacionado con la clínica y hallazgos de laboratorio (leucocitosis, elevación de transaminasas y fosfatasas alcalinas). Adicionalmente, el ELISA indirecto para determinar IgG para E. histolytica resultó positivo. La biopsia guiada por ultrasonido sugiere absceso hepático. Recibió tratamiento con metronidazol y ciprofloxacina por 10 días presentando mejoría clínica y de laboratorio. Sin embargo, consulta nuevamente con reaparición de los síntomas, pero se agrega cefalea occipital de fuerte intensidad. Al examen físico de reingreso se encuentran cifras tensiónales de 157/122 mmHg, refractarias al tratamiento, así como hallazgos de déficit neurológico sugestivos de síndrome cerebeloso. Se realizó tomografía de cráneo donde se evidencian múltiples imágenes hipodensas en probable relación con abscesos. Se planteó drenaje quirúrgico, sin embargo el paciente, falleció a las pocas horas.

Brain abscess are a rare and fatal complication of infection with extraintestinal E. histolytica. We present a patient who died of multiple cerebellar abscesses associated with amebic liver abscess. Clinical case: male, 62 years old, from the metropolitan area. Who came in 4 weeks before his death due to abdominal pain in the right hypochondrium, nausea, vomiting, fever and diarrhea. Liver abscess were diagnosed in 12 x 8 cm diameter, by abdominal ultrasound, correlated with clinical and laboratory findings (leukocytosis, high transaminases and alkaline phosphatases). Additionally, the indirect ELISA to determine IgG to E. histolytica was positive. Biopsy guided by ultrasound is concluded as abscess. The patient received treatment with metronidazole and ciprofloxacin for 10 days showing improvement. However, checked again with recurrence of symptoms, but adds strong occipital headache intensity. Initial physical examination re-found the blood pressure 157/122 mmHg, refractory to treatment, and findings of neurological deficits suggestive of cerebellar syndrome. Cranial tomography was performed which showed multiple hypodense images in connection with probable abscess. Surgical drainage was raised; however the patient evolved torpidly and died within hours.

Schistosoma: cross-reactivity and antigenic community among different species.

It is not unusual to find common molecules among different species of the genus Schistosoma. When those molecules are antigenic, they may be used in immunodiagnosis and vaccines, but they could also be applied to taxonomic and evolutionary studies. To study cross-reactivity and antigenic community among different species of schistosomes, plasmas from laboratory animals infected with Schistosoma bovis, S. guineensis, S. rodhaini, S. haematobium, and four strains of S. mansoni were evaluated with a crude extract of adult worms of S. mansoni by Western blot. Using the multiple antigen blot assay, plasmas from these infected animals were exposed to a selected group of synthetic peptides from Sm28GST, Sm28TPI, Sm elastase, Sm97, Sm32, Sm31, and Sm Cathepsin L. The results presented herein demonstrate differential cross-reactivity and antigenic community among the Mansoni and Haematobium groups of schistosomes, which is of relevance as an additional new tool for phylogenetic studies of schistosomes as well as for diagnosis and vaccine purposes.

Immunogenicity of polymerizable synthetic peptides derived from a vaccine candidate against schistosomiasis: the asparaginyl endopeptidase (Sm32).

