Trisomy 18 with Ectopia Cordis, Omphalocele, and Ventricular Septal Defect: Case Report

A case of thoracoabdominal ectopia cordis was diagnosed by ultrasonography at 21 week's gestation. Chromosomal analysis showed full trisomy 18. This case supports the associationl of thoracoabdominal ectopia cordis (Cantrell's pentad) with chromosomal errors, specifically trisomy 18.     

A phase I/II study of high-dose cyclophosphamide,cisplatin, and thioTEPA followed by autologous bone marrow and granulocyte colony-stimulating factor-primed peripheral-blood progenitor cells in patients with advanced malignancies

 The purpose of the present study was to determine the maximally tolerated dose of thioTEPA given with fixed high-dose cyclophosphamide (CPA) and cisplatin (cDDP) followed by autologous bone marrow (ABM) with or without granulocyte colonystimulating factor (G-CSF)-primed peripheral-blood progenitor cells (PBPCs) in patients with advanced malignancies. Patients were required to have histologically documented malignancies and adequate renal, hepatic, pulmonary, and cardiac function. CPA was given at 1,875 mg/m² per day as a 1-h i.v. infusion for 3 consecutive days, and cDDP was given at 55 mg/m² per day as a 24-h continuous i.v. infusion over 3 days concurrently with CPA. ThioTEPA was given once as a 1-h i.v. infusion (300–900 mg/m²) either following (the first 13 patients) or prior to CPA and cDDP. In all, 31 patients received PBPCs. A total of 46 patients were treated. There were 6 deaths among the 15 patients who did not receive PBPCs (13 received thioTEPA following CPA and cDDP). Among the other 31 patients who received PBPCs (all of whom also received thioTEPA prior to CPA and cDDP), there were 4 deaths, all involving patients with refractory ovarian carcinoma. The main toxicities were mucositis, esophagitis, hepatotoxicity, and nephrotoxicity. The median time required to achieve an absolute neutrophil count of 500 μl was 10 days (range, 9–12 days) for those who received PBPCs and 15 days (range, 15–34 days) for those who did not receive PBPCs. Altogether, 47% of the major organ toxicities (grades 3 and 4 renal, hepatic, and cardiac toxicities) occurred among the 15 patients who did not receive PBPCs, although these patients received thioTEPA at the lowest 2 dose levels. There were 3 complete responses and 22 partial responses among 35 evaluable patients (overall response rate, 71%), with the median duration of response being 3.5 months (range, 2–17 months). The maximally tolerated dose of thioTEPA was 600 mg/m² given as a 1-h i.v. infusion on the day prior to CPA and cDDP administration. The combination of high-dose CPA, cDDP, and thioTEPA is a well-tolerated regimen when thioTEPA is given prior to CPA and cDDP and when the combination also includes PBPCs in addition to ABM. This regimen is active in a variety of malignancies. Received: 15 February 1995/Accepted: 22 May 1995     

Immunoscintigraphy of ovarian endometriosis. A preliminary study

CA-125 is a membrane antigen detected in the serum of some women with gynaecological disease including endometriosis. We attempted to use a radioiodinated anti-CA-125 monoclonal antibody, OC-125, to image ovarian endometriosis using immunoscintigraphy. Two women with significant endometriosis and normal serum CA-125 levels had positive immunoscintigraphy. In one woman, all areas of endometriosis were imaged; in the other, endometriosis in one affected ovary was seen, but uptake in the other ovary was less than the extent of the disease.     

Laparoscopic intracorporeal ultrasound versus fluoroscopic intraoperative cholangiography

BACKGROUND: The purpose of this study was to compare the results of laparoscopic intracorporeal ultrasound (LICU) to those of fluoroscopic intraoperative cholangiography (FIOC) during laparoscopic cholecystectomy (LC) after the initial learning curve for LICU. METHODS: Data were prospectively collected on patients undergoing LC. A consecutive series of 394 LICU patients was compared to a consecutive series of 400 FIOC patients when each imaging procedure was preferentially performed. Patients during the transition period, including the first 100 LICU patients, were excluded. RESULTS: Demographics and preoperative diagnoses were similar in the two groups. Excluding those who were converted to open cholecystectomy and those in whom an imaging exam was not attempted, FIOC was successful in 361 of 374 (97%) patients and LICU was successful in 377 of 380 (99%) patients (p < 0.03). The mean times (+/-SEM) to complete FIOC and LICU were 16.0 (+/-0.5) min and 5.1 (+/-0.1) min (p < 0.0001), respectively, Choledocholithiasis was detected in 25 patients (7%) undergoing FIOC and in 39 patients (10%) undergoing LICU (p = 0.1). During LICU the common bile duct was visualized in continuity from the cystic duct to ampulla in 90% of cases. The common bile duct could not be completely visualized in continuity at the middle or distal portion of the common bile duct in 5% and 6% of LICU cases, respectively. One LICU patient (0.3%) with an incompletely visualized duct had a suspected stone confirmed by postoperative endoscopic retrograde cholangiopancreaticography (ERCP). One patient with negative FIOC (0.3%) had a retained stone treated by postoperative ERCP. CONCLUSION: LICU is safe and accurate, and it permits a more rapid evaluation of bile duct stones than FIOC during laparoscopic cholecystectomy. The false-negative rate of both imaging techniques is less than 1%.     

