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PubMed2006

Mixed latency difference for diagnosis of ulnar neuropathy at the elbow.

OBJECTIVE: To provide reference values and to compare this technique with the standard motor conduction velocity (MCV) of the ulnar nerve. DESIGN: Retrospective unmasked study. SETTING: Private and institutional practice. PARTICIPANTS: The reference group included 57 healthy volunteers. Patients included 100 subjects with suspected ulnar neuropathy at the elbow (UNE) referred for neurophysiologic evaluation. This group was subdivided into 2 groups: group A was composed of 45 patients with UNE confirmed by MCV of the ulnar nerve, and group B included 55 patients with suspected UNE in whom the diagnosis could not be established by MCV of the ulnar nerve. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Differences between peak latencies of ulnar and median mixed nerve action potentials at the arm, after stimulating these nerves at the wrist. This was called mixed latency difference. RESULTS: The upper normative limit of the mixed latency difference was 1.1 ms, and there was a significant correlation with height. In group A, the mixed latency difference was abnormal in 80% of the cases and could not be calculated in 18%. In group B, the mixed latency difference was abnormal in 8 (15%) patients. All of these had abnormal "inching" of the ulnar nerve across the elbow. CONCLUSIONS: The mixed latency difference was particularly useful in cases of mild UNE.

Action Potentials↗

PubMed2006

Video-assisted mediastinoscopic surgery: clinical feasibility and accuracy of mediastinal lymph node staging.

BACKGROUND: This study was conducted to assess indications, procedures, complications, and clinical feasibility of video-assisted mediastinoscopic surgery (VAMS). It also assessed the accuracy of mediastinal lymph node staging by video-assisted mediastinoscopic lymphadenectomy (VAMLA) with bimanual dissection through the twin-bladed, expanding Linder-Dahan mediastinoscope. METHODS: From 2000 to 2004, we documented and assessed 226 consecutive procedures in a prospective database. RESULTS: A total of 144 VAMLAs for the staging of resectable bronchial carcinoma, and 82 less extensive procedures for other indications were performed, combined with extended mediastinoscopy in 72 patients and with mediastinoscopic sonography in 26. Mean operation time was 54.1 minutes for VAMLA and 36.6 minutes for less extensive procedures. We observed nine complications: five recurrent nerve paralyses, one arterial and two venous injuries, and one mediastinitis. The complication rate was 3.98%, which dropped from 5.3% to 2.6% with growing experience. VAMS detected mediastinal lymph node involvement in 61 (32.8%) of 186 patients with bronchial carcinoma (N2, 45; N3, 16). Mediastinal reassessment at open surgery was done in the 130 resected patients and showed for VAMLA a specificity of 93.75%, a sensitivity of 100%, and a false-negative rate of 0.9%. CONCLUSIONS: In our institutional practice, VAMS has replaced conventional mediastinoscopy for reasons of extended surgical options, safety, precision, education, documentation, and enhanced accuracy of pretherapeutic mediastinal staging. Mediastinal staging of resectable bronchial carcinoma is done by VAMLA, because the accuracy is equal to open lymphadenectomy and the access to the left paratracheal and tracheobronchial lymph nodes is improved. No increase in the complication rate was observed. Prolonged operation time was due to more extended procedures not possible with conventional mediastinoscopy, like VAMLA.

Adolescent↗

PubMed2006

Antithrombin deficiency and its relationship to severe burns.

