OCT and IOP findings in a healthy worker cohort: results from a teleophthalmic study in occupational medicine.

PURPOSE: To avoid significant loss of vision in employees, the working population could be examined with ophthalmic methods as OCT and IOP measurement for detection of serious eye diseases. The value of "virtual eye clinics" in occupational preventive medicine has been previously shown. We used a telemedical approach to gather epidemiological information about prevalence of eye diseases such as glaucoma, ocular hypertension, hypertensive retinopathy, diabetic retinopathy, epiretinal membrane, AMD, adult vitelliform maculopathy, cystoid maculopathy, choroidal nevi, and macular drusen. METHODS: The study included 931 people ranging from age 39 to 65 years. Using a telemedical approach, all medical examinations and the ophthalmic examination were performed by a technician using an optical coherence tomography (SD-OCT) and a pulse air tonometer. The data were saved in the web-based patient chart MedStage® of the Talkingeyes® Collaboration Network. RESULTS: We found a high prevalence of eye diseases in a group representative for the working-age population by telemedical examination. 13.47% of the workers examined showed ocular findings necessitating treatment or control by an ophthalmologist, including ocular hypertension (5.7%), hypertensive retinopathy with loss of temporal retinal nerve fiber thickness (2.3%), epiretinal membrane (1.07%), glaucoma (0.97%), age-related macular degeneration and adult vitelliform maculopathy (0.53%), and diabetic retinopathy (0.2%). Two of the examined persons presented ocular findings requiring urgent treatment to prevent serious vision loss. CONCLUSION: Using a telemedical approach, we collected epidemiological information about prevalence of eye diseases in the working-age population. Virtual eye clinics in occupational preventive medicine are a useful method to improve sight and reduce vision loss of workers by reducing travel time and inconvenience associated with an in-person appointment with an ophthalmologist.

Histiocytic Ulcerative Colitis in an American Staffordshire Terrier.

A 9-year-old female American Staffordshire terrier was presented to a veterinary hospital with diarrhoea, severe prostration, hypothermia, dehydration and anaemia. The dog died 6 days after the first consultation. At necropsy examination the serosa of the large intestine showed a granular appearance and the mucosa was thickened, ulcerated and red, with prominent folding. Histological examination revealed marked inflammatory infiltration of macrophages into the mucosa and submucosa of the large intestine. These cells stained positively by the periodic acid-Schiff reaction. Immunohistochemistry showed marked presence of intracytoplasmic Escherichia coli in the macrophages. Bacteriological examination of intestinal sections yielded E. coli growth and the isolate displayed atypical characteristics when compared with strains associated with previously published cases of histiocytic ulcerative colitis (HUC). The molecular characterization showed that the isolate harboured none of the genes associated with enterotoxigenic E. coli strains and harboured only a limited number of genes associated with extra-intestinal pathotypes. Adherent and invasive E. coli are unlikely to have been involved in the pathogenesis of HUC in the present case. HUC is a rare disease with a predisposition for boxer dogs; however, sporadic occurrence in other breeds may occur. This is the first reported case of HUC in an American Staffordshire terrier.

High-energy x-ray Talbot-Lau radiography of a human knee.

We report on a radiographic measurement of an ex vivo human knee using a grating-based phase-contrast imaging setup and a medical x-ray tube at a tube voltage of 70 kV. The measurement has been carried out using a Talbot-Lau setup that is suitable to achieve a high visibility in the energy regime of medical imaging. In a medical reading by an experienced trauma surgeon signatures of chondrocalcinosis in the medial meniscus have been identified more evidently using the dark-field image in comparison to the conventional attenuation image. The analysis has been carried out at various dose levels down to 0.14 mGy measured as air kerma, which is a dose comparable to clinically used radiographic devices. The diagnosis has been confirmed by a histological analysis of the meniscus tissue. In the introduced high-frequency filtered phase-contrast image the anterior and posterior horn of the medial meniscus and the posterior cruciate ligament have also been visible. Furthermore, atherosclerotic plaque is visible in both imaging modalities, attenuation and dark-field, despite the presence of overlaying bone. This measurement, for the first time, proves the feasibility of Talbot-Lau x-ray imaging at high-energy spectra above 40 kVp and reasonable dose levels with regard to spacious and dense objects.

Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav 1.4 cause periodic paralysis.

Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 genetically identified HyperPP families in the Neuromuscular Centre Ulm and is therefore as frequent as I693T (13 families out of 14 HyperPP families) in Germany. Surprisingly, in 13 families, a known polymorphism S906T was also present. It was on the affected allele in at least 10 families compatible with a possible founder effect in central Europe. All affected members suffered from episodic weakness; myotonia was also common. Compared with I692M patients, I692M-S906T patients had longer weakness episodes, more affected muscles, CK elevation and presence of permanent weakness. Electrophysiological investigation showed that both mutants had incomplete slow inactivation and a hyperpolarizing shift of activation which contribute to membrane depolarization and weakness. Additionally, I692M-S906T significantly enhanced close-state fast inactivation compared with I692M alone, suggesting a higher proportion of inactivated I692M-S906T channels upon membrane depolarization which may facilitate the initiation of weakness episodes and therefore clinical manifestation. Our results suggest that polymorphism S906T has effects on the clinical phenotypic and electrophysiological severity of a novel borderline Nav 1.4 mutation I692M, making the borderline mutation fully penetrant.

[Recovery time as a potential new progression parameter for patients with advanced glaucomatous optic atrophy]. / Erholungszeit als potenzieller neuer Verlaufsparameter für Patienten mit fortgeschrittener glaukomatöser Optikusatrophie.

BACKGROUND: Functional tests in glaucoma diagnosis can monitor a potential perimetric progression. However white-on-white perimetry is limited in advanced glaucoma, whereas contrasts were detected reproducibly. Especially when stressing (i. e. adapting) the visual system, subsequent measurements yielded different results-the visual system needs a "recovery time". In the present study the recovery time was investigated in patients with advanced glaucoma. Additionally correlation analysis was done with standard perimetric parameters. MATERIAL AND METHODS: Temporal contrast sensitivity (TCS) and recovery time (RT) were measured using the Erlanger Flicker Test in 61 probands (15 normals, 25 primary open-angle glaucomas, 17 secondary open-angle glaucomas, 4 narrow-angle glaucoma). Additionally, ophthalmological examinations and perimetry (Octopus G1) was done. RESULTS: (1) TCS was significantly reduced in patients with advanced glaucoma (p < 0.001). (2) Test stimuli with 3 and 5 % contrast showed a large variability in contrast to higher contrasts (12 %, 25 %, 35 %). (3) RT12%, RT25% and RT35% were significantly prolonged in advanced glaucoma (p < 0.001). (4) RT25% correlated significantly with mean defect (p = 0.015). CONCLUSION: Recovery time seems to be a potential parameter in advanced glaucoma follow-up, as it is reproducible, independently of cataract and fixation.

Optimisation of image reconstruction for phase-contrast x-ray Talbot-Lau imaging with regard to mechanical robustness.

