Papillary thyroid carcinoma and multiple endocrine neoplasia type 2.

INTRODUCTION: Papillary thyroid carcinoma (PTC) is exceptional in MEN 2. RESULTS: The analysis in 135 patients revealed two PTC, without C-cell pathology; both being positive for V804M mutation (RET proto-oncogene). CONCLUSIONS: Few data are available about PTC in MEN 2, and without C-cell pathology is even less common. More studies are needed to correlate genetics and histology, and even for assessing PTC as only manifestation of MEN 2.

Aumento de radix: análisis facial / Radix augmnentation: facial analysis / Radix aumento: análise facial

Actualmente, la rinoplastia es más conservadora y las técnicas quirúrgicas tienden a preservar la dimensión del perfil de la nariz en lugar de reducirla. Esto es logrado usando injertos para realiza un aumento del radix a fin de obtener un equilibrio armónico facial y preservar la función respiratoria. El propósito de este trabajo fue definir el promedio de pacientes que aceptaban el aumento del radix. Este es un estudio retrospectivo y descriptivo desarrollado en el área de rinología del Servicio de ORL del Hospital Italiano de Buenos Aires entre febrero del 2013 y septiembre del 2014. Los pacientes incluidos estaban en plan quirúrgico de rinoplastia y presentaban una nariz con joroba con bajo radix, definido por perfilometría y análisis de software durante la evaluación preoperatoria. Aunque la necesidad del aumento del radix es mostrado a los pacientes, es un procedimiento quirúrgico poco aceptado, especialmente por los pacientes de sexo femenino.

Currently, rhinoplasty has been more conservative and surgical techniques tend to preserve the heightof the nose profile instead of reducing it. This isachieved by using grafts to perform a radix augmentationin order to get a harmonic face balanceand the breath function preserved.The purpose of this study was to define the averageof patients that accepted radix augmentation. This is a retrospective and descriptive study developedin the rhinology area of the ENT service at “Hospital Italiano de Buenos Aires” between February of 2013and September of 2014. The patients included werein surgical plan of rhinoplasty and presented humpnose with low radix, defined by perfilometry and software analysis during the preoperative evaluation. Even though the need of radix augmentationis showed up to the patients, it is a low accepted surgical procedure, especially by female patients.

Actualmente, a rinoplastia foi mais conservador e técnicas cirúrgicas tendem a preservar a altura do perfil do nariz, em vez de reduzir. Isto é conseguido por meio de enxertos para realizar um aumento de raiz, a fim de obter um equilíbrio cara harmónica e função da respiração nasal preservada.O objetivo deste estudo foi definir a média de pacientes que aceitaram o aumento raiz. Este é um estudo retrospectivo e descritivo, desenvolvido na área de Rinologia do Serviço de Otorrinolaringologia do “Hospital Italiano de Buenos Aires”, entre fevereiro de 2013 e setembro de 2014. Os pacientes foram incluídos no plano cirúrgico da rinoplastia e apresentou nariz corcunda com baixo radix, definido por perfilometria e software de análise durante a avaliação pré-operatória. Mesmo que a necessidade de radix aumento é mostrou-se aos pacientes, é um procedimento cirúrgico baixo aceite, especialmente por pacientes do sexo feminino.

Alignment of multiple complete genomes suggests that gene rearrangements may contribute towards the speciation of Mycobacteria.

To more accurately define the taxonomic relationships among species belonging to the genus Mycobacterium we have applied and compared three complete genome sequence comparison procedures to existing systems. These included a nucleotide sequence comparison including both coding and no-coding regions of the genome and two genomic-order comparisons using MAUVE and M-GCAT software to provide comparative gene synteny. These methods clearly differentiated a panel of genomes from reference mycobacterial species. Overall, the speciation of bacteria through determination of gene rearrangements were consistent with the gold standard method for species definition in bacteria, DNA-DNA hybridization however within the context of this system, individual components of the Mycobacterium tuberculosis complex (MTBC) did not show sufficient diversity to classify them as a separate species. The high number of gene rearrangements observed between the species tested suggests that gene reorganization of the genome represents an important contributor to speciation within the genus Mycobacterium and other related genera. The absence of rearrangements amongst MTBC supports their consideration as a single genospecies. Some gene rearrangements provided clear internal synteny between genomes of mycobacterial strains belonging to a same species and we suggest these could be used to classify subspecies.

Pemetrexed in the treatment of thoracic malignancies: a single centre experience in Singapore.