Antithrombin (AT) is an important endogenous anticoagulant and exhibits marked anti-inflammatory properties. To evaluate the incidence of AT deficiency in severe burn and its correlation to the variables of the abbreviated burn severity index (ABSI), length of hospital stay (LOS) and mortality we collected data on the substitution of human plasma-derived AT concentrate in 201 consecutive patients suffering from severe burn. One hundred and eight patients (54%) developed AT deficiency during their hospitalisation and, according to our institutional practice, received substitution therapy by continuous infusion to maintain physiological plasma activity (70-120%). The mean administered dose served as a measure of AT deficiency. The percentage of patients in an AT deficient state was highest within the first 5 days after injury. It was 26% on day 1 and between 38% and 41% on days 2-5 and thereafter decreased constantly over time. A multiple regression analysis between the dependent variable mean administered dose of AT concentrate and the independent variables age, total body surface area burned (TBSA), gender, inhalation injury (INHAL), full thickness burn (FTB), LOS and mortality was performed. Age, gender and FTB showed no significant influence on the development of AT deficiency. Increasing TBSA and INHAL clearly increase the risk of developing AT deficiency (p-values 0.0001 and 0.037). The analysis also identified AT deficiency as an independent predictor of LOS and mortality (p-values 0.036 and 0.003). Development of AT deficiency is a frequent event after burn with significant correlation to TBSA and INHAL, increased mortality rates and longer hospital stays.

Anticoagulants↗

PubMed2005

Lower epidural anesthesia use associated with labor support by student nurse doulas: implications for intrapartal nursing practice.

Interventions of baccalaureate nursing students, trained as doulas, were examined for their association with epidural anesthetic use. Doulas, trained to support laboring mothers, are associated with shorter labors and fewer medical interventions. Data from a convenience sample of 89 vaginal births attended between 1999 and 2002 were analyzed. Analysis showed an association of lower epidural use with increased complementary doula interventions (.62 OR, P=.003) and an association of higher epidural use with longer labors (1.22 OR, P=.004). No significant association was found between epidural use and parity, income, education and type of health care provider. These findings support previous research of decreased analgesia use by doula-supported women and suggest benefits of the interventions by student nurse doulas. Students trained in providing low-tech supportive care may change the environment for intrapartum nursing practice. Institutional changes may be required to allow greater opportunity for intrapartal nurses to provide support to laboring women.

Adolescent↗

PubMed2004

Societal aspects of genetically modified foods.

This paper aims to examine some of the reasons behind public controversy associated with the introduction of genetically modified foods in Europe the 1990s. The historical background to the controversy is provided to give context. The issue of public acceptance of genetically modified foods, and indeed the emerging biosciences more generally, is considered in the context of risk perceptions and attitudes, public trust in regulatory institutions, scientists, and industry, and the need to develop communication strategies that explicitly include public concerns rather than exclude them. Increased public participation has been promoted as a way of increasing trust in institutional practices associated with the biosciences, although questions still arise as to how to best utilise the outputs of such exercises in policy development. This issue will become more of a priority as decision-making systems become more transparent and open to public scrutiny. The results are discussed in the context of risk assessment and risk management, and recommendations for future research are made. In particular, it is recommended that new methods are developed in order to integrate public values more efficaciously into risk analysis processes, specifically with respect to the biosciences and to technology implementation in general.

Animals↗

PubMed2006

Alteration of TH1 and TH2 cells by intracellular cytokine detection in patients with unexplained recurrent abortion before and after immunotherapy with the husband's mononuclear cells.

OBJECTIVE: To elucidate the possible mechanisms of immunotherapy for unexplained recurrent aborters using their husband's mononuclear cells. DESIGN: Prospective clinical study. SETTING: Institutional practice at the Outpatient Clinic for Infertility, Niigata University Medical Hospital. PATIENT(S): Fifty-two unexplained recurrent aborters were chosen as an experimental group. INTERVENTION(S): Each patient was injected with her husband's mononuclear cells as immunotherapy. Peripheral blood was obtained from the patients. MAIN OUTCOME MEASURE(S): The percentage of CD4-positive cells, TH1 cells, TH2 cells, and the TH1/TH2 ratio were analyzed in the patients before and after immunotherapy. The same analyses were performed in the successful and the unsuccessful group. RESULT(S): To date, 42 of the 52 patients have become newly pregnant. Of the 42, 34 patients have already delivered (successful group) and 3 are now pregnant, while the remaining 8 cases experienced repeated abortion (unsuccessful group). The percentage of TH2 cells significantly increased in the total patient population, while the TH1/TH2 ratio significantly decreased in the total patient population and in the successful group. CONCLUSION(S): These findings suggest that immunotherapy with the husband's mononuclear cells for unexplained recurrent abortion induces a dominant state of TH2 cells in the patients.