X-ray grating-based phase-contrast imaging opens new opportunities, inter alia, in medical imaging and non-destructive testing. Because, information about the attenuation properties and about the refractive properties of an object are gained simultaneously. Talbot-Lau imaging requires the knowledge of a reference or free-field image. The long-term stability of a Talbot-Lau interferometer is related to the time span of the validity of a measured reference image. It would be desirable to keep the validity of the reference image for a day or longer to improve feasibility of Talbot-Lau imaging. However, for example thermal and other long-term external influences result in drifting effects of the phase images. Therefore, phases are shifting over time and the reference image is not valid for long-term measurements. Thus, artifacts occur in differential phase-contrast images. We developed an algorithm to determine the differential phase-contrast image with the help of just one calibration image, which is valid for a long time-period. With the help of this algorithm, called phase-plane-fit method, it is possible to save measurement-time, as it is not necessary to take a reference image for each measurement. Additionally, transferring the interferometer technique from laboratory setups to conventional imaging systems the necessary rigidity of the system is difficult to achieve. Therefore, short-term effects like vibrations or distortions of the system lead to imperfections within the phase-stepping procedure. Consequently, artifacts occur in all three image modalities (differential phase-contrast image, attenuation image and dark-field image) of Talbot-Lau imaging. This is a problem with regard to the intended use of phase-contrast imaging for example in clinical routine or non-destructive testing. In this publication an algorithm of Vargas et al is applied and complemented to correct inaccurate phase-step positions with the help of a principal component analysis (PCA). Thus, it is possible to calculate the artifact free images. Subsequently, the whole algorithm is called PCA minimization algorithm.

Lung ventilation volumetry with same-breath acquisition of hyperpolarized gas and proton MRI.

The purpose of this work was to assess the reproducibility of percentage of ventilated lung volume (PV) measured from hyperpolarized (HP) (3)He and (1)H anatomical images acquired in the same breath-hold when compared with PV measured from (3)He and (1)H images from separate breath-holds. Volumetric (3)He ventilation and (1)H anatomical images of the same resolution were acquired during the same breath-hold. To assess reproducibility, this procedure was performed twice with a short gap between acquisitions. In addition, (1)H images were also acquired in a separate breath for comparison. PV ((3)He ventilated volume divided by (1)H total lung volume) was calculated using the single-breath-hold images (PV(single)) and the separate-breath-hold images (PV(separate)). Short-term reproducibility of PV measurement was assessed for both single- and separate-breath acquisitions. Dice similarity coefficients (DSCs) were calculated to quantify spatial overlap between (3)He and (1)H segmentations for the single- and separate-breath-hold acquisitions. The efficacy of using the separate-breath method combined with image registration was also assessed. The mean magnitude difference between the two sets of PV values (±standard deviation) was 1.49 ± 1.32% for PV(single) and 4.19 ± 4.10% for PV(separate), with a significant difference (p < 0.01). The mean magnitude difference between the two PV values for the registered separate-breath technique (PV(sep-registered)) was 2.27 ± 2.23%. Bland-Altman analysis showed that PV measured with single-breath acquisitions was more repeatable than PV measured with separate-breath acquisitions, regardless of image registration. DSC values were significantly greater (p < 0.01) for single-breath acquisition than for separate-breath acquisition. Acquisition of HP gas ventilation and (1)H anatomical images in a single breath-hold provides a more reproducible means of percentage lung ventilation volume measurement than the previously used separate-breath-hold scan approach, and reduces errors.

Contractile elements in muscular fascial tissue - implications for in-vitro contracture testing for malignant hyperthermia.

Malignant hyperthermia is a dreaded complication of general anaesthesia. Predisposed individuals can be identified using the standardised caffeine/halothane in-vitro contracture test on a surgically dissected skeletal muscle specimen. Skeletal muscle is composed of muscle fibres and interwoven fascial components. Several malignant hyperthermia-associated neuromuscular diseases are associated with an altered connective tissue composition. We analysed adjacent fascial components of skeletal muscle histologically and physiologically. We investigated whether the fascial tissue is sensitive to electrical or pharmacological stimulation in a way similar to the in-vitro contracture test for diagnosing malignant hyperthermia. Using immunohistochemical staining, α-smooth muscle actin-positive cells (myofibroblasts) were detected in the epi-, endo- and perimysium of human fascial tissue. Force measurements on isolated fascial strips after pharmacological challenge with mepyramin revealed that myofascial tissue is actively regulated by myofibroblasts, thereby influencing the biomechanical properties of skeletal muscle. Absence of electrical reactivity and insensitivity to caffeine and halothane suggests that, reassuringly, the malignant hyperthermia diagnostic in-vitro contracture test is not influenced by the muscular fascial tissue.

