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Sample records for female fabry patients

  1. X-chromosome inactivation in female patients with Fabry disease.

    PubMed

    Echevarria, L; Benistan, K; Toussaint, A; Dubourg, O; Hagege, A A; Eladari, D; Jabbour, F; Beldjord, C; De Mazancourt, P; Germain, D P

    2016-01-01

    Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X-chromosome inactivation (XCI) in females with FD, its concordance between tissues, and its contribution to the phenotype. Fifty-six females with FD were enrolled. Clinical and biological work-up included two global scores [Mainz Severity Score Index (MSSI) and DS3], cardiac magnetic resonance imaging, measured glomerular filtration rate, and measurement of α-Gal activity. XCI was analyzed in four tissues using DNA methylation studies. Skewed XCI was found in 29% of the study population. A correlation was found in XCI patterns between blood and the other analyzed tissues although some punctual variability was detected. Significant differences in residual α-Gal levels, severity scores, progression of cardiomyopathy and deterioration of kidney function, depending on the direction and degree of skewing of XCI were evidenced. XCI significantly impacts the phenotype and natural history of FD in females. PMID:25974833

  2. Identification of mutations in Colombian patients affected with Fabry disease.

    PubMed

    Uribe, Alfredo; Mateus, Heidi Eliana; Prieto, Juan Carlos; Palacios, Maria Fernanda; Ospina, Sandra Yaneth; Pasqualim, Gabriela; da Silveira Matte, Ursula; Giugliani, Roberto

    2015-12-15

    Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions. PMID:26297554

  3. No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

    PubMed Central

    de Greef, Bianca T. A.; Hoeijmakers, Janneke G. J.; Wolters, Emma E.; Smeets, Hubertus J. M.; van den Wijngaard, Arthur; Merkies, Ingemar S. J.; Faber, Catharina G.; Gerrits, Monique M.

    2016-01-01

    Objective Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigated. Our aim is to determine the presence of Fabry disease in patients with small fiber neuropathy. Methods Patients referred to our institute, who met the criteria for isolated small fiber neuropathy were tested for Fabry disease by measurement of alpha-Galactosidase A activity in blood, lysosomal globotriaosylsphingosine in urine and analysis on possible GLA gene mutations. Results 725 patients diagnosed with small fiber neuropathy were screened for Fabry disease. No skin abnormalities were seen except for redness of the hands or feet in 30.9% of the patients. Alfa-Galactosidase A activity was tested in all 725 patients and showed diminished activity in eight patients. Lysosomal globotriaosylsphingosine was examined in 509 patients and was normal in all tested individuals. Screening of GLA for mutations was performed for 440 patients, including those with diminished α-Galactosidase A activity. Thirteen patients showed a GLA gene variant. One likely pathogenic variant was found in a female patient. The diagnosis Fabry disease could not be confirmed over time in this patient. Eventually none of the patients were diagnosed with Fabry disease. Conclusions In patients with isolated small fiber neuropathy, and no other signs compatible with Fabry disease, the diagnostic yield of testing for Fabry disease is extremely low. Testing for Fabry disease should be considered only in cases with additional characteristics, such as childhood onset, cardiovascular disease, renal failure, or typical skin lesions. PMID:26866599

  4. Coronary artery bypass graft in a patient with Fabry's disease.

    PubMed

    Osada, Hiroaki; Kanemitsu, Naoki; Kyogoku, Masahisa

    2016-01-01

    Fabry's disease is a lysosomal storage disease characterized by intracellular accumulation of ceramide trihexoside resulting from alpha-galactosidase A deficiency. While the heart is often involved, coronary artery disease and its management in Fabry's disease patients are extremely rare clinical entities. We report a case of a 72-year-old man with left main disease in Fabry's disease with special consideration of the arterial wall pathology. PMID:27131517

  5. Gastrointestinal Symptoms of Patients with Fabry Disease

    PubMed Central

    Pensabene, Licia; Sestito, Simona; Nicoletti, Angela; Graziano, Francesca; Strisciuglio, Pietro; Concolino, Daniela

    2016-01-01

    In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4–70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults and 2/8 of these children, the symptoms mimicked FGID. The adult subgroup included patients with unspecified functional bowel disorder (n = 9), functional bloating (n = 7), and IBS (n = 5), and the child subgroup included patients with abdominal migraine (n = 1) and IBS (n = 1). Among the 25 adults, 14 reported feeling full after a regular-size meal, and 12 complained of abdominal bloating/distension. All of the children with GI symptoms complained of low abdominal pain associated with changes in the form of the stool/improvements with defecation. In conclusion, according to Rome III criteria, the most frequent diagnoses of FGID among the adults with FD were unspecified functional bowel disorder, followed by functional bloating and IBS. The most frequent GI symptom in the children in our population was IBS-like abdominal pain, while the adults exhibited a full feeling following a regular-size meal and abdominal bloating/distension. PMID:26880903

  6. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

    NASA Astrophysics Data System (ADS)

    Alharbi, Fahad J.; Geberhiwot, Tarekegn; Hughes, Derralynn A.; Ward, Douglas G.

    2016-04-01

    Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish.

  7. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients.

    PubMed

    Alharbi, Fahad J; Geberhiwot, Tarekegn; Hughes, Derralynn A; Ward, Douglas G

    2016-04-01

    Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish. Graphical Abstract ᅟ. PMID:26797827

  8. Genomic analysis of Brazilian patients with Fabry disease.

    PubMed

    Pereira, F S; Jardim, L B; Netto, C B; Burin, M G; Cecchin, C; Giugliani, R; Matte, U S

    2007-12-01

    Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males. Our objective was to describe the analysis of 6 male and 7 female individuals belonging to 4 different Fabry disease families by automated sequencing of the seven exons of the alpha-galactosidase gene. Sequencing was performed using PCR fragments for each exon amplified from DNA extracted from peripheral blood. Three known mutations and one previously described in another Brazilian family were detected. Of 7 female relatives studied, 4 were carriers. Although the present study confirms the heterogeneity of mutations in Fabry disease, the finding of the same mutation previously detected in another Fabry family from our region raises the possibility of some founder effect, or genetic drift. Finally, the present study highlights the importance of molecular analysis for carrier detection and genetic counseling. PMID:17713670

  9. The neurocognitive impact of Fabry disease on pediatric patients.

    PubMed

    Bugescu, Nicolle; Alioto, Andrea; Segal, Summer; Cordova, Matthew; Packman, Wendy

    2015-04-01

    Fabry disease (FD) is an X-linked lysosomal storage disorder that results in progressive multisystemic organ complications. Several studies have examined neurocognitive impairments in adults; however, there is a paucity of research examining neurocognitive functioning in children with FD. This is the first exploratory study to examine the neurocognitive functioning of pediatric patients with FD and to evaluate the effects of enzyme replacement therapy (ERT) on neurocognitive functioning within this population. Families attending a national conference with at least one child with FD and one parent affected by FD comprised the sample (n = 48; 24 pediatric patients, 24 parents). Pediatric participants (10 males, 14 females) between the ages of 6 and 18 years and their parent(s) were involved in the study. Data from a demographic questionnaire and two neurocognitive self-report and parent-report measures were analyzed. Parent reports of neurocognitive functioning were also compared to a sample of children with and without head injury and to a sample of children who had undergone liver transplant (LT). Children with FD had poorer cognitive and executive functioning than healthy peers, and were comparable to children with head injury and LT. In addition, children using ERT had higher scores on measures of overall cognitive functioning, as well as fewer problems with attention/working memory and executive functioning. Results of this study suggest that children with FD may exhibit poorer cognitive and executive functioning relative to healthy peers. The use of ERT may mitigate the negative impact of FD on neurocognitive functioning in pediatric patients. PMID:25739920

  10. Podocyte Injury and GL-3 Accumulation are Progressive in Young Patients with Fabry Disease

    PubMed Central

    Najafian, Behzad; Svarstad, Einar; Bostad, Leif; Gubler, Marie-Claire; Tøndel, Camilla; Whitley, Chester; Mauer, Michael

    2013-01-01

    Progressive renal failure often complicates Fabry’s disease. However, the pathogenesis of Fabry nephropathy is not well understood. We applied unbiased stereological methods to the study of the electron microscopic changes of Fabry nephropathy and the relationship between glomerular structural parameters and renal function in young Fabry patients. Renal biopsies from 14 (M/F=8/6) enzyme replacement therapy (ERT)-naive Fabry patients (median age 12 years; range 4–19 years) and 9 (M/F=6/3) normal living kidney donor control subjects were studied. Podocyte GL-3 inclusion volume density [Vv(Inc/PC)] increased progressively with age, while there was no significant relationship between age and endothelial [Vv(Inc/Endo)] or mesangial [Vv(Inc/Mes)] inclusion volume densities. Foot process width which was greater in male Fabry patients vs. controls also progressively increased with age, and correlated directly with proteinuria. Endothelial fenestration was reduced in Fabry patients vs. controls. These studies are the first to show relationships between quantitative glomerular structural parameters of Fabry nephropathy and urinary protein excretion. The parallel progression with increasing age in podocyte GL-3 accumulation, foot process widening and proteinuria, strongly suggest that podocyte injury may play a pivotal role in the development and progression of Fabry nephropathy. PMID:21160462

  11. Fabry in the older patient: Clinical consequences and possibilities for treatment.

    PubMed

    Lidove, Olivier; Barbey, Frédéric; Niu, Dau-Ming; Brand, Eva; Nicholls, Kathleen; Bizjajeva, Svetlana; Hughes, Derralynn A

    2016-08-01

    Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later life. Age groups were defined using age at treatment initiation or at FOS entry for untreated patients: 18-49 (n=1344; 49.5% male; 64.6% received agalsidase alfa enzyme replacement therapy [ERT]); 50-64 (n=537; 35.4% male; 74.3% treated); 65-74 (n=137; 32.1% male; 68.6% treated); and ≥75years (n=26; 26.9% male; 50.0% treated). Successive age groups showed higher median age at first symptom and diagnosis. Median alpha-galactosidase A activity, measured as percentage activity of the midpoint of the normal range, was much greater in females than males of all groups except ≥75years (33.4% in females; 27.8% in males). Patients aged ≥75years showed greater values than patients aged 18-49years for median left ventricular mass indexed to height (62.7 vs 42.4g/m(2.7)), mean ventricular wall thickness (15.0 vs 10.0mm) and prevalence of hypertension (57.7% vs 21.8%), and lower median estimated glomerular filtration rate (Modification of Diet in Renal Disease: 65.6 vs 98.5mL/min/1.73m(2)). Larger proportions in the groups aged ≥50 exhibited cardiac and/or cerebrovascular manifestations compared with patients aged 18-49years. The smaller proportion of patients receiving ERT aged ≥75years compared with the younger groups might reflect relatively milder disease burden or physician/patient reluctance to initiate/continue ERT at this age. Further studies are needed to increase knowledge of Fabry disease and ERT in later life. PMID:27221354

  12. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

    PubMed Central

    Ortiz, Alberto; Abiose, Ademola; Bichet, Daniel G; Cabrera, Gustavo; Charrow, Joel; Germain, Dominique P; Hopkin, Robert J; Jovanovic, Ana; Linhart, Aleš; Maruti, Sonia S; Mauer, Michael; Oliveira, João P; Patel, Manesh R; Politei, Juan; Waldek, Stephen; Wanner, Christoph; Yoo, Han-Wook; Warnock, David G

    2016-01-01

    Background Agalsidase β is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular events. In clinical trials, agalsidase β cleared glycolipid deposits from endothelial cells within 6 months; clearance from other cell types required sustained treatment. We hypothesised that there might be a ‘lag time’ to clinical benefit after initiating agalsidase β treatment, and analysed the incidence of severe clinical events over time in patients receiving agalsidase β. Methods The incidence of severe clinical events (renal failure, cardiac events, stroke, death) was studied in 1044 adult patients (641 men, 403 women) enrolled in the Fabry Registry who received agalsidase β (average dose 1 mg/kg every 2 weeks) for up to 5 years. Results The incidence of all severe clinical events was 111 per 1000 person-years (95% CI 84 to 145) during the first 6 months. After 6 months, the incidence decreased and remained stable within the range of 40–58 events per 1000 patient-years. The largest decrease in incidence rates was among male patients and those aged ≥40 years when agalsidase β was initiated. Conclusions Contrary to the expected increased incidence of severe clinical events with time, adult patients with Fabry disease had decreased incidence of severe clinical events after 6 months treatment with agalsidase β 1 mg/kg every 2 weeks. Trial registration number NCT00196742. PMID:26993266

  13. Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case–control study

    PubMed Central

    2013-01-01

    Background Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (PREP). Methods In this case–control study we prospectively studied 76 consecutive Fabry patients for electrical small fiber conduction in correlation with small fiber function and morphology. Data were compared with healthy controls using non-parametric statistical tests. All patients underwent neurological examination and were investigated with pain and depression questionnaires. Small fiber function (quantitative sensory testing, QST), morphology (skin punch biopsy), and electrical conduction (PREP) were assessed and correlated. Patients were stratified for gender and disease severity as reflected by renal function. Results All Fabry patients (31 men, 45 women) had small fiber neuropathy. Men with Fabry disease showed impaired cold (p < 0.01) and warm perception (p < 0.05), while women did not differ from controls. Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function. When investigating A-delta fiber conduction with PREP, men but not women with Fabry disease had lower amplitudes upon stimulation at face (p < 0.01), hands (p < 0.05), and feet (p < 0.01) compared to controls. PREP amplitudes further decreased with advance in disease severity. PREP amplitudes and warm (p < 0.05) and cold detection thresholds (p < 0.01) at the feet correlated positively in male patients. Conclusion Small fiber conduction is impaired in men with Fabry disease and worsens with advanced disease severity. PREP are well-suited to measure A-delta fiber conduction. PMID:23705943

  14. Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

    PubMed

    Huzmeli, Can; Candan, Ferhan; Alaygut, Demet; Bagci, Gokhan; Akkaya, Lale; Bagci, Binnur; Sozmen, Eser Yıldırım; Kurtulgan, Hande Kucuk; Kayatas, Mansur

    2016-08-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF. PMID:27105876

  15. Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease

    PubMed Central

    Umeda, Toshiko; Hashimoto, Seiji; Noriyasu, Kazuyuki; Takamura, Ayumi; Fujisaki, Miwa; Eto, Yoshikatsu

    2015-01-01

    Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism caused by a mutation in the GLA gene. We sequenced the α-galactosidase A gene (GLA) of a patient who had been clinically diagnosed with late-onset Fabry disease. Abundant globotriaosylceramide was present in his urine, which indicated typical Fabry disease. Here, we report a novel hemizygous mutation, c.207C>A (Phe69 Leu), which caused a mild/late-onset form of Fabry disease. PMID:27081550

  16. The Psychosocial Impact of Fabry Disease on Pediatric Patients.

    PubMed

    Bugescu, Nicolle; Naylor, Paige E; Hudson, Kyr; Aoki, Christa D; Cordova, Matthew J; Packman, Wendy

    2016-09-01

    Fabry disease (FD) is a multisystemic disease that has previously been reported to result in poorer quality of life and psychosocial functioning in impacted adults. However, prior to the current study, limited data were available on the impact of FD in children and adolescents. Therefore, the present study examined the differences of quality of life, psychosocial functioning, and depression in children with FD as compared with a healthy sample. Results indicated that children with FD were experiencing poorer quality of life than their healthy counterparts. Notably, results consistently identified adolescents with FD as more heavily impacted than younger children, although not to the same degree as adults with FD as reported in previous studies. Therefore, adolescence may be a critical point in the development of individuals with FD during which effective multidisciplinary interventions could be utilized to prevent poor quality of life and psychosocial functioning in adulthood. PMID:27617155

  17. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

    PubMed Central

    Germain, Dominique P; Charrow, Joel; Desnick, Robert J; Guffon, Nathalie; Kempf, Judy; Lachmann, Robin H; Lemay, Roberta; Linthorst, Gabor E; Packman, Seymour; Scott, C Ronald; Waldek, Stephen; Warnock, David G; Weinreb, Neal J; Wilcox, William R

    2015-01-01

    Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A therapy. Methods The outcomes (severe clinical events, renal function, cardiac structure) of 52/58 patients with classic Fabry disease from the phase 3 clinical trial and extension study, and the Fabry Registry were evaluated. Disease progression rates for patients with low renal involvement (LRI, n=32) or high renal involvement (HRI, n=20) at baseline were assessed. Results 81% of patients (42/52) did not experience any severe clinical event during the treatment interval and 94% (49/52) were alive at the end of the study period. Ten patients reported a total of 16 events. Patients classified as LRI started therapy 13 years younger than HRI (mean 25 years vs 38 years). Mean slopes for estimated glomerular filtration rate for LRI and HRI were −1.89 mL/min/1.73 m2/year and −6.82 mL/min/1.73 m2/year, respectively. Overall, the mean left ventricular posterior wall thickness and interventricular septum thickness remained unchanged and normal. Patients who initiated treatment at age ≥40 years exhibited significant increase in left ventricular posterior wall thickness and interventricular septum thickness. Mean plasma globotriaosylceramide normalised within 6 months. Conclusions This 10-year study documents the effectiveness of agalsidase beta (1 mg/kg/2 weeks) in patients with Fabry disease. Most patients remained alive and event-free. Patients who initiated treatment at a younger age and with less kidney involvement benefited the most from therapy. Patients who initiated treatment at older ages and/or had advanced renal disease experienced disease progression. PMID:25795794

  18. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction Versus Treatment Switch

    PubMed Central

    Krämer, Johannes; Duning, Thomas; Lenders, Malte; Canaan-Kühl, Sima; Krebs, Alice; González, Hans Guerrero; Sommer, Claudia; Üçeyler, Nurcan; Niemann, Markus; Störk, Stefan; Schelleckes, Michael; Reiermann, Stefanie; Stypmann, Jörg; Brand, Stefan-Martin; Wanner, Christoph; Brand, Eva

    2014-01-01

    Because of the shortage of agalsidase-beta in 2009, many patients with Fabry disease were treated with lower doses or were switched to agalsidase-alfa. This observational study assessed end-organ damage and clinical symptoms during dose reduction or switch to agalsidase-alfa. A total of 105 adult patients with Fabry disease who had received agalsidase-beta (1.0 mg/kg body weight) for ≥1 year were nonrandomly assigned to continue this treatment regimen (regular-dose group, n=38), receive a reduced dose of 0.3–0.5 mg/kg (dose-reduction group, n=29), or switch to 0.2 mg/kg agalsidase-alfa (switch group) and were followed prospectively for 1 year. We assessed clinical events (death, myocardial infarction, severe arrhythmia, stroke, progression to ESRD); changes in cardiac, renal, and neurologic function; and Fabry-related symptoms (neuropathic pain, hypohidrosis, diarrhea, and disease severity scores). Organ function and Fabry-related symptoms remained stable in the regular-dose group. In contrast, estimated GFR decreased by about 3 ml/min per 1.73 m2 (P=0.01) in the dose-reduction group, and the median albumin-to-creatinine ratio increased from 114 (0–606) mg/g to 216 (0–2062) mg/g (P=0.03) in the switch group. Furthermore, mean Mainz Severity Score Index scores and frequencies of pain attacks, chronic pain, gastrointestinal pain, and diarrhea increased significantly in the dose-reduction and switch groups. In conclusion, patients receiving regular agalsidase-beta dose had a stable disease course, but dose reduction led to worsening of renal function and symptoms. Switching to agalsidase-alfa is safe, but microalbuminuria may progress and Fabry-related symptoms may deteriorate. PMID:24556354

  19. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.

    PubMed

    Navarro, Carmen; Teijeira, Susana; Dominguez, Carmen; Fernandez, Jose M; Rivas, Eloy; Fachal, Carmen; Barrera, Soraya; Rodriguez, Carmen; Iranzo, Pilar

    2006-02-01

    Fabry disease is a rare X-linked lysosomal storage disorder due to alpha galactosidase A deficiency, better known after the advent of a promising treatment, a periodical enzyme replacement. As other hereditary X-linked disorders, females have historically been considered non-affected carriers, although they are, actually, clinically and pathologically affected to a variable degree. Some women are asymptomatic, but the majority present milder forms of the disease and later onset. This wide range of disease expression is supposed to be related to the levels of enzymatic activity, probably in accordance with a skewing of X inactivation. Lysosomal deposits of ceramide trihexoside have been repeatedly documented in a wide range of tissues, including those found in angiokeratoma, the characteristic cutaneous lesion which allowed the definition of Fabry disease. The aim of this study was to investigate whether there was any difference in the amount of dermal lysosomal storage in males and females, thus accounting for the difference in clinical severity of both groups. For that purpose, with electron microscopy and quantitative methods, we studied the extent of lysosomal deposits in dermal fibroblasts of normal-appearing skin in six females and nine men, enzymatically and genetically proven as to have Fabry disease, and results were compared. Our results indicate a statistically significant difference between the two groups regarding both the percentage of dermal fibroblasts bearing stored material, and the storage surface occupied in 100 fibroblasts per case. We suggest that periodical ultrastructural examination of normal-appearing skin could be an indicator of the efficacy of enzyme replacement therapy and could help to evaluate results. PMID:16463201

  20. Fabry disease

    PubMed Central

    2010-01-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs

  1. Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

    PubMed

    Gutiérrez-Amavizca, B E; Orozco-Castellanos, R; R Padilla-Gutiérrez, J; Valle, Y; Figuera, L E

    2014-01-01

    Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males. PMID:25177955

  2. Assessment of Renal Pathology and Dysfunction in Pediatric Patients with Fabry Disease

    PubMed Central

    Ramaswami, Uma; Najafian, Behzad; Schieppati, Arrigo; Mauer, Michael; Bichet, Daniel G.

    2016-01-01

    Overt renal disease often first presents in males with Fabry disease in early-to-mid adulthood, but proteinuria and reduced glomerular filtration rate may occur in adolescents and in young children. More recently, kidney biopsy data have shown early renal histological changes in pediatric patients. Renal investigations and their timing in children remain poorly defined. A consensus on renal investigations is necessary to understand the natural progression of the disease and to evaluate the efficacy of treatments such as enzyme replacement therapies. This manuscript addresses three main categories, including the use of glomerular filtration rates, measuring albuminuria and renal biopsies in children. PMID:20056758

  3. Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

    PubMed Central

    Oder, Daniel; Üçeyler, Nurcan; Liu, Dan; Hu, Kai; Petritsch, Bernhard; Sommer, Claudia; Ertl, Georg; Wanner, Christoph; Nordbeck, Peter

    2016-01-01

    Objectives The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. Setting and participants In this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at baseline and during a 4-year follow-up if available. Five females and one male were included. Primary and secondary outcome measures Cardiac, nephrological, neurological, laboratory and quality of life data. Results AgalA enzyme activity in leucocytes (0.3±0.9 nmol/min/mg protein (mean±SD)) and serum lyso-Gb3 (0.6±0.3 ng/mL at baseline) were in normal range in all patients. Cardiac morphology and function were normal (left-ventricular (LV) ejection fraction 66±8%; interventricular septum 7.7±1.4 mm; LV posterior wall 7.5±1.4 mm; normalised LV mass in MRI 52±9 g/m2; LV global longitudinal strain −21.6±1.9%) and there were no signs of myocardial fibrosis in cardiac MRI. Cardiospecific biomarkers were also in normal range. Renal function was not impaired (estimated glomerular filtration rate MDRD 103±15 mL/min; serum-creatinine 0.75±0.07 mg/dL; cystatin-c 0.71±0.12 mg/L). One female patient (also carrying a Factor V Leiden mutation) had a transitory ischaemic attack. One patient showed white matter lesions in brain MRI, but none had Fabry-associated pain attacks, pain crises, evoked pain or permanent pain. Health-related quality of life analysis revealed a reduction in individual well-being. At long-term follow-up after 4 years, no significant change was seen in any parameter. Conclusions The results of the current study suggest that the D313Y genotype does not lead to severe organ manifestations as seen in genotypes known to be causal for classical FD. PMID:27059467

  4. Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

    PubMed Central

    Kim, Jeong-Yup; Hyun, Young-Youl; Lee, Ji-Eun; Yoon, Hye-Ran; Kim, Gu-Hwan; Yoo, Han-Wook; Cho, Seong-Tae; Chun, No-Won; Jeoung, Byoung-Chunn; Kim, Hwa-Jung; Kim, Keong-Wook; Kim, Seong-Nam; Kim, Yung-A; Lee, Hyun-Ah; Lee, Jong-Young; Lee, Yung-Chun; Lim, Hun-Kwan; Oh, Keong-Sik; Son, Seong-Hwan; Yu, Beong-Hee; Wee, Kyeong-So; Lee, Eun-Jong; Lee, Young-Ki; Noh, Jung-Woo; Kim, Seung-Jung; Choi, Kyu-Bok; Yu, Suk-Hee; Pyo, Heui-Jung

    2010-01-01

    Background/Aims Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. Methods A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy. Results Twenty-nine patients had elevated serum GL3 levels. The α-GaL A activity was determined for the 26 patients with high GL3 levels. The mean α-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased α-GaL A activity. Among the group with high GL3 levels, 15 women had a α-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and α-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease. Conclusions Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease. PMID:21179280

  5. Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy.

    PubMed

    Weidemann, Frank; Maier, Sebastian K G; Störk, Stefan; Brunner, Thomas; Liu, Dan; Hu, Kai; Seydelmann, Nora; Schneider, Andreas; Becher, Jan; Canan-Kühl, Sima; Blaschke, Daniela; Bijnens, Bart; Ertl, Georg; Wanner, Christoph; Nordbeck, Peter

    2016-07-15

    Patients with genetic cardiomyopathy that involves myocardial hypertrophy often develop clinically relevant arrhythmias that increase the risk of sudden death. Consequently, guidelines for medical device therapy were established for hypertrophic cardiomyopathy, but not for conditions with only anecdotal evidence of arrhythmias, like Fabry cardiomyopathy. Patients with Fabry cardiomyopathy progressively develop myocardial fibrosis, and sudden cardiac death occurs regularly. Because 24-hour Holter electrocardiograms (ECGs) might not detect clinically important arrhythmias, we tested an implanted loop recorder for continuous heart rhythm surveillance and determined its impact on therapy. This prospective study included 16 patients (12 men) with advanced Fabry cardiomyopathy, relevant hypertrophy, and replacement fibrosis in "loco typico." No patients previously exhibited clinically relevant arrhythmias on Holter ECGs. Patients received an implantable loop recorder and were prospectively followed with telemedicine for a median of 1.2 years (range 0.3 to 2.0 years). The primary end point was a clinically meaningful event, which required a therapy change, captured with the loop recorder. Patients submitted data regularly (14 ± 11 times per month). During follow-up, 21 events were detected (including 4 asystole, i.e., ECG pauses ≥3 seconds) and 7 bradycardia events; 5 episodes of intermittent atrial fibrillation (>3 minutes) and 5 episodes of ventricular tachycardia (3 sustained and 2 nonsustained). Subsequently, as defined in the primary end point, 15 events leaded to a change of therapy. These patients required therapy with a pacemaker or cardioverter-defibrillator implantation and/or anticoagulation therapy for atrial fibrillation. In conclusion, clinically relevant arrhythmias that require further device and/or medical therapy are often missed with Holter ECGs in patients with advanced stage Fabry cardiomyopathy, but they can be detected by telemonitoring with

  6. Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy

    PubMed Central

    Gaggl, Martina; Lajic, Natalija; Heinze, Georg; Voigtländer, Till; Sunder-Plassmann, Raute; Paschke, Eduard; Fauler, Günter; Sunder-Plassmann, Gere; Mundigler, Gerald

    2016-01-01

    Background: Left ventricular hypertrophy (LVH) is a frequent echocardiographic feature in Fabry disease (FD) and in severe cases may be confused with hypertrophic cardiomyopathy (HCM) of other origin. The prevalence of FD in patients primarily diagnosed with HCM varies considerably in screening and case finding studies, respectively. In a significant proportion of patients, presenting with only mild or moderate LVH and unspecific clinical signs FD may remain undiagnosed. Urinary Gb3 isoforms have been shown to detect FD in both, women and men. We examined whether this non-invasive method would help to identify new FD cases in a non-selected cohort of patients with various degree of LVH. Methods and results: Consecutive patients older than 18 years with a diastolic interventricular septal wall thickness of ≥12mm determined by echocardiography were included. Referral diagnosis was documented and spot urine was collected. Gb3 was measured by mass spectroscopy. Subjects with an elevated Gb3-24:18 ratio were clinically examined for signs of FD, α-galactosidase-A activity in leukocytes was determined and GLA-mutation-analysis was performed. We examined 2596 patients. In 99 subjects urinary Gb3 isoforms excretion were elevated. In these patients no new cases of FD were identified by extended FD assessment. In two of three patients formerly diagnosed with FD Gb3-24:18 ratio was elevated and would have led to further diagnostic evaluation. Conclusion: Measurement of urinary Gb3 isoforms in a non-selected cohort with LVH was unable to identify new cases of FD. False positive results may be prevented by more restricted inclusion criteria and may improve diagnostic accuracy of this method. PMID:27226774

  7. Increased Arterial Diameters in the Posterior Cerebral Circulation in Men with Fabry Disease

    PubMed Central

    Üçeyler, Nurcan; Homola, György A.; Guerrero González, Hans; Kramer, Daniela; Wanner, Christoph; Weidemann, Frank; Solymosi, László; Sommer, Claudia

    2014-01-01

    A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk. We studied a large cohort of patients with Fabry disease to differentially investigate white matter lesion load and cerebral artery diameters. We retrospectively analyzed cranial magnetic resonance imaging scans of 87 consecutive Fabry patients, 20 patients with ischemic stroke, and 36 controls. We determined the white matter lesion load applying the Fazekas score on fluid-attenuated inversion recovery sequences and measured the diameters of cerebral arteries on 3D-reconstructions of the time-of-flight-MR-angiography scans. Data of different Fabry patient subgroups (males – females; normal – impaired renal function) were compared with data of patients with stroke and controls. A history of stroke or transient ischemic attacks was present in 4/30 males (13%) and 5/57 (9%) females with Fabry disease, all in the anterior circulation. Only one man with Fabry disease showed confluent cerebral white matter lesions in the Fazekas score assessment (1%). Male Fabry patients had a larger basilar artery (p<0.01) and posterior cerebral artery diameter (p<0.05) compared to male controls. This was independent of disease severity as measured by renal function and did not lead to changes in arterial blood flow properties. A basilar artery diameter of >3.2 mm distinguished between men with Fabry disease and controls (sensitivity: 87%, specificity: 86%, p<0.001), but not from stroke patients. Enlarged arterial diameters of the posterior circulation are present only in men with Fabry disease independent of disease severity. PMID:24475221

  8. Ocular signs correlate well with disease severity and genotype in Fabry disease.

    PubMed

    Pitz, Susanne; Kalkum, Gisela; Arash, Laila; Karabul, Nesrin; Sodi, Andrea; Larroque, Sylvain; Beck, Michael; Gal, Andreas

    2015-01-01

    Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone ophthalmological examination. Three ocular signs were assessed: cornea verticillata, tortuous conjunctival and/or retinal vessels, and cataract. Fabry disease severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult patients with eye findings characteristic of Fabry disease in 55.1%. Cornea verticillata had a similar distribution in women (51.1%) and men (50.8%), whereas tortuous vessels and Fabry cataract were somewhat more frequent in men than in women. Patients with cornea verticillata, selected as the principal ocular sign for this study, had more severe disease (median score, 20.0) versus those without ocular signs (11.0; P<0.001). This finding could be confirmed by applying age adjusted severity scores. Moreover, the prevalence of cornea verticillata was significantly higher in patients with null (male, 76.9%; female, 64.5%) and missense (male, 79.2%; female, 67.4%) mutations versus mild missense (male, 17.1%; female, 23.1%) and the p.N215S (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in Fabry disease and disease severity. Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the risk for more severe Fabry disease. These observed findings are of notable clinical importance, as Fabry disease is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual patient level. Further confirmatory studies

  9. Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

    PubMed Central

    Pitz, Susanne; Kalkum, Gisela; Arash, Laila; Karabul, Nesrin; Sodi, Andrea; Larroque, Sylvain; Beck, Michael; Gal, Andreas

    2015-01-01

    Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone ophthalmological examination. Three ocular signs were assessed: cornea verticillata, tortuous conjunctival and/or retinal vessels, and cataract. Fabry disease severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult patients with eye findings characteristic of Fabry disease in 55.1%. Cornea verticillata had a similar distribution in women (51.1%) and men (50.8%), whereas tortuous vessels and Fabry cataract were somewhat more frequent in men than in women. Patients with cornea verticillata, selected as the principal ocular sign for this study, had more severe disease (median score, 20.0) versus those without ocular signs (11.0; P<0.001). This finding could be confirmed by applying age adjusted severity scores. Moreover, the prevalence of cornea verticillata was significantly higher in patients with null (male, 76.9%; female, 64.5%) and missense (male, 79.2%; female, 67.4%) mutations versus mild missense (male, 17.1%; female, 23.1%) and the p.N215S (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in Fabry disease and disease severity. Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the risk for more severe Fabry disease. These observed findings are of notable clinical importance, as Fabry disease is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual patient level. Further confirmatory studies

  10. AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation

    PubMed Central

    Lu, Yung-Hsiu; Li, Cheng-Fang; Huang, Chun-Kai; Lin, Yu-Ting; Hsu, Ting-Rong; Niu, Dau-Ming

    2015-01-01

    Background In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac fabry mutation (IVS4 + 919G >A). The common cardiac variant fabry mutation, IVS4+919G >A, affects the splicing of GLA RNA by introducing a 57-nucleotide insertion between exons 4 and 5 that contains a stop codon and leads to a truncated protein and inactive enzyme. And this mutation affected males have up to 10% residual enzyme activity and present clinically with late-onset hypertrophic cardiomyopathy. Due to the high cost of enzyme replacement therapy and the large number of patients with this mutation, the development of alternative therapies is essential. Several low-molecular-mass compounds, such as histone deacetylase inhibitors or kinase/phosphatase inhibitors, have been identified as modulators of alternative splicing. It may offer a potential alternative to enzyme replacement therapy. We expect to find out a more economic and effective drug by the detailed study of the mechanism of the small molecule modulators on the IVS4+919G >A mutation for the greater benefits of patients with this mutation. Methods In this study, we used to generate Epstein-Barr virus-transformed lymphoblast cell lines and incubated with different concentrations of three HDIs (sodium butyrate, valproic acid, and trichostatin A) and Amiloride hydrochloride (Amiloride HCl). To identify the respond of these compound, we were monitored the relative amounts of normal and aberrant splice forms by quantitative real-time polymerase chain reaction, the relative amounts of the normal and truncated α-Gal A protein products were analyzed by Western blotting and enzyme activities. Results Western blotting revealed those females heterozygous for the IVS4+919G >A mutation had approximately 50% of the normal level of α-Gal A protein, whereas hemizygous males had approximately 10% of the normal level. The three HDIs were all found to rescue the aberrant RNA

  11. Genetic screening of Fabry patients with EcoTILLING and HRM technology

    PubMed Central

    2011-01-01

    Background Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to the accumulation of complex sphingolipids, especially globotriaosylceramide (Gb3), in all the cells of the body, causing the onset of a multi-systemic disease with poor prognosis in adulthood. In this article, we describe two alternative methods for screening the GLA gene which codes for the α-galactosidase A enzyme in subjects with probable FD in order to test analysis strategies which include or rely on initial pre-screening. Findings We analyzed 740 samples using EcoTILLING, comparing two mismatch-specificendonucleases, CEL I and ENDO-1, while conducting a parallel screening of the same samples using HRM (High Resolution Melting). Afterwards, all samples were subjected to direct sequencing. Overall, we identified 12 different genetic variations: -10C>T, -12G>A, -30G>A, IVS2-76_80del5, D165H, C172Y, IVS4+16A>G, IVS4 +68 A>G, c.718_719delAA, D313Y, IVS6-22C>T, G395A. This was consistent with the high genetic heterogeneity found in FD patients and carriers. All of the mutations were detected by HRM, whereas 17% of the mutations were not found by EcoTILLING. The results obtained by EcoTILLING comparing the CEL I and ENDO-1 endonucleases were perfectly overlapping. Conclusion On the basis of its simplicity, flexibility, repeatability, and sensitivity, we believe thatHRM analysis of the GLA gene is a reliable presequencing screening tool. This method can be applied to any genomic feature to identify known and unknown genetic alterations, and it is ideal for conducting screening and population studies. PMID:21896204

  12. Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

    PubMed

    Sagnelli, A; Savoiardo, M; Marchesi, C; Morandi, L; Mora, M; Morbin, M; Farina, L; Mazzeo, A; Toscano, A; Pagliarani, S; Lucchiari, S; Comi, G P; Salsano, E; Pareyson, D

    2014-03-01

    Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis of Fabry's disease after a hemizygous mutation (p.Ala143Thr) in α-galactosidase A gene was detected. Subsequently, he developed progressive walking difficulties and dementia, which were considered atypical for Fabry's disease. Therefore, we performed additional investigations that eventually led to the diagnosis of adult polyglucosan body disease caused by two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene. Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned. This case underlines the importance of performing further investigations when facing with atypical features even in the presence of a genetic diagnosis of a rare disease. PMID:24380807

  13. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.

    PubMed

    Lenders, Malte; Canaan-Kühl, Sima; Krämer, Johannes; Duning, Thomas; Reiermann, Stefanie; Sommer, Claudia; Stypmann, Jörg; Blaschke, Daniela; Üçeyler, Nurcan; Hense, Hans-Werner; Brand, Stefan-Martin; Wanner, Christoph; Weidemann, Frank; Brand, Eva

    2016-03-01

    Because of the shortage of agalsidase-β supply between 2009 and 2012, patients with Fabry disease either were treated with reduced doses or were switched to agalsidase-α. In this observational study, we assessed end organ damage and clinical symptoms with special focus on renal outcome after 2 years of dose-reduction and/or switch to agalsidase-α. A total of 89 adult patients with Fabry disease who had received agalsidase-β (1.0 mg/kg body wt) for >1 year were nonrandomly assigned to continue this treatment regimen (regular-dose group, n=24), to receive a reduced dose of 0.3-0.5 mg/kg and a subsequent switch to 0.2 mg/kg agalsidase-α (dose-reduction-switch group, n=28), or to directly switch to 0.2 mg/kg agalsidase-α (switch group, n=37) and were followed-up for 2 years. We assessed clinical events (death, myocardial infarction, severe arrhythmia, stroke, progression to ESRD), changes in cardiac and renal function, Fabry-related symptoms (pain, hypohidrosis, diarrhea), and disease severity scores. Determination of renal function by creatinine and cystatin C-based eGFR revealed decreasing eGFRs in the dose-reduction-switch group and the switch group. The Mainz Severity Score Index increased significantly in these two groups (P=0.02 and P<0.001, respectively), and higher frequencies of gastrointestinal pain occurred during follow-up. In conclusion, after 2 years of observation, all groups showed a stable clinical disease course with respect to serious clinical events. However, patients under agalsidase-β dose-reduction and switch or a direct switch to agalsidase-α showed a decline of renal function independent of the eGFR formula used. PMID:26185201

  14. Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.

    PubMed

    Oder, Daniel; Nordbeck, Peter; Wanner, Christoph

    2016-01-01

    Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies. Early ERT treatment at young age, a personalized approach, and adjunctive therapies for specific disease manifestations appear to impact on prognosis and are currently favored with the expectance of more effective intravenous and oral treatments in the short future. PMID:27576727

  15. Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case–control study

    PubMed Central

    Sahuc, Pauline; Chiche, Laurent; Dussol, Bertrand; Pouget, Jean; Franques, Jérôme

    2016-01-01

    Hypohidrosis is a frequent and early symptom in patients with Fabry disease. Studies have reported improved sweating in patients treated with enzyme-replacement therapy. A new method, Sudoscan, has been developed that is noninvasive, is quantitative, and can quickly evaluate sweat gland function. It is based on the electrochemical reaction between sweat chlorides and stainless-steel electrodes in contact with the palms and soles. The aim of our study was to evaluate the Sudoscan as a tool to assess sudomotor dysfunction in patients with Fabry disease. Consecutive patients were prospectively recruited who had a diagnosis of Fabry disease, which had been confirmed genetically and/or by measurement of α-galactosidase activity in leukocytes. Healthy controls, matched (1:1) for age and sex, were also enrolled. Test results were expressed immediately as electrochemical skin conductance (ESC, µS) for hands and feet. Sudomotor dysfunction was considered absent, moderate, or severe if the ESC measured on the feet was >60 µS, between 60 and 40 µS, or <40 µS, respectively. Among the 18 patients, 11 had hypohidrosis or anhidrosis. Hand and feet ESCs were significantly lower in patients compared to their controls (P=0.0015 and P=0.0047, respectively). Among patients, 8/18 (44.5%) had a sudomotor dysfunction, moderate in three and severe in five cases. Hand and feet ESCs were significantly lower in those with hypohidrosis/anhidrosis compared to those without (P=0.0014 and P=0.0056, respectively). This study showed that Sudoscan provided a quick, noninvasive, and quantitative measurement of sudomotor function in Fabry disease patients. PMID:26893567

  16. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

    PubMed Central

    Ferreira, Susana; Ortiz, Alberto; Germain, Dominique P.; Viana-Baptista, Miguel; Gomes, António Caldeira; Camprecios, Marta; Fenollar-Cortés, Maria; Gallegos-Villalobos, Ángel; Garcia, Diego; García-Robles, José Antonio; Egido, Jesús; Gutiérrez-Rivas, Eduardo; Herrero, José Antonio; Mas, Sebastián; Oancea, Raluca; Péres, Paloma; Salazar-Martín, Luis Manuel; Solera-Garcia, Jesús; Alves, Helena; Garman, Scott C.; Oliveira, João Paulo

    2015-01-01

    Summary Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue – GLA p.(Arg118Cys) –, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands’ close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease, since the allelic frequency in stroke patients was 0.0087 (p=0.0185 vs the general population). The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for “rare” condition. PMID:25468652

  17. Psychological Counseling of Female Fertility Preservation Patients.

    PubMed

    Lawson, Angela K; Klock, Susan C; Pavone, Mary Ellen; Hirshfeld-Cytron, Jennifer; Smith, Kristin N; Kazer, Ralph R

    2015-01-01

    Young cancer patients are increasingly interested in preserving their fertility prior to undergoing gonadotoxic therapies. Although the medical safety and treatment protocols for fertility preservation have been well documented, limited research has addressed the emotional issues that arise in fertility preservation patients. We briefly review the literature on the psychosocial issues in adult female fertility preservation treatment and describe our experiences within this patient population. Our findings suggest that several important issues to be addressed during the psychological counseling of adult female fertility preservation patients include: (1) preexisting psychological distress in patients undergoing treatment, (2) choice of fertility preservation strategy in the face of an uncertain relationship future, (3) decision making regarding use of third-party reproduction (e.g., sperm/egg donation, gestational surrogacy), (4) treatment expectations regarding pregnancy and miscarriage, (5) ethical issues related to treatment including the creation, cryopreservation, and disposition of embryos/oocytes, and (6) decision regret from patients who declined fertility preservation. PMID:25996581

  18. Electrocardiographic Changes and Arrhythmia in Fabry Disease

    PubMed Central

    Namdar, Mehdi

    2016-01-01

    Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme α-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth prevalence of 1:40,000–170,000; however, such data do not allow an estimation on an actual patient number suffering from Fabry disease (2). Multisystem morbidity commonly develops in childhood and, with progression of the disease, life-threatening complications often occur in adulthood, including renal failure, cardiovascular dysfunction, neuropathy, and stroke (3–6). Life expectancy is reduced by an average of 15 years in female patients and 20 years in male patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed over the past decades by many groups in vascular endothelial and smooth muscle cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3). Although incompletely described, it is likely that inflammatory and neurohormonal mechanisms are involved in subsequent cellular and vascular dysfunction, leading to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently published works on cardiomyocyte dysfunction and conduction tissue involvement have suggested that cardiac dysfunction may reflect increased myocardial nitric oxide production with oxidative damage of cardiomyocyte myofilaments and DNA, causing cell dysfunction and death, and accelerated conduction with prolonged refractoriness and electric instability (10, 11). PMID:27047943

  19. Electrocardiographic Changes and Arrhythmia in Fabry Disease.

    PubMed

    Namdar, Mehdi

    2016-01-01

    Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme α-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth prevalence of 1:40,000-170,000; however, such data do not allow an estimation on an actual patient number suffering from Fabry disease (2). Multisystem morbidity commonly develops in childhood and, with progression of the disease, life-threatening complications often occur in adulthood, including renal failure, cardiovascular dysfunction, neuropathy, and stroke (3-6). Life expectancy is reduced by an average of 15 years in female patients and 20 years in male patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed over the past decades by many groups in vascular endothelial and smooth muscle cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3). Although incompletely described, it is likely that inflammatory and neurohormonal mechanisms are involved in subsequent cellular and vascular dysfunction, leading to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently published works on cardiomyocyte dysfunction and conduction tissue involvement have suggested that cardiac dysfunction may reflect increased myocardial nitric oxide production with oxidative damage of cardiomyocyte myofilaments and DNA, causing cell dysfunction and death, and accelerated conduction with prolonged refractoriness and electric instability (10, 11). PMID:27047943

  20. Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease

    PubMed Central

    Sakuraba, Hitoshi; Tsukimura, Takahiro; Tanaka, Toshie; Togawa, Tadayasu; Takahashi, Naoki; Mikami, Daisuke; Wakai, Sachiko; Akai, Yasuhiro

    2015-01-01

    Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis. However, there are possible acquired lysosomal diseases associated with pharmacological toxicity, although less attention has been paid to them. Case Presentation: We experienced 3 male patients presenting with proteinuria and specific pathological changes strongly suggesting Fabry disease. We sought detailed clinical and biochemical information to avoid a wrong diagnosis. The patients were examined clinically and pathologically, and plasma α-galactosidase A (GLA) activity and the globotriaosylsphingosine (lyso-Gb3) concentrations were measured. Electron microscopic examination revealed numerous membranous inclusion bodies in podocytes, and biochemical analysis revealed normal GLA activity and a normal lyso-Gb3 level in plasma, showing that they did not have Fabry disease. They suffered from hyperlipidemia, myeloma, or lupus nephritis. They had received pitavastatin calcium, clarithromycin, loxoprofen and/or prednisolone, and there was no medication history of cationic amphiphilic drugs. Conclusions: In this case series, the etiology of the inclusions was not clarified. However, these cases indicate that careful attention should be paid on diagnosis of patients exhibiting inclusion bodies in kidney cells, and it is important to confirm their past and present illnesses, and medication history as well as to measure the GLA activity and lyso-Gb3 level. PMID:26312237

  1. Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

    PubMed Central

    Ishii, Satoshi; Chang, Hui-Hwa; Kawasaki, Kunito; Yasuda, Kayo; Wu, Hui-Li; Garman, Scott C.; Fan, Jian-Qiang

    2007-01-01

    Fabry disease is a lysosomal storage disorder caused by the deficiency of α-Gal A (α-galactosidase A) activity. In order to understand the molecular mechanism underlying α-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purified from transfected COS-7 cells and the biochemical properties were characterized. The mutant enzymes detected in variant patients (A20P, E66Q, M72V, I91T, R112H, F113L, N215S, Q279E, M296I, M296V and R301Q), and those found mostly in mild classic patients (A97V, A156V, L166V and R356W) appeared to have normal Km and Vmax values. The degradation of all mutants (except E59K) was partially inhibited by treatment with kifunensine, a selective inhibitor of ER (endoplasmic reticulum) α-mannosidase I. Metabolic labelling and subcellular fractionation studies in COS-7 cells expressing the L166V and R301Q α-Gal A mutants indicated that the mutant protein was retained in the ER and degraded without processing. Addition of DGJ (1-deoxygalactonojirimycin) to the culture medium of COS-7 cells transfected with a large set of missense mutant α-Gal A cDNAs effectively increased both enzyme activity and protein yield. DGJ was capable of normalizing intracellular processing of mutant α-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. In addition, the residual enzyme activity in fibroblasts or lymphoblasts from both classic and variant hemizygous Fabry disease patients carrying a variety of missense mutations could be substantially increased by cultivation of the cells with DGJ. These results indicate that a large proportion of mutant enzymes in patients with residual enzyme activity are kinetically active. Excessive degradation in the ER could be responsible for the deficiency of enzyme activity in vivo, and the DGJ approach may be broadly applicable to Fabry disease patients with missense mutations. PMID:17555407

  2. Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

    PubMed Central

    Biko, Lydia; Hose, Dorothea; Hofmann, Lukas; Sommer, Claudia

    2016-01-01

    Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease. We systematically assessed sensory system, physical activity, metabolic parameters, and morphology of male and female mice with alpha-galactosidase A deficiency (Fabry ko) from 2 to 27 months of age and compared results with those of age- and gender-matched wild-type littermates of C57Bl/6J background. Results From the age of two months, male and female Fabry mice showed mechanical hypersensitivity (p < 0.001 each) compared to wild-type littermates. Young Fabry ko mice of both genders were hypersensitive to heat stimulation (p < 0.01) and developed heat hyposensitivity with aging (p < 0.05), while cold hyposensitivity was present constantly in young (p < 0.01) and old (p < 0.05) Fabry ko mice compared to wild-type littermates. Stride angle increased only in male Fabry ko mice with aging (p < 0.01) in comparison to wild-type littermates. Except for young female mice, male (p < 0.05) and female (p < 0.01) Fabry ko mice had a higher body weight than wild-type littermates. Old male Fabry ko mice were physically less active than their wild-type littermates (p < 0.05), had lower chow intake (p < 0.001), and lost more weight (p < 0.001) in a one-week treadmill experiment than wild-type littermates. Also, Fabry ko mice showed spontaneous pain protective behavior and developed orofacial dysmorphism resembling patients with Fabry disease. Conclusions Mice with alpha-galactosidase A deficiency show age-dependent and distinct deficits of the sensory system. alpha-galactosidase A-deficient mice seem to model human Fabry disease and may be helpful when studying the pathophysiology of Fabry-associated pain. PMID:27145802

  3. Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

    PubMed Central

    Keslová-Veselíková, Jana; Hůlková, Helena; Dobrovolný, Robert; Asfaw, Befekadu; Poupětová, Helena; Berná, Linda; Sikora, Jakub; Goláň, Lubor

    2008-01-01

    The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male patients to show diversity of affected cells in response to treatment. In the mutant fibroblasts cultures, the final cellular level of endocytosed recombinant α-galactosidases A (agalsidases, FabrazymeTM, and ReplagalTM) exceeded, by several fold, the amount in control fibroblasts and led to efficient direct intra-lysosomal hydrolysis of (3H)Gb3Cer. In contrast, in the samples from the heart and some other tissues biopsied after several months of enzyme replacement therapy (ERT) with FabrazymeTM, only the endothelial cells were free of storage. Persistent Gb3Cer storage was found in cardiocytes (accompanied by increase of lipopigment), smooth muscle cells, fibroblasts, sweat glands, and skeletal muscle. Immunohistochemistry of cardiocytes demonstrated, for the first time, the presence of a considerable amount of the active enzyme in intimate contact with the storage compartment. Factors responsible for the limited ERT effectiveness are discussed, namely post-mitotic status of storage cells preventing their replacement by enzyme supplied precursors, modification of the lysosomal system by longstanding storage, and possible relative lack of Sap B. These observations support the strategy of early treatment for prevention of lysosomal storage. PMID:18351385

  4. Malignant syphilis in an immunocompetent female patient.

    PubMed

    Requena, Camila Bueno; Orasmo, Cínthia Rosane; Ocanha, Juliana Polizel; Barraviera, Silvia Regina Catharino Sartore; Marques, Mariangela Esther Alencar; Marques, Silvio Alencar

    2014-01-01

    Malignant syphilis is an uncommon manifestation of secondary syphilis, in which necrotic lesions may be associated with systemic signs and symptoms. Generally it occurs in an immunosuppressed patient, mainly HIV-infected, but might be observed on those who have normal immune response. Since there is an exponential increase in the number of syphilis cases, more diagnoses of malignant syphilis must be expected. We report a case in an immunocompetent female patient. PMID:25387504

  5. Psychological Counseling of Female Fertility Preservation Patients

    PubMed Central

    Lawson, Angela K.; Klock, Susan C.; Pavone, Mary Ellen; Hirshfeld-Cytron, Jennifer; Smith, Kristin N.; Kazer, Ralph R.

