Pattern electroretinography and visual evoked potentials in optic nerve diseases.

BACKGROUND: To evaluate transient pattern electroretinography (PERG) and pattern visual evoked potential (VEP) for the diagnosis, differential diagnosis and follow-up of optic nerve diseases. METHODS: Twenty-nine consecutive patients (14 female, 15 male) with the diagnosis of ischaemic optic neuropathy (n=14) and optic neuritis (n=15) were included in this study. Mean age of the patients with ischaemic optic neuropathy was 63.3+/-3.3 (60-78) years and the mean age of the patients with optic neuritis was 28.3+/-8.4 (19-43) years. In each patient ophthalmological examination and systemic evaluation were done and VEP and PERG were recorded. As a control group, VEP recordings of 35 healthy subjects were included. RESULTS: In the ischaemic optic neuropathy group (group 1), mean VEP amplitude (+/-SD) (1.96+/-0.95 microV) was found to be decreased significantly in the affected eyes in comparison to the control group and the unaffected eyes. The delay in latency (116.3+/-20.14 msec in the affected eyes compared with 101.31+/-6.19 msec in unaffected eyes) was statistically significant when compared with the healthy subjects. In the optic neuritis group (group 2), VEP amplitude was decreased (4.13+/-4.04 microV vs 6.97+/-3.35 microV and 6.97+/-4.43 microV) and latency was increased (122.59+/-20.09 msec vs 101.31+/-6.19 msec and 108.76+/-13.57 msec) in affected eyes significantly in comparison to the unaffected eyes and control group, respectively. Even though there were no significant differences for P50 latency and N95/P50 ratios between affected and unaffected eyes in both groups, N95 amplitude decreased significantly in the affected eyes of the ischaemic optic neuropathy patients and N95 latency was found to be decreased in optic neuritis patients. There was no correlation between VEP and PERG findings in both groups. CONCLUSION: VEP amplitude decreased significantly in ischaemic optic neuropathies while latency delay was more significant in patients with optic neuritis. PERG findings showed decreased N95 amplitude in ischemic optic neuropathy without associated latency changes.     

Rheumatoid arthritis and membranoproliferative glomerulonephritis: an unusual case

SUMMARY: Renal involvement is not uncommon in rheumatoid arthritis (RA). Many RA patients have renal dysfunction either secondary to the drugs used to treat arthritis or because of the chronic inflammation. Renal pathologies have often included amyloidosis, drug-related renal disease and mesangial glomerulonephritis. However, membranoproliferative glomerulonephritis has only been rarely reported. We report a case of rheumatoid arthritis associated with membranoproliferative glomerulonephritis that rapidly progressed to end-stage renal disease.     

Acute subdural hematoma: Outcome and outcome prediction

Patients with traumatic acute subdural hematoma were studied to determine the factors influencing outcome.Between January 1986 and August 1995, we collected 113 patients who underwent craniotomy for traumatic acute subdural hematoma. The relationship between initial clinical signs and the outcome 3 months after admission was studied retrospectively.Functional recovery was achieved in 38% of patients and the mortality was 60%. 91% of patients with a high Glasgow Coma Scale (GCS) score (9–15) and 23% of patients with a low GCS score (3–8) achieved functional recovery. All of 14 patients with a GCS score of 3 died. The mortality of patients with GCS scores of 4 and 5 was 95% to 75%, respectively. Patients over 61 years old had a mortality of 73% compared to 64% mortality for those aged 21–40 years. 97% of patients with bilateral unreactive pupil and 81% of patients with unilateral unreactive pupil died. The mortality rates of associated intracranial lesions were 91% in intracerebral hematoma, 87% in subarachnoid hemorrhage, 75% in contusion.Time from injury to surgical evacuation and type of surgical intervention did not affect mortality. Age and associated intracranial lesions were related to outcome. Severity of injury and pupillary response were the most important factors for predicting outcome.     

Serum anti-Müllerian hormone levels do not predict the efficiency of testicular sperm retrieval in men with non-obstructive azoospermia.

BACKGROUND: We aimed to determine whether serum concentrations of anti-Müllerian hormone (AMH) can be used as a tool for prediction of the efficacy of sperm retrieval. METHODS: This was a prospective cohort observational study. AMH levels were determined in 47 men presenting for infertility evaluation. Group 1 consisted of 24 infertile patients diagnosed with non-obstructive azoospermia. Group 1 was further divided into two subgroups. The patients with spermatozoa in their testicular samples constituted group 1a (n = 13), while the patients with absence of spermatozoa constituted group 1b (n = 11). Twenty-three normozoospermic fertile men constituted group 2. Serum AMH was measured before obtaining testicular specimens. RESULTS: Testicular spermatozoa were recovered in 13 out of the 24 patients (54%). Demographic characteristics of the three groups were similar. The difference between serum AMH levels among the three groups did not reach statistical significance. CONCLUSIONS: We speculated that although AMH is secreted predominantly into the seminiferous tubules, studying serum samples might be more advantageous than seminal plasma because the presence of seminal proteases could influence AMH levels in the latter. However, our results did not demonstrate differences in serum concentrations of AMH between the studied groups. Studies with extended patient populations focusing on seminal plasma concentrations of AMH are warranted.     

Lumbar intraradicular disc herniation: report of a rare and preoperatively unpredictable case and review of the literature.

