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Background: Genetic diseases may display parent-of-origin effects. In such cases, the risk depends on the specific parent or origin allele. Imprinting effect is evident in autosomal dominant hereditary paraganglioma leads to tumors only if inherited from paternal germline. Cancer penetrance in mutations carriers may be determined by the parent origin of BRCA mutation. Methods: From 2007–2010 we analyzed 1889 consecutive (136 ovarian + 1753 breast) breast (BrCa) or ovarian cancer (OvCa) patients presenting for treatment at our outpatient facility. In 130 patients with BRCA 1 or 2 mutations the parent of origin for the mutation was known. Of the 130 patients 2 had both BRCA1 and BRCA2 mutated paternally inherited and were excluded from this analysis. Of the breast cancer patients: 28 patients had paternal and 29 had maternal BRCA1 mutations, 24 had paternal and 21 had maternal BRCA 2 mutations. Of the ovarian cancer patients 6 had paternal and 10 had maternal BRCA1 mutations, 7 had paternal and 3 had maternal BRCA2 mutations. In carriers of BRCA mutations the mean age at diagnosis for ovarian cancer was 51 (range 21–70) and for breast cancer was 43 (range 24–78). Two-sample t-test was used to compare the mean age at diagnosis in patients with BRCA 1 or 2 mutations of paternal or maternal inheritance. For breast cancer maternal allele versus paternal allele 2-sample t-test and p-value were compared for the age at first diagnosis. For breast cancer patients BRCA1 maternal inheritance (mean+SD yrs) 45.73+11.22 versus paternal inheritance 38.04+7.14 2-sample t-test p-value p Results: Significantly younger age at breast cancer diagnosis was observed in paternal vs. maternal inheritance of BRCA1 mutation (38 vs 46, respectively, p Conclusion: The restrospective nature of the study may introduce ascertainment bias. However, the breast and ovarian cancers cases in BRCA1 & 2 carriers with maternal or paternal inheritance mirror the Mendelian autosomal dominant pattern in our unselected consecutive cohort of patients. Maternal and paternal inherited BRCA alleles may not be exchangeable. Women with paternally inherited mutations in BRCA gene mutations develop breast cancer at younger age compared with women who inherit the gene mutations from their mothers. In this small sample, clear differences at age of cancer diagnosis are apparent in paternal inheritance of BRCA gene mutation. If this observation duplicates in larger cohorts results will have important implications for recommendation of surgical risk reduction in BRCA mutation carriers. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P2-13-02.

Objective: To determine the efficacy of activity-based therapies using arm ergometer or robotic or group occupational therapy for motor recovery of the paretic arm in patients with an acute stroke (≤4 weeks) admitted to an inpatient rehabilitation facility, and to obtain information to plan a large randomized controlled trial. Design: Prospective, randomized controlled study. Setting: Stroke unit in a rehabilitation hospital. Subjects: Thirty patients with an acute stroke (≤4 weeks) who had arm weakness (Medical Research Council grade 2 or less at the shoulder joint). Intervention: Occupational therapy (OT) group (control) (n = 10), arm ergometer (n = 10) or robotic (n = 10) therapy group. All patients received standard, inpatient, post-stroke rehabilitation training for 3 hours a day, plus 12 additional 40-minute sessions of the activity-based therapy. Main measures: The primary outcome measures were discharge scores in the Fugl-Meyer Assessment Scale for upper limb impairment, Motor Status Scale, total Functional Independence Measure (FIM) and FIM-motor and FIM-cognition subscores. Results: The three groups (OT group versus arm ergometer versus robotic) were comparable on clinical demographic measures except the robotic group was significantly older and there were more haemorrhagic stroke patients in the arm ergometer group. After adjusting for age, stroke type and outcome measures at baseline, a similar degree of improvement in the discharge scores was found in all of the primary outcome measures. Conclusion: This study suggests that activity-based therapies using an arm ergometer or robot when used over shortened training periods have the same effect as OT group therapy in decreasing impairment and improving disability in the paretic arm of severely affected stroke patients in the subacute phase.

