Biomedical subjects
Publications and source records attributed to P Braude.
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The successful outcome of intracytoplasmic sperm injection (ICSI) with round-headed spermatozoa (globozoospermia) is reported. A couple with infertility secondary to globozoospermia received ICSI treatment. Fertilization, cleavage and pregnancy outcomes were recorded. This couple experienced 40, 10 and 42% fertilization rates after ICSI in their first, second and third cycles respectively. Pregnancy did not occur in the first or second cycle but was successfully achieved after the third ICSI cycle. It is concluded that current ICSI procedures may overcome the infertility associated with globozoospermia and result in normal healthy livebirth without assisted oocyte activation.
Incontinentia Pigmenti (Bloch-Sulzberger syndrome) is a rare multisystem, ectodermal disorder associated with dermatological, dental and ocular features, and in <10% of cases, severe neurological deficit. Pedigree review suggests X-linked dominance with lethality in affected males. Presentation in female carriers is variable. Following genetic counselling, a mildly affected female carrier diagnosed in infancy with a de novo mutation was referred for preimplantation sexing, unusually selecting for male gender, with an acceptance of either normality or early miscarriage in an affected male. Following standard in-vitro fertilization and embryo biopsy, fluorescence in situ hybridization (FISH) unambiguously identified two male and two female embryos. A single 8-cell, grade 4 male embryo was replaced. A positive pregnancy test was reported 2 weeks after embryo transfer, although ultrasonography failed to demonstrate a viable pregnancy. Post abortive fetal tissue karyotyping diagnosed a male fetus with trisomy 16. This is an unusual report of preimplantation genetic diagnosis (PGD) being used for selection of males in an X-linked autosomal dominant disorder and demonstrates the value of PGD where amniocentesis or chorion villus sampling followed by abortion is not acceptable to the patient. This case also demonstrates the importance of follow-up prenatal diagnosis.
Ovarian hyperstimulation syndrome (OHSS) in a renal transplant patient undergoing assisted conception treatment is reported. A couple with infertility secondary to tubal blockage and pelvic endometriosis received IVF treatment. Ovarian enlargement secondary to OHSS resulted in obstruction in the transplanted kidney and deterioration of renal function. No other systemic manifestations of OHSS were evident. Conservative management was successful and a twin live birth was later achieved by replacement of two frozen-thawed embryos.
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Eosinophilic ascites is rarely observed in clinical practice. It may be associated with the serosal type of eosinophilic gastroenteritis, abdominal lymphoma, hypereosinophilic syndrome, or peritoneal dialysis but is uncommonly related to parasitic infections. We report a case of a previously healthy young patient who developed diarrhea and exudative eosinophilic ascites. The final diagnosis was consistent with a parasitic infection due to Toxocara canis, while the clinical and radiological findings suggested an eosinophilic gastroenteritis. The diagnostic approach, especially parasitic serological data, which must be carefully interpreted, are discussed; in addition, the possible pathophysiological mechanisms involved in the production of ascites are evoked.
Puerperal ovarian vein thrombophlebitis (POVT) is a rare postpartal complication. Its incidence is about 0.05%. POVT can follow a term pregnancy, a premature delivery, an abortion or an ectopic pregnancy. POVT usually presents as a syndrome consisting in lower abdominal pain and fever which does not respond to adequate antibiotics. We present a case report, in which the diagnosis was based upon computed tomography.
OBJECTIVE: Androgenetic and gynogenetic embryos in the mouse have been shown to fail early in development, exhibiting many features that are similar to those seen in early pregnancy loss in humans. Because androgenetic or gynogenetic abortuses contain the genetic complement from a single paternal or maternal genome, we used locus-specific minisatellite probes to determine individual genetic relationships and parentage from samples of parental blood and abortus tissue, to investigate whether androgenesis and gynogenesis contribute to the cause of early pregnancy loss. STUDY DESIGN: We carried out prospective recruitment over 2 years of 145 patients admitted to a teaching hospital in Cambridge with ultrasonographic confirmation of early pregnancy failure. RESULTS: Blood and products of conception suitable for complete analysis were obtained from 75 cases. Twenty-seven (56%) of the 48 samples that could be karyotyped had normal chromosome complements, with trisomy 16 the most frequent aberration (5/21). Both paternal and maternal genomic contributions to the abortuses were found in all cases investigated, irrespective of the karyotypes of the tissue. Germline mutations were detected in six of 42 (7.1% per gamete) hybridizations with lambda MS1 and in one of 15 (3.3% per gamete) with p lambda g3, which is higher than the rate estimate for the general population. No inappropriate paternity was detected. CONCLUSION: Androgenesis and gynogenesis are unlikely to be causative in the cause of human early pregnancy loss, but germline mutations even in the presence of a normal karyotype could be influential.
The great morbidity and mortality associated with pseudoaneurysms complicating pancreatic pseudocysts stress the need for their early detection. The authors report the use of colour Doppler sonography in the detection of pseudoaneurysms within pancreatic pseudocysts, emphasizing not only the value of this modality in the initial diagnosis, but also its value in monitoring the success of transcatheter embolization. Colour Doppler should be used systematically in the evaluation of pancreatic pseudocysts.
