Miracle-dz/UniFAR-FTUs huggingface dataset:
An insertion‐deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma

ALA-PDT had a significant improvement in the regional HS scores on follow-up, and two patients showed deterioration. The mean regional scores before treatment and at 8-week follow-up were 17Æ8 and 23Æ3, respectively. All four patients reported burning and stinging following each treatment, lasting for several days. One of our patients was treated with a broadband source and will consequently have received significantly less radiation at 633 nm than the patients treated with the diode laser. Nevertheless, the three patients treated with the diode laser also failed to respond to the treatment. The selective accumulation of protoporphyrin IX in the hair follicle epithelium after topical application of ALA, followed by light exposure, in theory offers a method of selectively treating hypertrophic follicular epithelium that produces follicular plugging. Unfortunately, the beneficial effects of ALAPDT seen in acne therapy could not be reproduced in our group with HS. There may be various reasons for this. First, it is possible that the effect ALA-PDT had in patients with acne is caused mainly by a reduction in the number of bacteria and in sebum production and that the effect on follicular epithelium is less important. Sebum production in HS has been found to be normal and the role of bacteria in the pathogenesis of HS is controversial, with cultures from superficial early lesions frequently being negative. Another possible explanation for the failure of our patients to respond may be that in long-standing HS a more severe disruption of the skin architecture occurs, with permanent and deep scarring, making penetration of the ALA very difficult. Fluorescence microscopy on a biopsy after application of ALA, looking for photoactivated porphyrins, might have established whether porphyrins actually did penetrate into deep abscesses and fistulas. Recently, in a study on ALA-PDT treatment in patients with HS of the axilla and groin using blue light (407–420 nm range), Gold et al. reported an improvement of 75–100% in four patients. Exposure time to ALA in their patients was 30 min, and treatment was reported to have been pain-free in all patients. These results are somewhat surprising, as blue light penetrates only to a depth of around 1–2 mm, and HS, apart from the initial stages, certainly involves deeper lesions. The short exposure time to ALA also raises the question as to whether sufficient ALA could be absorbed to lead to a therapeutic effect. In addition, no information was given in this study regarding either the fluence of blue light applied or outcome measures assessed. Nevertheless, these positive results may encourage further research in this field, as patients with HS might still benefit from PDT, although using parameters different from the ones used in our study.
T-duality of the Green-Schwarz superstring

We study T-duality in the Green-Schwarz formalism to all orders in superspace coordinates. We find two analogs of Buscher rules for the supervielbein and clarify their meaning from the superstring point of view. The transformation rules for the dilaton, spin 1/2 fermions and Ramond-Ramond superfields are also derived.
Screening early renal failure: cut-off values for serum creatinine as an indicator of renal impairment.

BACKGROUND The aim of this study was to define cut-off values for serum creatinine as an indicator of several levels of renal impairment. METHODS To identify the suitable values, receiver operating characteristic curves were constructed based on the data of 984 laboratory assessments of renal function. The glomerular filtration rate was measured with inulin clearance. Three levels of renal impairment were analyzed. An index that gave the same weight to false positive and false negative results was used to determine the thresholds. Robustness of the results was tested using a "bootstrap" technique. RESULTS Considering an inulin clearance of less than 80 ml/min/1.73 m2, the cut-off value for serum creatinine was 11.5 mumol/liter for men and 90 mumol/liter for women. The cut-off value for a clearance of less than 60 ml/min/1.73 m2 was 137 mumol/liter for men and 104 mumol/liter for women. For a clearance of less than 30 ml/min/1.73 m2, the cut-off value was 177 mumol/liter for men and 146 mumol/liter for women. CONCLUSION This method is useful to determine a cut-off value for serum creatinine in epidemiological studies concerning early chronic renal failure screening. The value of the glomerular filtration rate of reference and the weight of false positive and false negative results have to be adapted to the aim of the individual study design.
MS disease activity in RESTORE

