Miracle-dz/UniFAR-FTUs huggingface dataset:
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.

OBJECTIVE Steroidogenic acute regulatory (STAR) protein plays a crucial role in steroidogenesis, and mutations in the STAR gene cause congenital lipoid adrenal hyperplasia (CLAH). This study investigated the STAR mutation spectrum and functionally analyzed a novel STAR mutation in Korean patients with CLAH. METHODS Mutation analysis of STAR was carried out in 25 unrelated Korean CLAH patients. A region of STAR comprising exons 4-7 was cloned from human genomic DNA into an expression vector, followed by site-directed mutagenesis and transient expression in COS7 cells. The splicing pattern was analyzed by in vitro transcription, and each transcript was functionally characterized by measuring pregnenolone production in COS7 cells cotransfected with the cholesterol side chain cleavage system. RESULTS Mutation p.Q258X was identified in 46 of 50 alleles (92%); mutation c.653C>T was detected in two alleles (4%); and mutations p.R182H and c.745-6_810del were found in one allele (2%). Reverse transcriptase-PCR products amplified from a patient heterozygous for compound c.653C>T and c.745-6_810del mutation revealed multiple alternatively spliced mRNAs. In vitro expression analysis of a minigene consisting of exons 4-7 containing the c.653C>T yielded two transcripts in which exon 6 or exons 5 and 6 were skipped. The encoded proteins exhibited defective pregnenolone-producing ability. The c.745-6_810del mutation led to full and partial intron retention. CONCLUSIONS p.Q258X is the most common STAR mutation in Korea. A previously reported c.653C>T variant was found to cause aberrant splicing at the mRNA level, resulting in perturbation of STAR function. The c.745-6_810del mutation also resulted in aberrant splicing.
Best Adaptation Redeeming People's Homes: Enlightened Occupational Therapy

This opinion piece looks at the difference between meeting the strict criteria of physical needs in housing adaptations and the approach of supporting the ‘occupation’ of living. It argues that one cannot ‘buy back’ someone's home simply by meeting physical needs. In the area of adaptation, occupational therapists need to return to their core values of maintaining an individual's occupation of living.
Multiscroll Chaotic attractors from a Modified Colpitts oscillator Model

A simple approach for generating (2N + 1)-scroll chaotic attractor from a modified Colpitts oscillator model is proposed in this paper. The key strategy is to increase the number of index-2 equilibrium points by introducing a triangle function to directly replace the nonlinearity term of Colpitts oscillator model. The dynamical characteristics of the new multiscroll chaotic system are studied comprehensively. A circuit realization structure is introduced and the experimental results demonstrate that (2N + 1)-scroll chaotic attractors can be obtained in practical circuit.
Operative Gynecologic Laparoscopy in Ile-Ife, Nigeria: Preliminary Experience

Abstract Background: Operative gynecologic laparoscopy (OGL) had remained in latency in Nigeria ostensibly because of widespread lack of equipment and skilled personnel. Following the tertiary health care intervention program of the Nigerian government, video-assisted laparoscopy equipment became available in the Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife, Nigeria, in 2010. Methods: OGL was commenced in OAUTHC, Ile-Ife in 2011, and prospective data began to be collected using a specifically designed instrument. An analysis of the data collected over the 12-month period from November, 2011 to October, 2012 was performed. Results: There were 51 OGLs, making up 23.7% of the 215 gynecologic surgeries over the study period. The patients' ages ranged from 20 to 50 years (mean age=32.6±6.0 years). Ten (19.6%) of the OGLs were emergencies, whereas 41 (80.4%) were elective. Twenty-eight patients (54.9%) had tubal surgery for tubal-factor infertility, whereas 6 (11.8%) had endometriosis.
A Nonlinear Dynamics Perspective of Wolfram's New Kind of Science Part XIV: More Bernoulli sigmatau-Shift Rules

Over the past eight years, we have studied one of the simplest, yet extremely interesting, dynamical systems; namely, the one-dimensional binary Cellular Automata. The most remarkable results have been presented in a series of papers which is concluded by the present article. The final stop of our odyssey is devoted to the analysis of the second half of the 30 Bernoulli στ-shift rules, which constitute the largest among the six groups in which we classified the 256 local rules. For all these 15 rules, we present the basin-tree diagrams obtained by using each bit string with L ≤ 8 as initial state, a summary of the characteristics of their ω-limit orbits, and the space-time patterns generated from the superstring. Also, in the last section we summarize the main results we obtained by means of our "nonlinear dynamics perspective".
Natural course of untreated microalbuminuria in children and adolescents with type 1 diabetes and the importance of diabetes duration and immigrant status: longitudinal analysis from the prospective nationwide German and Austrian diabetes survey DPV.

