Hemiballismus following general anesthesia. A case report.

Hemiballismus is characterized by the abrupt onset of violent proximal flinging movements, affecting the limbs, neck and trunk on one side of the body. It is caused by the lesion in the region of the contralateral subthalamic nucleus of the Luys. Usually it is a self-limiting disease, lasting 6-8 weeks. A 49-year-old man has been admitted to the hospital after flinging movements of his right arm and the right side of the trunk occurred. A few days earlier he had undergone general anesthesia prior to a dental procedure. There was trouble in waking the patient afterwards. The movements lasted a few days. MRI of the brain revealed ischemic lesions areas in T2-weighted images localized in the region of globus pallidus bilaterally. EEG was abnormal, and showed slowed background activity with slow waves in left temporal lobe. He was treated with haloperidol, clonazepam and vasoactive medications. In spite of administered treatment, hemiballic movements reappeared occasionally. Due to increased frequency of the movements the patient was hospitalized again two years later. The second MRI revealed changes described earlier and a new ischaemic focus in left parietal lobe. Continuation of treatment with haloperidol was administered.

Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001.

[M235T polymorphism of human angiotensinogen gene in essential hypertension in Polish population]. / Polimorfizm M235T ludzkiego genu angiotensynogenu w pierwotnym nadcisnieniu tetniczym w populacji polskiej.

Genetic factors play very important role in the pathogenesis of essential hypertension. Angiotensinogen gene is one of the candidate genes in the research concerning genetic background of elevated blood pressure. The aim of this work was to assess an association of M235T polymorphism in human angiotensinogen gene with essential hypertension in Polish population. 250 patients with essential hypertension and 150 normotensives were involved in the study. M235T polymorphism was detected using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. Polymorphic allele and genotypes frequencies did not differ between hypertensive and normotensive groups. However T allele and TT genotype frequency among hypertensive men was higher than in normotensive men. The difference is statistically significant. T allele and TT genotype occurred more frequently in hypertensives with positive family history of essential hypertension. The difference between hypertensive men with positive family history and normotensive men was even more significant. This results are similar to those already published by other authors concerning Caucasian populations and indicate that angiotensinogen gene is involved in the determination of at least some cases of essential hypertension.

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

The RPGR (retinitis pigmentosa GTPase regulator) gene for RP3, the most frequent genetic subtype of X-linked retinitis pigmentosa (XLRP), has been shown to be mutated in 10%-15% of European XLRP patients. We have examined the RPGR gene for mutations in a cohort of 80 affected males from apparently unrelated XLRP families, by direct sequencing of the PCR-amplified products from the genomic DNA. Fifteen different putative disease-causing mutations were identified in 17 of the 80 families; these include four nonsense mutations, one missense mutation, six microdeletions, and four intronic-sequence substitutions resulting in splice defects. Most of the mutations were detected in the conserved N-terminal region of the RPGR protein, containing tandem repeats homologous to those present in the RCC-1 protein (a guanine nucleotide-exchange factor for Ran-GTPase). Our results indicate that mutations either in as yet uncharacterized sequences of the RPGR gene or in another gene located in its vicinity may be a more frequent cause of XLRP. The reported studies will be beneficial in establishing genotype-phenotype correlations and should lead to further investigations seeking to understand the mechanism of disease pathogenesis.

Construction of human embryonic cDNA libraries: HD, PKD1 and BRCA1 are transcribed widely during embryogenesis.

We used the polymerase chain reaction (PCR) to construct cDNA libraries from small amounts of tissue and to screen cDNA libraries efficiently for the presence of given sequences. To isolate genes expressed in early human development, we constructed both oligo dT-primed and random hexamer-primed cDNA libraries from ten different tissues of human embryos aged 53 to 78 days post conception. Given the small amount of RNA available, it was necessary to amplify the resultant cDNA using PCR to generate sufficient amounts of cDNA for library construction. As a result of using PCR followed by sizing to eliminate smaller synthesized fragments, the size of the synthesized product was > or = 650 base pairs and the average initial complexity of the given libraries was 10(6). We screened these cDNA libraries efficiently using PCR. Primers corresponding to a given gene were used to amplify DNA from phages encompassing a cDNA library. Successful amplification of the appropriate-sized fragment demonstrated that the DNA in question was transcribed in a given tissue. We demonstrated that HD (huntingtin, the protein transcribed from the Huntington disease locus), PKD1 (the most common gene responsible for familial polycystic kidney disease) and BRCA1 (a gene responsible for familial breast cancer) are synthesized nearly ubiquitously (including during embryogenesis). Thus, these human embryonic cDNA libraries constitute a unique resource to study early human development.