    2015-01-01

    Young cancer patients are increasingly interested in preserving their fertility prior to undergoing gonadotoxic therapies. Although the medical safety and treatment protocols for fertility preservation have been well documented, limited research has addressed the emotional issues which arise in fertility preservation patients. We briefly review the literature on the psychosocial issues in adult female fertility preservation treatment and describe our experiences within this patient population patient. Our findings suggest that several important issues to be addressed during the psychological counseling of adult female fertility preservation patients include: 1) pre-existing psychological distress in patients undergoing treatment, 2) choice of fertility preservation strategy in the face of an uncertain relationship future, 3) decision making regarding use of third party reproduction (e.g., sperm/egg donation, gestational surrogacy), 4) treatment expectations regarding pregnancy and miscarriage, 5) ethical issues related to treatment including the creation, cryopreservation, and disposition of embryos/oocytes, and 6) decision regret from patients who declined fertility preservation. PMID:25996581

  6. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

    PubMed Central

    Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Sokolovkiy, Alexey; Smith, Kelly; Mauer, Michael

    2016-01-01

    Fabry nephropathy is associated with progressive accumulation of globotriaosylceramide (GL3) in podocytes. Reducing this GL3 burden may reduce podocyte injury. Sensitive methods to quantify podocyte GL3 content may determine whether a given strategy can benefit podocytes in Fabry disease. We developed an unbiased electron microscopic stereological method to estimate the average volume of podocytes and their GL3 inclusions in 6 paired pre- and post-enzyme replacement therapy (ERT) biopsies from 5 men with Fabry disease. Podocyte GL3 content was regularly reduced (average 73%) after 11–12 months of ERT. This was not detectable using a semi-quantitative approach. Parallel to GL3 reduction, podocytes became remarkably smaller (average 63%). These reductions in podocyte GL3 content or size were not significantly correlated with changes in foot process width (FPW). However, FPW after ERT was significantly correlated with the magnitude of the decrease in podocyte GL3 content from baseline to 11–12 months of ERT. Also podocytes exocytosed GL3 inclusions, a phenomenon correlated with their reduction in their GL3 content. Demonstrable after11–12 months, reduction in podocyte GL3 content allows for early assessment of treatment efficacy and shorter clinical trials in Fabry disease. PMID:27081853

  7. Cystosarcoma phylloides in adolescent female patients.

    PubMed

    Briggs, R M; Walters, M; Rosenthal, D

    1983-12-01

    Nine cases of cystosarcoma phylloides in adolescent female patients are reported along with an additional 35 cases collected from the literature. Analysis of these 44 cases revealed 37 (84.1 percent) benign lesions, 6 (13.6 percent) malignant tumors, and 1 borderline lesion. Excision was the most common operative procedure and was performed in 35 patients. Nine patients underwent mastectomy. There were three recurrent lesions (one benign and two malignant) for a recurrence rate of 6.8 percent. Wide excision was successful in the treatment of recurrent lesions. On the basis of these data, excision is the preferred initial therapy of cystosarcoma phylloides in the adolescent patient regardless of the histologic classification of the lesion. Malignant cystosarcoma is more likely to recur than a benign lesion but a recurrence can be managed with reexcision. Sacrifice of the adolescent breast at the initial procedure is strongly discouraged. PMID:6316797

  8. Fertility preservation in female cancer patients.

    PubMed

    Kim, Chung-Hoon; Jeon, Gyun-Ho

    2012-01-01

    With improved survival rates among cancer patients, fertility preservation is now being recognized as an issue of great importance. There are currently several methods of fertility preservation available in female cancer patients and the options and techniques via assisted reproduction and cryopreservation are increasing, but some are still experimental and continues to be evaluated. The established means of preserving fertility include embryo cryopreservation, gonadal shielding during radiation therapy, ovarian transposition, conservative gynecologic surgery such as radical trachelectomy, donor embryos/oocytes, gestational surrogacy, and adoption. The experimental methods include oocyte cryopreservation, ovarian cryopreservation and transplantation, in vitro maturation, and ovarian suppression. With advances in methods for the preservation of fertility, providing information about risk of infertility and possible options of fertility preservation to all young patients with cancer, and discussing future fertility with them should be also considered as one of the important parts of consultation at the time of cancer diagnosis. PMID:22462006

  9. Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

    PubMed Central

    Warnock, David G.; Bichet, Daniel G.; Holida, Myrl; Goker-Alpan, Ozlem; Nicholls, Kathy; Thomas, Mark; Eyskens, Francois; Shankar, Suma; Adera, Mathews; Sitaraman, Sheela; Khanna, Richie; Flanagan, John J.; Wustman, Brandon A.; Barth, Jay; Barlow, Carrolee; Valenzano, Kenneth J.; Lockhart, David J.; Boudes, Pol; Johnson, Franklin K.

    2015-01-01

    Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved, biologics-based therapy for Fabry disease is enzyme replacement therapy (ERT) with either agalsidase alfa (Replagal) or agalsidase beta (Fabrazyme). Based on preclinical data, migalastat HCl in combination with agalsidase is expected to result in the pharmacokinetic (PK) enhancement of agalsidase in plasma by increasing the systemic exposure of active agalsidase, thereby leading to increased cellular levels in disease-relevant tissues. This Phase 2a study design consisted of an open-label, fixed-treatment sequence that evaluated the effects of single oral doses of 150 mg or 450 mg migalastat HCl on the PK and tissue levels of intravenously infused agalsidase (0.2, 0.5, or 1.0 mg/kg) in male Fabry patients. As expected, intravenous administration of agalsidase alone resulted in increased α-Gal A activity in plasma, skin, and peripheral blood mononuclear cells (PBMCs) compared to baseline. Following co-administration of migalastat HCl and agalsidase, α-Gal A activity in plasma was further significantly increased 1.2- to 5.1-fold compared to agalsidase administration alone, in 22 of 23 patients (95.6%). Importantly, similar increases in skin and PBMC α-Gal A activity were seen following co-administration of migalastat HCl and agalsidase. The effects were not related to the administered migalastat HCl dose, as the 150 mg dose of migalastat HCl increased α-Gal A activity to the same extent as the 450 mg dose. Conversely, agalsidase had no effect on the plasma PK of migalastat. No migalastat HCl-related adverse events or drug-related tolerability issues were identified. Trial Registration ClinicalTrials.gov NCT01196871 PMID:26252393

  10. Fabry's Disease: Case Series and Review of Literature

    PubMed Central

    Wani, Muzaffar Maqsood; Khan, Imran; Bhat, Riyaz Ahmad; Ahmad, Muzaffar

    2016-01-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10–15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here. PMID:27398254

  11. Fertility preservation in female classic galactosemia patients.

    PubMed

    van Erven, Britt; Gubbels, Cynthia S; van Golde, Ron J; Dunselman, Gerard A; Derhaag, Josien G; de Wert, Guido; Geraedts, Joep P; Bosch, Annet M; Treacy, Eileen P; Welt, Corrine K; Berry, Gerard T; Rubio-Gozalbo, M Estela

    2013-01-01

    Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of classic galactosemia with a severely reduced follicle pool at an early age requires an adjusted approach. In this article recommendations for physicians based on current knowledge concerning galactosemia and fertility preservation are made. Fertility preservation is only likely to be successful in very young prepubertal patients. In this group, cryopreservation of ovarian tissue is currently the only available technique. However, this technique is not ready for clinical application, it is considered experimental and reduces the ovarian reserve. Fertility preservation at an early age also raises ethical questions that should be taken into account. In addition, spontaneous conception despite POI is well described in classic galactosemia. The uncertainty surrounding fertility preservation and the significant chance of spontaneous pregnancy warrant counseling towards conservative application of these techniques. We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age. PMID:23866841

  12. Fertility preservation in female classic galactosemia patients

    PubMed Central

    2013-01-01

    Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of classic galactosemia with a severely reduced follicle pool at an early age requires an adjusted approach. In this article recommendations for physicians based on current knowledge concerning galactosemia and fertility preservation are made. Fertility preservation is only likely to be successful in very young prepubertal patients. In this group, cryopreservation of ovarian tissue is currently the only available technique. However, this technique is not ready for clinical application, it is considered experimental and reduces the ovarian reserve. Fertility preservation at an early age also raises ethical questions that should be taken into account. In addition, spontaneous conception despite POI is well described in classic galactosemia. The uncertainty surrounding fertility preservation and the significant chance of spontaneous pregnancy warrant counseling towards conservative application of these techniques. We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age. PMID:23866841

  13. Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

    PubMed

    Byeon, Seul Kee; Kim, Jin Yong; Lee, Jin-Sung; Moon, Myeong Hee

    2016-03-01

    A deficiency of α-galactosidase A causes Fabry disease (FD) by disrupting lipid metabolism, especially trihexosylceramide (THC). Enzyme replacement therapy (ERT) is clinically offered to FD patients in an attempt to lower the accumulated lipids. Studies on specific types of lipids that are directly or indirectly altered by FD are very scarce, even though they are crucial in understanding the biological process linked to the pathogenesis of FD. We performed a comprehensive lipid profiling of plasma and urinary lipids from FD patients with nanoflow liquid chromatography electrospray-ionization tandem mass spectrometry (nLC-ESI-MS/MS) and identified 129 plasma and 111 urinary lipids. Among these, lipids that exhibited alternations (>twofold) in patients were selected as targets for selected reaction monitoring (SRM)-based high-speed quantitation using nanoflow ultra-performance LC-ESI-MS/MS (nUPLC-ESI-MS/MS) and 31 plasma and 26 urinary lipids showed significant elevation among FD patients. Higher percentages of sphingolipids (SLs; 48 % for plasma and 42 % for urine) were highly elevated in patients; whereas, a smaller percentage of phospholipids (PLs; 15 % for plasma and 13 % for urine) were significantly affected. Even though α-galactosidase A is reported to affect THC only, the results show that other classes of lipids (especially SLs) are changed as well, indicating that FD not only alters metabolism of THC but various classes of lipids too. Most lipids showing significant increases in relative amounts before ERT decreased after ERT, but overall, ERT influenced plasma lipids more than urinary lipids. Graphical abstract Brief overview of lipidomic analysis for Fabry disease using nLC-ESI-MS/MS and nUPLC-ESI-MS/MS. PMID:26873218

  14. Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Münster Study (FaMüS) data

    PubMed Central

    Engelen, Markus A; Brand, Eva; Baumeister, Timo B; Marquardt, T; Duning, Thomas; Osada, Nani; Schaefer, Roland M; Stypmann, Joerg

    2012-01-01

    Objective Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism caused by deficient lysosomal α-galactosidase A activity. Progressive accumulation of globotriaosylceramide and related glycosphingolipids in vascular endothelial lysosomes of the heart, kidneys and brain is responsible for the main disease manifestations. The aim of our study was to assess short-term and long-term effects of enzyme replacement therapy (ERT) on cardiac mass and function. Design Retrospective cohort study. Setting Hospital outpatient clinic. Participants 40 FD patients (21 men, 19 women) receiving agalsidase β-ERT. Outcome measures The focus at baseline and follow-up examinations was on structural, functional (Doppler-echocardiography) as well as electrical changes (ECG) and blood pressure. Results In the Early Group, systolic and diastolic blood pressures significantly decreased. Left-ventricular (LV) also decreased; however, wall thickness and LV mass index showed no further increase. VE as an indicator for diastolic function significantly improved (64±21 vs 75±27 cm/s, p=0.038). There were no significant changes of ECG parameters. There were few relevant changes in the Late Group, albeit systolic blood pressure significantly decreased and QRS duration significantly increased. In conclusion, echocardiographic left-ventricular mass index, interventricular septum thickness, left-ventricular posterior wall, left-ventricular end-diastolic dimension) and diastolic function parameters are valuable for follow-up and guidance of therapy. Conclusions The primary positive impact of ERT appears to be an early effect after the start of therapy, and early initiation of ERT should be recommended. PMID:23175739

  15. Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients.

    PubMed

    Boutin, Michel; Lavoie, Pamela; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder, caused by a deficit in α-galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso-Gb3 ), globotriaosylceramide (Gb3 ), and galabiosylceramide (Ga2 ) in organs, tissues and biological fluids. A recent metabolomic study performed in plasma revealed lyso-Gb3 analogs as novel Fabry disease biomarkers. These molecules correspond to lyso-Gb3 with different chemical modifications on the sphingosine chain (-C2 H4 , -H2 , +O, +H2 O, +H2 O2, and +H2 O3 ). An ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) method was developed and validated for the multiplex analysis of lyso-Gb3 and its 6 analogs in plasma. The samples are prepared by solid phase extraction using mixed-mode strong cation exchange (MCX) cartridges. An in-house synthesized N-glycinated lyso-Gb3 derivative was used for the internal standard. The limits of detection (LODs) measured for lyso-Gb3 and its analogs ranged from 0.06 to 0.29 nM. © 2016 by John Wiley & Sons, Inc. PMID:27367163

  16. How patient-centered do female physicians need to be? Analogue patients' satisfaction with male and female physicians' identical behaviors.

    PubMed

    Hall, Judith A; Roter, Debra L; Blanch-Hartigan, Danielle; Mast, Marianne Schmid; Pitegoff, Curtis A

    2015-01-01

    Previous research suggests that female physicians may not receive appropriate credit in patients' eyes for their patient-centered skills compared to their male counterparts. An experiment was conducted to determine whether a performance of higher (versus lower) verbal patient-centeredness would result in a greater difference in analogue patient satisfaction for male than female physicians. Two male and two female actors portrayed physicians speaking to a patient using high or low patient-centered scripts while not varying their nonverbal cues. One hundred ninety-two students served as analogue patients by assuming the patient role while watching one of the videos and rating their satisfaction and other evaluative responses to the physician. Greater verbal patient-centeredness had a stronger positive effect on satisfaction and evaluations for male than for female physicians. This pattern is consistent with the hypothesis that the different associations between patient-centeredness and patients' satisfaction for male versus female physicians occur because of the overlap between stereotypical female behavior and behaviors that comprise patient-centered medical care. If this is the case, high verbal patient-centered behavior by female physicians is not recognized as a marker of clinical competence, as it is for male physicians, but is rather seen as expected female behavior. PMID:25175277

  17. Choroidoretinal granuloma in a young female patient

    PubMed Central

    Massa, Horace F; Gatzioufas, Zisis; Mangioris, Georgios; Panos, Georgios D

    2014-01-01

    A 16-year-old Brazilian female patient presented with blurring of vision in the right eye. Corrected visual acuity was OD 2/20, OS 20/20. Afferent pupillary defect was absent and anterior segment examination revealed anterior uveitis. Fundus examination showed light vitritis and a raised grey–white granuloma located at posterior pole with focal serous retinal detachment on optical coherence. Indocyacnine green angiography disclosed a complete mask effect in granuloma's area. Differential diagnoses were infectious (bacterial, viral, fungal and parasites) diseases, systemic inflammatory diseases, tumours. Blood serologies (HIV, toxoplasma, Borrelia, cytomegalovirus (CMV), herpes simplex virus (HSV), varicella-zoster virus (VZV), rubeola) showed positive results for IgM and IgG for toxoplasma, and anterior chamber tap (PCR for toxoplasma, CMV, HSV, VZV) revealed toxoplasma DNA. Anti-toxoplasma therapy, pyrimethamine, sulfadiazine and calcium folinate, was administered immediately. On follow-up granuloma regression was observed, with complete visual restoration. This case demonstrates a clinically challenging posterior pole granuloma. PMID:24744062

  18. Choroidoretinal granuloma in a young female patient.

    PubMed

    Massa, Horace F; Gatzioufas, Zisis; Mangioris, Georgios; Panos, Georgios D

    2014-01-01

    A 16-year-old Brazilian female patient presented with blurring of vision in the right eye. Corrected visual acuity was OD 2/20, OS 20/20. Afferent pupillary defect was absent and anterior segment examination revealed anterior uveitis. Fundus examination showed light vitritis and a raised grey-white granuloma located at posterior pole with focal serous retinal detachment on optical coherence. Indocyacnine green angiography disclosed a complete mask effect in granuloma's area. Differential diagnoses were infectious (bacterial, viral, fungal and parasites) diseases, systemic inflammatory diseases, tumours. Blood serologies (HIV, toxoplasma, Borrelia, cytomegalovirus (CMV), herpes simplex virus (HSV), varicella-zoster virus (VZV), rubeola) showed positive results for IgM and IgG for toxoplasma, and anterior chamber tap (PCR for toxoplasma, CMV, HSV, VZV) revealed toxoplasma DNA. Anti-toxoplasma therapy, pyrimethamine, sulfadiazine and calcium folinate, was administered immediately. On follow-up granuloma regression was observed, with complete visual restoration. This case demonstrates a clinically challenging posterior pole granuloma. PMID:24744062

  19. Irritable Bowel Syndrome and Female Patients.

    PubMed

    Harris, Lucinda A; Umar, Sarah B; Baffy, Noemi; Heitkemper, Margaret M

    2016-06-01

    Irritable bowel syndrome is probably the most common functional gastrointestinal disorder and is characterized by abdominal pain along with altered bowel function. It is a disorder of female predominance. This article focuses on how being female influences the pathophysiology, diagnosis, management, and treatment of this common disorder and discusses the evidence and important controversies related to these areas. PMID:27261893

  20. Urethral cavernous hemangioma in a female patient: a rare entity

    PubMed Central

    Bolat, Mustafa Suat; Yüzüncü, Kubilay; Akdeniz, Ekrem; Demirdoven, Ayse Nurten

    2015-01-01

    Genitourinary hemangiomas are rare entities of the urinary system. We reported a female patient who suffered dyspareunia and intermitant hematuria that was proved as urethral cavernous hemangioma. Despite its benign nature, hemangiomas may recur due to incomplet excision. PMID:26985270

  1. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    PubMed Central

    Baptista, Ana; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio

    2015-01-01

    Background Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. Objective To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. Methods The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. Results A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. Conclusion In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5). PMID:26269958

  2. Paediatric Fabry disease

    PubMed Central

    2016-01-01

    Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms. PMID:26835405

  3. Paediatric Fabry disease.

    PubMed

    Ellaway, Carolyn

    2016-01-01

    Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms. PMID:26835405

  4. Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

    NASA Astrophysics Data System (ADS)

    Boutin, Michel; Auray-Blais, Christiane

    2015-03-01

    Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, as well as galabiosylceramide (Ga2) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga2 and Gb3 isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga2 isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga2 + Gb3 and respective isoforms/analogs), were present in urine of Fabry patients. Gb3 isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga2. A comparison between Ga2 isoforms/analogs and their Gb3 counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga2 (35.8%) compared with Gb3 (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb3 and Ga2 metabolites.

  5. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    PubMed Central

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient's risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis. PMID:27144044

  6. Clinical manifestations of neuromyelitis optica in male and female patients.

    PubMed

    Yin, Jianrui; Long, Youming; Shan, Fulan; Fan, Yongxiang; Wu, Linzhan; Zhong, Rong; Gao, Cong; Chen, Xiaohui; Gao, Qingchun; Yang, Ning

    2015-11-01

    Neuromyelitis optica (NMO) is a severe, idiopathic, immuno-mediated, inflammatory demyelinating disease of the central nervous system. We examined the clinical features between male and female NMO patients, for which not much data exist. One hundred and eight Chinese Han patients with NMO were analysed retrospectively, all had been detected for the aquaporin-4 (AQP4) antibody using a cell-based assay. Of 108 NMO patients, 92 were female and 16 were male (female/male = 5.75). Ninety-four (87%) were positive for the AQP4 antibody in their serum and/or cerebral spinal fluid. Aquaporin-4 antibody-positive NMO patients had a higher female/male ratio than the negative group (P = 0.001). Female NMO patients had a higher positive rate of the AQP4 antibody than male NMO patients (92.4 vs 56.3%, P = 0.001). All NMO male patients were divided according to their AQP4 antibody status. 77.8% (7/9) of patients in the seropositive group had initial optic neuritis, while only one patient (14.3%, 1/7) in the negative group had optic neuritis (P = 0.041). Limb paraesthesia was reported in only one patient in the negative group (11.1%), but it was reported in all patients in the positive group (100%) (P = 0.001). The mean length of vertebral segments of the spinal cord lesions was 3.6 ± 1.3 in the positive group, while it was 6.6 ± 2.6 in the negative group (P < 0.0001). The involvement of the cervical spinal cord was found in 88.9% (8/9) of the positive members, but only 11.1% in the negative group (P = 0.009). However, the involvement of the thoracic spinal cord was found in 22.2% of patients in the positive group and 85.7% of patients in the negative members (P = 0.041). In conclusion, male NMO is rare and has a low positive rate of AQP4 antibody. PMID:26213113

  7. Fingolimod suppresses bone resorption in female patients with multiple sclerosis.

    PubMed

    Miyazaki, Yusei; Niino, Masaaki; Kanazawa, Ippei; Suzuki, Masako; Mizuno, Masanori; Hisahara, Shin; Fukazawa, Toshiyuki; Takahashi, Eri; Amino, Itaru; Ochi, Ryutaro; Nakamura, Masakazu; Akimoto, Sachiko; Minami, Naoya; Fujiki, Naoto; Doi, Shizuki; Shimohama, Shun; Terayama, Yasuo; Kikuchi, Seiji

    2016-09-15

    Fingolimod is a sphingosine-1-phosphate receptor agonist used to inhibit the inflammatory activity of multiple sclerosis (MS), and has been shown to suppress osteoporosis in mouse models. In this study, levels of bone turnover markers were quantified in serum and urine samples from MS patients treated with fingolimod. Compared with untreated MS patients and healthy controls, fingolimod-treated MS patients had a significantly lower level of the bone resorption marker type I collagen cross-linked N-telopeptide in urine. This finding was prominent in female but was not seen in male subjects. Our results suggest that fingolimod may have a beneficial effect on bone mass loss in female MS patients. PMID:27609272

  8. Ovarian function in female patients with multibacillary leprosy.

    PubMed

    Neena, Khanna; Ammini, A C; Singh, Manjula; Pandhi, Ravindra Kumar

    2003-06-01

    Eighty six adult female patients with multibacillary leprosy were included to study the sex hormone profile LH, FSH, and prolactin, as well as their gynecological events like menstrual function and fertility status. A third of the patients gave a history of irregularity of periods. The mean levels of LH and FSH were significantly higher in patients with multibacilary leprosy vis-à-vis the controls. Of the 24 married women with irregularity of periods, 12 (50%) were infertile. Seven of these patients had elevated levels of FSH and LH, almost reaching castration levels. PMID:12914132

  9. Acne in the adult female patient: a practical approach.

    PubMed

    Kamangar, Faranak; Shinkai, Kanade

    2012-10-01

    Acne vulgaris is a common reason why adult women present to dermatologists and can be a clinical challenge to treat. It may also be an important sign of an underlying endocrine disease such as Polycystic Ovary Syndrome (PCOS). Although standard acne therapies can be successfully used to treat acne in adult female patients, hormonal treatment is a safe and effective therapeutic option that may provide an opportunity to better target acne in this population, even when other systemic therapies have failed. In this article, a practical approach to the adult female patient with acne will be reviewed to enhance the dermatologist's ability to use hormonal acne therapies and to better identify and evaluate patients with acne in the setting of a possible endocrine disorder. PMID:22994662

  10. Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?

    PubMed

    Waldek, Stephen; Feriozzi, Sandro

    2014-01-01

    Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, epithelial cells and the tubular cells of the distal tubule and loop of Henle contribute to the renal symptoms of Fabry disease, which manifest as proteinuria and reduced glomerular filtration rate leading to chronic kidney disease and progression to end-stage renal disease. Early diagnosis and timely initiation of treatment of Fabry renal disease is an important facet of disease management. Initiating treatment with enzyme replacement therapy (ERT; agalsidase alfa, Replagal®, Shire; agalsidase beta, Fabrazyme®, Genzyme) as part of a comprehensive strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline. Early initiation of ERT may also be more effective than initiating therapy in patients with more advanced disease. Several strategies are required to complement the use of ERT and treat the myriad of associated symptoms and organ involvements. In particular, patients with renal Fabry disease are at risk of cardiovascular events, such as high blood pressure, cardiac arrhythmias and stroke. This review discusses the management of renal involvement in Fabry disease, including diagnosis, treatments, and follow-up, and explores recent advances in the use of biomarkers to assist with diagnosis, monitoring disease progression and response to treatment. PMID:24886109

  11. Genetics Home Reference: Fabry disease

    MedlinePlus

    ... National Organization for Rare Disorders (NORD) National Tay-Sachs & Allied Diseases Association, Inc. Resource list from the ... Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, ...

  12. [Cardiac involvement in Fabry's disease].

    PubMed

    Weidemann, Frank; Breunig, Frank

    2008-03-15

    Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. The disease is characterized by a progressive involvement of important vital organs like the kidneys, the cerebrovascular system and the heart. Within the scope of this article an overview of Fabry's cardiomyopathy, the necessary cardiac diagnostic tests and, in addition, the new concept of enzyme replacement therapy is given. PMID:18344066

  13. Body Image and the Female Adolescent Oncology Patient.

    PubMed

    Burg, Alison Joy

    2016-01-01

    Female adolescent oncology patients undergo many physical changes throughout treatment that have challenging psychological, emotional, and social implications. Body image for this population is a subject that tends to be overlooked in the midst of the cancer experience. This article will examine the complex concept of body image and discuss why female adolescent patients are at such high risk for negative body image. Assessment and care strategies are needed to foster a positive body image, resiliency, and overall well-being. Although survivorship studies may offer insightful information about the effects of the cancer journey on long-term body image, focus should be on prevention and holistic care as part of the treatment itself. The health care team, especially nursing professionals, should acknowledge, recognize, and address this vital issue as a critical part of oncology care. PMID:25643971

  14. Female sexual dysfunction in patients with substance-related disorders

    PubMed Central

    Diehl, Alessandra; da Silva, Rosiane Lopes; Laranjeira, Ronaldo

    2013-01-01

    OBJECTIVE: To estimate the prevalence of female sexual dysfunction symptoms and the associated risk factors in a sample of patients with substance-related disorders admitted to a specialized in-patient care unit. METHODS: This study used a cross-section design, with eight months of data collection, conducted with substance-dependent women using structured questionnaires to collect socio-demographic data and identify their drug of choice. The Drug Abuse Screening Test, Short Alcohol Dependence Data questionnaire, Fagerström Test for Nicotine Dependence, and Arizona Sexual Experience Scale were also administered. RESULTS: The sample consisted of 105 women who had a mean age of 34.8 years (SD = 12.1, range = 18-65) and were predominantly heterosexual (74.3%), single (47.6%), Caucasian (50.5%), catholic (36.2%), and educated only to the level of primary education (40%), with a monthly family income of up to one minimum salary (37.5%). In 42.9% of the patients, crack was the drug of choice; 47.6% of the sample qualified for the Drug Abuse Screening Test (substantial problems related to drugs), 43.8% exhibited Short Alcohol Dependence Data (moderate or severe dependency), 47.6% exhibited Fagerström Test for Nicotine Dependence (high or very high nicotine dependence). The prevalence of sexual dysfunction symptoms was 34.2% (95% CI = [25.3, 44.1]), and a high level of nicotine dependence and low income increased the chances of having sexual dysfunction by 2.72-fold and 2.54 fold, respectively. An association was also observed between female sexual dysfunction symptoms and schooling and levels of drug dependence. CONCLUSIONS: Female sexual dysfunction symptoms were common among this sample and primarily associated with high levels of nicotine use. PMID:23525317

  15. Chronic facial pain in the female patient: treatment updates.

    PubMed

    Stavropoulos, Franci; Hastie, Barbara A

    2007-05-01

    Over the past decade, gender-related differences in pain and analgesia have been examined in experimental settings with conflicting evidence on whether men and women differ in their response to pain. New advances in research have begun to investigate the influence of genetic factors in moderating sex differences in analgesic response. This article provides oral and maxillofacial surgeons with evidence-based data on the issues of chronic pain between the sexes to suggest alternative approaches to the management of pain in their male and female patients. PMID:18088882

  16. Inhaled corticosteroids can reduce osteoporosis in female patients with COPD

    PubMed Central

    Liu, Shih-Feng; Kuo, Ho-Chang; Liu, Guan-Heng; Ho, Shu-Chen; Chang, Huang-Chih; Huang, Hung-Tu; Chen, Yu-Mu; Huang, Kuo-Tung; Chen, Kuan-Yi; Fang, Wen-Feng; Lin, Meng-Chih

    2016-01-01

    Background Whether the use of inhaled corticosteroids (ICSs) in patients with COPD can protect from osteoporosis remains undetermined. The aim of this study is to assess the incidence of osteoporosis in patients with COPD with ICS use and without. Patients and methods This is a retrospective cohort and population-based study in which we extracted newly diagnosed female patients with COPD between 1997 and 2009 from Taiwan’s National Health Insurance (TNHI) database between 1996 and 2011 (International Classification of Diseases, Ninth Revision – Clinical Modification [ICD-9-CM] 491, 492, 496). The patients with COPD were defined by the presence of two or more diagnostic codes for COPD within 12 months on either inpatient or outpatient service claims submitted to TNHI. Patients were excluded if they were younger than 40 years or if osteoporosis had been diagnosed prior to the diagnosis of COPD and cases of asthma (ICD-9 CM code 493.X) before the index date. These enrolled patients were followed up till 2011, and the incidence of osteoporosis was determined. The Cox proportional hazards regression model was also used to estimate hazard ratios (HRs) for incidences of lung cancer. Results Totally, 10,723 patients with COPD, including ICS users (n=812) and nonusers (n=9,911), were enrolled. The incidence rate of osteoporosis per 100,000 person years is 4,395 in nonusers and 2,709 in ICS users (HR: 0.73, 95% confidence interval [CI]: 0.63–084). The higher ICS dose is associated with lower risk of osteoporosis (0 mg to ≤20 mg, HR: 0.84, 95% CI: 0.69–1.04; >20 mg to ≤60 mg, HR: 0.78, 95% CI: 0.59–1.04; and >60 mg, HR: 0.72, 95% CI: 0.55–0.96; P for trend =0.0023) after adjusting for age, income, and medications. The cumulative osteoporosis probability significantly decreased among the ICS users when compared with the nonusers (P<0.001). Conclusion Female patients with COPD using ICS have a dose–response protective effect for osteoporosis. PMID:27478374

  17. Treatment of Osteitis Pubis in Non-Athlete Female Patients

    PubMed Central

    Kavroudakis, E; Karampinas, P.K; Evangelopoulos, D.S; Vlamis, J

    2011-01-01

    Background: Osteitis pubis represents a non-infectious inflammation of the pubic symphysis causing varying degrees of lower abdominal and pelvic pain. Although, the disease is believed to affect mainly young athletic patients, it is also encountered in other specific patient groups. Both conservative and surgical treatment options are available. While for elite athletes surgical treatment is indicated, leading to fast pain relief and mobilization, for non-athletic patients no clear indication can be established. Methods: Eight non-athletic women with osteitis pubis, referred to our Department for treatment, were evaluated. All were initially treated conservatively with bed rest, per os non steroidal anti-inflammatory drugs and physical therapy. Results: Seven patients improved significantly with conservative treatment while one displayed no improvement and was treated surgically with arthrodesis. Conclusion: We conclude that, for non-athletic female patients suffering from osteitis pubis, surgery is rarely required and that conservative treatment by means of non steroidal anti inflammatory drugs and physical modalities represents a fair option regarding pain and limitation of everyday activity. PMID:21966337

  18. Side-hairline Correction in Korean Female Patients

    PubMed Central

    2015-01-01

    Background: To investigate the proper modifications and usefulness of side-hairline correction surgery in Korean female patients depending on different zygomatic bone structures. Methods: Different zygomatic bone structures were classified according to their maximum transverse width among 310 cases of hairline correction surgery in Korean women. The widest transverse width was located on the anterior zygomatic malar area in type 1, on the mid-zygomatic arch in type 2, and on the posterior zygomatic arch in type 3; there was no difference in the transverse width between the anterior and posterior zygomatic arch in type 4. Various modifications of side-hairline correction surgery were performed among the 310 cases according to the zygomatic bone classification. Results: Among 310 patients, 74 had a type 1 zygomatic structure, 106 had type 2, 46 had type 3, and 50 had type 4. Thirty-four patients exhibited different left and right transverse widths: type 1 + 2 (n = 26), type 2 + 3 (n = 6), type 1 + 3 (n = 1), and type 3 + 4 (n = 1). Satisfactory results were obtained in all patients without noticeable side effects. A minor touch-up procedure was performed in 14 patients to achieve density reinforcement 10 months postoperatively, and all 14 patients expressed satisfaction with the results. Conclusions: In East Asian patients, both side-hairline correction surgery and zygoma reduction can be considered eligible treatment options for the purpose of midface slimming. Especially in patients with a type 3 zygomatic bone structure, side-hairline correction surgery may be more effective than zygoma reduction surgery for midface slimming. PMID:25878947

  19. Cluster Headache: Special Considerations for Treatment of Female Patients of Reproductive Age and Pediatric Patients.

    PubMed

    VanderPluym, Juliana

    2016-01-01

    Cluster headache is a rare disorder that is more common in adult male patients. It has a unique phenotype of unilateral, severe, to very severe headaches lasting 15 to 180 min with ipsilateral autonomic symptoms. Time to correct diagnosis can be protracted. A number of treatment options exist for the standard cluster headache patient, but special considerations must be made for female patients of reproductive age and pediatric patients. The objective of this article is to explore the current literature pertaining to special considerations in cluster headache management, including treatment of pregnant or breastfeeding patients and pediatric patients. PMID:26711274

  20. Early and Mid-term Outcomes in Female Patients Undergoing Isolated Conventional Coronary Surgery

    PubMed Central

    Erguneş, Kazim; Yilik, Levent; Yetkin, Ufuk; Lafcı, Banu; Bayrak, Serdar; Ozpak, Berkan; Gurbuz, Ali

    2014-01-01

    Introduction: Several observational studies comparing outcomes between female and male patients after coronary artery bypass grafting (CABG) have shown that operative mortality rate is higher among female patients than in male patients. However, some conflicting studies report that early mortality among female patients is equivalent to that among male patients. We investigated predictive factors of morbidity, mortality and survival in female patients undergoing isolated conventional CABG. Methods: Between January 2002 and December 2009, 1657 patients underwent isolated conventional CABG in our clinic. 21.8% (n=361) of patients were female and 78.2% (n=1296) males. Results: Advanced age (P<0.0001), hypertension (P<0.0001), diabetes (P<0.0001), and hyperlipidemia (P<0.0001) were the independent predictive factors among female patients. Mean in-hospital mortality rates were 5.8% and 3.2%; for females and males, respectively (P=0.029). Prolonged ventilatory support (P=0.009) and postoperative atrial fibrillation (P=0.049) were the independent predictive factors of in-hospital mortality in female patients. Cardiopulmonary bypass time (P=0.041), prolonged ventilatory support (P<0.0001), and postoperative atrial fibrillation (P=0.031) were the independent predictive factors of in-hospital mortality in male patients. Mean follow-up was 47.51±25.06 months and 48.42±25.21 months among female and male patients (P=0.820). In follow-up, mortality rate was 6.1% (n=22) among female patients and 4.6% (n=60) among male patients (P=0.272). Left internal thoracic artery (LITA) usage (P=0.001) was the independent predictive factor of survival in female patients. Conclusion: In-hospital mortality rate was higher in female patients. Length of ICU and hospital stay, and mid-term survival was similar between female and male patients. PMID:25031826

  1. Female Patients Require a Higher Propofol Infusion Rate for Sedation.

    PubMed

    Maeda, Shigeru; Tomoyasu, Yumiko; Higuchi, Hitoshi; Honda, Yuka; Ishii-Maruhama, Minako; Miyawaki, Takuya

    2016-01-01

    Sedation may minimize physiologic and behavioral stress responses. In our facility, the infusion rate of propofol is adjusted according to the bispectral index (BIS) in all cases of implant-related surgery; multivariate analysis of retrospective data enabled us to extract independent factors that affect the dose of propofol in sedation that are considered useful indicators for achieving adequate sedation. The study population comprised all patients undergoing implant-related surgery under intravenous sedation in Okayama University Hospital from April 2009 to March 2013. The infusion rate of propofol was adjusted to maintain the BIS value at 70-80. The outcome was the average infusion rate of propofol, and potential predictor variables were age, sex, body weight, treatment time, and amount of midazolam. Independent variables that affected the average infusion rate of propofol were extracted with multiple regression analysis. One hundred twenty-five subjects were enrolled. In the multiple regression analysis, female sex was shown to be significantly associated with a higher average infusion rate of propofol. Females may require a higher infusion rate of propofol than males to achieve adequate sedation while undergoing implant-related surgery. PMID:27269663

  2. The prolonged clotting time in two female patients with thromboangiitis obliterans

    PubMed Central

    Dang, Yiping; Xia, Yin; Li, Yiqing; Yu, DannyCW

    2013-01-01

    Thromboangiitis obliterans (TAO), also known as Buerger's disease, is segmental non-atherosclerotic inflammatory disease, which affects the small and medium-sized peripheral arteries, veins and nerves of young adult smokers. The paper reports two TAO female patients, 26-year-old and 42-year-old, with prolonged clotting time. We compared 13 male patients and 2 female patients with TAO. The prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) were normal in the male patients, whereas the clotting times were prolonged in the female patients. Coagulation tests including PT, APTT and TT evaluation could be the potential markers to female patients with TAO. PMID:23749821

  3. A Nutrition Screening Form for Female Infertility Patients.

    PubMed

    Langley, Susie

    2014-12-01

    A Nutrition Screening Form (NSF) was designed to identify lifestyle risk factors that negatively impact fertility and to provide a descriptive profile of 300 female infertility patients in a private urban infertility clinic. The NSF was mailed to all new patients prior to the initial physician's visit and self-reported data were assessed using specific criteria to determine if a nutrition referral was warranted. This observational study revealed that 43% of the women had a body mass index (BMI) <20 or ≥25 kg/m(2), known risks for infertility. Almost half reported a history of "dieting" and unrealistic weight goals potentially limiting energy and essential nutrients. A high number reported eating disorders, vegetarianism, low fat or low cholesterol diets, and dietary supplement use. Fourteen percent appeared not to supplement with folic acid, 13% rated exercise as "extremely" or "very active", and 28% reported a "high" perceived level of stress. This preliminary research demonstrated that a NSF can be a useful tool to identify nutrition-related lifestyle factors that may negatively impact fertility and identified weight, BMI, diet, exercise, and stress as modifiable risk factors deserving future research. NSF information can help increase awareness among health professionals and patients about the important link between nutrition, fertility, and successful reproductive outcomes. PMID:26067073

  4. Gynaecological Prolapse Surgery in Very Old Female Patients

    PubMed Central

    Mothes, A. R.; Lehmann, T.; Kwetkat, A.; Radosa, M. P.; Runnebaum, I. B.

    2016-01-01

    Background: The aim of this study is to compare very elderly female patients with a younger control group after prolapse surgery with regard to co-morbidity and complications. Method: In a case-control design, the consecutive data of patients after prolapse surgery at the age of over 80 years and those of a control group were analysed by means of the Clavien-Dindo (CD) classification of surgical complications, the Charlson Comorbidity Index and the Cumulative Illness Rating Scale Geriatrics (CIRS-G). Statistics: Studentʼs t, Fisherʼs exact and Mann-Whitney U tests. Results: The analysis comprised n = 57 vs. n = 60 operations. In the very elderly patients there was often a grade IV prolapse (p < 0.001), apical fixations were more frequent (p < 0.001), but the operating times were not different. In the very elderly patients 21 % CD II+III complications were observed, in the control group 6.6 % (p = 0.031). No CD IV and V complications occurred in either group, the duration of inpatient stay amounted to 5 (± 1) vs. 4.1 (± 0.8; p < 0.001) days, the very elderly patients needed an inpatient follow-up more frequently (p < 0.001). The co-morbidities of the very elderly patients differed from those of the control group in number (median 2.0 vs. 1.5; p < 0.001), in CIRS-G (4.1 ± 2.2 vs. 2.4 ± 1.7; p < 0.01) and in Charlson Index (1.6 ± 1.6 vs. 0.5 ± 0.7; p < 0.001). Conclusions: A prolapse in very elderly women can be safely managed by surgery. In no case did the complications require intensive care treatment nor were they life-threatening, but they did lead to a longer duration of hospital stay and more frequently to further treatment geriatric or inpatient internal medicine facilities. PMID:27582580

  5. Patient-Centered Mental Health Care for Female Veterans

    PubMed Central

    Kimerling, Rachel; Bastian, Lori A.; Bean-Mayberry, Bevanne A.; Bucossi, Meggan M.; Carney, Diane V.; Goldstein, Karen M.; Phibbs, Ciaran S.; Pomernacki, Alyssa; Sadler, Anne G.; Yano, Elizabeth M.; Frayne, Susan M.

    2016-01-01

    Objective Mental health services for women vary widely across the Veterans Health Administration (VHA) system, without consensus on the need for, or organization of, specialized services for women. Understanding women’s needs and priorities is essential to guide the implementation of patient-centered behavioral health services. Methods In a cross-sectional, multisite survey of female veterans using primary care, potential stakeholders were identified for VHA mental health services by assessing perceived or observed need for mental health services. These stakeholders (N=484) ranked priorities for mental health care among a wide range of possible services. The investigators then quantified the importance of having designated women’s mental health services for each of the mental health services that emerged as key priorities. Results Treatment for depression, pain management, coping with chronic general medical conditions, sleep problems, weight management, and posttraumatic stress disorder (PTSD) emerged as women’s key priorities. Having mental health services specialized for women was rated as extremely important to substantial proportions of women for each of the six prioritized services. Preference for primary care colocation was strongly associated with higher importance ratings for designated women’s mental health services. For specific types of services, race, ethnicity, sexual orientation, PTSD symptoms, and psychiatric comorbidity were also associated with higher importance ratings for designated women’s services. Conclusions Female veterans are a diverse population whose needs and preferences for mental health services vary along demographic and clinical factors. These stakeholder perspectives can help prioritize structural and clinical aspects of designated women’s mental health care in the VHA. PMID:25642611

  6. [Priapism associated with Fabry's disease].

    PubMed

    Jaureguizar Monereo, E; López Pereira, P; Cabo, J; Gutiérrez, J M; García-Consuegra, J; Martínez Olivas, J; López Santamaría, M

    1990-07-01

    We present a rare case of priapism in a child, ten years old, in association with Fabry's disease. The child had a history of disseminated nodular enlargement, crises of fever, intermittent pain in the extremities and ten hours persistent painful erection of the penis. We don't obtain pain or erection relief with sedation, epidural block and irrigation of the corporal bodies. A saphenous-cavernous shunt, in the Grayhack fashion made, being results satisfactory. In the follow-up, the child had sporadic pain in the extremities and no erection of the penis. The cavernosography showed the shunt open. Fabry's disease was confirmed by nodular biopsy and the demonstration of deficient alpha-galactosidase. PMID:2127372

  7. Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

    PubMed

    Cammisa, Marco; Correra, Antonella; Andreotti, Giuseppina; Cubellis, Maria Vittoria

    2013-01-01

    Fabry_CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the responsiveness of lysosomal alpha-galactosidase mutants to a small molecule drug, namely 1-Deoxy-galactonojirimycin. The user can introduce any missense/nonsense mutation in the coding sequence, learn whether it is has been tested and gain access to appropriate reference literature. In the absence of experimental data structural, functional and evolutionary analysis provides a prediction and the probability that a given mutation is responsive to the drug. PMID:23883437

  8. Comparison of acute non-haemolytic transfusion reactions in female and male patients receiving female or male blood components

    PubMed Central

    Imoto, S; Araki, N; Shimada, E; Saigo, K; Nishimura, K; Nose, Y; Bouike, Y; Hashimoto, M; Mito, H; Okazaki, H

    2007-01-01

    To study the relationship between antibodies detected in patients’ and/or donors’ sera and the clinical features of acute non-haemolytic transfusion reactions (ANHTRs), and to determine any gender-related difference. ANHTRs range from urticaria to transfusion-related acute lung injury (TRALI). Antibodies to human leukocyte antigen (HLA), granulocytes, platelets, and/or plasma proteins are implicated in some of the ANHTRs. A higher antibody positivity is expected for females than for males. A comparative study of ANHTRs for antibody positivity and their clinical features between females and males for both patients and donors is helpful for characterizing ANHTRs including TRALI more clearly, but such studies are few and outdated. Two hundred and twenty-three ANHTR cases reported by 45 hospitals between October 2000 and July 2005 were analysed. The patients and 196 donors of suspect blood products were screened for antibodies to HLA Class I, HLA Class II, granulocytes, and platelets. The patients were also screened for anti-plasma protein antibodies. The types and severity of ANHTR did not differ significantly between female and male patients. The frequency of the anti-HLA antibodies, but not that of the non-HLA antibodies, was significantly higher in females. Non-HLA antibodies were significantly associated with severe reactions in females. All the TRALI cases had predisposing risk factors for acute lung injury, and 60% of the cases showed anti-leucocyte antibodies. Although the anti-HLA antibodies were detected more frequently in females than males, no significant association of ANHTRs including TRALI with gender, not only for patients, but also for donors, could be shown in this study. PMID:18067650

  9. Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy

    PubMed Central

    Krämer, Johannes; Bijnens, Bart; Störk, Stefan; Ritter, Christian O.; Liu, Dan; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2015-01-01

    Background In spite of several research studies help to describe the heart in Fabry disease (FD), the cardiomyopathy is not entirely understood. In addition, the impact of blood pressure and alterations in geometry have not been systematically evaluated. Methods In 74 FD patients (mean age 36±12 years; 45 females) the extent of myocardial fibrosis and its progression were quantified using cardiac magnetic-resonance-imaging with late enhancement technique (LE). Results were compared to standard echocardiography complemented by 2D-speckle-tracking, 3D-sphericity-index (SI) and standardized blood pressure measurement. At baseline, no patient received enzyme replacement therapy (ERT). After 51±24 months, a follow-up examination was performed. Results Systolic blood pressure (SBP) was higher in patients with vs. without LE: 123±17 mmHg vs. 115±13 mmHg; P = 0.04. A positive correlation was found between SI and the amount of LE-positive myocardium (r = 0.51; P<0.001) indicating an association of higher SI in more advanced stages of the cardiomyopathy. SI at baseline was positively associated with the increase of LE-positive myocardium during follow-up. The highest SBP (125±19 mmHg) and also the highest SI (0.32±0.05) was found in the subgroup with a rapidly increasing LE (ie, ≥0.2% per year; n = 16; P = 0.04). Multivariate logistic regression analysis including SI, SBP, EF, left ventricular volumes, wall thickness and NT-proBNP adjusted for age and sex showed SI as the most powerful parameter to detect rapid progression of LE (AUC = 0.785; P<0.05). Conclusions LV geometry as assessed by the sphericity index is altered in relation to the stage of the Fabry cardiomyopathy. Although patients with FD are not hypertensive, the SBP has a clear impact on the progression of the cardiomyopathy. PMID:26600044

  10. The consequences of task delegation for the process of care: Female patients seem to benefit more.

    PubMed

    Noordman, Janneke; van Dulmen, Sandra

    2016-01-01

    The shift of tasks from primary care physicians to practice nurses and the continuing incease in the numbers of women involved in medical care may have consequences for the provision of health care and communication. The aim of the present study was to examine potential differences in female practice nurses' application of communication skills, practice guidelines, and motivational interviewing skills during consultations with female and male patients. Nineteen female practice nurses and their patients (n = 181) agreed to have their consultations videotaped (during 2010-2011). The videotaped consultations were rated using two validated instruments: the Maas-Global (to assess generic communication skills and practice guidelines) and the Behaviour Change Counselling Index (to assess motivational interviewing skills). Multilevel linear and logistic regression analyses were performed. Female practice nurses provided significantly more comprehensive information during consultations with female patients (p = .03) and talked more about management with male patients (p = .04). Furthermore, nurses applied motivational interviewing skills more clearly during consultations with female than with male patients (p < .01). The shift in tasks from primary care physicians toward practice nurses may have implications for clinical and patient outcomes as patients will no longer be counseled by male professionals. Conceivably, female patients are motivated more by nurses to change their behavior, while male patients receive more concrete management information or advice. PMID:26325441

  11. Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up

    PubMed Central

    Korsholm, Kirsten; Feldt-Rasmussen, Ulla; Granqvist, Henrik; Højgaard, Liselotte; Bollinger, Birgit; Rasmussen, Aase K.; Law, Ian

    2015-01-01

    Background Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A—leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased risk of cerebrovascular disease at a young age in addition to heart and kidney failure. Objective The objective of this study was to assess brain function and structure in the Danish cohort of patients with Fabry disease in a prospective way using 18-fluoro-deoxyglucose (F-18 FDG) positron emission tomography (PET) and magnetic resonance imaging (MRI). Patients Forty patients with Fabry disease (14 males, 26 females, age at inclusion: 10–66 years, median: 39 years) underwent a brain F-18-FDG-PET-scan at inclusion, and 31 patients were followed with FDG-PET biannually for up to seven years. All patients (except one) had a brain MRI-scan at inclusion, and 34 patients were followed with MRI biannually for up to nine years. Image Analysis The FDG-PET-images were inspected visually and analysed using a quantitative 3-dimensional stereotactic surface projection analysis (Neurostat). MRI images were also inspected visually and severity of white matter lesions (WMLs) was graded using a visual rating scale. Results In 28 patients brain-FDG-PET was normal; in 23 of these 28 patients brain MRI was normal—of the remaining five patients in this group, four patients had WMLs and one patient never had an MRI-scan. In 10 patients hypometabolic areas were observed on brain-FDG-PET; all of these patients had cerebral infarcts/hemorrhages visualized on MRI corresponding to the main hypometabolic areas. In two patients brain-FDG-PET was ambiguous, while MRI was normal in one and abnormal in the other. Conclusion Our data indicated that, in patients with Fabry disease, MRI is the preferable clinical modality—if applicable—when monitoring cerebral status, as no additional major brain

  12. [Refractory hypertention in a female patient with renal failure].