Prevention of neural tube defects by folic acid - awareness among women of childbearing age in Slovakia.

BACKGROUND: Folic acid deficiency plays a central role in the aetiology of many congenital anomalies including neural tube defects. Protective effect of folic acid on embryo may be acquired only if taken periconceptionally. OBJECTIVES: The aim of the study was to investigate the awareness about folic acid among women of childbearing age in Bratislava, Slovakia. METHODS: There were 130 respondents involved in the research (106 pregnant women, 24 female students of medical faculty). Using questionnaire we acquired following data: pregnancy details, interest in diet before and during pregnancy, recommendations regarding nutrition and supplementation pre- and post-conception, knowledge about folic and other acid in 2004 and 2009. RESULTS: More than half of the respondents knew the sources of folic acid. The interest in the nutrition facts of the food dropped from 91 % to 58.5 %. The number of pregnant women advised about correct nutrition and folic acid supplementation before and during pregnancy increased from 16 % to 37 %. Planning the next gravidity with folic acid supplementation became greater than 21 % (38 % in 2009). Nevertheless, only 46 % of these women believed that proper food content with folic acid may prevent congenital anomalies. In a group of students planning to take folic acid periconceptionally the number raised up to 62.5 %. CONCLUSION: The results revealed low knowledge about the effect of folic acid on developing embryo among women of childbearing age. Effective intervention programs are needed with the aim to improve periconceptional intake of folic acid in 2004 and 2009. The results in both periods show low knowledge about this essential vitamin (Tab. 1, Fig. 8, Ref. 31).

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

This exploratory study aims to create an evidence-based comprehensive characterization of hyperkalemic periodic paralysis (hyperPP). HyperPP is a rare genetic disorder that causes episodes of flaccid paralysis. Disease descriptions in the literature are based upon isolated clinical encounters and case reports. We describe the experience of a large cohort of genetically diagnosed individuals with hyperPP. We surveyed genetically characterized individuals age 18 and over to assess disease comorbidities, diagnostic testing, management, and quality of life issues relevant to hyperPP. Myotonia was reported by 55.8 % of subjects and paramyotonia by 45.3 %. There is a relative risk of 3.6 (p < 0.0001) for thyroid dysfunction compared to the general population. Twenty-five percent of subjects experienced their sentinel attack in the second decade of life. It took an average of 19.4 years and visits to four physicians to arrive at the diagnosis of hyperPP. In addition to limbs and hands being affected during attacks, 26.1 % of subjects reported their breathing musculature was affected and 62.0 % reported their facial muscles were affected. There was a lifelong trend of increasing attack frequency, which was particularly common during childhood and adolescence. Approximately one-third of individuals experienced progressive myopathy. Permanent muscle weakness was evident and worsened during childhood and after age 40. Those with no chronic treatment regimen have a RR of 2.3 for inadequate disease control compared to those taking long-term medications. This study revealed a multitude of heretofore unidentified characteristics of hyperPP, in addition to providing a different perspective on some previously held notions regarding the condition.

In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.

BACKGROUND: A common form of congenital myotonia, myotonia congenita (MC), is caused by mutations in the skeletal muscle Cl(-) channel gene type 1 (CLCN1). Due to the reduced Cl(-) conductance of the mutated channels, the patients may develop generalized muscle rigidity and hypermetabolism during general anaesthesia. The clinical symptoms resemble malignant hyperthermia (MH), which may lead to mistreatment of the patient. METHODS: Muscle specimens of ADR mice (an animal model of MC) as well as of human individuals were used and exposed to potent ryanodine receptor type 1 (RyR1) activators and increasing K(+) concentration. Muscle force was monitored by a standardized diagnostic method for MH, the so-called in vitro contracture test. RESULTS: Neither muscle of ADR mice nor MC muscle (murine and human myotonic muscle) showed pathological contractures after exposure to the potent RyR1 agonists caffeine and halothane. Increasing concentrations of K(+) had a dose-dependent preventive effect on myotonic stiffness. CONCLUSION: We conclude that the adverse anaesthetic MH-like episodes observed in MC patients do not primarily originate from an altered Ca(2+) release in skeletal muscle. In MC muscle, this hypermetabolism is facilitated by a (pharmacologically induced) sustained depolarization due to an instable membrane potential. The in vitro results suggest that these patients benefit from tight K(+) monitoring because of the membrane potential stabilizing effect of K(+) .