INTRODUCTION: This study aimed to examine the efficacy and toxicity of pemetrexed in Singapore. METHODS: We conducted a retrospective review of patients treated with pemetrexed between July 2005 and November 2007. RECIST was used to assess the efficacy independent of the treating physician's assessment, and NCI CTC-AE version 3.0 was used to describe adverse events. RESULTS: 37 patients had non-small-cell lung cancer (NSCLC) and six had malignant pleural mesothelioma. Those with NSCLC had a median age of 60 and an ECOG PS of 0-1, and they were predominantly male, ethnic Chinese and smokers. A median of two cycles were delivered (total 95; range 1-12). Grade 3/4 toxicity was rare. Five (14 percent) patients had an objective response (one complete, four partial) and 13 (35 percent) had stable disease. Median time to treatment failure was 1.86 months (95% confidence interval [CI] 0-6.5). Median overall survival was 18.6 months (95% CI 12.6-27.7). Median age of patients with mesothelioma was 46.5 (range 29-73) years. Five men and one woman received a median of four (total 30, range 1-15) cycles of pemetrexed in combination with cisplatin. Three patients had a partial response, two had stable disease and one had disease progression. Grade 3/4 toxicities were as follows: leucopenia, neutropenia and thrombocytopenia in one patient. CONCLUSION: The results of this retrospective study and literature review show that pemetrexed is safe and efficacious in the treatment of Asian patients with NSCLC and mesothelioma.

[Treatment of intracranial hypertension of malign tumour origin]. / Tratamiento de la hipertensión intracraneal de origen tumoral maligno.

Brain tumours are a frequent cause of intracraneal hypertension syndrome, clinically manifested by headache, nausea and vomiting, and a decrease in the level of consciousness. The keypoint sign of intracraneal hypertension is papilloedema. Other manifestations depend on the localization of the tumour, appearing as neurological focality and seizures. The causes of intracranial hypertension of tumoural origin are the mass effect of the tumour, brain edema, the possibility of intratumoural haemorrhage and hydrocephalus caused by obstruction in the circulation of cerebrospinal fluid. The treatments employed, medical or surgical, act against these causes.

Tratamiento de la hipertensión intracraneal de origen tumoral maligno / Treatment of intracranial hypertension of malign tumour origin

Los tumores cerebrales son una causa frecuente de síndrome de hipertensión intracraneal, manifestado clínicamente mediante cefalea, náuseas, vómitos y alteración del nivel de conciencia. El signo característico de la hipertensión intracraneal es el papiledema. Otras manifestaciones dependen de la localización del tumor, presentándose en forma de focalidad neurológica y crisis epilépticas. Las causas de la hipertensión intracraneal de origen tumoral son el propio efecto de masa del tumor, el edema perilesional, la posibilidad de que se produzca una hemorragia intratumoral y la hidrocefalia por obstrucción en la circulación del líquido cefaloraquídeo. Los tratamientos que se aplican, sean de tipo médico o quirúrgico, actúan sobre estas causas (AU)

Brain tumours are a frequent cause of intracraneal hypertension syndrome, clinically manifested by headache, nausea and vomiting, and a decrease in the level of consciousness. The keypoint sign of intracraneal hypertension is papilloedema. Other manifestations depend on the localization of the tumour, appearing as neurological focality and seizures. The causes of intracranial hypertension of tumoural origin are the mass effect of the tumour, brain edema, the possibility of intratumoural haemorrhage and hydrocephalus caused by obstruction in the circulation of cerebrospinal fluid. The treatments employed, medical or surgical, act against these causes (AU)

Amplification of a 500-base-pair fragment from cultured isolates of Mycobacterium bovis.

The presence of a 500-bp fragment which amplifies a region from the genome of Mycobacterium bovis (J. G. Rodriguez, G. A. Meija, P. Del Portillo, M. E. Patarroyo, and L. A. Murillo, Microbiology 141:2131-2138, 1995) was evaluated by carrying out PCR on 121 M. bovis isolates. The M. bovis strains, previously characterized by culture and biochemical tests, were isolated from cattle in different regions of Argentina, Mexico, and Colombia. Four additional strains isolated from sea lions that belong to the M. tuberculosis complex were also included in the study. All of the isolates tested were PCR positive, rendering the expected 500-bp band and giving a correlation of 100% with previous microbiological characterization. Southern blot analysis revealed a common band of 1, 800 bp and a polymorphic high-molecular-mass hybridization pattern. The results show that this assay may be useful for diagnosis and identification of M. bovis in cattle.

Diagnosis of cutaneous tuberculosis by polymerase chain reaction using a species-specific gene.

BACKGROUND: Diagnosis of tuberculosis (TB), especially cutaneous TBC, by conventional microbiologic methods is still a very laborious process and the results are usually inconclusive. Our purpose was to identify M. tuberculosis bacilli in uncultured clinical samples from skin lesions by means of the rapid, specific, and sensitive polymerase chain reaction (PCR). METHODS: The PCR, using a set of species-specific primers, was performed on biopsies and fluid secretions from lesions. RESULTS: A positive amplification reaction was observed in three of the four samples studied. For one of the samples, the result was confirmed by a positive culture in Löwenstein-Jensen medium and for the other two, by molecular hybridization and the clinical course of the patients after treatment. Samples obtained from a patient with panniculitis of Christian-Weber and a normal skin biopsy were included as negative controls. CONCLUSIONS: We propose the PCR method as a tool for the diagnosis of cutaneous TBC. The presence of the M. tuberculosis in an erythema induratum of Bazin suggests a revision of the concept of this disease as a tuberculide reaction.

Multiprimer PCR system for differential identification of mycobacteria in clinical samples.

