Miracle-dz/UniFAR-FTUs huggingface dataset:
A two‐year prospective study of the effect of ursodeoxycholic acid on urinary bile acid excretion and liver morphology in cystic fibrosis–associated liver disease

The efficacy of 2 years of treatment with ursodeoxycholic acid (UDCA) in cystic fibrosis (CF)‐associated liver disease was evaluated by liver biopsies and liver function tests in 10 patients aged 8 to 28 years. The metabolism of UDCA was investigated by analysis of urinary bile acids with fast atom bombardment mass spectrometry (FABMS) and gas‐liquid chromatography–mass spectrometry. Eight patients responded with normalization of liver function tests (LFT) and all with decreased serum levels of immunoglobulin G (IgG). Blind evaluation of liver biopsies indicated improved liver morphology with less inflammation and/or bile duct proliferation than before treatment with UDCA in 7 patients. Only 1 patient had signs of progression of clinical liver disease. The proportion of UDCA and isoUDCA in urine varied, but increased during treatment from a mean (median) of approximately 4% (3%) to 40% (40%) of total bile acids. The increase was not related to LFT. The secondary bile acids, such as lithocholic acid (LCA) and deoxycholic acid (DCA), did not increase significantly. The excretion pattern of glycosidic conjugates of UDCA and its metabolites was similar to that found in healthy individuals, UDCA and isoUDCA being mainly excreted in conjugation with N‐acetylglucosamine. This study shows that UDCA modulates inflammation in CF‐associated liver disease and indicates improvement of liver morphology during 2 years of treatment.
Is It Okay To Ask: Transgender Patient Perspectives on Sexual Orientation and Gender Identity Collection in Healthcare

OBJECTIVE The National Academy of Medicine and Joint Commission recommend routine documentation of sexual orientation (SO) and gender identity (GI) in healthcare to address lesbian, gay, bisexual, or transgender (LGBT) health disparities. We explored transgender patient-reported views on the importance on SO/GI collection, their willingness to disclose, and their perceived facilitators of SO/GI collection in primary care and emergency department (ED) settings. METHODS We recruited a national sample of self-identified transgender patients. Participants completed demographic questions, survey questions, and free-response comments regarding their views on SO/GI collection. Data were analyzed using descriptive statistics; inductive content analysis was conducted with open-ended responses. RESULTS Patients mostly self-identified as male gender (54.5%), white (58.4%), and SO other than heterosexual or LGB (33.7%; N = 101). Patients felt that it was more important for primary care providers to know their GI than SO (89.1% vs. 57%; p < 0.001); there was no difference among reported importance for ED providers to know the patients' SO versus GI. Females were more likely than males to report medical relevance to chief complaint as a facilitator to SO disclosure (89.1% vs. 80%; p = 0.02) and less likely to identify routine collection from all patients as a facilitator to GI disclosure (67.4% vs. 78.2%; p = 0.09). Qualitatively, many patients reported that medical relevance to chief complaint and an LGBT-friendly environment would increase willingness to disclose their SO/GI. Patients also reported need for educating providers in LGBT health prior to implementing routine SO/GI collection. CONCLUSIONS Patients see the importance of providing GI more than SO to providers; nonetheless they are willing to disclose SO/GI in general. Findings also suggest that gender differences may exist in facilitators of SO/GI disclosure. Given the underrepresentation of transgender patients in healthcare, it is crucial for providers to address their concerns with SO/GI disclosure, which include LGBT education for medical staff and provision of a safe environment.
Filamin B Loss‐of‐Function Mutation in Dimerization Domain Causes Autosomal‐Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies

Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal‐recessive and autosomal‐dominant SCT, respectively. We present a family with two patients suffering from autosomal‐recessive SCT with rib anomalies, including malalignment, crowding, and uneven size and shape of ribs. Whole‐exome sequencing revealed a novel p.S2542Lfs*82 (c.7621dup) frameshift mutation in FLNB. This frameshift mutation lies in the C‐terminal‐most domain involved in FLNB dimerization and resulted in a 20‐residue elongation, with complete familial segregation and absence in 376 normal controls. The mutant p.S2542Lfs*82 FLNB demonstrated a complete loss of ability to form a functional dimer in transiently transfected HEK293T cells. The p.S2542Lfs*82 mutation also led to significantly reduced protein levels and accumulation of the mutant protein in the Golgi apparatus. This is the first identified mutation in the dimerization domain of FLNB. This loss‐of‐function frameshift mutation in FLNB causes autosomal‐recessive SCT with rarely reported rib anomalies. This report demonstrates the involvement of rib anomaly in SCT and its causative mutation in the dimerization domain of FLNB.
Fragmentary and en bloc blackouts: similarity and distinction among episodes of alcohol-induced memory loss.