Abortion, Habitual↗

PubMed2007

Isolated type 5 antimitochondrial autoantibodies are associated with a history of thrombocytopenia and fetal loss.

OBJECTIVE: To report an unusual case of clinical antiphospholipid syndrome seen with recurrent fetal loss, chronic thrombocytopenia, and recurrent idiopathic thrombocytopenic purpura, in which the only laboratory marker was M5-type antimitochondrial autoantibodies (AMA). DESIGN: Case report. SETTING: University general hospital, tertiary level of clinical care. Institutional practice. PATIENT(S): A 65-year-old woman with antiphospholipid syndrome associated with autoimmune polyglandular syndrome of IIIC type. INTERVENTION(S): Clinical history and biochemical and immunologic markers. MAIN OUTCOME MEASURE(S): The presence of M5-type AMA in clinical antiphospholipid syndrome isolated by indirect immunofluorescence. RESULT(S): During the 10-year follow-up, immunologic studies detected a persistent positive M5-type AMA at high titer (1/640), antithyroid antibodies, anti-gastric parietal cells, and anti-intrinsic factor. Antinuclear, anti-DNA, and antiphospholipid (anticardiolipin, anti-beta(2)-glycoprotein I) autoantibody tests were all repeatedly negative. Results of coagulation studies and negative lupus anticoagulant were normal on several occasions. CONCLUSION(S): Our findings suggest the necessity of determining M5-type AMA in the study panel of antiphospholipid syndrome diagnosis, particularly in the absence of other typical autoantibodies.

Abortion, Habitual↗

PubMed2006

Restructuring home care in the 1990s: geographical differentiation in Ontario, Canada.

Through exploring the geographically differentiated effects of restructuring on the work of home care practitioners, labor process change is found to be spatially specific. It is through examining the spatiallity of labor process change that the differential impacts of health care restructuring on human health care resources can be determined. This has implications for human health care resource availability and service provision, which is particularly an issue for medically under-serviced regions. The restructuring approach, together with regulation theory, is used in this paper as tools for exploring the effects of health care reform on the local labor process. Both quantitative and qualitative data collected from home care practitioners in Ontario (Canada) show that the general trends in labor process change (work transfer down the home care hierarchy, increased time constraints, and enhanced job stress) are being similarly experienced, while shedding light on specific local differences. Findings show two working life factors to be differently experienced across the size of the place in which practitioners live and work. Two representative localities provide a closer examination of local differences in labor process change via the examination of local service cultures, local institutional practices, and local practitioner advocacy. The two sites are Sault Ste. Marie, located in northern Ontario's medically under-serviced northern health region, and Guelph, found in the province's well-serviced southern region.

Adult↗

PubMed2026

Exploring the perceptions, experiences, and behaviours that nurses and midwives face in relation to sleep: A systematic review of qualitative evidence.

BACKGROUND: The importance of sleep for nurses and midwives is increasingly being recognised. Poor sleep is known to have negative impacts on physical health, mental wellbeing, and work performance. This has prompted efforts to promote and support staff sleep. However, further efforts are needed to understand how nurses and midwives consider and manage sleep to ensure that meaningful and effective interventions are adopted and sustained. AIMS: This review of qualitative evidence aims to examine nurses' and midwives' perceptions, experiences, and behaviours around sleep. METHODS: This review followed JBI's systematic meta-aggregative approach including development of an a priori protocol. A systematic search of six electronic databases (MEDLINE, Embase, Emcare, PsycINFO, CINAHL, and Scopus) was undertaken to identify qualitative studies that examine nurses' and midwives' perceptions, experiences, and behaviours related to sleep. The search was conducted on the 10th of October 2024. Study selection, quality appraisal, data extraction, and synthesis followed JBI approaches and the ConQual approach was used to report assessment of synthesised findings. RESULTS: Thirty-three studies were included for review, and 245 findings were aggregated into 24 categories and nine synthesised findings related to the perceptions, behaviours, and experiences. While sleep was perceived as important, poor sleep was often understood as an expected and inevitable part of the job and that there was a need to always be awake to provide continual care. Experiences influencing sleep related to personal circumstances and work-related factors, as well as professional training and institutional practices. A range of behaviours, including planning time to sleep, using sleep aids, modifying the sleep environment, and altering daytime behaviours were also described. CONCLUSION: This review identified a range of perceptions, behaviours, and experiences that may influence the sleep of nurses and midwives which are vital to supporting individual and workforce wellbeing and safe, effective clinical practice. Insights from this review can be used to better understand nurses' and midwives' relationship with sleep and to develop and enhance targeted sleep interventions and programs that aim to promote and support healthy sleep among nurses and midwives. Open Science Framework Registration: 10.17605/OSF.IO/F32UM.