    PubMed

    Zuccalà, A; Losinno, F; Fiorenza, S; Lifrieri, F; Rapanà, R

    2005-01-01

    We report one sixty-seven years-old female who presented with hypertension refractory to antihypertensive drugs. She had an elevated BP for approximately 15 years. In the last 8-10 months her hypertension had become difficult to control. Her BP ranged between 180/100 mmHg and 220/1220 mmHg on atenolol 100 mg once daily, methyldopa 500 mg three times daily, furosemide 25 mg twice daily, doxazosine 4 mg twice daily. When she was referred to our unit serum creatinine was 2.3 mg/dL and she had a mild proteinuria (70 mg/dL) without microematuria. Ultrasonography showed a left kidney size in the low-normal range (LD 11 cm) and a small right kidney (LD 9 cm). Renal angiography showed a severe, ostial stenosis of the left renal artery and a total thrombosis of the right renal artery with a blood supply to the right kidney provided by collateral channels. An ACE-I was added to the therapy but a sharp increase in serum creatinina (up to 6.4 mg/dL) prompted us to withdraw the drug. She underwent a renal angioplasty on the left side and a Palmaz stent was placed. The control angiography showed a good anatomical result. Three months after the manoeuvre the patient was again referred to our unit with headache, nausea vomiting and hyper-tension refractory to amlodipine 10 mg/day, doxazosine 4 mg twice a a day, atenolol 50 mg/day, furosemide 50 mg/day. A doppler ultrasonography and a magnetic resonance angiogram showed no restenosis on the treated artery. An ACE-I was again administered and BP on this drug was 145/90 mmHg after one month and 130/85 after three months. Headache, nausea and vomiting disappeared. Serum creatinina kept unchanged (2.2 mg/dL). Comment. In this case the benefit of angioplasty on blood pressure control was indirect. Apparently the manoeuvre showed no effect on blood pressure, but the angioplasty allowed us to use of an ACE-Inhibitor, without any negative effect on renal function, and thus to adequately control blood pressure. PMID:16342054

  13. Urodynamic studies in female patients with multiple sclerosis.

    PubMed

    Beck, R P; Warren, K G; Whitman, P

    1981-02-01

    Patients with multiple sclerosis may have two fundamental, related problems in the lower urinary tract, i.e., urinary retention and/or urinary incontinence. Forty-six patients were assessed by urodynamic testing. Evidence of detrusor overactivity was seen in 40 patients (86.9%), elevated resting urethral pressures in 39 patients (84.8%), a positive bethanechol chloride (Urecholine) stress test in 24 patients (63.2%), and a significant residual urine in 26 patients (56.5%). Data were analyzed in an attempt to explain retention and incontinence in these patients. PMID:7468694

  14. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

    PubMed

    Pan, Xiaoxia; Ouyang, Yan; Wang, Zhaohui; Ren, Hong; Shen, Pingyan; Wang, Weiming; Xu, Yaowen; Ni, Liyan; Yu, Xialian; Chen, Xiaonong; Zhang, Wen; Yang, Li; Li, Xiao; Xu, Jing; Chen, Nan

    2016-01-01

    Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients. Totally 47 mutations were identified, including 23 novel mutations which might be pathogenic. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. Interestingly, two male patients with missense mutation p.R356G from two unrelated families, and two with p.R301Q from one family presented different phenotypes. A statistically significant association was found between the levels of α-gal A enzyme activity and ocular changes in males, though no significant association was found between residual enzyme activity level and genotype or clinical phenotypes. For female patients, six out of seven with frameshift mutations and one out of nine with missense mutation presented the classical FD, and α-gal A activity in those patients was found to be significantly lower than that of patients with atypical phenotypes (13.73 vs. 46.32 nmol/ml/h/mg). Our findings suggest that the α-gal A activity might be associated with the clinical severity in female patients with FD. But no obvious associations between activity level of α-gal A and genotype or clinical phenotypes were found for male patients. PMID:27560961

  15. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

    PubMed Central

    Wang, Zhaohui; Ren, Hong; Shen, Pingyan; Wang, Weiming; Xu, Yaowen; Ni, Liyan; Yu, Xialian; Chen, Xiaonong; Zhang, Wen; Yang, Li; Li, Xiao; Xu, Jing; Chen, Nan

    2016-01-01

    Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients. Totally 47 mutations were identified, including 23 novel mutations which might be pathogenic. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. Interestingly, two male patients with missense mutation p.R356G from two unrelated families, and two with p.R301Q from one family presented different phenotypes. A statistically significant association was found between the levels of α-gal A enzyme activity and ocular changes in males, though no significant association was found between residual enzyme activity level and genotype or clinical phenotypes. For female patients, six out of seven with frameshift mutations and one out of nine with missense mutation presented the classical FD, and α-gal A activity in those patients was found to be significantly lower than that of patients with atypical phenotypes (13.73 vs. 46.32 nmol/ml/h/mg). Our findings suggest that the α-gal A activity might be associated with the clinical severity in female patients with FD. But no obvious associations between activity level of α-gal A and genotype or clinical phenotypes were found for male patients. PMID:27560961

  16. Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease

    PubMed Central

    Lelieveld, Irene M.; Böttcher, Anna; Hennermann, Julia B.; Beck, Michael; Fellgiebel, Andreas

    2015-01-01

    Brain structural alterations and neuropsychiatric symptoms have been described repeatedly in Fabry disease, yet cognitive deficits have been shown to be only mild. Here, we aimed to investigate neuropsychiatric symptoms and brain structure longitudinally. We expected no clinically relevant increase of neuropsychiatric symptoms in parallel to increased brain structural alterations. We assessed 14 Fabry patients (46.1 ± 10.8 years) who had participated in our investigation eight years ago. Patients engaged in neuropsychiatric testing, as well as structural magnetic resonance imaging and angiography to determine white matter lesions, hippocampal volume, and the diameter of the larger intracranial arteries. While Fabry patients did not differ on cognitive performance, they showed progressive and significant hippocampal volume loss over the 8-year observation period. White matter lesions were associated with older age and higher white matter lesion load at baseline, but did not reach statistical significance when comparing baseline to follow-up. Likewise, intracranial artery diameters did not increase significantly. None of the imaging parameters were associated with the neuropsychiatric parameters. Depression frequency reduced from 50% at baseline to 21% at follow-up, but it did not reach significance. This investigation demonstrates clinical stability in cognitive function, while pronounced hippocampal atrophy is apparent throughout the 8 years. Our middle-aged Fabry patients appeared to compensate successfully for progressive hippocampal volume loss. The hippocampal volume decline indicates brain regional neuronal involvement in Fabry disease. PMID:26340726

  17. [The psychosocial aspects of female patients with genital cancer].

    PubMed

    Buiuc, A I

    1996-01-01

    Revealing a diagnosis as cancer, usually generates various emotional and psychosocial response in the patients: anxiety, negation of reality, passivity and generalized state of shock and anguish; long term projects and personal responsibilities are annihilated, the image of death grows enormously. Genital cancer women patients also exhibits sexual problems which can seriously complicate the psychic representation of disease and impair family life. Our study comprised 20 women patients who were hospitalized, with genital cancer diagnosis (ovarian cancer, neoplasms of the cervix and of the endometrium); by anamnesis and further discussions we tried to establish the main elements which generated different psychologic reactions. The perception of the reality of the diagnosis was proved to depend on age, personality type, doctor-patient and family-patient relationship. Each stage of disease and each treatment applied generates individual psychologic reaction which can be alleviated by communication between doctor and patients, by a patient adapted language. Complexity of psychological and sometimes psychic reactions of such patients requires that a psycho-oncologist be included in the complex oncologic treatment team; deeper knowledge of the problems and employment of individual or group therapy (the patient's family included) may lead to better psychic response to the malady. PMID:9455456

  18. Endocrine disruptors and female cancer: Informing the patients (Review).

    PubMed

    Del Pup, Lino; Mantovani, Alberto; Luce, Amalia; Cavaliere, Carla; Facchini, Gaetano; Di Francia, Raffaele; Caraglia, Michele; Berretta, Massimiliano

    2015-07-01

    Pollutants altering the endocrine system, known as endocrine disruptors (ED), may modify the risk of female cancers. The carcinogenic effect of ED on humans has been confirmed by experimental studies for various substances including pesticides, DDT, dioxins, phthalates, bisphenol A, diethylstilbestrol, as well as heavy metals, but it is difficult to quantify precisely for several reasons hereby reviewed. Carcinogenesis is a complex and multifactorial mechanism that manifests itself over a long period of time, making difficult the detection of the specific contribution of the pollutants, whose absorbed dose is often unknown. The combined effect of various substances leads to complex interactions whose outcome is difficult to predict. These substances may accumulate and carry out their harmful effect on critical periods of life, probably also at doses considered harmless to an adult. ED can also have epigenetic adverse effects on the health of future generations. In conclusion, the carcinogenic effects of endocrine disruptors on female cancer types is plausible although additional studies are needed to clarify their mechanisms and entities. In the last part of the review we suggest ways to reduce ED exposure as it is mandatory to implement necessary measures to limit exposure, particularly during those periods of life most vulnerable to the impact of oncogenic environmental causes, such as the embryonic period and puberty. PMID:25998096

  19. Language lateralization in female patients with schizophrenia: an fMRI study.

    PubMed

    Sommer, I E C; Ramsey, N F; Mandl, R C W; Kahn, R S

    2003-04-01

    Gender differences in schizophrenia are among the most consistently reported findings in schizophrenia research. However, the biological substrate underlying these gender differences is still largely unknown. Differences in language lateralization between men and women may underlie some gender differences in schizophrenia. In previous functional imaging studies, language lateralization was found to be decreased in male schizophrenia patients as compared to healthy males, which was due to enhanced language activation of the right hemisphere as compared to the healthy males. It could be hypothesized that decreased language lateralization in schizophrenia is gender specific, i.e. decreased lateralization in male patients and normal lateralization in female patients. To test this hypothesis, language activation was measured in 12 right-handed female patients with schizophrenia and 12 healthy females, and compared to findings in 12 male patients and 12 male controls of an earlier study. Language lateralization was significantly lower in the female patients (0.44) as compared to the female controls (0.75), which was due to increased activation of the right-sided language areas (patients: 19 voxels; controls: 8 voxels), while left hemisphere activation was similar in patients and controls. When these data are compared to the male patients and controls, both patient groups had lower lateralization than their healthy counterparts, but there was no difference between male and female patients. In both sexes, decreased lateralization resulted from increased right hemispheric language activation, which suggests a failure to inhibit nondominant language areas in schizophrenia. These findings indicate that lower language lateralization in women is not likely to underlie gender differences in schizophrenia. PMID:12591582

  20. Multicentric Biatrial Myxoma in a Young Female Patient: Case Report

    PubMed Central

    Yoon, Sang Jeong; Park, Soon Chang; You, Yun Pyo; Kim, Bum Yong; Kim, Myong Kon; Jeong, Kyung Tae; Lee, Jae Won

    2000-01-01

    We report a case of multicentric, biatrial cardiac myxoma in a 29-year-old female who complained of exertional dyspnea, abdominal distension and peripheral edema. Any other associated skin lesions, breast mass or endocrine disorder presenting complex form were not seen on her. Also, there was no contributory medical history, hypertension and diabetes mellitus. By using transthoracic echocardiography, we identified a biatrial myxoma attached to the interatrial septum. During surgical excision, we found a large right atrial myxoma with extension through the fossa ovalis into the left atrium and small myxoma attached to the right atrial free wall. After successful resection of interatrial septum and free wall, atrial septal defect was created during the resection and safely repaired by bovine pericardial patch. PMID:11242813

  1. [Problems of female cancer patients and their coping behavior].

    PubMed

    Herschbach, P; Rosbund, A M; Brengelmann, J C

    1985-08-01

    A questionnaire was developed with the aim of gathering basic information relevant to the psychosocial aftercare of cancer patients. The questionnaire deals with concrete everyday problems of breast and genital cancer patients, it allowed moreover an analysis of situation-specific coping strategies. The sample consists of 480 breast and genital cancer patients from various aftercare institutions. The results show a wide distribution of problems in many life situations. The most common problems were specific forms of anxiety, clinical symptoms and household problems. On the other hand, certain problems were identified which, although less common, proved to be extremely stressful for the affected patients. The analysis of different subgroups points to the large relative importance of sociodemographic and aftercare factors in the individual stress profile. With respect to coping behavior, the results show that neither personality-oriented nor situation-specific concepts alone provide an adequate approach. Coping strategies are not general but rather tied in specific ways to personality traits and to the form or degree of the problems. PMID:3912691

  2. Sexual Concerns of Male Spouses of Female Alzheimer's Disease Patients.

    ERIC Educational Resources Information Center

    Litz, Brett T.; And Others

    1990-01-01

    Presents case study which highlights attendant cognitive changes that occur in Alzheimer's patient, presenting caregiver with challenges to couple's sexual functioning. Describes man who reported erectile dysfunction directly stemming from stressful changes that had occurred in his relationship to his wife who had Alzheimer's disease. General…

  3. Electrophysiological Neuroimaging using sLORETA Comparing 22 Age Matched Male and Female Schizophrenia Patients

    PubMed Central

    Eugene, Andy R.; Masiak, Jolanta; Kapica, Jacek; Masiak, Marek

    2015-01-01

    Introduction The purpose of this electrophysiological neuroimaging study was to provide a deeper mechanistic understanding of both olanzapine and risperidone pharmacodynamics relative to gender. In doing so, we age-matched 22 men and women and evaluated their resting-state EEG recordings and later used standard low resolution brain Electrotomography to visualize the differences in brain activity amongst the two patient groups. Methods In this investigation, electroencephalogram (EEG) data were analyzed from male and female schizophrenia patients treated with either olanzapine or risperidone, both atypical antipsychotics, during their in-patient stay at the Department of Psychiatry. Twenty-two males and females were age-matched and EEG recordings were analyzed from 19 Ag/AgCl electrodes. Thirty-seconds of resting EEG were spectrally transformed in standardized low resolution electromagnetic tomography (sLORETA). 3D statistical non-paramentric maps for the sLORETA Global Field Power within each band were finally computed. Results The results indicated that, relative to males patients, females schizophrenia patients had increased neuronal synchronization in delta frequency, slow-wave, EEG band located in the dorsolateral prefrontal cortex, within the middle frontal gyrus (t= -2.881, p < 0.03580). These findings suggest that females experience greater dopamine (D2) receptor and serotonin (5-HT2) receptor neuronal blockade relative to age-matched males. Further, our finding provided insight to the pharmacodynamics of second-generation antipsychotics olanzapine and risperidone. Conclusion When compared to male patients, female patients, suffering from schizophrenia, have D2 and 5-HT2 receptors that are blocked more readily than age-matched male schizophrenia patients. Clinically, this may translate into a quicker time to treatment-response in females as compared to male patients. PMID:26617679

  4. Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

    PubMed Central

    Lukas, Jan; Torras, Joan; Navarro, Itziar; Giese, Anne-Katrin; Böttcher, Tobias; Mascher, Hermann; Lackner, Karl J.; Fauler, Guenter; Paschke, Eduard; Cruzado, Josep M.; Dudesek, Ales; Wittstock, Matthias; Meyer, Wolfgang; Rolfs, Arndt

    2012-01-01

    Background Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient plasma and urine were carried out using HPLC/MS-MS and ESI-MS. Results In the presented case, a female index patient led to the examination of three generations of a Spanish family. She presented with severe oto-cochlear symptoms and covert renal and cardiac involvement. While conventional sequencing failed to detect a causative mutation, MLPA analysis revealed a deletion within the GLA gene locus, which we were able to map to a region spanning exon 2 and adjacent intronic parts. The analysis of different biomarkers revealed elevated lyso-Gb3 levels in all affected family members. Conclusion Our findings highlight the broad intrafamilial spectrum of symptoms of FD and emphasise the need to use MLPA screening in symptomatic females without conclusive sequencing result. Finally, plasma lyso-Gb3 proved to be a reliable biomarker for the diagnosis of FD. PMID:26019814

  5. [65-year old female patient with persistent hypercalcemia].

    PubMed

    Wiedmann, M; Kassahun, W; Deckert, F; Tröltzsch, M; Sturmvoll, M; Führer, D

    2007-12-01

    A 65-year old patient presented with newly diagnosed hypercalcemia and elevated parathyroid hormone levels. Exploration of parathyroid glands was performed under the diagnosis of primary hyperparathyroidism and was combined with thyreoidectomy due to concomittant multinodular goiter. However, no parathyroid adenoma was identified despite careful exploration. Therefore, the operation was terminated and an ectopic adenoma was suspected. A (99m)Tc-sestamibi scintigraphy with SPECT, neck ultrasound, neck CT scan with contrast media and selective venous sampling were performed for further localization of the adenoma. A single adenoma localized in the submandibular area of the left jaw was suspected and confirmed during surgical reexploration. Postoperatively, parathyroid hormone levels were below detection level and the patient required short-term calcium supplementation for symptomatic hypocalcemia. PMID:17965847

  6. [Procedures for fertility preservation in female cancer patients].

    PubMed

    Langmár, Zoltán; Mátrai, Máté; Bánhidy, Ferenc; Csömör, Sándor

    2007-11-25

    Improving survival rates and quality of life following modern combined cancer treatments have resulted a growing number of patients requesting maintenance of reproductive functions. Several methods are currently available to maintain fertility during oncotherapy. Even though most of them are still experimental and their efficacy and safety have not been determined, the future for fertility preservation in women with cancer is promising. In vitro fertilization with embryo cryopreservation offers an established method, but time to delay cancer treatment could be risky regarding the progression of several cancer types. Moreover, exposure to a high oestrogen milieu during ovarian stimulation is undesirable when patients have estrogen-sensitive malignant tumours. Cryopreservation of mature oocytes following in vitro fertilization and intracytoplasmatic sperm injection offers advantages, but it is still limited due to its low success rate. Emerging techniques of ovarian tissue cryopreservation followed by autotransplantation have been clinically explored. Novel technologies of tissue freezing and thawing promise improving results. However, only one live birth following autotransplanted frozen-thawed ovarian tissue has been established. This procedure can be offered in the future for prepubertal girls before cancer treatment to maintain future fertility. Gonadal tissue cryopreservation and transplantation should be considered experimental in humans for the present time until greater evidence regarding efficacy and safety is accrued. PMID:18003580

  7. Female Genital Dialogues: Female Genital Self-Image, Sexual Dysfunction, and Quality of Life in Patients With Vitiligo With and Without Genital Affection.

    PubMed

    Sarhan, Deena; Mohammed, Ghada F A; Gomaa, Amal H A; Eyada, Moustafa M K

    2016-01-01

    Vitiligo has a major effect on sexual health because of the disfiguring skin lesions affecting self-image and self-esteem. However, this topic has not explored. This article aimed to assess the effect of vitiligo on genital self-image, sexual function, and quality of life in female patients. This cross-sectional study included 50 sexually active women with vitiligo and 25 women without vitiligo. All participants subjected to full history taking and examination. Extent of vitiligo was assessed with the Vitiligo Area Scoring Index score, sexual function with the Female Sexual Function Index, genital self-image with Female Genital Self-Image Score and quality of life with the Dermatology Life Quality Index questionnaires. The main outcome measures were correlation between Vitiligo Area Scoring Index, Female Genital Self-Image Score, Female Sexual Function Index, and Dermatology Life Quality Index domains was determined using t test and Pearson correlation. This study revealed a negative correlation between the Vitiligo Area Scoring Index score and sexual satisfaction. Vitiligo Area Scoring Index and Dermatology Life Quality Index score was significantly correlated with Arabic Version of the Female Genital Self-Image Score alone and with Arabic Version of the Female Sexual Functioning Index alone and with both the Arabic Version of the Female Genital Self-Image Score and the Arabic Version of the Female Sexual Functioning Index (p <.05). Sexual and psychological assessment of patients with vitiligo is imperative to improve outcomes and increase patients' compliance with treatment. PMID:25650731

  8. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

    PubMed

    Fieremans, Nathalie; Van Esch, Hilde; Holvoet, Maureen; Van Goethem, Gert; Devriendt, Koenraad; Rosello, Monica; Mayo, Sonia; Martinez, Francisco; Jhangiani, Shalini; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Vermeesch, Joris R; Marynen, Peter; Froyen, Guy

    2016-08-01

    Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X-linked ID (XLID) studies focused on males because of the hemizygous state of their X chromosome. Carrier females are generally unaffected because of the presence of a second normal allele, or inactivation of the mutant X chromosome in most of their cells (skewing). However, in female ID patients, we hypothesized that the presence of skewing of X-inactivation would be an indicator for an X chromosomal ID cause. We analyzed the X-inactivation patterns of 288 females with ID, and found that 22 (7.6%) had extreme skewing (>90%), which is significantly higher than observed in the general population (3.6%; P = 0.029). Whole-exome sequencing of 19 females with extreme skewing revealed causal variants in six females in the XLID genes DDX3X, NHS, WDR45, MECP2, and SMC1A. Interestingly, variants in genes escaping X-inactivation presumably cause both XLID and skewing of X-inactivation in three of these patients. Moreover, variants likely accounting for skewing only were detected in MED12, HDAC8, and TAF9B. All tested candidate causative variants were de novo events. Hence, extreme skewing is a good indicator for the presence of X-linked variants in female patients. PMID:27159028

  9. Fertility preservation in female cancer patients: An overview.

    PubMed

    Mahajan, Nalini

    2015-01-01

    Fertility preservation is becoming increasingly important to improve the quality of life in cancer survivors. Despite guidelines suggesting that discussion of fertility preservation should be done prior to starting cancer therapies, there is a lack of implementation in this area. A number of techniques are available for fertility preservation, and they can be used individually or together in the same patient to maximize efficiency. Oocyte and embryo cryopreservation are now established techniques but have their limitations. Ovarian tissue cryopreservation though considered experimental at present, has a wider clinical application and the advantage of keeping the fertility window open for a longer time. Both chemotherapy and radiotherapy have a major impact on reproductive potential and fertility preservation procedures should be carried out prior to these treatments. The need for fertility preservation has to be weighed against morbidity and mortality associated with cancer. There is thus a need for a multidisciplinary collaboration between oncologists and reproductive specialists to improve awareness and availability. PMID:25838742

  10. Fertility preservation in female cancer patients: An overview

    PubMed Central

    Mahajan, Nalini

    2015-01-01

    Fertility preservation is becoming increasingly important to improve the quality of life in cancer survivors. Despite guidelines suggesting that discussion of fertility preservation should be done prior to starting cancer therapies, there is a lack of implementation in this area. A number of techniques are available for fertility preservation, and they can be used individually or together in the same patient to maximize efficiency. Oocyte and embryo cryopreservation are now established techniques but have their limitations. Ovarian tissue cryopreservation though considered experimental at present, has a wider clinical application and the advantage of keeping the fertility window open for a longer time. Both chemotherapy and radiotherapy have a major impact on reproductive potential and fertility preservation procedures should be carried out prior to these treatments. The need for fertility preservation has to be weighed against morbidity and mortality associated with cancer. There is thus a need for a multidisciplinary collaboration between oncologists and reproductive specialists to improve awareness and availability. PMID:25838742

  11. Dietary Intake In Adult Female Coeliac Disease Patients In Slovenia

    PubMed Central

    Mičetić-Turk, Dušanka

    2016-01-01

    Abstract Objectives The aim of the study was to assess dietary intake of coeliac disease (CD) patients and to determine if they are meeting the dietary reference values for a balanced diet. Subjects/Methods 40 women with CD, aged from 23 to 76 participated in our study. Total daily intake was assessed by a three-day food diary. Resting metabolic rate (RMR) was calculated using Harris-Benedict equation. Considering physical activity level (PAL) 1.4, the recommended total energy expenditure (TEE) value was determined. The data was evaluated with professional evaluation software Prodi and statistically analysed. Results 40 participants returned the food diary. The average energy intake was significantly too low to ensure the meeting of all-day energy needs (p<0.05). The meals contained a recommended proportion of protein, but a statistically significantly higher proportion of fat (p<0.05), lower proportion of carbohydrates and a significantly lower intake of dietary fibre (p<0.05). Regarding macro-, micro- elements and vitamins, there was a significant lack in the intake of calcium and iodine, folic acid, vitamin D and vitamin A (p<0.05), meanwhile iron intake was at the lower limit of the recommended intake, whereas zinc, potassium and vitamin K intake were significantly higher according to the recommended values, but were comparable with the intake of the general population in the Central European area. Conclusion Even in subjects with adequate or low daily energy intake, their meals contained too much fat, too few carbohydrates and dietary fibre as well as inorganic substances. The patients with CD should get regular nutritional monitoring and education on the quality and balance of a gluten-free diet. PMID:27284377

  12. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.

    PubMed

    Tajima, Youichi; Kawashima, Ikuo; Tsukimura, Takahiro; Sugawara, Kanako; Kuroda, Mayuko; Suzuki, Toshihiro; Togawa, Tadayasu; Chiba, Yasunori; Jigami, Yoshifumi; Ohno, Kazuki; Fukushige, Tomoko; Kanekura, Takuro; Itoh, Kohji; Ohashi, Toya; Sakuraba, Hitoshi

    2009-11-01

    A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. It retained the original NAGA's stability in plasma and N-glycans containing many mannose 6-phosphate (M6P) residues, which are advantageous for uptake by cells via M6P receptors. There was no immunological cross-reactivity between the modified NAGA and GLA, and the modified NAGA did not react to serum from a patient with Fabry disease recurrently treated with a recombinant GLA. The enzyme cleaved globotriaosylceramide (Gb3) accumulated in cultured fibroblasts from a patient with Fabry disease. Furthermore, like recombinant GLA proteins presently used for enzyme replacement therapy (ERT) for Fabry disease, the enzyme intravenously injected into Fabry model mice prevented Gb3 storage in the liver, kidneys, and heart and improved the pathological changes in these organs. Because this modified NAGA is hardly expected to cause an allergic reaction in Fabry disease patients, it is highly promising as a new and safe enzyme for ERT for Fabry disease. PMID:19853240

  13. Fibrosis: a key feature of Fabry disease with potential therapeutic implications

    PubMed Central

    2013-01-01

    Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the microvasculature. However, despite ready clearance of endothelial deposits, ERT is less effective in patients who have already developed fibrosis. Several potential explanations of this clinical observation may impact on the future management of Fabry disease. Alternative molecular pathways linking glycosphingolipids and fibrosis may be operative; tissue injury may recruit secondary molecular mediators of fibrosis that are unresponsive to ERT, or fibrosis may represent irreversible tissue injury that limits the therapeutic response to ERT. We provide an overview of Fabry disease, with a focus on the assessment of fibrosis, the clinical consequences of fibrosis, and recent advances in understanding the cellular and molecular mechanisms of fibrosis that may suggest novel therapeutic approaches to Fabry disease. PMID:23915644

  14. Strained layer Fabry-Perot device

    DOEpatents

    Brennan, Thomas M.; Fritz, Ian J.; Hammons, Burrell E.

    1994-01-01

    An asymmetric Fabry-Perot reflectance modulator (AFPM) consists of an active region between top and bottom mirrors, the bottom mirror being affixed to a substrate by a buffer layer. The active region comprises a strained-layer region having a bandgap and thickness chosen for resonance at the Fabry-Perot frequency. The mirrors are lattice matched to the active region, and the buffer layer is lattice matched to the mirror at the interface. The device operates at wavelengths of commercially available semiconductor lasers.

  15. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease

    PubMed Central

    Costa, Rui M.; Martul, Eduardo V.; Reboredo, Juan M.; Cigarrán, Secundino

    2013-01-01

    Inherited and acquired metabolic disorders are responsible for renal intracellular accumulation of phospholipids. Ultrastructural analysis revealing typical myeloid or zebra bodies was previously thought to be exclusive to Fabry disease. However, chloroquine/hydroxychloroquine toxicity can cause similar abnormalities. Recent studies have mentioned curvilinear bodies (CLB) in renal cells in such cases, never described in Fabry nephropathy. We report a 31-year-old patient with systemic lupus erythematosus who was on long-term hydroxychloroquine treatment. The presence of zebra bodies on electron microscopy lead to initial interpretation of Fabry disease, but subsequent genetic analysis did not show a relevant mutation. Further evaluation revealed CLB in renal cells, supporting the diagnosis of hydroxycholoroquine-induced renal phospholipidosis. PMID:26120446

  16. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease.

    PubMed

    Trimarchi, H; Canzonieri, R; Muryan, A; Schiel, A; Araoz, A; Forrester, M; Karl, A; Lombi, F; Andrews, J; Pomeranz, V; Rengel, T; Zotta, E

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  17. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease

    PubMed Central

    Trimarchi, H.; Canzonieri, R.; Muryan, A.; Schiel, A.; Forrester, M.; Karl, A.; Lombi, F.; Andrews, J.; Pomeranz, V.; Rengel, T.; Zotta, E.

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  18. Atrial Fibrillation is Associated With Morphine Treatment in Female Breast Cancer Patients

    PubMed Central

    Lee, Cynthia Wei-Sheng; Muo, Chih-Hsin; Liang, Ji-An; Lin, Ming-Chia; Kao, Chia-Hung

    2016-01-01

    Abstract We investigated the relationship between morphine treatment and the risk of atrial fibrillation (AF) in female patients with breast cancer. We identified a malignancy cohort of 73,917 female breast cancer patients without an AF history before the date of breast cancer diagnosis between 2000 and 2010 by using the Longitudinal Health Insurance Database for Catastrophic Illness Patients in Taiwan. This malignancy cohort was divided into morphine and comparison cohorts comprising 18,671 and 55,246 patients, respectively, and the incidences of newly diagnosed AF were calculated. We used the Cox proportional hazard model with time-dependent exposure covariates to estimate the risk of AF. The effect of morphine was assessed through multivariable Cox proportional hazard regression controlling for age, the Charlson comorbidity index (CCI) score, and the use of bisphosphonates and paclitaxel. Compared with nonmorphine users, patients who received morphine exhibited a 4.37-fold (95% CI = 3.56–5.36) increase in the risk of developing AF. The risk of AF increased as the CCI score increased, but decreased in patients with tamoxifen treatment. This risk is especially significant in current morphine users of all ages and with low CCI score. AF risk increased as the duration of morphine use lengthened (P for trend <0.0001). The incidence of AF in female breast cancer patients in Taiwan is associated with morphine, but prevented by tamoxifen treatment. PMID:26986153

  19. Skin-impedance in Fabry Disease: A prospective, controlled, non-randomized clinical study

    PubMed Central

    Gupta, Surya N; Ries, Markus; Murray, Gary J; Quirk, Jane M; Brady, Roscoe O; Lidicker, Jeffrey R; Schiffmann, Raphael; Moore, David F

    2008-01-01

    Background We previously demonstrated improved sweating after enzyme replacement therapy (ERT) in Fabry disease using the thermo-regularity sweat and quantitative sudomotor axon reflex tests. Skin-impedance, a measure skin-moisture (sweating), has been used in the clinical evaluation of burns and pressure ulcers using the portable dynamic dermal impedance monitor (DDIM) system. Methods We compared skin impedance measurements in hemizygous patients with Fabry disease (22 post 3-years of bi-weekly ERT and 5 ERT naive) and 22 healthy controls. Force compensated skin-moisture values were used for statistical analysis. Outcome measures included 1) moisture reading of the 100th repetitive reading, 2) rate of change, 3) average of 60–110th reading and 4) overall average of all readings. Results All outcome measures showed a significant difference in skin-moisture between Fabry patients and control subjects (p < 0.0001). There was no difference between Fabry patients on ERT and patients naïve to ERT. Increased skin-impedance values for the four skin-impedance outcome measures were found in a small number of dermatome test-sites two days post-enzyme infusions. Conclusion The instrument portability, ease of its use, a relatively short time required for the assessment, and the fact that DDIM system was able to detect the difference in skin-moisture renders the instrument a useful clinical tool. PMID:18990229

  20. Female Patient and Physician Communication and Discussion of Gynecological Health Care Issues.

    ERIC Educational Resources Information Center

    Wheeless, Virginia Eman

    1987-01-01

    Indicates that a female patient's trust in, receptivity to, and communication apprehension regarding her physician constitute significant predictors of her (1) likelihood of discussing health care issues, (2) knowledge of gynecological health needs, and (3) feelings toward the gynecologist during examination. Finds that the physician's gender does…

  1. Sexual dysfunction, mood, anxiety, and personality disorders in female patients with fibromyalgia

    PubMed Central

    Kayhan, Fatih; Küçük, Adem; Satan, Yılmaz; İlgün, Erdem; Arslan, Şevket; İlik, Faik

    2016-01-01

    Background We aimed to investigate the current prevalence of sexual dysfunction (SD), mood, anxiety, and personality disorders in female patients with fibromyalgia (FM). Methods This case–control study involved 96 patients with FM and 94 healthy women. The SD diagnosis was based on a psychiatric interview in accordance with the Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria. Mood and anxiety disorders were diagnosed using the Structured Clinical Interview. Personality disorders were diagnosed according to the Structured Clinical Interview for DSM, Revised Third Edition Personality Disorders. Results Fifty of the 96 patients (52.1%) suffered from SD. The most common SD was lack of sexual desire (n=36, 37.5%) and arousal disorder (n=10, 10.4%). Of the 96 patients, 45 (46.9%) had a mood or anxiety disorder and 13 (13.5%) had a personality disorder. The most common mood, anxiety, and personality disorders were major depression (26%), generalized anxiety disorder (8.3%), and histrionic personality disorder (10.4%). Conclusion SD, mood, and anxiety disorders are frequently observed in female patients with FM. Pain plays a greater role in the development of SD in female patients with FM. PMID:26937190

  2. Cosmetic selection of skin incision for resection of choledochal cyst in young female patients

    PubMed Central

    Choi, Jong-Woo; Ha, Tae-Yong; Song, Gi-Won; Jung, Dong-Hwan

    2016-01-01

    Backgrounds/Aims Open surgery for choledochal cyst has a disadvantage of skin incision scar from operative wound, which can be a definite disadvantage especially in young female patients. This study focused on the cosmetic aspect of skin incision for resection of choledochal cyst in young female patients. Methods During a 2-year study period, 11 adult female patients aged less than 40 years underwent primary resection of choledochal cyst by a single surgeon. The cosmetic effect of two types of skin incision was evaluated. Results The patients underwent mini-laparotomy through either a right subcostal incision (n=8) or an upper midline incision (n=3). The mean length of skin incision was 10 cm for right subcostal incisions and 9 cm for upper midline incisions. It took approximately 1 hour to repair the operative wound meticulously in both groups. At the 6 month to 1 year follow-up, a slight bulge on the skin scar was observed in 3 (37.5%) patients of the right subcostal incision group and 1 (33.3%) patient of the upper midline incision group. Conclusions The results of this preliminary study support the claim that cosmetic effect of the upper midline incision for CCD surgery appears to be non-inferior to that of the right subcostal incision if the incision is placed accurately and repaired very meticulously. PMID:27621750

  3. Effectiveness of an intervention promoting the female condom to patients at sexually transmitted disease clinics.

    PubMed Central

    Artz, L; Macaluso, M; Brill, I; Kelaghan, J; Austin, H; Fleenor, M; Robey, L; Hook, E W

    2000-01-01

    OBJECTIVES: This study evaluated a behavioral intervention designed to promote female condoms and reduce unprotected sex among women at high risk for acquiring sexually transmitted diseases (STDs). METHODS: The effect of the intervention on barrier use was evaluated with a pretest-posttest design with 1159 female STD clinic patients. RESULTS: Among participants with follow-up data, 79% used the female condom at least once and often multiple times. More than one third of those who completed the study used female condoms throughout follow-up. Use of barrier protection increased significantly after the intervention, and high use was maintained during a 6-month follow-up. To account for attrition, the use of protection by all subjects was projected under 3 conservative assumptions. The initial visit and termination visit projections suggest that use increased sharply after the intervention and declined during follow-up but remained elevated compared with the baseline. CONCLUSIONS: Many clients of public STD clinics will try, and some will continue, to use female condoms when they are promoted positively and when women are trained to use them correctly and to promote them to their partners. A behavioral intervention that promotes both female and male condoms can increase barrier use. PMID:10667185

  4. Risk of abnormal triple screen for Down syndrome is significantly higher in patients with female fetuses.

    PubMed

    Spong, C Y; Ghidini, A; Stanley-Christian, H; Meck, J M; Seydel, F D; Pezzullo, J C

    1999-04-01

    Previous studies have shown that mid-trimester maternal serum alpha-fetoprotein (AFP) levels are significantly higher and human chorionic gonadotrophin (hCG) levels significantly lower in women with male compared with female fetuses. We have evaluated whether triple-screen criteria are more likely to identify women with female fetuses as at risk for Down syndrome. From the Georgetown University genetics database we obtained the absolute values and corresponding multiples of the median (MoM) for AFP, hCG and unconjugated oestriol (uE3) in singleton gestations for the period database November 1992 July 1996. A Down syndrome risk of 1/270 or greater at mid-trimester was considered as high risk. A total of 977 patients with triple screen and outcome information were identified, including 502 female and 475 male fetuses. Patients with female fetuses were significantly more likely to have lower serum AFP (p=0.003) and a positive triple screen for Down syndrome (72 (14 per cent) versus 45 (9 per cent), p<0.02) than those with male fetuses. The gestational age at triple screen, maternal serum hCG and uE3, race and diabetes were not significantly different between the two groups. Since Down syndrome is less common in female than male fetuses, and the rates of female and male Down syndrome fetuses detected by triple screen and subsequent amniocentesis are not significantly different, the excess of positive mid-trimester maternal serum triple screen in women with female fetuses is likely due to false-positive results. PMID:10327139

  5. Factors associated with bone metabolism in acromegalic patients: hypogonadism and female gender.

    PubMed

    Tütüncü, N B; Erbaş, T

    2004-06-01

    The purpose of the study was to determine the factors associated with bone metabolism in acromegalic patients. Thirty three patients with acromegaly who had been followed on a regular basis in the endocrinology clinic were enrolled for the study. Among the factors acting upon bone metabolism, age, gender, body mass index (BMI), duration and activity of the disease, length of remission, treatment modalities and functional status of the pituitary were evaluated. Their influences on the determinants of bone remodelling and bone mineral density (BMD) were tried to be elucidated. The median age of the 33 acromegalics (19 females, 14 males) was 39.73 +/- 10.1 years. Twenty-three patients (9 males and 14 females) were eugonadal. Ten patients had been diagnosed with history of at least one year of untreated hypogonadism (5 males and 5 females; for 1 - 10 years). The BMD values of the lumbar vertebrae, the femur and the radius were correlated with each other. Patients were grouped according to their T-scores as decreased, normal, and increased BMD. Groups were similar with regard to age, BMI, gender, duration of disease, and remission, GH, IGF-1, IGFBP-3 levels, markers of bone turnover. Presence of hypogonadism and duration of hypogonadism revealed statistically significant difference among the 3 groups (p = 0.005 and p = 0.035, respectively). Hypogonadal acromegalic patients had decreased BMD compared to eugonadal acromegalics and healthy population while the eugonadal female acromegalic patients revealed increased BMD of lumbar vertebrae, femur, and distal radius compared to the sex-matched healthy population. PMID:15216451

  6. Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.

    PubMed

    Jiang, Jian-Fa; Xue, Wei; Deng, Yan; Tian, Qin-Jie; Sun, Ai-Jun

    2016-04-01

    The objective of this study was to examine risks for gonadal malignancy in a large sample of adult female patients with disorders of sex development (DSD). A retrospective-observational study was conducted from July 1992 to March 2015 and 202 women with DSD were enrolled. Tumor risks for different types of DSD were measured. We found that the patients' total gonadal-malignancy risk was 18.3% (37/202). Tumors included gonadoblastoma (n = 11), seminoma (n = 8), dysgerminoma (n = 5), choriocarcinoma (n = 1), sertoli cell tumors (n = 11), and leydig cell tumors (n = 1). The incidence of gonadal malignancy in patients with complete androgen insensitivity syndrome (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY mixed gonadal dysgenesis, 17α-hydroxylase/17, 20-lyase deficiency and partial androgen insensitivity syndrome (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively. Our results suggest that the incidence of gonadal malignancy increases with age for female patients with Y-chromosome material. Upon diagnoses, immediate, prophylactic gonadectomies should be considered for adult female patients with DSD containing Y chromosome material if they cannot receive regular follow-ups. PMID:26608236

  7. [Symptom portrayal and initial therapeutic relationship of female and male patients in the initial psychoanalytic interview].

    PubMed

    Grande, T; Wilke, S; Nübling, R

    1992-01-01

    The transcripts of psychoanalytic initial interviews are analyzed in using the "Structural Analysis of Social Behavior" (SASB) by L. S. Benjamin. This instrument was chosen to detect how male and female patients talk about their symptoms, and about previous treatments. The immediate interaction with the interviewer during the dialogue was also described by using SASB. On the basis of only the first patients' utterances after the initial request of the therapists (like "What brings you here?") we can distinguish female and male patients by the quality of the relations described (to the symptoms, the previous physicians, and to the therapist). The sex-specific readiness to establish relationships which becomes apparent in these descriptions can be related to the interview situation itself. In our further argumentation we interpret them as subtle messages to the interviewer. Finally we discuss their inherent potentials and risks for the psychotherapeutic cooperation. PMID:1561845

  8. Capsaicin cough sensitivity is related to the older female predominant feature in chronic cough patients

    PubMed Central

    Song, Woo-Jung; Kim, Ju-Young; Jo, Eun-Jung; Lee, Seung-Eun; Kim, Min-Hye; Yang, Min-Suk; Kang, Hye-Ryun; Park, Heung-Woo; Chang, Yoon-Seok; Min, Kyung-Up

    2014-01-01

    Purpose The present study aimed to examine the age and gender distributions among chronic cough patients referred to a tertiary cough clinic in Korea, and to investigate clinical factors related to the demographic findings. Methods Study participants were unselectively recruited from adult chronic cough patients who attended the cough clinic for the first time during one year. To validate their representativeness, their age and gender distributions were compared to the entire chronic cough population, or with those presenting with other chronic disease. Data from the baseline investigations were analyzed to identify clinical factors related to the demographic findings. Results A total of 272 chronic cough patients were included. They had a middle-aged female predominant feature (mean age: 52.8±15.7 years and female 69.1%). Their age and gender distributions were almost identical to the entire chronic cough population, but were distinct from patients with hypertension. Among clinical factors, the older female predominance was associated with enhanced capsaicin cough sensitivity, and also with the presence of 'cough by cold air' symptom. Allotussia and laryngeal paresthesia were highly common in chronic cough patients, affecting 94.8% and 86.8% of them, respectively. Conclusions The present study demonstrated older female predominance among adult chronic cough patients attending a referral cough clinic in Korea. The demographic features were significantly associated with the capsaicin cough responses and also potentially with allotussia (particularly cold air as the trigger). These findings suggest a role of cough reflex sensitization in the pathophysiology of chronic cough in adults. PMID:25228996

  9. Intranasal Oxytocin Administration Dampens Amygdala Reactivity towards Emotional Faces in Male and Female PTSD Patients.

    PubMed

    Koch, Saskia Bj; van Zuiden, Mirjam; Nawijn, Laura; Frijling, Jessie L; Veltman, Dick J; Olff, Miranda

    2016-05-01

    Post-traumatic stress disorder (PTSD) is a disabling psychiatric disorder. As a substantial part of PTSD patients responds poorly to currently available psychotherapies, pharmacological interventions boosting treatment response are needed. Because of its anxiolytic and pro-social properties, the neuropeptide oxytocin (OT) has been proposed as promising strategy for treatment augmentation in PTSD. As a first step to investigate the therapeutic potential of OT in PTSD, we conducted a double-blind, placebo-controlled, cross-over functional MRI study examining OT administration effects (40 IU) on amygdala reactivity toward emotional faces in unmedicated male and female police officers with (n=37, 21 males) and without (n=40, 20 males) PTSD. Trauma-exposed controls were matched to PTSD patients based on age, sex, years of service and educational level. Under placebo, the expected valence-dependent amygdala reactivity (ie, greater activity toward fearful-angry faces compared with happy-neutral faces) was absent in PTSD patients. OT administration dampened amygdala reactivity toward all emotional faces in male and female PTSD patients, but enhanced amygdala reactivity in healthy male and female trauma-exposed controls, independent of sex and stimulus valence. In PTSD patients, greater anxiety prior to scanning and amygdala reactivity during the placebo session were associated with greater reduction of amygdala reactivity after OT administration. Taken together, our results indicate presumably beneficial neurobiological effects of OT administration in male and female PTSD patients. Future studies should investigate OT administration in clinical settings to fully appreciate its therapeutic potential. PMID:26404844

  10. Oral Spironolactone in Post-teenage Female Patients with Acne Vulgaris

    PubMed Central

    Kim, Grace K.

    2012-01-01

    Oral spironolactone has been used for over two decades in the dermatological setting. Although it is not generally considered a primary option in the management of female patients with acne vulgaris, the increase in office visits by post-teenage women with acne vulgaris has recently placed a spotlight on the use of this agent in this subgroup of patients. This article reviews the literature focusing on the use of oral spironolactone in this subset of women with acne vulgaris, including discussions of the recommended starting dose, expected response time, adjustments in therapy, potential adverse effects, and patient monitoring. PMID:22468178

  11. A Case of Behcet’s Disease Combined with Pulmonary Artery Aneurysm in a Korean Female Patient

    PubMed Central

    Uh, Sootaek; Kim, Jin Oh; You, Yong Kyu; Moon, Seung Hyug; Park, Choon Sik

    1994-01-01

    Behcet’s disease (BD) is a systemic disorder of unknown process resulting from systemic vasculitis. The pulmonary involvements in BD are uncommon. Furthermore, in the female, involvement of the pulmonary artery is quite rare. There were a few cases of female patients with BD with pulmonary artery aneurysm confirmed by pulmonary artery angiogram. In this article, we report a case of BD, combined with pulmonary artery aneurysm, confirmed by pulmonary angiogram and treated by surgery in a Korean female patient. PMID:8038147

  12. p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

    PubMed Central

    Ozelsancak, Ruya; Uyar, Bulent

    2016-01-01

    Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: Acropareshesia • fatique Medication: — Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare disease Background: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme α-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. Case Report: We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband’s mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Conclusions: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease. PMID:27156739

  13. Quality of Life and Migraine Disability among Female Migraine Patients in a Tertiary Hospital in Malaysia

    PubMed Central

    Shaik, Munvar Miya; Hassan, Norul Badriah; Gan, Siew Hua

    2015-01-01

    Background. Disability caused by migraine may be one of the main causes of burden contributing to poor quality of life (QOL) among migraine patients. Thus, this study aimed to measure QOL among migraine sufferers in comparison with healthy controls. Methods. Female diagnosed migraine patients (n= 100) and healthy controls (n=100) completed the Malay version of the World Health Organization QOL Brief (WHOQOL-BREF) questionnaire. Only migraine patients completed the Malay version of the Migraine Disability Assessment questionnaire. Results. Females with migraines had significantly lower total WHOQOL-BREF scores (84.3) than did healthy controls (91.9, P<0.001). Similarly, physical health (23.4 versus 27.7, P<0.001) and psychological health scores (21.7 versus 23.2, P< 0.001) were significantly lower than those for healthy controls. Seventy-three percent of patients experienced severe disability, with significantly higher number of days with headaches (13.8 days/3 months, P< 0.001) and pain scores (7.4, P< 0.013). Furthermore, migraine patients with lower total QOL scores had 1.2 times higher odds of having disability than patients with higher total QOL scores. Conclusions. The present study showed that migraine sufferers experienced significantly lower QOL than the control group from a similar population. Disability was severe and frequent and was associated with lower QOL among the migraine patients. PMID:25632394

  14. Sexual harassment of female physicians by patients. What is to be done?

    PubMed Central

    Phillips, S.

    1996-01-01

    OBJECTIVE: To determine the responses of female physicians who have been sexually harassed by patients, as a means of answering the question, "What is to be done?" DESIGN: As part of a larger study on the topic, randomly selected participants were mailed a questionnaire requesting information about the nature and extent of sexual harassment by patients and about resulting feelings, actions, and suggestions for prevention. SETTING: Family practices in Ontario. PARTICIPANTS: A random sample of the 1064 female certificants of the College of Family Physicians of Canada in active practice in Ontario during 1992 was selected. A total of 599 were surveyed; 422 (70%) replied. MAIN OUTCOME MEASURES: Responses to survey questions. RESULTS: Of the 422 respondents, 76% reported sexual harassment by patients and their reactions to it. Though most respondents had many suggestions about how to minimize harassment, written comments suggested confusion as to its cause. Many participants wondered whether their behaviour, manner, or dress provoked unwanted responses. The ability to root the cause of the harassment externally as a social rather than a personal problem seemed to decrease immobilization. CONCLUSIONS: There is no single effective response to sexual harassment, but understanding its source as an abuse of the power of gender* (perhaps to overcome the powerlessness felt as a patient) could enable female physicians to act in protective and effective ways. PMID:8924816

  15. Exercise increases serum endostatin levels in female and male patients with diabetes and controls

    PubMed Central

    2014-01-01

    Background Type 2 diabetes mellitus (T2DM) is often associated with atherosclerotic changes in coronary vessels, most notably plaques. The angiostatic parameter endostatin is able to inhibit angiogenesis in tissue as well as in plaques and therefore plays an important role in physiological and pathological neovascularisation. The aim of the present study was to investigate sex-specific differences and the influence of exercise on circulating endostatin levels in patients suffering from diabetes, and control subjects. Methods In total, 42 T2DM-patients and 45 control subjects were investigated. They underwent a graded physical stress test (ergometry). Serum endostatin levels were measured in venous blood at rest and directly after reaching maximum workload. Results Females showed significantly higher endostatin levels at baseline measurements compared to men, independently of their underlying disease. In both female and male T2DM-patients endostatin levels were significantly lower compared to controls. Both groups and sexes showed a significant increase of endostatin after physical stress, whereas the extent of endostatin-increase was between 10.59-15.05%. Conclusion Middle-aged healthy female individuals as well as female T2DM-patients showed higher circulating serum endostatin levels compared to males, suggesting a hormonal influence on baseline circulating endostatin amounts. Exercise-induced increase in endostatin is also observable in patients suffering from T2DM. Concerning vascularisation, lower endostatin levels in T2DM might be advantageous. Concerning plaque stability, lower levels might be prejudicial. Trial registration Clinical Trial Registration-URL: http://clinicaltrials.gov/ct2/results?term=NCT01165515 PMID:24393402

  16. FISH analysis of a subtle familial Xp deletion in a female patient with Madelung deformity

    SciTech Connect

    Hsu, T.Y.; Gibson, L.H.; Pober, B.R.

    1994-09-01

    A subtle deletion of Xp [del(X)(p22.32)]was identified by high-resolution chromosome analysis in a twelve-year-old female with short stature (<2 percentile) and Madelung deformity suggestive of Turner syndrome. The proband`s mother, who has short stature (<2 percentile) and demyelinating disorder, also showed this deletion. The maternal grandmother is of normal height and carries two normal X chromosomes. Both the patient and her mother have no other physical abnormalities and are of normal intelligence. To confirm and delineate this Xp deletion, fluorescence in situ hybridization (FISH) was performed on metaphases from the patient and her mother using probes of DXYS20 (a pseudoautosomal locus), DXS232A, and a newly isolated Xp YAC clone, YHX2, whose relative map position is unknown. Hybridization signals of DXS232A were detected on both X chromosomes, and DXYS20 and YHX2 were missing from one of the X`s of both the patient and her mother. YHX2 was thus placed distal to DXS232A (tel-DXYS20-YHX2-S232A-cen). This familial deletion with a breakpoint distal to DXS232A, which is located at -900 Kb telomeric to STS locus, appears to be the smallest Xp deletion reported thus far. Short stature is consistently associated with females carrying Xp deletions. Madelung deformity has been found in some patients with Turner syndrome or Dyschondrosteosis but it has not been reported in patients with Xp deletion. Our results suggest that the phenotype of our patient is associated with her chromosome abnormality. Due to the subtlety of the deletion identified in our patient and her mother, females presenting with short stature warrant careful clinical and cytogenetic evaluation.