The objective of the present work was to study the effects of storage time and temperature on the softening process of avocado fruits, by means of non-destructive ultrasonic measurements. The attenuation of the ultrasonic waves, transmitted through the fruit tissue changes as a result of the ripening and softening of the fruit during storage. Several batches of avocado fruits, each stored at a different temperature, were examined until their designated storage time was completed. The fruits were subjected to non-destructive ultrasonic tests as well as to destructive penetration measurements of the tissue firmness. Statistical analysis applied to the attenuation of ultrasonic signals of avocado fruits stored at several low temperatures yielded quite good linear fit curves. This suggests that for a given temperature, the ultrasonic method can be used as a non-destructive firmness monitoring technique during low-temperature storage.

Gastrectomy induces bone loss, suggesting that the stomach is important for calcium homeostasis. In this study we examined the effects of gastrectomy, with or without CaCl2 supplementation, on the structure of the calvaria of the rat.The calvaria were dissected out and transilluminated, and the calvaria thickness was measured before (micrometer) and after fixation and sectioning (microscopy). Sections of the skull were analysed planimetrically for bone tissue area, using computer-assisted image analysis.The time course of the gastrectomy-produced bone loss was studied. After 4 weeks the remaining bone represented about 70% of that in control rats, and after 8 weeks the value was 50%. The thickness of the calvaria was lower in gastrectomized rats than in sham-operated controls. Bone marrow and samples from liver and spleen were examined; no differences were found between experimental and control groups. Daily ingestion of 100 mg CaCl2.2H2O did not prevent the bone loss.It is unlikely that the gastrectomy-produced bone loss reflects calcium deficiency. The results rather support the view that the stomach is important for calcium homeostasis through another mechanism, perhaps involving a hypothetical gastric hormone.

Twenty-five patients (21-45 years old) treated for Hodgkin's disease with mantle radiotherapy but no chemotherapy underwent cardiac testing with myocardial scintigraphy during exercise, Echo-Doppler cardiography and CT-examination, 10-20 years after treatment. Four of twenty-six (15%) young patients had serious cardiac complications after mantle therapy, and reduced systolic and/or diastolic function; and minor valvular disturbances were often found. One 36-year-old female died of myocardial infarction 4 years after therapy, one 39-year-old male had two non-lethal infarctions after 14 years, one 36-year-old male with no symptoms had severe reversible ischemia and three proximal coronary artery stenoses, and one 32-year-old female with constrictive pericarditis had pericardeictomy 14 years after therapy. In 23/24 patients the pericardial thickness was normal and no pericardial effusion was found. 23/24 patients had normal working capacity, but myocardial scintigraphy was normal in only 9 patients. 11/25 patients had reduced systolic function and in 12/24 patients the diastolic function was reduced. 11/25 patients had abnormal valvular or subvalvular structures. Valvular stenosis was not found but aortic, mitral and tricuspidal regurgitations were found in 1/25, 9/25 and 22/25, respectively. In all but two cases the regurgitations were mild. We conclude that mediastinal irradiation must be considered a risk factor for cardiac disease. It may be advisable to reduce other risk factors in these patients.

Gallbladder (GB) abnormalities are rarely reported in children, but involvement of the GB has been demonstrated in various inflammatory disorders. Thirty-nine children hospitalized with hepatitis A virus infection were evaluated by ultrasound. Pseudosurgical gallbladder wall of 10 mm or more with striation was found in 10. Pathological echographic findings were found in the pancreas of three patients, one with frank pancreatitis. Ascitic fluid was noted in eight. Pediatricians and pediatric surgeons alike should be familiar with this gallbladder and pancreatic involvement, which might avoid unnecessary procedures or surgery.

