Miracle-dz/UniFAR-FTUs huggingface dataset:
Compound heterozygosity for a novel nine‐nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard‐Soulier syndrome

Bernard‐Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow‐cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine‐nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine‐nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Am. J. Hematol. 78:41–48, 2005. © 2004 Wiley‐Liss, Inc.
Détermination Du Seuil De Viabilité De La Position Extérieure Au Maroc: Evaluation Empirique

This paper focuses on addressing question on the sustainability of the Moroccan current account. The purpose of this study is to examine theoretical and empirical determinants of the behaviour of the current account deficit in order to apprehend economic policy decisions. An econometric study was conducted in this sense using a vector error-correction model (VECM) during the period (2004Q1-2013Q4). This technique enabled the capture of the longterm relationship. the impact of explanatory variables on the current account was also examined. The examination of the sustainability threshold calculated by the Reisena method revealed that signs of unsustainability have emerged since 2008, which is in line with the results of MFR. However, it is only in 2011 that the current account exhibits deficits that largely exceed the optimal threshold, exposing the national economy to greater vulnerability.
Heart Rhythm During Syncope and Presyncope: Results of Implantable Loop Recorders

NIEROP, P.R. , et al.: Heart Rhythm During Syncope and Presyncope: Results of Implantable Loop Recorders. Ambulatory ECG monitoring in patients with recurrent syncope is nondiagnostic in the majority of cases. Recently, an ECG implantable loop recorder (ILR) has been introduced. The ILR performs continuous ECG monitoring over a period of at least 14 months. From February 1997 to September 1999, 35 patients underwent implantation of an ILR. During a mean follow‐up of 11 ± 8 months, 24 (69%) patients had recurrent syncope or presyncope events. Four (11%) patients were not capable of activating the ILR to save the event. A symptom‐rhythm correlation could be studied in 20 (83%) of 24 patients. Forty of 44 recurrences were captured by the ILR. There were 14 (40%) patients with at least one syncopal episode. An arrhythmic cause for syncope was found in eight of them (bradycardia in four and tachycardia in four). In the other six patients the heart rhythm was normal. In 17 (49%) patients with 1‐year follow‐up, the mean syncope event rate 12 months before ILR implantation was 4.7 ± 2.4, whereas the mean syncope event rate 12 months after ILR implantation was 1.3 ± 0.7 (P < 0.01). Resolution of symptoms was observed in 6 (17%) patients. These patients were significantly younger than patients without resolution (50 ± 18 vs 69 ± 14 years, p < 0.01) and five were women. Three (9%) patients died during follow‐up, all of them were noncompliant during their follow‐up. In conclusion, the ILR made symptom—rhythm correlation possible in 83% of patients with recurrent syncope. Syncope recurrences decreased significantly after implantation of the device, especially in the younger patients. Noncompliant patients had a high mortality rate.
Ovulation induction with myo-inositol alone and in combination with clomiphene citrate in polycystic ovarian syndrome patients with insulin resistance

Abstract Background: Insulin resistance plays a key role in the pathogenesis of polycystic ovarian syndrome (PCOS). One of the methods for correcting insulin resistance is using myo-inositol. Aim: The aim of the present study is to evaluate the effectiveness of myo-inositol alone or in combination with clomiphene citrate for (1) induction of ovulation and (2) pregnancy rate in anovulatory women with PCOS and proven insulin resistance. Patients and methods: This study included 50 anovulatory PCOS patients with insulin resistance. All of them received myo-inositolduring three spontaneous cycles. If patients remained anovulatory and/or no pregnancy was achieved, combination of myo-inositol and clomiphene citrate was used in the next three cycles. Ovulation and pregnancy rate, changes in body mass index (BMI) and homeostatic model assessment (HOMA) index and the rate of adverse events were assessed. Results: After myo-inositol treatment, ovulation was present in 29 women (61.7%) and 18 (38.3%) were resistant. Of the ovulatory women, 11 became pregnant (37.9%). Of the 18 myo-inositol resistant patients after clomiphene treatment, 13 (72.2%) ovulated. Of the 13 ovulatory women, 6 (42.6%) became pregnant. During follow-up, a reduction of body mass index and HOMA index was also observed. Conclusion: Myo-inositol treatment ameliorates insulin resistance and body weight, and improves ovarian activity in PCOS patients.
Plasma renin in mice with one or two renin genes.

