[Obesity and its implication in breast cancer]. / Obesidad y su implicación en el cáncer de mama.

Obesity and breast cancer are two very frequent pathologies in the world today, which have a strong impact on society. Various research studies have tried linking the two. For this purpose, data was collected from the medical histories of 524 women who had been diagnosed and treated for breast cancer from January 2009 to September 2010. The objectives of the study were to find and verify a possible association between the nutritional state of these women and their age when they were diagnosed with the tumour (p < 0.0001) as well as a statistically significant association (p < 0.0001) between the age of the first menstruation and the nutritional state of the patients. The results obtained showed that obesity was closely related to breast cancer.

Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.

INTRODUCTION: Mutations in the glucokinase gene (GCK) produce a subtype of Maturity onset diabetes in the young (MODY), named MODY 2. To date over than 190 different mutations have been identified, distributed over the coding regions and the exon-intron boundaries of the gene. The aim of this work was to study the nature and frequency of mutations in the GCK gene, in a MODY clinically characterized Argentinean population. MATERIAL AND METHODS: Seventy unrelated individuals were selected based on MODY clinical features. The study methodology consisted in PCR amplification of the coding regions of the GCK gene, SSCP electrophoresis analysis of the amplified fragments and direct sequencing of the fragments with abnormal electrophoresis pattern. RESULTS: We identified a total of six patients with mutations in the GCK gene. This included two novel mutations: g.1831C>A, g.3792T>A, one already reported by our group, g.168fsdelC (same mutation in two non-related patients) and two already reported: p.Gln138Pro and p.Gly261Glu. With that data, we could establish the prevalence of MODY 2 among the patients in study reaching to 8.6%. DISCUSSION: The main contribution of this study is to inform about two novel mutations not described to date and to make an approach to the establishment of the prevalence of MODY 2 in the population under study. These findings contribute to confirm the allelic heterogeneity of GCK gene mutations and may provide an insight into the structure-function relationship of the GCK.

Genotipificacion del gen HLA DQB1 en diabetes autoinmune del adulto ( LADA ) / HLA DQB1 genotyping in latent autoimmune diabetes of adults ( LADA )

La diabetes autoinmune es una enfermedad multifactorial causada por factores genéticos predisponentes y ambientales desencadenantes. Se manifiesta en la edad infantojuvenil (diabetes tipo 1, DMID) y en la edad adulta (diabetes autoinmune latente del adulto, LADA). La predisposición genética es de tipo poligénico, se ha establecido asociación con alelos polimórficos del gen DQB del sistema HLA, VNTR del gen de insulina y polimorfismos en el gen CTLA4. En el presente trabajo se analizaron las frecuencias de los alelos polimórficos del gen HLA DQB1 en 63 pacientes LADA, 70 pacientes DMID y 79 individuos normales. La tipificación de los alelos del gen DQB1 se llevó a cabo mediante el Kit SSPTM DQ Olerup. Se observó una mayor frecuencia del genotipo *0201-*0302 y *0201-*0201 en ambas poblaciones diabéticas con respecto a normales (p<0.05). La presencia del genotipo *0201-*0302 fue mayor en DMID que en LADA (p<0.05). Por otra parte, el análisis del alelo protector *0602 muestra una alta prevalencia en individuos normales con respecto a la población diabética. El alelo de susceptibilidad más frecuente en pacientes LADA y DMID de nuestro país fue el *0201. En conclusión, LADA presenta susceptibilidad genética dada por alelos del gen HLA DQB1 pero en forma menos determinante que en diabetes tipo 1. A su vez, el hallazgo del aumento en la frecuencia del alelo *0201, tanto en frecuencias alélicas como genotípicas permite caracterizar nuestra población de pacientes tanto LADA como DMID a diferencia de otras poblaciones en las que el alelo más frecuente es el *0302. (AU)

Genotipificacion del gen HLA DQB1 en diabetes autoinmune del adulto ( LADA ) / HLA DQB1 genotyping in latent autoimmune diabetes of adults ( LADA )