  17. Mitochondrial DNA haplogroups may influence Fabry disease phenotype.

    PubMed

    Simoncini, C; Chico, L; Concolino, D; Sestito, S; Fancellu, L; Boadu, W; Sechi, G P; Feliciani, C; Gnarra, M; Zampetti, A; Salviati, A; Scarpelli, M; Orsucci, D; Bonuccelli, U; Siciliano, G; Mancuso, M

    2016-08-26

    While the genetic origin of Fabry disease (FD) is well known, it is still unclear why the disease presents a wide heterogeneity of clinical presentation and progression, even within the same family. Emerging observations reveal that mitochondrial impairment and oxidative stress may be implicated in the pathogenesis of FD. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of FD, we have genotyped European mtDNA haplogroups in 77 Italian FD patients and 151 healthy controls. Haplogroups H and I, and haplogroup cluster HV were significantly more frequent in patients than controls. However, no correlation with gender, age of onset, organ involvement was observed. Our study seems to provide some evidence of a contribution of mitochondrial variation in FD pathogenesis, at least in Italy. PMID:27365132

  18. HAE update: special considerations in the female patient with hereditary angioedema.

    PubMed

    Geng, Bob; Riedl, Marc A

    2013-01-01

    This review on hereditary angioedema (HAE) focuses on special topics regarding HAE in female patients. HAE is a bradykinin-mediated disorder, and the role of hormonal regulation of disease expression will be discussed focusing on the effect of estrogen on disease mechanism. The impact of exogenous estrogen on symptom exacerbation leads to special consideration regarding choice of contraceptives and safety of hormone replacement therapy. The effects of pregnancy and childbirth will be examined on the course of disease control. Unique considerations regarding therapeutic management for female HAE patients will be addressed, including the role of C1 inhibitor (C1-INH), ecallantide, and icatibant. Finally, this review will provide an overview of the more recently characterized HAE with normal C1-INH (HAE type III) that predominantly affects women and is in some cases associated with factor XII gene mutations. PMID:23406930

  19. Prolactin levels and autoantibodies in female patients with systemic lupus erythematosus.

    PubMed

    Kozáková, D; Rovenský, J; Cebecauer, L; Bosák, V; Jahnová, E; Vigas, M

    2000-01-01

    We investigated the relationships between prolactin (PRL) levels and antibody occurrence in systemic lupus erythematosus (SLE). No significant association between PRL levels and the majority of the autoantibodies studied (anti-U1 RNP, anti-rRNP, anti-Sm, anti-dsDNA, anti-DNP, auto-LCA, anti-EACA) could be confirmed (P > 0.05), anti-Ro/SSA antibodies being an exception. Our results showed significantly increased frequencies of these antibodies in the group of female SLE patients with normal PRL levels (< 20 micrograms/L): anti Ro/SSA in 53% (P < 0.025, chi 2 = 5.80, RR = 4.0) and anti-Ro/SSA + anti-Ro/La in 60% (P < 0.05, chi 2 = 4.05) compared with female SLE patients with hyperprolactinemia. PMID:11155810

  20. Late-onset epileptic spasms in a female patient with a CASK mutation.

    PubMed

    Nakajiri, Tomoshi; Kobayashi, Katsuhiro; Okamoto, Nobuhiko; Oka, Makio; Miya, Fuyuki; Kosaki, Kenjiro; Yoshinaga, Harumi

    2015-10-01

    We report a female patient with late-onset epileptic spasms (ESs) of a rare form, distinct from those seen in typical West syndrome, in association with a heterozygous frameshift CASK mutation (c.1896dupC (p.C633fs(∗)2)). She has a phenotype of microcephaly with pontine and cerebellar hypoplasia (MICPCH), and has had intractable ESs in clusters since 3 years 8 months of age with multifocal, particularly bifrontal, epileptic discharges in electroencephalogram. The available literature on patients with both ESs and CASK mutations has been reviewed, revealing that four of the five female children, including the present girl, had late-onset ESs, in contrast to the four males, who tended toward early-onset ESs. PMID:25765806

  1. Preoperative Factors Predicting Intraoperative Blood Loss in Female Patients With Adolescent Idiopathic Scoliosis

    PubMed Central

    Li, Chao; Yang, Mingyuan; Wang, Chao; Wang, Chuanfeng; Fan, Jianping; Chen, Ziqiang; Wei, Xianzhao; Zhang, Guoyou; Bai, Yushu; Zhu, Xiaodong; Xie, Yang; Li, Ming

    2015-01-01

    Abstract In this article, a retrospective analysis of 161 female patients with adolescent idiopathic scoliosis (AIS) is performed who underwent posterior correction and fusion using all-pedicle screw instrument. The aim of this article is to find out preoperative factors that influence intraoperative blood loss (IOBL) in female patients with AIS. The IOBL in posterior correction and fusion surgery for patients with idiopathic scoliosis greatly varies. The variables affecting the IOBL also greatly vary among different studies. Medical records of all female patients with AIS who underwent posterior correction and fusion operations using the all-pedicle screw system in our hospital from January 2012 to January 2014 were reviewed. Patients with irregular menstruation, who underwent osteotomy, and using coagulants were excluded. Preoperative clinical data, including patient age, height, weight, Risser sign, day after last menstruation, major curve Cobb angle, fulcrum-bending Cobb angle, curve flexibility index, sagittal thoracic Cobb angle, sagittal lumbar Cobb angle, albumin, hemoglobin, platelet, activated partial thromboplastic time (APTT), prothrombin time, thrombin time, fibrinogen, fusion level, menstrual phase, and blood type, were collected. Data were further analyzed using multiple linear regression with forward elimination. A total of 161 patients were included in this study. The mean IOBL was 933.98 ± 158.10 mL (500–2000 mL). Forward selection showed that fulcrum-bending Cobb angle, fusion level, Risser sign, APTT, fibrinogen, and menstrual phase were the preoperative factors that influenced the IOBL in female patients with AIS. Equation of IOBL was built by multiple linear regression: IOBL = −966.228 + 54.738 Risser sign + 18.910 fulcrum-bending Cobb angle + 114.737 fibrinogen + 21.386 APTT − 71.312 team 2 − 177.985 team 3 − 165.082 team 4 + 53.470 fusion level. R = 0.782. Operation for patients with AIS was featured by large IOBL

  2. Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

    PubMed Central

    Javed, A. P.; Shenai, Prashanth; Chatra, Laxmikanth; Veena, K. M.; Rao, Prasanna Kumar; Prabhu, Rachana

    2013-01-01

    Epidermolysis bullosa (EB) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia. Amelogenesis imperfecta presents with abnormal formation of the enamel both in deciduous and permanent dentition. This article describes a previously unreported case of Amelogenesis imperfecta with complete loss of enamel in a young female patient with EB. PMID:24379873

  3. [Multiple smooth colon stenosis in 76-year-old female patient].

    PubMed

    Muehlenberg, K; Dietl, O; Piso, P; Pech, O

    2015-10-01

    Differential diagnostic aspects of colon stenoses are discussed using the example case of a female patient presenting with multilocular colon metastases, who had lobular breast cancer 9 years previously. Typical is linitis plastica, which can indicate tumorous infiltration not only of the stomach, but also of the large intestine. Other endoscopic imaging and histological studies may, however, fail. The pathologist requires the anamnestic data relating to the breast cancer for exact assignment of the tumorous infiltration. PMID:26349909

  4. Association of Pulmonary Cysts and Nodules in a Young Female Patient.

    PubMed

    Dias, Olívia Meira; do Nascimento, Ellen Caroline Toledo; Carvalho, Carlos Roberto Ribeiro; Araujo, Mariana Sponholz; Freitas, Carolina Salim Gonçalves; Kairalla, Ronaldo Adib; Dolhnikoff, Marisa; Baldi, Bruno Guedes

    2016-06-01

    A 27-year-old female patient was referred to our outpatient clinic with a 1-year history of shortness of breath when walking fast on level ground or when climbing stairs. Symptoms worsened after a second episode of spontaneous left pneumothorax, when a chest tube was placed in another hospital for complete lung expansion. During this hospitalization, an open lung biopsy was performed. There was no history of rhinorrhea, nasal congestion, cough, hemoptysis, wheezing, or expectoration. PMID:27287595

  5. Shielding during x-ray examination of pediatric female patients with developmental dysplasia of the hip.

    PubMed

    Tsai, Yi-Shan; Liu, Yi-Sheng; Chuang, Ming-Tsung; Wang, Chien-Kuo; Lai, Cheng-Shih; Tsai, Hong-Ming; Lin, Chii-Jeng; Lu, Chia-Hsing

    2014-12-01

    Patients with developmental dysplasia of the hip (DDH) generally undergo multiple x-ray examinations of both hip joints. During these examinations, the gonads are completely exposed to radiation, unless shielded. Although many types and sizes of gonad shields exist, they often do not provide adequate protection because of size and placement issues; additionally, these shields are frequently omitted for female patients. Our aim was to assess gonad protection during x-ray examination that is provided by gonad shields designed for individual female patients with DDH.We retrospectively retrieved data from the Picture Archiving and Communication System database; pelvic plain x-ray films from 766 females, 18 years old or younger, were included in our analysis. Based on x-ray measurements of the anterior superior iliac spine, we developed a system of gonad shield design that depended on the distance between anterior superior iliac spine markers. We custom-made shields and then examined shielding rates and shielding accuracy before and after these new shields became available. Standard (general-purpose) shields were used before our custom design project was implemented. The shielding rate and shielding accuracy were, respectively, 14.5% and 8.4% before the project was implemented and 72.7% and 32.2% after it was implemented. A shield that is more anatomically correct and available in several different sizes may increase the likelihood of gonad protection during pelvic x-ray examinations. PMID:25325378

  6. The independent effects of child sexual abuse and impulsivity on lifetime suicide attempts among female patients.

    PubMed

    Daray, Federico M; Rojas, Sasha M; Bridges, Ana J; Badour, Christal L; Grendas, Leandro; Rodante, Demián; Puppo, Soledad; Rebok, Federico

    2016-08-01

    Child sexual abuse (CSA) is a causal agent in many negative adulthood outcomes, including the risk for life-threatening behaviors such as suicide ideation and suicide attempts. Traumatic events such as CSA may pose risk in the healthy development of cognitive and emotional functioning during childhood. In fact, high impulsivity, a risk factor for suicidal behavior, is characteristic of CSA victims. The current study aims to understand the relations among CSA, impulsivity, and frequency of lifetime suicide attempts among a female patient sample admitted for suicidal behavior. Participants included 177 female patients between the ages of 18 and 63 years admitted at two hospitals in Buenos Aires, Argentina. Number of previous suicide attempts and CSA were assessed via structured interviews, while impulsivity was assessed with the Barratt Impulsiveness Scale (BIS-11). A model of structural equations was employed to evaluate the role of impulsivity in the relation between CSA and suicide attempts. CSA (β=.18, p<.05) and impulsivity (β=.24, p<.05) were associated with the number of previous suicide attempts. However, impulsivity was not significantly associated with CSA (β=.09, p>.05). CSA and impulsivity are independently associated with lifetime suicide attempts among female patients with recent suicidal behavior. PMID:27352091

  7. Laparoscopic ovarian transposition prior to pelvic irradiation in a young female patient with advanced rectal cancer.

    PubMed

    Kihara, Kyoichi; Yamamoto, Seiichiro; Ohshiro, Taihei; Fujita, Shin

    2015-12-01

    In the report, we describe the first case of laparoscopic ovarian transposition prior to pelvic radio-chemo therapy in a young female patient with advanced rectal cancer in Japan. A 14-year-old female visited a hospital because of consistent diarrhea and melena. Colonoscopy examination showed a bulky tumor of the rectum, which was diagnosed as moderately to poorly differentiated adenocarcinoma. The diagnosis was cT3N2aM1a (due to lymph node in pelvic side wall), cStage IVA. In an attempt to improve local control and sphincter preservation, neoadjuvant concurrent radio-chemo therapy was planned. Considering that pelvic irradiation particularly in young female might cause ovarian failure, laparoscopic ovarian transposition was carried out prior to pelvic irradiation. Sequentially the patient underwent low anterior resection of the rectum and lymphadenectomy including pelvic side wall. The menstruation was maintained with delay for 6 months after adjuvant chemotherapy. There is no evidence of cancer recurrence at 3 years after the surgery.In premenopausal patients with rectal cancer undergoing pelvic irradiation, laparoscopic ovarian transposition is one of the choices to prevent ovarian failure. PMID:26943437

  8. Adrenocortical response to low-dose ACTH test in female patients with rheumatoid arthritis.

    PubMed

    Radikova, Zofia; Rovensky, Jozef; Vlcek, Miroslav; Penesova, Adela; Kerlik, Jana; Vigas, Milan; Imrich, Richard

    2008-12-01

    Alterations in adrenal steroid production have been suggested in females with rheumatoid arthritis (RA). The aim of the present study was to assess adrenocortical function in RA females. We examined 11 female RA patients (RA: age 30 +/- 2 years, BMI 21.0 +/- 0.7 kg/m(2)) and 10 matched healthy controls (C: age 31 +/- 1 years, BMI 21.6 +/- 0.6 kg/m(2)). Low-dose adrenocorticotropic hormone (ACTH) test (i.v. bolus of 1 microg synthetic ACTH) was performed at 10.00 h with blood sampling every 15 min for 90 min. Cortisol, 17-OH-progesterone (17OHP), androstenedione (ASD), and dehydroepiandrosterone (DHEA) were assayed in plasma. Baseline cortisol levels were higher in RA patients (RA: 385 +/- 38 versus C: 229 +/- 28 nmol/L, P= 0.007). In both study groups, ACTH administration increased all the four steroids measured (P < 0.001). Cortisol response to ACTH administration was diminished in RA patients when compared to controls (Delta(max): 284 +/- 24 in RA versus 424 +/- 31 nmol/L in C, P= 0.002). ACTH-induced maximal rise in plasma DHEA was significantly lower in RA patients when compared to controls (Delta(max): 2.59 +/- 0.68 in RA versus 5.57 +/- 1.25 ng/mL in C, P= 0.015). No significant between-groups differences were found in responses of ASD or 17OHP. The molar ratio of ASD:cortisol was significantly lower (P < 0.05) in RA patients at base line, but did not differ during ACTH test. After ACTH bolus, the cortisol:17OHP ratio decreased significantly in the RA group (P < 0.001), whereas there was no change in the control group. The present results show decreased secretion of cortisol and DHEA in RA patients in response to ACTH, suggesting a subtle HPA hypofunction at the adrenocortical level. PMID:19120158

  9. Decreased functional connectivity density in pain-related brain regions of female migraine patients without aura.

    PubMed

    Gao, Qing; Xu, Fei; Jiang, Cui; Chen, Zhifeng; Chen, Huafu; Liao, Huaqiang; Zhao, Ling

    2016-02-01

    Migraine is one of the most prevalent neurological disorders which is suggested to be associated with dysfunctions of the central nervous system. The purpose of the present study was to detect the altered functional connectivity architecture in the large-scale network of the whole brain in migraine without aura (MWoA). Meanwhile, the brain functional hubs which are targeted by MWoA could be identified. A new voxel-based method named functional connectivity density (FCD) mapping was applied to resting-state functional magnetic resonance imaging data of 55 female MWoA patients and 44 age-matched female healthy controls (HC). Comparing to HC, MWoA patients showed abnormal short-range FCD values in bilateral hippocampus, bilateral insula, right amygdale, right anterior cingulate cortex, bilateral putamen, bilateral caudate nucleus and the prefrontal cortex. The results suggested decreased intraregional connectivity of these pain-related brain regions in female MWoA. In addition, short-range FCD values in left prefrontal cortex, putamen and caudate nucleus were significantly negatively correlated with duration of disease in MWoA group, implying the repeated migraine attacks over time may consistently affect the resting-state functional connectivity architecture of these brain hubs. Our findings revealed the dysfunction of brain hubs in female MWoA, and suggested the left prefrontal cortex, putamen and caudate nucleus served as sensitive neuroimaging markers for reflecting the disease duration of female MWoA. This may provide us new insights into the changes in the organization of the large-scale brain network in MWoA. PMID:26688226

  10. Effect of Leptin Replacement on PCSK9 in ob/ob Mice and Female Lipodystrophic Patients.

    PubMed

    Levenson, Amy E; Haas, Mary E; Miao, Ji; Brown, Rebecca J; de Ferranti, Sarah D; Muniyappa, Ranganath; Biddinger, Sudha B

    2016-04-01

    Leptin treatment has beneficial effects on plasma lipids in patients with lipodystrophy, but the underlying mechanism is unknown. Proprotein convertase subtilisin/kexin type 9 (PCSK9) decreases low-density lipoprotein (LDL) clearance, promotes hypercholesterolemia, and has recently emerged as a novel therapeutic target. To determine the effect of leptin on PCSK9, we treated male and female ob/ob mice with leptin for 4 days via sc osmotic pumps (∼24 μg/d). Leptin reduced body weight and food intake in all mice, but the effects of leptin on plasma PCSK9 and lipids differed markedly between the sexes. In male mice, leptin suppressed PCSK9 but had no effect on plasma triglycerides or cholesterol. In female mice, leptin suppressed plasma triglycerides and cholesterol but had no effect on plasma PCSK9. In parallel, we treated female lipodystrophic patients (8 females, ages 5-23 y) with sc metreleptin injections (∼4.4 mg/d) for 4-6 months. In this case, leptin reduced plasma PCSK9 by 26% (298 ± 109 vs 221 ± 102 ng/mL; n = 8; P = .008), and the change in PCSK9 was correlated with a decrease in LDL cholesterol (r(2) = 0.564, P = .03). In summary, in leptin-deficient ob/ob mice, the effects of leptin on PCSK9 and plasma lipids appeared to be independent of one another and strongly modified by sex. On the other hand, in lipodystrophic females, leptin treatment reduced plasma PCSK9 in parallel with LDL cholesterol. PMID:26824363

  11. Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease

    PubMed Central

    Shu, Liming; Vivekanandan-Giri, Anuradha; Pennathur, Subramaniam; Smid, Bouwien E; Aerts, Johannes M FG; Hollak, Carla E M; Shayman, James A

    2014-01-01

    The endothelial dysfunction of Fabry disease results from α-galactosidase A deficiency leading to the accumulation of globotriaosylceramide. Vasculopathy in the α-galactosidase A null mouse is manifested as oxidant-induced thrombosis, accelerated atherogenesis, and impaired arterial reactivity. To better understand the pathogenesis of Fabry disease in humans, we generated a human cell model by using RNA interference. Hybrid endothelial cells were transiently transfected with small interfering RNA (siRNA) specifically directed against α-galactosidase A. Knockdown of α-galactosidase A was confirmed using immunoblotting and globotriaosylceramide accumulation. Endothelial nitric oxide synthase (eNOS) activity was correspondingly decreased by >60%. Levels of 3-nitrotyrosine (3NT), a specific marker for reactive nitrogen species and quantified using mass spectrometry, increased by 40- to 120-fold without corresponding changes in other oxidized amino acids, consistent with eNOS-derived reactive nitrogen species as the source of the reactive oxygen species. eNOS uncoupling was confirmed by the observed increase in free plasma and protein-bound aortic 3NT levels in the α-galactosidase A knockout mice. Finally, 3NT levels, assayed in biobanked plasma samples from patients with classical Fabry disease, were over sixfold elevated compared with age- and gender-matched controls. Thus, 3NT may serve as a biomarker for the vascular involvement in Fabry disease. PMID:24402087

  12. Robotic gastrectomy with transvaginal specimen extraction for female gastric cancer patients

    PubMed Central

    Zhang, Shu; Jiang, Zhi-Wei; Wang, Gang; Feng, Xiao-Bo; Liu, Jiang; Zhao, Jian; Li, Jie-Shou

    2015-01-01

    AIM: To describe the application of complete robotic gastrectomy with transvaginal specimen extraction (TVSE) for gastric cancer patients. METHODS: Between July and November 2014, eight female patients who were diagnosed with gastric adenocarcinoma underwent a TVSE following a full robot-sewn gastrectomy. According to the tumor location, the patients were allocated to two different groups; two patients received robotic total gastrectomy with TVSE and the other six received robotic distal gastrectomy with TVSE. RESULTS: Surgical procedures were successfully performed in all eight cases without conversion. The mean age was 55.3 (range, 42-69) years, and the mean body mass index was 23.2 (range, 21.6-26.0) kg/m2. The mean total operative time and blood loss were 224 (range, 200-298) min and 62.5 (range, 50-150) mL, respectively. The mean postoperative hospital stay was 3.6 (range, 3-5) d. The mean number of lymph nodes resected was 23.6 (range, 17-27). None was readmitted within 30 d of postoperation. During the follow-up, no stricture developed nor was any anastomotic leakage detected. CONCLUSION: It is possible to perform a TVSE following a full robot-sewn gastrectomy with standard D2 lymph node resection for female gastric cancer patients. PMID:26715817

  13. Fertility preservation in female cancer patients: an emerging challenge for physicians.

    PubMed

    Caserta, D; Ralli, E; Matteucci, E; Marci, R; Moscarini, M

    2014-03-01

    Fertility preservation has become an issue of great importance in female cancer patients due to increasing survival rates and delayed childbearing. It is an emerging challenge for physicians, cause of several related issues (multidisciplinary approach, doctor-patient communication, ethical, religious and legal problems) and many unresolved questions. This review aims to update the latest literature data, summarizing the effects of cancer treatments on female fertility and the various options currently available to offer cancer patients the opportunity of future pregnancies. Many strategies exist for fertility preservation in young women and they should be assessed according to the patient's age, type of cancer, partner status and time available. Some techniques are well established, others are still experimental. The established methods include embryo cryopreservation, transposition of ovaries prior to radiation therapy, radiation shielding of gonads and conservative surgical approaches. The experimental methods include oocyte cryopreservation, in vitro maturation of oocytes, ovarian tissue cryopreservation and transplantation, and ovarian suppression. Improvement of these techniques as well as better characterization of their success rates and risks, await further investigation. Oocytes donation and gestational surrogacy represent the last options. Thus, the care of these patients is challenging, complex and requires a multidisciplinary approach. A close collaboration between Oncologists, Specialists in Reproductive Medicine, Gynecologic Oncologists and Endocrinologists is crucial for always offering the best possible option. PMID:24637474

  14. Breast cancer in a male-to-female transsexual patient with a BRCA2 mutation.

    PubMed

    Corman, Vinciane; Potorac, Iulia; Manto, Florence; Dassy, Sarah; Segers, Karin; Thiry, Albert; Bours, Vincent; Daly, Adrian F; Beckers, Albert

    2016-05-01

    Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in male breast cancer pathophysiology. Male-to-female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgens and estrogens are used to mimic the female hormonal environment and induce the cross-sex secondary characteristics. In certain situations, the change in the hormonal milieu can be disadvantageous and favor the development of hormone-dependent pathologies, such as cancer. We report a case of a MtF transgender patient who developed breast cancer after 7 years of cross-sex hormonal therapy. The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation-positive kindred. This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient. PMID:27000661

  15. [Three Elderly Female Patients Who Experienced Self-Recovery during End-of-Life Care at Home].

    PubMed

    Ohara, Hiro; Sato, Mutsuko

    2015-12-01

    Recently, after completing hospital treatment, 3 elderly female patients were introduced to our home care department for end-of-life care at home. However, these patients recovered almost by themselves and now spend quiet days. From now on, women became the era they live alone in the statistics on the elderly. On the basis of these 3 cases, it is suggested that elderly female patients have the capacity to overcome conditions such as infectious diseases and digestive system disorders. PMID:26809415

  16. Increased hair testosterone but unaltered hair cortisol in female patients with borderline personality disorder.

    PubMed

    Dettenborn, Lucia; Kirschbaum, Clemens; Gao, Wei; Spitzer, Carsten; Roepke, Stefan; Otte, Christian; Wingenfeld, Katja

    2016-09-01

    A number of studies have reported on dysfunctions in steroid secretion, including altered cortisol and testosterone levels in borderline personality disorder (BDP) patients compared to healthy controls. The present study extends findings from blood and saliva studies to the cumulative measure of hair steroids. We investigated women with BPD (n=18) and age- and education-matched healthy women (n=17). We did not find differences between BPD patients and healthy women (p=0.40) concerning hair cortisol levels but increased hair testosterone levels among BPD patients compared to controls (p=0.03). These results remained when restricting the analyses to unmedicated patients. Our data indicate altered long-term testosterone but not cortisol levels in females with BPD. Future studies should address the possible impact of altered testosterone on medical illness processes including metabolic syndrome in this population. PMID:27290653

  17. Factitious proteinuria - the most dominant feature in a young female patient with Munchausen syndrome.

    PubMed

    Lela, Ivana Vuković; Karanović, Sandra; Matišić, Danica; Kuzmanić, Duško; C Orić, Marijana; Šimić, Mirjana; Jelaković, Bojan

    2013-02-01

    Munchausen syndrome is a factitious disorder with predominantly physical signs and symptoms, resulting from the patient's high motivation for assuming a sick role, without any external incentives or boundaries. We report the case of a young female patient with factitious proteinuria in the nephrotic range and a fairly eventful medical history. After performing many expensive and unnecessary investigations and procedures,the real origin of the proteinuria was determined;it was found to be caused by the patient carefully adding calibrated egg albumin to her urine samples. This discovery roused suspicions about multiple, non-corroborated conditions from her history (e.g., multiple miscarriages, breast cancer, and thyroid disorders).The diversity of diseases presented by a single Munchausen patient tends to be bizarre,and thus is a challenge for health care providers to diagnose the condition. Teamwork is therefore of the utmost necessity to diagnose Munchausen syndrome. PMID:23364208

  18. Striped Fabry-Perots: Improved efficiency for velocimetry

    SciTech Connect

    McMillan, C.; Steinmetz, L.

    1990-07-01

    Removing a narrow stripe of the reflective coating from the input mirror of a Fabry-Perot interferometer can dramatically increase the amount of light transmitted through the system; we have observed gains in excess of 50 when we compare a conventional Fabry-Perot with the striped Fabry-Perot under similar lighting conditions. The stripe affects the distribution of light in the Fabry-Perot peaks causing them to be lower in the center of the pattern. We examine this distribution, and discuss its application in analyzing velocities. 6 refs., 6 figs., 1 tab.

  19. An Archetype Semi-Ring Fabry-Perot (SRFP) Resonator

    NASA Technical Reports Server (NTRS)

    Taghavi-Larigani, Shervin; VanZyl, Jakob

    2009-01-01

    We introduce and demonstrate the generation of a novel resonator, termed Semi-Ring Fabry-Perot (SRFP), that exhibits unique features, such as, its use of one plane mirror, allowing the SRFP to be easily fabricated as a symmetrical device. In addition to its unique features, it exhibits advantages of ring and Fabry-Perot resonators: 1) compared to a ring resonator that only allows a transmitted intensity, the Semi-Ring Fabry-Perot (SRFP) supports standing waves, allowing both a reflected and transmitted intensity; 2) the reflected light spectrum of the SRFP resonator is much narrower than similar Fabry-Perot, implying higher finesse.

  20. [Fabry-Anderson disease: current state of knowledge].

    PubMed

    Vega-Vega, Olynka; Pérez-Gutiérrez, Angélica; Correa-Rotter, Ricardo

    2011-01-01

    Fabry-Anderson disease is a lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase. This enzymatic defect results in the accumulation of glycosphingolipid into different lines cells. Usually the deficiency is complete, resulting in a multisystem disorder, with injury in different organs, predominantly heart, kidney and nervous system. However, in some patients the enzymatic deficit is partial and causes diverse clinical variants of the disease (renal or cardiac variety), this cause a difficult diagnostic and the absence of real epidemiology data. This review is about the epidemiology, the metabolic defect of this disease, it's molecular and genetics bases, the different forms of clinical presentation and the enzyme replacement therapy. PMID:21888295

  1. Health concerns related to radiation exposure of the female nuclear medicine patient.

    PubMed Central

    Stabin, M G

    1997-01-01

    The female nuclear medicine patient is of special concern in evaluating radiation dose and risk in nuclear medicine. The female's overall body size and organ sizes generally are smaller than those of her male counterpart (thus her radiation doses will be higher, given the same amounts of administered activity and similar biokinetics); female gonads are inside the body instead of outside and are near several organs often important as source organs in internal dosimetry (urinary bladder, liver, kidneys, intestines); risk of breast cancer is significantly higher among females than males; and in the case of pregnancy, exposure to radiation of the embryo/fetus and the nursing infant are of special concern in such an analysis. All these concerns are addressed in this study through a comparative study of radiation doses for males and females over a large number (approximately 60) of nuclear medicine studies and through a study of what is known about radiation dosimetry in pregnancy and breast feeding. It was found that women's critical organ doses and effective doses (as defined by the International Commission on Radiological Protection 60 [ICRP 60] are about 25% higher than those for men across all these studies. Women's gonad doses, however, may be as much as 10 to 30 times higher than those in men, although 2- to 3-fold differences are common. Many radiopharmaceuticals are administered to women of childbearing age; however, little is known about how much activity crosses the placenta and about the biokinetics in the fetus should it occur. Nonetheless, dose estimates are provided at four stages of pregnancy (early, 3-month, 6-month, and 9-month gestation) for a large number of radiopharmaceuticals, whether or not quantitative estimates of placental crossover can be made. Many radiopharmaceuticals are also excreted in breast milk of nursing mothers. Breast feeding interruption schedules are suggested through analysis of the observed kinetics of these pharmaceuticals and

  2. Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study.

    PubMed

    Chimenti, Cristina; Padua, Luca; Pazzaglia, Costanza; Morgante, Emanuela; Centurion, Carlos; Antuzzi, Daniela; Russo, Matteo A; Frustaci, Andrea

    2012-09-01

    Skeletal muscle disturbances are commonly reported in patients with Fabry disease. Whether they derive from cardiac dysfunction or direct muscle involvement is still unclear. Clinical, noninvasive, and invasive cardiac and muscle studies, including an endomyocardial and muscle biopsy, were obtained in 12 patients (mean age, 42.1 ± 12.6 years; range, 24-58 years) with Fabry disease. In the youngest patients (group A, 4 men aged <35 years), results of cardiac and skeletal noninvasive studies were normal, except for reduced velocities in tissue Doppler imaging. Histologic examination indicated that muscle myocytes were unaffected, whereas muscle vessels showed the presence of mild glycosphingolipid accumulation in endothelial and smooth muscle cells. In the heart, cardiomyocytes and endothelial and smooth muscle cells of intramural cardiac vessels were involved by the disease. The oldest patients (group B, 6 men and 2 women aged >35 years) showed ultrasound muscle disarray and electromyography signs of myopathy, increased left ventricular mass, and normal cardiac function. Histologic examination showed that muscle myocytes contained mild glycosphingolipid accumulation compared with severe engulfment of cardiomyocytes. Moreover, similar infiltration of myocardial and muscle intramural vessels, causing lumen narrowing and fibrofatty tissue replacement, was observed. Direct muscle involvement occurs in patients with Fabry disease. It is milder and delayed compared with that in the heart. The difference in organ function and the need of residual α-galactosidase A activity are the likely causes. PMID:22406371

  3. [Gene mutation analysis of coagulation factor VIII from a female patient with hemophilia A].

    PubMed

    Zhou, Jing; Yan, Nai-hong; Jia, Yong-qian; Lu, Yi-lu; Yu, Jiang; Cao, Gui-qun; Chen, Qing-ying; Wang, Ling; Zhang, Fa-qiang; Xia, Oing-jie

    2006-05-01

    Hemophilia A affects male, whereas females are carriers and generally spared from this disease. However, we here reported a 65-year-old female with Hemophilia A while screening the gene mutation of coagulation factor VIII. The female went to hospital because of tripping to lead her right chest to be injured with subcutaneous hematoma. She had historically a hemorrhagic diathesis. The physical examination discovered her hip limited to bend and move, but no discrepancy length between her two legs. The initial laboratory tests showed that the activated partial thromboplastin time (APTT) was 61. 3 seconds (20-40 seconds), and the APTT corrected by mixing with normal plasma was 41.3 s, but the levels of PT, FIB and TT were normal. The plain radiographs revealed the hip joints to suffer from the acetabular dysplasia and osteoarthritis. The level of FVIII:C was 2%, F IX:C 200%, vWF:Ag 120%, vWF:Rcof 100%, vWF:CBA 128%, and the F VIII binding assay to vWF was normal. The primers for exon 14 of F VIII gene were designed according to the NM - 000132 gene sequence. DNA was abstracted from the patient blood. PCR were carried out and the DNA sequence was followed. A new mutation of 4111A-->C was discovered, which caused the amino acid sequence changed (T 1314 P). The mutation of T 1314 P may be the cause of this female patient to get the hemophilia A. This mutation was a novel one which has never been reported before. PMID:16761442

  4. Long-Term Effects of Continuous Positive Airway Pressure Treatment on Sexuality in Female Patients with Obstructive Sleep Apnea

    PubMed Central

    Petersen, Marian; Kristensen, Ellids; Berg, Søren; Midgren, Bengt

    2013-01-01

    Introduction Results from a previous study showed that sexuality was negatively affected in females with untreated obstructive sleep apnea (OSA). Data are sparse on the long-term effects of nocturnal continuous positive airway pressure (CPAP) treatment on sexual difficulties and sexual distress in female patients with OSA. Aim The aim of the present study was to investigate the effects after 1 year of CPAP treatment on sexual difficulties, sexual distress, and manifest sexual dysfunction in female patients with OSA. The effect of CPAP on life satisfaction was also investigated. Methods Fifty-four therapy-compliant, female patients (age 22–71) received a survey before and after 1 year of nocturnal CPAP treatment. The questions on this survey were drawn from three self-administered questionnaires: two on sexuality and one on life satisfaction. The results were compared with a population sample. The Epworth Sleepiness Scale was used for assessment of daytime sleepiness. Main Outcome Measures The Female Sexual Function Index, Female Sexual Distress Scale, Manifest Female Sexual Dysfunction, four questions from Life Satisfaction 11, and the Epworth Sleepiness Scale were all used to measure outcome. Results In total, 44 patients responded to the survey (81% response rate). The results were a significant, positive change in manifest female sexual dysfunction, but no significant changes in isolated sexual difficulties or sexual distress. Daytime sleepiness significantly decreased after 1 year. The results from the Life Satisfaction 11 questionnaire remained unchanged after 1 year. Conclusions After 1 year of CPAP treatment, female patients with OSA reported reduced manifest sexual dysfunction. However, it cannot be concluded if this result is due to CPAP treatment alone. Furthermore, reduced daytime tiredness was found in the surveyed population. CPAP treatment, per se, does not seem to affect partner relationships. Petersen M, Kristensen E, Berg S, and Midgren B. Long

  5. Phonatory symptoms and impact on quality of life in female patients with goiter.

    PubMed

    Hamdan, Abdul-Latif; Dowli, Alexander; Jabbour, Jad; Sabri, Alain; Azar, Sami T

    2016-07-01

    Our objective is to report on the prevalence of phonatory symptoms and impact on quality of life in a group of female patients with goiter who had not been selected for surgery or who had not presented to the emergency room with respiratory distress. A total of 40 patients with goiter and 14 controls were enrolled in this study. Demographic data included age, sex, laryngopharyngeal reflux disease, allergy, smoking, duration of disease, presence or absence of compressive symptoms, presence or absence of thyroid gland nodules, vascular status, presence or absence of calcifications, and thyroid-stimulating hormone levels. Phonatory symptoms included hoarseness, vocal fatigue, vocal straining, lump sensation, and aphonia. The Voice Handicap Index 10 was used to assess the impact of phonatory symptoms on quality of life. The most common phonatory symptom in the patients with goiter was vocal fatigue followed by lump sensation. The only phonatory symptom that was significantly more present in patients with goiter was vocal straining. As for the impact of phonatory symptoms on quality of life, 15.8% of goiter patients had a Voice Handicap Index score >7 compared with 7.7% of controls. Phonatory symptoms are common in patients with goiter, with vocal straining occurring significantly more frequently than in controls. In 1 of 6 patients, the presence of phonatory symptoms had an impact on quality of life. PMID:27434485

  6. Fibromyalgia syndrome: is it related to vitamin D deficiency in premenopausal female patients?

    PubMed

    Okumus, Muyesser; Koybası, Mine; Tuncay, Figen; Ceceli, Esma; Ayhan, Figen; Yorgancioglu, Rezan; Borman, Pinar

    2013-12-01

    There are a number of studies that have evaluated the relationship between fibromyalgia (FM) and vitamin D deficiency with conflicting results. The aim of this study was to assess vitamin D deficiency in patients with FM and to evaluate the relationship with the common symptoms of FM and levels of serum vitamin D. Forty premenopausal female fibromyalgia patients and 40 age- and sex-matched control subjects were included in the study. The demographic characteristics of all subjects, including age, sex, and body mass index, were recorded. The number of tender points was recorded, and the intensity of the widespread pain of the subjects was measured by the visual analog scale. The activities of daily living component of the Fibromyalgia Impact Questionnaire (FIQ-ADL), was used to assess physical functional capacity. Serum vitamin D was measured in both groups, and vitamin D levels <37.5 nmol/L were accepted as vitamin D deficiency. The vitamin D levels and clinical and laboratory characteristics of the patient and control groups were comparatively analyzed. The relationship between vitamin D levels and clinical findings of the FM patients were also determined. The mean age was 41.23 ± 4.8 and 39.48 ± 4.08 years for the patient and control groups, respectively. The pain intensity, number of tender points, and FIQ-ADL scores were higher in FM patients than in control subjects. The mean levels of vitamin D in the patient and control groups were determined to be 31.97 ± 15.50 and 28.97 ± 13.31 nmol/L, respectively (p > .05). The incidence of vitamin D deficiency was similar between the patient and control groups (67.5% vs. 70%). Vitamin D levels significantly correlated with pain intensity (r = -0.653; p = .001) and FIQ-ADL scores in the FM group (r = -0.344; p = .030). In conclusion, the results of this study indicate that deficiency of vitamin D is not more common in premenopausal female patients with FM than in control subjects without FM. However, the association

  7. Impact of Radiotherapy on Fertility, Pregnancy, and Neonatal Outcomes in Female Cancer Patients

    SciTech Connect

    Wo, Jennifer Y.; Viswanathan, Akila N.

    2009-04-01

    Purpose: Radiation has many potential long-term effects on cancer survivors. Female cancer patients may experience decreased fertility depending on the site irradiated. Oncologists should be aware of these consequences and discuss options for fertility preservation before initiating therapy. Methods and Materials: A comprehensive review of the existing literature was conducted. Studies reporting the outcomes for female patients treated with cranio-spinal, abdominal, or pelvic radiation reporting fertility, pregnancy, or neonatal-related outcomes were reviewed. Results: Cranio-spinal irradiation elicited significant hormonal changes in women that affected their ability to become pregnant later in life. Women treated with abdomino-pelvic radiation have an increased rate of uterine dysfunction leading to miscarriage, preterm labor, low birth weight, and placental abnormalities. Early menopause results from low-dose ovarian radiation. Ovarian transposition may decrease the rates of ovarian dysfunction. Conclusions: There is a dose-dependent relationship between ovarian radiation therapy (RT) and premature menopause. Patients treated with RT must be aware of the impact of treatment on fertility and explore appropriate options.

  8. Gender Identity and Gender Role in DSD Patients Raised as Females: A Preliminary Outcome Study

    PubMed Central

    Ercan, Oya; Kutlug, Seyhan; Uysal, Omer; Alikasifoglu, Mujgan; Inceoglu, Derya

    2013-01-01

    Gender identity and gender role are expected to be consistent with gender assignment for optimal DSD management outcome. To our knowledge, our study is the first to attempt evaluation of gender related outcomes in Turkish DSD patients. After receiving institutional ethical board approval and subject (or parent) informed consent, subjects with DSD raised as girls (22 patients 46 XX DSD, 11 patients 46 XY DSD) answered 566 questions of the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire including 60-item Masculinity-Femininity (MF) subscale which was the focus in this study. Controls (n: 50) were females similar to the probands in age, level of education, relationship status, and having a job or not also answered all questions. The answers were evaluated by a trained psychologist (Derya Inceoglu) on MMPI. For statistical purposes, seven findings were obtained from the data related to the MF subscale from the patients and controls. Of these seven findings (S1–S7), two were associated with masculinity (S3–S4) and another two were associated with femininity (S5–S6). In DSD patients, the percentages of masculinity findings were significantly higher when compared to controls (p < 0.001 and p < 0.001 for S3 and S4, respectively). In controls, the percentages of femininity findings were significantly higher when compared to DSD females (p < 0.001 and p < 0.001 for S5 and S6 respectively). There was no significant difference between 46 XX DSD patients and 46 XY DSD patients with respect to the percentage of any of the seven findings. Two patients requested gender change to male; only these two patients had the finding stating that sexual impulses could come to existence as actions (S7). In conclusion efforts to identify modifiable factors with negative impact and thus modifying them, and professional guidance may be important in minimizing the encountered gender related problems in DSD patients. PMID:23874323

  9. Management of a young female patient with Fournier's gangrene and Lemierre's syndrome.

    PubMed

    Aslanidis, Theodoros; Myrou, Athena; Giannakou-Peftoulidou, Maria

    2014-01-01

    Fournier's gangrene is an acute, rapidly progressive, and potentially fatal, infective necrotizing fasciitis affecting the external genitalia, perineal or perianal regions. Lemierre's syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. Although the literature about either of them is rich, there is no report about co-appearance of the two syndromes. We present the case of a young healthy female patient who suffered concomitantly from Fournier's gangrene and Lemierre's syndrome after minor surgery. PMID:25489369

  10. Management of a young female patient with Fournier's gangrene and Lemierre's syndrome

    PubMed Central

    Aslanidis, Theodoros; Myrou, Athena; Giannakou-Peftoulidou, Maria

    2014-01-01

    Fournier's gangrene is an acute, rapidly progressive, and potentially fatal, infective necrotizing fasciitis affecting the external genitalia, perineal or perianal regions. Lemierre's syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. Although the literature about either of them is rich, there is no report about co-appearance of the two syndromes. We present the case of a young healthy female patient who suffered concomitantly from Fournier's gangrene and Lemierre's syndrome after minor surgery. PMID:25489369

  11. Three Cavity Tunable MEMS Fabry Perot Interferometer

    PubMed Central

    Parashar, Avinash; Shah, Ankur; Packirisamy, Muthukumaran; Sivakumar, Narayanswamy

    2007-01-01

    In this paper a four-mirror tunable micro electro-mechanical systems (MEMS) Fabry Perot Interferometer (FPI) concept is proposed with the mathematical model. The spectral range of the proposed FPI lies in the infrared spectrum ranging from 2400 to 4018 (nm). FPI can be finely tuned by deflecting the two middle mirrors (or by changing the three cavity lengths). Two different cases were separately considered for the tuning. In case one, tuning was achieved by deflecting mirror 2 only and in case two, both mirrors 2 and 3 were deflected for the tuning of the FPI.

  12. Fertility Protection in Female Oncology Patients: How Should Patients Be Counseled?

    PubMed Central

    Findeklee, S.; Lotz, L.; Heusinger, K.; Hoffmann, I.; Dittrich, R.; Beckmann, M. W.

    2015-01-01

    Protecting the fertility of patients with oncologic disease is becoming more and more important, as fulfilling the wish to have children is increasingly occurring at a later stage in life and long-term survival rates after cancer are continuing to improve. A number of fertility-preserving options exist. In addition to techniques which have been around for some time such as medical ovarian suppression, ovarian transposition, and organ-preserving surgery, there are other, more recent, innovative methods which have developed over the last few years such as cryopreservation of oocytes or ovarian tissue transplantation after completing cancer therapy. As every procedure has its specific advantages and disadvantages, informed patient consent is essential. The physicianʼs aim must be to select the optimal procedure for each patient. The extent of patientsʼ information about the options to preserve fertility in women with oncologic disease remains limited. One of the main reasons for this is that clinicians are not sure how to inform patients about existing procedures and methods. The aim of this review article is to provide help in clinical practice. PMID:26726265

  13. Early dysautonomia detected by heart rate variability predicts late depression in female patients following mild traumatic brain injury.

    PubMed

    Sung, Chih-Wei; Lee, Hsin-Chien; Chiang, Yung-Hsiao; Chiu, Wen-Ta; Chu, Shu-Fen; Ou, Ju-Chi; Tsai, Shin-Han; Liao, Kuo-Hsing; Lin, Chien-Min; Lin, Jia-Wei; Chen, Gunng-Shinng; Li, Wei-Jiun; Wang, Jia-Yi

    2016-04-01

    Depression is one of the frequent complications following a mild traumatic brain injury (mTBI). Recent research indicated that abnormalities in the autonomic nervous system (ANS) can be evaluated by a noninvasive power spectral analysis of the heart rate variability (HRV). In this study, we investigated whether a frequency-domain analysis of HRV was correlated with late depression in mTBI patients. In total, 181 patients diagnosed with mTBI and 83 volunteers as healthy controls were recruited in 2010-2014. Beck Depression Inventory (BDI) scores were used to evaluate depression in the 1st week of assessment and at 1.5-, 3-, 6-, 12-, and 18-month follow-ups. Correlation and logistic regression analyses of the 1st week HRV parameters with BDI scores at 18 months were performed in individual female mTBI patients. Female mTBI patients were more vulnerable to depression accompanied by reduced HRV compared to healthy controls. Over time, depression was aggravated in female mTBI patients but was alleviated in male mTBI patients. A significantly lower parasympathetic proportion of the ANS was noted at 18 months with respect to the 1st week in female mTBI patients. In addition, depression in female mTBI patients at 18 months after injury was significantly correlated with a decrease in the parasympathetic proportion of the ANS in the 1st week (ρ = -0.411; p < .05). Dysautonomia resulted in higher risks of depression in female mTBI patients. We concluded that early dysautonomia following an mTBI contributes to late depression in female mTBI patients. PMID:26560198

  14. Irony and proverb comprehension in schizophrenia: do female patients "dislike" ironic remarks?

    PubMed

    Rapp, Alexander M; Langohr, Karin; Mutschler, Dorothee E; Wild, Barbara

    2014-01-01

    Difficulties in understanding irony and sarcasm are part of the social cognition deficits in patients with schizophrenia. A number of studies have reported higher error rates during comprehension in patients with schizophrenia. However, the relationships of these impairments to schizotypal personality traits and other language deficits, such as the comprehension of proverbs, are unclear. We investigated irony and proverb comprehension in an all-female sample of 20 schizophrenia patients and 27 matched controls. Subjects indicated if a statement was intended to be ironic, literal, or meaningless and furthermore rated the meanness and funniness of the stimuli and certainty of their decision. Patients made significantly more errors than controls did. Globally, there were no overall differences in the ratings. However, patients rated the subgroup of stimuli with answers given incorrectly as having significantly less meanness and in case of an error indicated a significantly higher certainty than controls. Across all of the study participants, performances in irony (r = -0.51) and proverb (r = 0.56) comprehension were significantly correlated with schizotypal personality traits, suggesting a continuum of nonliteral language understanding. Because irony is so frequent in everyday conversations, this makes irony an especially promising candidate for social cognition training in schizophrenia. PMID:24991434

  15. Profile Difference Between Male and Female Psychiatric Patients Seeking Certificate of Disability

    PubMed Central

    Balhara, Yatan Pal Singh; Gauba, Deepak; Deshpande, Smita N.

    2011-01-01

    Objective Neuropsychiatric disorders are one of the major contributors to the global burden of disease and disability. Issue of disability in psychiatric disorders has been studied across multiple studies in India. However, there are no reports on the profile and nature of disability among those seeking disability certificates. The current study aims at understanding the socio-clinical profile of patients seeking disability certificate in a tertiary care hospital in India. Methods The study was carried out in the Department of Psychiatry of a tertiary care multispecialty teaching hospital. A chart review of the records of the patients referred for disability evaluation over a one year period was conducted. The disability was assessed using IDEAS. In between group comparisons were carried out for male and female subjects for different socio-demographic variables, IDEAS total score and individuals item score using independent sample t test (parametric test) and Mann Whitney-U test (non parametric test). Additionally, Spearman’s rank order correlation was calculated to establish the level of correlation between total IDEAS score and score on individual items of the scale. Results The subjects were diagnosed to have been suffering from mental retardation 107 (61.8%), schizophrenia 54 (31.2%), dementia 5 (2.9%), bipolar affective disorder 4 (2.3%) and obsessive compulsive disorder 3 (1.7%) as per ICD-10. Male and female subjects differed significantly on the global IDEAS score. The total score was significantly higher for male subjects compared to female subjects. The difference was statistically significant for "self care" and interpersonal activities items of the scale with male subjects having higher disability scores. Conclusions The current study provides some important insights into profile of disability certificate seeking individuals in India. PMID:22253949

  16. Age at menopause: A fundamental data of interest to acquire in female patients' anamnesis.

    PubMed

    Sciomer, Susanna; De Carlo, Carlotta; Moscucci, Federica; Maffei, Silvia

    2016-07-15

    Although menopause is a universal phenomenon among women, the timing of the onset and the duration of the menopausal transition and the timing of the final menstrual period are not so codified. Compelling evidence supports the idea that the different impact of cardiovascular disease and the differences in vascular biology in men and women may be, at least in part, related to the cardiovascular and metabolic effects of sex steroid hormones. Indeed, androgens and estrogens influence a multitude of vascular biological processes and their cardiovascular effects are multifaceted. Gender pharmacology has proven that men and women have tiny but not paltry different effects to the same drug. Estrogens exert potential beneficial effects on the cardiovascular system in both sexes. It is evident that there is a need for the physician who approaches the female patient, to stress the main anamnestic data concerning her hormonal life starting from menarche, through pregnancy, until menopause. Thus it will be not only a formality becoming a cornerstone of the first doctor-patient relationship, both for in- and outpatient, we will have a clear and complete representation of the etiology and evolution of cardiovascular diseases that increasingly afflict the female gender. PMID:27128561

  17. Elevated cognitive control over reward processing in recovered female patients with anorexia nervosa

    PubMed Central

    Ehrlich, Stefan; Geisler, Daniel; Ritschel, Franziska; King, Joseph A.; Seidel, Maria; Boehm, Ilka; Breier, Marion; Clas, Sabine; Weiss, Jessika; Marxen, Michael; Smolka, Michael N.; Roessner, Veit; Kroemer, Nils B.

    2015-01-01

    Background Individuals with anorexia nervosa are thought to exert excessive self-control to inhibit primary drives. Methods This study used functional MRI (fMRI) to interrogate interactions between the neural correlates of cognitive control and motivational processes in the brain reward system during the anticipation of monetary reward and reward-related feedback. In order to avoid confounding effects of undernutrition, we studied female participants recovered from anorexia nervosa and closely matched healthy female controls. The fMRI analysis (including node-to-node functional connectivity) followed a region of interest approach based on models of the brain reward system and cognitive control regions implicated in anorexia nervosa: the ventral striatum, medial orbitofrontal cortex (mOFC) and dorsolateral prefrontal cortex (DLPFC). Results We included 30 recovered patients and 30 controls in our study. There were no behavioural differences and no differences in hemodynamic responses of the ventral striatum and the mOFC in the 2 phases of the task. However, relative to controls, recovered patients showed elevated DLPFC activity during the anticipation phase, failed to deactivate this region during the feedback phase and displayed greater functional coupling between the DLPFC and mOFC. Recovered patients also had stronger associations than controls between anticipation-related DLPFC responses and instrumental responding. Limitations The results we obtained using monetary stimuli might not generalize to other forms of reward. Conclusion Unaltered neural responses in ventral limbic reward networks but increased recruitment of and connectivity with lateral–frontal brain circuitry in recovered patients suggests an elevated degree of self-regulatory processes in response to rewarding stimuli. An imbalance between brain systems subserving bottom–up and top–down processes may be a trait marker of the disorder. PMID:26107161

  18. Serum Vitamin D3 Level in Patients with Female Pattern Hair Loss

    PubMed Central

    Banihashemi, Mahnaz; Nahidi, Yalda; Meibodi, Naser Tayyebi; Jarahi, Lida; Dolatkhah, Mojgan

    2016-01-01

    Background: Female pattern hair loss (FPHL) is the most common cause of alopecia in women, characterized by diffuse nonscarring hair loss in frontal, central, and parietal areas of the scalp. Pathophysiology of FPHL is still not well known, and it is probably a multifactorial genetic trait. FPHL is also observed in women without increased androgen levels, which raises the likelihood of androgen-independent mechanisms and explains the lack of response to antiandrogen treatments in some patients. Vitamin D is a factor that has recently been considered in dealing with these patients. The purpose of this study was to evaluate the serum levels of Vitamin D in patients with FPHL and compare it with healthy controls. Methods: In this case-control study, 45 women with FPHL were evaluated as well as the same number of healthy women matched for age, hours spent under sunlight per day, and body mass index. Serum 25(OH) D3 level was measured using ELISA. Results: 60% of FPHL patients were in 15–30 years old age group with the mean standard deviation (SD) age of 29.11 (7.30) years. In the majority of patients (66.7%), severity of hair loss was Ludwig I. Mean (SD) serum Vitamin D3 level in patient and control group was 13.45 (8.40) and 17.16 (8.96), respectively. T-test showed a significant difference between the two groups in terms of Vitamin D3 serum levels (P = 0.04). Conclusions: This study indicated the correlation between the incidence of FPHL and decreased serum levels of Vitamin D3. It is recommended to evaluate serum Vitamin D3 levels as well as other hormone assays in these patients. PMID:27625563

  19. Posturographic destabilization in eating disorders in female patients exposed to body image related phobic stimuli.

    PubMed

    Forghieri, M; Monzani, D; Mackinnon, A; Ferrari, S; Gherpelli, C; Galeazzi, G M

    2016-08-26

    Human postural control is dependent on the central integration of vestibular, visual and proprioceptive inputs. Psychological states can affect balance control: anxiety, in particular, has been shown to influence balance mediated by visual stimuli. We hypothesized that patients with eating disorders would show postural destabilization when exposed to their image in a mirror and to the image of a fashion model representing their body ideal in comparison to body neutral stimuli. Seventeen females patients attending a day centre for the treatment of eating disorders were administered psychometric measures of body dissatisfaction, anxiety, depression and underwent posturographic measures with their eyes closed, open, watching a neutral stimulus, while exposed to a full length mirror and to an image of a fashion model corresponding to their body image. Results were compared to those obtained by eighteen healthy subjects. Eating disordered patients showed higher levels of body dissatisfaction and higher postural destabilization than controls, but this was limited to the conditions in which they were exposed to their mirror image or a fashion model image. Postural destabilization under these conditions correlated with measures of body dissatisfaction. In eating disordered patients, body related stimuli seem to act as phobic stimuli in the posturographic paradigm used. If confirmed, this has the potential to be developed for diagnostic and therapeutic purposes. PMID:27397012

  20. Partner Violence Before and After Couples-Based Alcoholism Treatment for Female Alcoholic Patients

    PubMed Central

    Schumm, Jeremiah A.; O'Farrell, Timothy J.; Murphy, Christopher M.; Fals-Stewart, William

    2010-01-01

    This study examined partner violence before and in the first and second year after behavioral couples therapy (BCT) for 103 married or cohabiting women seeking alcohol dependence treatment and their male partners, and used a demographically matched non-alcoholic comparison sample. The treatment sample received M = 16.7 BCT sessions over 5-6 months. Follow-up rates for the treatment sample at years 1 and 2 were 88% and 83%, respectively. In the year before BCT, 68% of female alcoholic patients had been violent toward their male partner, nearly five times the comparison sample rate of 15%. In the year after BCT, violence prevalence decreased significantly to 31% of the treatment sample. Women were classified as remitted after treatment if they demonstrated abstinence or minimal substance use and no serious consequences related to substance use. In year 1 following BCT, 45% were classified as remitted, and 49% were classified as remitted in year 2. Among remitted patients in the year after BCT, violence prevalence of 22% did not differ from the comparison sample and was significantly lower than the rate among relapsed patients (38%). Results for male-perpetrated violence and for the second year after BCT were similar to the first year. Results supported predictions that partner violence would decrease after BCT, and that clinically significant violence reductions to the level of a non-alcoholic comparison sample would occur for patients whose alcoholism was remitted after BCT. These findings replicate previous research among men with alcoholism. PMID:19968389

  1. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

    PubMed Central

    2011-01-01

    Background Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Methods An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. Results We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities) and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. Conclusions Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with Fabry disease appears to be

  2. Alterations in lower limb multimuscle activation patterns during stair climbing in female total knee arthroplasty patients.