AIM In the present study we have investigated whether the presence of a second renin gene exerts an overriding influence on plasma renin such that mice with two renin genes have consistently higher renin levels than mice with only one renin gene. METHODS Plasma renin was determined as the rate of angiotensin I generation using a radioimmunoassay (RIA) kit with (plasma renin concentration, PRC) or without (plasma renin activity, PRA) the addition of purified rat angiotensinogen as substrate. RESULTS In male 129SvJ, DBA/2 and Swiss Webster mice, strains possessing both Ren-1 and Ren-2, PRC (ng Ang I mL(-1) h(-1)) averaged 178 +/- 36, 563 +/- 57 and 550 +/- 43 while PRA was 2.9 +/- 0.5, 3.6 +/- 0.8 and 7.8 +/- 1.2. In male C57BL/6, C3H and BALB/c mice that express only Ren-1, PRC averaged 426 +/- 133, 917 +/- 105 and 315 +/- 72, and PRA was 3.4 +/- 1.0, 6.9 +/- 1.7 and 4.5 +/- 1.2. In the two renin gene A1AR-/- mice compared with the one renin gene A1AR+/+, PRC averaged 538 +/- 321 and 415 +/- 159 while PRA averaged 3.2 +/- 1.1 and 4.4 +/- 1.4 ng Ang I mL(-1) h(-1). Aldosterone levels showed no significant differences between one renin (C57BL/6, C3H and BALB/c) and two renin (129SvJ, DBA/2 and Swiss Webster) gene mice. Furthermore, by quantitative real-time polymerase chain reaction (RT-PCR) we found no correlation between the number of renin genes and whole kidney renin mRNA levels from one and two renin gene mice. CONCLUSION Our data show that baseline plasma renin is not systematically higher in mice with two renin genes than in one renin gene mice. Thus, the presence of a second renin gene does not seem to be a major determinant of differences in PRC between different mouse strains.
Depression in Later Life : A Diagnostic and Therapeutic Challenge

persons living in the community have major depression, and 75 percent initially present to a primary care physician. Recurrence may be as high as 40 percent. Suicide rates are nearly twice as high in depressed patients as in the general population. Sixty-three percent of persons who commit suicide are white, elderly men, and 85 percent of them have an associated psychiatric or physical illness. Approximately 75 percent of elderly persons who commit suicide had visited a primary care physician within the preceding month, but their symptoms were not recognized or treated. Depression is the most common diagnosis in older persons who commit suicide; in younger persons who commit suicide, the most common diagnoses are substance abuse and psychosis, alone or in combination with a mood disorder. Risk factors for depression in elderly persons include a history of depression, chronic medical illness, female sex, being single or divorced, brain disease, alcohol abuse, use of certain medications, and stressful life events. Up to 15 percent of widowed adults have potentially serious depression for a year or longer after the death of a spouse. Unlike younger persons with depression, elderly persons with depression usually have a medical comorbidity. Major depression is more common in medically ill patients who are older than 70 years and hospitalized or institutionalized. Severe or chronic diseases D epression is not a normal part of aging. The lack of connection between health care and mental health providers has created a fragmented system of care for depressed elderly patients that is often inadequate. Concurrent medical problems and lower functional expectations of elderly patients often obscure the degree of impairment. Typically, elderly patients with depression do not report depressed moods but instead present with less specific symptoms such as insomnia, anorexia, and fatigue. Elderly persons sometimes dismiss less severe depression as an acceptable response to life stress or a normal part of aging. Depression costs $43 billion annually in the United States, in direct and indirect costs—about the same as coronary heart disease.
Influence of the composition of Alpine highland pasture on the chemical, rheological and sensory properties of cheese

