An AQP1 null allele in an Indian woman with Co(a-b-) phenotype and high-titer anti-Co3 associated with mild HDN

BACKGROUND: The Colton blood group system (CO, ISBT 015) is composed of three antigens, of which Co3 (ISBT 015.003) is carried by almost all persons, except those of the extremely rare Co(a-b-) phenotype. The Colton blood group antigens are expressed by the water channel aquaporin 1 (aqp1; also known as channel-forming integral protein, CHIP-28), which is a highly conserved RBC integral membrane protein. The two most frequent alleles, CO1 and CO2, encode the antigens Co(a) and Co(b), respectively. Four null alleles have been described for the AQP1 gene to date. CASE REPORT: An Indian woman had an alloimmune antibody to an high-frequency antigen associated with mild HDN. Her RBCs were typed Co(a--b-), and the antibody was an anti-Co3. She typed CO1-positive and CO2-negative in a new genotyping method, using PCR with sequence-specific priming, for CO1 and CO2. A method for nucleotide sequencing of the four AQP1 exons from genomic DNA was developed. The patient was shown to be homozygous for a nonfunctional allele AQP1(232delG) that also carried the CO1-specific polymorphism. CONCLUSION: The kindred presented a fifth example of an AQP1 null allele, which was caused by a single nucleotide deletion leading to a shift in the reading frame beyond codon 78. A method of genotyping CO for Co(a) and Co(b) antigen phenotype prediction was presented.     

Randomized Trial of Functional Electrical Stimulation Therapy for Walking in Incomplete Spinal Cord Injury: Effects on Quality of Life and Community Participation

Background:

Functional electrical stimulation (FES) therapy has been applied to achieve functional benefits post spinal cord injury (SCI), but little is known about its effects on well-being.

Objective:

Using a parallel-group randomized controlled trial (RCT) design ({"type":"clinical-trial","attrs":{"text":"NCT00201968","term_id":"NCT00201968"}}NCT00201968), the effects of a FES-assisted walking intervention on quality of life and participation post SCI were compared to a non-FES exercise program.

Methods:

Individuals with chronic (≥18 months) incomplete SCI (level C2 to T12, AIS C or D) were randomized to a FES-assisted walking (intervention) or aerobic/resistance training (control) sessions 3 times a week for 16 weeks. The Spinal Cord Independence Measure (SCIM), Satisfaction With Life Scale, Lawton Instrumental Activities of Daily Living, Craig Handicap and Assessment Reporting Technique, Reintegration to Normal Living Index, and perceptions of intervention(s) outcomes were completed at baseline, 4, 6, and 12 months. Repeated measures general linear models were used to assess between-group differences. Perceptions of intervention(s) were analyzed using qualitative content analysis.

Results:

Thirty-four individuals were randomized (17 per group); 27 remained at 12 months. The FES group had a significant increase (P < .01) on SCIM mobility subscores (mean [SD] = 17.27 [7.2] to 21.33 [7.6]) compared to the exercise group (mean [SD] = 19.9 [17.1] to 17.36 [5.5]). Although no significant between-group differences were detected for other outcomes, both groups reported positive gains in well-being from trial participation.

Conclusions:

The present study provides insight into the perceived benefits acquired by participating in an RCT comparing exercise to FES therapy and serves as a model for pinpointing domains of well-being that could be targeted for assessment in future SCI trials.Key words: activities of daily living, community participation, exercise, functional electrical stimulation, qualitative research, quality of life, spinal cord injuries, therapy, walkingFunctional electrical stimulation (FES) has been used for over 40 years as a method to generate contraction in paralyzed muscles and restore functions, such as walking, by applying bursts of short electrical pulses to the muscles or the peripheral nerves that innervate the muscles of interest.¹ Originally, FES was applied as a permanent orthotic device to restore function, where the patient depended on the FES system for the rest of his or her life to perform the function. Recent application of FES as a short-term therapy in regular training sessions has been used to improve or recover voluntary function, and the reliance on FES to achieve muscle contraction is reduced over time. As such, the benefits of FES therapy could be maintained over time without the continued use of an FES therapeutic device.² FES therapy has been shown to improve gait in persons with chronic incomplete spinal cord injury (SCI). In a convenience sample of 5 persons with incomplete SCI, Thrasher and colleagues³ reported that their FES therapy gait-training regimen was effective for improving voluntary walking function in a chronic SCI patient population for whom significant functional changes were not expected.Whether the functional gains achieved by FES therapy translate into clinically meaningful improvements in quality of life (QoL) and community participation for people with chronic SCI is unknown. Our research team conducted a randomized controlled trial (RCT) with the primary aim of testing the hypothesis that the application of our FES-assisted walking protocol 3 times a week for 16 weeks could improve functional mobility in individuals with chronic motor incomplete SCI and that the improvement would be maintained 8 months after cessation of training. Given the expectation of greater functional gains (ie, mobility) from the FES-assisted walking protocol, we hypothesized that the FES therapy group would report significant gains in QoL and community participation compared to the conventional exercise control group.     