The asparaginyl endopeptidase (Sm32) is expressed in the gastrodermal cells of the schistosome gut and in the head glands of the cercariae. Possibly, Sm32 hydrolyzes pro-proteins involved in the degradation of host hemoglobin [Parasitol. Today 12 (1996) 125]. Preliminary evidences using an Sj32/Sm32 murine vaccine have shown a profound effect on oviposition and worm burden [Chin. J. Schist. Control. 7 (1995) 72; Bull. Human Med. Univ. 24 (1999) 225; Vaccine 20 (2002) 439]. The importance of Sm32 as a novel vaccine candidate is based on the possibility of preventing the maturation of other cathepsins and/or preventing schistosome skin invasion. We studied the immunogenicity of polymerizable peptides derived from Sm32 to select potential protective epitopes. Sm32 prediction of T and B epitopes and homology studies with human legumain were performed. Among the variety of factors that influence the antibody response, we specifically examined the effect of: (i) genetic background of mouse strain, inbred (C57BL/6) versus outbred (Swiss) mice; and (ii) vaccination with a single peptide versus pool of peptides. Swiss mice raised antibodies to three different regions of the Sm32, as tested by the Multiple Antigen Blot Assay (MABA): 182-215 (peptides IMT-70 and 72), 244-273 (IMT-64) and 336-355 (IMT-66). None of these regions were immunogenic for C57BL/6. On the contrary, other peptides, IMT-4 (21-40), IMT-12 (101-120) and IMT-26 (292-313) were highly immunogenic for this inbred strain. Only Swiss mice immunized with a single peptide (IMT-64 and 72) or with three different pools of IMT-peptides (Pool A-II: 14, 16, 18, 70, 72, 89; pool A-III: 22, 64, 24, 26, 28 and pool A-V: 64, 66, 28, 70, 72) recognized the original protein in a crude extract of the worm antigen by Western blot. Peptides IMT-64, 14 and 26 were responsible for this recognition. In general, the vaccination with pool of peptides was more immunogenic for both mouse strains. Predicted B cell epitopes, with hydrophilicity scores over +10 (IMT-12, 64, 26) were always immunogenic after either single or combined peptide vaccination. Sm32 sequences 41-80 (IMT-6 and 8), 141-160 (IMT-16) and 182-215 (IMT-70 and 72) were nearly identical to the corresponding human legumain regions and should be excluded from the human vaccine. We can conclude that the regions of Sm32 that were recognized by antibodies of mice immunized with polymerizable peptides depended on the mice strain and on the hydrophilicity score of the peptides.

Antigenic community between Schistosoma mansoni and Biomphalaria glabrata: on the search of candidate antigens for vaccines.

We have previously confirmed the presence of common antigens between Schistosoma mansoni and its vector, Biomphalaria glabrata. Cross-reactive antigens may be important as possible candidates for vaccine and diagnosis of schistosomiasis. Sera from outbred mice immunized with a soluble Biomphalaria glabrata antigen (SBgA) of non-infected B. glabrata snails recognized molecules of SBgA itself and S. mansoni AWA by Western blot. Recognition of several molecules of the SBgA were inhibited by pre-incubation with AWA (16, 30, 36, 60 and 155 kDa). The only specific molecule of AWA, inhibited by SBgA, was a 120 kDa protein. In order to determine which epitopes of SBgA were glycoproteins, the antigen was treated with sodium metaperiodate and compared with non-treated antigen. Molecules of 140, 60 and 24 kDa in the SBgA appear to be glycoproteins. Possible protective effects of the SBgA were evaluated immunizing outbred mice in two different experiments using Freund's Adjuvant. In the first one (12 mice/group), we obtained a significant level of protection (46%) in the total worm load, with a high variability in worm recovery. In the second experiment (22 mice/group), no significant protection was observed, neither in worm load nor in egg production per female. Our results suggest that SBgA constitutes a rich source of candidate antigens for diagnosis and prophylactic studies.

Antigenic community between Schistosoma mansoni and Biomphalaria glabrata: on the search of candidate antigens for vaccines

We have previously confirmed the presence of common antigens between Schistosoma mansoni and its vector, Biomphalaria glabrata. Cross-reactive antigens may be important as possible candidates for vaccine and diagnosis of schistosomiasis. Sera from outbred mice immunized with a soluble Biomphalaria glabrata antigen (SBgA) of non-infected B. glabrata snails recognized molecules of SBgA itself and S. mansoni AWA by Western blot. Recognition of several molecules of the SBgA were inhibited by pre-incubation with AWA (16, 30, 36, 60 and 155 kDa). The only specific molecule of AWA, inhibited by SBgA, was a 120 kDa protein. In order to determine which epitopes of SBgA were glycoproteins, the antigen was treated with sodium metaperiodate and compared with non-treated antigen. Molecules of 140, 60 and 24 kDa in the SBgA appear to be glycoproteins. Possible protective effects of the SBgA were evaluated immunizing outbred mice in two different experiments using Freund's Adjuvant. In the first one (12 mice/group), we obtained a significant level of protection (46 percent) in the total worm load, with a high variability in worm recovery. In the second experiment (22 mice/group), no significant protection was observed, neither in worm load nor in egg production per female. Our results suggest that SBgA constitutes a rich source of candidate antigens for diagnosis and prophylactic studies

Expression of the multidrug-resistance (MDR) gene in breast cancer.