    PubMed

    Kuntze, G; von Tscharner, V; Hutchison, C; Ronsky, J L

    2015-11-01

    Total knee arthroplasty (TKA) patients commonly experience neuromuscular adaptations that may affect stair climbing competence. This study identified multimuscle pattern (MMP) changes in postoperative female TKA patients during stair climbing with a support vector machine (SVM). It was hypothesized that TKA patients adopt temporal and spectral muscle activation characteristics indicative of muscle atrophy and cocontraction strategies. Nineteen female subjects [10 unilateral sex-specific TKAs, 62.2 ± 8.6 yr, body mass index (BMI) 28.2 ± 5.4 kg/m(2); 9 healthy control subjects, 61.4 ± 7.4 yr, BMI 25.6 ± 2.4 kg/m(2)] were recruited. Surface electromyograms (EMGs) were obtained for seven lower limb muscles of the affected limb of TKA subjects and a randomly assigned limb for control subjects during stair climbing. Stance phase (±30%) EMG data were wavelet transformed and normalized to total power. Data across all muscles were combined to form MMPs and analyzed with a SVM. Statistical analysis was performed with binomial tests, independent group t-tests, or independent group Mann-Whitney U-tests in SPSS (P < 0.05). SVM results indicated significantly altered muscle activation patterns in the TKA group for biceps femoris (recognition rate 84.2%), semitendinosus (recognition rate 73.7%), gastrocnemius (recognition rate 68.4%), and tibialis anterior (recognition rate 68.4%). Further analysis identified no significant differences in spectral activation characteristics between groups. Temporal adaptations, indicative of cocontraction strategies, were, however, evident in TKA MMPs. This approach may provide a valuable tool for clinical neuromuscular function assessment and rehabilitation monitoring. PMID:26354313

  3. Intimate partner violence and mental health symptoms in African American female ED patients#

    PubMed Central

    Houry, Debra; Kemball, Robin; Rhodes, Karin V.; Kaslow, Nadine J.

    2006-01-01

    Background Intimate partner violence (IPV) victims often seek care in the ED, whether for an injury from abuse or other sequelae such as mental health symptoms. Objectives The objective of the study was to assess whether depressive symptoms, posttraumatic stress disorder (PTSD), and suicidality were associated with physical, sexual, or emotional IPV in African American female ED patients and to determine if experiencing multiple types of abuse was associated with increased mental health symptoms. Methods All eligible African American female patients were approached in the ED waiting room during study periods. Patients participated in the screening process via a computer kiosk. Questions regarding IPV and mental health symptoms were asked using validated tools. Results In this prospective cohort, 569 participated and 36% of those in a relationship in the past year (n = 461) disclosed that there were victims of IPV in the past year. In the past year, 22% experienced recent physical abuse, 9% recent sexual abuse, and 32% recent emotional abuse. A Pearson correlation was conducted and showed that all mental health symptoms were positively correlated with each type of IPV and each type of mental health symptom category. Mental health symptoms increased significantly with amount of abuse: depression (odds ratio [OR], 5.9 for 3 types of abuse), PTSD (OR, 9.4 for 3), and suicidality (OR, 17.5 for 3). Conclusions Emotional, sexual, and physical IPV were significantly associated with mental health symptoms. Each type of abuse was independently associated with depression, suicidality, and PTSD. Experiencing more than 1 type of abuse was also correlated with increased mental health symptoms. PMID:16787803

  4. Sexual dysfunction among female patients of reproductive age in a hospital setting in Nigeria.

    PubMed

    Fajewonyomi, Benjamin A; Orji, Ernest O; Adeyemo, Adenike O

    2007-03-01

    Although sexual dysfunction is an important public-health problem in Nigeria, little research has been conducted on this topic in Nigeria. This cross-sectional study was conducted to determine the prevalence of sexual dysfunction and their correlates among female patients of reproductive age using a questionnaire. Respondents were recruited from the out-patients clinics of a teaching hospital setting in Ile-Ife/ Ijesa administrative health zone, Osun State, Nigeria. Of 384 female patients interviewed, 242 (63%) were sexually dysfunctional. Types of sexual dysfunction included disorder of desire (n=20; 8.3%), disorder of arousal (n=l 3; 5.4%), disorder of orgasm (n=154; 63.6%), and painful coitus (dyspareunia) (n=55; 22.7%). The peak age of sexual dysfunction was observed among the age-group of 26-30 years. Women with higher educational status were mostly affected. The reasons for unsatisfactory sexual life mainly included psychosexual factors and medical illnesses, among which included uncaring partners, present illness, excessive domestic duties, lack of adequate foreplay, present medication, competition among wives in a polygamous family setting, previous sexual abuse, and guilt-feeling of previous pregnancy termination among infertile women. The culture of male dominance in the local environment which makes women afraid of rejection and threats of divorce if they ever complain about sexually-related matters might perpetrate sexual dysfunction among the affected individuals. Sexual dysfunction is a real social and psychological problem in the local environment demanding urgent attention. It is imperative to carry out further research in society at large so that the health and lifestyles of affected women and their partners could be improved. PMID:17615910

  5. Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability – Further Delineation of the Phenotype and Expression Studies

    PubMed Central

    Zink, A.M.; Wohlleber, E.; Engels, H.; Rødningen, O.K.; Ravn, K.; Heilmann, S.; Rehnitz, J.; Katzorke, N.; Kraus, C.; Blichfeldt, S.; Hoffmann, P.; Reutter, H.; Brockschmidt, F.F.; Kreiß-Nachtsheim, M.; Vogt, P.H.; Prescott, T.E.; Tümer, Z.; Lee, J.A.

    2014-01-01

    Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1. PMID:24715853

  6. Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

    PubMed

    Zink, A M; Wohlleber, E; Engels, H; Rødningen, O K; Ravn, K; Heilmann, S; Rehnitz, J; Katzorke, N; Kraus, C; Blichfeldt, S; Hoffmann, P; Reutter, H; Brockschmidt, F F; Kreiß-Nachtsheim, M; Vogt, P H; Prescott, T E; Tümer, Z; Lee, J A

    2014-02-01

    Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1. PMID:24715853

  7. MALDI-TOF and cluster-TOF-SIMS imaging of Fabry disease biomarkers

    NASA Astrophysics Data System (ADS)

    Touboul, David; Roy, Sandrine; Germain, Dominique P.; Chaminade, Pierre; Brunelle, Alain; Laprevote, Olivier

    2007-02-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism, in which a partial or total deficiency of [alpha]-galactosidase A, a lysosomal enzyme, results in the progressive accumulation of neutral glycosphingolipids (globotriaosylceramide and digalactosylceramide) in most fluids and tissues of the body. Few information is available about the composition and distribution in tissues of the accumulated glycosphingolipids species. Mass spectrometry imaging is an innovative technique, which can provide pieces of information about the distribution of numerous biological compounds, such as lipids, directly on the tissue sections. MALDI-TOF and cluster-TOF-SIMS imaging approaches were used to study the localization of lipids (cholesterol, cholesterol sulfate, vitamin E, glycosphingolipids ...) on skin and kidney sections of patients affected by the Fabry disease. Numerous information on pathophysiology were enlightened by both techniques.

  8. Abnormal functional global and local brain connectivity in female patients with anorexia nervosa

    PubMed Central

    Geisler, Daniel; Borchardt, Viola; Lord, Anton R.; Boehm, Ilka; Ritschel, Franziska; Zwipp, Johannes; Clas, Sabine; King, Joseph A.; Wolff-Stephan, Silvia; Roessner, Veit; Walter, Martin; Ehrlich, Stefan

    2016-01-01

    Background Previous resting-state functional connectivity studies in patients with anorexia nervosa used independent component analysis or seed-based connectivity analysis to probe specific brain networks. Instead, modelling the entire brain as a complex network allows determination of graph-theoretical metrics, which describe global and local properties of how brain networks are organized and how they interact. Methods To determine differences in network properties between female patients with acute anorexia nervosa and pairwise matched healthy controls, we used resting-state fMRI and computed well-established global and local graph metrics across a range of network densities. Results Our analyses included 35 patients and 35 controls. We found that the global functional network structure in patients with anorexia nervosa is characterized by increases in both characteristic path length (longer average routes between nodes) and assortativity (more nodes with a similar connectedness link together). Accordingly, we found locally decreased connectivity strength and increased path length in the posterior insula and thalamus. Limitations The present results may be limited to the methods applied during preprocessing and network construction. Conclusion We demonstrated anorexia nervosa–related changes in the network configuration for, to our knowledge, the first time using resting-state fMRI and graph-theoretical measures. Our findings revealed an altered global brain network architecture accompanied by local degradations indicating wide-scale disturbance in information flow across brain networks in patients with acute anorexia nervosa. Reduced local network efficiency in the thalamus and posterior insula may reflect a mechanism that helps explain the impaired integration of visuospatial and homeostatic signals in patients with this disorder, which is thought to be linked to abnormal representations of body size and hunger. PMID:26252451

  9. Searching for patent foramen ovale in a 44-year-old female patient after ischemic stroke – diagnostic problems

    PubMed Central

    Kralisz, Paweł; Bachórzewska-Gajewska, Hanna; Dobrzycki, Sławomir

    2016-01-01

    Patent foramen ovale (PFO) is associated with the occurrence of cryptogenic strokes in young patients. Transesophageal echocardiography with contrast is the established standard in PFO diagnostics. We present the case of a 44-year-old female patient after ischemic stroke, in whom PFO was not detected by echocardiography; the defect was ultimately diagnosed by right heart catheterization. PMID:27516797

  10. Searching for patent foramen ovale in a 44-year-old female patient after ischemic stroke - diagnostic problems.

    PubMed

    Zalewska-Adamiec, Małgorzata; Kralisz, Paweł; Bachórzewska-Gajewska, Hanna; Dobrzycki, Sławomir

    2016-06-01

    Patent foramen ovale (PFO) is associated with the occurrence of cryptogenic strokes in young patients. Transesophageal echocardiography with contrast is the established standard in PFO diagnostics. We present the case of a 44-year-old female patient after ischemic stroke, in whom PFO was not detected by echocardiography; the defect was ultimately diagnosed by right heart catheterization. PMID:27516797

  11. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model

    PubMed Central

    Lakomá, Jarmila; Rimondini, Roberto; Ferrer Montiel, Antonio; Donadio, Vincenzo; Liguori, Rocco

    2016-01-01

    Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(−/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive. Here, we have addressed this question and report that small type-C nociceptors from α-GalA(−/0) mice exhibit a significant increase in the expression and function of the TRPV1 channel, a thermoTRP channel implicated in painful heat sensation. Notably, male α-GalA(−/0) mice displayed a ≈2-fold higher heat sensitivity than wild-type animals, consistent with the augmented expression levels and activity of TRPV1 in α-GalA(−/0) nociceptors. Intriguingly, blockade of neuronal exocytosis with peptide DD04107, a process that inhibits among others the algesic membrane recruitment of TRPV1 channels in peptidergic nociceptors, virtually eliminated the enhanced heat nociception of α-GalA(−/0) mice. Together, these findings suggest that the augmented expression of TRPV1 in α-GalA(−/0) nociceptors may underly at least in part their increased heat sensitivity, and imply that blockade of peripheral neuronal exocytosis may be a valuable pharmacological strategy to reduce pain in Fabry disease patients, increasing their quality of life. PMID:27531673

  12. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.

    PubMed

    Lakomá, Jarmila; Rimondini, Roberto; Ferrer Montiel, Antonio; Donadio, Vincenzo; Liguori, Rocco; Caprini, Marco

    2016-01-01

    Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(-/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive. Here, we have addressed this question and report that small type-C nociceptors from α-GalA(-/0) mice exhibit a significant increase in the expression and function of the TRPV1 channel, a thermoTRP channel implicated in painful heat sensation. Notably, male α-GalA(-/0) mice displayed a ≈2-fold higher heat sensitivity than wild-type animals, consistent with the augmented expression levels and activity of TRPV1 in α-GalA(-/0) nociceptors. Intriguingly, blockade of neuronal exocytosis with peptide DD04107, a process that inhibits among others the algesic membrane recruitment of TRPV1 channels in peptidergic nociceptors, virtually eliminated the enhanced heat nociception of α-GalA(-/0) mice. Together, these findings suggest that the augmented expression of TRPV1 in α-GalA(-/0) nociceptors may underly at least in part their increased heat sensitivity, and imply that blockade of peripheral neuronal exocytosis may be a valuable pharmacological strategy to reduce pain in Fabry disease patients, increasing their quality of life. PMID:27531673

  13. HPV strain distribution in patients with genital warts in a female population sample

    PubMed Central

    Boda, Daniel; Neagu, Monica; Constantin, Carolina; Voinescu, Razvan Nicolae; Caruntu, Constantin; Zurac, Sabina; Spandidos, Demetrios A.; Drakoulis, Nikolaos; Tsoukalas, Dimitrios; Tsatsakis, Aristides M.

    2016-01-01

    The incidence of human papillomavirus (HPV) in the human cancer domain is still a subject of intensive study. In this study, we examined cervical swab samples from 713 females with genital warts, and tested the samples for high- and low-risk genital HPV. HPV genotyping was assessed using a Genotyping test that detects HPV by the amplification of target DNA using polymerase chain reaction and nucleic acid hybridization. In total, we detected 37 anogenital HPV DNA genotypes [6, 11, 16, 18, 26, 31, 33, 35, 39, 40, 42, 45, 51, 52, 53, 54, 55, 56, 58, 59, 61, 62, 64, 66, 67, 68, 69, 70, 71, 72, 73 (MM9), 81, 82 (MM4), 83 (MM7), 84 (MM8), IS39 and CP6108] and investigated the incidence of these genotypes in the patients with genital warts. We found differences in the distribution of high-/low-risk strains and the incidence of high-risk strains was found to occur mainly in females under 35 years of age. The data from our study suggest that a detailed oral, rectal and genital identification of high-risk strains should be performed to visualize the entire pattern of possible triggers of carcinogenesis. PMID:27602111

  14. Plasma metabonomics study of first-Episode schizophrenia treated with olanzapine in female patients.

    PubMed

    Qiao, Ying; Zhang, Lei; He, Shen; Wen, Hui; Yu, Yi-Min; Cao, Chun-Hua; Li, Hua-Fang

    2016-03-23

    Schizophrenia is a persistent chronic mental illness with an unknown pathogenic mechanism; no empirical laboratory-based tests are available to support the diagnosis of schizophrenia or to identify biomarkers correlated with the therapeutic effect of olanzapine. For this study, 15 female first-episode, drug-naïve patients with schizophrenia and 15 healthy female volunteers were recruited. Tests for blood glucose and lipids were conducted at baseline and after 4 weeks of treatment with olanzapine. UPLC-MS based metabonomic analysis was performed on both case and control groups to identify biomarkers of schizophrenia at baseline and to explore which biomarkers correlated with the therapeutic effect of olanzapine after a 4-week treatment. Compared with the control group, the case group showed significant changes in plasma metabolites. Thirteen distinct metabolites were identified. Among all the therapeutically effective cases, levels of these metabolites appeared to shift towards the normal trend; 8 of the identified 13 metabolites changed dramatically. The metabolites that we found are potential biomarkers for the diagnosis and treatment of schizophrenia. PMID:26924724

  15. Effects of gyrokinesis exercise on the gait pattern of female patients with chronic low back pain

    PubMed Central

    Seo, Kook-Eun; Park, Tae-Jin

    2016-01-01

    [Purpose] The purpose of the present study was to use kinematic variables to identify the effects of 8/weeks’ performance of a gyrokinesis exercise on the gait pattern of females with chronic low back pain. [Subjects] The subjects of the present study were females in their late 20s to mid 30s who were chronic back pain patients. [Methods] A 3-D motion analysis system was used to measure the changes in their gait patterns between pre and post-gyrokintic exercise. The SPSS 21.0 statistics program was used to perform the paired t-test, to compare the gait patterns of pre-post-gyrokinesis exercise. [Results] In the gait analysis, pre-post-gyrokinesis exercise gait patterns showed statistically significant differences in right and left step length, stride length, right-left step widths, and stride speed. [Conclusion] Gait pattern analysis revealed increases in step length, stride length, and stride speed along with a decrease in step width after 8 weeks of gyrokinesis exercise, demonstrating it improved gait pattern. PMID:27065537

  16. Coping Styles of Female Adolescent Cancer Patients with Potential Fertility Loss

    PubMed Central

    Murphy, Devin; Knapp, Caprice A.; Christie, Juliette; Phares, Vicky; Wells, Kristen J.

    2013-01-01

    Purpose The purpose of this qualitative study was to assess the coping styles of female adolescent cancer patients regarding potential loss of fertility. Expectations and desires for the future, coping styles in typical adolescence, and coping styles when faced with potential loss of fertility due to cancer treatment are discussed. Methods Female adolescents diagnosed with cancer aged 12–18 years at study (N=14) were administered a 10-item values clarification tool to pilot test the readability and relevance of the items on reproductive concerns, followed by a cognitive debriefing interview asking participants how they would respond to each item. These qualitative responses were assessed for coping style type using the constant comparative approach. Results All adolescent participants reported having a strong desire for biological children in the future. Reactions to questions regarding the loss of fertility fell into two categories of coping styles: emotion-focused coping or problem-focused (engagement) coping. Within emotion-focused coping, there were three distinct styles: externalizing attribution style, internalizing attribution style, and repressive adaptation. Problem-focused coping adolescents displayed optimism. Conclusion Successful interventions aimed at promoting adaptive coping styles should seek to uncover adolescents' values about future parenthood and reproduction. Development of an age-appropriate assessment to stimulate dialogue regarding fertility and initiate an adolescent's cognitive processing of potential fertility loss is warranted. PMID:23781403

  17. Isolation and characterization of microsatellite loci in Quercus fabri (Fagaceae).

    PubMed

    Xiao, Z Z; Chen, W W; Bao, W; Wang, R; Li, Y Y

    2016-01-01

    Quercus fabri is a pioneer species of secondary succession in evergreen broadleaved forests in China. In this study, we isolated and developed 12 polymorphic and 2 monomorphic microsatellite loci for Q. fabri using the biotin-streptavidin capture method. We characterized 12 polymorphic loci in 52 individuals from two populations. The number of alleles per locus ranged from 3 to 23. The observed and expected heterozygosities per locus were 0.033-0.773 and 0.138-0.924, respectively. These microsatellite loci will facilitate the studies on genetic variation, mating system, and gene flow of Q. fabri. PMID:27420954

  18. Light- and electron-microscopic histochemistry of Fabry's disease.

    PubMed Central

    Faraggiana, T.; Churg, J.; Grishman, E.; Strauss, L.; Prado, A.; Bishop, D. F.; Schuchman, E.; Desnick, R. J.

    1981-01-01

    A histochemical study was performed on light- and electron-microscopic level in a case of Fabry's disease. The patient underwent kidney transplantation for renal failure and died of heart failure 6 months later. Patient's tissues were studied at the light- and electron-microscopic levels with various embedding and staining techniques for lipids and carbohydrates. Two peroxidase-labeled lectins (from Ricinus communis and from Bandeiraea simplicifolia) known to have affinity for alpha- and beta-D-galactose, were strongly reactive with the storage material on frozen sections. The ultrahistochemical and extraction tests showed that the typical granules had a variable reactivity and morphologic characteristics in different cells, probably reflecting different composition. A small number of typical deposits were also observed in the transplanted kidney. This is the first reported case of recurrence of the storage disease in the allograft. Of interest was also the fact that the patient's blood inhibited normal alpha-galactosidase activity, suggesting a possible inhibitor-related mechanism in the pathogenesis of the recurrence. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:6786101

  19. Spiritual Development and Death Attitude in Female Patients With Type II Diabetes

    PubMed Central

    Nozari, Masoumeh; Khalilian, Alireza; Dousti, Yarali

    2014-01-01

    Objective: The present study aimed to investigate the differences regarding spiritual development dimensions and death attitude profiles, and also to determinate association between them, in patients suffering from type II diabetes. Methods: In a cross-sectional design study, 100 female outpatients who were suffering from type II diabetes were recruited in Imam Khomeini Hospital, Sari, Iran. Data were collected through two questionnaires including the Spiritual Assessment Inventory (SAI) and the Death Attitude Profile-Revised (DAPR). Analysis of the data involved analysis of covariance (ANCOVA) with the Fisher's Least Significant Difference (LSD) as post-hoc test plus the Pearson correlation. Results: There was a statistical significant difference in spiritual development dimensions and death attitude profile. The results showed that spiritual development were significantly associated with some items of death attitude profiles. Conclusion: Awareness of God was suitable in diabetic patients, but the quality of relationship with God indicated spiritually immature. It is necessary to provide instruction to improve patient's death attitude and following health behavior. PMID:25780376

  20. [Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].

    PubMed

    Magot, A; Mercier, S; Péréon, Y

    2015-12-01

    Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset of BMD usually occurs after the age of 12 and wheelchair is required after the age of 16. BMD is characterized by generalized weakness first affecting limb girdle muscles, hypertrophy of the calves and cardiomyopathy in males. Some patients have only mild symptoms such as cramps or elevated serum creatine kinases (SCK) throughout all their lives. SCK levels are usually elevated. Muscle biopsy (immunohistochemistry or immunoblotting) shows a dystrophic pattern with abnormal dystrophin staining. Diagnosis is confirmed by DMD gene sequencing. Deletions or duplications of one or several exons are identified in the majority of cases. A multidisciplinary approach is recommended for the care management of these patients with a particular attention to the cardiomyopathy, which is typically responsible for death but can be prevented by specific treatment. X-linked dilated cardiomyopathies linked to DMD gene are a phenotypic continuum of BMD. Some female carriers of DMD mutations exhibit clinical symptoms of variable severity, often milder and beginning later than in males. The cardiomyopathy is the most frequent feature that should be especially monitored in these patients. Genetic counselling should be systematically proposed. PMID:26773584

  1. Appointments failure among female patients at a dental school clinic in Saudi Arabia.

    PubMed

    Albarakati, Sahar F

    2009-09-01

    The aim of the study was to assess the factors and reasons responsible for failed appointments among female patients attending a dental school clinic. A cross-sectional survey was conducted at the College of Dentistry in Riyadh city on 200 patients who failed to keep their appointments at least one time. The data were collected using a structured, pretested questionnaire through a telephone interview method from January through May 2007. The selected sample was in the age group of fourteen years and older. The response rate was 86 percent. The results illustrated that most of the patients who broke their appointments were married, housewives, above forty years in age, and of low to middle socioeconomic status. It was found that the most common reasons for failed appointments were fasting in the Holy Month of Ramadan (79.1 percent) followed by transportation difficulty (76.2 percent), inconvenient appointment time (65.1 percent), and dissatisfaction of communication with booking area (54.1 percent). PMID:19734254

  2. Sporotrichosis of Maxillary Sinuses in a Middle Aged Female Patient from Rural Area of Eastern India

    PubMed Central

    Das, Saumik; Sinha, Ramanuj; Aggarwal, Neeraj; Chakravorty, Sriparna

    2016-01-01

    Sporotrichosis is commonly a chronic infection caused by Sporothrix schenckii, a saprophytic fungus and is usually limited to cutaneous and subcutaneous tissues. Disseminated systemic, osteoarticular or pulmonary sporotrichosis have been reported but nasal sinusitis by this fungus is extremely infrequent. Earlier report from southern India documented a case of maxillary sinusitis by Sporothrix schenckii. Here we report a similar case of bilateral maxillary sinusitis in a middle aged female from a village of Bihar, a state in eastern India. She underwent endoscopic maxillary sinus surgery for nasal symptoms and diagnosed to have sporotrichotic infection of maxillary sinuses. The diagnosis was done by mycological and histopathological examination and patient improved under antifungal chemotherapy. PMID:27134873

  3. Desmoid tumor of the anterior abdominal wall in female patients: comparison with endometriosis.

    PubMed

    Krentel, H; Tchartchian, G; De Wilde, R L

    2012-01-01

    In female patients presenting a tumor of the lower abdominal wall especially after cesarian section, an endometriotic tumor as well as an aggressive desmoid tumor should be considered. Symptoms in correlation with the monthly period can facilitate the presurgical differentiation between endometriosis and fibromatosis. Ultrasound reveals the typical location of both tumors and its remarkable sonographic appearance. In the clinical practice, the desmoid fibromatosis of the lower abdominal wall is a very rare disease. We present a case of a 25-year-old pregnant and discuss diagnostic and therapeutic options by a PubMed literature review. With the knowledge of the prognosis of the desmoid fibromatosis and the respective treatment options including wait and see, complete surgical resection with macroscopically free margins and adjuvant approaches is essential to avoid further interventions and progression of the locally destructive tumor. PMID:22778752

  4. Desmoid Tumor of the Anterior Abdominal Wall in Female Patients: Comparison with Endometriosis

    PubMed Central

    Krentel, H.; Tchartchian, G.; De Wilde, R. L.

    2012-01-01

    In female patients presenting a tumor of the lower abdominal wall especially after cesarian section, an endometriotic tumor as well as an aggressive desmoid tumor should be considered. Symptoms in correlation with the monthly period can facilitate the presurgical differentiation between endometriosis and fibromatosis. Ultrasound reveals the typical location of both tumors and its remarkable sonographic appearance. In the clinical practice, the desmoid fibromatosis of the lower abdominal wall is a very rare disease. We present a case of a 25-year-old pregnant and discuss diagnostic and therapeutic options by a PubMed literature review. With the knowledge of the prognosis of the desmoid fibromatosis and the respective treatment options including wait and see, complete surgical resection with macroscopically free margins and adjuvant approaches is essential to avoid further interventions and progression of the locally destructive tumor. PMID:22778752

  5. Comprehensive Characterization of Molecular Differences in Cancer between Male and Female Patients.

    PubMed

    Yuan, Yuan; Liu, Lingxiang; Chen, Hu; Wang, Yumeng; Xu, Yanxun; Mao, Huzhang; Li, Jun; Mills, Gordon B; Shu, Yongqian; Li, Liang; Liang, Han

    2016-05-01

    An individual's sex has been long recognized as a key factor affecting cancer incidence, prognosis, and treatment responses. However, the molecular basis for sex disparities in cancer remains poorly understood. We performed a comprehensive analysis of molecular differences between male and female patients in 13 cancer types of The Cancer Genome Atlas and revealed two sex-effect groups associated with distinct incidence and mortality profiles. One group contains a small number of sex-affected genes, whereas the other shows much more extensive sex-biased molecular signatures. Importantly, 53% of clinically actionable genes (60/114) show sex-biased signatures. Our study provides a systematic molecular-level understanding of sex effects in diverse cancers and suggests a pressing need to develop sex-specific therapeutic strategies in certain cancer types. PMID:27165743

  6. Possible Hepatotoxicity Associated With Intravenous Acetaminophen in a 36-Year-Old Female Patient

    PubMed Central

    Lee, Philip J.; Shen, Mark; Wang, Shan; Spiegler, Peter; Caraccio, Thomas; DeMuro, Jonas P.; Malone, Brian

    2015-01-01

    We present a case of a 36-year-old female who came into the emergency department with right-side abdominal pain. She went to the operating room for a diagnostic laparoscopy and appendectomy. She received intravenous (IV) acetaminophen every six hours both preoperatively and postoperatively for pain control. The patient’s aspartate aminotransferase and alanine aminotransferase levels were elevated and peaked at 4,833 and 6,600 IU/L, respectively, from baselines of 14 and 15, respectively, while she was receiving 16 doses of IV acetaminophen. The patient was transferred to a regional liver transplant center for evaluation for a transplant. She was treated with IV N-acetylcysteine and discharged with a normal liver-function test without a transplant. This case report supports the possibility of hepatotoxicity associated with IV acetaminophen. PMID:25673962

  7. Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

    PubMed

    Kleijer, W J; Hu, P; Thoomes, R; Boer, M; Huijmans, J G; Blom, W; Van Diggelen, O P; Seemanova, E; Macek, M

    1990-01-01

    beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of beta-mannosidosis. Further investigation of this gypsy family revealed beta-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. beta-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of beta-mannosidase were found in fibroblasts and/or plasma of the parents and one sister. PMID:2079835

  8. Quality of Life Differences in Female and Male Patients with Fecal Incontinence

    PubMed Central

    Mundet, Lluís; Ribas, Yolanda; Arco, Sandra; Clavé, Pere

    2016-01-01

    Background/Aims To explore and compare quality of life (QoL) differences in female and male patients with fecal incontinence. Methods Ninety-one patients with fecal incontinence (60 women, mean (SD) age 64.13 (9.72) years; 31 men, mean (SD) age 63.61 (13.33) years) were assessed for pathophysiology (anorectal manometry and ultrasound), clinical severity (Wexner and Vaizey scales), QoL (Fecal Incontinence Quality of Life Score [FIQL]) and health status (EQ-5D). Results External and internal anal sphincter impairment rates were 96.5% and 70.2%, respectively, in women, compared to 30% and 43.3% respectively in men (P < 0.05). Clinical severity was similar in both sexes, with mean (SD) Wexner scores of 10.95 (4.35) for women and 9.81 (4.30) for men, and mean (SD) Vaizey scores of 13.27 (4.66) for women and 11.90 (5.22) for men. Scores for women were significantly lower for all FIQL depression and coping subscales (P < 0.001) and the EQ-5D depression subscale (P < 0.01). EQ-5D index was 0.687 (0.20) for women and 0.835 (0.15) for men (P < 0.001). QoL was negatively affected by female gender (−1.336), anxiety/depression (−1.324) and clinical severity (−0.302), whereas age had a positive impact (0.055 per year) (P < 0.01). Conclusions The pathophysiology of fecal incontinence differed between the sexes. For similar severity scores, impact on QoL was higher in women. Gender had the highest impact on QoL compared to other factors. QoL measurements should be part of assessment and treatment protocols. PMID:26486375

  9. Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy

    PubMed Central

    Warnock, David G; Thomas, Christie P; Vujkovac, Bojan; Campbell, Ruth C; Charrow, Joel; Laney, Dawn A; Jackson, Leslie L; Wilcox, William R; Wanner, Christoph

    2015-01-01

    Background Nephropathy is an important feature of classical Fabry disease, which results in alpha-galactosidase A deficiency and cellular globotriaosylceramide accumulation. We report the safety and efficacy of antiproteinuric therapy with ACE inhibitors or angiotensin II receptor blockers (ARBs) in a study of classical Fabry patients receiving recombinant agalsidase-beta therapy. Methods and design The goal was maintenance of urine protein to creatinine ratio (UPCR) <0.5 g/g or a 50% reduction in baseline UPCR for 24 patients at eight study sites. The change in estimated glomerular filtration rate (eGFR) was assessed over 21 months of treatment. Results 18 out of 24 patients achieved the UPCR goal with eGFR slopes that were significantly better than six patients who did not achieve the UPCR goal (−3.6 (−4.8 to −1.1) versus −7.0 (−9.0 to −5.6) mL/min/1.73 m2/year, respectively, p=0.018). Despite achieving the UPCR goal, 67% (12/18 patients) still progressed with an eGFR slope <−2 mL/min/1.73 m2/year. Regression analysis showed that increased age at initiation of agalsidase-beta therapy was significantly associated with worsened kidney outcome. Hypotension and hyperkalaemia occurred in seven and eight patients, respectively, which required modification of antiproteinuric therapy but was not associated with serious adverse events. Conclusions This study documents the effectiveness of agalsidase-beta (1 mg/kg/2 weeks) and antiproteinuric therapy with ACE inhibitors and/or ARB in patients with severe Fabry nephropathy. Patients had preservation of kidney function if agalsidase-beta treatment was initiated at a younger age, and UPCR maintained at or below 0.5 g/g with antiproteinuric therapy. Trial registration number NCT00446862. PMID:26490103

  10. Antihypertensive Drug Use and New-Onset Diabetes in Female Patients with Coronary Artery Disease

    PubMed Central

    Liou, Yi-Sheng; Chen, Hung-Yi; Tien, Lyun; Gu, Yi-Sian; Jong, Gwo-Ping

    2015-01-01

    Abstract Antihypertensives have been linked to new-onset diabetes (NOD) and different classes of antihypertensives may alter the risk for the development of NOD; however, the effect of different antihypertensives on the development of NOD in women with hypertension and coronary artery disease (CAD) has not been well studied. The purpose of this study is to investigate the association between usage of different antihypertensive drugs and the development of NOD in female patients with hypertension and CAD. Data in this retrospective cohort study were obtained from claim forms submitted to the Taiwan Bureau of National Health Insurance in central Taiwan during the period 2006–2011. We estimated the odds ratios (OR) to approximate the relative risk of NOD development associated with antihypertensive drug use. Of the 20,108 female patients with CAD at baseline, 2288 patients developed NOD during the 6-year follow-up. Subjects treated with angiotensin-converting enzyme (ACE) inhibitors (OR, 0.92; 95% confidence interval [CI], 0.84–1.00), angiotensin receptor blockers (OR, 0.92; 95% CI, 0.82–0.99), and alpha-blockers (OR, 0.88; 95% CI, 0.79–0.98) in the adjusted analyses had greater reductions of the risk than among nonusers. Patients who took diuretics (OR, 1.10; 95% CI, 1.01–1.20), beta-blockers (OR, 1.12; 95% CI, 1.04–1.21), and calcium channel blockers (OR, 1.10; 95% CI, 1.02–1.18) were at high risk of developing NOD than nonusers. Vasodilators were not associated with risk of NOD. We conclude that women with hypertension who take ACE inhibitors, angiotensin receptor blockers, and alpha-blockers are at lower risk of NOD and that use of diuretics, beta-blockers, and calcium channel blockers was associated with a significantly increased risk of developing NOD during the 6-year follow-up. PMID:26356715

  11. [The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].

    PubMed

    Mignani, Renzo; Gallieni, Maurizio; Feriozzi, Sandro; Pisani, Antonio; Marziliano, Nicola; Morrone, Amelia

    2015-01-01

    Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is a characterized by the involvement of several systems: renal, neurological, hearth, cochleovestibular and cutaneous systems are the most involved. Despite recent studies have provided new insights in the this disease, there are still lacks and discrepancies among all insiders regarding the diagnosis, clinical and therapeutic management. Enzyme replacement have been demonstrated to improve the course of the disease, especially when the diagnosis is early. There are still some debates on diagnosis and management of patients, in particular in the heterozygote female and the start of enzyme replacement. Thus, an Italian board, composed by nephrologists, cardiologists, genetics, pediatricians and neurologists has been established in order to approve through a consensus a diagnostic and therapeutic Italian management. Authors report the renal clinical and therapeutic management, a useful tool either for expert physicians or for those with a few experience in the diagnosis and management of this disease. PMID:26252265

  12. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.

    PubMed

    Fan, J Q; Ishii, S; Asano, N; Suzuki, Y

    1999-01-01

    Fabry disease is a disorder of glycosphingolipid metabolism caused by deficiency of lysosomal alpha-galactosidase A (alpha-Gal A), resulting in renal failure along with premature myocardial infarction and strokes. No effective treatment of this disorder is available at present. Studies of residual activities of mutant enzymes in many Fabry patients showed that some of them had kinetic properties similar to those for normal alpha-Gal A, but were significantly less stable, especially in conditions of neutral pH (refs. 3-5). The biosynthetic processing was delayed in cultured fibroblasts of a Fabry patient, and the mutant protein formed an aggregate in endoplasmic reticulum, indicating that the enzyme deficiency in some mutants was mainly caused by abortive exit from the endoplasmic reticulum, leading to excessive degradation of the enzyme. We report here that 1-deoxy-galactonojirimycin (DGJ), a potent competitive inhibitor of alpha-Gal A, effectively enhanced alpha-Gal A activity in Fabry lymphoblasts, when administrated at concentrations lower than that usually required for intracellular inhibition of the enzyme. DGJ seemed to accelerate transport and maturation of the mutant enzyme. Oral administration of DGJ to transgenic mice overexpressing a mutant alpha-Gal A substantially elevated the enzyme activity in some organs. We propose a new molecular therapeutic strategy for genetic metabolic diseases of administering competitive inhibitors as 'chemical chaperons' at sub-inhibitory intracellular concentrations. PMID:9883849

  13. Connectivity differences between adult male and female patients with attention deficit hyperactivity disorder according to resting-state functional MRI

    PubMed Central

    Park, Bo-yong; Park, Hyunjin

    2016-01-01

    Attention deficit hyperactivity disorder (ADHD) is a pervasive psychiatric disorder that affects both children and adults. Adult male and female patients with ADHD are differentially affected, but few studies have explored the differences. The purpose of this study was to quantify differences between adult male and female patients with ADHD based on neuroimaging and connectivity analysis. Resting-state functional magnetic resonance imaging scans were obtained and preprocessed in 82 patients. Group-wise differences between male and female patients were quantified using degree centrality for different brain regions. The medial-, middle-, and inferior-frontal gyrus, superior parietal lobule, precuneus, supramarginal gyrus, superior- and middle-temporal gyrus, middle occipital gyrus, and cuneus were identified as regions with significant group-wise differences. The identified regions were correlated with clinical scores reflecting depression and anxiety and significant correlations were found. Adult ADHD patients exhibit different levels of depression and anxiety depending on sex, and our study provides insight into how changes in brain circuitry might differentially impact male and female ADHD patients. PMID:26981099

  14. p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.

    PubMed

    Ozelsancak, Ruya; Uyar, Bulent

    2016-01-01

    BACKGROUND Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. CASE REPORT We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. CONCLUSIONS Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease. PMID:27156739

  15. Fabry-Perot diaphragm fiber-optic sensor.

    PubMed

    Chin, Ken K; Sun, Yan; Feng, Guanhua; Georgiou, George E; Guo, Kangzhu; Niver, Edip; Roman, Harry; Noe, Karen

    2007-11-01

    The general theory of a diaphragm fiber-optic sensor (DFOS) is proposed. We use a critical test to determine if a DFOS is based on Fabry-Perot interference or intensity modulation. By use of the critical test, this is the first design, to the best of our knowledge, of a purely Fabry-Perot DFOS, fabricated with microelectromechanical system technology, and characterized as an audible microphone and ultrasonic hydrophone with orders of improvement in signal-to-noise ratio. PMID:17973004

  16. Fabry's disease: An ultrastructural study of nerve biopsy

    PubMed Central

    Gayathri, N.; Yasha, T. C.; Kanjalkar, Makarand; Agarwal, Santosh; Sagar, B. K. Chandrashekar; Santosh, Vani; Shankar, S. K.

    2008-01-01

    Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease. PMID:19893666

  17. Complete diagnostics and clinical approach for a female patient with unusual glioblastoma: A case study

    PubMed Central

    SAMAL, FILIP; STANEK, LIBOR; FILIP, MICHAL; HANINEC, PAVEL; VÍCHA, ALES; MUSIL, ZDENEK; TESAROVA, PETRA; PETRUZELKA, LUBOS; SPRINGER, DRAHOMIRA; KRALICKOVA, MILENA; KOHOUTOVA, MILADA; ZIMA, TOMAS

    2016-01-01

    The present study reports a case of a 44-year-old female patient with a large frontal lobe tumor who underwent surgery using a modern navigation system SonoWand that combines the advantages of a non-frame navigation system with intraoperative real-time ultrasound imaging. The right frontal lobe tumor consisted of two morphologically different sections. A diffuse astrocytoma grade II and a glioblastoma grade IV were identified. These tumors were relatively substantially separated. A 17 p deletion, including TP53, was detected in a diffuse astrocytoma but not in a glioblastoma. EGFR and MDM2 amplifications were detected only in a glioblastoma. Detection of these amplifications is typical for primary glioblastomas. These findings support our assumption of two independent tumors. The KRAS, BRAF and EGFR gene mutations were also detected in a glioblastoma. Such an accumulation of molecular mutations is rare in one tumor. Following oncological treatment the patient was cared for in the oncological center and survived for 15 months after the surgery without any signs of a disease. This is an unusual case, and to the best of our knowledge, is not frequently published in literature. PMID:27330791

  18. Lipid and protein oxidation in female patients with chronic fatigue syndrome

    PubMed Central

    Tomic, Slavica; Brkic, Snezana; Mikic, Aleksandra Novakov

    2012-01-01

    Introduction Chronic fatigue syndrome (CFS) is a widely recognized problem, characterized by prolonged, debilitating fatigue and a characteristic group of accompanying symptoms, that occurs four times more frequently in women than in men. The aim of the study was to determine the existence of oxidative stress and its possible consequences in female patients with CFS. Material and methods Twenty-four women aged 15-45 who fulfilled the diagnostic criteria for CFS with no comorbidities were recruited and were age matched to a control group of 19 healthy women. After conducting the routine laboratory tests, levels of the lipid oxidation product malondialdehyde (MDA) and protein oxidation protein carbonyl (CO) were determined. Results The CFS group had higher levels of triglycerides (p = 0.03), MDA (p = 0.03) and CO (p = 0.002) and lower levels of HDL cholesterol (p = 0.001) than the control group. There were no significant differences in the levels of total protein, total cholesterol or LDL cholesterol. Conclusions The CFS group had an unfavorable lipid profile and signs of oxidative stress induced damage to lipids and proteins. These results might be indicative of early proatherogenic processes in this group of patients who are otherwise at low risk for atherosclerosis. Antioxidant treatment and life style changes are indicated for women with CFS, as well as closer observation in order to assess the degree of atherosclerosis. PMID:23185200

  19. Prevalence and etiologic agents of female reproductive tract infection among in-patients and out-patients of a tertiary hospital in Benin city, Nigeria

    PubMed Central

    Omoregie, Richard; Egbe, Christopher Aye; Igbarumah, Isaac Ohiorenuan; Ogefere, Helen; Okorie, Evelyn

    2010-01-01

    Background: Reproductive tract infections are public health problems in women of reproductive age and can result in serious consequences if not treated. Aims: To determine the prevalence and causes of reproductive tract infections among in-patients and out-patients attending a tertiary health institution in Benin City. The antimicrobial susceptibility profiles of bacterial agents will also be determined. Patients and Methods: High vaginal swabs or endocervical swabs and blood were collected from 957 patients consisting of 755 out-patients and 202 in-patients. The swabs were processed and microbial isolates identified using standard technique. Disc susceptibility tests were also performed on microbial isolates. The blood samples were used for serological diagnosis of syphilis. Results: There was no significant difference in the prevalence of female reproductive tract infections between in-patients (52.48%) and out-patients (47.02%), although in-patients showed a significantly higher risk of developing mixed infections (in-patients vs. out-patients; 34.91% vs. 22.25%, OR = 1.873 95% CI = 1.169, 3.001; P = 0.01). Candida albicans was the most prevalent etiologic agent among out-patients studied while Staphylococcus aureus was the most prevalent etiologic agent among in-patients. Trichomonas vaginalis was observed only among out-patients. Ceftriaxone, ciprofloxacin and ofloxacin were the most active antibacterial agents. Syphilis was not detected in any patient. Conclusion: An overall prevalence of 48.17% of female reproductive tract infection was observed among the study population. Although there was no significant difference between in-patients and out-patients, in-patients appeared to have 1-3-fold increase risk of developing mixed infections. The most prevalent etiologic agent differs between in-patients and out-patients. Despite the high activity of ceftriaxone, ciprofloxacin and ofloxacin against bacterial isolates from both in-patients and out-patients, prudent

  20. Hypermethylation of FOXP3 Promoter and Premature Aging of the Immune System in Female Patients with Panic Disorder?

    PubMed

    Prelog, Martina; Hilligardt, Deborah; Schmidt, Christian A; Przybylski, Grzegorz K; Leierer, Johannes; Almanzar, Giovanni; El Hajj, Nady; Lesch, Klaus-Peter; Arolt, Volker; Zwanzger, Peter; Haaf, Thomas; Domschke, Katharina

    2016-01-01

    Immunological abnormalities associated with pathological conditions, such as higher infection rates, inflammatory diseases, cancer or cardiovascular events are common in patients with panic disorder. In the present study, T cell receptor excision circles (TRECs), Forkhead-Box-Protein P3 gene (FOXP3) methylation of regulatory T cells (Tregs) and relative telomere lengths (RTLs) were investigated in a total and subsamples of 131 patients with panic disorder as compared to 131 age- and sex-matched healthy controls in order to test for a potential dysfunction and premature aging of the immune system in anxiety disorders. Significantly lower TRECs (p = 0.004) as well as significant hypermethylation of the FOXP3 promoter region (p = 0.005) were observed in female (but not in male) patients with panic disorder as compared to healthy controls. No difference in relative telomere length was discerned between patients and controls, but significantly shorter telomeres in females, smokers and older persons within the patient group. The presently observed reduced TRECs in panic disorder patients and FOXP3 hypermethylation in female patients with panic disorder potentially reflect impaired thymus and immunosuppressive Treg function, which might partly account for the known increased morbidity and mortality of anxiety disorders conferred by e.g. cancer and cardiovascular disorders. PMID:27362416

  1. Integrated Fabry-Perot optical space switches

    NASA Astrophysics Data System (ADS)

    Menard, Michael

    As information technologies are adopted by more people to accomplish a greater variety of tasks, the need for optical telecommunication networks with higher capacity and flexibility grows. In addition to improving throughput by increasing transmission rates and the number of wavelength channels, novel network architectures using optical burst or packet based switching are investigated because they allow a more efficient use of transmission capacity and they enable the reorganisation of wavelength connections according to traffic demands. The implementation of such networks requires fast, broadband, transparent, and scalable optical space switches. Although research on optical space switches has been on going for decades, no solution that meets all of the above requirements has been reported yet. The work presented in this thesis introduces a novel optical space switch configuration based on tunable integrated Fabry-Perot filters working at oblique incidence and investigates their performance. A design method to implement this new switch concept is described and demonstrated with the fabrication and characterisation of optical prototypes. The prototypes are implemented in GaAs/AlGaAs planar waveguides and they are designed to be operated using the electro-optic effect. Deep etching is used to create the switch features and a comprehensive optimization of the waveguide structure is conducted to minimize radiation losses. To maximize the number of wavelength channels that can be controlled with a small refractive index modulation, the switches have a 200 GHz comb frequency response that transmits/reflects one out of every two channels on the ITU 100 GHz grid. Thus, shifting their frequency response by one channel spacing is sufficient to change the state of every channel. Furthermore, four Fabry-Perot cavities are coupled to obtain a flat and wide theoretical passband of more than 50 GHz. A Gaussian beam propagation analysis is performed to determine the minimum beam

  2. Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.

    PubMed

    Caudron, Eric; Prognon, Patrice; Germain, Dominique P

    2015-12-01

    Fabry disease (FD, OMIM#301500) is an X-linked lysosomal storage disorder caused by the functional deficiency of α-galactosidase A, a lysosomal enzyme. A method to screen for FD in large populations has been developed using a fluorometric assay of α-galactosidase A activity in dried blood spots (DBS) on filter paper. However, results can be influenced by quenching of fluorescence by haemoglobin which, together with small sample size, may result in a low light emission signal. An alternative, simple and sensitive fluorometric assay was developed for the determination of α-galactosidase A activity in DBS. The assay uses 4-methylumbelliferyl-α-d-galactose as an artificial substrate. To minimize the risk of false-positives, zinc sulfate was used for protein precipitation to stop the enzymatic reaction and eliminate interfering species (hemoglobin). Samples from 209 individuals (60 hemizygotes, 68 heterozygotes, and 81 controls) were tested to establish reference values for the assay. The mean α-galactosidase A activity of the 81 controls was 9.1 ± 3.3 μmol h(-1) L(-1) (mean ± SD). All 60 hemizygotes affected with FD had AGAL activities below 1.7 μmol h(-1) L(-1) (0.2 ± 0.3 μmol h(-1) L(-1)). For the 68 heterozygous females, AGAL activity ranged from 0 to 12.6 μmol h(-1) L(-1) (3.5 ± 2.7 μmol h(-1) L(-1)). Two-thirds of the female patients could be identified using the enzymatic assay and a cut-off level of 40% of the median control value (<3.4 μmol h(-1) L(-1)). Our fluorometric assay using zinc sulfate protein precipitation was shown to have similar sensitivity and robustness while reducing the risk of false positive results due to quenching of 4-MU fluorescence by haemoglobin. PMID:26520229

  3. Illness perception and fibromyalgia impact on female patients from Spain and the Netherlands: do cultural differences exist?

