[Unilateral polyposis: evaluation of preoperative tests]. / Poliposis unilaterales: evaluación de las pruebas preoperatorias.

UNLABELLED: The aim of this paper is to study a group of patients with occupancy of a nasal fossal, apparently by polyps, and being the other side of the nose normal. Evaluating on the one hand the true incidence of unspecific polyposis and, of other diagnosis, and on the other hand to compare the preoperative radiological findings with those seen during surgery. MATERIAL AND METHODS: A prospective study of 23 consecutive patients was carried out over a period of 30 months at the ENT Department of the Dr. Peset Hospital, in Valencia. A CT scan and preoperative biopsy was performed in all cases, the results of these being later compared with the surgical findings and the final histopathologic diagnosis. RESULTS AND CONCLUSIONS: A discrepancy between the preoperative biopsy and final diagnosis was found in 26% of the patients. The incidence of polyposis was 52%, inverted papilloma 26%, malignant tumours 13% and other diagnosis 8.6%. There is a good correlation between preoperative CT scans and surgical findings in those cases of polyposis and inverted papilloma, but not in those of malignant tumours as CT scans often underestimated these lesions.

Poliposis unilaterales: evaluación de las pruebas preoperatorias / Unilateral polyposis: evaluation of preoperative tests

El objetivo del trabajo es estudiar a aquellos pacientes que presentan una ocupación unilateral de fosa nasal, en apariencia polipoidea, y la fosa contralateral normal.Valorando, por un lado, la incidencia real de poliposis inespecíficas y de otros diagnósticos. Y, por otro lado, comparamos los datos que nos ofrece la radiología preoperatoria con los hallazgos quirúrgicos encontrados. Material y métodos: Hacemos un estudio prospectivo de 23 pacientes recogidos en un periodo de 30 meses en el servicio de ORL del Hospital Dr. Peset de Valencia. Se realiza en todos los pacientes TAC y biopsia preoperatoria, comparándolos posteriormente con los hallazgos quirúrgicos y el diagnóstico anatomopatológico definitivo. Resultados y conclusiones: Hubo discordancia entre la biopsia preoperatoria y el diagnóstico definitivo en el 26 por ciento de los pacientes, siendo la incidencia de poliposis del 52 por ciento, papilomas invertidos del 26 por ciento, tumores malignos el 13 por ciento y otros diagnósticos 8,6 por ciento. Hay una buena correlación entre La TAC preoperatoria y los hallazgos quirúrgicos en las poliposis y los papilomas invertidos, pero no en los tumores malignos donde la TAC suele infravalorar las lesiones. (AU)

The aim of this paper is to study a group of patients with occupancy of a nasal fossal, apparently by polyps, and being the other side of the nose normal. Evaluating on the one hand the true incidence of unspecific polyposis and, of other diagnosis, and on the other hand to compare the preoperative radiological findings with those seen during surgery. MATERIAL AND METHODS: A prospective study of 23 consecutive patients was carried out over a period of 30 months at the ENT Department of the Dr. Peset Hospital, in Valencia. A CT scan and preoperative biopsy was performed in all cases, the results of these being later compared with the surgical findings and the final histopathologic diagnosis. RESULTS AND CONCLUSIONS: A discrepancy between the preoperative biopsy and final diagnosis was found in 26% of the patients. The incidence of polyposis was 52%, inverted papilloma 26%, malignant tumours 13% and other diagnosis 8.6%. There is a good correlation between preoperative CT scans and surgical findings in those cases of polyposis and inverted papilloma, but not in those of malignant tumours as CT scans often underestimated these lesions (AU)

[The results and evaluation of septoplasty in an outpatient surgical unit]. / Resultados y evaluación de la septoplastia en la unidad de cirugía sin ingreso.