A study was undertaken to compare the chemical and sensory characteristics of Abondance cheeses made with milk from animals grazing areas within the same highland pasture, but with different predominant plants. Nine cheeses made during the last 3 d of three successive 7 d periods were evaluated. The animals grazed on the southern side of the highland pasture during the first period (15–21 June), on the northern side during the second period (22–29 June) and returned to the southern side for the third period (30 June–6 July). The gross composition of the cheeses did not vary between periods. ‘North’ cheeses contained more plasmin, γ-casein, αs1-I-casein and water-soluble N than ‘south’ cheeses. Both sensory and instrumental measurements indicated that north cheeses were less firm, stickier and more easily fractured than south cheeses. North cheeses were also more salty, bitter and persistent. Their overall aroma was more intense and they had more intense sour, burnt, toasted, fermented vegetable and sweat aromas, but less intense toffee, exotic fruit and acid milk aromas. The texture differences noted between the cheeses from milk produced on the two areas may come from differences in primary proteolysis, partly due to different amounts of plasmin and plasminogen in milk and in cheeses. The aroma differences were related to differences in volatile compounds. Some compounds had a microbial origin, while some others may have come from the pasture.
Consequences of Participation in Interscholastic Sports

Very few sociological studies on the role of athletics in high schools appear to have been done prior to 1960. Since that time, a considerable amount of work has appeared, with generally consistent findings on certain aspects of high school athletics. The research the authors are presently doing involves an effort to explain one of those consistent findings-the fact that athletes tend to exceed comparable nonathletes in their achievement of educational goals. In this paper, we will review the evidence on the academic achievement of high school athletes, discuss our efforts to employ the concept of subculture to explain the advantage that athletes enjoy and, finally, speculate on possible broader applications of the kind of work we have been doing.
Effects of mechanical loading on collagen propeptides processing in cartilage repair

Injured articular cartilage has poor reparative capabilities and if left untreated may develop into osteoarthritis. Unsatisfactory results with conventional treatment methods have brought as an alternative treatment the development of matrix autologous chondrocyte transplants (MACTs). Recent evidence proposes that the maintenance of the original phenotype by isolated chondrocytes grown in a scaffold transplant is linked to mechanical compression, because macromolecules, particularly collagen, of the extracellular matrix have the ability to ‘self‐assemble’. In load‐bearing tissues, collagen is abundantly present and mechanical properties depend on the collagen fibre architecture. Study of the active changes in collagen architecture is the focus of diverse fields of research, including developmental biology, biomechanics and tissue engineering. In this review, the structural model of collagen assembly is presented in order to understand how scaffold geometry plays a critical role in collagen propeptide processing and chondrocyte development. When physical forces are applied to different cell‐based scaffolds, the resulting specific twist of the scaffolds might be accompanied by changes in the fibril pattern synthesis of the new collagen. The alteration in the scaffolds due to mechanical stress is associated with cellular signalling communication and the preservation of N‐terminus procollagen moieties, which would regulate both the collagen synthesis and the diameter of the fibre. The structural difference would also affect actin stabilization, cytoskeleton remodelling and proteoglycan assembly. These effects seemed to be dependent on the magnitude and duration of the physical stress. This review will contribute to the understanding of mechanisms for collagen assembly in both a natural and an artificial environment. Copyright © 2009 John Wiley & Sons, Ltd.
Short Stature, Growth Hormone Deficiency, and Social Anxiety

Objective We have reported high rates of social phobia in growth hormone-deficient (GHD) adults who had been treated with growth hormone during childhood. This follow-up study was conducted to determine whether the increased social phobia observed in GHD subjects was secondary to the effects of short stature. Methods Twenty-one age- and sex-matched non-GHD short adults were evaluated for social anxiety and compared with the previously studied 21 GHD subjects. Results Thirty-eight per cent (8 of 21) of GHD and 10% (2 of 21) of short subjects met DSM-III-R criteria for social phobia. GHD subjects scored significantly higher than short subjects on the following self-report questionnaires: Fear of Negative Evaluation (p = .03), Fear Questionnaire (p = .01), Social Avoidance and Distress Scale (p = .01), Beck Depression Inventory (p = .007), and the Tridimensional Personality Questionnaire-harm avoidance subscale (p = .0004). Conclusions These data suggest that the high prevalence of social phobia in GHD adults is not explained by short stature alone.
Effect of Metformin on Postprandial Lipemia in Patients With Fairly to Poorly Controlled NIDDM

