Pregnancy in Bloom's Syndrome

This report describes the clinical and cytogenetic findings in a young woman with Bloom's Syndrome, who was successfully delivered of a healthy child 6 years after the diagnosis of the condition. This is the first reported case of pregnancy in a patient with Bloom's Syndrome.     

Failure of ablation of a mediastinal parathyroid adenoma by repeated contrast staining

In a patient with primary hyperparathyroidism an attempt was made to ablate a middle mediastinal parathyroid gland by forceful staining with radiographic contrast material. The gland was stained on two separate occasions, two weeks apart. Both times the serum calcium level temporarily fell to the normal range but reverted to abnormal levels. The patient ultimately required surgery for correction of hypercalcemia. The mechanism of staining and possible reasons for failure as well as potential complications are discussed.     

The current status of combined radiotherapy and chemotherapy for locally advanced or resected pancreas cancer

Pancreas cancer is the fourth most common cause of cancer deaths. Even for the small percentage of patients who can undergo surgical resection of the primary tumor, the risk of recurrence remains unacceptably high. For patients with localized disease that is not amenable to surgical resection, pain related to the primary tumor can significantly impair quality of life. Attempts to improve the duration and quality of life for these patients have included both chemotherapy and radiotherapy. The addition of chemotherapy to radiation may enhance the local effects of radiation or provide treatment of disease outside the radiation field. The results of clinical trials evaluating the appropriate therapy for locally advanced or resected disease have been inconsistent. In some instances, the methods used in these studies became outdated before the results were available. Hopefully, advances in radiation techniques and systemic drug therapy will provide more durable and clinically relevant results. Meanwhile, treatment decisions should be tailored to the clinical situation, including consideration of treatment toxicity and therapy goals. Recognizing which patients are likely to benefit from combination therapy or systemic therapy alone is a subject of future and ongoing clinical trials.     

Stage 2 of the Wellcome Trust UK-Irish bipolar affective disorder sibling-pair genome screen: evidence for linkage on chromosomes 6q16-q21, 4q12-q21, 9p21, 10p14-p12 and 18q22

Bipolar affective disorder (BPAD) is a common psychiatric disorder with complex genetic aetiology. We have undertaken a genome-wide scan in one of the largest samples of bipolar affected sibling pairs (ASPs) using a two-stage approach combining sample splitting and marker grid tightening. In this second stage analysis, we have examined 17 regions that achieved a nominally significant maximum likelihood LOD score (MLS) threshold of 0.74 (or 1.18 for the X-chromosome) in stage one. The second stage has added 135 ASP families to bring the total stage 2 sample to 395 ASPs. In total, 494 microsatellite markers have been used to screen the human genome at a density of 10 cM in the first stage sample (260 ASPs) and 5 cM in the second stage. Under the broad diagnostic model, two markers gave LOD scores exceeding 3 with two-point analysis: D4S392 (LOD=3.30) and D10S197 (LOD=3.18). Multipoint analysis demonstrated suggestive evidence of linkage between BPAD and chromosomal regions 6q16-q21 (MLS=2.61) and 4q12-q21 (MLS=2.38). 6q16-q21 is of particular interest because our data, together with those from two recent genome scans, make this the best supported linkage region in BPAD. Further, our data show evidence of a gender effect at this locus with increased sharing predominantly within the male-male pairs. Our scan also provides support for linkage (MLS> or =1.5) at several other regions that have been implicated in meta-analyses of bipolar disorder and/or schizophrenia including 9p21, 10p14-p12 and 18q22.