OBJECTIVE En bloc and fragmentary blackouts are distinguishable forms of alcohol-induced amnesia. The former are instances of full and permanent memory loss for intoxicated events, whereas the latter are episodes for which retrieval of experiences is facilitated by provision of cues. Beyond this nosological difference, little is known about descriptive dimensions of the two blackout types. The current study assessed their characteristics as reported by a group of heavy drinking young adults. METHOD A sample of 136 young adult volunteers (54% male; mean [SD] age = 22.71 [2.23]) were administered a Time-Line Follow-Back assessment, expanded to gather descriptive information about the occurrence and characteristics of en bloc and fragmentary blackouts. RESULTS Although overall reporting of blackouts by the sample mirrored rates reported in prior research, prevalence and incidence of fragmentary blackouts were more than threefold those of en bloc blackouts. A surprising finding was that the two blackout types exhibited a similar range and distribution of corresponding blood alcohol concentrations. Most en bloc blackouts involved concurrent use of illicit substances; polysubstance use was reported for few fragmentary blackouts. In addition, subjective evaluations of en bloc blackouts were quite negative, whereas fragmentary blackouts were evaluated as only mildly negative. CONCLUSIONS Beyond nosological distinctions, en bloc and fragmentary blackouts differ on several descriptive dimensions. The collective findings expand understanding of diversity in experiences that accompany memory loss after drinking.
Investigating the awareness level about diabetes mellitus and associated factors in Tarlai (rural Islamabad).

OBJECTIVES To determine the baseline level of awareness amongst a rural community about Diabetes Mellitus (irrespective of type 1 or type 2), its risk factors and complications. METHODS This was a cross-sectional survey conducted at the community of Tarlai, Islamabad, Pakistan, in January of 2008. A structured questionnaire was used and 300 adults (age > or = 18 years) were assessed on their knowledge regarding awareness of Diabetes Mellitus, its risk factors and complications. All data collected was entered into SPSS version 10.0. The data was re-validated and analyzed. RESULTS Out of the three hundred adults subjected to the survey, only 129 (43%) adults had any awareness of Diabetes Mellitus. Adults with no regular, scheduled exercise were 221 (73.7%) and 256 (85.3%) did not have healthy eating habits. Awareness of risk factors was present in 42 (14%) while awareness of the complications associated with the disease was 65 (22%). Adults which reported as never going for regular checkups to any clinic or hospital were 232 (77%). Family history of diabetes mellitus was statistically significantly associated with awareness about diabetes mellitus (65% vs 32%, p < 0.001), people who were in contact regularly with health care providers were more aware about diabetes and the associated risk factors than those who were not (71% vs 35%, p < 0.001). Sex was not associated (p = 0.28) with awareness about diabetes mellitus, nor was the educational status (p = 0.46). CONCLUSIONS Majority of adults were unaware of Diabetes Mellitus itself and associated risk factors. Raising public awareness of the disease through outreach programmes and mass media should be planned and implemented.
Streptozotocin-Induced Diabetes Causes Metabolic Changes and Alterations in Neurotrophin Content and Retrograde Transport in the Cervical Vagus Nerve

Abnormal availability of neurotrophins, such as nerve growth factor (NGF), has been implicated in diabetic somatosensory polyneuropathy. However, the involvement of neurotrophins in diabetic neuropathy of autonomic nerves, particularly the vagus nerve which plays a critical role in visceral afferent and in autonomic motor functions, is unknown. To assess the effects of hyperglycemia on the neurotrophin content and transport in this system, cervical vagus nerves of streptozotocin (STZ)-induced diabetic rats were studied at 8, 16, and 24 weeks after the induction of diabetes. Elevations in vagus nerve hexose (glucose and fructose) and polyol levels (sorbitol), and their normalization with insulin treatment, verified that the STZ treatment resulted in hyperglycemia-induced metabolic abnormalities in the nerve. Neurotrophin (NGF and neurotrophin-3; NT-3) content and axonal transport were assessed in the cervical vagus nerves from nondiabetic control rats, STZ-induced diabetic rats, and diabetic rats treated with insulin. The NGF, but not the NT-3, content of intact vagus nerves from diabetic rats was increased at 8 and 16 weeks (but not at 24 weeks). Using a double-ligation model to assess the transport of endogenous neurotrophins, the retrograde transport of both NGF and NT-3 was found to be significantly reduced in the cervical vagus nerve at later stages of diabetes (16 and 24 weeks). Anterograde transport of NGF or NT-3 was not apparent in the vagus nerve of diabetic or control rats. These data suggest that an increase in vagus nerve NGF is an early, but transient, response to the diabetic hyperglycemia and that a subsequent reduction in neuronal access to NGF and NT-3 secondary to decreased retrograde axonal transport may play a role in diabetes-induced damage to the vagus nerve.
IRRITABILITY