OBJECTIVE To identify risk factors for the development and progression of untreated persistent microalbuminuria in children and adolescents with type 1 diabetes. DESIGN AND METHODS A total number of 683 children and adolescents with type 1 diabetes recruited from the prospective nationwide German and Austrian diabetes survey (DPV) were included in the analysis. Inclusion criteria were onset of type 1 diabetes under the age of 11 years, diabetes duration of more than 1 year and continuous follow-up over 5 years with at least two documented urine analyses per year. Subjects treated with angiotensin-converting enzyme inhibitors were excluded. Risk factors such as sex, body mass index SDS, diabetes duration, HbA1c, total cholesterol, HDL-cholesterol, LDL-cholesterol, systolic and diastolic blood pressure, and immigrant status were analysed by logistic regression. RESULTS At baseline (age 10.5 ± 0.1 years, diabetes duration 4.6 ± 2.4 years and HbA1c 7.4 ± 1.1%), 75.6% of children had normoalbuminuria, 15.7% had intermittent microalbuminuria, 8.6% had persistent microalbuminuria and 0.1% had macroalbuminuria. After a follow-up of 5 years, 59.4% of adolescents continued to have normoalbuminuria, 18.4% had progression, 15.2% had regression of microalbuminuria, and in 6.9% of the subjects, microalbuminuria remained unchanged. We found significant associations between persistent microalbuminuria at baseline and during each year of follow-up (P < 0.0001). Logistic regression analysis identified diabetes duration and immigrant status as significant factors for microalbuminuria (P = 0.009 and P = 0.009). CONCLUSIONS The survey in a real-world setting shows that diabetes duration and immigrant status are risk factors for the development and progression of untreated microalbuminuria in children and adolescents with type 1 diabetes.
Perturbation of the Chaotic 1D Mixed Wave System Causes the Unbounded Growth of the Snapshots of the Gradient

Consider the one-dimensional mixed wave equation on a unit interval, where the left-end boundary condition is linear, pumping energy into the system, while the right-end boundary condition is self-regulating of the van der Pol type with a cubic nonlinearity. First, we show a certain parameter range of the chaotic vibration of the system. Furthermore, if the right-end van der Pol boundary contains an extra linear displacement feedback term, then we show that under some suitable conditions, the system is still chaotic in the sense of unbounded growth of the snapshots of the gradient.
Overall and cause-specific mortality in GH-deficient adults on GH replacement.

OBJECTIVE Hypopituitarism is associated with an increased mortality rate but the reasons underlying this have not been fully elucidated. The purpose of this study was to evaluate mortality and associated factors within a large GH-replaced population of hypopituitary patients. DESIGN In KIMS (Pfizer International Metabolic Database) 13,983 GH-deficient patients with 69,056 patient-years of follow-up were available. METHODS This study analysed standardised mortality ratios (SMRs) by Poisson regression. IGF1 SDS was used as an indicator of adequacy of GH replacement. Statistical significance was set to P<0.05. RESULTS All-cause mortality was 13% higher compared with normal population rates (SMR, 1.13; 95% confidence interval, 1.04-1.24). Significant associations were female gender, younger age at follow-up, underlying diagnosis of Cushing's disease, craniopharyngioma and aggressive tumour and presence of diabetes insipidus. After controlling for confounding factors, there were statistically significant negative associations between IGF1 SDS after 1, 2 and 3 years of GH replacement and SMR. For cause-specific mortality there was a negative association between 1-year IGF1 SDS and SMR for deaths from cardiovascular diseases (P=0.017) and malignancies (P=0.044). CONCLUSIONS GH-replaced patients with hypopituitarism demonstrated a modest increase in mortality rate; this appears lower than that previously published in GH-deficient patients. Factors associated with increased mortality included female gender, younger attained age, aetiology and lower IGF1 SDS during therapy. These data indicate that GH replacement in hypopituitary adults with GH deficiency may be considered a safe treatment.
A Modified Chua Circuit Simulates a V-Shaped trough in Autonomic Activity as a precursor of Sudden Cardiac Death

