Miracle-dz/UniFAR-FTUs huggingface dataset:
Expressivity of hearing loss in cases with Usher syndrome type IIA

Abstract Objective: The purpose of this study was to compare the genotype/phenotype relationship between siblings with identical USH2A pathologic mutations and the consequent audiologic phenotypes, in particular degree of hearing loss (HL). Decade audiograms were also compared among two groups of affected subjects with different mutations of USH2A. Design: DNA samples from patients with Usher syndrome type II were analysed. The audiological features of patients and affected siblings with USH2A mutations were also examined to identify genotype-phenotype correlations. Study sample: Genetic and audiometric examinations were performed in 18 subjects from nine families with Usher syndrome type IIA. Results: Three different USH2A mutations were identified in the affected subjects. Both similarities and differences of the auditory phenotype were seen in families with several affected siblings. A variable degree of hearing loss, ranging from mild to profound, was observed among affected subjects. No significant differences in hearing thresholds were found the group of affected subjects with different pathological mutations. Conclusions: Our results indicate that mutations in the USH2A gene and the resulting phenotype are probably modulated by other variables, such as modifying genes, epigenetics or environmental factors which may be of importance for better understanding the etiology of Usher syndrome.
Microfibrils, elastin fibres and collagen fibres in the human intervertebral disc and bovine tail disc

The distribution of microfibrils was studied immunohistochemically in intervertebral discs taken from young normal human surgical cases and from the bovine tail. Co‐localization of microfibrils and elastin fibres was examined by dual immunostaining of fibrillin‐1 and elastin. Collagen fibre network orientation was studied by using polarized filters. A similar microfibrillar network was seen in both bovine and human discs with network organization being completely different from region to region. In the outer annulus fibrosus (OAF), abundant microfibrils organized in bundles were mainly distributed in the interterritorial matrix. In addition, the microfibril bundles were orientated parallel to each other and co‐localized highly with elastin fibres. Within each lamella, co‐localized microfibrils and elastin fibres were aligned in the same direction as the collagen fibres. In the interlamellar space, a dense co‐localized network, staining for both microfibrils and elastin fibres, was apparent; immunostaining for both molecules was noticeably stronger than within lamellae. In the inner annulus fibrosus, the microfibrils were predominantly visible as a filamentous mesh network, both in the interterritorial matrix and also around the cells. The microfibrils in this region co‐localized with elastin fibres far less than in the OAF. In nucleus pulposus, filamentous microfibrils were organized mainly around the cells where elastin fibres were hardly detected. By contrast, sparse elastin fibres, with a few of microfibrils, were visible in the interterritorial matrix. The results of this study suggest the microfibrillar network of the annulus may play a mechanical role while that around the cells of the nucleus may be more involved in regulating cell function.
Compreensão leitora de alunos do terceiro ano do ensino médio da rede estadual

ALVES NETO, Jose Edvaldo Ferreira. Compreensao leitora de alunos do terceiro ano do ensino medio da rede estadual. 2009. 157f. – Dissertacao (Mestrado) – Universidade Federal do Ceara, Departamento de Letras Vernaculas, Programa de Pos-graduacao em Linguistica, Fortaleza (CE), 2009.
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our detailed clinical observations in patients with MAK‐associated RP, including an assessment of syndromic symptoms frequently observed in ciliopathies.
Up front: the acquisition of a concept and a word

ABSTRACT Thirty-six 2- to 3-year-old children were given linguistic and non-linguistic tasks in order to determine whether the words front and back introduce the concept of ‘front–back’ orientation or whether the concept precedes the words. Contrary to prediction, a complex disjunctive concept of ‘front–back’ orientation was found to precede any knowledge of the words front and back. Results of the linguistic task show that the word back is comprehended before front, and further that children at an intermediate state of lexical knowledge interpret front as if it means back.
Rubella in Europe