Laparoscopic cholecystectomy in children.

UNLABELLED: In 95 children (age 6-18 y) treated for gallstones between 2002-2010, 95 laparoscopic cholecystectomies were carried out. Symptomatic cholecystolithiasis was the indication for laparoscopic cholecystectomy in most of the cases. In three patients, there was a conversion to open cholecystectomy. Postoperative complications due to failure of bile drainage arose in three patients. Restored bile drainage was secured for two biliodigestive anastomosis. Bile leak in a third patient solved a temporary biliary stent. Laparoscopic cholecystectomy is the gold standard for gallstones (Ref. 8). KEYWORDS: gallstones, laparoscopic cholecystectomy, cholecystolithiasis, bile drainage.

Omphalocele with ectopic liver forming a mesodermal cyst.

BACKGROUND: Congenital anomalies of the abdominal wall are classified as anomalies with the abdominal wall defect (omphalocele, gastroschisis) and without the defect (umbilical hernia, persistent ductus omphaloentericus or urachus). Clinical presentations of these conditions are different, and so is the timing of surgical intervention and approach with or without the exploration of the peritoneal cavity. CASE: The presented case report refers to a rare finding of ectopic liver forming mesodermal cyst within the umbilical region. Full term neonate girl with 5 cm spheroid tumor in umbilicus was otherwise without problems. Ultrasonography (USG) of the lesion detected a tissue with good vascularization and a cystic cavity. There was no flow in the umbilical vessels and no evidence of intestinal loop in the sac. USG of the liver was normal. During surgery an additional narrow canaliculus was identified connecting the spheroid along with umbilical vessels to the liver. The whole spheroid together with the canaliculus was surgically removed without exploration of the abdominal cavity. Histological evaluation of the surgical specimen discovered liver tissue with a mesodermal cyst in the center. The sphere was connected to the liver by a bile duct. Six months after the operation the child is in a good clinical condition. CONCLUSION: In conclusion omphalocele may contain liver. Ectopic liver is an extremely rare condition. Surgical treatment in the presented case focused only on umbilicus without exploration of the abdominal cavity and appeared to be sufficient. Long-term postoperative follow up typical in pediatrics will be applied also in this patient (Fig. 3, Ref. 25).

MiR-130a, miR-203 and miR-205 jointly repress key oncogenic pathways and are downregulated in prostate carcinoma.

With ∼30 000 deaths annually in the United States, prostate cancer (PCa) is a major oncologic disease. Here we show that the microRNAs miR-130a, miR-203 and miR-205 jointly interfere with the two major oncogenic pathways in prostate carcinoma and are downregulated in cancer tissue. Using transcriptomics we show that the microRNAs repress several gene products known to be overexpressed in this cancer. Argonaute 2 (AGO2) co-immunoprecipitation, reporter assays and western blot analysis demonstrate that the microRNAs directly target several components of the mitogen-activated protein kinase (MAPK) and androgen receptor (AR) signaling pathways, among those several AR coregulators and HRAS (Harvey rat sarcoma viral oncogene homolog), and repress signaling activity. Both pathways are central for the development of the primary tumor and in particular the progression to its incurable castration-resistant form. Reconstitution of the microRNAs in LNCaP PCa cells induce morphological changes, which resemble the effect of androgen deprivation, and jointly impair tumor cell growth by induction of apoptosis and cell cycle arrest. We therefore propose that these microRNAs jointly act as tumor suppressors in prostate carcinoma and might interfere with progression to castration resistance.

Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration.

