[PALB2, a major susceptibility gene for breast cancer]. / PALB2, gène majeur de susceptibilité au cancer du sein.

OBJECTIVES: About 5% of breast cancers are linked to an inherited predisposition, the two most known susceptibility genes being BRCA1 and BRCA2. Recently, new susceptibility genes, including PALB2, have been identified. The risk of breast cancer associated with a deleterious mutation of PALB2, the age of onset of these cancers, their prognosis and associated cancers have so far been the subject of controversy. Our objective was to clarify these different questions from an updated review of the literature. METHODS: The analyzed articles were taken from the PUBMED database between January 2008 and December 2015. The keywords used were "breast cancer" and "PALB2". RESULTS: Women with PALB2 mutations have a higher risk than the general population of developing breast cancer. The relative risk is significant, varying according to the different studies between 3,4 (IC 95%: 2,4-5,9) and 9,47 (IC 95%: 5,72-14,39). The different mutations as well as environmental and geographical factors should be taking into account when interpreting these results. There is currently no proven link between a PALB2 mutation and the occurrence of ovarian or pancreas cancer. CONCLUSION: PALB2 must be considered as a high-penetrance breast cancer predisposing gene. Women with a PALB2 mutation face an increased risk of triple negative breast cancer and higher risk of death from breast cancer.

Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet.

Phenylketonuria (PKU) leads to severe neurological disorders in childhood, shunned by the diet. The long-term prognosis after diet diversification at adolescence is uncertain. We report a case of cortical blindness in a young patient regressive 1 month after the diet was resumed.Mr M., 25 years old, had PKU detected at birth. He maintained good serum levels of Phenylalanine (Phe) (120-300 µmol/L) during childhood and got a normal intellectual development. During adolescence he diversified his diet but maintained low meat and fish intake; Phe was ~1,200 µmol/L with no symptoms. In 2009, the patient stopped the low-Phe amino acid substitutes due to weariness. On June 27, 2011, he consulted for a decrease of visual acuity progressing for 6 months. Ophthalmologic examination found that visual acuity was 2/10 in two eyes associated to a central visual field defect. The visual evoked potentials were altered. MRI showed bilateral and symmetric occipital FLAIR hyperintensities. On admission in the Nutrional Unit on June 29, 2011, blood pressure was 120/70 mmHg, there was no other neurological abnormality. Phe was at 1,512 µmol/L, and not responsive to BH4. He was then treated with a very low-Phe diet with an amino acid substitute, and he obtained Phe between 120 and 300 µmol/L. Visual acuity was suddenly restored on August 1, 2011, with a dramatic attenuation of the MRI hyperintensities.Our observation shows that the withdrawal of the diet and substitutes exposes to serious neurological complications in adults that may reverse with a fast nutritional support.

[Analysis and treatment of a patient with bilateral pthiriasis palpebrarum]. / Analyse iconographique et prise en charge d'une pthiriase ciliaire bilatérale.

OBSERVATION: a 41-year-old man presented to the ophthalmologic emergency department with ocular burns. The examination showed many parasites at several stages of the parasitic cycle. The parasitologic analysis found many Pthirus pubis in the eyelids. The dermatological consultation determined that other locations were affected and sought other sexually transmitted diseases and also detected other exposed patients. The detailed clinical examination determined the type of ectoparasite concerned and noted the various phases of its parasitic cycle. The differential diagnosis with Pthirus capitatis can be difficult and its treatment is different. Precise knowledge of the various ectoparasites provided the diagnosis. Screening for sexually transmitted diseases and investigations of the subjects' contacts were essential. CONCLUSION: the diagnosis of pthiriasis is easy at an advanced stage; however, it could be more difficult at earlier stages. Its treatment is not often familiar to the ophthalmologist. Eradicating pthiriasis without investigating other sexually transmitted infections as well as the subjects' contacts could have more serious consequences on public health.

Detection of Mycoplasma hyopneumoniae by polymerase chain reaction in swine presenting respiratory problems / Detecção do mycoplasma hyopneumoniae pela reação em cadeia da polimerase em suínos apresentando problemas respiratórios

Since Mycoplasma hyopneumoniae isolation in appropriate media is a difficult task and impractical for daily routine diagnostics, Nested-PCR (N-PCR) techniques are currently used to improve the direct diagnostic sensitivity of Swine Enzootic Pneumonia. In a first experiment, this paper describes a N-PCR technique optimization based on three variables: different sampling sites, sample transport media, and DNA extraction methods, using eight pigs. Based on the optimization results, a second experiment was conducted for testing validity using 40 animals. In conclusion, the obtained results of the N-PCR optimization and validation allow us to recommend this test as a routine monitoring diagnostic method for Mycoplasma hyopneumoniae infection in swine herds.

A Nested-PCR (N-PCR) tem como objetivo melhorar a sensibilidade do diagnóstico direto da Pneumonia Enzoótica Suína, pois o isolamento do Mycoplasma hyopneumoniae é trabalhoso tornando-se inviável na rotina. Neste trabalho, foi realizado um projeto piloto para a otimização da técnica de N-PCR, utilizando três variáveis: tipo de amostra biológica, meio de transporte da amostra e método de extração do DNA, utilizando oito animais. Os resultados obtidos foram empregados no segundo experimento para a validação do teste utilizando 40 animais. Os resultados obtidos, pela otimização da N-PCR, neste trabalho, permite sugerir esta prova como método de diagnóstico de rotina no monitoramento das infecções por Mycoplasma hyopneumoniae em granjas de suínos.

Detection of Mycoplasma hyopneumoniae by polymerase chain reaction in swine presenting respiratory problems.

Since Mycoplasma hyopneumoniae isolation in appropriate media is a difficult task and impractical for daily routine diagnostics, Nested-PCR (N-PCR) techniques are currently used to improve the direct diagnostic sensitivity of Swine Enzootic Pneumonia. In a first experiment, this paper describes a N-PCR technique optimization based on three variables: different sampling sites, sample transport media, and DNA extraction methods, using eight pigs. Based on the optimization results, a second experiment was conducted for testing validity using 40 animals. In conclusion, the obtained results of the N-PCR optimization and validation allow us to recommend this test as a routine monitoring diagnostic method for Mycoplasma hyopneumoniae infection in swine herds.

Evaluation of the electrolytic etching depth of a nickel-chromium base alloy used in resin-bonded cast restorations.

This study examined the relation of the electrolytic etching depth of a nickel-chromium base alloy to the etching time. Cast samples (22 mm long, 4 mm wide, 1.5 mm thick) were etched in the Eltrokor etching unit, using Korolyt A as the etching solution with a constant current density of 400 mA/cm2. On each sample an approximately 3 mm long area was etched for 5, 7, 9, and 11 minutes. Between each etched area, a field of approximately 2 mm long remained unetched. The surface of each sample was scanned with a profilometer. The distance of the compensation plane of the scanned etched profile to the unetched areas was then measured for each etching time. The average etched depth with an etching time of 5 minutes is 30.4 microns (SD 2.39); with a time of 7 minutes the depth is 44 microns (SD 3.49); with a time of 9 minutes the depth is 59.8 microns (SD 4.10); and with an etching time of 11 minutes the depth is 72.9 microns (SD 2.94). Taking the average of all etching depths per etching time, the average loss of substance is 6.409 microns per minute etching time.