Of the approximately 18,000 new cases of cancer in Venezuela each year, only half can be treated with surgery and radiation. The remainder must be treated systematically using chemotherapy or biological response modifiers. It has become evident that any drug resistant human tumors express the MDR1 gene, since MDR1 RNA levels are elevated in many cancers that do not respond to chemotherapy. Human mammary carcinomas have multiple oncogene alterations, the most frequently reported being overexpression of the oncogenes c-myc, int-2, neu and c-myb. Thirteen specimens of mammary cancer were obtained by biopsy of untreated patients in stage IIIB. All these patients received three cycles of FAC or CMF-L+GM-CSF after biopsy. In the slot blot analysis of RNA from invasive carcinomas, MDR1 and c-myc transcripts were detectable at a high level in 30% of tumors. Two patients with increased levels of MDR1 before chemotherapy did not respond to the treatment and distant metastasis and death occurred in these patients. Another patient, MDR1-negative before therapy, did not respond to CMF-1 + GM-CSF and showed high levels of MDR1 transcripts in a second biopsy which was obtained during surgery.

Salvage of replanted parts of the upper extremity.

Twelve patients with fifteen replanted parts had vascular exploration in order to salvage the replantation after impending failure developed. Arterial occlusion only was found in eleven parts, while arterial and venous occlusion was found in the other four. Vein grafts were used in ten parts, with success in eight. Thrombectomy was done in six, with success in only one. It was possible to salvage nine of the fifteen replanted parts. The best results were obtained when the revision was done within eleven hours after the replantation.

Fetal scalp temperature during labor and its relation to acid-base balance and condition of the newborn.

Fetal scalp temperature and fetal-maternal temperature gradient were studied during well-established labor in a group of 97 patients using a technique that ensured at the same time the adhesion and the thermal insulation of the probe. In 78 infants with a one-minute Apgar score of 7 or above, a positive gradient of 0.2C was maintained throughout labor between the warmer fetal scalp temperature (37.3C) and the maternal rectal temperature. Periodic drops of temperature related to the uterine contractions occurred in only 43% of the cases. In a group of ten infants with a one-minute Apgar score of 6 or below, the fetal-maternal gradient was significantly different from this schema. There was an inversion of the gradient, the fetal scalp temperature becoming cooler (36.9C) than the maternal rectal temperature. The gradient was -0.2C at the beginning of the study and -0.5C 20 minutes before delivery. Periodic drops of temperature with uterine contractions were constant. In dead fetuses, fetal scalp temperature was much below that of the mother and this difference increased steadily until delivery. A good relationship was found between fetal-maternal gradient and the pH of the umbilical artery blood sampled at birth. When the mean gradient was 0.2C +/- 1 SD, pH averaged 7.27; in the group below 1 SD, mean pH was 7.19 (P less than .01).

Gammagrafía renal con ortoidohipurato de sodio I(131) en el postrasplante inmediato. utilización de un "scanning" rectilíneo / Renal radioisotope scanning using o-iodohippurate sodium (I131) during the immmediate post-transplantation period. The use of a rectilinear radioisotope scanning

Se plantea que la concentración del hipurán en el tejido renal afirma la permeabilidad de los vasos renales, y nos sirve para predecir el tiempo de recuperación de la necrosis tubular aguda (NTA). La ausencia de actividad se debe a una oclusión vascular, rechazo hiperagudo o una NTA grave. La arteriografía renal se realizaría solamente a estos pacientes para descartar la primera posibilidad. Se señala que las centelleografías con hipurán, realizadas seriadamente en la necrosis tubular aguda prolongada, son útiles para detectar una complicación inmunológica o séptica del aloinjerto renal. Los estudios realizados con hipurán son de inestimable valor en el diagnóstico de las complicaciones urológicas y en su seguimiento después de ser tratadas quirúrgicamente(AU)