OBJECTIVE To quantify the effect of metformin on the metabolism of triglyceride (TG)-rich lipoprotein of intestinal origin in patients with non-insulin-dependent diabetes mellitus (NIDDM) who had responded to sulfonylurea but still had fasting hyperglycemia. RESEARCH DESIGN AND METHODS Sixteen patients with NIDDM who had demonstrated a fall in fasting plasma glucose concentration > 2.2 mmol/l in response to glipizide treatment but continued to have fasting plasma glucose concentrations > 8.3 mmol/l were studied. Fasting glucose, GHb, lipid and lipoprotein concentrations were determined, and resistance to insulin-mediated glucose disposal was estimated by measuring the steady-state plasma glucose (SSPG) concentration at the end of a 180-min infusion of somatostatin, glucose, andinsulin. In addition, plasma glucose, insulin, and TG concentrations were measured at frequent intervals from 0800 to 2400, with patients eating breakfast at 0800 and lunch at 1200. Vitamin A was also given at lunch, and the retinyl ester content in plasma and in chylomicron (Svedberg flotation constant [Sr] > 400) and the chylomicron remnant (Sr 20–400) fractions were used to quantify the concentration of postprandial intestinal TG-rich lipoprotein from 1200 to 2400. RESULTS Fasting plasma glucose concentrations (6.8 ± 0.4 vs. 10.5 ± 0.4 mmol/l), GHb levels (7.9 ± 0.3 vs. 10.8 ± 0.5%), and day-long plasma glucose concentrations were all significantly lower after metformin treatment (P < 0.001), which was associated with a significant (P < 0.001) fall in SSPG concentration (11.0 ± 0.9 to 9.6 ± 0.6 mmol/l). In addition, postprandial concentrations of glucose, insulin, free fatty acids, and TG were lower (P < 0.001) following metformin treatment. Postprandial retinyl ester concentrations were also lower in plasma by 33 ± 5.7% (P < 0.001) and in both the chylomicron (32 ± 7.2%, P < 0.001) and chylomicron remnant (26 ± 7.0%, P < 0.005) fractions. CONCLUSIONS Addition of metformin to sulfonylurea-treated patients with NIDDM with less than optimal glycemic control was associated with improved glycemic control, lower postprandial insulin and TG concentrations, and a decrease inpostprandial concentration of TG-rich lipoproteins of intestinal origin. All of these changes might be expected to decrease risk of coronary heart disease.
Electrophysiologically “complex” glial cells freshly isolated from the hippocampus are immunopositive for the chondroitin sulfate proteoglycan NG2

We have recently described a subgroup of isolated glial fibrillary acidic protein‐positive (GFAP+) hippocampal astrocytes that predominantly express outwardly rectifying currents (which we term “ORAs” for outwardly rectifying astrocytes), which are similar to the currents already described for hippocampal GFAP− “complex glia. ” We now report that post‐recording staining of cells that were first selected as “complex” by morphology and then confirmed by their electrophysiological characteristics were NG2+ ∼90% of the time. Also, the morphology of freshly isolated NG2+ cells differs from that of isolated GFAP+ ORAs in having a smaller and round cell body with thinner processes, which usually are collapsed back onto the soma. Upon detailed examination, NG2+ cells were found to differ quantitatively in some electrophysiological characteristics from GFAP+ ORAs. The outward, transient K+ currents (IKa) in the NG2+ cells showed a slower decay than the IKa in ORAs, and their density decreased in NG2+ cells from older animals. The other two major cation currents, the voltage‐activated Na+ and outwardly delayed rectifier K+ currents, were similar in NG2+ cells and ORAs. To further distinguish isolated complex cells from outwardly rectifying GFAP+ astrocytes, we performed immunocytochemistry for glial markers in fixed, freshly isolated rat hippocampal glia. NG2+ cells were negative for GFAP and also for the astrocytic glutamate transporters GLT‐1 and GLAST. Thus the isolated hippocampal NG2+ glial cells, though having an electrophysiological phenotype similar to that of ORAs, are an immunologically and morphologically distinct glial cell population and most likely represent NG2+ cells in situ. © 2003 Wiley‐Liss, Inc.
Synaptic organization of thalamocortical axon collaterals in the perigeniculate nucleus and dorsal lateral geniculate nucleus