La diabetes autoinmune es una enfermedad multifactorial causada por factores genéticos predisponentes y ambientales desencadenantes. Se manifiesta en la edad infantojuvenil (diabetes tipo 1, DMID) y en la edad adulta (diabetes autoinmune latente del adulto, LADA). La predisposición genética es de tipo poligénico, se ha establecido asociación con alelos polimórficos del gen DQB del sistema HLA, VNTR del gen de insulina y polimorfismos en el gen CTLA4. En el presente trabajo se analizaron las frecuencias de los alelos polimórficos del gen HLA DQB1 en 63 pacientes LADA, 70 pacientes DMID y 79 individuos normales. La tipificación de los alelos del gen DQB1 se llevó a cabo mediante el Kit SSPTM DQ Olerup. Se observó una mayor frecuencia del genotipo *0201-*0302 y *0201-*0201 en ambas poblaciones diabéticas con respecto a normales (p<0.05). La presencia del genotipo *0201-*0302 fue mayor en DMID que en LADA (p<0.05). Por otra parte, el análisis del alelo protector *0602 muestra una alta prevalencia en individuos normales con respecto a la población diabética. El alelo de susceptibilidad más frecuente en pacientes LADA y DMID de nuestro país fue el *0201. En conclusión, LADA presenta susceptibilidad genética dada por alelos del gen HLA DQB1 pero en forma menos determinante que en diabetes tipo 1. A su vez, el hallazgo del aumento en la frecuencia del alelo *0201, tanto en frecuencias alélicas como genotípicas permite caracterizar nuestra población de pacientes tanto LADA como DMID a diferencia de otras poblaciones en las que el alelo más frecuente es el *0302.

[Vegetative pyoderma gangrenosum associated with renal failure]. / Pioderma gangrenoso vegetante asociado con insuficiencia renal.

A case report was presented in which a patient developed vegetative pyoderma gangrenosum that was concomitant with acute renal failure; this led to the critical condition of the patient. He was initially treated with systemic antibiotics because his clinical picture was considered to be pyodermitis, but the response was unsatisfactory. After being treated with levamizol and alfa interferon, an improvement in his general condition and skin lesions was observed. Then surgical exeresis was successfully performed, with skin self-grafting in the face and penis lesions. Pyoderma gangrenosum lesions relapsed but they were treated with prednisone, and then there was a rapid elimination of lesions every time they came up.

A pilot study of noninvasive methods to assess healed acute and chronic wounds.

BACKGROUND: A variety of instruments are available that can objectively assess physical parameters of the skin such as strength, firmness, elasticity, hydration, and color, often undetected by clinical assessment. OBJECTIVE: To assess the physical properties of healed acute and chronic wounds using several noninvasive instruments. METHODS: Four patients with healed acute wounds and four patients with healed chronic wounds were studied using ballistometric, impedance, levarometric, and spectrophotometric measurements. RESULTS: In general, scars were harder, less elastic, dryer, and more erythematous than control skin. These differences were more pronounced in healed chronic wounds. CONCLUSION: A scar from an acute surgical wound becomes softer, more elastic, dryer, less erythematous, and less pigmented as it ages. In contrast, chronic wound scars become harder as they age. These different properties of healed acute wounds and healed chronic wounds may be a result of the different healing processes in each wound type.

CHILD syndrome with linear eruptions, hypopigmented bands, and verruciform xanthoma.

A Colombian girl was born with linear verrucous lesions of the right forearm and fingers, hypopigmented bands and streaks on the right arm, verrucous plaques on the right labium majus which extended to the right upper inner thigh, a crooked right tibia, nasal septum deviation to the right, lumbar kyphoscoliosis to the right, and other right-sided abnormalities. Radiographs showed stippled calcification of the tibial epiphysis, hypoplasia of the calcaneus, and astragalus of the right foot and delta phalanges of the right ring finger. Histologic examination demonstrated hyperkeratosis with ortho- and parakeratosis of the acanthotic epidermis. Keratinocytes in the lower epidermis and connective tissue cells, Schwann cells, and capillary endothelial cells of the papillary dermis showed marked vacuolization, a picture compatible with verruciform xanthoma. Electron microscopy revealed lipid vacuoles with lamellar contents and occasional crystals, compatible with cholesterol, in the dermal cells. Other abnormalities included a large number of vesicles and vacuoles in the upper epidermal keratinocytes and a lack of typical cementsomes; the vesicles and vacuoles were thought to represent abnormal cementsomes (lamellar granules).

