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Objective: The study aimed to describe a case of low-grade fibromyxoid sarcoma arising from the vulva and to discuss the diagnostic challenges, clinical management, and epidemiology of this rare malignancy., Case: A 36-year-old woman presented to 3 separate emergency departments with complaints of a painful and slowly enlarging vulvar mass. Eventual gynecologic referral resulted in excision of a 6-cm, noncystic vulvar mass. Pathological diagnosis revealed low-grade fibromyxoid sarcoma. Later, a right radical hemivulvectomy ensured adequate margins, and 2 years later, the patient is free of recurrent and metastatic disease., Conclusions: Low-grade fibromyxoid sarcoma is a rare malignancy that may present in the lower genital tract. Definitive diagnosis is essential because low-grade fibromyxoid sarcoma may metastasize many years after diagnosis, thereby requiring indefinite clinical surveillance.

Objective: To determine the effect of shipping blood in Streck blood collection tubes (BCT) prior to processing on cell-free DNA (cf-DNA) levels., Methods: Blood was collected in ethylenediaminetetraacetic acid (EDTA) and BCT tubes from 10 pregnant women carrying male fetuses. One set of each tube for each subject was processed to plasma immediately (standard cf-DNA protocol), whereas the other set was shipped by air courier and then processed. DNA was extracted and total and fetal DNA concentrations were measured by TaqMan multiplexed quantitative real-time PCR., Results: No significant difference was observed in total cf-DNA in plasma between immediately processed EDTA (control) and immediately processed BCT samples. Moreover, no significant change in total cf-DNA was detected in plasma of BCT samples shipped at room temperature. Significant differences in total cf-DNA leading to a significantly decreased fetal fraction were found in shipped EDTA samples and BCT samples shipped at 4°C., Discussion: BCT tubes are suitable for shipping whole blood prior to processing with respect to cf-DNA levels. However, care should be taken to ensure that samples are not exposed to extreme temperatures during shipment. This finding will benefit the development and clinical application of noninvasive methods of fetal diagnosis that utilize cf-DNA., (Copyright © 2012 S. Karger AG, Basel.)

Background: Screening tests for Trisomy 21 (T21), also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA., Methods and Findings: Highly heterozygous tandem Single Nucleotide Polymorphism (SNP) sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary Electrophoresis (CTCE). This approach was used to blindly analyze plasma DNA obtained from peripheral blood from 40 high risk pregnant women, in adherence to a Medical College of Wisconsin Institutional Review Board approved protocol. Tandem SNP sequences were informative when the mother was heterozygous and a third paternal haplotype was present, permitting a quantitative comparison between the maternally inherited haplotype and the paternally inherited haplotype to infer fetal chromosomal dosage by calculating a Haplotype Ratio (HR). 27 subjects were assessable; 13 subjects were not informative due to either low DNA yield or were not informative at the tandem SNP sequences examined. All results were confirmed by a procedure (amniocentesis/CVS) or at postnatal follow-up. Twenty subjects were identified as carrying a disomy 21 fetus (with two copies of chromosome 21) and seven subjects were identified as carrying a T21 fetus. The sensitivity and the specificity of the assay was 100% when HR values lying between 3/5 and 5/3 were used as a threshold for normal subjects., Conclusions: In summary, a targeted approach, based on calculation of Haplotype Ratios from tandem SNP sequences combined with a sensitive and quantitative DNA measurement technology can be used to accurately detect fetal T21 in maternal plasma when sufficient fetal DNA is present in maternal plasma.

Objective: Postpartum dyspareunia has been attributed by authors of obstetric texts to episiotomy tenderness or vaginal atrophy. The nursing literature attributes it to low estrogen levels. This study attempts to examine these assumptions, to clarify the incidence of postpartum dyspareunia and the length of time it is likely to last., Study Design: Sixty-two women in a private practice were examined between two and eight weeks postpartum and followed prospectively., Results: Forty-five percent of parturients developed entry dyspareunia, but only 6% had pain at the sites of vulvar repair. The median length of symptoms in the 39% with nonfocal introital dyspareunia was 5.5 months, and tenderness lasted up to 1 year. Such dyspareunia developed in women having a first (42%) or second (47%) infant, delivering vaginally (42%) or by cesarean section (29%), and lactating (41%) or not lactating (22%). One-third of those affected had severe sexual dysfunction., Conclusion: Postpartum dyspareunia is quite common and can be a significant source of difficulty in the months after delivery. It is an underdetected problem and deserves more study.