    PubMed

    Ruiz-Montero, Pedro J; Van Wilgen, C Paul; Segura-Jiménez, Victor; Carbonell-Baeza, Ana; Delgado-Fernández, Manuel

    2015-12-01

    The purpose of this study was to examine the differences in illness perception and overall impact on fibromyalgia females from Spain and the Netherlands. A total of 325 fibromyalgia females from Spain (54.3 ± 7.1 years) and the Netherlands (51.8 ± 7.2 years) participated in the study. Illness perception and impact of fibromyalgia were assessed by the Revised Illness Perception Questionnaire and the Fibromyalgia Impact Questionnaire, respectively. Spanish fibromyalgia females perceived more symptoms related to their fibromyalgia (identity) such as nausea, breathlessness, wheezing or fatigue (P < 0.001) and had greater emotional representation (P < 0.01). Dutch fibromyalgia females experienced less timeline (acute/chronic) and consequences (all, P < 0.05), had a better cyclical timeline, personal control, treatment control and illness coherence (all, P < 0.001). Spanish fibromyalgia females reported higher impact of fibromyalgia than Dutch females (61.2 + 14.8 vs. 54.9 + 16.4, respectively; P < 0.001), but the effect size was small (Cohen's d = 0.41) . Impact of fibromyalgia and negative views of fibromyalgia were higher in Spanish fibromyalgia females, whereas Dutch fibromyalgia females presented higher score of positive beliefs about the controllability of the illness. Psychological interventions which help patients to cope with their illness perception might lead to an improvement of the impact of the disease on fibromyalgia females. PMID:25969339

  4. Enzyme Enhancers for the Treatment of Fabry and Pompe Disease

    PubMed Central

    Lukas, Jan; Pockrandt, Anne-Marie; Seemann, Susanne; Sharif, Muhammad; Runge, Franziska; Pohlers, Susann; Zheng, Chaonan; Gläser, Anne; Beller, Matthias; Rolfs, Arndt; Giese, Anne-Katrin

    2015-01-01

    Lysosomal storage disorders (LSD) are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure. Therapeutic approaches involve enzyme replacement (ERT), which is effective for a substantial fraction of patients. However, there are still concerns about a number of issues including tissue penetrance, generation of host antibodies against the therapeutic enzyme, and financial aspects, which render this therapy suboptimal for many cases. Treatment with pharmacological chaperones (PC) was recognized as a possible alternative to ERT, because a great number of mutations do not completely abolish enzyme function, but rather trigger degradation in the endoplasmic reticulum. The theory behind PC is that they can stabilize enzymes with remaining function, avoid degradation and thereby ameliorate disease symptoms. We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). We discovered that the expectorant Ambroxol when used in conjunction with known PC resulted in a significant enhancement of mutant α-galactosidase A and GAA activities. Rosiglitazone was effective on α-galactosidase A either as a monotherapy or when administered in combination with the PC 1-deoxygalactonojirimycin. We therefore propose both drugs as potential enhancers of pharmacological chaperones in FD and PD to improve current treatment strategies. PMID:25409744

  5. Enzyme enhancers for the treatment of Fabry and Pompe disease.

    PubMed

    Lukas, Jan; Pockrandt, Anne-Marie; Seemann, Susanne; Sharif, Muhammad; Runge, Franziska; Pohlers, Susann; Zheng, Chaonan; Gläser, Anne; Beller, Matthias; Rolfs, Arndt; Giese, Anne-Katrin

    2015-03-01

    Lysosomal storage disorders (LSD) are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure. Therapeutic approaches involve enzyme replacement (ERT), which is effective for a substantial fraction of patients. However, there are still concerns about a number of issues including tissue penetrance, generation of host antibodies against the therapeutic enzyme, and financial aspects, which render this therapy suboptimal for many cases. Treatment with pharmacological chaperones (PC) was recognized as a possible alternative to ERT, because a great number of mutations do not completely abolish enzyme function, but rather trigger degradation in the endoplasmic reticulum. The theory behind PC is that they can stabilize enzymes with remaining function, avoid degradation and thereby ameliorate disease symptoms. We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). We discovered that the expectorant Ambroxol when used in conjunction with known PC resulted in a significant enhancement of mutant α-galactosidase A and GAA activities. Rosiglitazone was effective on α-galactosidase A either as a monotherapy or when administered in combination with the PC 1-deoxygalactonojirimycin. We therefore propose both drugs as potential enhancers of pharmacological chaperones in FD and PD to improve current treatment strategies. PMID:25409744

  6. Long-Term Effects of Incest: Life Events Triggering Mental Disorders in Female Patients with Sexual Abuse in Childhood.

    ERIC Educational Resources Information Center

    Kinzl, Johannes; Biebl, Wilfried

    1992-01-01

    Psychosocial, psychosomatic, and psychodynamic factors were evaluated in 33 female psychiatric patients who had been victims of incest. Sexual abuse experiences in childhood were related to feelings of anxiety, helplessness, and powerlessness, which, with a lack of support from the mother, led to ego weakness, and an autoplastic model of coping…

  7. Pre- and Post-Operative Care With Associated Intra-Operative Techniques for Phalloplasty In Female-to-Male Patients.

    PubMed

    Morrison, Shane D; Perez, Marcelina G; Carter, Cayden K; Crane, Curtis N

    2015-01-01

    Phalloplasty, or creation of the penis, is one of the steps in gender confirming surgery for a female-to-male patient and for males with absence or malformation of the penis. Here, the most common techniques for phalloplasty, along with the pre-operative and post-operative care are discussed. PMID:26298948

  8. Unusual presentation of squamous cell carcinoma in young female patient: A case report and review of literature

    PubMed Central

    Kaur, Jasbir; Singh, Anantpreet; Chopra, Rohit

    2016-01-01

    Oral squamous cell carcinoma is the most common “malignant neoplasm” of epithelial origin usually affecting individuals over 50 years of age. It is rare in patients aged <40 years old. This report describes a case of squamous cell carcinoma involving anterior mandibular alveolar region in a 17-year-old female patient, with no history of deleterious habits. This report focuses on etiological factors, diagnosis and prognosis related to the case. PMID:27194884

  9. Unusual presentation of squamous cell carcinoma in young female patient: A case report and review of literature.

    PubMed

    Kaur, Jasbir; Singh, Anantpreet; Chopra, Rohit

    2016-01-01

    Oral squamous cell carcinoma is the most common "malignant neoplasm" of epithelial origin usually affecting individuals over 50 years of age. It is rare in patients aged <40 years old. This report describes a case of squamous cell carcinoma involving anterior mandibular alveolar region in a 17-year-old female patient, with no history of deleterious habits. This report focuses on etiological factors, diagnosis and prognosis related to the case. PMID:27194884

  10. Web-Based Cognitive Behavioral Therapy for Female Patients With Eating Disorders: Randomized Controlled Trial

    PubMed Central

    de Haan, Hein A; Postel, Marloes G; van der Palen, Job; VanDerNagel, Joanne EL; DeJong, Cornelis AJ

    2015-01-01

    Background Many patients with eating disorders do not receive help for their symptoms, even though these disorders have severe morbidity. The Internet may offer alternative low-threshold treatment interventions. Objective This study evaluated the effects of a Web-based cognitive behavioral therapy (CBT) intervention using intensive asynchronous therapeutic support to improve eating disorder psychopathology, and to reduce body dissatisfaction and related health problems among patients with eating disorders. Methods A two-arm open randomized controlled trial comparing a Web-based CBT intervention to a waiting list control condition (WL) was carried out among female patients with bulimia nervosa (BN), binge eating disorder (BED), and eating disorders not otherwise specified (EDNOS). The eating disorder diagnosis was in accordance with the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and was established based on participants’ self-report. Participants were recruited from an open-access website, and the intervention consisted of a structured two-part program within a secure Web-based application. The aim of the first part was to analyze participant’s eating attitudes and behaviors, while the second part focused on behavioral change. Participants had asynchronous contact with a personal therapist twice a week, solely via the Internet. Self-report measures of eating disorder psychopathology (primary outcome), body dissatisfaction, physical health, mental health, self-esteem, quality of life, and social functioning were completed at baseline and posttest. Results A total of 214 participants were randomized to either the Web-based CBT group (n=108) or to the WL group (n=106) stratified by type of eating disorder (BN: n=44; BED: n=85; EDNOS: n=85). Study attrition was low with 94% of the participants completing the posttest assignment. Overall, Web-based CBT showed a significant improvement over time for eating disorder psychopathology (F 97

  11. Awakening arterial blood and end-tidal concentrations of isoflurane in female surgical patients.

    PubMed

    Lin, Tso-Chou; Lu, Chih-Cherng; Hsu, Che-Hao; Pergolizz, Joseph V; Chang, Cheng-Chang; Lee, Meei-Shyuan; Ho, Shung-Tai

    2016-07-01

    Delayed extubation occurs after isoflurane anesthesia, especially following prolonged surgical duration. We aimed to determine the arterial blood concentrations of isoflurane and the correlation with end-tidal concentrations for predicting emergence from general anesthesia.Thirty-four American Society of Anesthesiologists physical status class I-II gynecologic patients were included. General anesthesia was maintained with a fixed 2% inspiratory isoflurane in 6 L/minute oxygen, which was discontinued after surgery. One milliliter of arterial blood was obtained for the determination of isoflurane concentration by gas chromatography at 20 and 10 minutes before and 0, 5, 10, 15, and 20 minutes after discontinuation, in addition to the time of eye opening to verbal command, defined as awakening. Inspiratory and end-tidal concentrations were simultaneously detected by an infrared analyzer.The mean awakening arterial blood concentration of isoflurane was 0.20%, which was lower than the simultaneous end-tidal concentration 0.23%. The differences between arterial and end-tidal concentrations during emergence fell into an acceptable range (±1.96 standard deviation). After receiving a mean time of 108-minute general anesthesia, the time to eye opening after discontinuing isoflurane was 18.5 minutes (range 11-30, median 18 minutes), without statistical significance with anesthesia duration (P = 0.078) and body mass index (P = 0.170).We demonstrated the awakening arterial blood concentration of isoflurane in female patients as 0.20%. With well-assisted ventilation, the end-tidal concentration could be an indicator for the arterial blood concentration to predict emergence from shorter duration of isoflurane anesthesia. PMID:27472727

  12. Fabry-Perot observations of comet Austin

    NASA Technical Reports Server (NTRS)

    Schultz, David; Scherb, F.; Roesler, F. L.; Li, G.; Harlander, J.; Roberts, T. P. P.; Vandenberk, D.; Nossal, S.; Coakley, M.; Oliversen, Ronald J.

    1990-01-01

    Preliminary results of a program to observe Comet Austin (1990c1) from 16 April to 4 May and from 11 May to 27 May 1990 using the West Auxiliary of the McMath Solar Telescope on Kitt Peak, Arizona were presetned. The observations were made with a 15 cm duel-etalon Fabry-Perot scanning and imaging spectrometer with two modes of operation: a high resolution mode with a velocity resolution of 1.2 km/s and a medium resolution mode with a velocity resolution 10 km/s. Scanning data was obtained with an RCA C31034A photomultiplier tube and imaging data was obtained with a Photometrics LN2 cooled CCD camera with a 516 by 516 Ford chip. The results include: (1) information on the coma outflow velocity from high resolution spectral profiles of (OI)6300 and NH2 emissions, (2) gaseous water production rates from medium resolution observation of (OI)6300, (3) spectra of H2O(+) emissions in order to study the ionized component of the coma, (4) spatial distribution of H2O(+) emission features from sequences of velocity resolved images (data cubes), and (5) spatial distribution of (OI)6300 and NH2 emissions from medium resolution images. The field of view on the sky was 10.5 arcminutes in diameter. In the imaging mode the CCD was binned 4 by 4 resulting in 7.6 sec power pixel and a subarray readout for a field of view of 10.5 min.

  13. The GREGOR Fabry-Pérot Interferometer

    NASA Astrophysics Data System (ADS)

    Puschmann, K. G.; Denker, C.; Kneer, F.; Al Erdogan, N.; Balthasar, H.; Bauer, S. M.; Beck, C.; Bello González, N.; Collados, M.; Hahn, T.; Hirzberger, J.; Hofmann, A.; Louis, R. E.; Nicklas, H.; Okunev, O.; Martínez Pillet, V.; Popow, E.; Seelemann, T.; Volkmer, R.; Wittmann, A. D.; Woche, M.

    2012-11-01

    The GREGOR Fabry-Pérot Interferometer (GFPI) is one of three first-light instruments of the German 1.5-meter GREGOR solar telescope at the Observatorio del Teide, Tenerife, Spain. The GFPI uses two tunable etalons in collimated mounting. Thanks to its large-format, high-cadence CCD detectors with sophisticated computer hard- and software it is capable of scanning spectral lines with a cadence that is sufficient to capture the dynamic evolution of the solar atmosphere. The field-of-view (FOV) of 50 arcsec × 38 arcsec is well suited for quiet Sun and sunspot observations. However, in the vector spectropolarimetric mode the FOV reduces to 25 arcsec × 38 arcsec. The spectral coverage in the spectroscopic mode extends from 530-860 nm with a theoretical spectral resolution of R ≈ 250,000, whereas in the vector spectropolarimetric mode the wavelength range is at present limited to 580-660 nm. The combination of fast narrow-band imaging and post-factum image restoration has the potential for discovery science concerning the dynamic Sun and its magnetic field at spatial scales down to ˜50 km on the solar surface.

  14. A Rare Case of an Early Postoperative Obstructive Ileus in a Young Female Patient due to a Residual Trichobezoar Mass

    PubMed Central

    Christopoulos, P.; Ross-Thriepland, S.; McCarthy, H.; Day, C. S.; Sasi, W.

    2016-01-01

    Trichobezoar is a rare cause of small bowel obstruction, whereby a mass forms most commonly in the stomach and duodenum of young females, from ingestion of hair, a condition known as trichophagia. We present a case of recurrent small bowel obstruction due to a residual hair mass that was removed surgically in a young female patient who had a laparotomy and gastrotomy for removal of a large gastric trichobezoar just two weeks prior to the current admission. This case illustrates the importance of a thorough inspection of the whole bowel to ensure that no residual bezoars remain after surgery. PMID:27148464

  15. The effects of laparoscopic sleeve gastrectomy on head, neck, shoulder, low back and knee pain of female patients

    PubMed Central

    Çakır, Tuğrul; Oruç, Mehmet Tahir; Aslaner, Arif; Duygun, Fatih; Yardımcı, Erdem Can; Mayir, Burhan; Bülbüller, Nurullah

    2015-01-01

    As the rise on the prevalence of obesity, it is related with physical impairment of joints, especially in the lumbar spine and knee joints. Losing body weight can reduce or eliminate pain of head, neck, shoulder, lumbar spine and knees. By performing a laparoscopic bariatric surgery we demonstrated a significant improvement on the pain by body weight reduction. In this study we aimed to explore the efficacy and safety of Laparoscopic Sleeve Gastrectomy (LSG) on the relief of pain on head and neck, shoulder, low back and knee among the severely morbid obese female patients. A total of 39 morbidly obese female patients who underwent LSG for morbid obesity were included in this study. Body weight, height, body mass index (BMI), head and neck, shoulder, low back and knee pain intensity were measured with Visual Analog Scale (VAS) before and after LSG at the 6th month. 39 morbidly obese female patients were enrolled to this study. The mean age of the patients was 37.69 ± 11.33 years. Preoperative and postoperative body weights were 127.3 kg and 91.21 kg, respectively. Mean height was 165.23 ± 5.78 cm. Preoperative and postoperative BMIs were 46.49 kg/m2 and 32.33 kg/m2, respectively. A significant correlation between preoperative and postoperative parameters was found according to BMI. Our data showed that LSG is an efficient and safe procedure on severely obese patients and showed a predictive remission of head and neck, shoulder, low back and knee pain intensity of female patients by analyzing with VAS during the first 6 months. PMID:25932217

  16. Agalsidase alfa: a review of its use in the management of Fabry disease.

    PubMed

    Keating, Gillian M

    2012-10-01

    The enzyme replacement therapy agalsidase alfa (Replagal®) has an amino acid sequence identical to that of native α-galactosidase A; intravenous agalsidase alfa 0.2 mg/kg every other week is indicated for the long-term treatment of patients with confirmed Fabry disease. This article reviews the efficacy and tolerability of agalsidase alfa in patients with Fabry disease, as well as summarizing its pharmacologic properties. Agalsidase alfa had beneficial effects in adult men with Fabry disease, according to the results of two randomized, double-blind, placebo-controlled, 6-month trials (n = 15 and 26). For example, left ventricular mass index was reduced to a significantly greater extent with agalsidase alfa than with placebo. Although the change in myocardial globotriaosylceramide content (primary endpoint in one study) did not significantly differ between agalsidase alfa and placebo recipients, the change in the Brief Pain Inventory (BPI) 'pain at its worst' score (reflecting neuropathic pain while without pain medications; primary endpoint in the second study) was improved to a significantly greater extent with agalsidase alfa than with placebo. In addition, the change in creatinine clearance, but not inulin clearance, significantly favored agalsidase alfa versus placebo recipients. Abnormalities in functional cerebral blood flow and cerebrovascular responses were also reversed with agalsidase alfa therapy. In extensions of these placebo-controlled trials, the reduction in left ventricular mass and improvements in BPI pain scores were maintained after longer-term agalsidase alfa therapy. The significant decline in estimated glomerular filtration rate (eGFR) seen after 48 months' agalsidase alfa treatment was mainly driven by a marked decline in eGFR seen in four patients with stage 3 chronic kidney disease at baseline (although the progression of decline appeared slower than that seen in historic controls); renal function appeared stable in patients with

  17. Patient-specific FDG dosimetry for adult males, adult females, and very low birth weight infants

    NASA Astrophysics Data System (ADS)

    Niven, Erin

    Fluorodeoxyglucose is the most commonly used radiopharmaceutical in Positron Emission Tomography, with applications in neurology, cardiology, and oncology. Despite its routine use worldwide, the radiation absorbed dose estimates from FDG have been based primarily on data obtained from two dogs studied in 1977 and 11 adults (most likely males) studied in 1982. In addition, the dose estimates calculated for FDG have been centered on the adult male, with little or no mention of variations in the dose estimates due to sex, age, height, weight, nationality, diet, or pathological condition. Through an extensive investigation into the Medical Internal Radiation Dose schema for calculating absorbed doses, I have developed a simple patient-specific equation; this equation incorporates the parameters necessary for alterations to the mathematical values of the human model to produce an estimate more representative of the individual under consideration. I have used this method to determine the range of absorbed doses to FDG from the collection of a large quantity of biological data obtained in adult males, adult females, and very low birth weight infants. Therefore, a more accurate quantification of the dose to humans from FDG has been completed. My results show that per unit administered activity, the absorbed dose from FDG is higher for infants compared to adults, and the dose for adult women is higher than for adult men. Given an injected activity of approximately 3.7 MBq kg-1, the doses for adult men, adult women, and full-term newborns would be on the order of 5.5, 7.1, and 2.8 mSv, respectively. These absorbed doses are comparable to the doses received from other nuclear medicine procedures.

  18. Infected foot ulcers in male and female diabetic patients: a clinico-bioinformative study

    PubMed Central

    2010-01-01

    Background The study aimed at (i) characterizing the mode of transmission of blaCTX-M and blaTEM-1 among extended-spectrum-β-lactamase (ESBL)-producing Escherichia coli strains isolated from infected diabetic foot ulcers, and (ii) identifying the risk factors for "sex-associated multidrug resistant Gram-negative bacterial (MDRGNB)-infection status" of the ulcers. Methods Seventy-seven diabetic patients having clinically infected foot ulcers were studied in a consecutive series. The E. coli strains isolated from the ulcers were screened for blaCTX-M, blaTEM-1, armA, rmtA and rmtB during the 2-year study-period. PCR amplified blaCTX-M genes were cloned and sequenced. Enterobacterial repetitive intergenic consensus (ERIC)-PCR was used for the analysis of genetic relatedness of the ESBL-producers. Risk factors for "sex-associated MDRGNB-infection status" of ulcers were assessed. Modeling was performed using Swiss-Model-Server and verified by Procheck and verify3D programmes. Discovery Studio2.0 (Accelrys) was used to prepare Ramachandran plots. Z-scores were calculated using 'WHAT IF'-package. Docking of cefotaxime with modeled CTX-M-15 enzyme was performed using Hex5.1. Results Among 51 E. coli isolates, 14 (27.5%) ESBL-producers were identified. Only 7 Class1 integrons, 2 blaCTX-M-15, and 1 blaTEM-1 were detected. Ceftazidime and cefotaxime resistance markers were present on the plasmidic DNA of both the blaCTX-M-15 positive strains and were transmissible through conjugation. The residues Asn132, Glu166, Pro167, Val172, Lys234 and Thr235 of CTX-M-15 were found to make important contacts with cefotaxime in the docked-complex. Multivariate analysis proved 'Glycemic control at discharge' as the single independent risk factor. Conclusions Male diabetic patients with MDRGNB-infected foot ulcers have poor glycemic control and hence they might have higher mortality rates compared to their female counterparts. Plasmid-mediated conjugal transfer, albeit at a low frequency

  19. Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.

    PubMed

    Lavoie, Pamela; Boutin, Michel; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity. Currently, globotriaosylsphingosine (lyso-Gb3 ) and globotriaosylceramide (Gb3 ) are used as biomarkers to diagnose and monitor Fabry patients. However, recent metabolomic studies have shown that several glycosphingolipids are also elevated in biological fluids of affected patients and may be related to disease manifestations. This unit describes a multiplex methodology targeting the analysis of urinary lyso-Gb3 and seven structurally related analogs. A solid-phase extraction process is performed, then lyso-Gb3 and its analogs are analyzed simultaneously with an internal standard by ultra-performance liquid chromatography (UPLC) coupled to a tandem mass spectrometry (MS/MS) system. This methodology can be useful for the diagnosis of Fabry patients, including patients with cardiac variant mutations, but also to monitor the efficacy of therapeutic interventions, considering that lyso-Gb3 analogs are more elevated than lyso-Gb3 itself in urine. © 2016 by John Wiley & Sons, Inc. PMID:27367162

  20. The South Pole Imaging Fabry Perot Interferometer (SPIFI)

    NASA Technical Reports Server (NTRS)

    Stacey, G. J.; Bradford, C. M.; Swain, M. R.; Jackson, J. M.; Bolato, A. D.; Davidson, J. A.; Savage, M.

    1996-01-01

    The design and construction of the South Pole imaging Fabry-Perot interferometer (SPIFI) is reported. The SPIFI is a direct detection imaging spectrometer for use in the far infrared and submillimeter bands accessible to the 1.7 m telescope at the South Pole, and in the submillimeter bands accessible to the 15 m James Clerk Maxwell Telescope (JCMT), HI. It employs a 5 x 5 silicon bolometer array and three cryogenic Fabry Perot interferometers in series in order to achieve velocity resolutions of between 300 km/s and 30 km/s over the entire field of view with a resolution of up to 1 km/s at the center pixel. The scientific justification for the instrument is discussed, considering the spectral lines available to SPIFI. The optical path, the cryogenic Fabry-Perot, the adiabatic demagnetization refrigerator and the detector array are described. The instrument's sensitivity is presented and compared with coherent systems.

  1. Confocal Fabry-Perot interferometer for frequency stabilization of laser

    NASA Astrophysics Data System (ADS)

    Pan, H.-J.; Ruan, P.; Wang, H.-W.; Li, F.

    2011-02-01

    The frequency shift of laser source of Doppler lidar is required in the range of a few megahertzs. To satisfy this demand, a confocal Fabry-Perot (F-P) interferometer was manufactured as the frequency standard for frequency stabilization. After analyzing and contrasting the center frequency shift of confocal Fabry-Perot interferometers that are made of three different types of material with the change of temperature, the zerodur material was selected to fabricate the interferometer, and the cavity mirrors were optically contacted onto the end of spacer. The confocal Fabry-Perot interferometer was situated within a double-walled chamber, and the change of temperature in the chamber was less than 0.01 K. The experimental results indicate that the free spectral range is 500 MHz, the full-width at half maximum is 3.33 MHz, and the finesse is 150.

  2. Design and Fabrication of a Fabry-Perot Electrooptic Modulator

    NASA Technical Reports Server (NTRS)

    Banks, C.; Yelleswarapu, C.; Sharma, A.; Frazier, D.; Penn, B.; Abdeldayem, H.; Geveden, Rex D. (Technical Monitor)

    2001-01-01

    The research to design a Fabry-Perot electrooptic modulator with an intracavity electrooptically active organic material is based on the initial results of Wang et. al. [1] using poled polymer thin films. The main feature of the proposed device is the observation that in traditional electrooptic modulators like a Pockels cell, it requires few kilovolts of driving voltage to cause a 3 dB modulation even in high figure-of-merit electrooptic. materials like LiNbO3. The driving voltage for the modulator can be reduced to as low as 10 volts by introducing the electrooptic material inside the resonant cavity of a Fabry-Perot modulator. This is because the transmission of the Fabry-Perot cavity varies nonlinearly with the change of refractive index or phase of light due to applied electric field. We describe in this report the progress made so far in the design and fabrication of the proposed device.

  3. Design and Fabrication of a Fabry-Perot Electrooptic Modulator

    NASA Technical Reports Server (NTRS)

    Banks, C.; Yelleswarapu, C.; Sharma, A.; Frazier, D.; Penn, B.; Abdeldayem, H.; Rose, M. Franklin (Technical Monitor)

    2001-01-01

    The research to design a Fabry-Perot electrooptic modulator with an intracavity electrooptically active organic material is based on the initial results of Wang et. al. using poled polymer thin films. The main feature of the proposed device is the observation that in traditional electrooptic modulators like a Pockels cell, it requires few kilovolts of driving voltage to cause a 3 dB modulation even in high figure-of-merit electrooptic materials like LiNbO3. The driving voltage for the modulator can be reduced to as low as 10 volts by introducing the electrooptic material inside the resonant cavity of a Fabry-Perot modulator. This is because the transmission of the Fabry-Perot cavity varies nonlinearly with the change of refractive index or phase of light due to applied electric field. We describe in this report the progress made so far in the design and fabrication of the proposed device.

  4. Fabry Disease – Current Treatment and New Drug Development

    PubMed Central

    Motabar, Omid; Sidransky, Ellen; Goldin, Ehud; Zheng, Wei

    2010-01-01

    Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease. PMID:21127742

  5. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

    PubMed

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-07-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  6. Atypical patterns of cardiac involvement in Fabry disease.

    PubMed

    Coughlan, J J; Elkholy, K; O'Brien, J; Kiernan, T

    2016-01-01

    A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994. ECG showed sinus rhythm, shortened PR interval, widespread t wave inversion, q waves in the lateral leads and left ventricular hypertrophy (LVH). Coronary angiogram showed only mild atheroma. Transthoracic echocardiogram showed anterolateral LVH and reduced left ventricular cavity size in keeping with Fabry cardiomyopathy. Cardiac MRI demonstrated asymmetric hypertrophy with evidence of diffuse myocardial fibrosis in the maximally hypertrophied segments from base to apex with late gadolinium enhancement in the anterior and anteroseptal walls. This was quite an atypical appearance for Fabry cardiomyopathy. This case highlights the heterogeneity of patterns of cardiac involvement that may be associated with this rare X-linked lysosomal disorder. PMID:26989114

  7. Atmospheric temperature sensing with a multiorder Fabry-Perot interferometer.

    PubMed

    Wang, J; Drayson, S R; Hayes, P B

    1989-12-01

    A Fabry-Perot interferometer has a periodic response. By matching the free spectral range of a Fabry-Perot interferometer (FPI) with the period of the CO(2) spectrum, considerable advantages of throughput and spectral resolution can be achieved, leading to high spectral resolution and vertical resolution for atmospheric temperature sounders. In this paper, the concept of a high resolution multiorder Fabry-Perot interferometer using portions of the 15-microm and 4.3-microm bands of CO(2)for the purpose of atmospheric temperature sounding is discussed. Suitable sounding spectral positions, FPI free spectral range, and weighting functions are calculated. An effective spectral resolution of 0.02 cm(-1) can be achieved by the proposed sounder with a FPI finess of ~100 which is within the present state-of-the-art technology in the infrared region, leading to considerable improvement in the vertical resolution of the atmospheric temperature sounder. PMID:20555996

  8. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis

    PubMed Central

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-01-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  9. Nonspecific Effect of Stress on Brain Gray Matter Volume in Drug-naive Female Patients with First Depressive Episode

    PubMed Central

    Zhuo, Chuan-Jun; Bian, Hai-Man; Gao, Yan-Jie; Ma, Xiao-Lei; Ji, Sheng-Zhang; Yao, Meng-Yuan; Zhai, Ning; Sun, Xin-Hai; Ma, Xiao-Yan; Tian, Hong-Jun; Li, Gong-Ying

    2016-01-01

    Background: This study aimed to observe the differences in brain gray matter volume in drug-naive female patients after the first episode of major depression with and without stressful life events (SLEs) before the onset of depression. Methods: Forty-three drug-naive female patients voluntarily participated in the present study after the first major depressive episode. The life event scale was used to evaluate the severity of the impact of SLEs during 6 months before the onset of the major depressive episode. High-field magnetic resonance imaging (MRI) scans were obtained, and the VBM and SPM8 software process were used to process and analyze the MRI. Results: Compared to that in patients without SLEs, the volume of brain gray matter was lower in the bilateral temporal lobe, right occipital lobe, and right limbic lobe in the SLE group. However, the gray matter volume did not differ significantly between the two groups after the application of false discovery rate (FDR) correction. Conclusions: Although the results of the present study suggest the absence of significant differences in brain gray matter volume between female drug-naive patients after the first episode of major depression with and without SLEs after FDR correction, the study provides useful information for exploring the definitive role of stress in the onset of depression. PMID:26831228

  10. Sexual harassment of female chiropractors by their patients: a pilot survey of faculty at the Canadian Memorial Chiropractic College

    PubMed Central

    Gleberzon, Brian; Statz, Rachel; Pym, Matthew

    2015-01-01

    Background: The purpose of this study was to survey a group of female chiropractors and inquire as to whether or not they had been sexually harassed by their patients. Methods: An online questionnaire was emailed via Survey Monkey to 47 female faculty members at the Canadian Memorial Chiropractic College (CMCC). Respondents were asked if they had been sexual harassed and, if so, the characteristics of the incident(s), their response to it, how serious they perceived the problem to be and whether or not they felt prepared to deal with it. Results: Nineteen of 47 questionnaires were completed and returned. Of these 19, eight respondents reported being sexually harassed by a patient (all male), most commonly within the first 5 years of practice and most commonly involving a ‘new’ patient. It was rarely anticipated. The nature of the harassment varied and respondents often ignored the incident. Most respondents perceive this to be a problem facing female chiropractors. Discussion: Although this is the first survey of its kind, this is a significant problem facing other healthcare professionals. Conclusions: Among this group of respondents, sexual harassment by patients was a common occurrence. More training on how to handle it, during either a student’s chiropractic education or offered as a continuing education program, may be warranted. PMID:26136603

  11. Vibration-induced elastic deformation of Fabry-Perot cavities

    SciTech Connect

    Chen Lisheng; Hall, John L.; Ye Jun; Yang Tao; Zang Erjun; Li Tianchu

    2006-11-15

    We perform a detailed numerical analysis of Fabry-Perot cavities used for state-of-the-art laser stabilization. Elastic deformation of Fabry-Perot cavities with various shapes and mounting methods is quantitatively analyzed using finite-element analysis. We show that with a suitable choice of mounting schemes it is feasible to minimize the susceptibility of the resonator length to vibrational perturbations. This investigation offers detailed information on stable optical cavities that may benefit the development of ultrastable optical local oscillators in optical atomic clocks and precision measurements probing the fundamental laws of physics.

  12. CIV Polarization Measurements Using a Vacuum Ultraviolet Fabry Perot

    NASA Technical Reports Server (NTRS)

    West, Edward A.

    2009-01-01

    Marshall Space Flight Center's (MSFC) is developing a Vacuum Ultraviolet (VUV) Fabry Perot that will be launched on a sounding rocket for high throughput, high-cadence, extended field of view CIV (155nm) measurements. These measurements will provide (i) Dopplergrams for studies of waves, oscillations, explosive events, and mass motions through the transition region, and, (ii), polarization measurements to study the magnetic field in the transition region. This paper will describe the scientific goals of the instrument, a brief description of the optics and the polarization characteristics of the VUV Fabry Perot.

  13. Lipiduria--with special relevance to Fabry disease.

    PubMed

    Becker, Gavin J; Nicholls, Kathleen

    2015-11-01

    Examination of the urine under the microscope using polarised light is invaluable for detecting and identifying lipid particles. Attention to the shape of these Maltese cross bearing bodies can distinguish conventional fat particles from Fabry bodies with great sensitivity and specificity across a wide phenotypic spectrum. This could be a cheap and rapid tool for screening subjects suspected of having Fabry disease for renal involvement. It remains to be seen whether there is value in integrating polarised light into automated urine microscopy machines, but potentially this could greatly help the pathologist or nephrologist in identifying unusual urinary particles, and broaden the capacity for larger scale screening. PMID:26124059

  14. Markers of antioxidant defence system and lipid peroxidation in peripheral blood of female patients with chronic idiopathic urticaria.

    PubMed

    Kasperska-Zajac, Alicja; Brzoza, Zenon; Polaniak, Renata; Rogala, Barbara; Birkner, Ewa

    2007-03-01

    Oxidative stress is an important event in lesional skin of patients with chronic idiopathic urticaria (CIU). In the present study, we assessed blood oxidant/antioxidant status of patients suffering from CIU with positive response to autologous serum skin test (ASST) and with negative ASST, to improve our understanding of biological processes and the part of oxidative stress in this disease. Activities of manganese superoxide dismutase (MnSOD), copper-zinc superoxide dismutase (Cu/ZnSOD), glutathione peroxidase (GSH-PX), and catalase (CAT) as indices of enzymatic antioxidant capacity, as well as malondialdehyde (MDA) level as a maker of lipid peroxidation were measured in plasma and erythrocytes from 14 CIU female patients showing positive ASST, 31 CIU female patients with negative ASST and in 19 sex- and age-matched healthy subjects. The antioxidant enzyme activity in plasma and in erythrocytes did not differ significantly among the three groups. Also, the plasma and erythrocytes MDA levels were similar in the three groups. Based on our results, it seems that systemic activity of the enzymatic antioxidants (CuZn/SOD, MnSOD, GSH-Px, and CAT) as well as level of lipid peroxidation determined by MDA may not be increased in the course of immune-inflammatory processes associated with CIU. We also suggest that the systemic oxidant/antioxidant status of CIU patients, showing positive response to ASST, may not be different from that of CIU patients with negative ASST. PMID:17171548

  15. Efficacy of Medications Approved for the Treatment of Alcohol Dependence and Alcohol Withdrawal Syndrome in Female Patients: A Descriptive Review.

    PubMed

    Agabio, Roberta; Pani, Pier Paolo; Preti, Antonio; Gessa, Gian Luigi; Franconi, Flavia

    2016-01-01

    The aim of this study was to evaluate whether the number of women recruited for studies to establish the efficacy of medications approved for treatment of alcohol dependence (AD) and of alcohol withdrawal syndrome (AWS) is sufficient to reveal possible gender differences in the response to these medications and in suggesting the use of different doses in female patients. Our results show that the rates of women recruited for studies evaluating the efficacy of disulfiram (1%), benzodiazepines (3%), and anticonvulsants (13%) were too low to establish possible gender differences. The rates of women recruited for studies evaluating the efficacy of acamprosate (22%), naltrexone (23%), and nalmefene (30%) were higher and allowed evaluation of data obtained for female patients. Women receive medications for treatment of AD and/or AWS for which efficacy has been demonstrated in studies in which men were more largely represented. PMID:26314552

  16. Blood pressure manometer using a twin Bragg grating Fabry-Perot interferometer

    NASA Astrophysics Data System (ADS)

    van Brakel, Adriaan; Swart, Pieter L.; Chtcherbakov, Anatoli A.; Shlyagin, Mikhail G.

    2005-02-01

    We propose the use of optical fiber Bragg gratings in a non-invasive blood pressure waveform monitor. Bragg gratings can be written in a Fabry-Perot interferometric configuration to yield a method of strain measurement that has both a high resolution and a wide unambiguous range. This fiber Bragg grating Fabry-Perot interferometer (FBGI) can be used as a sensor to detect strain resulting from blood pressure applied to the walls of an artery situated near the patient"s skin. Strain measurements taken on the skin surface, typically over the radial artery at the wrist, are encoded as phase shifts of the FBGI signal. These phase shifts may be obtained by the analytic representation of the interferometer signal in the wavelength domain or by Fourier analysis in the frequency domain. For the proof of concept a realistic physical model was constructed to simulate pressure conditions at the actual sensor location. The operation of the device is demonstrated by measurements of pressure-pulse waveforms obtained in real-time. This sensor was also successfully tested on human patients, and these results are also presented. Since it yields continuous readings of blood pressure non-invasively, further application of the optical manometer may yield an alternative to conventional sphygmomanometry.

  17. Anaphylactic shock in a female patient due to a spontaneous rupture of a hepatic hydatid cyst: a case report.

    PubMed

    Horzic, M; Bunoza, D; Maric, K

    1996-01-01

    A 27-year-old female patient, a refugee from Bosnia and Herzegovina, was admitted to our hospital in a state of shock. She developed an anaphylactic reaction. The US and CT of abdomen revealed a spontaneous rupture of a hepatic hydatid cyst. An emergency operative procedure was performed and in the postoperative period she was treated conservatively with albendazol during the next two months. There was no recurrence of the disease. PMID:8975972

  18. Effects of Hatha yoga exercise on plasma malondialdehyde concentration and superoxide dismutase activity in female patients with shoulder pain

    PubMed Central

    Ha, Min-Sung; Kim, Do-Yeon; Baek, Yeong-Ho

    2015-01-01

    [Purpose] The purpose of this study was to analyze the effects of Hatha yoga exercise on plasma malondialdehyde (MDA) concentration and superoxide dismutase (SOD) activity in female patients with shoulder pain. [Subjects] Subjects comprised 20 female patients with shoulder pain. [Methods] Subjects were divided into 2 groups: a Hatha yoga exercise group (n = 10) and a control group that performed no exercise (n = 10). The subjects’ body composition, plasma malondialdehyde concentrations, and superoxide dismutase activities were measured before and after a 16-week Hatha yoga exercise program. [Results] After the 16-week Hatha yoga exercise program, the exercise group had significantly lower plasma MDA concentrations than the control group. In addition, the exercise group had significantly higher plasma SOD activity than the control group. [Conclusions] Hatha yoga exercise improves flexibility, muscle tone and strength, balance, and joint function. Our findings indicate that regular and continuous yoga exercise effectively improved body composition, decrease plasma MDA concentration, and increase plasma SOD activity in female patients with shoulder pain. PMID:26311934

  19. The Effects of VR-based Wii Fit Yoga on Physical Function in Middle-aged Female LBP Patients

    PubMed Central

    Kim, Seong-Sik; Min, Won-Kyu; Kim, Jung-Hee; Lee, Byoung-Hee

    2014-01-01

    [Purpose] The purpose of this research was to determine the effects of a virtual reality-based yoga program on middle-aged female low back pain patients. [Subjects and Methods] Thirty middle-aged female patients who suffered from low back pain were assigned to either a physical therapy program or a virtual reality-based yoga program for a period of four weeks. Participants could check their posture and weight bearing on a monitor as they shifted their weight or changed their postures on a Wii balance board. There were a total of seven exercise programs. A 30-minute, three times per week, virtual reality-based Wii Fit yoga program or trunk stabilizing exercise was performed, respectively. [Results] Repeated-measures analysis of covariance revealed significant differences in between pre- and post-training VAS, algometer, Oswestry low-back pain disability index (ODI), Roland Morris disability questionnaire (RMDQ), and fear avoidance beliefs questionnaire (FBQ) scores. The VAS, algometer, ODI, RMDQ, and FBQ scores showed significant differences in groups. Regarding the effect of time-by-group interaction, there were significant differences in VAS, ODI, ODI, and FBQ scores. [Conclusion] In conclusion, for middle-aged female patients who have low back pain, a virtual reality-based yoga program was shown to have positive effects on physical improvements, and this program can be employed as a therapeutic medium for prevention and cure of low back pain. PMID:24764631

  20. Effectiveness of core muscle strengthening for improving pain and dynamic balance among female patients with patellofemoral pain syndrome

    PubMed Central

    Chevidikunnan, Mohamed Faisal; Al Saif, Amer; Gaowgzeh, Riziq Allah; Mamdouh, Khaled A

    2016-01-01

    [Purpose] Patellofemoral pain syndrome is a frequent musculoskeletal disorder, which can result from core muscles instability that can lead to pain and altered dynamic balance. The objective of this study is to assess the effect of core muscle strengthening on pain and dynamic balance in female patients with patellofemoral pain syndrome. [Subjects and Methods] Twenty female patients with age ranging from 16 to 40 years with patellofemoral pain syndrome were divided into study (N=10) and control (N=10) groups. Both groups were given 4 weeks of conventional physical therapy program and an additional core muscle strengthening for the study group. The tools used to assess the outcome were Visual Analogue Scale and Star Excursion Balance Test. [Results] The results of the study show that participants in the study group revealed a significantly greater improvement in the intensity of pain and dynamic balance as compared to the control group. [Conclusion] Adding a core muscle-strengthening program to the conventional physical therapy management improves pain and dynamic balance in female patients with patellofemoral pain syndrome. PMID:27313363

  1. Random Cross-Sectional Determination of the Level of Awareness Among Female Saudi Patients About Breast Cancer.

    PubMed

    Almutairi, Khalid M; Ahmad, Mohammad; Vinluan, Jason M; Almutairi, Abdulaziz

    2016-03-01

    The purpose of this study was to randomly determine the level of awareness and knowledge among female Saudi patients about the risk factors and symptoms of breast cancer as well as any awareness about the practices for breast cancer self-examination. A random cross-sectional survey was conducted over 4 months at two private medical clinics in Riyadh, Saudi Arabia. The 4-month period was from December 2013 to March 2014. The survey instrument was a questionnaire that was both self-explanatory and user-friendly. Our study subjects included 174 randomly selected Saudi female patients with no medical history of breast cancer. These patients visited these private clinics for medical advice or for consultation on problems unrelated to breasts. Participants' perception of risk factors regarding early menses showed only 47.1 %. The most common risk factor known by the participants was a family history of breast cancer (84 %). The most widely recognized symptoms of breast cancer were occurrence of breast lumps (86.2 %) and breast pain (93.7 %). Awareness of information regarding breast self-examination (BSE) was 81.6 % in general. Many were aware of the opinion that proper and assisted knowledge about BSE can help in early detection of breast cancer. The patients were also aware that BSE is the most widely used method of screening for breast cancer in clinics and hospitals. All the participants showed sufficient knowledge about the risk factors and symptoms of breast cancer. These baseline findings are encouraging for providing more self-explanatory information (to patients) and guidance to health authorities for developing effective breast health care programs in the entire Kingdom for the female population and not only for patients visiting health care clinics for advice on other medical issues. PMID:25631656

  2. Roving females and patient males: a new perspective on the mating strategies of chimpanzees.

    PubMed

    Newton-Fisher, Nicholas E

    2014-05-01

    Mating strategies are sets of decisions aimed at maximizing reproductive success. For male animals, the fundamental problem that these strategies address is attaining mating access to females in a manner that maximizes their chances of achieving paternity. For chimpanzees (Pan troglodytes), despite substantial interest in mating strategies, very little attention has been paid to the most fundamental problem that mating strategies need to solve: finding mates. Only a single model, Dunbar's general model of male mating strategies, exists to explain mate-searching behaviour in chimpanzees. Under this model, males in most populations are regarded as pursuing a 'roving' strategy: searching for and sequestering fertile females who are essentially passive with respect to mate searching. The roving mating strategy is an assumption deeply embedded in the way chimpanzee behaviour is considered; it is implicit in the conventional model for chimpanzee social structure, which posits that male ranging functions both to monitor female reproductive state and to ward these females from other groups of males through collective territoriality: essentially, ranging as mating effort. This perspective is, however, increasingly at odds with observations of chimpanzee behaviour. Herein, I review the logic and evidence for the roving-male mating strategy and propose a novel alternative, a theoretical framework in which roving is a strategy pursued by female chimpanzees in order to engage successfully in promiscuous mating. Males, unable to thwart this female strategy, instead maximise the number of reproductive opportunities encountered by focusing their behaviour on countering threats to health, fertility and reproductive career. Their prolonged grooming bouts are seen, in consequence, as functioning to mitigate the negative impacts of socially induced physiological stress. In this new framework, the roving-male strategy becomes, at best, a 'best of a bad job' alternative for low

  3. Physiologic and thermal responses of male and female patients with multiple sclerosis to head and neck cooling

    NASA Technical Reports Server (NTRS)

    Ku, Y. T.; Montgomery, L. D.; Wenzel, K. C.; Webbon, B. W.; Burks, J. S.

    1999-01-01

    Personal cooling systems are used to alleviate symptoms of multiple sclerosis and to prevent increased core temperature during daily activities. The objective of this study was to determine the thermal and physiologic responses of patients with multiple sclerosis to short-term maximal head and neck cooling. A Life Support Systems, Inc. Mark VII portable cooling system and a liquid cooling helmet were used to cool the head and neck regions of 24 female and 26 male patients with multiple sclerosis in this study. The subjects, seated in an upright position at normal room temperature (approximately 22 degrees C), were cooled for 30 min by the liquid cooling garment, which was operated at its maximum cooling capacity. Oral, right, and left ear temperatures and cooling system parameters were logged manually every 5 min. Forearm, calf, chest, and rectal temperatures, heart rate, and respiration rate were recorded continuously on a U.F.I., Inc. Biolog ambulatory monitor. This protocol was performed during the winter and summer to investigate the seasonal differences in the way patients with multiple sclerosis respond to head and neck cooling. No significant differences were found between the male and female subject group's mean rectal or oral temperature responses during any phase of the experiment. The mean oral temperature decreased significantly (P < 0.05) for both groups approximately 0.3 degrees C after 30 min of cooling and continued to decrease further (approximately 0.1-0.2 degrees C) for a period of approximately 15 min after removal of the cooling helmet. The mean rectal temperatures decreased significantly (P < 0.05) in both male and female subjects in the winter studies (approximately 0.2-0.3 degrees C) and for the male subjects during the summer test (approximately 0.2 degrees C). However, the rectal temperature of the female subjects did not change significantly during any phase of the summer test. These data indicate that head and neck cooling may, in

  4. Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

    PubMed

    Riera, Casandra; Lois, Sergio; Domínguez, Carmen; Fernandez-Cadenas, Israel; Montaner, Joan; Rodríguez-Sureda, Victor; de la Cruz, Xavier

    2015-01-01

    Loss-of-function mutations of the enzyme alpha-galactosidase A (GLA) causes Fabry disease (FD), that is a rare and potentially fatal disease. Identification of these pathological mutations by sequencing is important because it allows an early treatment of the disease. However, before taking any treatment decision, if the mutation identified is unknown, we first need to establish if it is pathological or not. General bioinformatic tools (PolyPhen-2, SIFT, Condel, etc.) can be used for this purpose, but their performance is still limited. Here we present a new tool, specifically derived for the assessment of GLA mutations. We first compared mutations of this enzyme known to cause FD with neutral sequence variants, using several structure and sequence properties. Then, we used these properties to develop a family of prediction methods adapted to different quality requirements. Trained and tested on a set of known Fabry mutations, our methods have a performance (Matthews correlation: 0.56-0.72) comparable or better than that of the more complex method, Polyphen-2 (Matthews correlation: 0.61), and better than those of SIFT (Matthews correl.: 0.54) and Condel (Matthews correl.: 0.51). This result is validated in an independent set of 65 pathological mutations, for which our method displayed the best success rate (91.0%, 87.7%, and 73.8%, for our method, PolyPhen-2 and SIFT, respectively). These data confirmed that our specific approach can effectively contribute to the identification of pathological mutations in GLA, and therefore enhance the use of sequence information in the identification of undiagnosed Fabry patients. PMID:25382311

  5. Anthropometric and craniofacial sexual dimorphism in obstructive sleep apnea patients: is there male-female phenotypical convergence?

    PubMed

    Perri, Rita A; Kairaitis, Kristina; Wheatley, John R; Amis, Terence C

    2015-02-01

    Obstructive sleep apnea (OSA) is more common in men than women. Body size is greater in males (sexual dimorphism), but large body habitus is associated with OSA for both genders. We speculated that male-female phenotypical convergence (reduced sexual dimorphism via identical phenotype acquisition) occurs with OSA and tested hypotheses: (1) phenotypical features pathogenic for OSA differ between OSA and healthy subjects irrespective of gender; and (2) such characteristics exhibit phenotypical convergence. Utilizing an existing database, we calculated male-female (group average) ratios for eight anthropometric and 33 surface cephalometric variables from 104 Caucasian OSA patients [72 males; apnea-hypopnea index (events h(-1) ): males: 42.3 ± 24.7 versus females: 42.6 ± 26.1 (P > 0.9)] and 85 Caucasian, healthy, non-OSA, community volunteers (36 males). Log-transformed data were analysed using a general linear model with post-hoc unpaired t-tests and significance at P < 0.0012 (Bonferroni multiple-comparison correction). OSA patients were older (56.9 ± 14.4 versus 38.0 ± 13.8 years), but there were no within-group gender-based age differences. All anthropometric variables (except height), plus cranial base width, mandibular breadth and retromandibular width diagonal were larger in gender-matched OSA versus healthy comparisons; thus satisfying hypothesis (1). Male-female ratios were mostly >1.0 across groups, but with no significant group × gender interactions no variable satisfied hypothesis (2). Thus, in this exploratory study, OSA patients had gender-common phenotypical differences to healthy subjects, but sexual dimorphism was preserved. Lack of complete phenotypical convergence may indicate gender-based critical phenotype-level attainment for OSA and/or gender-based OSA prevalence arises from factors other than those in this study. PMID:25113616

  6. Profile of female patients seeking in-patient treatment for prescription opioid abuse from a tertiary care drug dependence treatment centre from India

    PubMed Central

    Dayal, Prabhoo; Balhara, Yatan Pal Singh

    2016-01-01

    Background & objectives: There has been a limited focus on prescription drug abuse among women in the country. Choice of psychoactive substance, reasons for initiation and co-occurring disorders have been found to be different among men and women. The current study was aimed at studying the profile of female patients seeking in-patient treatment for prescription drug use over a period of five years at a tertiary care drug dependence treatment centre in India. Methods: Case records of all female patients admitted with substance use disorder at a national level drug dependence treatment centre in north India across five years (between January 2008 and December 2012) were reviewed retrospectively to study their socio-demographic and clinical profile. The information was gathered using a semi-structured proforma and detailed case records. Abstinence, relapse and retention rates were calculated. Results: Over the five years, 31 female patients were admitted with prescription drug abuse. Of them, 12 (39%) used prescription opioids and 11 (36%) used prescription opioid along with benzodiazepines. Commonest prescription opioid was pentazocine used by 87 per cent of the women. Twenty two (71%) women were introduced to opioid by medical practitioners and commonest reason for introduction was pain (among 48%). Common co-occurring psychiatric diagnoses were depressive disorder (26%), cluster B traits/disorder (19%) and somatoform disorder (13%). Eight women did not complete treatment and left against medical advice. Thirteen women were advised maintenance treatment, and 70 per cent of them were retained for at least six months. Interpretation & conclusions: Our findings revealed a link between mental illness, pain and non-medical use of prescription opioids among women. Majority of these women received opioids as a legitimate prescription form physician. Therefore, these legitimate prescribers should be trained for pain management to facilitate proper treatment of pain and to

  7. Evaluation of selenium in biological sample of arsenic exposed female skin lesions and skin cancer patients with related to non-exposed skin cancer patients.

    PubMed

    Kolachi, Nida F; Kazi, Tasneem G; Wadhwa, Sham K; Afridi, Hassan I; Baig, Jameel A; Khan, Sumaira; Shah, Faheem

    2011-08-01

    The antagonistic effects between selenium (Se) and arsenic (As) suggest that low Se status plays an important role in arsenism development. The objective of present study was to assess Se contents in biological samples of As exposed females have skin lesions and cancer with related to non-exposed skin cancer patients. The biological samples (blood and scalp hair) of As exposed group comprises, female skin cancer (ESC) patients admitted in cancer hospitals have skin lesions (ESL) and exposed referents have not both diseases (ER), belongs to As exposed area of Pakistan. For comparative purposes, age matched female skin cancerous patient (RP) and non-cancerous females (NER) belong to non-exposed areas were also selected. The As and Se in acid digests of biological samples were pre-concentrated by complexing with chelating agent (ammonium pyrrolidinedithiocarbamate), and resulted complexes were extracted into non-ionic extractant (Triton X-114), prior to analysis by electrothermal atomic absorption spectrometry. The enhancement factor of about 25 was obtained by pre-concentrating 10 mL of sample solutions. The accuracy of the optimized procedure was evaluated by using certified reference material (BCR 397) with certified values for Se and As and standard addition method at three concentration levels in real samples. No significant differences was observed (p>0.05) when comparing the values obtained by the proposed method, added and certified values of both elements. The biological samples of ESC patients had 2-3 folds higher As and lower Se levels as compared to RP (p<0.001). Understudied exposed referents have high level of As and lower Se contents as compared to referents subjects of non-exposed area (p<0.01). The higher concentration of As and lower levels of Se in biological samples of cancerous patients are consisted with reported studies. PMID:21624640

  8. Silicon Carbide Mounts for Fabry-Perot Interferometers

    NASA Technical Reports Server (NTRS)

    Lindemann, Scott

    2011-01-01

    Etalon mounts for tunable Fabry- Perot interferometers can now be fabricated from reaction-bonded silicon carbide structural components. These mounts are rigid, lightweight, and thermally stable. The fabrication of these mounts involves the exploitation of post-casting capabilities that (1) enable creation of monolithic structures having reduced (in comparison with prior such structures) degrees of material inhomogeneity and (2) reduce the need for fastening hardware and accommodations. Such silicon carbide mounts could be used to make lightweight Fabry-Perot interferometers or could be modified for use as general lightweight optical mounts. Heretofore, tunable Fabry-Perot interferometer structures, including mounting hardware, have been made from the low-thermal-expansion material Invar (a nickel/iron alloy) in order to obtain the thermal stability required for spectroscopic applications for which such interferometers are typically designed. However, the high mass density of Invar structures is disadvantageous in applications in which there are requirements to minimize mass. Silicon carbide etalon mounts have been incorporated into a tunable Fabry-Perot interferometer of a prior design that originally called for Invar structural components. The strength, thermal stability, and survivability of the interferometer as thus modified are similar to those of the interferometer as originally designed, but the mass of the modified interferometer is significantly less than the mass of the original version.