Recently we have reported that a previously unidentified V-trough of sympathetic nerve activity (SNA) is a potential precursor of lethal cardiac events by examining 24-hour ambulatory electrocardiograms in which such an event was recorded by chance. The V-trough was marked by three consecutive compartments: a small variation lasting two hours, an abrupt descent lasting 30 min and a sharp ascent for 40 min. We reported that the hemodynamics consisting of heart rate, SNA and blood pressure (BP) is modeled excellently by the modification of a known chaotic electrical circuit, Chua circuit. A V-trough of SNA appears by increasing the resistive element between SNA and BP in the circuit, which corresponds to the impaired regulation of BP by SNA. This finding is consistent with an acknowledged finding that the depressed baroreflex (reflex of BP by SNA) may trigger a lethal arrhythmia.
Strategic implications of asynchronous healthcare communication

Asynchronous online communication technologies are likely to cause major changes in the way patients and their healthcare providers communicate. Initially, these technologies will be applied to undemanding communication uses, such as requesting prescription refills. In the longer term, however, the technologies may provide strategic benefits to healthcare innovators. In this paper, we project changes that we expect to accompany the advent of asynchronous healthcare communication and propose several strategic opportunities that these changes will create.
Vitamin D deficiency in postmenopausal, healthy women predicts increased cardiovascular events: a 16-year follow-up study.

OBJECTIVE To investigate the relationship between vitamin D status in healthy women and cardiovascular outcome. DESIGN AND METHODS Between 1990 and 1993, 2016 healthy, recently postmenopausal women were enrolled in the Danish Osteoporosis Prevention Study. Serum levels of 25-hydroxyvitamin D (25(OH)D, nmol/l) were measured at baseline. Participants were followed for 16 years. The primary end point was a combination of death, heart failure, myocardial infarction (MI) and stroke. Vitamin D deficiency was defined as serum 25(OH)D<50 nmol/l. The primary end point was adjusted for other risk factors of adverse cardiovascular events (age, smoking, blood pressure, hip-waist ratio, education and family history of MI). RESULTS At baseline, mean age was 50 years and BMI 25. Women with vitamin D deficiency (n=788) had more cardiovascular risk factors than vitamin D-replete women (n=1225). Compared with vitamin D-replete women, women with low 25(OH)D levels had significantly higher BMI and triglycerides, lower HDL and hip-waist ratio and less education. More were smokers among the vitamin D deficient (47 vs 38%). A primary end point was experienced by 118 (15%) with vitamin D deficiency and by 125 (10%) of the vitamin D replete. Hazard ratio (HR) was 1.49 (95% confidence interval: 1.16-1.92; P=0.002) in the vitamin D deficient. Adjusted HR was 1.32 (1.02-1.71; P=0.03). In total, 135 women died; of these, 65 (8%) were of the vitamin D deficient and 70 (6%) in the vitamin D-replete group; unadjusted HR was 1.44 (1.02-2.01; P=0.04) for vitamin D deficiency. CONCLUSION Healthy women with vitamin D deficiency have increased risk of adverse cardiovascular outcome.
Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome.