Objective: To determine if anti-inflammatory treatment for asthma reduces the risk of asthma hospitalization., Design: Retrospective cohort study., Setting: A health maintenance organization (HMO) in eastern Massachusetts., Participants: Members of the HMO who were identified during the period October 1991 through September 1994 as having a diagnosis of asthma using a computerized medical record system., Main Outcome: Hospitalization for asthma., Results: Of the 16941 eligible persons, 742 (4.4%) were hospitalized for asthma. The overall relative risk (RR) of hospitalization among those who received inhaled steroids was 0.5 (95% confidence interval [CI], 0.4-0.6) after adjustment for beta-agonist dispensing. Additional adjustment for age, race, other asthma medications, and amount and type of ambulatory care for asthma did not substantially affect the inverse relationship between use of inhaled steroids and hospitalization. Cromolyn was similarly associated with reduced risk, especially among children (RR,0.8; 95% CI, 0.7-0.9). In contrast, increasing beta-agonist use was associated with increasing hospitalization risk even after adjustment for other factors and medications. The steroid-associated protection was most marked among individuals who received the largest amount of beta-agonist., Conclusions: Inhaled steroids and, to a lesser extent, cromolyn confer significant protection against exacerbations of asthma leading to hospitalization. These results support the use of inhaled steroids by individuals who require more than occasional beta-agonist use to control asthma symptoms.

Automated medical records systems are used to study clinical outcomes and quality of care, but this requires accurate disease identification and assessment of severity. We sought to determine the reliability of identifying asthmatics through automated medical and pharmacy records, and the adequacy of such data for severity assessment. All adult health maintenance organization (HMO) members who received at least one asthma drug and an asthma diagnosis between April 1988 and September 1991 were identified. Records of a random sample were reviewed to validate the diagnosis and extract clinical information. Asthma drugs were dispensed to 15,491 individuals; 7583 (49%) also received an asthma diagnosis. Asthma drug use was three times greater for persons with diagnosed asthma compared to those with no diagnosis. Record review revealed that a coded asthma diagnosis had a positive predictive value of 86%. Nearly 4000 ambulatory encounters were reviewed, 10% of which were for asthma; the median number of encounters was two. Asthma symptoms were mentioned in 9% of all encounters; wheezing was most common. Peak flow and spirometry were measured in 4% and 1% of encounters, respectively. Records from recipients of asthma drugs who lacked an asthma diagnosis showed that 79% did not have asthma. Automated medical and pharmacy records from an HMO were relatively accurate when used to identify individuals with asthma. Similarly, most asthma drug recipients who lacked a coded diagnosis of asthma did not have asthma. However, conventional full-text records usually do not contain sufficient information to assess asthma severity, limiting the utility of such records for research and quality improvement.

Objective: The prototype of surgical treatment for vulvar vestibulitis has been the Woodruff vulvoplasty. A simpler surgery could be less morbid, technically easier, and equally effective., Study Design: Twelve patients underwent vestibular revision, nine with local anesthesia. They were followed up for between 6 months and 6 years. Outcome was judged by ease of healing and relief of tenderness. This was a feasibility study., Results: Ten of 12 patients had complete resolution of vestibulitis. Two others had improvement. Other causes of dyspareunia remain in 2 subjects. Issues of patient histories, postoperative healing, and functional outcome are reported., Conclusion: A simple surgery seems well suited to this problem. Additional causes of dyspareunia need to be recognized preoperatively and clarified. Development of granulation tissue in areas of wound separation can create sites of continued pain. Postoperatively, reflex vaginismus should be expected and needs therapy to complement the surgical treatment.

All gynecologic patients seen by the author during a 6-month period were questioned and examined by means of a swab test to determine the prevalence of vulvar vestibulitis and the normal variation in sensitivity of vestibular skin. Of 210 patients, 78 (37%) had some degree of positive testing. A total of 31 patients (15%) were found to fulfill the definition of vulvar vestibulitis. A questionnaire was administered to these patients as well as to seven patients in whom vestibulitis had been previously diagnosed. A total of 50% had always had pain, most since their teenage years. Their history was not suggestive of a cyclic or remittent pattern of symptoms. Those with secondary dyspareunia or resolution of pain were usually either in a post partum phase or had group B streptococcus or human papillomavirus. The two most severe cases of vestibulitis occurred after use of fluoroucil cream. A total of 32% had some female relative with dyspareunia or tampon intolerance, raising the issue of a genetic predisposition.

A cytologic method is described for the identification of trophoblastic epithelium in products of first-trimester abortion. In material from 50 consecutive induced first-trimester abortions, trophoblast was identified cytologically in 46 cellular samples (93.9%). In addition, nucleated fetal erythrocytes were found in 26 cellular samples (53%). There were no false positives, and three false negatives occurred. One negative examination, confirmed by histologic study, led to procedures that diagnosed ectopic tubal pregnancy. The cytologic method is easily performed and is rapid, sensitive, certain, inexpensive, and permanent. Cytologic study should not supplant meticulous macroscopic examination of abortion products by the clinician.