Neovascular glaucoma after bypass surgery in Takayasu's disease.
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Adult↗
Biomedical subjects
S Gerber
Publications and source records attributed to S Gerber.
A comparison of forearm and thumb muscle electromyographic responses to the use of laparoscopic instruments with either a finger grasp or a palm grasp.
Laparoscopic techniques allow for less-invasive treatment of common surgical problems. Laparoscopic instruments are different from standard surgical instruments and generally incorporate a pistol-grip handle configuration with rings for the fingers. This handle configuration has been reported as being uncomfortable, leading to finger compression neuropathies in some cases. As an alternative, the surgeon can choose to grasp laparoscopic instruments using a more powerful palm grip during grasping motions. This study evaluates the hypothesis that the use of the palm grip requires less muscle tension than the finger-grip when grasping with laparoscopic instruments. Nine general surgeons used an Autosuture laparoscopic grasper with a ringed pistol-grip handle held in both a finger-in-ring (F) or palm (P) hand grip position to grasp and close two spring-loaded metal plates. The same task was performed with a surgical haemostat clamp (H) for comparison. Each subject performed the grasping task in a random sequence for the three instrument configurations at two grasping forces levels (0.7 and 4.2 N), and with the instrument at three angles to the subjects' sagittal plane (0 degree, 45 degrees and 90 degrees). Surface electromyographic (EMG) signals were acquired from the flexor carpi ulnaris (FCU), flexor digitorum profundus (FDP), flexor digitorum superficialis (FDS), extensor carpi ulnaris (ECU), extensor digitorum comunis (EDC) and the thenar compartment (TH). The peak root mean squared (RMS) EMG voltage was averaged for five repetitions at each instrument, force and angle condition. Statistical analysis was carried out by repeated measures ANOVA. The muscle EMG RMS amplitude while using the palm grip was decreased in the FDS, TH and EDC, was unchanged in the ECU and FCU, and was slightly higher in the FDP when compared with the finger grip. These differences were most prominent at 90 degrees to the sagittal plane where the subjects' wrists neared maximal flexion. It is concluded that the palm grip is more powerful than the finger grip when grasping with laparoscopic instruments, particularly at angles perpendicular to the surgeon's sagittal plane.
Electromyography↗
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral uncontrollable ocular oscillations, with onset typically at birth or within the first few months of life. This condition is regarded as idiopathic, after exclusion of nervous and ocular diseases. X-linked, autosomal dominant, and autosomal recessive modes of inheritance have been reported, but X-linked inheritance is probably the most common. In this article, we report the mapping of a gene for X-linked dominant CN (NYS1) to the short arm of chromosome X, by showing close linkage of NYS1 to polymorphic markers on chromosome Xp11.4-p11.3 (maximum LOD score of 3.20, over locus DXS993). Because no candidate gene, by virtue of its function, has been found in this region of chromosome Xp, further studies are required, to reduce the genetic interval encompassing the NYS1 gene. It is hoped that the complete gene characterization will address the complex pathophysiology of CN.
Child↗
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
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Blindness↗
[Maternal and neonatal prognosis after a prolonged second stage of labor].
The purpose of this study was to evaluate the neonatal and maternal outcome after a prolonged second stage of labor. We compared a study group of 751 women, who delivered after a prolonged second stage (mean: 189 minutes) with a control group of 5241 women, who delivered spontaneously after a short second stage (mean: 19 minutes). In the study group different factors were significantly associated with a prolonged second stage: primiparity, higher birth weight and occiput posterior position. If no arbitrary limit for the second stage of labor is used, the presentation will progress in 70% of cases and 90% of women will delivery vaginally. The high rate forceps delivery slightly increases maternal morbidity. In spite of lower umbilical pH and five-minute Apgar scores, neonatal morbidity and mortality were not increased.
Adult↗
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
PURPOSE: To report the ophthalmologic features of a novel truncating mutation in the ABCR gene in a patient affected with late-onset fundus flavimaculatus (FFM). METHODS: A complete ophthalmologic examination was performed in a 70-year-old patient, including best-corrected visual acuity measurement, slit lamp and fundus examination, fundus photographs, frequent fluorescein and indocyanine green angiographies, visual field testing, color vision analysis, electroretinogram, and electro-oculogram. The 50 exons of the ABCR gene were analyzed using direct sequencing. RESULTS: Fluorescein and indocyanine green angiographies confirmed the diagnosis of FFM. A heterozygous base change was found, resulting in the substitution of an arginine to a stop at codon 152 of the ABCR gene. CONCLUSIONS: A heterozygous nonsense ABCR gene mutation was found in a patient affected with FFM. No other mutation has been identified in the entire coding sequence and the promoter region, suggesting that a heterozygous severe ABCR mutant may be responsible for a mild and delayed FFM phenotype, different from that of age-related macular degeneration.