OBJECTIVE Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly increased adult height gain, whereas Ox mg/kg per day (0.06) did not, at the cost of deceleration of breast development and mild virilization. The aim of this follow-up study in adult participants of the pediatric trial was to investigate the long-term effects of previous Ox treatment. DESIGN AND METHODS During the previous randomized controlled trial, 133 girls were treated with GH combined with placebo (Pl), Ox 0.03, or Ox 0.06 from 8 years of age and estrogen from 12 years. Sixty-eight women (Pl, n=23; Ox 0.03, n=27; and Ox 0.06, n=18) participated in the double-blind follow-up study (mean age, 24.0 years; mean time since stopping GH, 8.7 years; and mean time of Ox/Pl use, 4.9 years). We assessed height, body proportions, breast size, virilization, and body composition. RESULTS Height gain (final minus predicted adult height) was maintained at follow-up (Ox 0.03 10.2±4.9 cm, Ox 0.06 9.7±4.4 cm vs Pl 8.0±4.6 cm). Breast size, Tanner breast stage, and body composition were not different between groups. Ox-treated women reported more subjective virilization and had a lower voice frequency. CONCLUSION Ox 0.03 mg/kg per day has a beneficial effect on adult height gain in TS patients. Despite previously reported deceleration of breast development during Ox 0.03 treatment, adult breast size is not affected. Mild virilization persists in only a small minority of patients. The long-term evaluation indicates that Ox 0.03 treatment is effective and safe.
Lung Ultrasonography for the Assessment of Perioperative Atelectasis: A Pilot Feasibility Study

BACKGROUND: Few diagnostic tools are available to anesthesiologists when confronted with intraoperative hypoxemia. Lung ultrasonography is a safe and accurate bedside imaging modality. The aim of this study was to evaluate the feasibility of lung ultrasonography during the perioperative period and assess its ability to detect intraoperative respiratory complications and oxygenation changes resulting from perioperative atelectasis. METHODS: In this prospective observational pilot study, 30 consecutive patients scheduled for laparoscopic surgery were recruited. Mechanical ventilation was standardized. Lung ultrasonography was performed at 5 predefined time points: before induction of general anesthesia (GA), after induction of GA, after pneumoperitoneum insufflation, on arrival in the recovery room, and before recovery room discharge. For each echographic examination, 12 pulmonary quadrants were imaged. From these, a semiquantitative score, the lung ultrasound (LUS) score, was calculated to assess lung aeration at each time point. RESULTS: Lung ultrasonography was possible in all patients. Changes in the LUS score between the postinduction period and arrival in the recovery room were correlated with changes in oxygenation (Spearman r = −0.43, P = .018). Induction of GA was associated with an increase in the LUS score, which gradually worsened at all time points until recovery room discharge. This increase was significantly worse in the basal and dependent lung zones. Lung ultrasonography helped in the detection of 2 capnothoraces, 1 endobronchial intubation, and 1 episode of subclinical pulmonary edema. CONCLUSIONS: Lung ultrasonography in the perioperative period is feasible, allows tracking of perioperative atelectasis, and facilitates the diagnosis of respiratory complications. The evolution of aeration loss correlates moderately with changes in oxygenation.
Treatment of renal fibromuscular dysplasia in an adolescent male: A case report

Introduction: Fibromuscular dysplasia (FMD) is a rare vascular disease that causes stenosis in the major arteries such as the renal and carotid arteries. The exact prevalence of FMD in the general population is not known. It is often presented with symptoms of hypertension. Mainly reported in middle-aged females, the diagnosis of FMD is often delayed. There are very few case reports of FMD in males and children in literature. Case Report: We report the case of a 13-year-old asymptomatic boy found to have FMD in the right renal artery (RRA). An angiography revealed high grade stenosis that was corrected by surgery. A hepatorenal bypass using anastomosis of the gastroduodenal artery (GDA) to RRA was deemed appropriate. An angioplasty at the anastomosis six weeks after this procedure corrected an upward trend in postsurgical blood pressure readings and RRA blood velocities. Two years after the surgery, the patient has well-controlled blood pressure, managed with low dose of ACE-inhibitors. Conclusion: Hepatorenal bypass of RRA through anastomosis of GDA was a viable surgical option in this case. The monitoring of blood pressure readings allowed for early detection and correction of any post-surgical stenosis.
Evidence for Occupational Therapy Interventions: Effectiveness Research Indexed in the OTseeker Database