Summary The heading of ‘Irritable Mood’ was introduced into the Index Medicus in 1985 and it is noted that this term is frequently used but seldom defined. It is therefore important that a consensus is reached concerning its definition in the context of psychopathology and a definition is offered. It seems important to distinguish irritable mood and its outward manifestations from violently assaultive behaviour although there may be a continuum of disturbance from mildly to severely disordered behaviour. Irritability has so far not attracted much attention from clinicians and yet it is a common mood associated with many psychiatric and non-psychiatric conditions. Severe irritability may cause considerable distress both to the patient, his associates and sometimes also those attempting to treat or otherwise help him. It may overshadow other symptoms and the correct diagnosis and management may be missed. The validity and reliability of a convenient self-assessment scale is re-examined in the light of further data. Data from previous studies in the context of mood disorders suggests that irritability is a mood state which is independent of the other major moods of depression and anxiety; the severity of irritability probably has an inverse correlation with age. The most important associated factors are listed in order to inform researchers of the possible methodological pitfalls.
Investigation of pathological and clinical features of lupus nephritis in 73 autopsied cases with systemic lupus erythematosus

The aims of this study were to analyze the clinical and pathological features of lupus nephritis (LN) and examine the association between these features and pathological condition, treatment, and prognosis. Of the 177 systemic lupus erythematosus patients who died while receiving inpatient care at Juntendo University Hospital between 1960 and 2001, we investigated the clinical features, treatment, and pathological features of 73 of these who underwent pathological autopsy and had a clear medical history. We divided these cases into two groups, i.e., those up to 1979 (Group A) and those during and after 1980 (Group B) in order to investigate changes in tendencies by age. We also divided the cases into three groups by time interval between diagnosis and death to investigate long-term prognosis. Uremia was the direct cause of death in 38.9% of cases in Group A and only 10.8% of cases in Group B. Pathological features showed a tendency to change to a sclerotic lesion as the duration of the disorder became longer. Uremia attributable to LN was the direct cause of death in relatively fewer cases, although it is still found in the majority of LN cases and remains a problem requiring stringent management. The treatment of sclerotic lesions may be an issue that needs further attention.
The Increasing Use of Pediatric Emergency Facilities in the Evening

Objectives: In Japan, the demand for pediatric emergency medicine has been increasing, especially in the evening. The purpose of this study was to identify the reasons for overcrowding of pediatric emergency facilities in the evening. Methods: A population-based survey was conducted in Yokohama City, Japan, that targeted parents of children 1 or 3 years of age. These children participate in regular health checkups. Questionnaires about their child's illnesses and the pediatric emergency system were mailed to 30,000 parents of a child expected to undergo a health checkup between May 2004 and January 2005. Results: Data obtained from the completed questionnaires indicated that many parents noticed their child's illness or injury most frequently during the evening, when most medical facilities are closed. The peak period when parents noticed their child's illness was the evening (4:00 pm-12 midnight, 54.4%), followed by the daytime (8:00 am-4:00 pm, 30.3%) and then the nighttime (12 midnight-8:00 am, 15.3%). During all 3 periods, parents felt it difficult to judge their child's condition and thus many used emergency facilities unnecessarily. Conclusions: The overcrowding of pediatric emergency facilities in the evening is likely due mainly to a mismatch between the peak time of children's illnesses and the office hours of pediatric clinics. Parents' difficulties in assessing their child's condition and anxiety over their child's illness and injuries seem to be other factors that contribute to this imbalance.
Matched case-control study to examine association of psoriasis and migratory glossitis in India.

BACKGROUND Psoriasis is a multifactorial disease. Genetic and environmental factors, which determine the disease epidemiology and clinical spectrum, are heterogeneous in different populations. A few case-control studies from other countries have shown an association between psoriasis and migratory glossitis (MG). The characteristics of the association (e.g. relationship with gender, severity of psoriasis, early- versus late-onset psoriasis, etc.) have not been clearly defined. AIM To investigate the association of psoriasis and MG by conducting a matched case-control study in India. METHODS The study was conducted on 600 patients with psoriasis and 800 age- and sex-matched controls. Patients were examined for oral lesions and psoriasis severity was assessed by overall severity index (OSI) and psoriasis area and severity index (PASI). We compared the proportions of patients and controls with oral lesions, proportions of male and female patients who had MG, psoriasis severity scores of patients with or without MG, and proportions of early- and late-onset psoriasis patients who had MG. RESULTS Significantly, more patients had oral lesions than controls (P=0.0013). There was a strong association between psoriasis and MG (P<0.0001). MG and fissured tongue (FT) occurring in the same patient were also strongly associated with psoriasis (P=0.0003). There was a weak association of psoriasis with FT (P=0.0456). Significantly, higher proportion of male patients had MG compared to female patients (P=0.0246). Patients with MG had more severe psoriasis compared to those without the tongue lesions (P<0.0001). Similar proportions of patients with type 1 and type 2 psoriasis had MG (P=0.7268). CONCLUSIONS The results suggest that MG is a rare manifestation of psoriasis which occurs more commonly in male patients and in those with severe disease, and that it occurs with equal frequency in early- and late-onset psoriasis. It will be interesting to follow those patients who have MG, but not psoriasis, to see whether they develop psoriasis phenotype in future.
Safety and feasibility of levosimendan administration in takotsubo cardiomyopathy: a case series.