BACKGROUND CONTEXT: Intraradicular lumbar disc herniation is rare, having been reported to date in only three postoperative patients. The diagnosis is typically made intraoperatively. PURPOSE: To report a fourth case of intraradicular disc herniation, to emphasize its radiological characteristics and operative findings. STUDY DESIGN: Case report. PATIENT SAMPLE: A 41-year-old female. METHODS: Retrospective case review. RESULTS: The patient underwent a second operation and intraradicular disc fragment was removed. She was completely well at her 9-month check up. CONCLUSIONS: The diagnosis, mechanism, and surgical treatment of intraradicular lumbar disc herniation are reviewed. The round shape of the sequestrated fragment, as seen on magnetic resonance imaging, may help to establish the correct diagnosis.     

A ligamentum flavum hematoma presenting as an L5 radiculopathy.

This study reports two patients with ligamentum flavum hematoma, of which only seven cases have been reported in the literature. Two elderly male patients (74 and 80 years) presented with a history of chronic lumbar strain and effort. They had low back pain radiating to both legs. Their neurologic examination findings were consistent with left L5 root compression. Magnetic resonance imaging showed an epidural mass lesion at L4-L5 that was continuous with the ligamentum flavum. After removal of the hematoma, the symptoms completely resolved. The most common cystic lesion in the lumbar spine is synovial cyst associated with the facet joints, but ligamentum flavum hematoma should be included in the differential diagnosis. The clinical, radiological and surgical features are described. Surgery should be the treatment of choice to resolve symptoms in ligamentum flavum hematoma.     

One-year follow-up results of combined use of CO<Subscript>2</Subscript> laser and cold instrumentation for Reinke’s edema surgery in professional voice users

The purpose of this study was to present our experience with combined use of CO₂ laser and cold instrumentation for Reinke’s edema surgery and to evaluate 1-year follow-up results of the technique in a series of professional voice users. Fifteen patients with Reinke’s edema who underwent microlaryngoscopic surgery were included. Videolaryngostroboscopy, perceptual and acoustic voice analyses were performed before and after surgery. During the 1-year follow-up, no recurrence of Reinke’s edema was encountered. Significant postoperative improvement was obtained in the quality of voice, in terms of GRBAS scores, Fo, jitter, shimmer and NHR. No evidence of laryngeal cancer was found on the histological examinations. Combined use of CO₂ laser and cold instrumentation provides a reliable and safe method for Reinke’s edema surgery, and cessation of smoking, voice rest and control of the laryngopharyngeal reflux contribute to the success of surgery. We consider that the removal of redundant mucosa of the vocal fold reduces the risk of the recurrence of Reinke’s edema and provides better quality of voice. However, it does not imply that our method is superior to others’, but this procedure constitutes an effective treatment of choice for Reinke’s edema patients, including professional voice users.     

Pattern-reversal electroretinograms and visual evoked potentials in branch retinal vein occlusion

We recorded pattern electroretinograms and visual evoked potentials in a group of selected patients with unilateral uncomplicated branch retinal vein occlusion. To document the effects of preexisting risk factors, patients were divided into three groups: diabetes mellitus, hypertension with hyperlipidemia and no systemic disease. The transient and steady-state pattern electroretinogram and visual evoked potential amplitudes were significantly reduced and visual evoked potential peak times were delayed relative to the fellow eyes and agematched normal subjects. There was a second amplitude reduction relative to the other patient groups in both the affected and fellow eyes of the diabetes mellitus group, which was indicative of an additive effect of diabetes mellitus.Abbreviations BRVO branch retinal vein occlusion     

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japan and the United States, and to date 34 different mutations have been described in 50 families worldwide. In the present study, we report ASS mutations detected in 35 additional CTLN1 families from 11 countries. By analyzing the entire coding sequence and the intron-exon boundaries of the ASS gene using RT-PCR and/or genomic DNA-PCR, we have identified 16 novel mutations (two different 1-bp deletions, a 67-bp insertion, and 13 missense) and have detected 12 known mutations. Altogether, 50 different mutations (seven deletion, three splice site, one duplication, two nonsense, and 37 missense) in 85 CTLN1 families were identified. On the basis of primary sequence comparisons with the crystal structure of E. coli ASS protein, it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein. It has been found that three mutations are particularly frequent: IVS6-2A>G in 23 families (Japan: 20 and Korea: three), G390R in 18 families (Turkey: six, U.S.: five, Spain: three, Israel: one, Austria: one, Canada: one, and Bolivia: one), and R304W in 10 families (Japan: nine and Turkey: one). Most mutations of the ASS gene are "private" and are distributed throughout the gene, except for exons 5 and 12-14. It seems that the clinical course of the patients with truncated mutations or the G390R mutation is early-onset/severe. The phenotype of the patients with certain missense mutations (G362V or W179R) is more late-onset/mild. Eight patients with R86H, A118T, R265H, or K310R mutations were adult/late-onset and four of them showed severe symptoms during pregnancy or postpartum. However, it is still difficult to prove the genotype-phenotype correlation, because many patients were compound heterozygotes (with two different mutations), lived in different environments at the time of diagnosis, and/or had several treatment regimes or various knowledge of the disease.     

Subcutaneous cryptococcosis due to Cryptococcus diffluens in a patient with sporotrichoid lesions case report, features of the case isolate and in vitro antifungal susceptibilities.

Environmental fungi, in particular primary pathogens and Cryptococcus spp. can be responsible for skin lesions mimicking sporotrichosis. In this paper, we report a case of subcutaneous cryptococcosis in an apparently healthy, young male patient due to a non-C. neoformans Cryptococcus species, C. diffluens. The isolate showed in vitro phenotypic switching that may affect virulence and host inflammatory and immune responses, and in vitro resistance to amphotericin B and 5-flucytosin. This species shares several phenotypic traits with C. neoformans, and, therefore, decisive diagnosis should be based on biopsy and culturing results followed by molecular identification.