Why women douche and why they may or may not stop

BACKGROUND: Although douching is common, it is a potentially harmful habit. GOAL: We studied attitudes and knowledge around the behavior of douching. STUDY DESIGN: Of 1,200 women enrolled in this multisite study, 532 douched and answered questions on a structured interview regarding douching behaviors. RESULTS: Over half had douched for 5 or more years. Douching was most often initiated on the recommendation of female relatives and practiced for reasons of hygiene. Half of women considered douching to be healthy. Those who considered douching to be unhealthy reported that douching may disrupt vaginal flora but did not cite more serious risks. Nonetheless, women who had been advised by a health professional to stop douching were less likely to consider douching healthful and were more likely to have tried to stop. CONCLUSION: Women had a limited understanding of potential adverse health consequences associated with douching. Targeted health messages may influence women to initiate douching cessation.     

Donor cell replacement in mice transplanted in utero is limited by immune-independent mechanisms

In utero transplantation (IUTx) therapy with allogeneic cells results in negligible peripheral blood (PBL) chimerism in nonablated humans with progressive diseases. IUTx has been successful only in immunocompromised fetuses. Because early treatment has great potential for halting disease progression, mechanisms preventing cell expansion must be identified and corrected. The hypothesis that factors in addition to allogenicity are responsible for low-level expansion is tested here by transplanting congenic cells into nonablated normal and mucopolycaccharidosis type VII (MPSVII) murine fetuses. MPSVII mice lack the enzyme beta-glucuronidase (GUSB-), accumulate glycosaminoglycans, and progressively develop severe storage disease. Low levels of enzyme can reverse storage. Evidence presented elsewhere showed that allogeneic donor cells overexpressing GUSB are negligible and their corrective effects are lost post-IUTx in MPSVII mice. We find that (1) congenic donor PBL cells, like allogeneic cells, are negligible in PBL of normal GUSB+ and MPSVII GUSB- hosts post-IUTx; (2) congenic, unlike allogeneic cells, are retained long term in both GUSB+ and GUSB- recipients; and (3) sufficient GUSB is produced to alleviate storage for up to 11.5 months in multiple tissues of GUSB- hosts. GUSB+ and GUSB- animals repopulate to a similar extent, indicating that donor GUSB enzyme does not initiate an immune response in the MPSVII null recipients. We conclude that the initial expansion of congenic and allogeneic cells is limited post-IUTx by non-immune-related mechanisms and the level of PBL cells is not necessarily indicative of graft failure following congenic IUTx. The mechanism limiting initial expansion may differ from that supporting long-term cell retention.     

The effect of robotic assistance on learning curves for basic laparoscopic skills

BACKGROUND: We hypothesized that laparoscopic tasks performed with ZEUS robotic assistance would be done with greater precision and with a different learning curve than when performed in a standard laparoscopic trainer. METHODS: Participants were divided into the surgically experienced (n = 11) and the surgically naive (n = 17). Two laparoscopic tasks (bead transfer and rope pass) were repeated for five repetitions. RESULTS: For all drills and participants, completion time and error rate decreased across the five repetitions for each platform. Precision averaged 97% for both platforms over all drills. For both groups, completion time for tasks was shorter on the laparoscopic platform. ZEUS allowed for greater consistency in performance. CONCLUSIONS: Compared with performance on a standard laparoscopic trainer, robotic assistance allows for increasing speed and consistency while maintaining precision over multiple repetitions. Understanding how robotics affects learning curves will allow for modifications in the training experience with this new technology.     

Torsion of a hernia sac invaginating into the tunica vaginalis and resembling testicular torsion

A 12-year-old boy was operated upon for torsion of a hernia sac invaginating into the tunica vaginalis. His clinical presentation resembled that of testicular torsion. Correspondence to: K. Kimura     

Senile chorea treated by deep brain stimulation: a clinical, neurophysiological and functional imaging study.

We report on a patient with senile chorea, treated with deep brain stimulation of the left globus pallidus internus and subsequently the left ventralis oralis posterior nucleus of the thalamus. Deep brain field potential recordings and functional imaging using single photon emission tomography enabled us to suggest pathophysiological mechanisms for the symptoms.     

Elderly Patients with Suppressed Serum TSH but Normal Free Thyroid Hormone Levels Usually Have Mild Thyroid Overactivity and are at Increased Risk of Developing Overt Hyperthyroidism

The clinical and biochemical characteristics of 15 elderly patientswith low levels of thyrotrophin (TSH) (<0.1 mU/L) but normalfree tri-iodothyronine, (T3) and free thyroxine (T4) (groupS) were compared with 10 euthyroid subjects (group E) and 10hyperthyroid patients (group T). Free T3 and free T4 were significantlyhigher (p<0.05) in group S(6.3±0.5 and 18.6±1.0pmol/l, respectively) than in group E(4.6±0.3, 12.6+0.6).In common with elderly hyperthyroid patients (group T)patientsin group S had few signs or symptoms of thyrotoxocosis, butthe Wayne score (clinical index of hyperthyroidism) was higherin group S than in euthyroid subjects (p<0.05). Thyroid microsomal,thyrogolobulin or thyrotrophin receptor antibodies were commonin group T (n=9)but not in groups S(n=2) or E(n=1). This suggestsa low prevalence of Graves' disease in group S compared to groupT. Combined thyrotrophin releasing hormone (TRH; 200 µgi.v.) and gonadotrophin releasing hormone GnRH; 100 µgi.v.) tests were performed; no cases of low TSH due to hypopituitarismwere identified in group S. During a mean of 7.9 (4–12)months of observation TSH reverted to the normal range (>0.2mU/L)in 7 of 15 patients in group S; thyroid hormone concentrationsrose above the normal range in four, however, only two patientsrequired treatment for hyperthyroidism. It is unlikely thatthe suppressed TSH of patients in group S was due to mild thyroidhormone excess; although this is often a transitory phenomenon,these patients are at increased risk of developing overt hyperthyroidism.