  9. A Fabry-Perot Solid Etalon for Teaching.

    ERIC Educational Resources Information Center

    Bruce, P. J.; And Others

    1986-01-01

    Describes a solid etalon Fabry-Perot interferometer, discussing free spectral range, instrumental finesse, and temperature effects. Provides schematic of temperature control/display circuit. Explains use of 100 millimeter camera lens and 10 power micrometer eyepiece for resolving rings and measure diameters. (JM)

  10. Characterization of a Fabry - Perot - Based electrooptic Modulator

    NASA Technical Reports Server (NTRS)

    Banks, C.; Yelleswarapu, C.; Sharma, A.; Frazier, D.; Penn, B.; Abdeldayem, H.; Rose, M. Franklin (Technical Monitor)

    2000-01-01

    An electrooptic modulator using a thin slice of LiNbO3 within the cavity of a Fabry-Perot interferometer is designed and fabricated. The modulator is operated with 633 nm light from a He-Ne laser. Results related to characterization of this modulator are presented.

  11. A Coaxial Cable Fabry-Perot Interferometer for Sensing Applications

    PubMed Central

    Huang, Jie; Wang, Tao; Hua, Lei; Fan, Jun; Xiao, Hai; Luo, Ming

    2013-01-01

    This paper reports a novel coaxial cable Fabry-Perot interferometer for sensing applications. The sensor is fabricated by drilling two holes half-way into a coaxial cable. The device physics was described. The temperature and strain responses of the sensor were tested. The measurement error was calculated and analyzed. PMID:24212121

  12. Development of the Fabry-Perot Spectrometer Application

    NASA Technical Reports Server (NTRS)

    Browne, Kathryn

    2015-01-01

    Methane is a greenhouse gas with global warming effects 20 times more detrimental than carbon dioxide. Currently, only aircraft missions measure methane and do not provide continuous monitoring, This presentation will cover the Fabry-Perot spectrometer which will provide continuous monitoring of methane. It will also cover the development of the software used to extract and process the data the spectrometer collects.

  13. Calibrating echelle spectrographs with Fabry-Pérot etalons

    NASA Astrophysics Data System (ADS)

    Bauer, F. F.; Zechmeister, M.; Reiners, A.

    2015-09-01

    Context. Over the past decades hollow-cathode lamps have been calibration standards for spectroscopic measurements. Advancing to cm/s radial velocity precisions with the next generation of instruments requires more suitable calibration sources with more lines and fewer dynamic range problems. Fabry-Pérot interferometers provide a regular and dense grid of lines and homogeneous amplitudes, which makes them good candidates for next-generation calibrators. Aims: We investigate the usefulness of Fabry-Pérot etalons in wavelength calibration, present an algorithm to incorporate the etalon spectrum in the wavelength solution, and examine potential problems. Methods: The quasi-periodic pattern of Fabry-Pérot lines was used along with a hollow-cathode lamp to anchor the numerous spectral features on an absolute scale. We tested our method with the HARPS spectrograph and compared our wavelength solution to the one derived from a laser frequency comb. Results: The combined hollow-cathode lamp/etalon calibration overcomes large distortion (50 m/s) in the wavelength solution of the HARPS data reduction software. The direct comparison to the laser frequency comb shows differences of only 10 m/s at most. Conclusions: Combining hollow-cathode lamps with Fabry-Pérot interferometers can lead to substantial improvements in the wavelength calibration of echelle spectrographs. Etalons can provide economical alternatives to the laser frequency comb, especially for smaller projects.

  14. Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.

    PubMed

    Ohshima, T; Schiffmann, R; Murray, G J; Kopp, J; Quirk, J M; Stahl, S; Chan, C C; Zerfas, P; Tao-Cheng, J H; Ward, J M; Brady, R O; Kulkarni, A B

    1999-05-25

    Fabry disease is an X-linked metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide (Gb3). In patients with this disorder, glycolipid deposition in endothelial cells leads to renal failure and cardiac and cerebrovascular disease. Recently, we generated alpha-Gal A gene knockout mouse lines and described the phenotype of 10-week-old mice. In the present study, we characterize the progression of the disease with aging and explore the effects of bone marrow transplantation (BMT) on the phenotype. Histopathological analysis of alpha-Gal A -/0 mice revealed subclinical lesions in the Kupffer cells in the liver and macrophages in the skin with no gross lesions in the endothelial cells. Gb3 accumulation and pathological lesions in the affected organs increased with age. Treatment with BMT from the wild-type mice resulted in the clearance of accumulated Gb3 in the liver, spleen, and heart with concomitant elevation of alpha-Gal A activity. These findings suggest that BMT may have a potential role in the management of patients with Fabry disease. PMID:10339603

  15. An Intervention to Promote the Female Condom to Sexually Transmitted Disease Clinic Patients

    ERIC Educational Resources Information Center

    Artz, Lynn; Macaluso, Maurizio; Kelaghan, Joseph; Austin, Harland; Fleenor, Michael; Robey, Lawrence; Hook, III, Edward W.; Brill, Ilene

    2005-01-01

    This article describes a 1-hour behavioral intervention designed to promote female condoms and safer sex to women at a high risk for sexually transmitted diseases (STDs). The intervention includes a promotional videotape; a skills-oriented counseling session with a nurse clinician; assorted take-home items, including a videotape for men; and free…

  16. Peptide hormones in saliva. I. Insulin in saliva during the oral glucose tolerance test in female patients.

    PubMed

    Simionescu, L; Aman, E; Muşeţeanu, P; Dinulescu, E; Giurcăneanu, M

    1985-01-01

    The radioimmunoassay (RIA) of insulin was performed in the serum and saliva of 27 female patients during the oral glucose tolerance test (OGTT). The patients were divided into two groups: 19 non-diabetic patients and 8 patients diagnosed as impaired glucose tolerance (IGT) disease. In one patient in each group, the OGTT was performed twice at intervals of 3-5 days. The results show that immunoreactive insulin (IRI) is present in saliva and its concentration increases during the glucose stimulation test from 6.48 +/- 1.13 microU/ml (means +/- SEM) in basal conditions at peak values of 45.46 +/- 10.14 microU/ml at 2 hrs after glucose intake. In patients with IGT salivary IRI increases from 5.18 +/- 1.39 microU/ml in basal conditions to peak values of 83.34 +/- 25.85 microU/ml at 3 hrs after glucose administration. Great response variations were observed either inter-individual or intraindividual in both groups of patients. Some patients had unusual high salivary IRI concentration especially in those with gastrointestinal troubles. Further, some hypotheses and experimental models, are advanced, considered useful for the explanation of the physiologic significance of the salivary IRI or of the IRI-like material. PMID:3901231

  17. Prolonged Exposure for Treating PTSD Among Female Methadone Patients Who Were Survivors of Sexual Abuse in Israel.

    PubMed

    Schiff, Miriam; Nacasch, Nitsa; Levit, Shabtay; Katz, Noam; Foa, Edna B

    2015-01-01

    The aims of this pilot study were: (a) to test the feasibility of prolonged exposure (PE) therapy conducted by a social worker staff on female patients in methadone program clinics who were survivors of child sexual abuse or rape and (b) to examine preliminary outcomes of PE on posttraumatic stress disorder (PTSD), depression, and illicit drug use at pre- and posttreatment, and up to 12-month follow-ups. Twelve female methadone patients who were survivors of child sexual abuse or rape diagnosed with PTSD were enrolled in 13-19 weekly individual PE sessions. Assessments were conducted at pre-, mid-, and posttreatment, as well as at 3, 6, and 12-month follow-ups. The treatment outcomes measures included PTSD symptoms, depressive symptoms, and illicit drug use. Ten of the 12 study patients completed treatment. PTSD and depressive symptoms showed significant reduction. No relapse to illicit drug use was detected. These preliminary results suggest that PE may be delivered by methadone social workers with successful outcomes. Further research should test the efficacy of PE among methadone patients in a randomized control trial with standard care as the control condition. PMID:26399489

  18. Importance of Lean Muscle Maintenance to Improve Insulin Resistance by Body Weight Reduction in Female Patients with Obesity

    PubMed Central

    Kurose, Satoshi; Shinno, Hiromi; Cao Thu, Ha; Takao, Nana; Tsutsumi, Hiromi; Kimura, Yutaka

    2016-01-01

    Background It has recently been suggested that skeletal muscle has an important role in insulin resistance in obesity, in addition to exercise tolerance and the fat index. The aim of this study was to identify body composition factors that contribute to improvement of insulin resistance in female patients with obesity who reduce body weight. Methods We studied 92 female obese patients (age 40.9±10.4 years, body mass index 33.2±4.6 kg/m2) who reduced body weight by ≥5% after an intervention program including diet, exercise therapy, and cognitive behavioral therapy. Before and after the intervention, body composition was evaluated by dual-energy X-ray absorptiometry to examine changes in skeletal muscle mass. Homeostasis model assessment of insulin resistance (HOMA-IR) was measured as an index of insulin resistance. Cardiopulmonary exercise was also performed by all patients. Results There were significant improvements in body weight (–10.3%±4.5%), exercise tolerance (anaerobic threshold oxygen uptake 9.1%±18.4%, peak oxygen uptake 11.0%±14.2%), and HOMA-IR (–20.2%±38.3%). Regarding body composition, there were significant decreases in total body fat (–19.3%±9.6%), total fat-free mass (–2.7%±4.3%), and % body fat (–10.1%±7.5%), whereas % skeletal muscle significantly increased (8.9%±7.2%). In stepwise multiple linear regression analysis with change in HOMA-IR as the dependent variable, the change in % skeletal muscle was identified as an independent predictor (β=–0.280, R2=0.068, P<0.01). Conclusion Improvement of insulin resistance in female obese patients requires maintenance of skeletal muscle mass. PMID:27126885

  19. Long-term Outcome of Peripherally Implanted Venous Access Ports in the Forearm in Female Cancer Patients

    SciTech Connect

    Klösges, Laura Meyer, Carsten Boschewitz, Jack Andersson, Magnus; Rudlowski, Christian; Schild, Hans H.; Wilhelm, Kai

    2015-06-15

    PurposeThe aim of this retrospective study was to analyze the long-term outcome of peripherally implanted venous access ports in the forearm at our institution in a female patient collective.MethodsBetween June 2002 and May 2011, a total of 293 female patients with an underlying malignancy had 299 forearm ports implanted in our interventional radiology suite. The mean age of the cohort was 55 ± 12 years (range 26–81 years). The majority of women suffered from breast (59.5 %) or ovarian cancer (28.1 %). Complications were classified as infectious complications, thrombotic and nonthrombotic catheter dysfunction (dislocation of the catheter or port chamber, fracture with/without embolization or kinking of the catheter, port occlusion), and others.ResultsWe analyzed a total of 90,276 catheter days in 248 port systems (47 patients were lost to follow-up). The mean device service interval was 364 days per catheter (range 8–2,132, median 223 days, CI 311–415, SD 404). Sixty-seven early (≤30 days from implantation) or late complications (>30 days) occurred during the observation period (0.74/1,000 catheter days). Common complications were port infection (0.18/1,000 days), thrombotic dysfunction (0.12/1,000 days), and skin dehiscence (0.12/1,000 days). Nonthrombotic dysfunction occurred in a total of 21 cases (0.23/1,000 days) and seemed to cumulate on the venous catheter entry site on the distal upper arm.ConclusionPeripherally implanted venous access ports in the forearm are a safe alternative to chest or upper-arm ports in female oncology patients. Special attention should be paid to signs of skin dehiscence and nonthrombotic dysfunction, especially when used for long-term treatment.

  20. High frequency of the X-chromosome inactivation in young female patients with high-grade glioma

    PubMed Central

    2013-01-01

    Background Gliomas are common tumors and high-grade ones account for 62% of primary malignant brain tumors. Though current evidence have suggested that inherited risks play a role in glioma susceptibility, it was conveyed that glioma was such a complex disease, and the direct genetic contribution to glioma risk factors and its relation to other factors should be discussed more deeply. X-chromosome inactivation (XCI) is the mechanism by which gene dosage equivalence is achieved between female mammals with two X chromosomes and male mammals with a single X chromosome. As skewed XCI has been linked to development of some solid tumors, including ovarian, breast, and pulmonary and esophageal carcinomas, it is challenging to elucidate the relation of skewed XCI to high-grade gliomas development. Objective The present study aimed to determine the general concordance between XCI pattern in blood cells and brain tissues, and SXCI frequencies in female patients with high-grade glioma compared to healthy controls. Methods 1,103 Chinese females without a detectable tumor and 173 female high-grade glioma patients, were detected in the study. Normal brain tissues surrounding the lesions in gliomas were obtained from 49 patients among the 173 ones, with the microdissection using a laser microdissection microscope Genomic DNA was extracted from the peripheral blood cells and the normal brain tissues from the subjects. Exon 1 of androgen receptor (AR) gene was amplified, and its products of different alleles were resolved on denaturing polyacrylamide gels and visualized after silver staining. The corrected ratios (CR) of the products before and after HpaII digestion were calculated. Results Occurrence of SXCI was detected in both the patients and controls at similar frequencies. However, the phenomenon, as defined as CR ≥ 3, was more frequent in the patients aging ≤40 (23.6%) compared to the corresponding reference group (5.1%, P <0.0001). When CR ≥ 10 was adopted

  1. Uterus neuroendocrine tumor - a severe prognostic factor in a female patient with alcoholic cirrhosis undergoing chronic hemodialysis.

    PubMed

    Sinescu, Ruxandra Diana; Niculae, Andrei; Peride, Ileana; Vasilescu, Florina; Bratu, Ovidiu Gabriel; Mischianu, Dan Liviu Dorel; Jinga, Mariana; Checheriţă, Ionel Alexandru

    2015-01-01

    There is increased evidence that end-stage renal disease patients, especially the hemodialyzed population, may present various unexpected forms of complications, contributing to a poor prognosis. Furthermore, neuroendocrine tumors, rarely encountered in daily practice, present in dialyzed individuals can significantly exacerbate the inflammatory condition with negative impact on patients' quality of life. We present an unusual case of uterus neuroendocrine tumor with multiple metastases in a 49-year-old female hemodialyzed patient with a history of alcoholic liver cirrhosis and uterus fibromatous. Multiple endoscopic techniques (e.g., upper endoscopy, colonoscopy, upper and lower echoendoscopy), histological evaluation of biopsy samples from involved areas (the operatory piece) were performed in order to complete and refine the diagnosis. PMID:26193237

  2. Do female patients with nonpathological vaginal discharge need the same evaluation as for Dhat syndrome in males?

    PubMed Central

    Grover, Sandeep; Avasthi, Ajit; Gupta, Sunil; Hazari, Nandita; Malhotra, Nidhi

    2016-01-01

    Aim: The aim of this study was to evaluate the concept of female Dhat syndrome characterized by the complaint of nonpathological vaginal discharge in association with somatic, anxiety, and depressive symptoms. Materials and Methods: A total of 26 female subjects with nonpathological vaginal discharge along with depressive and somatic complaints were assessed on a self-rated questionnaire modified from Comprehensive Questionnaire for Assessment of Dhat Syndrome designed for males. They were also assessed for psychiatric comorbidity as per ICD-10. Results: All female subjects received an ICD-10 psychiatric diagnosis, with somatoform/dissociative disorder (57.7%) being the most common. The mean age of onset of vaginal discharge was 24.6 (standard deviation - 7.0) years, noted every day or for 2–3 times per week by more than two-third of the participants. Two-fifth (61.5%) of the women described it as a milky discharge. The most common reason reported for passage of vaginal discharge was that of urinary infection or problems of urinary tract infections (42.3%) followed by vaginal infection/disease (34.6%). More than half (53.8%) of the subjects considered vaginal discharge to be responsible for weakness in the body, weakness in stamina and thinness of physique, while slightly more than two-third (69.2%) of them reported bodily weakness and sleep disturbances. Overall the clinical picture in females was similar to male patients with Dhat syndrome on most of the account. Conclusions: Subgroup of patients with vaginal discharge attribute their somatic and mental symptoms to the passage of whitish vaginal discharge and are distressed due to the same. The clinical picture is similar to Dhat syndrome in males. There is a need to recognize female variant of Dhat syndrome as a culture-bound syndrome. Identification of the same may help in managing this subgroup of patients seeking help from the gynecologists for their nonpathological vaginal discharge or from mental health

  3. Physical examination of the female cancer patient with sexual concerns: What oncologists and patients should expect from consultation with a specialist.

    PubMed

    Lindau, Stacy Tessler; Abramsohn, Emily M; Baron, Shirley R; Florendo, Judith; Haefner, Hope K; Jhingran, Anuja; Kennedy, Vanessa; Krane, Mukta K; Kushner, David M; McComb, Jennifer; Merritt, Diane F; Park, Julie E; Siston, Amy; Straub, Margaret; Streicher, Lauren

    2016-05-01

    Answer questions and earn CME/CNE Sexual concerns are prevalent in women with cancer or cancer history and are a factor in patient decision making about cancer treatment and risk-reduction options. Physical examination of the female cancer patient with sexual concerns, regardless of the type or site of her cancer, is an essential and early component of a comprehensive evaluation and effective treatment plan. Specialized practices are emerging that focus specifically on evaluation and treatment of women with cancer and sexual function problems. As part of a specialized evaluation, oncologists and their patients should expect a thorough physical examination to identify or rule out physical causes of sexual problems or dysfunction. This review provides oncology professionals with a description of the physical examination of the female cancer patient with sexual function concerns. This description aims to inform anticipatory guidance for the patient and to assist in interpreting specialists' findings and recommendations. In centers or regions where specialized care is not yet available, this review can also be used by oncology practices to educate and support health care providers interested in expanding their practices to treat women with cancer and sexual function concerns. CA Cancer J Clin 2016;66:241-263. © 2016 American Cancer Society. PMID:26784536

  4. Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.

    PubMed

    Qiao, Shu-Kai; Ren, Han-Yun; Ren, Jin-Hai; Guo, Xiao-Nan

    2014-02-01

    Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an intrauterine device. IgG inhibitory antibodies against FVIII were undetected. A compound heterozygote mutation of the FVIII gene (F8) was found in this patient. The p.Val502Asp mutation, which has been reported previously, affects A2 domain function. A novel missense point mutation, p.Met1093Ile, was identified in the B domain. The compound heterozygote mutations in F8, p.Val502Asp and p.Met1093Ile, caused HA in this female patient, with a moderate phenotype. PMID:24317041

  5. Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile

    PubMed Central

    QIAO, SHU-KAI; REN, HAN-YUN; REN, JIN-HAI; GUO, XIAO-NAN

    2014-01-01

    Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an intrauterine device. IgG inhibitory antibodies against FVIII were undetected. A compound heterozygote mutation of the FVIII gene (F8) was found in this patient. The p.Val502Asp mutation, which has been reported previously, affects A2 domain function. A novel missense point mutation, p.Met1093Ile, was identified in the B domain. The compound heterozygote mutations in F8, p.Val502Asp and p.Met1093Ile, caused HA in this female patient, with a moderate phenotype. PMID:24317041

  6. Patients with primary diffuse large B-cell lymphoma of female genital tract have high risk of central nervous system relapse.

    PubMed

    Cao, Xin-xin; Li, Jian; Zhang, Wei; Duan, Ming-hui; Shen, Ti; Zhou, Dao-bin

    2014-06-01

    The objective of this study was to evaluate retrospectively the clinical characteristics, treatments, and outcomes of patients with primary diffuse large B-cell lymphoma (DLBCL) of the female genital tract. The basic characteristics, treatments, and outcomes of six patients diagnosed with primary DLBCL of the female genital tract, including the ovary, uterine cervix, and vagina, treated in our hospital between 2000 and 2012, were analyzed retrospectively. Seven of 323 (2.2 %) newly diagnosed DLBCLs were diagnosed as primary female genital tract DLBCL. Six patients with complete medical data were included in the analysis. The median age at diagnosis was 52.5 years (range 20-65). The presenting symptoms included abnormal vaginal bleeding, increased vaginal discharge, abdominal fullness, and abdominal pain. Two patients had stage IE disease and four patients had stage IIE disease. Treatment included chemotherapy only in five patients, and combined chemotherapy and localized radiation in one patient. After a median follow-up of 58 months, four patients showed relapse in the central nervous system and two had died from progressive disease. The median progression-free survival was 27 months and the median overall survival for this group has not been reached. Patients with primary female genital tract DLBCL may have poor outcomes and a high risk of central nervous system relapse. Central nervous system prophylaxis might be considered in addition to systemic chemotherapy for DLBCL of the female genital tract. PMID:24408160

  7. Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures

    PubMed Central

    Kurian, Sunil M.; Novais, Marta; Whisenant, Thomas; Gelbart, Terri; Buxbaum, Joel N.; Kelly, Jeffery W.; Coelho, Teresa; Salomon, Daniel R.

    2016-01-01

    Background: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies. Endomyocardial biopsies are typically amyloid positive when cardiomyopathy is suspected, but this disease manifestation is generally diagnosed late. Early diagnosis is often difficult because patients exhibit apparent symptoms of polyneuropathy, but have a negative amyloid biopsy. Thus, there is a pressing need for an additional early diagnostic strategy for TTR-aggregation-associated polyneuropathy and cardiomyopathy. Methods and Findings: Global peripheral blood cell mRNA expression profiles from 263 tafamidis-treated and untreated V30M Familiar Amyloid Neuropathy patients, asymptomatic V30M carriers, and healthy, age- and sex-matched controls without TTR mutations were used to differentiate symptomatic from asymptomatic patients. We demonstrate that blood cell gene expression patterns reveal sex-independent, as well as male- and female-specific inflammatory signatures in symptomatic FAP patients, but not in asymptomatic carriers. These signatures differentiated symptomatic patients from asymptomatic V30M carriers with >80% accuracy. There was a global downregulation of the eIF2 pathway and its associated genes in all symptomatic FAP patients. We also demonstrated that the molecular scores based on these signatures significantly trended toward normalized values in an independent cohort of 46 FAP patients after only 3 months of tafamidis treatment. Conclusions: This study identifies novel molecular signatures that differentiate symptomatic FAP patients from asymptomatic V30M carriers as well as affected males and females. We envision using this approach, initially in parallel with amyloid biopsies, to identify individuals who are asymptomatic gene carriers that may convert to FAP patients. Upon further validation

  8. Evaluation of overall setup accuracy and adequate setup margins in pelvic image-guided radiotherapy: Comparison of the male and female patients

    SciTech Connect

    Laaksomaa, Marko; Kapanen, Mika; Tulijoki, Tapio; Peltola, Seppo; Hyödynmaa, Simo; Kellokumpu-Lehtinen, Pirkko-Liisa

    2014-04-01

    We evaluated adequate setup margins for the radiotherapy (RT) of pelvic tumors based on overall position errors of bony landmarks. We also estimated the difference in setup accuracy between the male and female patients. Finally, we compared the patient rotation for 2 immobilization devices. The study cohort included consecutive 64 male and 64 female patients. Altogether, 1794 orthogonal setup images were analyzed. Observer-related deviation in image matching and the effect of patient rotation were explicitly determined. Overall systematic and random errors were calculated in 3 orthogonal directions. Anisotropic setup margins were evaluated based on residual errors after weekly image guidance. The van Herk formula was used to calculate the margins. Overall, 100 patients were immobilized with a house-made device. The patient rotation was compared against 28 patients immobilized with CIVCO's Kneefix and Feetfix. We found that the usually applied isotropic setup margin of 8 mm covered all the uncertainties related to patient setup for most RT treatments of the pelvis. However, margins of even 10.3 mm were needed for the female patients with very large pelvic target volumes centered either in the symphysis or in the sacrum containing both of these structures. This was because the effect of rotation (p ≤ 0.02) and the observer variation in image matching (p ≤ 0.04) were significantly larger for the female patients than for the male patients. Even with daily image guidance, the required margins remained larger for the women. Patient rotations were largest about the lateral axes. The difference between the required margins was only 1 mm for the 2 immobilization devices. The largest component of overall systematic position error came from patient rotation. This emphasizes the need for rotation correction. Overall, larger position errors and setup margins were observed for the female patients with pelvic cancer than for the male patients.

  9. Nevirapine versus efavirenz in 742 patients: no link of liver toxicity with female sex, and a baseline CD4 cell count greater than 250 cells/microl.

    PubMed

    Manfredi, Roberto; Calza, Leonardo

    2006-11-14

    Recent studies have reported increased nevirapine hepatotoxicity in female patients with CD4 lymphocyte counts greater than 250 cells/microl (especially pregnant women). However, our open-label comparison of 742 patients treated with either nevirapine or efavirenz-based HAART as naive patients, experienced subjects, or patients on salvage therapy, found no increased hepatotoxicity in nevirapine-treated subjects, in particular with regard to both sex (females versus males) and T-cell-mediated immunodeficiency (CD4 cell counts above versus below 250 cells/microl). PMID:17086066

  10. Fiber optic, Fabry-Perot high temperature sensor

    NASA Technical Reports Server (NTRS)

    James, K.; Quick, B.

    1984-01-01

    A digital, fiber optic temperature sensor using a variable Fabry-Perot cavity as the sensor element was analyzed, designed, fabricated, and tested. The fiber transmitted cavity reflection spectra is dispersed then converted from an optical signal to electrical information by a charged coupled device (CCD). A microprocessor-based color demodulation system converts the wavelength information to temperature. This general sensor concept not only utilizes an all-optical means of parameter sensing and transmitting, but also exploits microprocessor technology for automated control, calibration, and enhanced performance. The complete temperature sensor system was evaluated in the laboratory. Results show that the Fabry-Perot temperature sensor has good resolution (0.5% of full seale), high accuracy, and potential high temperature ( 1000 C) applications.

  11. Hollow-core fiber Fabry-Perot photothermal gas sensor.

    PubMed

    Yang, Fan; Tan, Yanzhen; Jin, Wei; Lin, Yuechuan; Qi, Yun; Ho, Hoi Lut

    2016-07-01

    A highly sensitive, compact, and low-cost trace gas sensor based on photothermal effect in a hollow-core fiber Fabry-Perot interferometer (FPI) is described. The Fabry-Perot sensor is fabricated by splicing a piece of hollow-core photonic bandgap fiber (HC-PBF) to single-mode fiber pigtails at both ends. The absorption of a pump beam in the hollow core results in phase modulation of probe beam, which is detected by the FPI. Experiments with a 2 cm long HC-PBF with femtosecond laser drilled side-holes demonstrated a response time of less than 19 s and noise equivalent concentration (NEC) of 440 parts-per-billion (ppb) using a 1 s lock-in time constant, and the NEC goes down to 117 ppb (2.7×10-7 in absorbance) by using 77 s averaging time. PMID:27367092

  12. Sexual dysfunction in married female patients with anorexia and bulimia nervosa.

    PubMed

    Simpson, W S; Ramberg, J A

    1992-01-01

    The immediacy of anorexia and bulimia nervosa tends to obscure the adjunct problems of eating-disordered patients. The literature records no data pertaining to the treatment of concomitant psychosexual dysfunctions. The authors report the cases of five young married women referred for psychosexual therapy from eating disorders programs. The therapists found that each of the women was suffering from at least one additional disorder. Basic issues of control, grounded in these patients' early lives, generated intense resistance to treatment. The authors emphasize the need for accelerated research to gather the data from which to develop an effective treatment program for eating-disordered patients with associated sexual dysfunctioning. PMID:1556757

  13. The relationship among compulsive buying, compulsive internet use and temperament in a sample of female patients with eating disorders.

    PubMed

    Claes, Laurence; Müller, Astrid; Norré, Jan; Van Assche, Leen; Wonderlich, Steve; Mitchell, James E

    2012-03-01

    The aim of the present study was to investigate the association among compulsive buying (CB), compulsive internet use (CIU) and reactive/regulative temperament in a sample of 60 female patients with eating disorders. All patients were assessed by means of the Compulsive Buying Scale, the CIU scale, the Eating Disorder Inventory-2, the Behavioral Inhibition System/Behavioral Activation System scales, the Dimensional Assessment of Personality Pathology and the effortful control scale of the Adult Temperament Questionnaire. The results showed a positive association between CB and CIU, both categorized as impulse control disorders, not otherwise specified. Both CB and CIU showed significantly positive correlations with emotional lability, excitement seeking and lack of effortful control (more specifically lack of inhibitory and lack of activation control). The implication of these findings for the treatment of both disorders will be discussed. PMID:21710571

  14. Griseofulvin and/or Terbinafine Induced Toxic Epidermal Necrolysis in an Adult Female Patient - A Case Report.

    PubMed

    Jadeja, Dharamvirsinh; Jaiswal, Chandra S; Panchasra, Ashwin; Tripathi, Chandrabhanu B

    2016-01-01

    An 18 years old female patient, who was taking treatment for tinea cruris developed Toxic Epidermal Necrolysis (TEN) due to therapeutic dose of griseofulvin with concomitant use of terbinafine. Both the drugs were stopped; patient's condition was gradually improved after starting the treatment. As per WHO-UMC causality assessment criteria, association between reaction and drug was possible (for both griseofulvin and terbinafine). Griseofulvin and terbinafine, both are widely used as an oral antifungal agent to treat fungal infections, careful monitoring is required in the initial periods of the treatment to prevent such type of serious adverse drug reaction. We report a case of TEN possibly caused by griseofulvin with concomitant use of terbinafine resulting in diagnostic difficulty. PMID:26695069

  15. A Rare Cause of Acute Kidney Injury in a Female Patient with Breast Cancer Presenting as Renal Colic.

    PubMed

    Jurubita, Roxana; Obrisca, Bogdan; Ismail, Gener

    2016-01-01

    Renal infarction is a rare cause of acute kidney injury which could lead to permanent loss of renal function. A prompt diagnosis is necessary in order to achieve a successful revascularization of the occluded artery. Given the rarity of the disease and the paucity of the reported cases in the previous literature a high index of suspicion must be maintained not only in the classical cardiac sources of systemic emboli (atrial fibrillation, dilated cardiomyopathy, or endocarditis), but also in the situations when a hypercoagulable state is presumed. The unspecific presenting symptoms often mask the true etiology of the patient's complaints. We present here a rare case of renal infarction that occurred in the setting of a hypercoagulable state, in a female patient with a history of breast cancer and documented hepatic metastases. PMID:27293927

  16. A Rare Cause of Acute Kidney Injury in a Female Patient with Breast Cancer Presenting as Renal Colic

    PubMed Central

    2016-01-01

    Renal infarction is a rare cause of acute kidney injury which could lead to permanent loss of renal function. A prompt diagnosis is necessary in order to achieve a successful revascularization of the occluded artery. Given the rarity of the disease and the paucity of the reported cases in the previous literature a high index of suspicion must be maintained not only in the classical cardiac sources of systemic emboli (atrial fibrillation, dilated cardiomyopathy, or endocarditis), but also in the situations when a hypercoagulable state is presumed. The unspecific presenting symptoms often mask the true etiology of the patient's complaints. We present here a rare case of renal infarction that occurred in the setting of a hypercoagulable state, in a female patient with a history of breast cancer and documented hepatic metastases. PMID:27293927

  17. Thyrotoxic autoimmune encephalopathy in a female patient: only partial response to typical immunosuppressant treatment and remission after thyroidectomy.

    PubMed

    Yuceyar, Nur; Karadeniz, Muammer; Erdogan, Mehmet; Copur, Asli; Akgun, Aysegul; Kumral, Emre; Ozgen, Gokhan

    2007-06-01

    Hashimoto's encephalopathy (HE) is a rare immune-mediated encephalopathy developing in patients with high serum concentrations of anti-thyroid antibodies usually in an euthyroid or hypothyroid state. We report a 31-year-old female patient with thyrotoxic HE whose daughter has been followed up with the same diagnosis. Suboptimal response was observed with intravenous methylprednisolone (IVMP), intravenous immunoglobulin (IVIG) and plasmapheresis. Reduction of the anti-thyroid auto-antibody concentrations marked the patient's improvement in each episode. She relapsed under oral immunosuppressive therapy. After removing the thyroid tissue, full recovery has been achieved for the last 18 months. These data may contribute to clarification of the pathogenetic role of anti-thyroid antibodies in HE. Thyroidectomy can be considered as one of the treatment options especially in thyrotoxic HE patients with uncontrolled relapses. Our patient is the first reported HE case with a family history. Genetic background can underlie the etiopathogenesis of HE as is the case in other autoimmune disorders. PMID:17395366

  18. Prevalence and associated factors of mental health problems among monogamous Chinese female patients with sexually transmitted diseases in Hong Kong.

    PubMed

    Mo, Phoenix K H; Gu, Jing; Lau, Joseph T F; You, Hua

    2015-01-01

    Sexually transmitted disease (STD) increases risk of HIV infection and has profound psychological consequences. The present study examined the mental health problems (poor emotional well-being, insomnia, probable depression) and their associated factors among monogamous Chinese female STD patients. A total of 537 Chinese female STD patients who self-reported having had only one male sex partner in the last 12 months were recruited from a STD clinic in Hong Kong. They completed a survey including measures of mental health, STD-related history, perceptions, feelings related to STD infection, and perceptions toward condom use. Results showed that 22% had poor emotional well-being, 25.7% had insomnia, and 43% were probable cases of depression. Unemployment, worsened relationship with partners after STD diagnosis, STD history in last three months, finding STD examinations embarrassing, and feelings of helplessness were significant risk factors for poor emotional well-being and insomnia. Also, unemployment, worsened relationships with partners after STD diagnosis, and perceived high chance of STD in the coming six months were significant risk factors for probable depression. Perceived efficacy of condom use for STD prevention was a significant protective factor against poor emotional well-being and probable depression. Findings suggest that interventions are warranted to improve the mental health among this population. PMID:25369553

  19. Successful Surgical Management of Giant Condyloma Acuminatum (Buschke Lowenstein Tumor) in the Urethra of a Female Patient: A Case Report

    PubMed Central

    Nordsiek, Michael; Ross, Curtis; Metro, Michael

    2015-01-01

    The Buschke-Lowenstein tumor (BLT) is a slow-growing, locally destructive verrucous plaque that typically appears on the penis but may occur elsewhere in the anogenital region. It most commonly is considered to be a regional variant of verrucous carcinoma. It is rare but accounts for 5-24% of all penile cancers. It can also affect the perineum and other portions of the genitalia. It was first described by Buschke and Löwenstein in 1925, and is also known as giant condyloma acuminatum (GCA). Regardless of the treatment modality, careful follow-up is recommended because of the high risk of recurrence and the possibility for malignant transformation in 30-56% of patients. We present a case of a 47-year-old Hispanic female that presented to the urology clinic for dysuria and upon work-up was found to have a GCA. GCA typically affects the penis, although the perianal region, vulva, vagina, rectum, scrotum, perineum and bladder may be involved. To date, we believe this is the only reported case of GCA in the urethra of a female patient with sparing of the bladder. This lesion was successfully removed with wide local excision. We believe that further studies are needed to define this disease, identify its pathogenesis, and the most successful treatment protocol. PMID:26195964

  20. Georgia Institute of Technology Fabry-Perot measurements

    NASA Astrophysics Data System (ADS)

    1991-10-01

    The Fabry-Perot cavity and its implementation to carry out Fourier Transform Spectroscopy (FTS) are detailed. Synthesized sources are used to scan frequency from 26 to 100 GHz for recording of data. Measured data for rexolite 1422 and Corning 7940 is presented. Dielectric constant and loss tangent accuracies are restricted to plus or minus 0.005 and 0.0001 respectively. These error bars are dominated by variations observed in the sample thickness.

  1. Iron Deficiency in Patients with Nonalcoholic Fatty Liver Disease is Associated with Obesity, Female Sex, and Low Serum Hepcidin

    PubMed Central

    Siddique, Asma; Nelson, James E.; Aouizerat, Bradley; Yeh, Matthew M.; Kowdley, Kris V.

    2014-01-01

    Background & Aims Iron deficiency is often observed in obese individuals. The iron regulatory hormone hepcidin is regulated by iron and cytokines IL6 and IL1β. We examine the relationship between obesity, circulating levels of hepcidin and IL6 and IL1β, and other risk factors in patients with non-alcoholic fatty liver disease (NAFLD) with iron deficiency. Methods We collected data on 675 adult subjects (>18 y old) enrolled in the Nonalcoholic Steatohepatitis Clinical Research Network. Subjects with transferrin saturation <20% were categorized as iron deficient, whereas those with transferrin saturation ≥20% were classified as iron normal. We assessed clinical, demographic, anthropometric, laboratory, dietary, and histologic data from patients, as well as serum levels of hepcidin and cytokines IL6 and IL1β. Univariate and multivariate analysis were used to identify risk factors for iron deficiency. Results One third of patients (231/675; 34%) were iron deficient. Obesity, diabetes, and metabolic syndrome were more common in subjects with iron deficiency (P<.01), compared with those that were iron normal. Serum levels of hepcidin were significantly lower in subjects with iron deficiency (61±45 vs 81±51 ng/mL; P<.0001). Iron deficiency was significantly associated with female sex, obesity, increased body mass index and waist circumference, presence of diabetes, lower alcohol consumption, Black or American Indian/Alaska Native race (P≤.018), and increased levels of IL6 and IL1β (6.6 vs 4.8 for iron normal; P≤.0001 and 0.45 vs 0.32 for iron normal; P≤.005). Conclusion Iron deficiency is prevalent in patients with NAFLD and associated with female sex, increased body mass index, and non-white race. Serum levels of hepcidin were lower in iron-deficient subjects, reflecting an appropriate physiological response to decreased circulating levels of iron, rather than a primary cause of iron deficiency in the setting of obesity and NAFLD. PMID:24269922

  2. Fabry-Perot interferometer utilized for displacement measurement in a large measuring range

    SciTech Connect

    Wang, Yung-Cheng; Shyu, Lih-Horng; Chang, Chung-Ping

    2010-09-15

    The optical configuration of a Fabry-Perot interferometer is uncomplicated. This has already been applied in different measurement systems. For the displacement measurement with the Fabry-Perot interferometer, the result is significantly influenced by the tilt angles of the measurement mirror in the interferometer. Hence, only for the rather small measuring range, the Fabry-Perot interferometer is available. The goal of this investigation is to enhance the measuring range of Fabry-Perot interferometer by compensating the tilt angles. To verify the measuring characteristic of the self-developed Fabry-Perot interferometer, some comparison measurements with a reference standard have been performed. The maximum deviation of comparison experiments is less than 0.3 {mu}m in the traveling range of 30 mm. The experimental results show that the Fabry-Perot interferometer is highly stable, insensitive to environment effects, and can meet the measuring requirement of the submicrometer order.

  3. Biomedical practices from a patient perspective. Experiences of Polish female migrants in Barcelona, Berlin and London.

    PubMed

    Main, Izabella

    2016-08-01

    This paper focuses on the diversity in patients' experience of bio-medicine and contrasts it with the normative view characteristic of health professionals. Ethnographic fieldwork among Polish migrant women in London, Barcelona and Berlin included interviews about their experiences with local healthcare and health professionals. Themes drawn from the narratives are differences between the cities in terms of communication between patients and health professionals, respect for patients' choices and dignity, attitudes to pregnancy and birth (different levels of medicalization), and paediatric care. It is argued that patients continuously negotiate among their own views and expectations based on previous experiences and knowledge from personal communication; internet forums and publications; and the offer of medical services in the countries of their settlement. Patients experience pluralism of therapeutic traditions within and outside bio-medicine. In turn, representatives of bio-medicine are rarely aware of other medical practices and beliefs and this leads to various misunderstandings. By highlighting the pluralism of medical practices in European countries and the increasing mobility of patients, this case study has useful implications for medical anthropologists and health professionals in a broader Western context, such as raising sensitivity to different communication strategies and a diversity of curing traditions and expectations. PMID:27258327

  4. Study of Adverse Effect Profile of Parenteral Zoledronic Acid in Female Patients with Osteoporosis

    PubMed Central

    Kotian, Prem; Sreenivasan, Sushanth

    2016-01-01

    Introduction Osteoporosis is still a under recognized entity in the population. Osteoporosis-related fractures can be prevented if people at risk can be screened, diagnosed and treated early. Bisphosphonates remain the mainstay of osteoporosis treatment as they have multimodal action. Oral bisphosphonate therapy has, significant gastrointestinal side effects leading to noncompliance. Of late parenteral Zoledronic Acid is being used as once or twice yearly infusion for the treatment of osteoporosis. Aim Our article studies the side effect profile and tolerability of parenteral Zoledronic Acid, one of the most potent bisphosphonate used in clinical practice in patients with osteoporosis. Materials and Methods This study was done in KMC hospitals where 49 patients diagnosed with osteoporosis were included for the study. After obtaining a written informed consent each patient received one infusion of 5 mg Zoledronic Acid as per standard treatment protocol. Patient was monitored for clinical improvement and development of any adverse effects. Conclusion In our study all subjects reported significant pain relief after infusion of Zoledronic Acid. Zoledronic Acid had very few serious adverse effects that can be prevented through pre-infusion screening, maintaining good hydration and careful patient monitoring. In our population the patients only experienced mild symptoms of pyrexia, arthralgia myalgia and influenza like symptoms which resolved with symptomatic treatment. PMID:26894105

  5. [Female spouses of cancer patients with minor children--psychological distress in comparison with the general population and the cancer partner].

    PubMed

    Götze, Heide; Brähler, Elmar; Romer, Georg; Bergelt, Corinna; von Klitzing, Kai; Herzog, Wolfgang; Flechtner, Hans-Henning; Lehmkuhl, Ulrike; Ernst, Jochen

    2012-05-01

    A cancer disease in the family is an emotional crisis with psychological distress for the partner. The study observed the psychological distress of female partners of cancer patients with underage children (HADS-D). The results were compared with the psychological distress of the cancer patient as well as a representative comparison group of women from the general population. Every second female partner showed clinically anxiety scores. On average, the female partners were significantly more anxious than male cancer patients and even more afraid than women from the general population. Regarding the degree of depression, between the partners there were no differences. With regard to mental distress, a medium correlation was found on the pair level. Based on the use of psycho-oncological support the high emotional distress on the female partners is discussed. PMID:22565334

  6. Corynebacterium riegelii sp. nov., an Unusual Species Isolated from Female Patients with Urinary Tract Infections

    PubMed Central

    Funke, Guido; Lawson, Paul A.; Collins, Matthew D.

    1998-01-01

    Four strains of an unknown coryneform bacterium were isolated in pure culture from females with urinary tract infections. Strong urease activity and the ability to slowly ferment maltose but not glucose were the most significant phenotypic features of this catalase-positive, nonmotile, nonlipophilic, rod-shaped bacterium which served to distinguish it from all other presently defined coryneform bacteria. Chemotaxonomic investigations demonstrated that the unknown bacterium belonged to the genus Corynebacterium. Comparative 16S rRNA gene sequence analysis revealed that the isolates were genealogically identical and represented a new subline within the genus Corynebacterium, for which the designation Corynebacterium riegelii sp. nov. is proposed. The type strain of Corynebacterium riegelii is CCUG 38180 (DSM 44326, CIP 105310). PMID:9508284

  7. Micromachined Tunable Fabry-Perot Filters for Infrared Astronomy

    NASA Technical Reports Server (NTRS)

    Barclay, Richard; Bier, Alexander; Chen, Tina; DiCamillo, Barbara; Deming, Drake; Greenhouse, Matthew; Henry, Ross; Hewagama, Tilak; Jacobson, Mindy; Loughlin, James; Krebs, Carolyn A. (Technical Monitor)

    2002-01-01

    Micromachined Fabry-Perot tunable filters with a large clear aperture (12.5 to 40 mm) are being developed as an optical component for wide-field imaging 1:1 spectroscopy. This program applies silicon micromachining fabrication techniques to miniaturize Fabry-Perot filters for astronomical science instruments. The filter assembly consists of a stationary etalon plate mated to a plate in which the etalon is free to move along the optical axis on silicon springs attached to a stiff silicon support ring. The moving etalon is actuated electrostatically by electrode pairs on the fixed and moving etalons. To reduce mass, both etalons are fabricated by applying optical coatings to a thin freestanding silicon nitride film held flat in drumhead tension rather than to a thick optical substrate. The design, electro-mechanical modeling, fabrication, and initial results will be discussed. The potential application of the miniature Fabry-Perot filters will be briefly discussed with emphasis on the detection of extra-solar planets.

  8. Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy.

    PubMed

    Rodda, Odette A; Lynch, Matthew; Parsons, Sarah

    2016-08-01

    We present a case of Fabry disease with an uncommon pattern of asymmetrical hypertrophy with septal prominence resulting in an erroneous diagnosis of hypertrophic cardilmyopathy clinically. The deceased presented for a medicolegal autopsy following his sudden death after an AV node ablation. Fabry disease continues to be an important misdiagnosis of hypertrophic cardiomyopathy in a clinical setting. Early diagnosis of Fabry disease is essential so that early treatment can be instituted. PMID:27213840

  9. Prognostic effect of pregnancy on young female patients with nasopharyngeal carcinoma: results from a matched cohort analysis

    PubMed Central

    Tang, Lin-Quan; Chen, Qiu-Yan; Guo, Shan-Shan; Liu, Li-Ting; Guo, Ling; Mo, Hao-Yuan; Zhao, Chong; Guo, Xiang; Cao, Ka-Jia; Qian, Chao-Nan; Zeng, Mu-Sheng; Shao, Jian-Yong; Sun, Ying; Ma, Jun; Hong, Ming-Huang; Mai, Hai-Qiang

    2016-01-01

    Objectives We aimed to evaluate the prognosis of pregnancy-associated patients with nasopharyngeal carcinoma (NPC) in a young population. Methods From June 1999 to December 2010, 51 patients aged ≤ 35 years who were diagnosed with NPC during pregnancy or within one year after delivery were admitted into the pregnancy-associated group in our institution. An additional 51 patients who were not pregnant at diagnosis were selected from 451 patients based on the matching criteria to match the pregnancy-associated female patients. The primary endpoint was overall survival (OS). The secondary endpoints were progression-free survival (PFS) and distant-metastasis failure-free survival (DMFS) and locoregional failure-free survival (LRFS). Results The advanced stage was not different between the pregnant and the non-pregnant group before matching (69.8% vs. 70.3%, P = 0.690). No difference in OS at the median follow-up time of 92 months was observed between the pregnancy-associated and the non-pregnant group (85.4% vs. 92.2%, P = 0.478); likewise, no differences were observed regarding PFS and DMFS. However, the pregnancy-associated group had worse LRFS than the non-pregnant group (84.8% vs. 95.9%, P = 0.033). When the pregnancy-associated patients were dichotomized into an early pregnancy group and a late pregnancy group, our data showed that pregnancy interval did not seem to impact the risk of death or relapse. Conclusion Our results show that patients in the pregnant group did not seem to have more advanced stage or inferior survival than that in the non-pregnant group. PMID:26980734

  10. The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain.

    PubMed

    Choi, L; Vernon, J; Kopach, O; Minett, M S; Mills, K; Clayton, P T; Meert, T; Wood, J N

    2015-05-01

    Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease. We investigated the link between Gb3, lyso-Gb3 and pain. Plantar administration of lyso-Gb3 or Gb3 caused mechanical allodynia in healthy mice. In vitro application of 100nM lyso-Gb3 caused uptake of extracellular calcium in 10% of sensory neurons expressing nociceptor markers, rising to 40% of neurons at 1μM, a concentration that may occur in Fabry disease patients. Peak current densities of voltage-dependent Ca(2+) channels were substantially enhanced by application of 1μM lyso-Gb3. These studies suggest a direct role for lyso-Gb3 in the sensitisation of peripheral nociceptive neurons that may provide an opportunity for therapeutic intervention in the treatment of Fabry disease-associated pain. PMID:25697597

  11. Using a sibling design to compare childhood adversities in female patients with BPD and their sisters.

    PubMed

    Laporte, Lise; Paris, Joel; Guttman, Herta; Russell, Jennifer; Correa, José A

    2012-11-01

    Abuse and neglect are well-established risk correlates of borderline personality disorder (BPD). The goal of this study was to examine whether BPD probands can be differentiated from their sisters with respect to a range of developmental adversity and maltreatment indicators, including retrospective self-reports of past experiences of childhood abuse and neglect, dysfunctional parent-child relationships and peer victimization and dysfunctional peer relationships. A total of 53 patients with BPD were compared to 53 sisters who were currently free of psychopathology on measures assessing childhood adversities. Both probands and sisters reported similar prevalence of intrafamilial abuse, although BPD patients reported more severe physical and emotional abuse. BPD patients reported higher prevalence of physical abuse by peers. These findings generally support the principle of multifinality, in which similar histories of adversities can be associated with a variety of outcomes, ranging from psychopathology to resilience. PMID:23076835

  12. Cryopreservation and Fertility: Current and Prospective Possibilities for Female Cancer Patients

    PubMed Central

    Campos, Jacira Ribeiro; Rosa-e-Silva, Ana Carolina Japur de Sá

    2011-01-01

    With the evolution of the treatment of malignant neoplasms, the survival rates of patients undergoing chemo- or radiotherapy are increasing. The continuous development of techniques of assisted human reproduction has led to important strategies in an attempt to maintain reproductive function in patients subjected to treatment of neoplastic diseases, among them cryopreservation of embryos, gametes, and ovarian cortical tissue. The freezing of ovarian tissue is currently being proposed with the primary purpose of preserving ovarian function in these patients. Currently, the major challenge of groups working with preservation of fertility is the use of cryopreserved ovarian tissue after disease remission. The main alternatives presented today are the implantation of hetero- or orthotopic tissue and isolation of immature follicles from ovarian tissue followed by in vitro maturation and assisted reproduction procedures. PMID:22191044

  13. Blunt urogenital trauma in prepubescent female patients: more than meets the eye!

    PubMed

    Lynch, J M; Gardner, M J; Albanese, C T

    1995-12-01

    Blunt traumatic injury to the urogenital region in the prepubescent girl is commonly evaluated in pediatric emergency departments (ED). The purpose of this study is: 1) to establish recommendations for an accurate, painless (both physically and psychologically), and timely diagnosis, and 2) to determine whether the ED examination can accurately determine the extent of the injury. Over a 24-month period (January 1991 through December 1992), 22 girls with blunt trauma to the urogenital region (mean age 5.7 years, range 2-9 years) were retrospectively evaluated. Initial ED evaluations were by both an emergency physician and a pediatric surgeon. All 22 patients underwent an examination under anesthesia (EUA) in the operating room to evaluate the extent of the injury and to repair the injury as needed. Follow-up was obtained in all patients and averaged 18 months. The findings at EUA demonstrated a significant disagreement with the preoperative ED evaluation. In only five patients was there agreement between the preoperative ED assessment and the findings during the EUA (24% concurrence). Thus, 16 patients (76%) had injuries of greater extent than was appreciated during the preoperative examination in the ED. Partial or complete disruption of the perianal sphincters occurred in six patients (27%) and was unrecognized preoperatively in each. Twenty-one of the 22 patients required suture repair of lacerations, the remaining patient did not require surgical therapy. Three patients had contusions or lacerations to the urethral area requiring repair and/or prolonged bladder catheter drainage for two to 14 days (average seven days). The average hospital stay was 19.3 hours. There were three minor wound complications following surgery: two required repeat EUA with suturing or cauterization, and one required no further therapy. This study clearly demonstrates that the ED examination, by both emergency physicians and pediatric surgeons, of young girls who have suffered blunt

  14. Evaluation of the Sympathetic Skin Response to the Dry Needling Treatment in Female Myofascial Pain Syndrome Patients

    PubMed Central

    Ozden, Ali Veysel; Alptekin, Hasan Kerem; Esmaeilzadeh, Sina; Cihan, Cem; Aki, Semih; Aksoy, Cihan; Oncu, Julide

    2016-01-01

    Background The aim of this study was to evaluate sympathetic nervous system (SNS) activity following dry needling (DN) treatment, by using the sympathetic skin response (SSR) method in female patients diagnosed with myofascial pain syndrome (MPS). Methods Twenty-nine MPS patients with trapezius muscle pain and 31 healthy subjects were included in this study. During a single treatment session, DN treatment was applied into trigger points, for a duration of 10 minutes. Healthy patients were subjected to SSR in weeks 1 and 4; whereas the patient group was subjected to SSR 1 week prior to their treatment and in the first, second, third and fourth weeks following the completion of their treatment. Results We found diminished latency on both sides. A significantly high algometer measurement (P < 0.05) was observed in the control group. DN treatment was effective in diminishing the visual analog scale (VAS) (P < 0.001), pressure pain threshold (PPT) (P < 0.01), and SSR (P < 0.001). No SSR change was detected in the healthy group after the follow-up period (P > 0.05). Conclusion DN is an effective treatment in MPS and trigger point (TP). This original study is the first to deal with the SSR in MPS and weekly SSR trailing, requiring further investigation to solidy findings. PMID:27298659

  15. [Paroxysmal tonic seizures in 2 female black patients with multiple sclerosis].