With this work we intend to appreciate the true value of outcomes of a series of 48 patients operated on septoplasty under general anesthesia in the surgical unit without admission (SUWA) during a 18 months term. We evaluate the incidence of postoperative complications as well the criteria for medical and social selection of candidates. We have verified that septum deviation in association with rhinitis increases the incidence of postoperative complications. Nevertheless, we have confirmed also that septal surgery is a procedure with low rate of complications and seemly good to carry out at surgical unit without admission, provided are strictly followed the criteria for selection of the cases in order to minimize the risks.

[Long-term follow-up of 2 therapeutic programs for the treatment of high-risk childhood acute lymphoblastic leukemia. Experience at the 20 de Noviembre National Medical Center]. / Seguimiento a largo plazo de dos programas terapéuticos para el tratamiento de la leucemia aguda linfoblástica infantil de riesgo alto. Experiencia del Centro Médico Nacional 20 de Noviembre.

This paper reports the long-term, disease-free survival of children with high-risk (HR) acute lymphoblastic leukemia (ALL) treated with two different chemotherapy regimens. HR was defined in children with ALL, younger than 2 or older than 10 years, with or without initial extrahematopoietic disease, with a leukocyte count higher than 25 x 10(9)L, or with L3 FAB type. The first group, LAL1, included 67 patients; they received induction with vincristine (VCR) and prednisone (PDN), early consolidation with 3 cycles of 6-mercaptopurine (6MP), citarabine (ARA) and VCR: central nervous system (CNS) prophylaxis (PFX) consisted of both chemotherapy in induction, consolidation and maintenance, radiotherapy (RT) in consolidation. Maintenance was given with 6MP, methotrexate (MTX), VCR adriamycin (ADR), ARA, cyclophosphamide (CFA) and PDN. The second group, LAL2, with 45 patients, received induction with VCR, PDN, CFA, epirrubicin (EPI), L-Asparaginase (L-ASP); early and late consolidation with 6MP, ARA, VCR, carmustine (BCNU), CFA, EPI, MTX and teniposide 8VM26): CNS PFX consisted of both chemotherapy in induction, consolidation and maintenance, RT in consolidation, maintenance with 6MP, MTX, EPI, CFA, ARA VM26 and BCNU. At the time of diagnosis, both groups were comparable. Disease-free survival probability, for LAL1 group was 0.41 at 14 years and for LAL2 group 0.34 at 8 years (p = 0.45). In the LAL1 group there were three failures and 20 relapses, and in the LAL2 group, there were two failures and 22 relapses. CNS relapses were one and seven in LAL1 and LAL2 groups respectively (p = 0.04). In the LAL2, group relapses were more frequent in patients with dose reduction or difered dose due to marrow toxicity (p = 0.02). We believe that the increase in CNS relapse in the LAL2 group was caused by the late administration of CNS PFX. We also believe that although intensive chemotherapy can increase long-term survival, dose adjustments due to marrow toxicity have a negative effect on long-term, relapse-free survival.

[Tracheopatia osteochondroplastica. A case report]. / Traqueopatía osteocondroplástica. A propósito de un caso.

Tracheoplastia osteoplastica is a rare benign disease of the trachea and major bronchi that is characterized by bony and cartilaginous submucosal nodules covered by normal mucosa. Localized lesions rarely produce clinical manifestations and most symptomatic patients have extensive, diffuse lesions. The bronchoscopic findings are typical and the diagnosis is confirmed by biopsy. We report a case of tracheopathia osteoplastica diagnosed by bronchoscopy in a 64-year-old woman.

[Primary tuberculosis of the lingual tonsil. A case report]. / Tuberculosis primaria en amígdala lingual. A propósito de un caso.

A case of primary tuberculosis of the lingual amygdala is reported. This is a highly unusual location in the head and neck area. This entity can be easily misdiagnosed as a result of confusion with other pathologies.

[Long-term results of 2 therapeutic protocols in children with acute lymphoblastic leukemia of usual risk. Experience at the 20th of November National Medical Center]. / Resultados a largo plazo de dos protocolos terapéuticos, en niños con leucemia linfoblástica aguda de riesgo habitual. Experiencia en el Centro Médico Nacional "20 de Noviembre".