Objective: RESTORE was a randomized, partially placebo-controlled exploratory study evaluating multiple sclerosis (MS) disease activity during a 24-week interruption of natalizumab. Methods: Eligible patients were relapse-free through the prior year on natalizumab and had no gadolinium-enhancing lesions on screening brain MRI. Patients were randomized 1:1:2 to continue natalizumab, to switch to placebo, or to receive alternative immunomodulatory therapy (other therapies: IM interferon β-1a [IM IFN-β-1a], glatiramer acetate [GA], or methylprednisolone [MP]). During the 24-week randomized treatment period, patients underwent clinical and MRI assessments every 4 weeks. Results: Patients (n = 175) were randomized to natalizumab (n = 45), placebo (n = 42), or other therapies (n = 88: IM IFN-β-1a, n = 17; GA, n = 17; MP, n = 54). Of 167 patients evaluable for efficacy, 49 (29%) had MRI disease activity recurrence: 0/45 (0%) natalizumab, 19/41 (46%) placebo, 1/14 (7%) IM IFN-β-1a, 8/15 (53%) GA, and 21/52 (40%) MP. Relapse occurred in 4% of natalizumab patients and in 15%–29% of patients in the other treatment arms. MRI disease activity recurred starting at 12 weeks (n = 3 at week 12) while relapses were reported as early as 4–8 weeks (n = 2 in weeks 4–8) after the last natalizumab dose. Overall, 50/167 patients (30%), all in placebo or other-therapies groups, restarted natalizumab early because of disease activity. Conclusions: MRI and clinical disease activity recurred in some patients during natalizumab interruption, despite use of other therapies. Classification of evidence: This study provides Class II evidence that for patients with MS taking natalizumab who are relapse-free for 1 year, stopping natalizumab increases the risk of MS relapse or MRI disease activity as compared with continuing natalizumab.
Auditory P300 in patients with bipolar disorder and their unaffected relatives.

OBJECTIVES There is evidence that genetic susceptibility may be shared between bipolar disorder (BD) and schizophrenia, but electrophysiological phenotypes which have been extensively used in studies of genetic susceptibility for schizophrenia remain far less explored in bipolar illness. This study assesses whether auditory P300 latency delays and amplitude reductions, which have been demonstrated in patients with schizophrenia and their unaffected first-degree relatives, are associated with familial liability to psychotic bipolar illness. METHODS The P300 auditory evoked potential was obtained using an oddball task from 37 participants with BD who had a history of psychotic symptoms, 38 of their unaffected first-degree relatives and 42 healthy unrelated comparison subjects. Patients and relatives came from families multiply affected with BD or another functional psychotic disorder. P300 amplitude and latency at midline sites were compared between the groups, using linear regression analyses and robust variance estimators for clustered data, including age and gender as covariates. RESULTS Bipolar disorder patients with a history of psychosis and their unaffected relatives showed significantly delayed P300 latency at Pz compared to controls. The groups did not differ in P300 amplitude. CONCLUSIONS P300 latency delays are associated with both psychotic BD and familial liability for this illness. Sample size limited our ability to test for multimodal distribution of P300 measures among relatives, which might be expected if only a subgroup inherits any deficits. In future it will be of interest to directly compare groups of families with psychotic and non-psychotic forms of BD to explore further the role of psychotic symptoms with regard to P300 measures in the disorder. Our results indicate that delayed P300 latency is a promising candidate endophenotype for psychotic BD, as well as schizophrenia, and may reflect the impact of shared susceptibility genes for both types of psychosis.
Nematode parasite populations in sheep on lowland farms V. Further observations on the post-parturient rise and a discussion of its significance

In a previous paper (Crofton, 1954) it was shown that the rise in egg counts occurring in ewe flocks in spring was related to the time of lambing. It was further shown that the rise in individuals occurred about 6 weeks after parturition and was normally of short duration. While the mean time of increased egg count for each individual was about 2 weeks, the increased egg count in the flock was spread over a period equivalent to the length of the lambing period. It is clear that the apparent rise in the flock as a whole will be greatest when all the flock lambs within a short period. With greater scatter of times of parturition the flock rise will be smaller but will extend over a greater period. This association of rise in egg count with time of parturition is obviously one of considerable selective advantage, in so far as an increase in infective stages will occur at a time when the susceptible lambs have a reduced milk intake and an increased grass intake. The synchronization of availability of infective stages and the occurrence of susceptible individuals is further emphasized by the relation of the period of increase to the time of birth of the lambs, the duration of the period of increase in the flock being directly proportional to the duration of the lambing period. This type of ‘escapement’ control is seen in so many other host-parasite relationships that it makes considerable appeal on general grounds. Other workers, Morgan, Parnell & Rayski (1951), have, however, related the rise in egg counts to climatological factors, but climatic control would not give the close synchronization described above.
A prospective study on sudden unexpected death in epilepsy

