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Evaluation of longitudinal millimeter-resolution whole-brain dynamic contrast-enhanced MRI bounds the coefficient of variation for median volume transfer constant to be less than 57% in healthy tissue regions.

In a multisite study of brain MR spectroscopy performed at 26 sites, interindividual differences were found as the main contributor to variability, demonstrating that appropriately analyzed MR spectroscopy data acquired at different sites and with different scanners can be compared.

Background: Hippocampal volume is reduced in Major Depressive Disorder (MDD), but the extent to which hippocampal function is altered in the context of MDD, particularly in young adults, is not well established. The hippocampus is important in recollection memory, a cognitive domain that is often impaired in depressed adults. Objective: This pilot functional Magnetic Resonance Imaging (fMRI) study aimed to assess hippocampal activity during a verbal memory task in unmedicated young adults with MDD (18-24 years of age) relative to healthy age-matched Controls. Method: Brain activity was measured in hippocampal regions during verbal encoding and retrieval, and compared between groups (N=11 in each group); exploratory whole-brain assessments were also carried out. Results: Greater right hippocampal activity during verbal memory encoding (vs. retrieval) was apparent in Controls. Further, in the MDD group, left hippocampal activity during encoding (vs. retrieval) was positively related to depression symptom severity and number of previous depressive episodes. Conclusion: This pilot study is a stepping stone in examining the effect of depression on hippocampal function in young adults.

Single photon emission computerized tomography (SPECT) studies were performed on 34 manifest Huntington's disease (HD) patients at various stages of clinical pathology ranging from early chorea to late dystonia with or without signs of dementia and 12 pre-symptomatic patients with abnormal terminal CAG expansions. Thirty HD patients with obvious clinical signs and seven pre-symptomatic patients without signs or symptoms of HD displayed selective caudate hypoperfusion by direct visual inspection. Such qualitative, selective striatal hypoperfusion patterns can be indicative of early and persistent metabolic changes in striatal neuropathology. SPECT studies can be useful in documenting early pre-clinical changes in patients with abnormal terminal CAG expansions and in confirming the presence of caudate pathology in patients with clinical signs of HD.

Holoprosencephaly (HPE) is a common developmental defect involving the brain and face in humans. Cytogenetic deletions in patients with HPE have localized one of the HPE genes (HPE2) to the chromosomal region 2p21. Here we report the molecular genetic characterization of nine HPE patients with cytogenetic deletions or translocations involving 2p21. We have determined the parental origin of the deleted chromosomes and defined the HPE2 critical region between D2S119 and D2S88/D2S391. As a first step towards cloning the HPE2 gene which is crucial for normal brain development we have constructed a YAC contig which spans the smallest region of deletion overlap. Several of these YACs could be identified which span three different 2p21 breakpoints in HPE patients. These YACs narrow the HPE2 critical region to less than 1 Mb and are now being further analyzed to identify the gene causing holoprosencephaly on chromosome 2.

During the last five years, 52 interruptions of pregnancy between the fourth and sixth months have been performed by the injection of a 1/1000.0 (0.1 per cent) rivanol solution. The solution was injected into the uterine cavity extraovulatory without opening of the membranes. The solution was introduced through a metal catheter between the uterine wall and the fetal membranes. For patients referred to us during the first trimester of pregnancy, the interruption of the pregnancy was done through dilatation and curettage. If the patient was at the end of the third month or later, we postponed the operation until 4 full months of gestation. The uterus started to contract after 4 to 8 hours, and the patient often aborted 20 to 24 hours after the injection. In the majority of the cases, a curettage was done. There were no failures and all patients aborted. In 90 per cent of the cases, an oxytocin∗∗Pitocin, Parke, Davis & Co., Detroit, Michigan.drip was given, and in some quinine orally and pitocin intramuscularly were given. There were 28 primigravid cases and 24 multigravid cases. Most of the fetuses were born alive. There were no deaths, and the morbidity was very low. In 5 cases, estriol and pregnandiol levels were taken before and after the abortion. No significant difference was found.

Prenatal diagnosis literature expresses risk for complication of genetic amniocentesis as 1/200, 1/300, etc. The dysmorphology literature expresses incidence of major human malformations as 2-5%; Myrianthopoulos found this to be more on the order of 6.8% after following 65,000 children for 7. We have undertaken a chart review of all amniocenteses performed since opening a private medical genetics practice in suburban Chicago, IL. We have done over 3000. Reviewing the first 300, performed between 3/89 and 4/91, excluding pregnancies known to have had adverse outcomes, we sent letters to patients, followed by phone calls. Loss to follow-up was considerable given the lengthy time interval. We present here the results in 1) short-term complications of the procedure, 2) late pregnancy problems, 3) delivery problems, 4) neonatal difficulties, 5) malformations appreciated at delivery or 6) discovered later, 7) birth weight/length, 8) childhood illnesses, 9) follow-up weight/height, 10) school performance. We compare early (<15 weeks) to traditional (15+ weeks) procedures across all criteria. We discuss roles of operator experience and bias, and other issues pertinent to appropriate pre-amnio counseling practices.

Many community hospitals with religious historical foundations hold strict policies against pregnancy termination. Prenatal detection of severe malformations and/or genetic disorders in the fetus provides opportunity for choices regarding the continuation or termination of pregnancy, posing quandaries. Patients often must travel significant distances and meet entirely new health care providers at a juncture when emotion and anxiety levels are high. We present a policy, in a religiously based community hospital, designed to allow termination of pregnancies in which lethal conditions have been detected by prenatal testing. We describe the process by which a multidisciplinary committee worked through ethical, moral, social and religious issues to craft a document which was perceived as acceptable within the context of the hospital tradition while also meeting patient needs.