A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy

Objective Case report of a rare combination of a trisomy 18 and 21 in a dizygotic twin pregnancy in a woman with a history of recurrent miscarriage, a neonatal death, no living offspring and Graves disease. Methods Case report and literature search. Results Only one other report in the literature of a combined trisomy 18 and 21 twin pregnancy was found. Conclusion The combination of a trisomy 18 and 21 in a dizygotic twin pregnancy is very rare. Despite the high frequency and clinical importance of aneuploidy, very little is known about the factors that may modulate meiotic non-disjunction.     

Association of Oxidative Stress Biomarkers and Antioxidant Enzymatic Activity in Male Infertility of North-East India

Introduction

Oxidative stress is a common pathology seen in approximately half of all infertile men. In a normal situation, the seminal plasma contains antioxidant mechanisms which are likely to quench these reactive oxygen species. However, during infertility complications these antioxidant mechanisms may downplay and create a situation which is called oxidative stress.

Objective

The aim of the present study was to assess the levels of lipid peroxide (LPO), protein peroxide (PPO) and activities of antioxidant enzymes superoxide dismutase (SOD), glutathione peroxidase (GPX) in blood and semen samples of an infertile male population from North-East India.

Method

We measured LPO, PPO, SOD and GPX in a total of 50 infertile individuals. For the study 20 fertile donors served as the control group.

Result

Patients with male factor infertility had significantly higher LPO and PPO levels (60.84 ± 3.55 and 72.84 ± 3.66; P < 0.001) compared with controls (40.20 ± 4.33 and 59.93 ± 5.24) in blood. In semen also, the same trend was found with significantly higher LPO and PPO levels (200.27 ± 6.25 and 149.80 ± 11.47; P < 0.001) compared with controls (116.51 ± 5.49 and 59.10 ± 4.62). The SOD and GPX enzymes in blood (3.40 ± 1.06 and 0.16 ± 0.01; P < 0.001) and in semen (2.42 ± 1.32 and 0.24 ± 0.015; P < 0.001) showed a significantly lower activity when compared with their respective controls (4.85 ± 0.78; 0.36 ± 0.05 and 4.24 ± 0.89; 0.65 ± 0.03). The SOD and GPX activity when compared with the LPO and PPO values, showed a positive correlation.

Conclusion

We conclude that oxidative stress is associated with male factor infertility. This assessment may help in the treatment of this male infertility by suitable antioxidants.     

A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation.

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for a fetus with multiple congenital anomalies but a normal male karyotype using conventional G-banding analysis on a mid-trimester placental biopsy. In a subsequent pregnancy, a diaphragmatic hernia and intra-uterine growth restriction were detected at 34 weeks' gestation and a fetal blood sample showed a normal female karotype. However, her child was born with dysmorphic features and additional severe abnormalities including microcephaly, anophthalmos and left fixed talipes. The child has shown marked developmental delay. In view of a strong family history of congenital abnormalities and recurrent miscarriage suggestive of a familial translocation, a fluorescent in situ hybridization technique using specific telomeric probes was performed on blood from the affected child and her parents. An unbalanced subtelomeric translocation was detected involving the long arms of chromosomes 2 and 7 in the child and a balanced translocation was detected in her father. Accurate genetic counselling and the opportunity for early prenatal diagnosis can now be offered to this family.     

An unusual anatomic variation of a unicornuate uterus with normal external uterine morphology

OBJECTIVE: To describe a case of a unicornuate uterus with a normal external uterine morphology. DESIGN: Case report. SETTING: University-based fertility center. PATIENT(S): A 30-year-old nulligravid woman with a 1-year history of infertility found to have a right proximal tubal occlusion on hysterosalpingogram. INTERVENTION(S): Laparoscopy, hysteroscopy, and magnetic resonance imaging. MAIN OUTCOME MEASURE(S): External and internal morphology of the uterus. RESULT(S): Laparoscopy showed a normal external uterine morphology and normal fallopian tubes and ovaries, but chromopertubation failed to demonstrate a fill and spill from the right fallopian tube. Hysteroscopy showed a single tubular uterine cavity projecting to the left with a single left tubal ostium, consistent with a unicornuate uterus. Magnetic resonance imaging confirmed a normal external uterine fundal contour and an internal uterine morphology consistent with a unicornuate uterus. CONCLUSION(S): This is the first reported case of a unicornuate uterus presenting with a normal external uterine morphology and an internal morphology consistent with a unicornuate uterus, and we propose inclusion of this anomaly in the classification of mullerian anomalies.     