A novel multiprimer PCR method with the potential to identify mycobacteria in clinical samples is presented. The assay relies on the simultaneous amplification of three bacterial DNA genomic fragments by using different sets of oligonucleotide primers. The first set of primers amplifies a 506-bp fragment from the gene for the 32-kDa antigen of Mycobacterium tuberculosis, which is present in most of the species belonging to the genus Mycobacterium. The second set of primers amplifies a 984-bp fragment from the IS6110 insertion sequence of the bacteria belonging to the M. tuberculosis complex. The third set of primers, derived from an M. tuberculosis species-specific sequence named MTP40, amplifies a 396-bp genomic fragment. Thus, while the multiprimer system would render three amplification fragments from the M. tuberculosis genome and two fragments from the Mycobacterium bovis genome, a unique amplification fragment would be obtained from nontuberculous mycobacteria. The results obtained, using reference mycobacterial strains and typed clinical isolates, show that the multiprimer PCR method may be a rapid, sensitive, and specific tool for the differential identification of various mycobacterial strains in a single-step assay.

Species-specific identification of Mycobacterium bovis by PCR.

The Random Amplified Polymorphic DNA (RAPD) technique was used in the identification of a species-specific fragment of Mycobacterium bovis. A fragment of approximately 500 bp was amplified from the genome of 15 different M. bovis strains, including M. bovis BCG Pasteur, but was shown to be absent in 26 different mycobacteria and 20 different clinical isolates of Mycobacterium tuberculosis. When the fragment was used as a probe in a Southern blot analysis, several radioactive bands common to M. tuberculosis and M. bovis were observed. However, this fragment hybridized specifically to a 2900 bp EcoRI fragment in the M. bovis genome, but failed to hybridize in either M. tuberculosis or M. avium chromosomal DNA. Based on a partial nucleotide sequence of the 500 bp fragment, two oligonucleotide primers were designed and a PCR assay was developed. Using purified mycobacterial DNA samples, only M. bovis and M. bovis BCG rendered a unique amplification band. This PCR assay is able to detect down to 10 fg purified M. bovis DNA, which corresponds roughly to two bacilli. The assay is also useful for identifying the bacilli directly from uncultured biological samples, such as milk.

Amplification of a species-specific DNA fragment of Mycobacterium tuberculosis and its possible use in diagnosis.

In recent work, a species-specific Mycobacterium tuberculosis DNA fragment was cloned and sequenced. On the basis of its nucleotide sequence, two oligonucleotides were synthesized and used as primers for polymerase chain reaction (PCR) amplification. A 396-bp fragment was specifically amplified from the M. tuberculosis genome. No amplification was observed from any of 10 different mycobacterial strains, included those belonging to the M. tuberculosis complex. Neither was this fragment amplified from genomes of humans or different species of clinically important bacteria. The PCR product was detected by dot blot hybridization even when as little as 10 fg of purified M. tuberculosis DNA was used. This amplification method was subsequently used to detect and identify bacilli in different clinical samples, such as sputum, urine, and cerebrospinal fluid. A good correlation was observed between the results obtained with the PCR method that we describe and other diagnostic tests currently used. Thus, PCR amplification of this genomic fragment is proposed as a specific, rapid, and sensitive test for the diagnosis of infection with M. tuberculosis.

Isolation, characterization, and molecular cloning of a specific Mycobacterium tuberculosis antigen gene: identification of a species-specific sequence.

A rabbit polyclonal antiserum exhibiting a specific recognition pattern for Mycobacterium tuberculosis proteins was used to screen an M. tuberculosis genomic library constructed in the expression vector lambda gt11. One clone, denominated C1:10, expressed M. tuberculosis-specific determinants as part of a large fusion protein with beta-galactosidase. The gene for this protein has been sequenced, and it encodes a protein of 134 amino acids (13.8 kDa) which did not display significant homology with any of the previously reported proteins in the data bases. Hybridization studies with restriction fragments of the cloned sequence revealed that it was not present in the genomes of related mycobacteria, namely, M. bovis, M. bovis BCG, M. flavescens, M. fortuitum, M. phlei, and M. vaccae. These findings suggest that we have detected a gene, or a fragment therefrom, unique for M. tuberculosis whose nucleotide and amino acid sequences could be useful tools in the design of an improved vaccine or a diagnostic method of greater accuracy for tuberculosis.

Intranasal flunisolide, placebo and beclomethasone dipropionate in perennial rhinitis.

Flunisolide nasal spray has been compared with placebo and with beclomethasone dipropionate in the treatment of perennial rhinitis. A double-blind, cross-over study in 26 patients comparing intranasal flunisolide (total dose 300 microgram/day) with placebo showed superiority of the active preparation in the relief of sneezing, stuffiness and runny nose. Physicians and patients significantly preferred the active spray. Side-effects on both sprays were mainly confined to transient nasal irritation. Plasma cortisol levels did not change significantly during the trial. A single-blind, cross-over study in 34 patients comparing flunisolide and beclomethasone dipropionate showed relief of sneezing, stuffiness, runny nose and nose-blowing with both medications. There were no differences between the effects of the two preparations. Physicians and patients favoured the drugs equally. Side-effects were minor.