The purpose of this study is to know the disease-free survival in children with acute lymphoblastic leukemia (ALL), submitted to two therapeutic programs. Habitual risk was defined as age older than 2 and younger than 10 years, without neurological, mediastinal or testicular infiltrations, leukocytes < 25 x 10(9)/l and morphologic cell type distinct of L-3. The first group (LAL81) included 30 patients, from 1981 to 1986, and they received: induction with vincristine (VCR) and prednisone (PDN); consolidation with mercaptopurine (MP), cytosine arabinoside (ARA) and doxorubicin (DOX); prophylaxis to the central nervous system (CNS) with radiotherapy and methotrexate (MTX)-ARA-hydrocortisone (HDR) intrathecal, and maintenance with MP and MTX. In the second group (LAL87), 28 patients were included from 1987 to 1993. They received: induction with VCR, PDN and lasparaginase (ASP); consolidation with MP, ARA, DOX, carmustine (BCNU) and cyclophosphamide (CFA); prophylaxis to the (CNS) with intrathecal MTX-ARA-HDR, and maintenance with MP and MTX. There was just one therapeutic failure. In the LAL81, protocol 11 relapses and 9 in LAL87 (p = 0.71) were observed. Of these, two in each group went to the CNS. The disease-free survival in LAL81 was 0.39 at 14 years; in LAL87, was 0.53 at 8 years (p = 0.62).

Vertebral and eye anomalies, cutis aplasia, and short stature (VECS): a new syndrome?

We report on a 6-year-old girl with short stature, facial anomalies, cutis aplasia, nasolacrimal duct obstruction, megalocorneae, kyphoscoliosis with multiple segmentation defects of the thoracic vertebrae, and 11 pairs of ribs. These anomalies together may represent a newly recognized syndrome.

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.

[Necrotizing fasciitis of the head and neck. Report of 4 cases of cervical necrotizing fasciitis]. / Fascitis necrotizante en cabeza y cuello. A propósito de cuatro casos de fascitis necrotizante cervical.

Necrotizing fasciitis is a severe polybacteria infection characterised by necrosis of the fascial and adjacent soft tissues with rapid expansion of the infection along fascial planes. It may originate potentially fatal complications and often is accompanied by systemic toxicity. It is not a frequent entity in the head and neck, but early diagnosis is very important because early treatment based on intravenous antibiotherapy and aggressive surgical debridement can prevent complications that often cause the death of the patient. Pour reports of necrotizing fasciitis are presented, one of them with fatal outcome, which leads us to emphasize the importance of an early diagnosis.

Participación del líquido folicular en el desarrollo del folículo, la maduración del ovocito y la función espermática / Participation of follicular fluid in follicle development, oocyte maturity and spermatic function

El estudio de la composición del líquido folicular (LF) es de gran importancia en reproducción asistida, por la función que éste desempeña en la maduración del ovocito y en la capacitación espermática. La composición bioquímica del LF está influenciada por el estado de maduración del folículo y recíprocamente dicha composición predice el éxito de la subsecuente maduración folicular y el embarazo. En la mayoría de las especies las concentraciones elevadas de estradiol son comunes de los folículos de madurez intermedia la progesterona de los maduros y los andrógenos de los atrésicos. La concentración del estradiol está asociada con la capacidad fertilizante de los ovocitos y la de sus metabolitos con la estimulación de la producción de progesterona. Además, el IF regula la acción de las gonadotropinas, al favorecer la unión de éstas a su receptor. El LF contribuye regulando la meiosis, ya que contiene factores que estimulan la maduración del ovocito o que bloquean la habilidad de los gránulos corticales para modificar los componentes de la zona pelúcida. Asimismo, la exposición de los espermatozoides a este fluido favorece la reacción acrosomal, su movilidad y la capacidad para penetrar al óvulo

Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis.