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We have undertaken a comparative analysis of the contraceptive activity of antibodies directed against the porcine sperm receptor zona pellucida antigen (ZP3) and its Mr = 32,000 polypeptide core (DGZP-32). The strategies employed for this analysis included the induction of active immunity in a primate, the common marmoset, and an in vitro fertilization protocol involving the use of viable human ova. In both experimental situations, antibodies against ZP3 were shown to exhibit contraceptive activity, leading respectively to the induction of long-term infertility in the primate model and to the complete inhibition of human fertilization in vitro. The in vivo studies also revealed that the induction of high titer antibodies against ZP3 was inevitably associated with the appearance of an ovarian pathology characterized by the progressive depletion of the primordial follicle pool within one to two years. This side effect could not be alleviated by the use of DGZP-32 as antigen since the induction of immunity against this polypeptide was also associated with the eventual appearance of an ovarian pathology identical to that observed with ZP3. Furthermore, the DGZP-32 peptide was less effective than ZP3 in inducing the formation of antibodies capable of inhibiting the fertilization of human ova in vitro. We conclude that significant problems remain with the use of deglycosylated zona peptides for the development of contraceptive vaccines and that their potential will not be realized until the epitopes responsible for the induction of infertility and the primordial follicle depletion have been identified and segregated.
An unusual anterior sacral meningocele associated with Marfan's syndrome, with demonstrated dural anomalies related to Marfan's syndrome is reported. Endoscopy enabled complete exploration of the meningocele, its morphological description, and ultimate cure. The meningocele resembled an hourglass made up of intrasacral and anterior sacral components. The communication of this bilobed malformation with the dural sac was so small that only the intrathecal injection of a colored solution allowed its localization. The closure of this communication was accomplished under endoscopic view by a single stitch. The postoperative course of the patient was characterized by immediate disappearance of the preoperative clinical signs. Computed tomographic scans demonstrated progressive complete collapse of the anterior sacral meningocele and partial resolution of the intrasacral component. Dural anomalies of Marfan's syndrome are described, and their relationship to the formation of the meningocele is discussed.
The authors report the fortuitous demonstration of an asymptomatic gossypiboma during the preoperative staging of a rectal carcinoma 13 years after abdominal surgery for perforated gastric ulcer. Ultrasonography disclosed a well-defined hypoechoic mass containing highly echogenic foci with a strong posterior shadow. The CT findings are reported, as well as the complementary aspects of sonography. Differential diagnosis from tumors of the lesser omentum is also presented.
OBJECTIVE: To develop a systematic study of the parthenogenetic activation and early development of human oocytes. DESIGN: Human oocytes (both freshly retrieved and remaining unfertilized after exposure to spermatozoa) were exposed to alcohol or calcium ionophore and examined for evidence of activation. SETTING: Academic research department of a teaching hospital. PATIENTS, PARTICIPANTS: Couples donating oocytes were undergoing therapy for infertility with in vitro fertilization or gamete intrafallopian transfer. INTERVENTIONS: Gonadotropin-releasing hormone agonist and human menopausal gonadotropin were administered at therapeutic doses. MAIN OUTCOME MEASURES: After application of activation stimuli at varying doses and durations, oocytes were examined for evidence of meiotic reactivation, pronuclear formation, deoxyribonucleic acid content, and cleavage. RESULTS: Fresh and aged human oocytes can be activated parthenogenetically using a calcium ionophore but at lower rates than seen for mouse oocytes (typically 50% to 60% versus 90% to 100%, respectively). Ethanol was a poor activating agent (maximum activation rate 16%). Human parthenotes can complete division to the eight cell stage. CONCLUSIONS: These results indicate that parthenote embryos may provide a source of material to study changes that occur during early human development. The data also raise the possibility that some early human pregnancy losses may involve oocytes that have been parthenogenetically activated spontaneously.
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The authors report a new method of diagnosing hyaline membrane disease (HMD) in newborns: ultrasound. Babies with HMD display a specific pattern with retrohepatic hyperechogenicity on abdominal ultrasound. The specificity of the pattern was verified in 40 prematures with respiratory distress syndrome. The sign was present in 24, and in 22 of these the final diagnosis was moderate or marked HMD. In the last 2, mild HMD was suggested. The pattern was absent in the 16 others, none of whom had HMD. The pattern probably results from an ultrasound artifact: summation of multiple aerated airways surrounded by collapsed alveoli. Follow-up examinations were possible in 13 babies with HMD. Hyperechogenicity disappeared in 8 of these patients within 6-9 days and in 3 within 10-20 days; it persisted for 60 and 70 days in 2 with bronchopulmonary dysplasia. In conclusion, retrohepatic hyperechogenicity in newborns is pathognomonic for HMD and allows an instant diagnosis. The persistence of the pattern could be a useful criterion for evaluation of the prognosis.