Postnatal rubella is a mild illness, a disease which was considered to be of only minor importance for many years. The first authors to write about the disease as distinct from other exanthemata were German physicians; they differentiated rubella from measles and scarlet fever in the latter part of the eighteenth century and called the disease Rotheln. Hence the common English language eponym is ‘German measles’. Some consider that the term ‘German’ in German measles is probably of literary rather than of geographical significance and that it came from the old French ‘germain’ (derived from the Latin ‘germanus‘), meaning ‘closely akin to’ measles [1]. That it is not generally called by its German name, Rotheln, is due to Veale, a Scottish physician who in 1866 described 30 cases of rubella in the Edinburgh Medical Journal, and proposed ‘rubella’ as a short and euphonius name that could be easily pronounced [2].
Structural abnormalities underlying alveolar hypoventilation and fluid imbalance in the dystrophic hamster lung

Bio 14.6 dystrophic hamsters exhibit alveolar hypoventilation and increased lung hydration. This study evaluated whether age‐ and genotype‐related morphometric differences in lungs exist and correlate with the development of lung pathophysiology. Morphometry was used to characterize lungs of young (Y) and mature (M) control (C) and dystrophic (D) hamsters. With age, both C and D had increased barrier surface area [S(a‐b,p)] and morphometric diffusing capacity index [mdci], and decreased harmonic thickness. In C but not D, mean capillary diameter [dc] and parenchymal volume density [Vv(p,L)] increased with age, whereas barrier arithmetic thickness decreased. Chord length increased with age, whereas the ratio of parenchymal surface area to airspace volume [S/V] and the intersection density of the air‐blood interface [Iv(a‐b,s)] decreased in D but not C. At both ages, lung volume relative to body mass was greater in D than C. With that exception, no genotype differences were found in young hamsters. Mature D displayed lower Vv(p,L), S/V, dc, Iv(a‐b,s), S(a‐b,p), and mdci than mature C. Independent of age, chord length was greater but arithmetic thickness, airspace surface density, frequency of type II cells, and lamellar body area and volume density were lower in D than C. We conclude: 1) lung volume relative to body growth was greater in dystrophics than controls; 2) parenchymal remodeling was delayed or abnormal in dystrophics; 3) lower diffusing capacity in mature dystrophics may effect alveolar hypoventilation; 4) lower tissue volume, surface area, and the type II cell abnormalities in dystrophics could reduce sodium and water transport leading to greater lung hydration. Anat Rec 256:321–333, 1999. © 1999 Wiley‐Liss, Inc.
Direct percutaneous jejunostomy: techniques and applications--ten years experience.

PURPOSE To present 10 years experience with direct fluoroscopically guided percutaneous jejunostomy. MATERIALS AND METHODS Percutaneous jejunostomy was performed in 62 patients, most of whom had undergone major abdominal surgery. A new or replacement jejunostomy was created for alimentation in 20 and 21 patients, respectively. Jejunostomy was performed for interventional procedures of the bile ducts or intestine in 13 patients and for retrograde gastroesophageal drainage in eight. The distended jejunum was accessed with a 21-gauge needle, immobilized with a gastric anchor, and catheterized with a 10-14-F locking loop drain. RESULTS The technical success rate was 19 of 20 (95%) for new feeding jejunostomy and 17 of 21 (81%) for replacement feeding jejunostomy. Jejunostomy facilitated drainage, dilation, stone extraction, and recanalization in the bile ducts or intestine in all 13 patients. Retrograde jejunoesophagogastrostomy suction effectively replaced painful nasogastric suction in all eight patients. Two patients who underwent replacement jejunostomy required laparotomy for possible leakage; there was no important procedure-related morbidity and no procedure-related mortality. CONCLUSION The technical success and complication rates of feeding percutaneous jejunostomy compare favorably with those of surgery or endoscopy. Percutaneous jejunostomy is a useful and underused approach to managing bowel and biliary obstruction.
Effect of Meteorological Parameters on Acute Laryngitis in Adults