Cross-cultural study of a biochemical abnormality in paranoid schizophrenia

We studied 24-hour urinary excretion of phenylethylamine (PEA) and creatinine in 50 schizophrenic (39 paranoid and 11 nonparanoid) and 19 nonpsychiatric patients from Bombay, India. Methods for diagnosis, clinical assessment, and 24-hour urine collection were identical to those used in an earlier study done in a Washington, D.C. hospital. Clinical evaluations were done in Bombay, while urinary PEA and creatinine estimations were performed at NIMH, Washington, without knowledge of the subjects' identity. Paranoid schizophrenic patients had significantly greater 24-hour urinary excretion of PEA than both nonparanoid schizophrenic patients and nonpsychiatric controls. The mean amount of PEA per g creatinine in urine was also highest for paranoid schizophrenic patients. Our findings provide cross-cultural support to the possibility of abnormal PEA metabolism in at least some patients with paranoid schizophrenia.     

Ultra sound guided percutaneous cholecystostomy

Ultrasound guided percutaneous cholecystostomy was performed in 11 patients. In 9 cases there was surgical jaundice due to obstruction of the common bile duct and in 2 cases it was done for empyema of the gall bladder. The placement of a catheter in the gall bladder was successful in all cases. In one case, due to obstruction of the cystic duct, biliary decompression was not achieved. Bile leak or haemorrhage did not occur in any patient. The technique and results are reported, the possible uses of this procedure are discussed and its potential use in providing access to the biliary tree is highlighted.     

Participation of pigment epithelium in ocular immune privilege. 3. Epithelia cultured from iris,ciliary body,and retina suppress T-cell activation by partially non-overlapping mechanisms

Purpose: To assess the clinical course, determine the efficacy and safety of oral methotrexate in the control of intraocular inflammation, and evaluate the outcomes of lensectomy-vitrectomy and goniosynechiolysis on pediatric VKH-associated panuveitis. Design: Retrospective non-comparative interventional case series. Participants: Ten patients (20 eyes) with pediatric VKH-associated panuveitis (onset of disease at age 14 years or younger). Intervention: Stepwise medical treatment consisted of oral prednisolone (0.5–1 mg/kg), supplemented by oral methotrexate (5–7.5 mg/wk) in refractory cases. Surgical intervention was performed for complications such as visually significant cataracts and secondary glaucoma and included pars plana lensectomy-vitrectomy and peripheral anterior synechiolysis in a one-stage procedure. Main outcome measures: Control of inflammation, corticosteroid requirement, visual acuity, and intraocular pressure (IOP). Results: Ten consecutive patients with a minimum follow-up duration of six months were analyzed. All patients were initially treated with oral corticosteroids; methotrexate was additionally required in six subjects. In all eyes, inflammation decreased and vision was preserved or improved. Side effects of methotrexate were mild and transient. Nine eyes of five patients underwent combined lensectomy and vitrectomy. The procedure was successful in all eyes without any exacerbation of inflammation. Eight eyes had elevated IOP, six of which underwent peripheral anterior synechiolysis at the time of lensectomy-vitrectomy. IOP was controlled after the procedure in all eyes with timolol only. Overall, final visual acuity was ≥20/40 in 30% of the eyes and < 20/200 in only 20%. Conclusions: Pediatric VKH-associated panuveitis seems to follow an aggressive course; the development rate of cataracts and secondary glaucoma seems to be high. Oral methotrexate is a safe and effective adjunct and displays steroid-sparing properties in the control of inflammation. Surgical interventions including peripheral anterior synechiolysis in addition to pars plana lensectomy and vitrectomy may be effective in controlling IOP in eyes with cataract and glaucoma. Precis: Vision may be preserved in pediatric VKH panuveitis using steroids and methotrexate for the control of inflammation, lensectomy-vitrectomy for visual improvement, and synechiolysis for IOP control.     

Knowledge of and Interest in the Copper Intrauterine Device Among Women Seeking Emergency Contraception

Objective

Emergency contraception (EC) includes hormonal pills (levonorgestrel or ulipristal acetate) and the copper IUD (Cu-IUD). The Cu-IUD is more effective for EC than hormonal pills but remains underused, possibly because of lack of knowledge or interest. The objective of this study was to examine knowledge of and interest in the Cu-IUD for EC among Canadian women seeking EC.

Localization of lectin binding sites in human, cat, and rabbit corneas

Paraffin sections of human, cat, and rabbit corneas were stained with nine lectins, using an avidin-biotin-complex procedure to study glycoconjugates of the epithelium, keratocytes, and stromal matrix. Wheat germ agglutinin (WGA) stained plasma membranes of all epithelial cell layers of cat and human and superficial and wing cells of rabbit. Plasma membranes of superficial and wing cells of cat epithelium also stained with peanut agglutinin (PNA) and Ricinus communis agglutinin I (RCA-I). Human and cat keratocytes stained with WGA and RCA-I. Stromal matrices of all three species were stained with concanavalin A and lentil agglutinin. In neuraminidase-treated sections, the entire epithelium and keratocytes of all three species stained with PNA. Corneal sections from the three species did not stain with Bandeiraea simplicifolia I, Bandeiraea simplicifolia II, Ulex europeus I, and Soybean agglutinin. These data suggest the presence of oligosaccharides with: N-acetylglucosamine/sialic acid residues in cell membranes of corneal epithelium of all species studied and in the keratocytes of human and cat; terminal beta-galactose residues in cat and human keratocytes, beta-galactose-galactosamine chains in cat epithelial cell membranes; and sialic acid-beta-galactose-galactosamine chains in epithelial cell membranes and keratocytes of all three species.