BACKGROUND Levosimendan is a noncatecholamine inotrope that does not increase oxygen consumption, utilized for the treatment for acute heart failure with left ventricular (LV) systolic dysfunction. Its use in takotsubo cardiomyopathy (TTC), a disease that contraindicates the use of catecholamine inotropes, is not well known. METHODS We prospectively analyzed 13 consecutive patients with TTC, low ejection fraction (EF) (<35%), and additional Mayo Clinic risk factors who were treated with i.v. infusion of levosimendan. Clinical course of patients, electrocardiogram presentation, LV function, and adverse events at follow-up were recorded. RESULTS All patients showed an impaired LV function (LVEF at admission 28 ± 5%), which significantly improved at discharge (51 ± 8%, P < 0.001). Mean hospital stay was 10 ± 4 days. Troponin levels at admission were directly related to length of hospitalization (r = 0.6, P < 0.001). Male gender (relative risk (RR) 1.85, P < 0.05), physical stress (RR 1.90, P < 0.05), ST elevation at ECG (RR 1.87, P < 0.05), and absence of chest pain (RR 2.23, P < 0.01) were found to be the predictors of longer hospital stay. Only 15% of subjects had adverse events during hospital stay; two patients incurred noncardiovascular death at follow-up. Age was the only predictor of adverse event at follow-up (RR 2.13, P < 0.05). CONCLUSIONS The use of levosimendan may be safe and feasible in patients with TTC. Randomized studies are warranted to further confirm these preliminary results.
Cell Surface Marker Phenotypes and Gene Expression Profiles of Murine Radiation-Induced Acute Myeloid Leukemia Stem Cells are Similar to Those of Common Myeloid Progenitors

Radiation exposure induces acute myeloid leukemia (AML) in humans and mice. Recent studies postulated that AML stem cells of spontaneous human AML arise from hematopoietic stem cells. However, other studies support the possibility that short-lived committed progenitors transform into AML stem cells, accompanied by a particular gene mutation. It remains unclear whether AML stem cells are present in radiation-induced AML, and information regarding AML-initiating cells is lacking. In this study, we identified and analyzed AML stem cells of mice with radiation-induced AML. The AML stem cells were identified by transplanting 100 bone marrow cells from mice with radiation-induced AML. We injected 100 cells of each of seven cell populations corresponding to different stages of hematopoietic cell differentiation and compared the latencies of AMLs induced in recipient mice. The identified radiation-induced AML stem cells frequently displayed similarities in both CD antigen and gene expression profiles with normal common myeloid progenitors. The number of common myeloid progenitor-like AML stem cells was significantly increased in mice with radiation-induced AML, but the progeny of common myeloid progenitors was decreased. In addition, analysis of radiation effects on the hematopoietic system showed that common myeloid progenitor cells were extremely radiosensitive and that their numbers remained at low levels for more than 2 months after radiation exposure. Our results suggest that murine radiation-induced AML stem cells arise from radiosensitive cells at a common myeloid progenitor stage.
FPGA systolic array GZIP compressor

In this paper we present a complete, open-source GZIP compressor implementation for FPGA based on a systolic array architecture. GZIP is one of the most utilized compression algorithms. Besides the usual use-case of compression for data storage, distributed computing systems such as Hadoop utilize compression to reduce the amount of data which is transferred between computing nodes in a cluster. However, compression with GZIP requires significant amounts of CPU processing power, negating some of the advantages of the compressed-transfer approach in distributed systems. We have designed, implemented and tested a hardware architecture and software application for compressing files using a hardware GZIP compressor. The system presented in this paper offloads GZIP compression from the host CPU to one or more systolic GZIP compression cores in FPGA, thereby reducing latency caused by compression and freeing up the CPU for other computing tasks. We implemented and evaluated a single GZIP compression core in a ML605 development board, equipped with a Xilinx Virtex 6 FPGA, utilizing Xillybus for data transfers over PCI Express. Our results indicate the peak compression throughput of our implementation is over 1.3 Gbps and an average throughput of 52 Mbps on the Calgary corpus. Our FPGA compression solution is at least twice as fast as software compression on an Intel Core i7, in all evaluated scenarios, and up to 18× faster for large files. The project source code is publicly available online1.