Normal pregnancy is characterized by systemic activation of the complement system.

BACKGROUND: The complement system, a major component of innate immunity, has recently been implicated in the mechanisms of fetal loss and placental inflammation in the anti-phospholipid antibody syndrome. Inhibition of complement has been proposed as an absolute requirement for normal pregnancy. Yet, pregnancy is characterized by a generalized activation of the innate immune system. This study was conducted to determine whether or not normal pregnancy is associated with complement activation in the maternal circulation. METHODS: Anaphylatoxins (C3a, C4a and C5a) were determined in the plasma of normal pregnant (20-42 wks; n=134) and non-pregnant women (n=40). These complement split products (C3a, C4a and C5a) were measured using specific immunoassays. Non-parametric statistics were used for analysis. RESULTS: 1) The median plasma concentrations of C3a, C4a and C5a were significantly higher in normal pregnant women than in non-pregnant women (all p<0.001); 2) the concentration of C3a, C4a and C5a did not change with gestational age (p>0.05); and 3) the median plasma concentration of C3a had a positive correlation with the plasma C4a and C5a concentrations (r=0.36, p<0.001 and r=0.35, p<0.001, respectively). CONCLUSION: 1) Normal human pregnancy is associated with evidence of complement activation, as determined by higher concentrations of the anaphylatoxins C3a, C4a and C5a in the maternal circulation; and 2) we propose that physiologic activation of the complement system during pregnancy is a compensatory mechanism aimed at protecting the host against infection.     

Leiomyoma of the uterus and retroperitoneal angioleiomyoma: case report

Retroperitoneal angioleiomyoma is a benign mesenchymal neoplasm that is composed of smooth muscle cells and thick-walled vessels. In a 36-year-old patient a retrouterine and retroperitoneal tumor, 70 x 65 x 50 mm in size, was discovered during a surgical procedure due to uterine myoma. The tumor had a soft consistency and was completely removed. Histopathology showed features of angioleiomyoma. Angioleiomyoma is a rare benign entity; hence a benign course and good prognosis are expected.     

Role of previous ectopic pregnancy in altering the presentation of suspected ectopic pregnancy

OBJECTIVE: To evaluate the differences in the presentations of women with and without a prior history of an ectopic pregnancy and a suspicion of a current ectopic. STUDY DESIGN: Evaluation of a cohort of patients presenting to an emergency department to exclude an ectopic pregnancy. Over a 58-month study period (January 1992-October 1996), 1,510 consecutive, pregnant women presenting to an emergency department with pelvic pain and/or vaginal bleeding to exclude an ectopic pregnancy were evaluated. A comparison was made of the presenting signs and symptoms between patients with and without a previous history of an ectopic pregnancy. RESULTS: Of patients presenting to exclude an ectopic pregnancy, 105 had a history of an ectopic pregnancy, and 1,355 had no such history. Fifty patients were excluded because they were lost to follow-up or transferred their care to another hospital. Those with a history of an ectopic pregnancy were more likely to be diagnosed again with an ectopic pregnancy, were older and were more likely to have a history of pelvic inflammatory disease and abdominal surgery. Patients with a history of an ectopic pregnancy presented earlier with a lower hCG level. CONCLUSION: Women with a previous history of an ectopic present in a clinically different manner than do those without such a history.     

Laparoscopic Davydov Correction of a Failed Gracilis Flap Neovagina in a Patient With Mayer-Rokitansky-Kuster-Hauser Syndrome With a Pelvic Kidney

The laparoscopic Davydov procedure is a surgical technique for creation of a neovagina in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or vaginal agenesis. Herein we report its use in creating a neovagina after failure of a previous surgical attempt in a patient with a pelvic kidney, which has not been described to date. The patient, a 28-year-old woman with MRKH in whom creation of a neovagina using bilateral gracilis flaps had been attempted, was unable to have intercourse because of a shortened and scarred vagina. We successfully used the laparoscopic Davydov procedure to create a functional neovagina despite the previous surgery and the presence of a pelvic kidney. The Davydov procedure is an option for use in patients with MRKH with history of unsuccessful neovaginal surgery and can be performed in the presence of a pelvic kidney.     

Neonatal intussusception due to a cecal duplication cyst.

Intussusception in the first month of life is rare; however, it should be considered a distinct clinical and pathologic entity. Cecal duplication as the cause of intussusception in a neonate is extremely rare. We report a case of a newborn with ileocecocolic intussusception. She presented with vomiting and bloody stools. Abdominal sonography revealed a target lesion with a cystic component. We performed a laparotomy and found an ileocecocolic-type intussusception which was caused by a cecal duplication cyst. Right hemicolectomy with ileocolostomy was performed. She remained well at one year follow-up.     

