Tetrasomy 9p: Tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review

Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described only for 12p, 18p, and 9p. Nineteen previous cases of tetrasomy 9p have been reported, and in 6 cases, tissue-specific mosaicism was implied with the i(9p) cell line present exclusively or predominantly in blood. We report on an infant who had apparently normal chromosomes (46,XY) on CVS. He was referred for genetic evaluation because of mild developmental delay and minor anomalies. In 75% of blood cells he had an extra isodicentric 9p chromosome (pter→q12→pter). The interpretation of tetrasomy 9p was confirmed by elevated GALT activity. No tetrasomy 9p cells were seen in 100 skin fibroblasts. This case demonstrates the tissue specific mosaicism in tetrasomy 9p which rendered the anomaly undetectable by CVS. It also demonstrates the mild end of the clinical spectrum associated with tetrasomy 9p. © 1993 Wiley-Liss, Inc.     

Gout drugs use and risk of cancer: A case-control study

Objective

Firm conclusion about whether short and long-term gout medications use has an impact on cancer risk remain inconclusive. The aim of this study was to investigate the association between gout drugs use and risk of cancer.

The role of reactive oxygen species and apoptosis in the pathogenesis of varicocele in a rat model and efficiency of vitamin E treatment

We investigated role of reactive oxygen species (ROS) and apoptosis in the pathogenesis of infertility in experimental model of varicocele. The protective effect of vitamin E was also examined. Three groups of rats were constructed as the first group had sham operation, experimental varicoceles were established by partial ligation of the left renal vein in later two groups. Third group had received vitamin E. Production of ROS was determined by chemiluminescence assay (CL). The in situ end labelling technique was utilized to investigate apoptosis. Tissue vitamin E levels were measured by high performance liquid chromatography. The differences between luminol enhanced CL levels of groups were not statistically significant. However, the difference between CL levels of lucigenin probe in left testicles of sham and varicocele groups were statistically significant ( p = 0.0007). Similarly, the results of the third group receiving vitamin E significantly differed from the varicocele group ( p = 0.0025). The difference of apoptotic index was also statistically significant between sham and varicocele groups ( p = 0.0038). Although the values of apoptotic index detected in the vitamin E group were lower compared with the varicocele group, the difference was not significant. This study proposes that ROS production and apoptosis in the testicles were induced with experimental varicocele. Vitamin E had a protective role. An increased rate of apoptosis with experimental varicocele suggests a molecular alteration, which may involve ROS overproduction as the triggering mechanism. Consequently, this study indicates an association between varicocele and infertility at molecular level through stimulation of ROS and apoptosis.     

Dementia prevalence,care arrangement,and access to care in Lebanon: A pilot study

Introduction

In North Africa and the Middle East, studies about dementia prevalence are scarce. A pilot study was conducted in Lebanon to assess dementia prevalence, using the Arabic-validated 10/66 Dementia Research Group (DRG) diagnostic assessment for case ascertainment. The study also examined care arrangement and access to care.

Identification of sentinel lymph node in stage I-II breast cancer with lymphoscintigraphy and surgical gamma probe: comparison of Tc-99m MIBI and Tc-99m sulfur colloid

AIM: To evaluate the efficacy of the surgical gamma probe (SGP) after peritumoral injection of Tc-99m MIBI and filtered Tc-99m sulfur colloid (SC) in sentinel lymph node (SLN) detection in stage I and II breast cancer for deciding on the need for axillary dissection. MATERIALS AND METHODS: Thirty patients with stage I-II breast cancer had peritumoral injection of Tc-99m MIBI (74 MBq/0.2 mL [2 mCi/0.2 mL] at 4 different locations) and 42 different patients had peritumoral injection of filtered Tc-99m sulfur colloid (50 MBq/0.2 mL [1.3 mCi/0.2 mL] at 4 different locations). Anterior, lateral, and anterolateral spot images were acquired at 10, 30, 45, 60, and 120 minutes and 24 hours are injection in 5 patients. During surgery, counts were obtained from the injection site, affected breast tissue, internal mammary, axillary, and supraclavicular regions and the contralateral side using the gamma probe. Peritumoral blue dye was also injected during surgery. The first lymph nodes with counts at least twice the background tissue and/or with blue dye uptake were surgically isolated. Modified radical mastectomy and axillary dissection were performed. RESULTS: Histopathologic evaluation was made on SLN and other excised tissues. In the Tc-99m sulfur colloid group, lymphatic drainage and lymph nodes were demonstrated with lymphoscintigraphy in 31 of 42 patients. SLN was detected by SGP in 35 of 42 patients. In the Tc-99m MIBI group, lymphatic drainage and lymph nodes were visualized with lymphoscintigraphy in 23 of 30 patients. SLN was detected in 25 of 30 patients with SGP in this group. CONCLUSION: In patients with stage I-II breast cancer, SLN could be successfully demonstrated with lymphoscintigraphy and SGP by the peritumoral injection of filtered Tc-99m sulfur colloid and Tc-99m MIBI.     

Organelle dynamics and dysfunction: A closer link between peroxisomes and mitochondria

Summary  Mitochondria and peroxisomes are ubiquitous subcellular organelles, which fulfil an indispensable role in the cellular metabolism of higher eukaryotes. Moreover, they are highly dynamic and display large plasticity. There is growing evidence now that both organelles exhibit a closer interrelationship than previously appreciated. This connection includes metabolic cooperations and cross-talk, a novel putative mitochondria-to-peroxisome vesicular trafficking pathway, as well as an overlap in key components of their fission machinery. Thus, peroxisomal alterations in metabolism, biogenesis, dynamics and proliferation can potentially influence mitochondrial functions, and vice versa. In this review, we present the latest progress in the emerging field of peroxisomal and mitochondrial interrelationship with a particular emphasis on organelle dynamics and its implication in diseases. Competing interests: None declared Presented at the Annual Symposium of the SSIEM, Lisbon, Portugal, 2–5 September 2008     

Sydenham's chorea: a clinical follow-up of 65 patients

Sydenham's chorea, the neurological manifestation of rheumatic fever, is the most common acquired chorea of childhood. In this retrospective study, the authors aim to present the clinical and laboratory findings of 65 Sydenham's chorea patients, followed up in a clinic over less than 7 years. The mean age at the onset of the symptoms was 11.7 +/- 2.6 years (range, 6-17 years). Of the patients, 63% were female and 37% were male (male/female: 1.7/1). Chorea was generalized in 78.5% of the patients, right hemichorea in 12.3%, and left hemichorea 9.2%. There was a history of rheumatic fever in 30.8% of the patients. Echocardiographic study showed cardiac valve involvement in 70.5% of 61 patients. Brain magnetic resonance imaging, which was performed on only 18 patients, was evaluated as normal in all. Electroencephalography was also performed on only 18 patients and showed abnormal waves in 50% of them. Pimozide was mostly the first choice of drug therapy. Nevertheless, drug therapy was not needed in 18.5% of the patients. The recovery period of the first attack of the chorea was 1 to 6 months in 51.7% of the patients. The recurrence rate was 37.9%. In conclusion, Sydenham's chorea is still an important health problem in Turkey with respect to its morbidity.