Humans↗

PubMed2005

Comparison between CT-based volumetric calculations and ICRU reference-point estimates of radiation doses delivered to bladder and rectum during intracavitary radiotherapy for cervical cancer.

PURPOSE: To compare CT-based volumetric calculations and International Commission on Radiation Units and Measurements (ICRU) reference-point estimates of radiation doses to the bladder and rectum in patients with carcinoma of the uterine cervix treated with definitive low-dose-rate intracavitary radiotherapy (ICRT). METHODS AND MATERIALS: Between November 2001 and March 2003, 60 patients were prospectively enrolled in a pilot study of ICRT with CT-based dosimetry. Most patients underwent two ICRT insertions. After insertion of an afterloading ICRT applicator, intraoperative orthogonal films were obtained to ensure proper positioning of the system and to facilitate subsequent planning. Treatments were prescribed using standard two-dimensional dosimetry and planning. Patients also underwent helical CT of the pelvis for three-dimensional reconstruction of the radiation dose distributions. The systems were loaded with 137Cs sources using the Selectron remote afterloading system according to institutional practice for low-dose-rate brachytherapy. Three-dimensional dose distributions were generated using the Varian BrachyVision treatment planning system. The rectum was contoured from the bottom of the ischial tuberosities to the sigmoid flexure. The entire bladder was contoured. The minimal doses delivered to the 2 cm3 of bladder and rectum receiving the highest dose (DBV2 and DRV2, respectively) were determined from dose-volume histograms, and these estimates were compared with two-dimensionally derived estimates of the doses to the corresponding ICRU reference points. RESULTS: A total of 118 unique intracavitary insertions were performed, and 93 were evaluated and the subject of this analysis. For the rectum, the estimated doses to the ICRU reference point did not differ significantly from the DRV2 (p = 0.561); the mean (+/- standard deviation) difference was 21 cGy (+/- 344 cGy). The median volume of the rectum that received at least the ICRU reference-point dose was 2.1 cm3. In 66 (71%) of 93 cases, <5 cm3 was treated to this dose. However, for the bladder, the estimated doses to the ICRU reference point were significantly lower than the D(BV2) (p <0.001); the mean difference was 680 cGy (+/- 543 cGy). The median volume of the bladder that received at least the ICRU reference-point dose was 13.0 cm3. CONCLUSIONS: Our data suggest that the estimated dose to the ICRU rectal point may be a reasonable surrogate for the DRV2. However, this result may not be applicable to other treatment guidelines and ICRT applicator systems. In contrast, the dose to the ICRU bladder point does not appear to be a reasonable surrogate for the DBV2. Correlation with late complications are needed to define the role of three-dimensional dosimetry in treatment planning.

Brachytherapy↗

PubMed2004

Serum values of metalloproteinase-2 and metalloproteinase-9 as related to unstable plaque and inflammatory cells in patients with greater than 70% carotid artery stenosis.