We have reported a kindred in which 46,XY gonadal dysgenesis was inherited in an X-linked (or autosomal dominant sex-limited) manner and in which affected subjects did not have a large duplication of the short arm of the X-chromosome. In the present study we used linkage and sequence analyses to test the role of X-linked and various autosomal genes in the etiology of the familial 46,XY partial gonadal dysgenesis. For analysis of X-linkage, 28 microsatellite polymorphisms and 1 restriction fragment length polymorphism were studied. The genotypes of informative family members were determined at each locus, and data were analyzed. Despite the large number of loci tested, our studies did not establish linkage between the trait and an X-chromosomal locus. With respect to the study of autosomal genes, linkage analysis using a polymorphism within the 3'-untranslated region of the WT1 gene excluded involvement of WT-1 in the etiology of the abnormal gonadal differentiation of the family in this study. Similarly, linkage analysis using four microsatellites on the distal short arm of chromosome 9 was not consistent with linkage. Linkage analysis of a locus close to the SOX9 gene as well as analysis of the coding region of the SOX9 gene suggested that this gene was not associated with the trait in the affected subjects we studied. Our data suggest the role of an autosomal gene in the abnormal gonadal differentiation in the family in the study, but do not formally exclude the role of an X-chromosome gene.

[Busulfan versus busulfan-interferon as maintenance therapy in chronic myeloid leukemia]. / Busulfán versus busulfán-interterón como terapia de mantenimiento en leucemia mieloide crónica.

We studied 30 patients in order to evaluate the therapeutic efficacy and toxicity of alfa interferon associated with busulfan as maintenance treatment in de novo chronic granulocytic leukemia. Patients received 0.2 mg/kg of busulfan and reached complete hematological remission (CHR). Patients were then randomized in two groups: one to receive busulfan to be administered when the leukocyte count was above 15 x 10(9)/L, and another to receive subcutaneously 5 million IU of alpha-interferon three times per week (plus busulfan if the leukocyte count went above 15 x 10(9)/L). The duration of CHR was longer in the alfa-interferon group: 31 vs 16 months (p = 0.03) but no cytogenetic remissions were observed. Alfa interferon was well tolerated: no patient was excluded from the study due to toxicity.

Searching for human epilepsy genes: a progress report.

Application of new genetic techniques has brought remarkable discoveries in the study of genetic diseases. The potential benefits from applying such technology to idiopathic epilepsies include improved understanding of cellular mechanisms and potential new methods of prevention and treatment. The complex problems involved in studying the hereditary epilepsies include: defining of specific phenotypes; detecting genetic and non-genetic heterogeneity; and specifying the appropriate mode of inheritance and penetrance. The gene loci for three primary epilepsies have been localized to specific chromosomal regions, and serve to demonstrate the process used in generalized linkage studies of hereditary epilepsy syndromes. Benign familial neonatal convulsions (BFNC) and Unverricht-Lundborg progressive myoclonus epilepsy are rare single-gene disorders that are sufficiently localized to chromosomal regions that positional cloning studies are likely to succeed. Juvenile myoclonic epilepsy (JME), a common hereditary syndrome with an uncertain mode of inheritance, has been reported to be linked to chromosome 6p. JME presents a challenge for generalized linkage methodology that may be overcome by attending to potential problems reviewed here. The candidate-gene method, combined with studies using animal models, holds promise for understanding these as well as other hereditary epilepsies.

Allelic association and linkage studies in Wilson disease.

We have studied 21 families with Wilson disease (WND), using restriction fragment length polymorphisms (RFLPs) in the 13q14.3 region, to measure linkage of these markers to the disease locus. In addition to previously described markers, we include linkage data for a newly isolated marker (D13S86) and an established marker (D13S56), which were previously not placed on the genetic map in the region of the WND locus. Our data, including those from two recombinant families, support the location of WND between the markers D13S31 and D13S59. We have examined the distribution of marker alleles at the loci studied and have found that D13S31 and D13S228, and associated microsatellite marker, show a non-random distribution on chromosomes carrying the WND mutation. The significant linkage disequilibrium indicates that these two markers must be close to the WND locus.

Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

We studied a kindred of 69 affected individuals with the autosomal dominant epileptic syndrome of benign familial neonatal convulsions, linked to chromosome 20. Forty-two percent had their seizure onset on day 3, while remission took place in 68% during the first 6 weeks. Seizures were brief and the phenotype was of a mixed seizure type, starting with tonic posture, ocular symptoms, apnea, and other autonomic features. The seizure often progressed to clonic movements and motor automatisms. The postictal state was brief, and interictally the neonates looked well. The ictal EEG pattern with generalized suppression of amplitude on onset may be relatively unique. Neurocognitive outcome was usually normal, but the risk for subsequent epilepsy was 16%. Most of the later epilepsy was generalized tonic or tonic-clonic, and some seizures were provoked, raising the possibility of an unusual form of reflex epilepsy.

Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.

The condition termed 46,XY complete gonadal dysgenesis is characterized by the lack of testicular determination with resulting streak gonads, normal Mullerian structures, and female external genitalia. In the partial form, there is incomplete testicular determination with a wide range in the degree of ambiguous genitalia and sexual duct development. We evaluated a kindred in which a partial form of 46,XY gonadal dysgenesis occurred in four subjects from two generations. Pedigree analysis indicated an X-linked or possibly an autosomal sex-limited mode of inheritance. All affected subjects were ascertained because of ambiguous genitalia with minimal virilization. At 10 days of age, the proband had a subnormal plasma level of testosterone, and at 4 months, there was no rise in plasma T after stimulation with hCG. At laparotomy, a dysgenetic gonad was found on the right side, but no gonad was found on the left side. A vas deferens was present on the right, indicating the presence of functional Leydig cells early in fetal life. In the other affected subjects, gonadal tissue was also limited to one side of the abdomen and showed poorly developed seminiferous tubules. The sex-determining region Y gene, which encodes the testis-determining factor, was present and unaltered in the genomic DNA of all affected subjects. Duplication of the distal short arm of the X-chromosome has been associated with 46,XY complete gonadal dysgenesis in some patients. In our studies, Southern blot analysis revealed that sequences of the distal short arm of the X-chromosome (DXS9 to DXS84) were present in single copy, excluding a large duplication in this area of the X. Several kindreds with familial 46,XY complete gonadal dysgenesis have been reported; five of them had evidence of an X-linked mode of inheritance. Our study of a kindred with 46,XY partial gonadal dysgenesis further supports the role of an X chromosome gene in testicular determination. Evidence of some fetal Leydig cell function in the affected subjects of our report suggests that mutations of the putative X-chromosome gene can result in a partial as well as complete defect in testicular determination.

Cocaine use patterns and overdose.

The question of how cocaine overdoses are related to preferred routes of cocaine administration and other aspects of cocaine use patterns is sufficiently complex that very little information is available on it. Even the most extensive information on cocaine overdoses, that of the Drug Abuse Warning Network, is severely limited for purposes of examining this topic. Findings are presented from a 1988-1990 study of a purposive but demographically diverse sample of 699 crack and other cocaine users in Miami, 349 of them interviewed in residential treatment and 350 interviewed on the street. Among these respondents: a history of cocaine overdose is extremely common; overdose episodes do not commonly motivate treatment entry and in some populations are relatively unlikely to result in an emergency room visit; cocaine overdose is less associated with crack smoking than with snorting or intravenous (IV) use, whereas IV use is especially likely to result in overdose; and the street and treatment samples are strikingly different in regard to drug use patterns, overdose history, changes some users made to use patterns as a result of overdose experiences, and reasons given by other users for not making such changes.