Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Hereditary angioedema (HAE) is an autosomal dominant disease that manifests as intermittent acute swellings of the skin and mucosal surfaces, which, in the gastrointestinal tract and larynx, may even be fatal. HAE results from functional deficiency of the C1 inhibitor (C1INH) protein, which plays a key role in the classical pathway of complement activation. C1INH is the sole inhibitor of the activated proteases C1r and C1s, and is the major regulator of activated coagulation Factor XII and plasma kallikrein, which limits the generation of the vasoactive peptide bradykinin. In this paper, we report on the genetic analysis of 173 families (including 326 members) with a clinical diagnosis of HAE. Direct sequencing, Southern blotting and quantitative PCR by the MLPA method were used to screen for mutations in C1INH (SERPING1). In 142 families (82.1%), a causative C1INH gene mutation could be identified. A total of 80 novel point mutations of C1INH not published previously were detected in 96 pedigrees (including 172 members). Our results corroborate C1INH (SERPING1) deficiency as a disease of extreme allelic heterogeneity with almost each individual family carrying their own mutation. Routine molecular genetic analysis is an effective way of confirming the clinical diagnosis and identifying mutation carriers early on before any clinical manifestation becomes apparent. It is, therefore, a valuable tool in prevention and adequate treatment of acute and life-threatening oedema.

Improved technique of laparoscopic nephrectomy for multicystic dysplastic kidney.

We report removal of a multicystic dysplastic kidney with a laparoscopic technique that uses only three trocar sites. Additionally, we have found placement of a ureteral catheter and full mechanical and antibacterial bowel cleansing unnecessary. The role of this surgery in the management of multicystic dysplastic kidney is discussed.

High resolution spectrophotometry for identification of chlorine dioxide in concentrated chlorine solutions.

Electrolyzed salt brine generators hold great promise for water disinfection in small communities and remote locations. Electrolysis cell liquors have been reported to contain chlorine, chlorine dioxide and ozone. High resolution spectrophotometry was used to observe the presence (or absence) of a unique spectral absorbance pattern present in solutions containing 1-2 mg/l chlorine dioxide.

Fine-needle aspiration biopsy of mucinous cystic neoplasm of the pancreas: a case study.

This report illustrates the cytologic features of well-differentiated cystic adenocarcinoma of the pancreas obtained by fine-needle aspiration biopsy. It also discusses the differentiation of pseudocyst vs neoplastic cyst by this method.

Deuterium anions in inertial electrostatic confinement devices.

A magnetic deflection-energy analyzer and Faraday trap diagnostic have been used to make measurements of divergent deuterium anion flow in the inertial electrostatic confinement experiment at the University of Wisconsin-Madison (UW-IEC) [J. F. Santarius, G. L. Kulcinski, R. P. Ashley, D. R. Boris, B. B. Cipiti, S. K. Murali, G. R. Piefer, R. F. Radel, I. E. Radel, and A. L. Wehmeyer, Fusion Sci. Technol. 47, 1238 (2005)], a device to confine high-energy light ions in a spherically symmetric electrostatic potential well. Deuterium anion current densities as high as 8.5 microA/cm2 have been measured at the wall of the UW-IEC device, 40 cm from the surface of the device cathode with a detector assembly of admittance area 0.7 cm2. Energy spectra obtained using a magnetic deflection-energy analyzer diagnostic indicate the presence of D2(-), and D- ions produced through thermal electron attachment near the device cathode, as well as D- ions produced via charge-transfer processes between the anode and cathode of the device.

Primary neoplasms of the penile shaft.

Squamous cell carcinoma of the penis usually arises from the glans, corona, or prepuce. We present an unusual patient with two primary carcinomas arising on the penile shaft.

Studies of selectivity in the amaranth method for chlorine dioxide.

Studies were designed to evaluate the amaranth method for measuring chlorine dioxide in water. Specifically, the effects of pH and temperature are examined for the amaranth method. The results of interference studies are reported for free available chlorine species, chlorite ion, chlorate ion, iron (III) ion, oxidized manganese, and monochloramine. Additional research focused on selectivity enhancement for chlorine dioxide over free available chlorine using ammonia/ammonium chloride buffer and gas diffusion-flow injection analysis. The results of method detection limit and accuracy and precision studies are reported for measuring chlorine dioxide in the presence of free available chlorine.

Are modern imaging techniques over diagnosing ureteropelvic junction obstruction?

Since the widespread use of real-time ultrasonography in the early 1980s, ureteropelvic junction obstruction has been diagnosed at earlier ages and prenatally on a presumptive basis. However, substantial controversy exists over the diagnosis and treatment of ureteropelvic junction obstruction. We conducted an epidemiological study to determine if modern imaging techniques are leading to the over diagnosis of ureteropelvic junction obstruction. Records were collected retrospectively from 3 hospitals serving 2 adjacent counties to determine the number of pyeloplasties performed in 1970 to 1992. The 2 university hospitals and 1 large private hospital provide a wide variety of services and choice of urologists, and so it was assumed that most patients requiring pyeloplasty in the area would be captured. Of the 555 pyeloplasties 240 (43%) were performed on children 12 years old or younger. Logistic regression analysis revealed an overall increase of pyeloplasties per year of 56.8% in 23 years, which was not markedly different from the population growth in the area in the same period (49.3%). A statistically significant increase in the number of pyeloplasties performed in the first year of life was noted. This trend appeared to begin in 1981: 8 pyeloplasties were performed in the first year of life between 1970 and 1980 compared to 91 between 1981 and 1992. Pyeloplasties in children 1 to 6 years old increased with time at a much lower rate that was not statistically significant and the number of pyeloplasties decreased in those 7 to 12 years old. Therefore, it appears that modern imaging techniques are not leading to an over diagnosis of ureteropelvic junction obstruction but to detection of the disease at an earlier age.