OBJECTIVE: Unstable carotid plaques, characterized by increased levels of macrophages and T lymphocytes, have high emboligenic potential and carry a risk for producing cerebral ischemic events. It has been suggested that plaque instability may be mediated by the family of metalloproteinases (MMPs). The purpose of this study was to analyze the relationship between concentrations of MMP-2 and MMP-9 and unstable carotid plaques, presence of macrophages and T-lymphocytes in the plaques, and neurologic symptoms, to establish additional risk markers in patients with greater than 70% carotid artery stenosis. This was a cross-sectional study carried out in a referral center and institutional practice in hospitalized patients. METHODS: The study included 40 patients with carotid artery stenosis treated with carotid endarterectomy. Of these patients, 67.5% had experienced a previous neurologic event and 32.5% exhibited no symptoms. MMP-2 and MMP-9 levels were determined with enzyme-linked immunosorbent assay 48 hours before surgery. Histopathologic analysis (stable or unstable) and immunohistochemistry (macrophage count, T lymphocytes, activated T lymphocytes) were carried out on the plaques. RESULTS: Mean MMP-2 and MMP-9 serum concentrations in the population studied were 1138.27 +/- 326.08 ng/mL and 1026.10 +/- 412.90 ng/mL, respectively. MMP-2 levels were significantly higher in patients with symptoms compared with patients without symptoms (1247.30 +/- 276.80 ng/mL vs 911.80 +/- 311.84 ng/mL; P =.001). MMP-9 was also significantly higher in the symptomatic group (1026.10 +/- 412.90 ng/mL vs 377.84 +/- 164.08 ng/mL; P =.001) and in patients with unstable plaques compared with those with stable plaques (1006.98 +/- 447.09 ng/mL vs 496.16 +/- 292.78 ng/mL; P =.001). In addition, we found a strong association between elevated MMP-9 concentration and presence of macrophages in plaque (Spearman rho, 0.45; P =.004). At logistic regression analysis, variables that best predicted the presence of unstable plaque were a previous neurologic event and MMP-9 level greater than 607 ng/mL (sensitivity, 96%; specificity, 92%; negative predictive value, 94.7%; positive predictive value, 93%). CONCLUSION: Elevated MMP-9 concentration is associated with carotid plaque instability and the presence of macrophages, factors that indicate increased risk for a neurological event. Determination of this gelatinase may enable identification of high-risk subgroups of patients with carotid artery stenosis.

Aged↗

PubMed2026

Comparison of deep and nondeep hypothermia in thoracic and thoracoabdominal aortic surgery: A systematic review and meta-analysis.

OBJECTIVE: Deep hypothermic circulatory arrest (DHCA) remains a cornerstone technique for neuroprotection and end-organ preservation during ascending aorta and arch surgeries. However, its benefits and risks compared with non-DHCA strategies in thoracic and thoracoabdominal aortic aneurysm (TAAA) repair are uncertain owing to conflicting evidence and variable institutional practices. METHODS: A systematic review and meta-analysis was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis and Cochrane guidelines. PubMed, Embase, and Cochrane Library were searched for comparative studies evaluating DHCA and non-DHCA techniques for open thoracic and TAAA repair. Random-effects models were applied to calculate pooled effect estimates. Effect sizes were risk ratio (RR) for binary end points and mean difference for continuous end points, both with 95% confidence intervals. Statistical significance was set at P < .05. Between-study heterogeneity was estimated using the I2 statistic. Metaregression analyses were used to explore the sources of heterogeneity. RESULTS: Nine observational studies, including 1041 patients, were analyzed. DHCA use was associated with a significantly lower risk of spinal cord injury (RR, 0.44; P = .012) compared with non-DHCA. However, DHCA was also associated with prolonged postoperative ventilation time (RR, 1.34; P = .003). No significant differences were observed in overall mortality, length of hospital and intensive care unit stay, stroke, or renal complications. Metaregression identified patient age as a moderator of length of stay variability, with older cohorts demonstrating longer recovery periods. CONCLUSIONS: DHCA is associated with a lower risk of spinal cord injury during TAAA repair without increasing mortality or stroke risk, although it is associated with longer ventilation times.

Humans↗

PubMed2006

Short-term effect of orlistat on dietary glycotoxins in healthy women and women with polycystic ovary syndrome.