Unilateral chronic tuboovarian abscess secondary to ruptured colonic diverticulum presenting as a brain abscess. A case report

BACKGROUND: Tuboovarian abscesses (TOAs) are a somewhat unusual finding in postmenopausal patients without risk factors. We present a rare case of unilateral TOA initially presenting as a brain abscess in a postmenopausal woman. CASE: A 61-year-old woman presented with a complaint of forgetfulness, nausea and vomiting, with lower abdominal pain and diarrhea. She was found to have a brain abscess, which was treated by craniotomy, with drainage of the abscess, and intravenous antibiotics. The patient was subsequently found to have a pelvic mass, which, on laparotomy, was a unilateral TOA. Pathology demonstrated that the abscess contained vegetable matter consistent with origin in a ruptured diverticulum. CONCLUSION: Diagnosis of a brain abscess should prompt a thorough investigation for a primary infectious source, including the gastrointestinal and genitourinary tracts.     

Twin pregnancy (intrauterine and cervical) after hemihysterectomy: case reports

This case report describes a twin pregnancy in a hemihysterectomized patient who had a pyhemocervix present in 1/2 of a double uterus. An ultrasonic scan of this 29-year-old patient presenting with a history of 12 weeks amenorrhea revealed a retroverted uterus which contained a single fetus and a placenta situated on the anterior uterine wall. 1 week later, she was admitted with painless vaginal bleeding, and 6 days later aborted a complete gestational sac which contained a female fetus. 2 days later a large cystic mass, the size of a 3-month pregnancy, was incised and found to house an ectopic pregnancy. This is believed to be the 1st report of a combined intrauterine and cervical pregnancy following a hemihysterectomy.     

Intraperitoneal ropivacaine and a gas drain: effects on postoperative pain in laparoscopic surgery

STUDY OBJECTIVE: To assess the benefits of the combination of a gas drain and the instillation of local anesthetic on the incidence of pain after operative gynecologic laparoscopy. DESIGN: Randomized control trial (Canadian Task Force classification I). SETTING: Tertiary referral center. PATIENTS: One hundred twenty-eight patients undergoing operative gynecologic laparoscopy procedures lasting less than 105 minutes. INTERVENTIONS: Postoperatively, one group received a blocked drain and saline placed intraperitoneally; a second group was given a blocked drain and ropivacaine; a third group received a patent drain and saline; and a fourth was given a patent drain and ropivacaine. MEASUREMENTS AND MAIN RESULTS: Visual analogue pain scores (VAS) were measured at 1, 2, 4, and 12 hours and day 1 to day 7. Also measured was opioid consumption at 4 hours, nausea, and activity scores. We found a statistically significant improvement in pain scores at 2 and 4 hours in the group allocated to receive a patent drain and ropivacaine. CONCLUSION: We recommend the use of a gas drain and ropivacaine to reduce postoperative pain.     

Ovarian remnant syndrome at the port site

Ovarian remnant syndrome is a rare gynecologic complication, mostly induced by difficult salpingo-oophorectomy with the residual ovarian tissue on the pelvic side wall. This is a report of a rare case of ovarian remnant syndrome at a port site after laparoscopic oophorectomy and a review of the related literature. A 22-year-old virgin had a laparoscopic oophorectomy for an endometrioma 5 years earlier. Postoperatively, she visited gynecologic clinics for a frequent painful sensation at the left port site. After sonographic examination and under the impression of a recurrent endometrioma, laparotomy and cyst excision were performed. Surprisingly, ectopic ovary was diagnosed by the pathologist. Review of the literature revealed ovarian remnant implantation at a port site as a very rare type of ovarian remnant syndrome. During laparoscopic oophorectomy in a woman without sexual exposure who is not a good candidate for culdotomy, the removal of the excised ovary through the port site is sometimes difficult and residual ovarian tissue implantation may occur. There are many methods to reduce the risk of port-site seeding, which we must keep in mind and execute to prevent such a complication.     

Lp(a) lipoprotein: relationship to cardiovascular disease risk factors, exercise, and estrogen.