To assess the presence and persistence of muscular edema and increased myoplasmic sodium (Na(+)) concentration in Duchenne muscular dystrophy (DMD). We examined eight DMD patients (mean age 9.5 ± 5.4 years) and eight volunteers (mean age 9.5 ± 3.2 years) with 3-tesla proton ((1)H) and (23)Na density-adapted 3D-radial MR sequences. Seven DMD patients were re-examined about 7 months later without change of therapy. The eighth DMD patient was re-examined after 5 and 11 months under medication with eplerenone. We quantified muscle edema on STIR images with background noise as reference and fatty degeneration on T1-weighted images using subcutaneous fat as reference. Na(+) was quantified by a muscular tissue Na(+) concentration (TSC) sequence employing a reference containing 51.3 mM Na(+) with 5 % agarose. With an inversion-recovery (IR) sequence, we determined mainly the myoplasmic Na(+). The normalized muscular (23)Na IR signal intensity was higher in DMD than in volunteers (n = 8, 0.75 ± 0.07 vs. 0.50 ± 0.05, p < 0.001) and persisted at second measurement (n = 7, 1st 0.75 ± 0.07, 2nd 0.73 ± 0.06, p = 0.50). When compared to volunteers (25.6 ± 2.0 mmol/l), TSC was markedly increased in DMD (38.0 ± 5.9 mmol/l, p < 0.001) and remained constant (n = 7, 1st 37.9 ± 6.4 mmol/l, 2nd 37.0 ± 4.0 mmol/l, p = 0.49). Muscular edema (15.6 ± 3.5 vs. 6.9 ± 0.7, p < 0.001) and fat content (0.48 ± 0.08 vs. 0.38 ± 0.01, p = 0.003) were elevated in DMD when compared to volunteers. This could also be confirmed during follow-up (n = 7, p = 0.91, p = 0.12). Eplerenone slightly improved muscle strength and reduced muscular sodium and edema. The permanent muscular Na(+) overload in all DMD patients is likely osmotically relevant and responsible for the persisting, mainly intracellular muscle edema that may contribute to the progressive muscle degeneration.

Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human VANGL1 gene have been described in a small subset of patients with NTDs. We performed a VANGL1 mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613G>A (p.Gly205Arg) with an open spina bifida (lumbosacral meningomyelocele), c.557G>A (p.Arg186His) with a closed spina bifida (tethered cord and spinal lipoma) and c.518G>A (p.Arg173His) with an unknown NTD. The c.613G>A mutation was also found in a healthy sibling. None of the mutations were described previously. Findings support that heterozygous VANGL1 mutations represent hypomorphs or conditional mutants predisposing to NTDs and occur at a frequency of approximately 2.1% of open and closed spinal NTDs. The mutations (p.Arg173His, p.Arg186His, p.Gly205Arg) modified conserved regions of the VANGL1 protein and shared similarities with previously described mutants, providing further evidence for the presence of mutational hot spots in these patients.

Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy.

OBJECTIVE: In boys with Duchenne muscular dystrophy (DMD), (1)H MRI suggested muscular edema before fatty degeneration. Using specific (23)Na MRI sequences, we tested the hypothesis that the edema is caused by an osmotic effect due to increased myoplasmic Na(+) content rather than inflammation that would lead to extracellular edema. METHODS: Eleven patients with DMD (mean age, 10 ± 5 years) and 16 healthy volunteers of similar age were examined on a 3-T system with (1)H MRI and (23)Na density-adapted 3-dimensional radial MRI sequences. The muscle edema was quantified on short-tau inversion recovery images using background noise as reference. Fatty degeneration was quantified on T1-weighted images using subcutaneous fat as reference. Na(+) was quantified by a muscular tissue sodium concentration (TSC) sequence. A novel inversion recovery (IR) sequence allowed us to determine mainly the myoplasmic Na(+) by suppression of the extracellular (23)Na signal from vasogenic edema. A reference tube containing 51.3 mmol/L Na(+) with agarose gel was used for standardization. RESULTS: The normalized muscular signal intensity of (23)Na as assessed by the IR sequence was significantly higher for patients with DMD than for volunteers. TSC was markedly increased at 38.4 ± 6.8 mmol/L in patients with DMD compared with 25.4 ± 2.1 mmol/L in volunteers. The muscular edema-like changes were much more prominent in patients with DMD than in volunteers. In addition, the muscular fat content was significantly higher in patients with DMD than in volunteers. CONCLUSIONS: The elevated myoplasmic Na(+) concentration in DMD is osmotically relevant and causes a mainly intracellular muscle edema that contributes to the pathogenesis of DMD.