The aim of this study was to investigate the influence of weather conditions on the frequency of acute laryngitis in adults. The medical records of 825 patients with a diagnosis of acute laryngitis obtained over a 5-year period were reviewed. Meteorological data reviewed included the daily values of 13 parameters. The monthly distribution of the disease was assessed. In addition, a detailed 2-part statistical analysis was performed as follows: ( i ) the relationship between each meteorological parameter and the frequency of the disease was investigated, using contingency tables; and ( ii ) the 1825-day period was divided into 8 groups characterized by similar weather, using factor and cluster analysis, and the disease frequency in each group was assessed. Our observations were as follows: 1. Meteorological parameters, such as low temperature, low diurnal temperature range, low atmospheric pressure and low mean water vapor pressure, were associated with an increased occurrence of acute laryngitis. 2. Significant changes in maximum temperature or a significant drop in atmospheric pressure, as compared to the previous day's conditions, favored new cases of the disease. 3. The cold period of the year was associated with an almost two-fold increase in the frequency of disease cases, which peaked in March and reaching a minimum during August. 4. The peak frequency of cases was associated with winter weather conditions, which were characterized by high humidity readings. In conclusion, meteorological parameters, and their variation and covariation, are strongly associated with acute laryngitis in adults.
A soft decode-compress-forward relaying scheme for cooperative wireless networks

This paper introduces a new technique for soft information relaying (SIR) which is based on a soft decode-compress-forward (DCF) relay protocol. The proposed system provides a means of using distributed low-density parity-check (LDPC) coding in conjunction with higher order (M-ary PAM) modulation, which is effective even under poor source-relay link conditions. Ordinarily, such schemes suffer from error propagation to the destination caused by incorrect decoding at the relay when the signal-to-noise ratio (SNR) on the source-relay link is low; however, our system avoids this problem by generating soft versions of the additional (parity-bearing) PAM symbols for transmission from the relay. Furthermore, we propose a new model, which we refer to as the soft scalar model, for the soft symbols generated at the relay, and we appropriately modify the log-likelihood ratio (LLR) calculation at the destination. Simulation results demonstrate that the proposed scheme can maintain very good performance under poor source-relay SNR conditions.
Extracellular matrix and the myeloid‐in‐myeloma compartment: balancing tolerogenic and immunogenic inflammation in the myeloma niche

The last 10–15 years have witnessed a revolution in treating multiple myeloma, an incurable cancer of Ab‐producing plasma cells. Advances in myeloma therapy were ushered in by novel agents that remodel the myeloma immune microenvironment. The first generation of novel agents included immunomodulatory drugs (thalidomide analogs) and proteasome inhibitors that target crucial pathways that regulate immunity and inflammation, such as NF‐κB. This paradigm continued with the recent regulatory approval of mAbs (elotuzumab, daratumumab) that impact both tumor cells and associated immune cells. Moreover, recent clinical data support checkpoint inhibition immunotherapy in myeloma. With the success of these agents has come the growing realization that the myeloid infiltrate in myeloma lesions—what we collectively call the myeloid‐in‐myeloma compartment—variably sustains or deters tumor cells by shaping the inflammatory milieu of the myeloma niche and by promoting or antagonizing immune‐modulating therapies. The myeloid‐in‐myeloma compartment includes myeloma‐associated macrophages and granulocytes, dendritic cells, and myeloid‐derived‐suppressor cells. These cell types reflect variable states of differentiation and activation of tumor‐infiltrating cells derived from resident myeloid progenitors in the bone marrow—the canonical myeloma niche—or myeloid cells that seed both canonical and extramedullary, noncanonical niches. Myeloma‐infiltrating myeloid cells engage in crosstalk with extracellular matrix components, stromal cells, and tumor cells. This complex regulation determines the composition, activation state, and maturation of the myeloid‐in‐myeloma compartment as well as the balance between immunogenic and tolerogenic inflammation in the niche. Redressing this balance may be a crucial determinant for the success of antimyeloma immunotherapies.
Evaluation of FMH QuikQuant for the detection and quantification of fetomaternal hemorrhage