Tissue concentrations and bioactivity of amphotericin B in cancer patients treated with amphotericin B-deoxycholate.

We have studied amphotericin B concentrations in tissues of 13 cancer patients who died after having received 75 to 1,110 mg (total dose) of amphotericin B-deoxycholate for suspected or proven disseminated fungal infection. Amphotericin B concentrations were measured by high-pressure liquid chromatography (HPLC) and by bioassay, the latter being done on tissue homogenates as well as on tissue methanolic extracts. The fungistatic and fungicidal titers of the tissue homogenates were also tested against three strains of Candida albicans and one strain of Aspergillus fumigatus. Tissue concentrations of amphotericin B measured by HPLC varied with the tested tissues as well as with the total dose of amphotericin B-deoxycholate administered and ranged from 0.4 to 147.1 micrograms/g. A mean of 38.3% (range, 23.0 to 51.3%) of the total dose was recovered by HPLC from all of the tested organs. Bioassay of tissue methanolic extracts reached 58 to 81% of the concentration measured by HPLC, whereas only 15 to 41% was recovered from the homogenates. Overall, 27.5% of the total dose was recovered from the liver, 5.2% was recovered from the spleen, 3.2% was recovered from the lungs, and 1.5% was recovered from the kidneys. The median concentration in bile was 7.3 micrograms/ml, suggesting that biliary excretion could contribute to amphotericin B elimination to an estimated range of 0.8 to 14.6% of the daily dose. Fungicidal titers were seldom measured in tissues, but fungistatic titers were observed and were linearly correlated with amphotericin B concentration measured by HPLC. In conclusion, only a small proportion of the amphotericin B administered as amphotericin B-deoxycholate to patients seems diffusible and bioactive.

Diarrhea in AIDS.

The spectrum of illness associated with AIDS has been enlarging since its initial description in 1981, and the gastrointaestinal tract continues to be one of the major targets of this devastating disease. The many causative agents are discussed in this article, including bacteria, viruses, fungi, protozoa, helminths, and various noninfectious diseases.

Bactericidal activity and killing rate of serum from volunteers receiving pefloxacin alone or in combination with amikacin.

Serum bactericidal activities (SBAs) were studied after intravenous administration of pefloxacin (8 mg/kg) and amikacin (7.5 mg/kg) alone or in combination to 15 human volunteers. About 10 strains each of Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, and Staphylococcus aureus were tested. The serum levels of pefloxacin were measured microbiologically by using E. coli KP 1976-712 as the test organism at 0, 30, 60, 120, and 720 min after infusion; at 0, 30, 60, and 720 min these levels were 7 +/- 1.4, 5 +/- 0.8, 4.5 +/- 0.7, and 2.1 +/- 0.6 mg/liter (mean +/- standard deviation), respectively, with a terminal half-life of 10 h. The serum levels of pefloxacin in the presence of amikacin were measured similarly; 1% sodium polyanethol sulfonate was added to the agar to inactivate amikacin. Treatment with pefloxacin alone resulted in high SBAs against E. coli, K. pneumoniae strains susceptible to cephalothin, and Staphylococcus aureus at the peak concentration; 81 to 100% of the sera had SBAs of greater than or equal to 1:8. However, treatment with pefloxacin alone resulted in low SBAs against K. pneumoniae strains resistant to cephalothin and P. aeruginosa; only 34% of the sera had SBAs of greater than or equal to 1:8. At trough concentrations the percentages of sera with SBAs greater than or equal to 1:8 were 75 to 83% (E. coli), 9 to 27% (K. pneumoniae), 0% (P. aeruginosa), and 10% (S. aureus). The combination of pefloxacin plus amikacin was most often additive; the peak activity was due to amikacin, and the trough activity was due to pefloxacin. Occasionally antagonism occurred with P. aeruginosa, K. pneumoniae, and S. aureus strains. These observations were confirmed by the killing curves in pooled serum obtained at peak and trough levels. Regrowth was observed for seven strains of P. aeruginosa treated with pefloxacin alone; amikacin seemed to prevent this phenomenon.