Exogenous advanced glycation endproducts (AGEs, known atherogenic molecules) abundant in everyday precooked, rich in fat, overheated meals can possibly contribute to the increased risk for diabetes and cardiovascular disease in women with polycystic ovary syndrome (PCOS). The aim of the present study was to investigate the effect of a lipase inhibitor on absorbed food glycotoxins in healthy women and those with PCOS. A 2-day protocol was followed. In the first day, a meal rich in AGE was provided, which on the second day was followed by two 120-mg capsules of lipase inhibitor, orlistat. Serum AGE levels were evaluated at baseline (0 hours), and at 3 and 5 hours postmeal during the study. Thirty-six women were studied, 15 controls (mean age, 28.80 +/- 5.47 years; body mass index, 25.85 +/- 6.73 kg/m(2)) and 21 with PCOS (mean age, 25.29 +/- 5.06 years; body mass index, 30.40 +/- 7.51 kg/m(2)) (University Hospital, Athens, Greece, institutional practice). Serum AGE levels, on day 1, were significantly increased both in the control group and in the PCOS group as compared with basal values (control group, 14.1%; PCOS group, 6.0%; P < .001). The corresponding rise was significantly lower on day 2 when the same meal was combined with orlistat (control group, 4.1%; PCOS group, 2.0%; P < .01). A limitation of the study is that it is a nonplacebo, nonrandomized therapeutic trial where each subject is considered as its own control. In conclusion, this study demonstrated the beneficial effect of orlistat on the absorption of food glycotoxins.

Absorption↗

PubMed2003

Expression of extradomain-B-containing fibronectin in subretinal choroidal neovascular membranes.

PURPOSE: To investigate the presence of the fibronectin isoform containing the extradomain B (B-FN), a marker-protein of angiogenesis, in surgically excised human choroidal neovascular membranes (CNVM) to evaluate whether B-FN could be used as a therapeutic target for specific antibody-photosensitizer immunoconjugates. DESIGN: Laboratory investigation. METHODS: The setting was an institutional practice. The study population consisted of 15 eyes (15 patients) with CNVM undergoing membrane excision (four eyes with age-related macular degeneration, seven with pathologic myopia and four with multifocal choroiditis). The control group consisted of eight eye bank eyes (four subjects) without choroidal neovascularization. Light microscopic immunohistochemistry on cryostat sections of tissues was obtained. B-FN was detected by a human recombinant antibody, CGS-1, and compared with immunostaining for endothelial cells with factor VIII-related antigen. The main outcome measure was the presence of CGS-1 positively stained cells or areas of the extracellular matrix. Staining of CGS-1 was scored on a scale from 0 to 3. RESULTS: Fourteen of 15 neovascular membranes stained strongly with CGS-1 (score 2 or 3). One membrane from a patient with pathologic myopia was negatively stained (score 0). CGS-1 positive staining was detected around endothelial cells and in the extracellular matrix of CNVMs. The retina of eyes without choroidal neovascularization was negative with CGS-1 in all eight donor eyes, while the choroid contained some weakly CGS-1 positive cells (score 0 and 1, respectively). CONCLUSIONS: The extradomain B is abundantly expressed in CNVMs, but its expression is more restricted in eyes harboring no apparent choroidal neovascularization. In the future, B-FN might serve as a target for the delivery of antibody-photosensitizer immunoconjugates to newly developed vessels to enhance the selectivity of photodynamic therapy.

Adult↗

PubMed2003

Severe proliferative retinopathy progressing to blindness in a japanese woman with takayasu disease.

PURPOSE: To report a patient with Takayasu disease with severe proliferative retinopathy progressing to bilateral blindness. A 57-year-old Japanese woman suffering from Takayasu disease for 16 years manifested severe proliferative retinopathy in both eyes, leading to blindness due to optic atrophy. DESIGN: Interventional case report. METHODS: A 57-year-old Japanese woman suffering from Takayasu disease for 16 years underwent a comprehensive opthalmologic examination. Panretinal photocoagulation and vitrectomy were performed on both eyes. SETTINGS: Institutional practice. RESULTS: At initial examination, the patient was found to have severe proliferative retinopathy with tractional retinal detachment in both eyes. The retinal detachments were repaired by the vitrectomy, however, the patient developed bilateral blindness due to optic atrophy. CONCLUSIONS: Patients with a long history of Takayasu disease can demonstrate severe proliferative retinopathy that may be resistant to photocoagulation and/or vitreous surgery. Ocular ischemia can lead to blindness from ischemic optic neuropathy.