Sudden unexpected death accounts for a substantial portion of deaths among epileptics. The incidence of this phenomenon is probably 1 in 370 to 1 in 1,110 in the general epileptic population but may be even higher in the 20‐to 40‐year age group, and still higher if epileptics with symptomatic epilepsy are selected. Sudden unexpected death in epileptics has been observed at least once weekly by the Office of the Medical Examiner of Cook County (Chicago), Illinois, for many years. A year‐long prospective study revealed that victims of this complication of epilepsy are most commonly black males averaging 35 years of age who have infrequent generalized seizures and usually have some structural lesion in the brain responsible for their seizures. They tend to abuse alcohol and have poor compliance with anticonvulsant medication. The electroencephalograms display considerable variability from record to record. At autopsy the heart, lung, and liver weights were heavier and the brain weights were lighter than expected. The mechanisms involved in sudden unexpected death in epileptics may include autonomically mediated cardiac arrhythmia alone or in combination with sudden neurogenic pulmonary edema and “backward” cardiac failure.
A prospective pilot study on serum cleaved tau protein as a neurological marker in severe traumatic brain injury

Abstract Objective: Neurotrauma has been labelled as a “silent epidemic” affecting both the developed and the developing nations. To date, no single brain-specific biomarker has been unanimously accepted for routine clinical use in TBI. Our study aims to determine the correlation of “cleaved-tau protein” in severe traumatic brain injury (TBI) with Glasgow Coma Scale (GCS) at the time of admission, mode of injury, CT findings and outcome at discharge. Methods: The study has been approved by the institutional ethical committee. 40 cases with severe TBI and 40 randomly selected healthy controls were included in this prospective study. Venous blood samples were collected and serum cleaved tau protein levels were measured and correlated with gender, mode of injury, CT findings GCS score and GOS score at discharge. Results: In the severe TBI group, the mean serum cleaved tau protein levels in males were 91.65 ± 41.34 pg/ml (mean ± S.D.), and females were 104.43 ± 53.08 pg/ml (mean ± S.D.), (p = 0.27). Mean serum C-tau level in study group was 95.48 ± 44.87 pg/ml (range 36.44-192.34), 95% C.I. (81.13–109.83) and in controls was 33.82 ± 13.65 pg/ml (range 2.48–66.54), 95% C.I. (29.46–38.19) (p < 0.001). The distribution of serum C-tau was in severe TBI group varied in all categories of GCS at 0th day (p < 0.001). Serum cleaved tau protein levels in the good outcome group were 74.26 ± 25.43 pg/ml (mean ± S.D.), range 36.44–144.54, 95% C.I. (63.52-85.00) and the poor-outcome group were 127.32 ± 49.40 pg/ml, range 66.65–192.34, 95% C.I. (100.99-153.64) (p = 0.001). Conclusion: In severe TBI, serum cleaved tau protein levels were significantly higher as compared to the controls in this prospective study. However, results of this study are preliminary in nature and there is a need to undertake larger prospective studies to reach a definitive conclusion.
Plasma Lipolytic Activity: Relationship to Postheparin Lipolytic Activity and Evidence for Metabolic Regulation

Lipolytic activity was measured in human plasma without prior administration of intravenous heparin. Eluted from heparin-Sepharose in a barbital buffer containing 6 mg/ml heparin, plasma lipolytic activities in 20 subjects were distributed between hepatic triglyceride lipase (HTGL, mean ± SE 60.6 ± 4.6%) and extrahepatic lipoprotein lipase (LPL, 39.4 ± 4.6%). Confirmation of the identities of HTGL and LPL was provided by inhibitory antisera. Preheparin LPL activity was absent in plasma from a patient with type I hyperlipoproteinemia. Both preheparin HTGL and LPL activities correlated with the respective activities measured in plasma obtained 15 min after intravenous injection of heparin (rs = + .774 and +.685, respectively; n = 12). Evidence for the metabolic regulation of preheparin lipases was provided by measurement of significant increases in LPL and HTGL activities after oral glucose ingestion. Overall, preheparin plasma HTGL and LPL activities may reflect ongoing lipoprotein lipolytic activity in tissue beds, and because these measurements do not require the administration of intravenous heparin, they should prove useful for additional studies of short-term regulation of the lipases.
Localisation of RA175 (Cadm1), a cell adhesion molecule of the immunoglobulin superfamily, in the mouse testis, and analysis of male infertility in the RA175‐deficient mouse