ATP-Binding Cassette Transporters↗
[Menorrhagia, hypermenorrhea and disorders of hemostasis].
Menorrhagia is a common clinical problem. About 10% of women aged between 30 and 49 take medical advice for abnormal uterine bleeding. Underlying bleeding disorders are found in about 20% of women, once pelvic abnormalities are excluded. It is important to characterize a bleeding disorder since specific treatments can be provided. Moreover, these women are susceptible to present other haemorrhagic complications, particularly in case of invasive procedures. This review aims at drawing the attention a) on the importance of a careful medical history to assess menorrhagia and a possible bleeding disorder, b) on von Willebrand disease, the main coagulation disorder involved in case of menorrhagia and c) on several therapeutic possibilities.
Blood Coagulation Disorders↗
[Neurologic manifestations of Behçet's disease].
Neurological involvement in Behçet's disease, the cause of the disease's severe functional sequellae, is reported in 5.3 to 30% of cases. Coagulation disorders have been reported but they cannot explain the different thrombotic manifestations which are probably the consequence of an abnormal response of the vascular endothelial cells. Neurological manifestations include: a) dural sinus thrombosis which can be diagnosed by angio-MRI and whose prognosis is improved with the use of anticoagulants; b) exceptional lesions to arteries supplying the brain; c) aseptic meningitis and meningo-encephalitis; and d) exceptionally, solitary spinal cord involvement and peripheral disease. Neurological involvement can occur early or late after development of skin and mucosal signs and when inaugural make mislead diagnosis. The spinal tap usually gives objective evidence of lymphocyte meningitis. MRI is nonspecific, but the T2 and Flair sequences can evidence hypersignal areas, preferentially in the brain stem, basal nuclei, and subtentorial white matter with no preference for the periventricular regions. Spontaneous aggravation is the rule and the neurological prognosis is severe (dementia, pseudo-bulbar syndrome, loss of independence). Treatment is similar to that used for vasculitis and is aimed initially at reducing the inflammation with corticosteroids and at preventing relapse with the adjunction of an immunosuppressor. Results are better when treatment begins early; restitutio ad integrum has been observed. Duration of treatment is poorly defined: immunosuppressors have been proposed for a minimal duration of 2 years; corticosteroid therapy can be tapered off but interruption would expose to relapse. A maintenance therapy is advisable and, in our opinion, should be proposed indefinitely combining colchicine (1 to 2 mg/d), anti-aggregate doses of aspirin, and low-dose corticosteroids (1/10 mg/kg/d).
Behcet Syndrome↗
[Diffusion MRI and cerebral ischemia. When to calculate the coefficient of diffusion?].
INTRODUCTION: There are two types of diffusion images: so-called "diffusion-weighted" images (DWI) and apparent diffusion coefficient (ADC) images. For certain authors, ADC mapping is crucial for interpreting diffusion images while for others the ADC map adds no further sensitivity or specificity compared with diffusion weighted images. The objective of this work was to determine those situations where ADC mapping modifies image interpretation. MATERIAL AND METHODS: T2-weighted and diffusion-weighted (DIF) MRI sequences were acquired in 197 patients with suspected cerebral ischemia (< or = 48 hr). For each lesion (239 lesions in the 197 patients), we analyzed MRI interpretation with and without ADC mapping and compared the interpretations with the final diagnosis established on clinical data and complementary explorations. RESULTS: We observed 3 groups. In group A (36% of the lesions), ADC mapping did not change image interpretation. This group was subdivided into 3 subgroups. A1: T2 and DIF weighted images are normal: no lesions and normal ACD map (n = 38 patients); A2: High intensity signal on T2 and low intensity signal on DIF: ischemic sequelae, ADC always increased (n = 32 lesions); A3: T2 normal and high intensity signal on DIF: hyper acute ischemia and ADC always decreased (n = 16 patients) In group B (high intensity signal on T2 and DIF, 54.5% of the lesions), ADC mapping changed the MRI interpretation: there was acute ischemia if the ADC was decreased (n = 113) and "pseudo-ischemic" lesions if the ADC was normal or increased (n = 17 patients). Group C was comprised of 23 lesions with a false negative ADC (9.5%). These lesions were always small recent ischemic lesions (< or = 5 mm) with a high intensity signal on DIF and a strictly normal ADC map. CONCLUSION: ADC mapping was found to be useful in 54.5% of the lesions and should not be considered as solely a research tool but also as a useful tool for routine clinical practice.
