SummaryA review of 116 cases of coexistent brain tumours and intracranial arterial aneurysms is made. The eases were collected from the literature, personal experience (8 cases) and different ncurosurgical centres all over the world.According to the literature the general incidence of intraeranial arterial aneurysms does not seem to be higher in brain tumours than in the general population. Our own material is not suitable to contribute to this question.Several factors may explain the presence of some intracranial arterial aneurysm accompanying different groups of brain tumours. Localization as well as local circulatory changes may be responsible for the higher incidence of intracranial arterial aneurysms, especially those located in the internM carotid artery group found associated with tumours at the base of the skull (basal meningiomas and pituitary adenomas). A high incidence of aneurysms of the middle cerebral artery group accompanying ipselateral tumours may be due to an increased regional blood flow, because of the vascularity of certain tumours.A dysgenetic factor might explain the high incidence of multiple aneurysms in meningiomas and other various tumours of congenital origin.Clinically the presenting symptomatology was mainly one of a space occupying lesion. From a therapeutic point of view a combined surgical approach to tumour and aneurysm is accompanied by better results in basal meningiomas and pituitary adenomas.

BACKGROUND: Blood group single nucleotide polymorphism genotyping probes for a limited range of polymorphisms. This study investigated whether massively parallel sequencing (also known as next-generation sequencing), with a targeted exome strategy, provides an extended blood group genotype and the extent to which massively parallel sequencing correctly genotypes in homologous gene systems, such as RH and MNS. STUDY DESIGN AND METHODS: Donor samples(n 5 28) that were extensively phenotyped and genotyped using single nucleotide polymorphism typing, were analyzed using the TruSight One Sequencing Panel and MiSeq platform. Genes for 28 protein-based blood group systems, GATA1, and KLF1 were analyzed. Copy number variation analysis was used to characterize complex structural variants in the GYPC and RH systems. RESULTS:The average sequencing depth per target region was 66.2 6 39.8. Each sample harbored on average 43 6 9 variants, of which 10 6 3 were used for genotyping. For the 28 samples, massively parallel sequencing variant sequences correctly matched expected sequences based on single nucleotide polymorphism genotyping data. Copy number variation analysis defined the Rh C/c alleles and complex RHD hybrids. Hybrid RHD*D-CE-D variants were correctly identified, but copy number variation analysis did not confidently distinguish between D and CE exon deletion versus rearrangement. CONCLUSION:The targeted exome sequencing strategy employed extended the range of blood group genotypes detected compared with single nucleotide polymorphism typing. This single-test format included detection of complex MNS hybrid cases and, with copy number variation analysis, defined RH hybrid genes along with the RHCE*C allele hitherto difficult to resolve by variant detection. The approach is economical compared with whole-genome sequencing and is suitable for a red blood cell reference laboratory setting.H uman blood group antigens are of significance in transfusion medicine, because patients who have made antibodies to red blood cell antigens are at risk of being affected by hemolytic transfusion reactions after the transfusion of incompatible blood. The International Society of Blood Transfusion has defined 36 blood group systems and over 350 blood group antigens.1 Different blood group systems exhibit varying degrees of antigen polymorphism, and the clinical significance of red blood cell antibodies also varies. [2][3][4] As a minimum requirement in blood transfusion safety, all blood donors are screened for ABO and the D antigen as well as for blood group antibodies known to be clinically significant. 5The majority of antigens are missense mutations and a consequence of single nucleotide variants (SNVs); however, genetic variations, such as insertions/deletions and splice-site variants, have a qualitative and/or quantitative impact on antigen expression. Blood group systems, such as RH and MNS, exhibit an additional layer of genetic variation. These arise because each system comprises homologous genes in which gene crossover or g...

The underlying cause of polyhydramnios, rather than the relative excess of amniotic fluid as defined by this study, appears to determine when preterm labor will occur.

Targeted exome sequencing resolved complex serology problems and defined both novel blood group alleles (CD55:c.203G>A, ABCB6:c.1118_1124delCGGATCG, ABCB6:c.1656-1G>A, and RHD:c.452G>A) and rare variants on blood group alleles associated with altered phenotypes. This study illustrates the utility of exome sequencing, in conjunction with serology, as an alternative approach to resolve complex cases.

The purpose of this investigation was two-fold, first, to determine the incidence of amniotic sheets in our obstetric population; and, second, to elucidate the maternal and fetal complications associated with this particular finding. In this retrospective study, we searched the computerized records of the ultrasound department for the presence of amniotic sheets in singleton pregnancies from 1 March 1991 to 17 September 1993. Sonographic criteria for an amniotic sheet included the findings that (1) a reflective membrane attached to the placenta at one end or the other, with measurable thickness, was identified traversing the amniotic fluid; and (2) the fetus was not attached to the membrane, and fetal ability to move without restriction was ascertained. An amniotic sheet was identified in 79 of 17,553 examinations (0.45%) performed between 12 and 28 weeks' gestation. Two subsets of amniotic sheets were identified: perpendicular and not perpendicular. The sheets in the first subset were orientated perpendicular to the placental surface and were more likely to be associated with an abnormal presentation at delivery (p < 0.001) and a history of pelvic inflammatory disease, but not with a history of prior Cesarean section, or previous dilatation and curettage. The second subset of amniotic sheets were non-perpendicular, either oblique or parallel, in orientation to the placental surface and were associated with fewer maternal complications. Of the study group, 40.7% had a history of vaginal bleeding. The incidence of vaginal bleeding was not significantly different between those patients with perpendicular or those with non-perpendicular amniotic sheets. We conclude that perpendicular, in contrast to non-perpendicular, amniotic sheets are more commonly associated with breech presentation at term and a past history of pelvic inflammatory disease.