Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

Effects of the radiofrequency interference with modified titanium surgical clips on liver parenchyma--an in vivo experiment.

AIM: This study sets out to test the biocompatibility of titanium clips in liver, in the presence of radiofrequency. Biocompatibility is assessed at various distances from the RF electrode and different points in time. METHOD: It is an experimental study conducted on pigs and makes use of histological changes that occur at the liver-titanium interface in presence of RF to test hypotheses. The titanium clips were modified in high vacuum (10 -5 atm) by heating them at 1000 degrees C and 1150 degrees C. Titanium clips were placed in liver at 0.5, 1.5 and 2.5 cm from RF probe. At 7, 14 and 28 days the inflammation, necrosis and fibrosis were assessed. RESULTS: The histological alterations decrease with the distance of implantation of titanium clips. The inflammation and necrosis nearby the titanium clips decrease in time, but the fibrosis does not increased, as expected. The modified titanium at 1000 degrees C clips cause less necrosis than commercial titanium clips. The moderator role of clip type between distance and cell alteration is empirically supported only for fibrosis and necrosis. The moderator role between time and cell alteration is supported only for inflammation. CONCLUSIONS: Experimental data suggests there are no preferred surgical clips in all situations. The biocompatibility of the titanium clips depends on the distance from the RF probe. The commercial ones prove less damaging if they are placed close to the RF probe (less than 1 cm) and those that were treated at 1150 C have a better bio-compatibility if placed more than 1 cm from RF probe.

Laryngeal tremor: co-occurrence with other movement disorders.

INTRODUCTION: Limited epidemiologic information exists regarding the co-occurrence of laryngeal tremor (LT) and tremor in other parts of the body, and of other movement disorders. Tremor is the involuntary skeletal muscle contraction that leads to oscillatory movement. It can affect many parts of the body including the chin, neck, laryngeal muscles, or limbs. When it is not associated with parkinsonism, it is called an essential tremor. We reviewed our 5-year experience with LT patients and the presence of other movement disorders. METHODS: We performed a retrospective review of 29 patients with LT seen in a voice clinic over a 5-year period from January 2004 to April 2009. RESULTS: Of the 29 patients, 27 (93%) had co-incidence of another movement disorder. Of these patients, 45% had spasmodic dysphonia, 41% had oropharyngeal tremors, 38% had essential limb tremor, 31% had orofacial dystonias, and 24% had essential head and neck tremor. Only 1 patient (3%) presented with Parkinson's disease. CONCLUSION: Otolaryngologists may be the first to evaluate a patient for tremors. It is important to consider other movement disorders when examining these patients as neurologic assessment and treatment of other tremors may be beneficial.

Assessement by laser Doppler of the peripheral tumour perfusion after radiofrequency ablation for colorectal liver mestasis--experimental study.

Colorectal cancer became one of the most frequent malignant conditions of the past two decades. Non-resecable liver metastases might be destroyed in situ by radiofrequency although the local recurrence is still very important. Laser-Doppler flowmetry has proved to be a simple technique for monitoring the microcirculation, hereby the tissue perfusion at the edge of the post radiofrequency necrosis. The aim of the study was to evaluate microcirculation using lasser-Doppler for hepatic tissue and peripheral tumour perfusion after radiofrequency and the influence of local temperature increasing at 42 degrees C on tissular perfusion. Colorectal adenocarcinoma (CC531s) was used for liver tumour inoculationin on 15 Wag/Rij rats. Twenty-one days after inoculation, perfusion in hepatic tissue, on the tumour before and after radiofrequency treatment was mesured. When hepatic tissue was heated at 42 degrees C there was an increase in tissular perfusion, on the other part, heating the tumoural tissue do not increase perfusion. After radiofrequency in the periphery of necrosis the perfusion was still present, despite a clear drop towards initial level. Assessing the local microcirculation and tissue temperature during RF ablation by Laser-Doppler might be useful not only for RF efficiency evaluation but also as an indication for associating adjuvant local chemotherapy.

[Multiple cutaneous cylindromas associated with parotid and submandibular gland cylindromas]. / Cylindromes cutanés multiples associés à des cylindromes des glandes parotide et sous-mandibulaire.

BACKGROUND: Multiple cutaneous cylindromas are uncommonly associated with extracutaneous cylindromas. An association between cutaneous cylindromas and salivary gland cylindromas would probably not be fortuitous. CASE REPORT: A 66-year-old man developed multiple cutaneous cylindromas and cylindromas situated in the parotid and submaxillary gland. Histology was similar for both localizations. DISCUSSION: This association was probably not fortuitous as the histology was similar, other cases have been reported in the literature, and recent complaint concerned the development of multiple cutaneous cylindromas and salivary gland cylindromas. Salivary gland cylindromas should be searched for in patients who develop cutaneous cylindromas as they are more aggressive in nature.