Adult↗
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
Stargardt disease (STGD) is an autosomal recessive macular dystrophy of childhood characterised by bilateral loss of central vision over a period of several months. STGD has been mapped to chromosome 1p22.1 and recently ascribed to mutations in the retinal specific ATP binding transporter gene (ABCR). The fundus flavimaculatus with macular dystrophy (FFM), an autosomal recessive condition responsible for gradual loss of visual acuity in adulthood (second to third decade) has also been mapped to the same locus. However, a gene for autosomal recessive retinitis pigmentosa with distinctive features of choriocapillaris atrophy at an advanced stage (RP19) has been mapped to the genetic interval encompassing the STGD gene on chromosome 1p (D1S435-D1S236), raising the question of whether, despite striking differences in clinical course and presentation, RP19 and STGD might be allelic disorders at the ABCR locus. In a family segregating RP and STGD in two first cousins, we found that heterozygosity for a splicing mutation in the ABCR gene (1938-1 G-->A) resulted in STGD while hemizygosity for this splice mutation resulted in RP, and when studying the RP patient's parents, we found a maternal non-contribution with apparent segregation of a null allele ascribed to a partial deletion of the ABCR gene. The present study shows that, despite striking clinical differences, RP19 and STGD are allelic disorders at the ABCR locus.
ATP-Binding Cassette Transporters↗
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
Stargardt disease, an autosomal recessive macular dystrophy of childhood, leading to severe visual impairment, is caused by mutations in the retina-specific ATP binding transporter gene (ABCR). Previously, the ABCR cDNA and part of the exon-intron structure were described. We have determined the complete ABCR exon-intron structure by exon-exon PCR. The ABCR gene encompasses 50 exons, 29 of which are first described here with their corresponding intron-exon boundaries. The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease.
ATP-Binding Cassette Transporters↗
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.
Leber's congenital amaurosis (LCA) is the earliest and most severe of all inherited retinal dystrophies. Recently, we mapped an LCA gene to chromosome 17p13.1 (LCA1) and ascribed the disease to mutations of the retinal guanylate cyclase (ret GC) gene in a subset of families of North African ancestry. Owing to the genetic heterogeneity of LCA and considering that LCA1 results from an impaired production of cGMP in the retina (with permanent closure of cGMP-gated cation channels), we hypothesized that the activation of the cGMP phosphodiesterase (PDE) could trigger the disease by lowering the intracellular cGMP level in the retina. The rod and cone cGMP-PDE inhibitory subunits were regarded therefore as candidate genes in LCA. Here, we report the exclusion of five rod and cone cGMP-PDE subunits in LCA families unlinked to chromosome 17p13.
3',5'-Cyclic-GMP Phosphodiesterases↗
An ergonomic comparison of in-line vs pistol-grip handle configuration in a laparoscopic grasper.
BACKGROUND: Laparoscopic instruments incorporate both in-line and pistol-grip handle configurations, yet it is unclear which design is most advantageous for surgeons, particularly when operating at angles perpendicular to the surgeon's position. We present a detailed electromyographic (EMG) comparison of these handle configurations under different force and angle conditions. METHODS: Nine general surgeons used a Microsurge grasper with the handle in an in-line (MS-IL) and pistol (MS-PS) configuration, as well as a standard hemostat (HE), to grasp and close two spring-loaded metal plates. The task was performed randomly by each subject with the three instrument configurations at two forces levels (0.7 N, 4.2 N) and at three angles to the surgeons' body (0, 45, and 90 degrees). Surface EMG was measured from the flexor carpi ulnaris (FCU), flexor digitorum profundus (FDP), flexor digitorum superficialis (FDS), extensor carpi ulnaris (ECU), extensor digitorum comunis (EDC), and thenar compartment (TH). The peak root mean squared (RMS) EMG voltage was calculated for each instrument, force, and angle condition. Statistical comparison was carried out by ANOVA. RESULTS: Both laparoscopic handle configurations required significantly higher contractions of all muscle groups compared to the hemostat at the high force level. TH was not affected by laparoscopic handle configuration. MS-IL required higher FCU, ECU, and EDC contractions at 45 degrees compared to MS-PS. However, MS-IL decreased the flexor compartment muscle contractions (FDP, FDS, FCU) at 90 degrees compared to MS-PS. CONCLUSIONS: Laparoscopic grasping requires higher forearm and thumb muscle contractions compared to the use of a hemostat. The in-line handle configuration is no better than the pistol configuration except when grasping at 90 degrees to the surgeon, where rotation of the handle and wrist back toward the surgeon significantly decreases forearm flexor compartment muscle contractions.