The Kleihauer–Betke test (KBT) is the most widely used assay for fetomaternal hemorrhage (FMH) detection in rhesus D negative women. In the current study, we sought to evaluate the performance of a flow cytometry (FCM) kit (FMH QuikQuant) using an anti‐HbF antibody.
Neurotoxicity Following Acute Inhalation Exposure to the Oil Dispersant COREXIT EC9500A

Consequent to the 2010 Deepwater Horizon oil spill in the Gulf of Mexico, there is an emergent concern about the short- and long-term adverse health effects of exposure to crude oil, weathered-oil products, and oil dispersants among the workforce employed to contain and clean up the spill. Oil dispersants typically comprise of a mixture of solvents and surfactants that break down floating oil to micrometer-sized droplets within the water column, thus preventing it from reaching the shorelines. As dispersants are generally sprayed from the air, workers are at risk for exposure primarily via inhalation. Such inhaled fractions might potentially permeate or translocate to the brain via olfactory or systemic circulation, producing central nervous system (CNS) abnormalities. To determine whether oil dispersants pose a neurological risk, male Sprague-Dawley rats were exposed by whole-body inhalation exposure to a model oil dispersant, COREXIT EC9500A (CE; approximately 27 mg/m3 × 5 h/d × 1 d), and various molecular indices of neural dysfunction were evaluated in discrete brain areas, at 1 or 7 d postexposure. Exposure to CE produced partial loss of olfactory marker protein in the olfactory bulb. CE also reduced tyrosine hydroxylase protein content in the striatum. Further, CE altered the levels of various synaptic and neuronal intermediate filament proteins in specific brain areas. Reactive astrogliosis, as evidenced by increased expression of glial fibrillary acidic protein, was observed in the hippocampus and frontal cortex following exposure to CE. Collectively, these findings are suggestive of disruptions in olfactory signal transduction, axonal function, and synaptic vesicle fusion, events that potentially result in an imbalance in neurotransmitter signaling. Whether such acute molecular aberrations might persist and produce chronic neurological deficits remains to be ascertained.
Influence of Screw Positioning in a New Anterior Spine Fixator on Implant Loosening in Osteoporotic Vertebrae

Study Design. A biomechanical study was designed to assess implant cut-out of three different angular stable anterior spinal implants. Subsidence of the implant relative to the vertebral body was measured during an in vitro cyclic loading test. Objectives. The objective of the study was to evaluate two prototypes (Synthes) of a new anterior spine fixator with different screw angulations in comparison to the established MACSTL® Twin Screw Concept (Aesculap). The influence of factors like load-bearing cross-sectional area, screw angulation and bone mineral density upon implant stability should be investigated. Summary of Background Data. Epidemiologic data predict a growing demand for appropriate anterior spinal fixation devices especially in patients with inferior structural and mechanical bone properties. Although different concepts for anterior spinal instrumentation systems have been tried out, implant stability is still a problem. Methods. Three angular stable, anterior spinal implants were tested using 24 human lumbar osteoporotic vertebrae (L1-L5; age 84 (73–92)): MASC TL system (Aesculap); prototype 1 (MP1) with 18° and prototype 2 (MP2) with 40° screw angulation (both Synthes). All implants consisted of two screws with different outer screw diameters: 7-mm polyaxial screw with 6.5-mm stabilization screw (MASC TL), two 5-mm locking-head screws each (MP1 and MP2). Bone mineral density (BMD) and vertebral body width of the three specimen groups were evenly distributed. The specimens were loaded in craniocaudal direction (1Hz) for 1000 cycles each at three consecutive load steps; 10–100 N, 10–200 N and 10–400 N. During cyclic loading subsidence of the implant relative to the vertebral body was measured in the unloaded condition. Cycle number at failure (defined as a subsidence of 2 mm) was determined for each specimen. A survival analysis (Cox Regression) was performed to detect differences between implant groups at a probability level of 95%. Results. High correlations were found between BMD and number of cycles until failure (MP1; r = 0.905, P = 0.013; MP2: r = 0.640, P = 0.121; MACS TL: r = 0.904, P = 0.013) and between load bearing cross sectional area and number of cycles until failure (MP1: r = 0.849, P = 0.032;MP2: r = 0.692, P = 0.085; MACS TL: r = 0.902, P = 0.014). Both Prototypes survived significantly longer than the MACS TL implant (MP1: P = 0.012, MP2: P = 0.014). The survival behaviour of MP1 and MP2 was not significantly different (P = 0.354). Conclusions. Implant stability within each implant group was influenced by BMD and load bearing cross-sectional area. The angulation of the two screws did not have a significant influence on cut-out. As conclusion from this study, promising approaches for further implant development are: 1) increase of load-bearing cross-sectional area (e.g., larger outer diameter of the anchorage device), 2) screw positioning in areas of higher BMD (e.g., opposite cortex, proximity to pedicles or the endplates).
The evolving epidemiology of valvular aortic stenosis. The Tromsø Study