We examined the synaptic targets of large non‐γ‐aminobutyric acid (GABA)‐ergic profiles that contain round vesicles and dark mitochondria (RLD profiles) in the perigeniculate nucleus (PGN) and the dorsal lateral geniculate nucleus (dLGN). RLD profiles can provisionally be identified as the collaterals of thalamocortical axons, because their ultrastrucure is distinct from all other previously described dLGN inputs. We also found that RLD profiles are larger than cholinergic terminals and contain the type 2 vesicular glutamate transporter. RLD profiles are distributed throughout the PGN and are concentrated within the interlaminar zones (IZs) of the dLGN, regions distinguished by dense binding of Wisteria floribunda agglutinin (WFA). To determine the synaptic targets of thalamocortical axon collaterals, we examined RLD profiles in the PGN and dLGN in tissue stained for GABA. For the PGN, we found that all RLD profiles make synaptic contacts with GABAergic PGN somata, dendrites, and spines. In the dLGN, RLD profiles primarily synapse with GABAergic dendrites that contain vesicles (F2 profiles) and non‐GABAergic dendrites in glomerular arrangements that include triads. Occasional synapses on GABAergic somata and proximal dendrites were also observed in the dLGN. These results suggest that correlated dLGN activity may be enhanced via direct synaptic contacts between thalamocortical cells, whereas noncorrelated activity (such as that occurring during binocular rivalry) could be suppressed via thalamocortical collateral input to PGN cells and dLGN interneurons. J. Comp. Neurol. 508:264–285, 2008. © 2008 Wiley‐Liss, Inc.
Feline Vaccine-associated Fibrosarcoma: Morphologic Distinctions

Forty-four primary feline vaccine-associated fibrosarcomas and 16 recurrences were examined histologically for detailed morphologic characterization with emphasis on tumor grade, presence of neoplastic multinucleated giant cells, presence and proportion of T and B lymphocytes within the tumor, and thin and intermediate filament contents of neoplastic and stromal cells. The microvascularity and proliferation rates of central and peripheral areas of the tumors were also quantified by computerized image analysis. For primary fibrosarcomas, 11 of 44 (25%) were grade I, 21 of 44 (47.7%) were grade II, and 12 of 44 (27.3%) were grade III. The recurrences followed a similar pattern: 4 of 16 (25%) were grade I, 8 of 16 (50%) were grade II, and 4 of 16 (25%) were grade III. A positive correlation was found between the presence of neoplastic multinucleated giant cells and tumor grade. These cells were present in 9 of 12 (75%) of grade III and none of the grade I tumors. Prominent peritumoral lymphoid aggregates or follicles were present in 59% of the tumors, and many contained high proportions of T lymphocytes, varying from 19 to 87%. All fibrosarcomas were immunoreactive for vimentin and 28 of 44 (64%) were reactive for α-smooth muscle actin. The actin-positive cells were either part of the tumor or formed a capsule around tumor nodules. The peripheral vascularity was significantly higher than the central vascular density but no difference was found in tumor cell proliferation rates between the two areas. Centrally located, fluid-filled micro- or macrocavitations were frequently observed in the large vaccine sarcomas and probably formed secondary to rapid tumor growth and central necrosis.