RA175, a member of the immunoglobulin superfamily, plays an important role in cell adhesion, and RA175 gene‐deficient mice (RA175−/−) show oligoastheno‐teratozoospermia. To understand the function of RA175, location in the testis and the morphological features of its spermatogenic cells in RA175−/− mice were investigated. Immunohistochemical studies revealed that RA175 immunoreactivity was observed on the cell surface of the spermatogenic cells at specific stages. A strong reaction was detected from type A spermatogonia to pachytene spermatocytes at stage IV and from step 6 to step 16 spermatids during spermatogenesis. From pachytene spermatocytes at stage VI to step 4 spermatids, the reaction was not detected by the enzyme‐labelled antibody method and was faintly detected by the indirect immunofluorescence method. Abnormal vacuoles in the seminiferous epithelium, showing exfoliation of germ cells, and ultrastructural abnormality of the elongate spermatids were revealed in the RA175−/− testes. Other members of the immunoglobulin superfamily such as basigin, nectin‐2 and nectin‐3, which have an important role in spermatogenesis, were immunohistochemically detected in the RA175−/− testis. These observations indicate a unique expression pattern of RA175 in the testis and provide clues regarding the mechanism of male infertility in the testis.
Lesion distribution in children with clinically isolated syndromes

We evaluated the incidence, volume, and spatial distribution of T2‐weighted magnetic resonance imaging lesions in 58 children with clinically isolated syndromes at risk for multiple sclerosis compared with 58 adults with relapsing‐remitting multiple sclerosis. Pediatric patients with clinically isolated syndromes who had brain lesions had supratentorial lesion volumes similar to adult multiple sclerosis patients, but greater infratentorial lesion volumes (p < 0.009), particularly in the pons of male patients. The predilection for infratentorial lesions the pediatric patients with clinically isolated syndromes may reflect immunological differences or differences in myelin, possibly related to the caudorostral temporal gradient in myelin maturation. Ann Neurol 2008
Controlled study of the effect of angiotensin converting enzyme inhibition versus calcium-entry blockade on insulin sensitivity in overweight hypertensive patients: Trandolapril Italian Study (TRIS).

OBJECTIVE The aim of this study was to evaluate the effect of trandolapril, an angiotensin converting enzyme inhibitor, on blood pressure, forearm blood flow and insulin sensitivity in comparison with nifedipine gastrointestinal therapeutic system. PATIENTS AND METHODS This is a multicentre, two-way parallel-group, open-label comparative study in 90 overweight hypertensive patients, who were randomly assigned to treatment for 8 weeks with either trandolapril or nifedipine. At baseline and after treatment, all patients underwent an oral glucose tolerance test, an evaluation of their metabolic profiles and a euglycaemic hyperinsulinaemic clamp test. In a subgroup of 18 patients, a forearm study was carried out. RESULTS Blood pressure fell by the second week of treatment and remained significantly reduced compared with baseline in both treatment groups. Plasma triglyceride levels were also significantly reduced after trandolapril therapy, but no significant changes occurred in the other metabolic parameters during treatment with either drug. During the euglycaemic hyperinsulinaemic clamp, whole-body glucose use was similar in the two treatment groups at baseline, and a moderate but statistically significant increase in insulin sensitivity was observed after trandolapril treatment (trandolapril: 5.0 +/- 0.2 versus 4.5 +/- 0.2 mg/kg per min; nifedipine: 4.1 +/- 0.3 versus 4.2 +/- 0.3 mg/kg per min; P < 0.05, versus baseline and trandolapril versus nifedipine treatment). Skeletal muscle glucose uptake was significantly higher after trandolapril than after nifedipine therapy (5.0 +/- 0.7 and 3.0 +/- 0.4 mg/min, respectively; P < 0.01). As forearm blood flow was similar in the two treatment groups at baseline and was unchanged after 8 weeks of therapy, skeletal muscle glucose extraction was significantly greater in the ACE inhibitor treated-group than in the nifedipine comparative group (trandolapril: baseline 21 +/- 2, treatment 24 +/- 3 mg/dl; nifedipine: baseline 18 +/- 3, treatment 16 +/- 2 mg/dl; P < 0.05, trandolapril versus nifedipine treatment). CONCLUSIONS During short-term treatment, ACE inhibition with trandolapril was able to moderately improve insulin sensitivity, in comparison with calcium blockade, and this effect appeared to be independent of the haemodynamic action of the drug.
Six-month survival benefits and clinical guideline recommendations in ACS