A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exercise-induced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis. It is best described by a combination of potassium-aggravated myotonia and hyperkalemic periodic paralysis. We excluded exonic chloride channel mutations including CLCN1 exon deletion/duplication by MLPA. Instead we identified a novel p.N440K sodium channel mutation that is located at the inner end of segment S6 of repeat I. We discuss the genotype phenotype relation.

Objective visual field determination in forensic ophthalmology with an optimized 4-channel multifocal VEP perimetry system: a case report of a patient with retinitis pigmentosa.

We present the case of a 59-year-old male patient with progressive vision impairment and consecutive visual field narrowing ("tunnel view") for 7 years and a known retinitis pigmentosa for 5 years. The remaining Goldmann perimetric visual field at time reported was less than 5°. A request for blindness-related social benefits was rejected because an ophthalmologic expert assessment suggested malingering. This prompted us to assess an objective determination of the visual field using multifocal VEPs. Objective visual field recordings were performed with a four-channel multifocal VEP-perimeter using 58 stimulus fields (pattern reversal dartboard stimulus configuration). The correlated signal data were processed using an off-line method. At each field, the recording from the channel with the maximal signal-to-noise ratio (SNR) was retained, thus resulting in an SNR optimized virtual recording. Analysis of VEP signals was performed for each single field and concentric rings and compared to an average response measured in five healthy subjects. Substantial VEP responses could be identified in three fields within the innermost ring (eccentricity, 1.7°) for both eyes, although SNR was generally low. More eccentric stimuli did not elicit reliable VEP responses. The mfVEP recording was correlated with perimetric visual field data. The current SNR optimization by using the channel with the largest SNR provides a good method to extract useful data from recordings and may be appropriate for the use in forensic ophthalmology.

[Epidemiology of neural tube defects]. / Epidemiológia defektov neurálnej rúry.

INTRODUCTION: Neural tube defects represent group of congenital diseases with relatively high incidence in population. Authors assess world and Slovak literature and statistical facts about the epidemiology of NTD and compare them with their own results of retrospective study performed in Children's Hospital, Bratislava. MATERIALS AND METHODS: List of patients consists of 250 children (106 boys, 144 girls): X-ray images showing lumbo-sacral part of vertebral column were evaluated retrospectively (X-ray of native abdomen, urological tract or skeleton). Authors assessed presence or non-presence of spina bifida on images, without relation to age, gender or diagnosis of patients. RESULTS: From the total number of 250 radiograms, 72 findings were positive (36 boys and 36 girls), 160 images were negative, 18 were unsuitable for evaluation due to low image quality. The highest diagnostic capture was from urological images - 40% of all positive findings. Incidence of spina bifida in Children's Hospital concluded from X-ray images is quite high - 28.8%. CONCLUSION: According to the data from National Centre of Health Statistics the incidence of open caudal neural tube defects in Slovakia is under 5 per 10 000 live-born children at present time. However the occurrence of occult spina bifida is not known exactly. The high rate of spina bifida presented herein (28%) can be caused by relatively low number of evaluated radiograms. Also the fact that children were not only healthy ones and data were obtained from the western part of Slovakia as well. In conclusion we can say that after accidental finding of caudal neural tube defect consecutive diagnostics should be performed in clinical positive cases - genetics, MRI and consultation with specialists to decide for the optimal follow up of the patient.