OBJECTIVE: Lp(a) lipoprotein is a distinct lipoprotein particle that recently has been found to be associated with cardiovascular disease. A study was conducted to assess the influence of cardiovascular disease risk factors on levels of Lp(a) and to evaluate the effects of age, exercise, and estrogen on these levels. STUDY DESIGN: Two studies, a cross-sectional study of older men (n = 105) and women (n = 75) (mean age 76 years) and a prospective study of younger postmenopausal women (mean age 48 years), were carried out. Lp(a) and other lipoproteins were measured in the two studies and differences were sought by statistical analysis. RESULTS: In the cross-sectional study, serum Lp(a) was similar in men and women and was not influenced by age. Lp(a) levels in men and women were higher when there was more than one cardiovascular disease risk factor present (p less than 0.028). We could not demonstrate such a relationship with other lipid and lipoprotein measurements. In the prospective study exercise alone had no influence on Lp(a) levels. Oral estrogen decreased Lp(a) levels marginally (p = 0.08). The decrease in Lp(a) with oral estrogen was associated with increases in triglycerides (p less than 0.01) and very-low-density lipoprotein (p less than 0.06). CONCLUSIONS: These data confirm that elevated Lp(a) levels are an independent risk factor for cardiovascular disease. Lp(a) levels are primarily influenced by genetic factors and it appears estrogen may have a minor influence on its hepatic synthesis.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage.     

Prolonged delivery-abortion interval in twin and triplet pregnancies. A report of two cases

Two cases occurred of a delayed interval between the second-trimester delivery and abortion of a nonviable fetus from a multifetal gestation with a surviving fetus or fetuses. In twin pregnancy, there was a 23-day interval between the delivery of twin A (at 21 weeks) and of twin B (at 24 weeks). In a clomiphene-induced triplet pregnancy there was a 74-day interval between the spontaneous abortion of triplet A at 17 weeks and of triplets B and C at 27 weeks. This is the second reported case of two surviving infants after a delayed abortion-delivery interval in a triplet pregnancy in a single uterus.     

Bilateral hematosalpinx in a case of ectopic pregnancy: a clinical dilemma

A 31-year-old woman with a positive pregnancy test and a transvaginal ultrasound scan result that was suggestive of a right tubal ectopic pregnancy underwent a laparoscopy, which showed bilateral hematosalpinx. In the presence of active bleeding and deteriorating hemodynamic status of the patient, a minilaparotomy was performed that revealed a right-sided hematosalpinx and a left-sided ectopic gestation.     

The non-communicating rudimentary horn: diagnostic and therapeutic challenges

We describe the case of a 23-year-old nulligravid woman who complained of increasing post-menstrual lower abdominal pain. She used contraceptives permanently for three months and was referred with a sub-mucosal lesion suspicious for a type 2 fibroid to be resected. During hysteroscopy, no fibroid mass could be confirmed. A post-operatively performed ultrasound including hydrosonography demonstrated a lesion highly suspicious for a uterus unicollis with a non-communicating uterine horn and a haematometra. Laparoscopy confirmed a normal outer lining of the uterus with hypoplastic tube on the right side. Referring to pre-operative findings, a broadly based uterine horn including a large haematometra was diagnosed. We performed a laparoscopic resection of the rudimentary horn and a right salpingectomy. The patient could be discharged without any complications three days later.     

Normal pregnancy is characterized by systemic activation of the complement system

Background.?The complement system, a major component of innate immunity, has recently been implicated in the mechanisms of fetal loss and placental inflammation in the anti-phospholipid antibody syndrome. Inhibition of complement has been proposed as an absolute requirement for normal pregnancy. Yet, pregnancy is characterized by a generalized activation of the innate immune system. This study was conducted to determine whether or not normal pregnancy is associated with complement activation in the maternal circulation.

Methods.?Anaphylatoxins (C3a, C4a and C5a) were determined in the plasma of normal pregnant (20–42 wks; n?=?134) and non-pregnant women (n?=?40). These complement split products (C3a, C4a and C5a) were measured using specific immunoassays. Non-parametric statistics were used for analysis.

Results.?1) The median plasma concentrations of C3a, C4a and C5a were significantly higher in normal pregnant women than in non-pregnant women (all p?<?0.001); 2) the concentration of C3a, C4a and C5a did not change with gestational age (p?>?0.05); and 3) the median plasma concentration of C3a had a positive correlation with the plasma C4a and C5a concentrations (r?=?0.36, p?<?0.001 and r?=?0.35, p?<?0.001, respectively).

Conclusion.?1) Normal human pregnancy is associated with evidence of complement activation, as determined by higher concentrations of the anaphylatoxins C3a, C4a and C5a in the maternal circulation; and 2) we propose that physiologic activation of the complement system during pregnancy is a compensatory mechanism aimed at protecting the host against infection.