To the Editor: Chew et al claim that their registry study ‘Six-month survival benefits associated with clinical guideline recommendations in acute coronary syndromes’, recently published in Heart ,1 ‘suggests that invasive management resulting in revascularisation does provide a reduction in mortality, reinforcing clinical trial data that have relied upon composite …
Nondiagonal color correction

A new color correction method is introduced which predicts how changing the color of the scene illuminant will affect a camera's RGB response. Like diagonal transformation color correction methods, the new method requires only 3-parameters. It therefore requires only the RGB color of the two illuminants be known. The method models the 9-parameters of a 3-by-3 linear transformation using a 3-dimensional linear model composed of 3 basis transformations. Experiments show that the method works better than the standard diagonal model unless the camera sensors are very sharply peaked, in which case the performance is essentially unchanged.
Modafinil activates cortical and subcortical sites in the sleep-deprived state.

UNLABELLED SUBJECT OBJECTIVES: To assess the effect of the wake-promoting drug modafinil on working memory and brain activation in the executive network, following a single night of sleep deprivation. DESIGN Randomized, placebo-controlled, 4-arm, double-blind evaluation of a single 200-mg dose of modafinil on working memory (1-, 2-, and 3-back)-related functional brain activation and performance following overnight sleep deprivation. SETTING General Clinical Research Center, Biomedical Imaging Center. SUBJECTS Eight medication-free men, aged 21 to 35 years. INTERVENTIONS Overnight sleep deprivation, single-dose 200-mg modafinil, functional magnetic resonance imaging MEASUREMENTS AND RESULTS Brain activation patterns and regional signal intensity based on the blood-oxygen level-dependent signal were assessed. The following reaction times were used as measures of performance: (1) attention in the scanner before functional scanning, (2) "back" responses during the active-task block, and (3) attention during the baseline task block. Contrast of activation maps among conditions revealed sleep-deprivation and drug effects, and their interactions. Performance in the deprived state was enhanced by modafinil only at an intermediate (2-back) level of task difficulty and was associated with the recruitment of increased cortical activation volumes. Strong and consistent individual differences in performance were noted on the working memory tasks. CONCLUSIONS Modafinil effectively counters the adverse effects of overnight sleep deprivation on working memory but only when task difficulty is moderate, recruiting extensive areas in the executive network to do so. Interindividual differences in working-memory performance are stable trait characteristics.
Vibrio furnissii isolated from humans in Peru: a possible human pathogen?

During a cholera surveillance programme, Vibrio furnissii was isolated in late January and early February 1994 from stool samples collected from 14 persons of whom six had diarrhoea. The remaining eight persons were healthy family members or neighbours to cholera cases. No common source of infection was found. Strains isolated from stool samples each showed typical biochemical reactions of V. furnissii including gas production. Each isolate, except one, agglutinated O-antisera yielding a total of eight different serotypes. Most isolates were sensitive to 10 antibiotics tested, except to ampicillin and the vibriostatic agent O/129 (10 μg). Eight of 14 (57%) strains carried plasmids in the size range 2·6–88 kb, however, no correlation was found between antibiotic susceptibility patterns and plasmid content. Altogether, seven closely related HindIII ribotypes were observed among the 14 V. furnissii isolates studied. V. furnissii strains isolated from family members and other persons living close together often showed different ribotypes suggesting that the isolation was not associated with neighbourhood. Serotyping, plasmid profiling and ribotyping revealed a high strain diversity within V. furnissii, however, the importance of V. furnissii as an enteric pathogen remains to be elucidated.