9063 Background: The efficacy and safety of IVCF addition to parenteral anticoagulation (AC) in treating cancer patients with VTE remains controversial and no RCTs have been conducted in this population. We initiated this prospective RCT to determine if the addition of IVCF placement is advantageous in cancer patients. Methods: 64 patients with a DVT (86%) and/or PE (55%) were randomly assigned (1:1) to receive AC with fondaparinux sodium (FS) [5mg, 7.5mg or 10mg] with or without an IVCF. Endpoints included: rates of complications by treatment arm; recurrent or residual DVTs or PEs on days 14, 30, and 56; and survival rates. Results: 64 patients were randomized and 63 evaluated. Cancer types included: lung (25%); breast (18%), colon (14%), pancreas (14%), lymphoma (8%), ovarian (6%), and 15% with other cancers. ECOG performance status: 0 or 1 in 44%; 2 in 47%; and 3 in 9%. 8 patients (12.5%) had stable brain metastases. Findings included: no patient had a recurrent DVT; 2 (3%) patients had new PEs (one in...

9130 Background: Cancer patients have a significant risk of VTE. Recurrent VTE rates of 9-17% occur (Lee NEJM 2003) despite the use of therapeutic anticoagulation (AC). Low molecular weight heparin...

1510 Background: Genetic diseases may display parent-of-origin effects in which the risk of disease depends on the sex of the parent from whom the disease allele was inherited. Female carriers of t...

The ovarian hyperstimulation syndrome (OHSS) is one of the most serious complications associated with ovulation induction. Most cases are associated with the use of exogenously administered gonadotropins and, occasionally, clomiphene citrate. Spontaneous OHSS in singleton gestations is extremely infrequent, and only a few cases have been described (1). We discuss a case of severe OHSS resulting from a singleton gestation conceived after spontaneous ovulation. We examined the patient’s hCG/LH receptor gene for a possible mutation to further explain her exaggerated response to normal circulating hCG levels from a singleton pregnancy.

e17017 Background: Positron emission tomography (PET) scanning is widely used in staging of patients (pts.) with head and neck squamous cell cancers (HNSCC). However, the role of PET scan in pts. with early stage disease and clinically negative nodes remains controversial. The purpose of our study was to correlate preoperative PET scan findings in early stage disease with operative pathological findings of neck dissection. Methods: A retrospective review of medical records of all pts. treated at Long Island Jewish Medical Center with T1N0 HNSCC from 2002 to 2008 was undertaken. Institutional Review Board approval was obtained for this study. Eligibility criteria included: clinically staged T1N0, documented pre-operative PET scans and primary surgical management including a neck lymph node dissection as part of initial treatment. Data collected included age, gender, physical examination findings, PET scan results, operative pathology and modalities of treatment. Results: Sixty six pts with early stage T1N0 HNSCC were identified. Twelve of sixty six pts met eligibility criteria for this study. Median age was 61 years (range: 27 to 84 yrs), M:F ratio was 1:1. Primary sites of tumor were: tongue (n = 8) 67%; oral cavity (n = 3) 25%; larynx (n = 1) 8%. Preoperative PET scan was positive at primary sites in all pts (n = 12). Additionally, PET positivity was noted in regional lymph node sites in six of twelve pts. Operative pathology confirmed tumor presence in all primary sites. However, nodal involvement was not found in any pt. Median numbers of lymph nodes dissected were 25 (range:13–34). Based on these clinical data, the calculated statistical parameters for preoperative PET scan in detecting occult neck lymph node metastases were: negative predictive value: 100%; positive predictive value: 50%: specificity: 50%; sensitivity: 0%. Conclusions: The clinical application of PET scans in early stage (T1N0) HNSCC may be limited by its high false positive rate. A high negative predictive value suggests that a negative result can exclude metastatic lymph nodes involvement in this group of pts. with early stage disease. Correlation with SUV values of the PET scans and comparisons between the relative PET avidity of the primary tumors and the nodal uptake are ongoing. No significant financial relationships to disclose.

20544 Background: Cancer-associated thrombosis is a major cause of death in patients (pts) with cancer. The 1-year survival in pts with cancer with VTE is 12% (vs. 36% without VTE). More than 20% o...

Over a period of 3 years in Southern Sweden 35 patients were seen with deep-seated limb sarcomas without metastases, 30 of whom were referred before any operation had been carried out. Thirty seven patients with deep-seated benign lesions were referred during the same period because of suspected malignancy. A preoperative diagnosis considered sufficient for a definitive operation was made from the clinical findings, aspiration cytology and radiographic examination, but without open biopsy, in 59 of these 67 cases. The differentiation between a benign and a malignant tumour was correct in all but one. The extent of excision necessary to achieve adequate margins for a soft-tissue sarcoma can often be reduced if open biopsy is avoided, with preservation of function. We conclude that treatment without open biopsy is possible in the great majority of patients with soft-tissue sarcoma.