The aim of this study was to determine the overall quantity and quality of randomised controlled trials and the quantity of systematic reviews relevant to occupational therapy practice. The content of OTseeker (www.otseeker.com) was surveyed in June 2006. There were 3401 randomised controlled trials and 939 systematic reviews in OTseeker (total = 4340), published mostly in non-occupational therapy journals. The diagnostic areas of stroke (n = 458) and back or neck conditions/injuries (n = 391), and the intervention categories of exercise (n = 1262) and consumer education (n = 1098), were the most frequently listed. Although the quantity of evidence available about the effectiveness of occupational therapy interventions is rapidly increasing, some areas require greater research effort. Occupational therapists also need to search more broadly than occupational therapy journals for research to support clinical decision making.
BMP system expression in GCs from polycystic ovary syndrome women and the in vitro effects of BMP4, BMP6, and BMP7 on GC steroidogenesis.

BACKGROUND The bone morphogenetic proteins (BMPs) are growth factors involved in the folliculogenesis. Alteration in their expression may compromise the reproductive process in disease such as the polycystic ovary syndrome (PCOS). This study investigated the expression and role of granulosa cell (GC) BMP from normal cycling and PCOS women. METHODS AND RESULTS This prospective study was performed in GCs obtained from 14 patients undergoing IVF: i) six women with normal ovulatory cycles and tubal or male infertility and ii) eight women with PCOS. BMP2, BMP4, BMP5, BMP6, BMP7, and BMP8A and their receptors BMPR1A, BMPR1B, and BMPR2 were identified by RT-PCR in GCs from normally cycling and PCOS women. BMP4, BMP6, and BMP7 expressions were confirmed by immunohistochemistry. Quantitative transcript analysis showed the predominant expression of BMP6. In GCs from PCOS women, an overexpression of BMP6 (P<0.01) and BMPR1A mRNA (P<0.05) was observed. GC culture experiments demonstrated that basal estradiol (E₂) production was threefold higher but FSH-induced E₂ increment was twofold lower in PCOS compared with controls. In PCOS, BMP6 and BMP7 exerted a stimulatory effect on basal E₂ production while BMP4 and BMP6 inhibited FSH-induced E₂ production. FSH receptor and aromatase expression were not different between both groups. CONCLUSION The BMP system is expressed in human GCs from normal cycling and PCOS women. The BMP may be involved in reproductive abnormalities found in PCOS.
Soluble α-klotho: a novel serum biomarker for the activity of GH-producing pituitary adenomas.

OBJECTIVE Klotho is a lifespan-influencing gene expressed mainly in the kidneys. Soluble α-Klotho (αKL) is released into the circulation. In this study, we present baseline αKL serum levels of patients with acromegaly compared with controls with other pituitary adenomas and assess changes following transsphenoidal surgery. DESIGN Prospective controlled study. METHODS We measured soluble αKL (sandwich ELISA) and IGF1 (RIA) in sera of 14 patients (eight females and six males) with active acromegaly and in 22 control patients (13 females and nine males) operated for non-GH-producing pituitary adenomas. Immunohistochemical staining for Klotho was performed in resected adenomas and in normal pituitary tissue samples. RESULTS Soluble αKL was high in the acromegaly group preoperatively (median 4217 pg/ml, interquartile range (IQR) 1812-6623 pg/ml) and declined after surgery during early follow-up (2-6 days; median 645 pg/ml, IQR 550-1303 pg/ml) (P<0.001) and during late follow-up (2-3 months post-operatively; median 902 pg/ml, IQR 497-1340 pg/ml; P<0.001). In controls, preoperative soluble αKL was significantly lower than in acromegalics, 532 pg/ml (400-677 pg/ml; P<0.001). Following surgery, soluble αKL remained low during early and late follow-up - changes over time within the control group were not statistically significant. These results were independent of age, sex and kidney function. Klotho staining was equal or slightly decreased in GH-positive adenomas compared with controls. CONCLUSION High soluble αKL serum levels were specific to GH-producing adenomas and decreased rapidly following adenoma removal. Thus, soluble αKL appears to be a new specific and sensitive biomarker reflecting disease activity in acromegaly. Similar Klotho staining patterns in controls and acromegalics suggest that the rise in serum αKL is caused by systemic actions of pituitary GH rather than due to increased expression of Klotho by the pituitary (adenoma).