Blindness↗

PubMed2004

Mechanism of topiramate-induced acute-onset myopia and angle closure glaucoma.

DESIGN: Interventional case report. METHODS: In an institutional practice setting, two women, aged 25 and 45, developed acute myopia after starting topiramate for epilepsy. One patient also developed bilateral angle closure glaucoma. RESULTS: Topiramate was discontinued. Anterior chamber shallowing was noted in both patients at presentation. Ultrasonography showed ciliochoroidal effusion. Baseline measurements of anterior chamber depth and lens thickness were obtained. CONCLUSIONS: Topiramate may be associated with ciliochoroidal effusion with forward displacement of the lens-iris diaphragm and anterior chamber shallowing, resulting in acute myopia and angle-closure glaucoma. Increased lens thickness contributes only minimally (9%-16%) to anterior chamber shallowing.

Acute Disease↗

PubMed2003

A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).

PURPOSE: To describe the clinical features of two affected members of an Iranian family with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) and to report their novel mutation in the PHOX2A/ARIX gene. DESIGN: Experimental study. METHODS SETTING: Institutional practice. patient population:Six members of an Iranian family with CFEOM underwent complete ocular examinations including assessment of ocular motility, visual acuity, slit-lamp biomicroscopy, tonometry, and ophthalmoscopy. EXPERIMENTAL PROCEDURE: Mutation analysis of the PHOX2A gene was performed using polymerase chain reaction amplification of the coding exons and direct sequencing of polymerase chain reaction products. MAIN OUTCOME MEASURE: Presence or absence of mutation in PHOX2A gene in two siblings with exotropia and recessive CFEOM. Exotropia and ptosis were corrected surgically in one of the two siblings. RESULTS: The two affected siblings had bilateral ptosis and exotropia and severe limitation of all extraocular movements. One patient underwent strabismus surgery and ptosis repair. PHOX2A mutation analysis revealed a novel nonsense mutation in exon 2 (439C-->T). Both parents and the unaffected siblings were heterozygous,and the two affected siblings were homozygous for this mutation. CONCLUSIONS: The 439C-->T mutation in this family changes a glutamine to a stop codon (Q90X) at the beginning of the PHOX2A homeodomain region. This is the fourth CFEOM2 mutation in PHOX2A and the first nonsense mutation to be identified. It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans.

Blepharoptosis↗

PubMed1995

Restoration and analysis of standing-up in complete paraplegia utilizing functional electrical stimulation.

OBJECTIVE: Restoration of stand-up motion in patients with complete paraplegia utilizing multichannel functional electrical stimulation, and analysis of the restored motion. DESIGN: Nonrandomized control trial. SETTING: General community, a referral center, institutional practice, and ambulatory care: PATIENTS: Twelve volunteer samples were used for the collection of normal data. Two complete paraplegics received treatment for the restoration of stand-up motion. MAIN OUTCOME MEASURES: The electromyogram, joint angle, and floor reaction force were investigated during standing-up with arms crossed in front of the chest, and hands-assisted standing-up using parallel bars. The maximum knee joint torque during standing-up without hands-assists was calculated using a three-segment link model. Standing-up motion in complete paraplegics was restored, and then analyzed using the three-dimensional floor reaction force and the hip, knee, and ankle angles. RESULTS: Main muscles used to stand up were the quadriceps, tibialis anterior, and paraspinal muscles. Hands-assists reduced the muscle activity and the vertical floor reaction force. Peak muscle activity was less during hands-assisted standing-up, except for the rectus femoris and the iliopsoas muscle. The maximum knee joint torque during standing-up was 1.6Nm/kg for both knees. Two complete paraplegics were able to stand up smoothly from a wheelchair based on stimulation data obtained from normal subjects. The characteristic pattern during standing-up was knee flexion preceding extension. CONCLUSION: Stand-up motion was restored utilizing electromyogram data and knee joint torque data from normal subjects.

Adult↗