We reviewed the clinical records and chest radiographs of all patients admitted to our institution between 1982 and 1984 who had pulmonary disease and who were later proved to have acquired immunodeficiency syndrome (AIDS) (95 patients). Diffuse parenchymal lung disease was the most common finding. These infiltrates were usually interstitial and caused by Pneumocystis carinii pneumonia or P. carinii combined with cytomegalovirus infection. Focal, multilobar, interstitial infiltrates were also often seen and usually caused by P. carinii or P. carinii and cytomegalovirus infections. Rarely, well-defined, multiple, interstitial nodules less than 10 mm in diameter were the only or predominant characteristic and were seen only in association with Mycobacterium tuberculosis or Cryptococcus neoformans infections or Kaposi sarcoma. Hilar or mediastinal adenopathy occurred in 17 of the 21 patients with M. tuberculosis or C. neoformans infections. In contrast, only 4% of patients with P. carinii infections presented with these findings. We also found that hilar or mediastinal adenopathy was not significantly associated with peripheral adenopathy. Lung cavitation, pleural effusion, or a normal chest radiograph was uncommon.

SUMMARY Intestinal enzyme activities (dipeptidases and disaccharidases) and mucosal morphology were studied in two groups of paediatric patients: one coeliac group (n=13) and one “suspected cow's milk intolerance” group (n= 5). The patients were studied before and after dietary treatment. 49 children and adults with histologically normal intestinal mucosa served as a control group. Both groups of patients showed a marked secondary decrease in the dipeptidase and the disaccharidase activities. The decrease was more pronounced for the disaccharidase than for the dipeptidase activities, and was reversible on dietary treatment. Among the disaccharidases, the lactase and trehalase activities were most strongly depressed; in the coeliac group, the ala-pro dipeptidase activity was more strongly affected than the other dipeptidases. However, as also the ala-pro dipeptidase activity increased on dietary treatment, this does not provide any clue to the specificity of a hypothetical enzyme whose absence could be responsible for the disease.

Fifty-one percutaneous fine-needle aspiration biopsies guided by selective angiography and 57 by percutaneous transhepatic cholangiography (PTC) were performed in 88 patients. Fifty-two of the patients had a tumor localized to the pancreas and 19 a tumor of the extrahepatic biliary tract. In 17 patients the suspicion of neoplasia was possible to rule out. In 60% of the patients with pancreatic carcinoma and in 53% of the patients with biliary duct carcinoma correct cytological diagnosis was obtained. No false positive results were found. The diagnostic reliability was the same under guidance of angiography as PTC. The experience of the examiner markedly influenced the accuracy of the method. Exact correlation between the cytologic and histologic reports was found in cases where representative material was obtained at the aspiration. None of the 108 punctions was followed by complications. Since the method is harmless and has a high success rate especially in experienced hands it is an important adjunct to the management of pancreatic and bile duct lesions.

Angiography was performed in ten cases of myeloma (plasmacytoma), of which nine were solitary on admission. All lesions were hypervascular bone tumors with extension of neoplastic growth into adjacent soft tissue. Contrast uptake of the tumors occurred regularly and usually was non-homogeneous. In nearly all cases irregular tumor vessels and early venous drainage was evident with arteriovenous shunting in three. Pathologic-anatomic correlation demonstrated 'tumor vessels' to be newly formed vascular spaces lacking the normal constituents of vessel walls. The contrast uptake presumably was caused by passage of contrast into the newly formed, slit-like capillary vascular spaces. Angiography usually permitted separation of myeloma from benign, hypervascular bone lesions. The procedure proved to be of particular value in indicating definite malignancy, since myeloma was considered initially as the probable diagnosis in only one of the series. It was not possible, however, to differentiate myeloma from other malignant tumors by plain radiography or angiography. Irreversible renal failure occurred in one patient after angiography.