Objective To assess prevalence, incidence, prognosis and progression of degenerative valvular aortic stenosis (AS). Setting The Tromsø Study and the University Hospital of North Norway. Design Population based prospective study. Population Over a 14 year span we performed three repeated echocardiographic examinations (1994, 2001 and 2008) of a random sample of initially 3273 participants. Data from the only hospital serving this population were included. Results There were 164 subjects with AS. Prevalence consistently increased with age, average values being 0.2% in the 50–59 year cohort, 1.3% in the 60–69 year cohort, 3.9% in the 70–79 year cohort and 9.8% in the 80–89 year cohort. The incidence rate in the study was 4.9‰/year. The mean annual increase in mean transvalvular pressure gradient was 3.2 mm Hg. The increase was lower in mild AS than in more severe disease, disclosing a non-linear development of the gradient, but with large individual variations. Mortality was not significantly increased in the asymptomatic AS-group (HR=1.28), nor in those who received aortic valve replacement (n=34, HR=0.93), compared with the general population. Conclusion This is the first study to document the incidence and prognosis of AS in a general population with surgery as a treatment option. It reveals an accelerated progression of the aortic mean gradient as the disease advances. The prognosis of AS seems to be comparable with the normal population in the asymptomatic stage and after successful surgery, indicating that the follow-up and timing of surgery has been adequate for this patient group.
Hydraulic Conductivity of a Firn Aquifer in Southeast Greenland

Some regions of the Greenland ice sheet, where snow accumulation and melt rates are high, currently retain substantial volumes of liquid water within the firn pore space throughout the year. These firn aquifers, found between ~10-30 m below the snow surface, may significantly affect sea level rise by storing or draining surface meltwater. The hydraulic gradient and the hydraulic conductivity control flow of meltwater through the firn. Here we describe the hydraulic conductivity of the firn aquifer estimated from slug tests and aquifer tests at six sites located upstream of Helheim Glacier in southeastern Greenland. We conducted slug tests using a novel instrument, a piezometer with a heated tip that melts itself into the ice sheet. Hydraulic conductivity ranges between 2.5x10-5 and 1.1x10-3 m/s. The geometric mean of hydraulic conductivity of the aquifer is 2.7x10-4 m/s with a geometric standard deviation of 1.4 from both depth specific slug tests (analyzed using the Hvorslev method) and aquifer tests during the recovery period. Hydraulic conductivity is relatively consistent between boreholes and only decreases slightly with depth. The hydraulic conductivity of the firn aquifer is crucial for determining flow rates and patterns within the aquifer, which inform hydrologic models of the aquifer, its relation to the broader glacial hydrologic system, and its effect on sea level rise.