Extradigital glomus tumor of the anterior knee.

The benign glomus tumor is an uncommon cause of crippling pain most commonly associated with the fingers. This sheep in wolf's clothing is identified by careful examination, confirmed by MRI, and often resolved with a simple procedure. Here we present a patient with chronic knee pain of 21 years duration.

Evidence for safe tourniquet use in 500 consecutive upper extremity procedures.

BACKGROUND: Although pneumatic tourniquets are widely used in upper extremity surgery, further evidence is needed to support their safe use. Excessive pressure and prolonged ischemic time can cause soft-tissue injury. The purpose of this study was to determine the safety of tourniquet use in a yearlong, consecutive series of patients. METHODS: A retrospective review of all patients who underwent upper extremity surgery by two board-certified hand surgeons over a 1-year period was performed. Demographic variables, comorbidities, and complications were noted along with tourniquet parameters, including application site, ischemic pressure, and time. RESULTS: A total 505 patients were included in the study because a tourniquet was used during their operation. Patients ranged in age from 3 months to 90 years old (mean 40.1 years). More than half of the population was overweight (mean body mass index (BMI) 27.1), and 77.1 % of adults had at least one cardiac risk factor. No immediate or delayed tourniquet-related injuries were identified. The average operative time was 35.9 min, with an average tourniquet time of 33.1 min. Tourniquet inflation pressure of 250 or 225 mmHg was utilized in 78 and 21 % of adult patients, respectively; no patients had a pressure setting exceeding 275 mmHg. CONCLUSION: In this series of more than 500 operations, there were no immediate or delayed tourniquet-related events using parameters determined perioperatively by the attending surgeon. Tourniquet pressures of 250 mmHg or less in adult patients with less than 2 h of ischemic time appear to be safe, even in the elderly and patients with multiple medical comorbidities.

Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene.

BACKGROUND: Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism that is characterized by the persistence of Mullerian derivatives in otherwise normally virilized males. Mutations of the Mullerian inhibiting substance (MIS) gene or the MIS type II receptor (MISRII) gene have been identified in PMDS patients with autosomal recessive transmission. We analyzed a compound heterozygote PMDS patient who had a 27-bp deletion in exon 10 in one allele and a novel mutation in intron 5 in the other allele of the MISRII gene. METHODS: Whole blood and tissue samples were obtained from a one-month-old 46,XY male with persistent PMDS and the MISRII gene was sequenced and compared to his mother's genomic DNA and that of 22 normal individuals. Serum MIS and the reproductive hormones were measured by standard immunoassays. RESULTS: The patient's hormone levels were normal but the gene for MISRII contained several mutations, a 27-bp deletion in exon 10 on one allele (one of the most common mutations in PMDS) and a novel mutation in intron 5 in the other allele that altered splicing, resulting in retention of the intron and a frameshift, introducing a stop codon. Other mutations in introns 6 and 9 and in exon 11 might not be functionally significant. CONCLUSIONS: This case reveals a novel mutation in the MISRII gene involving intronic sequences, which when coexisting with the already identified 27-bp deletion in exon 10, leads to PMDS.

Highly purified müllerian inhibiting substance inhibits human ovarian cancer in vivo.

PURPOSE: Müllerian inhibiting substance (MIS) causes Müllerianduct regression in mammalian, avian, and reptilian embryos; MIS also inhibits growth in vitro of Müllerian-derived cell lines and primary cells from human ovarian carcinomas. We hypothesize that highly purified MIS delivered parenterally inhibits ovarian cancer in vivo. EXPERIMENTAL DESIGN: To test the efficacy of highly purified MIS against ovarian cancer cell lines in vivo, we treated immunosuppressed mice with MIS after implanting OVCAR 8 or IGROV 1 human ovarian cancer cells beneath the renal capsules and measured tumor volume over time. Animals were treated with daily injections of 10 micro g of purified exogenous recombinant human MIS or by endogenous MIS secreted from cells growing on biodegradable mesh. RESULTS: The average graft size ratio (change in size compared with starting size) of the OVCAR 8 tumor implants was larger in the control animals than in animals treated for 2 weeks (P < 0.019) or 3 weeks (P < 0.001) with parenteral MIS, or after treating with MIS produced from transfected cells, which impregnated the biodegradable mesh (P = 0.02). The average graft size ratio of the IGROV 1 tumors was also larger in the control animals than in those treated with injected MIS (P = 0.0174). CONCLUSIONS: Highly purified recombinant human MIS, delivered parenterally, or MIS produced endogenously causes inhibition of human ovarian cancer cell lines in vivo, providing convincing preclinical evidence to support the use of MIS as a parenteral agent for the treatment of ovarian cancer.

Early follicular serum müllerian-inhibiting substance levels are associated with ovarian response during assisted reproductive technology cycles.

OBJECTIVE: To test the hypothesis that the concentration of early follicular phase serum müllerian-inhibiting substance (MIS) is associated with ovarian response in women undergoing ovulation induction in preparation for assisted reproductive technology (ART). DESIGN: Retrospective analysis of frozen day 3 serum samples. SETTING: Academic ART program. PATIENT(S): One sample of frozen day 3 serum from women with < or = 6 retrieved oocytes (n = 28) compared with women with > or = 11 oocytes retrieved (n = 79) in preparation for IVF. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Comparison of day 3 serum MIS levels between two groups of women. Other comparisons included maximum serum E(2) concentrations, number of retrieved oocytes, and percentage of mature oocytes between groups. RESULT(S): Mean serum MIS concentrations were 1.0 +/- 0.4 ng/mL compared with 2.5 +/- 0.3 ng/mL, or more than a 2.5-fold greater serum concentration of MIS in the group with > or = 11 oocytes retrieved compared with in the group with < or = 6 retrieved oocytes. CONCLUSION(S): These data demonstrate an association between early follicular phase serum MIS and the number of retrieved oocytes. Higher day 3 serum MIS concentrations were associated with greater number of retrieved oocytes.