At preoperative scintigraphy of 83 consecutive histopathologically confirmed thyroid carcinomas a solitary reduced uptake was observed in 70 per cent. The minimum detectable size was 10 mm for differential carcinomas showing this image, but in the 'screening group' of hereditary medullary carcinoma several scintigrams were considered normal despite a tumour size of 10 to 15 mm. In the imaging of the undifferentiated carcinoma a solitary reduced uptake with disappearance of the entire affected lobe was often demonstrated. Multifocal areas in the dot scintigram representing tumours were often missed at fine needle aspiration biopsy. Computer-processed scintigrams were superior in showing multifocal lesions.

This paper shows how a well planned computer system can transform a practice's programme of prevention and surveillance, for long the Cinderella subjects in our Health Service. It was not necessary to employ specially trained staff to operate the computer and our receptionists adapted quickly and successfully: in fact, a new and interesting job coordinating the new routines has evolved which will include the preparation and presentation of a wide range of practice statistics. After initial hostility the computer has been accepted by the staff and its ability to increase the efficiency of the practice at all levels is now well recognised. Attention to the manual records, including updating summary sheets, was a vital part of our transition, and satisfactory office routines for recording all information daily is as essential. Since the computer was introduced the accuracy of our filing has improved dramatically. Rates of uptake for all immunisations and cervical cytology examinations are much better and the surveillance of various groups, whether by health visitors, nurses, or doctors, is no longer haphazard. The costs are within the scope of any practice, but positive encouragement by government (probably financial) would make acceptance of computers more likely. This would certainly encourage practitioners to take the initiative in prevention and surveillance, thereby ensuring that general practice remains the focus of a patient's overall care in the next decades.

Undifferentiated giant and spindle cell carcinoma of the thyroid is a rapidly fatal disease. Most patients die from local tumour progression and with distant metastases. A combination of debulking surgery, irradiation and combination chemotherapy is reported. An improvement of the local results of treatment was observed. A combination of irradiation and chemotherapy resulted in local control in only one of 8 patients. Therefore, debulking surgery was added in the next 5 patients and a local control was achieved in 4.

Tumour cells may be dispersed into the wound when diagnostic or excisional biopsy is undertaken. This risk is reduced by using fine needle aspiration biopsy. The definitive excision of a soft tissue sarcoma may then be carried out in a more limited manner. In selected cases diagnostic and definitive operation may be combined, accepting the risk of excision of a benign lesion with unnecessarily broad margins. Aspiration cytology could possibly help the surgeon to decide on the extent of the excision. One hundred and nine consecutive patients with soft tissue lesions were referred to the Orthopaedic Oncology Group at Lund in Southern Sweden because of suspected malignancy. Biopsy had not been carried out. Further diagnostic and therapeutic procedures were planned as if aspiration cytology was not going to be used. The procedure was then performed with a fine needle and the cytodiagnosis was used to modify the plan. Sixty-seven tumours were examined histologically. Ten were sarcomas, two metastatic carcinomas and one a malignant lymphoma. The surgical plan was changed after the cytology was known in 33 of the 109 cases. Compartmental or wide excisions which had been planned became unnecessary in 20 patients. No operation was done in 6 patients and in 14 others a more limited excision was carried out. It was possible to avoid planned incisional biopsy in 3 patients with sarcoma.

A simplified technique is described for the determination of absolute uptake of stable iodine 127I by the thyroid. The technique has been compared with 2 classic methods in 114 subjects in most of whom the radioactive uptake did not agree with the clinical findings (hyperthyroidism cured by 131I, simple goiter, patients saturated with stable iodine). The technique is based on the existence of a log-log relationship between the early radioactive iodine uptake and the thyroid clearance and on the relative constancy of renal iodine excretion rate constant. The validity of these relationships is discussed with regard to the experimental results obtained. The proposed method only necessitates the measurement of radioactive uptake at 2½ hr and the quantity of stable iodide excreted in the urine between 0 and 2½ hr. The difference between the results obtained using the simplified method and those obtained using the classic methods based on the equality of specific activities is negligible in all groups ...