Cumulative Trauma Disorders↗
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa.
Our purpose was to search for mutations in the apolipoprotein E (apoE) gene and to evaluate the role of apoE polymorphisms in the occurrence of autosomal dominant retinitis pigmentosa (ADRP). The ApoE gene coding sequence was analyzed in 51 unrelated patients affected with ADRP. A screening for mutations by SSCP and an analysis of the apoE polymorphisms were performed using PCR and restriction enzymatic digestion. No abnormal patterns of migration were observed by SSCP analysis. No significant statistical difference was seen between our ADRP population and the French general population for apoE allele frequency. From these results we report that the apoE gene does not seems to be involved in our ADRP population.
Apolipoproteins E↗
Sheehan's syndrome: differential diagnosis in the acute phase.
Many studies have been done in the later course of Sheehan's syndrome, but very few have documented the acute phase with clinical, endocrine and imaging data. We present the case of a young woman complaining of severe headache after delivery, who developed hypopituitarism. Magnetic resonance imaging (MRI) disclosed the presence of an enlarged non haemorrhagic pituitary gland. Follow-up MRI showed a spontaneous and rapid shrinkage of the pituitary, within 20 days, which appeared as an empty sella 3 months later. Sheehan's syndrome may initially closely mimic hypophysitis, or the necrosis of an adenoma. We discuss the differential diagnoses, important for the best therapeutic management.
Acute Disease↗
A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
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Amino Acid Sequence↗
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma.
Glutathione is a ubiquitous antioxidant in mammalian tissues. The first step of its synthesis is catalyzed by the glutamate-cysteine ligase (GLCL) which consists of a heavy, catalytic subunit and a light, regulatory subunit (GLCLR). Previous genetic analyses have revealed frequent losses of chromosome 1p22-->p21 in human malignant mesothelioma and the shortest region of overlapping deletions has been narrowed between the two loci D1S435 and D1S236. An expressed sequence tag of the GLCLR gene was found within a YAC contig encompassing the same interval aoffwas therefore considered as a good candidate gene for predisposition to human mesothelioma. We report here the characterization of the genomic structure of the GLCLR gene and the refine its physical mapping to chromosome 1p22.1.
Base Sequence↗
Pressure transmission ratio: is it a reliable parameter in increased urethro-vesical junction mobility?
Our objective was to investigate any correlation between the degree of urethro-vesical junction (UVJ) mobility and the pressure transmission ratio (PTR) values. Five hundred and nineteen patients suffering from stress urinary incontinence were divided into four groups according to their degree of UVJ mobility assessed by the Q-tip test method: group 1 (N = 86), urethral axis at stress (UAS) < 30 degrees; group 2 (N = 191), UAS 31-60 degrees; group 3 (N = 214), UAS 61-90 degrees; and group 4 (N = 28), UAS > 90 degrees. A urethral pressure profile at stress was determined in the supine and standing positions, and PTR was calculated in the middle region of urethral functional length. PTR values for groups 2-4 were compared with those for group 1. In the supine position, the values for groups 3 and 4 were lower than for group 1, while in the standing position, only the values for group 3 were different. The incidence of normal PTR values (i.e., > 90%) was the same in all four groups. Overall correlation between PTR values and degree of UVJ mobility was weak (r = 0.14). We conclude that PTR values does not correlate with UVJ mobility in those patients with a Q-tip test of < 60 degrees. This correlation is inconstant when the Q-tip test was > 60 degrees. Also, 14-30% of patients in all four groups had normal standing PTR values. This may be explained by well-preserved innervation with severe alteration of the anchoring bladder neck structures.
Adult↗