    PubMed

    de Sá, J; Coelho, M H

    1991-01-01

    We present the clinical cases of two black patients from the Cabo Verde Islands, in whom Painful Tonic Seizures have been witnessed. In both cases the diagnosis of multiple would be certainly established and Magnetic Resonance Imaging (MRI) disclosed the cervical spinal cord lesions that, hypothetically, were responsible for the paroxysmal attacks. PMID:1807096

  16. Bladder augmentation in a young adult female exstrophy patient with associated omphalocele: an extremely unusual case.

    PubMed

    Quiroz-Guerrero, Javier; Badillo, Marco; Muñoz, Norberto; Anaya, Jorge; Rico, Gazpar; Maldonado-Valadez, Rafael

    2009-08-01

    We present the case of a 20-year-old woman with uncorrected bladder exstrophy and omphalocele treated with ileocystoplasty and continent urinary stoma. To our knowledge this is the first reported case of a young adult patient presenting with both congenital anomalies. The treatment result suggests that bladder preservation is a safe and feasible therapeutic option in bladder exstrophy. PMID:19375388

  17. Symptom management in patients with cancer of the female reproductive system receiving chemotherapy.

    PubMed

    Phianmongkhol, Yupin; Suwan, Natthawan

    2008-01-01

    This study was conducted to examine the feelings, symptom management, and needs of patients with gynecological cancer receiving chemotherapy at Chiang Mai University Hospital, Chiang Mai, Thailand. During the period July 2006 and June 2007, 286 patients were recruited. The most common chemotherapeutic regimen was paclitaxel and carboplatin followed by single carboplatin and weekly cisplatin. Five severe and frequent complications were as follows: alopecia, anorexia, fatigue, nausea, and vomiting. Some 41.9% could well tolerate with such complications but 50.3% had various feelings including irritability, boredom, dejection, fear, stress, and anxiety. Anorexia was the symptom that the majority of them could best manage, 17.4% by eating as much as they can and 32.6% by selecting different foods from normal, such as fruit, sweetmeats, noodles, milk. For nausea and vomiting, 31.3% managed by eating fruit, drinking sour juice, and holding sour fruit in mouth, and 16.0% used the breathing method, eating something cold, such as ice-cream, or hot food like noodles. For health needs, 41.0% needed encouragement, care, health education, and information from doctors and nurses, and 5.0% needed care and encouragement from their family, and sympathy from neighbors and colleagues. In conclusion, gynecological cancer patients receiving chemotherapy experience a variety of feelings, symptom management. and health needs. Nurses need to explain the pathology of the occurring symptoms so that the patients can understand and accept the symptoms to lessen their negative impact. PMID:19256770

  18. Innovating a Writing Group for Female Cancer Patients: A Counselling Field Description

    ERIC Educational Resources Information Center

    Larsen, Denise J.; Cumming, C.; Hundleby, M.; Kuiken, D.

    2003-01-01

    The effects of a cancer diagnosis can be devastating and far-reaching. Expressive-supportive group therapy has proven useful for treating patients struggling with many of these effects. In addition, individual therapeutic writing methods have shown benefit for many individuals addressing a variety of difficult life circumstances including cancer.…

  19. Cardiac transplant in young female patient diagnosed with diffuse systemic sclerosis.

    PubMed

    Bennasar, Guillermo; Carlevaris, Leandro; Secco, Anastasia; Romanini, Felix; Mamani, Marta

    2016-01-01

    Systemic sclerosis (SS) in a multifactorial and systemic, chronic, autoimmune disease that affects the connective tissue. We present this clinical case given the low prevalence of diffuse SS with early and progressive cardiac compromise in a young patient, and treatment with cardiac transplantation. PMID:26702511

  20. Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with (13)C-encoded natural S1P as internal standard.

    PubMed

    Mirzaian, Mina; Wisse, Patrick; Ferraz, Maria J; Marques, André R A; Gabriel, Tanit L; van Roomen, Cindy P A A; Ottenhoff, Roelof; van Eijk, Marco; Codée, Jeroen D C; van der Marel, Gijsbert A; Overkleeft, Herman S; Aerts, Johannes M

    2016-08-01

    We developed a mass spectrometric procedure to quantify sphingosine-1-phosphate (S1P) in biological materials. The use of newly synthesized (13)C5 C18-S1P and commercial C17-S1P as internal standards rendered very similar results with respect to linearity, limit of detection and limit of quantitation. Caution is warranted with determination of plasma S1P levels. Earlier it was reported that S1P is elevated in plasma of Fabry disease patients. We investigated this with the improved quantification. No clear conclusion could be drawn for patient plasma samples given the lack of uniformity of blood collection and plasma preparation. To still obtain insight, plasma and tissues were identically collected from α-galactosidase A deficient Fabry mice and matched control animals. No significant difference was observed in plasma S1P levels. A significant 2.3 fold increase was observed in kidney of Fabry mice, but not in liver and heart. Comparative analysis of S1P in cultured fibroblasts from normal subjects and classically affected Fabry disease males revealed no significant difference. In conclusion, accurate quantification of S1P in biological materials is feasible by mass spectrometry using the internal standards (13)C5 C18-S1P or C17-S1P. Significant local increases of S1P in the kidney might occur in Fabry disease as suggested by the mouse model. PMID:27221202

  1. Presentation of case: Bladder cancer in an 18 year old female patient

    PubMed Central

    Sheehan, Lisa; Anwar, Adeel; Kommu, Sashi

    2014-01-01

    Introduction Bladder cancers are not very common in the young population below 20 years of age, especially in those who have not been exposed to chemotherapy, bladder augmentation surgery and other known risk factors. By highlighting this case we hope to raise awareness in the medical community, that the symptom of visible haematuria can potentially be due to a bladder malignancy and therefore this should be thoroughly investigated. Presentation of case An 18-year-old female presented with intermittent macroscopic haematuria and non-specific abdominal pain. Physical examination and routine blood tests were normal. An ultrasound scan initially showed a bladder wall lesion, which a flexible cystoscopy confirmed. Histology revealed grade 2 papillary transitional cell carcinoma of the bladder with no invasion into the lamina propria (G2pTa TCCB). Discussion We recognise through our literature review that paediatric bladder cancers are not commonly reported in the UK. In our paper we highlight the relevant major studies that have been carried out world-wide, the reported incidence so far and gaps in the evidence base. Conclusion Despite the dearth of data about paediatric bladder malignancies there is enough case-based evidence, from world-wide sources, to support that bladder cancer must be suspected in the event of macroscopic haematuria. Ultrasound and cystoscopy are the standard diagnostic tools for bladder tumours. Endoscopic resection of the tumour followed up by interval ultrasound scans and flexible cystoscopy checks remain the mainstay of treatment hitherto. PMID:25574770

  2. Negative Opinions About Cancer Screening and Contraceptive Measures by Female Emergency Department Patients

    PubMed Central

    Gee, Erin M.; Bock, Beth C.; Becker, Bruce M.; Clark, Melissa A.

    2011-01-01

    We sought to determine the extent to which adult female emergency department participants viewed two women’s cancer screening and two contraceptive measures negatively. The study also explored the relationship between having a negative opinion about these measures and participant demography, lack of knowledge, and lack of usage of these measures. Few women expressed negative opinions about these measures. Lack of knowledge about and lack of use of these measures were associated with having negative opinions on these cancer screening and contraceptive measures. Having any negative opinion about one cancer screening or contraceptive measure was associated with a higher risk of having any negative opinion on another measure. The results suggest that influencing opinion and knowledge about these measures might impact the success of emergency department-based cancer screening and contraceptive health programs. Editors’ Strategic Implications: Emergency departments (and primary care settings) provide key opportunities for prevention. Replication is needed, but the authors present important data on knowledge, attitudes, and characteristics that might influence women’s receptivity to consent to and engage in behaviors consistent with prevention, screening, and health promotion. PMID:19011970

  3. Increased migration of uncemented acetabular cups in female total hip arthroplasty patients with low systemic bone mineral density

    PubMed Central

    Finnilä, Sami; Moritz, Niko; SvedströM, Erkki; Alm, Jessica J; Aro, Hannu T

    2016-01-01

    Background and purpose Low bone mineral density (BMD) may jeopardize the initial component stability and delay osseointegration of uncemented acetabular cups in total hip arthroplasty (THA). We measured the migration of uncemented cups in women with low or normal BMD. Patients and methods We used radiostereometric analysis (RSA) to measure the migration of hydroxyapatite-coated titanium alloy cups with alumina-on-alumina bearings in THA of 34 female patients with a median age of 64 (41–78) years. 10 patients had normal BMD and 24 patients had low systemic BMD (T-score ≤ −1) based on dual-energy X-ray absorptiometry (DXA). Cup migration was followed with RSA for 2 years. Radiographic follow-up was done at a median of 8 (2–10) years. Results Patients with normal BMD did not show a statistically significant cup migration after the settling period of 3 months, while patients with low BMD had a continuous proximal migration between 3 and 12 months (p = 0.03). These differences in cup migration persisted at 24 months. Based on the perceived risk of cup revision, 14 of the 24 cases were “at risk” (proximal translation of 0.2 to 1.0 mm) in the low-BMD group and 2 of the10 cases were “at risk” in the normal-BMD group (odds ratio (OR) = 8.0, 95% CI: 1.3–48). The radiographic follow-up showed no radiolucent lines or osteolysis. 2 cups have been revised for fractures of the ceramic bearings, but none for loosening. Interpretation Low BMD contributed to cup migration beyond the settling period of 3 months, but the migrating cups appeared to osseointegrate eventually. PMID:26569616

  4. Fertility Risk Assessment and Preservation in Male and Female Prepubertal and Adolescent Cancer Patients.

    PubMed

    Zavras, Nikolaos; Siristatidis, Charalampos; Siatelis, Argyris; Koumarianou, Anna

    2016-01-01

    Cancer represents the second cause of death in prepubertal children and adolescents, although it is currently associated with an overall survival rate of 80%-85%. The annual incidence rate is 186.6 per 1 million children and adolescents aged up to 19 years. Both disease and treatment options are associated with life-altering, long-term effects that require monitoring. Infertility is a common issue, and as such, fertility preservation represents an essential part in the management of young patients with cancer who are at risk of premature gonadal failure. This review deals with the up-to-date available data on fertility risk assessment and preservation strategies that should be addressed prior to antineoplastic therapy in this vulnerable subgroup of cancer patients. PMID:27398041

  5. Fertility Risk Assessment and Preservation in Male and Female Prepubertal and Adolescent Cancer Patients

    PubMed Central

    Zavras, Nikolaos; Siristatidis, Charalampos; Siatelis, Argyris; Koumarianou, Anna

    2016-01-01

    Cancer represents the second cause of death in prepubertal children and adolescents, although it is currently associated with an overall survival rate of 80%–85%. The annual incidence rate is 186.6 per 1 million children and adolescents aged up to 19 years. Both disease and treatment options are associated with life-altering, long-term effects that require monitoring. Infertility is a common issue, and as such, fertility preservation represents an essential part in the management of young patients with cancer who are at risk of premature gonadal failure. This review deals with the up-to-date available data on fertility risk assessment and preservation strategies that should be addressed prior to antineoplastic therapy in this vulnerable subgroup of cancer patients. PMID:27398041

  6. [Phases in the rehabilitation of male and female bone marrow transplant patients].

    PubMed

    Arnold, R; Bergerhoff, P; Denzinger, R; Hertenstein, B; Kächele, H; Novak, P; Schwilk, C; Simons, C

    1992-06-01

    Teamwork is essential when investigating the long-term adoption of such medical intervention that are highly demanding on patients, physicians and nursing staff. Bone marrow transplantation represent such an intervention for a series of well defined hematological diseases. The contribution demonstrates the multiple perspective approach of the Ulm team. A case report illustrates the multiplicity of clinical issues. The state of research allows the sketching of a process model on rehabilitation. PMID:1494634

  7. [A female patient with late-onset schizophrenia and fear of Katwijk disease].

    PubMed

    Veerman, S R T; Sno, H N; Ravelli, D P; Roos, R A C

    2009-01-01

    A 66-year-old patient had suffered from late-onset schizophrenia from the age of 44. Her family history included reports of brain haemorrhages, possibly resulting from hereditary amyloidal angiopathy of the Dutch type (Katwijk disease). She was very afraid for having this disease. The progression of the psychiatric symptoms and the age at which they began, led us to suspect an organic process. Differential diagnoses that were discussed included cerebral amyloidal angiopathy, frontal lobe dementia and Huntington's disease. PMID:19434580

  8. Risk factors for recurrent cystitis following acute cystitis in female patients.

    PubMed

    Yoon, Byung Il; Kim, Sun Wook; Ha, U-Syn; Sohn, Dong Wan; Cho, Yong-Hyun

    2013-08-01

    We conducted a retrospective analysis of acute cystitis (AC) patients to evaluate the risk factors of recurrent cystitis (RC) patients following AC. The clinical records of 254 subjects with a confirmed diagnosis of AC and 90 healthy subjects who visited the Health Promotion Center between 2008 and 2012 were reviewed. A patient was diagnosed with RC if she was treated for three or more symptomatic episodes of cystitis over a 12-month period. Results were analyzed according to three groups: normal control (group A, n = 90), AC (group B, n = 121), and RC (group C, n = 133). Women in the cystitis groups (groups B and C) were more likely to have diabetes, be menopausal, have a history of catheterization or sexually transmitted infections (STI), have a low daily water intake, have frequent sexual intercourse, and to use contraception more frequently than the normal control group (P < 0.05). In groups B and C, Escherichia coli was the most common uropathogen, followed by Staphylococcus saprophyticus, Enterococcus species, and Klebsiella species. There were no differences between groups in the detection rates of these uropathogens. Factors that affected progression to RC were diabetes, catheterization history, STI history, sexual intercourse more than four times per month, sexual intercourse in the last month, and the use of contraceptives (P < 0.05). The identification of these factors may help develop preventive, diagnostic, and therapeutic strategies for treating RC that has progressed from AC. PMID:23380970

  9. Work stress, sleep deficiency and predicted 10-year cardiometabolic risk in a female patient care worker population

    PubMed Central

    Jacobsen, Henrik Børsting; Reme, Silje Endresen; Sembajwe, Grace; Hopcia, Karen; Stiles, Tore C.; Sorensen, Glorian; Porter, James H.; Marino, Miguel; Buxton, Orfeu M.

    2014-01-01

    Objectives The aim of this study was to investigate the longitudinal effect of work-related stress, sleep deficiency and physical activity on 10-year cardiometabolic risk among an all-female worker population. Methods Data on patient care workers (n=99) was collected two years apart. Baseline measures included: job stress, physical activity, night work and sleep deficiency. Biomarkers and objective measurements were used to estimate 10-year cardiometabolic risk at follow-up. Significant associations (P<0.05) from baseline analyses were used to build a multivariable linear regression model. Results The participants were mostly white nurses with a mean age of 41 years. Adjusted linear regression showed that having sleep maintenance problems, a different occupation than nurse, and/or not exercising at recommended levels at baseline increased the 10-year cardiometabolic risk at follow-up. Conclusions In female workers prone to work-related stress and sleep deficiency, maintaining sleep and exercise patterns had a strong impact on modifiable 10-year cardiometabolic risk. PMID:24809311

  10. In vitro hemolytic effect of sulfadoxine/pyrimethamine and artemether/lumefantrine on malaria parasitized erythrocytes of female patients.

    PubMed

    Anaba, Festus Chinyereugo; Ahiante, Blessing Osemengbe; Pepple, Dagogo John

    2012-10-01

    G6PD is an X-linked gene enzyme that protects erythrocytes from hemolysis when they are exposed to antimalarial drugs because of the effects of the free radicals generated by these drugs. We investigated the effects of Fansidar ™ (Sulfatoxine/Pyrimethamine) and Coartem ™ (Artemether/Lumefantrine) on the hemolysis of malaria parasitized female erythrocytes. Twelve (12) malarious patients attending the University of Benin Teaching Hospital, Benin City, Nigeria, were used in this study. Ten (10) apparently healthy female students from the Medical School, University of Benin, acted as control. Low, normal (the recommended adult dose) and high doses of Fansidar ™ and Coartem ™ were used to determine the percentage hemolysis by checking the absorbance of the various samples. Data was analyzed by the Student's t-test and ANOVA with p<0.05 indicating the level of significance. At low doses of Fansidar ™ and Coartem ™, no hemolysis occurred, while at normal doses, Fansidar ™ showed no hemolysis but significant hemolysis (p<0.05) was observed in the Coartem ™ group. At high doses, both FansidarTM and CoartemTM caused significant (p<0.05) hemolysis. High doses of both drugs and normal dose of CoartemTM caused significant hemolysis. There was no hemolysis observed in the normal dose of FansidarTM and low doses for both drugs, similar to the trend reported for male subjects. PMID:23010004

  11. Emotion recognition in depression: An investigation of performance and response confidence in adult female patients with depression.

    PubMed

    Fieker, Martina; Moritz, Steffen; Köther, Ulf; Jelinek, Lena

    2016-08-30

    Abnormalities in emotion recognition are frequently reported in depression. However, emotion recognition is not compromised in some studies, and confidence judgments, which are essential for social interaction, have not been considered to date. Due to the high prevalence rate of depression in women, and sex differences in emotion recognition, the aim of the present study was to investigate emotion recognition and confidence judgments in women with depression. A sample of female patients with depressive disorders (n=45) was compared with female healthy controls (n=30) in their ability to correctly identify facial emotion expressions along with confidence judgments. Groups performed similarly on emotional face recognition and showed no difference regarding confidence ratings. A negative correlation between self-assessed depression and response confidence was found. While some limitations of the study must be taken in consideration (e.g., small number of items per emotion category, low severity of depression), abnormalities in emotion recognition do not seem to be a major feature of depression. As self-assessed depression is accompanied by low response confidence for emotional faces, it is crucial to further examine the role of confidence judgments in emotion recognition, as underconfidence may foster interpersonal insecurity in depression. PMID:27294796

  12. Ovarian function and reproductive outcomes of female patients with systemic lupus erythematosus and the strategies to preserve their fertility.

    PubMed

    Oktem, Ozgur; Guzel, Yılmaz; Aksoy, Senai; Aydin, Elvin; Urman, Bulent

    2015-03-01

    Systemic lupus erythematosus (SLE) is a chronic autoimmune systemic disease that mainly affects women of reproductive age. Emerging data from recent molecular studies show us that estrogen hormone plays a central role in the development of this disease. By acting via its cognate receptors ERα and ERβ expressed on immune cells, estrogen can modulate immune function in both the innate and adaptive immune responses. Interestingly, estrogen may also evoke autoimmune responses after binding to B lymphocytes leading to the generation of high-affinity autoantibodies and proinflammatory cytokines (so-called estrogen-induced autoimmunity). Unfortunately, reproductive function of young female patients with this disease is commonly compromised by different pathophysiologic processes. First, ovarian reserve is diminished even in the presence of mild disease suggesting a direct impact of the disease itself on ovarian function possibly due to ovarian involvement in the form of autoimmune oophoritis. Second, SLE patients with severe manifestations of the disease are treated with alkylating chemotherapy agent cyclophosphamide. Cyclophosphamide and other drugs of alkylating category have the highest gonadotoxicity. Therefore, SLE patients exposed to cyclophosphamide have a much higher risk of developing infertility and premature ovarian failure than do the counterparts who are treated with other less toxic treatments. Third, the functions of the hypothalamic pituitary ovarian axis are perturbed by chronic inflammatory state. And finally adverse pregnancy outcomes are more commonly observed in SLE patients such as fetal loss, preterm birth, intrauterine fetal growth restriction, preeclampsia-eclampsia, and fetal congenital heart block. We aimed in this review article to provide the readers an update on how estrogen hormone closely interacts with and induces lupus-prone changes in the immune system. We also discuss ovarian function and other reproductive outcomes in SLE patients

  13. Managing a Female Patient with Left Low Back Pain and Sacroiliac Joint Pain with Therapeutic Exercise: A Case Report

    PubMed Central

    2011-01-01

    ABSTRACT Purpose: The purpose of this case study is to describe the management of a female patient with chronic left low back pain and sacroiliac joint pain (LBP/SIJP) using unique unilateral exercises developed by the Postural Restoration Institute (PRI) to address pelvic asymmetry and left hip capsule restriction, which is consistent with a Right Handed and Left Anterior Interior Chain pattern of postural asymmetry. Client Description: The client was 65-year-old woman with a 10-month history of constant left LBP/SIJP and leg pain. Intervention: The patient was seen six times to correct pelvic position/posture and left hip posterior capsule restriction via (1) muscle activation (left hamstrings, adductor magnus, and anterior gluteus medius) and (2) left hip adduction to lengthen the left posterior capsule/ischiofemoral ligament. Stabilization exercises included bilateral hamstrings, gluteus maximus, adductors, and abdominals to maintain pelvic position/posture. Measures and Outcome: Left Ober's test (initially positive) was negative at discharge. Pain as measured on the Numeric Pain Rating Scale (initially 1/10 at best and 8/10 at worst) was 0/10–0/10 at discharge. Oswestry Disability Index score (initially 20%) was 0% at discharge. The patient no longer had numbness in her left leg, and sexual intercourse had become pain free. Implications: Interventions to restore and maintain the optimal position of pelvis and hip (femoral head in the acetabulum) may be beneficial for treating patients with chronic LBP/SIJP. The patient's pain was eliminated 13 days after she first performed three exercises to reposition the pelvis and restore left posterior hip capsule extensibility and internal rotation. PMID:22379254

  14. Primary Diaphragmatic Dedifferentiated Liposarcoma in a Young Female Patient after Delivery

    PubMed Central

    Sakata, Shinya; Yoshida, Chieko; Saeki, Sho; Hirosako, Susumu

    2016-01-01

    A 26-year-old woman was admitted with the chief complaint of chest pain. She had delivered her first child 9 months before admission. Computed tomography showed a bulky mass in her left chest, and histopathological analysis revealed it to be dedifferentiated liposarcoma. We initiated doxorubicin chemotherapy, and the tumor mass reduced. After that, we performed vascular embolization along with chemotherapy, but tumor size did not reduce. On the 160th day of illness, the patient died. This is the first report of a primary diaphragmatic dedifferentiated liposarcoma diagnosed after delivery. Establishment of a regimen of chemotherapy for bulky unresectable liposarcoma is necessary. PMID:27247814

  15. Germline variations of apurinic/apyrimidinic endonuclease 1 (APEX1) detected in female breast cancer patients.

    PubMed

    Ali, Kashif; Mahjabeen, Ishrat; Sabir, Maimoona; Baig, Ruqia Mehmood; Zafeer, Maryam; Faheem, Muhammad; Kayani, Mahmood Akhtar

    2014-01-01

    Apurinic/apyrimidinic endonuclease 1 (APEX1) is a multifunctional protein which plays a central role in the BER pathway. APEX1 gene being highly polymorphic in cancer patients and has been indicated to have a contributive role in Apurinic/apyrimidinic (AP) site accumulation in DNA and consequently an increased risk of cancer development. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 530 breast cancer patients and 395 matched healthy controls and then analyzed by single-stranded conformational polymorphism followed by sequencing. Sequence analysis revealed fourteen heterozygous mutations, seven 5'UTR, one 3 'UTR, two intronic and four missense. Among identified mutations one 5'UTR (rs41561214), one 3'UTR (rs17112002) and one missense mutation (Ser129Arg, Mahjabeen et al., 2013) had already been reported while the remaining eleven mutations. Six novel mutations (g.20923366T>G, g.20923435G>A, g.20923462G>A, g.20923516G>A, 20923539G>A, g.20923529C>T) were observed in 5'UTR region, two (g.20923585T>G, g.20923589T>G) in intron1 and three missense (Glu101Lys, Ala121Pro, Ser123Trp) in exon 4. Frequencues of 5'UTR mutations; g.20923366T>G, g.20923435G>A and 3'UTR (rs17112002) werecalculated as 0.13, 0.1 and 0.1 respectively. Whereas, the frequency of missense mutations Glu101Lys, Ser123Trp and Ser129Arg was calculated as 0.05. A significant association was observed between APEX1 mutations and increased breast cancer by ~9 fold (OR=8.68, 95%CI=2.64 to 28.5) with g.20923435G>A (5'UTR) , ~13 fold (OR= 12.6, 95%CI=3.01 to 53.0) with g.20923539G>A (5'UTR) and~5 fold increase with three missense mutations [Glu101Lys (OR=4.82, 95%CI=1.97 to 11.80), Ser123Trp (OR=4.62, 95%CI=1.7 to 12.19), Ser129Arg (OR=4.86, 95%CI=1.43 to 16.53)]. The incidence of observed mutations was found higher in patients with family history and with early menopause. In conclusion, our study demonstrates a significant association between germ line

  16. ROC analysis of subcutaneous adipose tissue topography (SAT-Top) in female coronary heart disease patients and healthy controls.

    PubMed

    Wallner, Sandra Johanna; Horejsi, Renate; Zweiker, Robert; Watzinger, Norbert; Möller, Reinhard; Schnedl, Wolfgang Johann; Schauenstein, Konrad; Tafeit, Erwin

    2008-06-01

    The aim of this study was to investigate whether subcutaneous adipose tissue topography (SAT-Top) is different in female CHD patients (n=26) and healthy controls (n=36) matched to age, body size, weight, and BMI. The thicknesses of SAT layers were measured by LIPOMETER at 15 specified body sites. To calculate the power of the different body sites to discriminate between CHD women and healthy controls, receiver operating characteristic (ROC) curve analysis was performed. For each parameter, sensitivity and specificity were calculated at different cutoff points. CHD women showed a significant decrease to 78.36% (p=0.012) at body site 11-front thigh, 73.10% (p=0.012) at 12-lateral thigh, 72.20% (p=0.009) at 13-rear thigh, 66.43% (p<0.001) at 14-inner thigh, and 49.19% (p<0.001) at 15-calf. The best discriminators analysed by ROC curves between female CHD patients and healthy controls turned out to be calf and inner thigh (optimal cut off values: calf: 3.85 mm and inner thigh: 11.15 mm). Stepwise discriminant analysis identified the body sites calf, lateral chest, and inner thigh as significant. In conclusion, information was obtained on the extent to which SAT thickness at each measured body site is able to discriminate between the two subject groups. The good discrimination results obtained for the present dataset are encouraging enough to recommend applying LIPOMETER SAT-Top measurements in further studies to investigate individual risks for CHD. PMID:18832782

  17. Management of acne vulgaris with hormonal therapies in adult female patients.

    PubMed

    Husein-ElAhmed, Husein

    2015-01-01

    Acne vulgaris is a very common condition affecting up of 93% of adolescents. Although rare, this disease may persist in adulthood. In adult women with acne (those older than 25 years old), this condition is particularly relevant because of the refractory to conventional therapies, which makes acne a challenge for dermatologists in this group of patients. In order to its potential risk for chronicity and the involvement of visible anatomical sites such as face and upper torso, acne has been associated with a wide spectrum of psychological and social dysfunction such as depression, anxiety, suicidal ideation, somatization, and social inhibition. In particular, adult women with acne have been shown to be adversely impacted by the effect of acne on their quality of life. For the last four decades, dermatologists have used hormonal therapies for the management of acne vulgaris in adult women, which are considered a rational choice given the severity and chronicity of this condition in this group of patients. The aim of this work is to review the hormonal drugs for management of acne. PMID:25845307

  18. Evidence-based treatment and prevention of external genital warts in female pediatric and adolescent patients.

    PubMed

    Thornsberry, L; English, J C

    2012-04-01

    External anogenital warts, or condylomata acuminata, are caused by the proliferation of squamous epithelial cells secondary to human papillomavirus infection. In sexually active adults and adolescents, anogenital warts are a common sexually transmitted disease, but in children they may be a sign of sexual abuse. There are several treatment options available for anogenital warts, but no treatment has been proven to be the most efficacious, and recurrence after clinical clearance is common. Evidence-based treatment of genital warts is challenging because of the lack of controlled trials comparing treatments, especially in pediatric and adolescent populations. This paper discusses various treatment modalities such as physical destruction, cytotoxic agents, and immunomodulating therapies. Many variables influence the selection of a treatment, such as the size, quantity, and location of the warts; and the patient and provider preference, and its availability and cost. All treatments can cause local side effects, and patient tolerability must also be factored into treatment selection. Many treatments have similar clearance and recurrence rates, and none of the treatments completely eliminates the virus. With the numerous challenges surrounding the treatment of anogenital warts, the primary prevention of HPV infection through vaccination is a key component in decreasing the incidence of the disease. PMID:22530225

  19. Relationship Between Clinical and Immunological Features with Magnetic Resonance Imaging Abnormalities in Female Patients with Neuropsychiatric Systemic Lupus Erythematosus

    PubMed Central

    Wang, Hai-Peng; Wang, Cui-Yan; Pan, Zheng-Lun; Zhao, Jun-Yu; Zhao, Bin

    2016-01-01

    Background: Conventional magnetic resonance imaging (MRI) is the preferred neuroimaging method in the evaluation of neuropsychiatric systemic lupus erythematosus (NPSLE). The purpose of this study was to investigate the association between clinical and immunological features with MRI abnormalities in female patients with NPSLE, to screen for the value of conventional MRI in NPSLE. Methods: A total of 59 female NPSLE patients with conventional MRI examinations were enrolled in this retrospective study. All patients were classified into different groups according to MRI abnormalities. Both clinical and immunological features were compared between MRI abnormal and normal groups. One-way analysis of variance was used to compare the systemic lupus erythematosus disease activity index (SLEDAI) score for MRI abnormalities. Multivariate logistic regression analysis investigated the correlation between immunological features, neuropsychiatric manifestations, and MRI abnormalities. Results: Thirty-six NPSLE patients (61%) showed a variety of MRI abnormalities. There were statistically significant differences in SLEDAI scores (P < 0.001), incidence of neurologic disorders (P = 0.001), levels of 24-h proteinuria (P = 0.001) and immunoglobulin M (P = 0.004), and incidence of acute confusional state (P = 0.002), cerebrovascular disease (P = 0.004), and seizure disorder (P = 0.028) between MRI abnormal and normal groups. In the MRI abnormal group, SLEDAI scores for cerebral atrophy (CA), cortex involvement, and restricted diffusion (RD) were much higher than in the MRI normal group (P < 0.001, P = 0.002, P = 0.038, respectively). Statistically significant positive correlations between seizure disorder and cortex involvement (odds ratio [OR] = 14.90; 95% confidence interval [CI], 1.50–151.70; P = 0.023) and cerebrovascular disease and infratentorial involvement (OR = 10.00; 95% CI, 1.70–60.00; P = 0.012) were found. Conclusions: MRI abnormalities in NPSLE, especially CA

  20. Antiandrogenic Therapy with Ciproterone Acetate in Female Patients Who Suffer from Both Androgenetic Alopecia and Acne Vulgaris

    PubMed Central

    CONEAC, ANDREI; MURESAN, ADRIANA; ORASAN, MEDA SANDRA

    2014-01-01

    Background. Androgenetic Alopecia in Women (AGA) occurs due to an underlying susceptibility of hair follicles to androgenic miniaturization, caused by androgens. Clinically, AGA is characterized by progressive hair loss, with a marked hair thinning in the fronto-parietal area so that the scalp can be easily seen. Acne vulgaris is androgen-dependent and often affects the skin that has an increased number of oil glands: face, back and chest. Although the sebaceous glands are present on the scalp too, it is very rare to get acne at this site, as the hair acts as a wig and allows the sebum to drain and does not block the pores. Both AGA and Acne Vulgaris are signs of hyperandrogenism. Cyproterone acetate/ethinyl estradiol (2mg/0.035mg) products are authorized for the treatment of androgenetic symptoms in women, such as acne, seborrhea, mild forms of hirsutism and androgenetic alopecia. Our study had a double purpose: - To evaluate the result of the study regimen Melleva 35 (one pill per day, for 3 consecutive months) in patients with moderate to severe acne, suffering also from Androgenetic Alopecia;- To establish the efficacy of the drug on acne and alopecia improvement, both from the doctor’s and patient’s point of view. Patients and methods. After being informed of the aims and procedures of the study, participants provided a written informed consent. A number of 35 female subjects with moderate to severe acne vulgaris remained in the study. The subjects had also been diagnosed as suffering from AGA, on the basis of clinical criteria, including the pattern of hair loss and trichoscopy assessment. Results 83% of study subjects reported that their hair did not continue to fall after 3 months of antiandrogen therapy. The females were evaluated using trichoscopy and the doctor noticed hair regrowth in 77% of the cases. Regarding the improvement of acne lesions after the treatment, 40% of study subjects recorded good improvement and 26% recorded excellent results

  1. Acute myocardial infarction in a 56-year-old female patient treated with sulfasalazine.

    PubMed

    Daoulah, Amin; Alqahtani, Awad A R; Ocheltree, Sara R; Alhabib, Abdulkarim; Ocheltree, Ali R

    2012-05-01

    Drug rash, eosinophilia, and systemic symptoms (DRESS) syndrome represents one pattern of the cutaneous involvement in type IV hypersensitivity reaction to drugs. It is a severe, delayed, idiosyncratic reaction presented as rash with fever, lymphadenopathy, and visceral involvement. There are several reported cases of sulfasalazine-induced DRESS syndrome, but myocardial involvement was rare. High index of suspicion is needed in every patient receiving these drugs for prompt diagnosis and early management. We report a case of a 56-year-old woman treated with sulfasalazine for ankylosing spondylitis for 3 weeks, which was discontinued after development of DRESS syndrome. Despite treating her with high dose of steroid and cyclosporine, her symptoms persisted, and ultimately, she developed toxic myocarditis with a misleading presentation of acute ST-elevated myocardial infarction. The diagnosis was made based on postmortem histopathologic finding. PMID:21514761

  2. Cryopreservation of ovarian tissue for fertility preservation in young female oncological patients.

    PubMed

    Andersen, Claus Yding; Kristensen, Stine Gry; Greve, Tine; Schmidt, Kirsten Tryde

    2012-05-01

    Girls and women suffering from a cancer that requires treatment with gonadotoxic drugs may experience cessation of reproductive function as a side effect due to obliteration of the ovarian pool of follicles. Techniques are now available for fertility preservation, such as cryopreservation of mature oocytes, embryos or ovarian cortical tissue. Whereas collection of mature oocytes and embryos requires at least a 2-week period, ovarian tissue may on short notice be frozen prior to treatment and can be transplanted back into women with ovarian failure. Transplanted frozen/thawed tissue supports survival and growth of follicles, giving rise to menstrual cycles and hormone production for several years. Worldwide, the procedure has resulted in the birth of 15 healthy children. Many cancer patients including girls and young women want fertility preservation, and the techniques are now being further developed and implemented in several centers. PMID:22646773

  3. Studies in countertransference and gender: female analyst/male patient in two cases of childhood trauma.

    PubMed

    Bernardez, Teresa

    2004-01-01

    The paternal transference and the erotic transference have been singled out in the literature as more problematic for women analysts with male patients. Two clinical cases provide evidence for their appearance indicating that the reactions they trigger in women may explain the difficulties in their recognition and interpretation. In these particular cases, the author analyzes her counterresistance to a projected narcissistic, cruel father object and her defense of masochistic submission, following more stereotypical gender lines. And in the case of an eroticized transference, the fears of a symbiotic and incestuous merger made more difficult the elucidation of the complex transference reaction. The hypothesis is forwarded that cultural prohibitions are partly responsible for the lack of recognition of these transferences and for the challenging countertransference that they elicit. PMID:15132201

  4. [Treatment of a female patient with sickle-cell anemia during cardiac surgery with cardiopulmonary bypass].

    PubMed

    Díaz-Pache, M V Acedo; Sarrión Bravo, M V; Silva Guisasola, J; Ariño Irujo, J; López Timoneda, F

    2011-01-01

    A 17-year-old girl with drepanocytic (sickle-cell) anemia who was being treated with hydroxyurea and periodic blood transfusions through a Hickman-type catheter was admitted for periodic episodes of fever. Blood cultures were positive for methicillin-sensitive Staphylococcus aureus. Massive right atrial thrombosis with pulmonary embolism and bacterial endocarditis were detected by computed tomography. Surgery with a beating heart and cardiopulmonary bypass was undertaken. Drepanocytic anemia in individuals homozygous for hemoglobin S is a rare condition in Spain but we are beginning to see a few cases, in which management during anesthesia will be more complicated. High-risk surgery can be carried out in these patients without adverse events if the anesthesiologist is guided by a complete blood workup and takes precautions during and after surgery to control hydration, oxygenation, temperature, and the acid-base balance. PMID:22046869

  5. Menstrual cycle, sex hormones in female inflammatory bowel disease patients with and without surgery.

    PubMed

    Bharadwaj, Shishira; Kulkarni, Geeta; Shen, Bo

    2015-05-01

    Healthy women at reproductive age experience a cyclical alteration of gastrointestinal (GI) symptomatology during their menstrual cycle. Additionally, the majority of healthy women also complain of worsening of GI symptoms either during the premenstrual or menstrual phase. Despite conflicting evidence, studies suggest that sex hormones may increase GI transit time during the luteal phase. Similar phenomenon is also observed in women with underlying inflammatory bowel disease (IBD). The mechanism underlying this complex pathophysiology is still not completely understood. However, a possible influence of sex hormones on the brain-gut-microbiota axis is hypothesized. The diagnosis of IBD is associated with a delay in menarche as well as menstrual function irregularities including alterations in cycle length and the duration of flow. There is little data on the effect of menopause on IBD disease activity and conflicting data on the effect of IBD diagnosis on the onset of menopause. The role of contraceptives and hormone replacement therapies on the development or disease activity of IBD has not been yet established. Moreover, IBD patients with concomitant dysmenorrhea report heightened pain during menses. The effect of non-steroidal anti-inflammatory drugs in treating primary dysmenorrhea on the disease course of IBD is unknown. In addition, the effect of IBD medications including immunomodulators and biologics on menstrual function remains unclear. Also, the role of IBD surgery on menstrual irregularities needs to be fully elucidated. Hence, understanding the influence of menstrual function on IBD disease activity and vice versa and the maintenance of normal menstrual function in those patients is important in improving overall reproductive health and fertility and outcome of IBD. PMID:25851437

  6. Unusual high levels of ciclosporin in a female patient--the impact of lifestyle?

    PubMed

    Jürgen Roth, Heinz; Wintergalen, Michael

    2005-01-01

    Continuous monitoring of ciclosporin whole blood levels is essential to be aware of any change in drug pharmacokinetics due to interaction with additionally applied drugs, phytochemical drugs or nutritional and environmental factors. While monitoring ciclosporin levels in a 23-year old Caucasian woman diagnosed to have focal segmental glomerulosclerosis a 6-fold higher value than expected was measured. Because the kind and the dose of prescribed drugs were unchanged a drug to drug interaction could be ruled out. Additionally, phytochemical drugs, antibiotics, antimycotics or nutritional factors such as grapefruit juice as well as alcohol and tobacco were denied by the patient. She kept her protein and sodium poor diet free of citrus fruits, rare in meat and rich in vegetables unchanged before and during the course of the unexpected high ciclosporin levels. As the elevated ciclosporin levels were closely related to her cooking habits by means of a brand new steamer we advised her to refrain from preparing her vegetarian meals in this steamer. Since then ciclosporin levels were again in relation to the administered dosage without any episode of unexpected high ciclosporin values. Repeating the experiment some weeks later no episode of unexpected high ciclosporin values occurred. Unfortunately we could only identify the cause (steamer) but not the definite reason why. The report illustrates that the bioavailability of ciclosporin may not only be influenced by drug to drug interactions with prescribed or phytochemical drugs and herbal remedies but also by some yet unknown or unidentified factors or chemicals induced or altered by eating and cooking behavior or lifestyle in general. Therefore a careful assessment of the patient's anamnestic data and lifestyle combined with an unorthodox way of thinking as well as close-meshed drug monitoring is essential to obtain the desired pharmacologic effects and to avoid adverse toxic effects. PMID:16122154

  7. Can a Female Donor for a Male Recipient Decrease Relapse Rate for Patients with AML Treated with Allogeneic Hematopoietic Stem Cell Transplantation?

    PubMed Central

    Kongtim, Piyanuch; Di Stasi, Antonio; Rondon, Gabriela; Chen, Julianne; Adekola, Kehinde; Popat, Uday; Oran, Betul; Kebriaei, Partow; Andersson, Borje S.; Champlin, Richard E.; Ciurea, Stefan O.

    2015-01-01

    The mismatched minor histocompatibility antigens present on Y chromosome (H-Y) in male recipients receiving stem cells from female donors may contribute to graft-versus-leukemia effect (GVL) and results in reduce relapse rate especially in patients with high-risk disease. We retrospectively compared the outcomes of male AML patients who received an allogeneic hematopoietic stem cell transplant (HSCT) from female donors (F-M) (174 patients) versus other gender combinations (667 patients). Median age was 50 years (range 18–74 years). For the whole group, the one-year cumulative incidence of relapse was significantly lower in F-M group (34.1% versus 41.3%, p=0.044) while non-relapse mortality (NRM) was higher (23.2% versus 15.7%, p=0.004). For patients younger than 50 years beyond first complete remission, the F-M group was associated with lower relapse rate (42.5% versus 55.2%, p=0.045) whereas NRM was not significantly different (35.8% versus 25.5%, p=0.141). Although survival was not significantly improved, transplantation from a female donor for male recipient was associated with a lower relapse rate. When relapse is most common concern for treatment failure, especially for younger patients, a female donor for a male recipient might be beneficial to decrease relapse rate post-transplant. Future studies are needed to explore how H-Y mismatch may improve survival post-transplant. PMID:25540936

  8. Transformation optics with Fabry-Pérot resonances

    NASA Astrophysics Data System (ADS)

    Sadeghi, M. M.; Li, Sucheng; Xu, Lin; Hou, Bo; Chen, Huanyang

    2015-03-01

    Transformation optics is a powerful tool to design various novel devices, such as invisibility cloak. Fantastic effects from this technique are usually accompanied with singular mappings, resulting in challenging implementations and narrow bands of working frequencies. Here in this article, Fabry-Pérot resonances in materials of extreme anisotropy are used to design various transformation optical devices that are not only easy to realize but also work well for a set of resonant frequencies (multiple frequencies). As an example, a prototype of a cylindrical concentrator is fabricated for microwaves.

  9. Holographic liquid crystal polarization grating with Fabry-Perot structure.

    PubMed

    Sakamoto, Moritsugu; Yamaguchi, Haruki; Noda, Kohei; Sasaki, Tomoyuki; Kawatsuki, Nobuhiro; Ono, Hiroshi

    2016-03-15

    A holographic liquid crystal polarization grating with a Fabry-Perot structure was developed. Because of its resonant structure, the device offers high levels of control of the diffraction properties of incident-polarized light beams, depending on the resonance conditions. The diffracted light beams are emitted in both the reflection and transmission directions, and the device thus works as a multibranch polarization grating with double optical paths, unlike a conventional polarization grating. These device features were experimentally demonstrated and were also explained theoretically. PMID:26977643

  10. Transformation optics with Fabry-Pérot resonances

    PubMed Central

    Sadeghi, M. M.; Li, Sucheng; Xu, Lin; Hou, Bo; Chen, Huanyang

    2015-01-01

    Transformation optics is a powerful tool to design various novel devices, such as invisibility cloak. Fantastic effects from this technique are usually accompanied with singular mappings, resulting in challenging implementations and narrow bands of working frequencies. Here in this article, Fabry-Pérot resonances in materials of extreme anisotropy are used to design various transformation optical devices that are not only easy to realize but also work well for a set of resonant frequencies (multiple frequencies). As an example, a prototype of a cylindrical concentrator is fabricated for microwaves. PMID:25726924

  11. Alignment locking to suspended Fabry-Perot cavity

    NASA Astrophysics Data System (ADS)

    Slagmolen, Bram J. J.; Barton, Mark; Mow-Lowry, Conor; de Vine, Glenn; Rabeling, David S.; Chow, Jong H.; Romann, Albert; Zhao, Chunnong; Gray, Malcolm B.; McClelland, David E.

    2005-09-01

    In this paper we report on the alignment locking of an in vacuum 77 m long suspended mirror Fabry-Perot cavity. Lock was achieved by mode-matching a 500 mW Nd:YAG NPRO onto a pre-mode cleaner, the output of which was then mode-matched to the suspended cavity. The longitudinal locking was achieved by feeding back to the laser frequency actuator to follow the cavity resonance. Subsequent implementation of a hybrid auto-alignment system enhanced the stability of the circulating power inside the cavity. Preliminary results are presented.

  12. Multichannel Fabry-Perot spectrometer for infrared astronomy

    NASA Technical Reports Server (NTRS)

    Jennings, Donald E.; Boyle, R. J.

    1986-01-01

    A multichannel design which makes use of the radiation normally rejected in a Fabry-Perot spectrometer is described, with application to infrared astronomy. The present optical design minimizes the diameters of the etalon and optics. The use of spherical mirrors ensures that no radiation is lost through the entrance aperture, and the beams can be completely collimated at the etalon. Laboratory studies demonstrate that the ability to employ eight channels increases by a factor of four the flux integrated during a given time period compared with that of a single-channel instrument. The spectrometer is nondispersive, and the source can be imaged at each of several output spectral positions.

  13. Stable fiber-based Fabry-Perot cavity

    SciTech Connect

    Steinmetz, T.; Colombe, Y.; Hunger, D.; Haensch, T. W.; Balocchi, A.; Warburton, R. J.; Reichel, J.

    2006-09-11

    The development of a fiber-based, tunable optical cavity with open access is reported. The cavity is of the Fabry-Perot type and is formed with miniature spherical mirrors positioned on the end of single- or multimode optical fibers by a transfer technique, which involves lifting a high-quality mirror from a smooth convex substrate, either a ball lens or microlens. The cavities typically have a finesse of {approx}1000 and a mode volume of 600 {mu}m{sup 3}. The detection of small ensembles of cold Rb atoms guided through such a cavity on an atom chip is demonstrated.

  14. Female partners of patients after surgical prostate cancer treatment: interactions with physicians and support needs

    PubMed Central

    2010-01-01

    Background Few studies have explored the women's experiences as a result of a partners' diagnosis of prostate cancer. This study begins to explore women's interactions with physicians (primary care and urologist) and the support needs associated with the diagnosis and treatment of their partners' prostate cancer. Methods Two focus groups (n = 14) of women whose partners were diagnosed with prostate cancer (diagnoses' 1 - 18 months). A trained facilitator used open-ended questions to explore ideas. The framework approach was used to analyze the transcripts. Results Three main themes emerged: 1. More support. Validation and information is needed for women including emotional support and opportunities to share experiences. 2. Role of the physician. The transfer of care once specialized treatment is no longer needed remained poorly defined, which increased confusion and feelings of abandonment related to the role of the primary physician. 3. Partners' relationship changes. Men became more dependent on their partners for support and to act as the primary communicator and caregiver. Conclusions Additional research is needed in this field to confirm the importance of training primary care physicians to consider holistic treatment approaches that recognize the partner and family needs as important in the complete physical and emotional healing of their patients. PMID:20211019

  15. Long Term Remission of Anorexia Nervosa: Factors Involved in the Outcome of Female Patients

    PubMed Central

    Espíndola, Cybele R.; Blay, Sergio L.

    2013-01-01

    Background Anorexia nervosa (AN) is usually marked by difficult recovery. Objective To elicit, describe and characterize factors involved in successful AN remission for at least five years and post-recovery life. Methods A qualitative study design using semi-structured interviews according to grounded theory methodology was used. An intentional sample of 15 information rich AN patients was selected using two sampling procedures: the criterion and “snowball” techniques. Qualitative interviews were audiotaped, transcribed, and entered into a content analysis. Researchers coded transcripts and developed themes. Results Four core parameters were found to be associated with remission: (i) ‘motivation to change/stimuli’; (ii) ‘empowerment/autonomy’; (iii) ‘media related factors’; (iv) ‘treatment factors’. Clinical remission can be associated with residual symptoms. Conclusions The recovery model involves not only one, but rather a set of inter-active variables, each one can partially explain remission. Media factors can take a new role on recovery. Remission, however, can be followed by remnants of the disease and functional limitations. PMID:23460796

  16. Self-Reported Sexual Function Measures Administered to Female Cancer Patients: A Systematic Review, 2008–2014

    PubMed Central

    Jeffery, Diana D.; Barbera, Lisa; Andersen, Barbara L.; Siston, Amy K.; Jhingran, Anuja; Baron, Shirley R.; Reese, Jennifer Barsky; Coady, Deborah J.; Carter, Jeanne; Flynn, Kathryn E.

    2016-01-01

    Background A systematic review was conducted to identify and characterize self-reported sexual function (SF) measures administered to women with a history of cancer. Methods Using 2009 PRISMA guidelines, we searched electronic bibliographic databases for quantitative studies published January 2008–September 2014 that used a self-reported measure of SF, or a quality of life (QOL) measure that contained at least one item pertaining to SF. Results Of 1,487 articles initially identified, 171 were retained. The studies originated in 36 different countries with 23% from U.S.-based authors. Most studies focused on women treated for breast, gynecologic, or colorectal cancer. About 70% of the articles examined SF as the primary focus; the remaining examined QOL, menopausal symptoms, or compared treatment modalities. We identified 37 measures that assessed at least one domain of SF, eight of which were dedicated SF measures developed with cancer patients. Almost one-third of the studies used EORTC QLQ modules to assess SF, and another third used the Female Sexual Function Inventory. There were few commonalities among studies, though nearly all demonstrated worse SF after cancer treatment or compared to healthy controls. Conclusions QOL measures are better suited to screening while dedicated SF questionnaires provide data for more in depth assessment. This systematic review will assist oncology clinicians and researchers in their selection of measures of SF and encourage integration of this quality of life domain in patient care. PMID:25997102

  17. Effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness of female patients with metabolic syndrome

    PubMed Central

    Kang, Seol-Jung; Kim,, Eon-ho; Ko, Kwang-Jun

    2016-01-01

    [Purpose] The purpose of this study was to investigate the effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness or female patients with metabolic syndrome. [Subjects and Methods] Subjects were randomly assigned to an exercise group (n=12) or a control group (n=11). Subjects in the exercise group performed aerobic exercise at 60–80% of maximum heart rate for 40 min 5 times a week for 12 weeks. The changes in metabolic syndrome risk factors, resting heart rate, physical fitness, and arterial stiffness were measured and analyzed before and after initiation of the exercise program to determine the effect of exercise. Arterial stiffness was assessed based on brachial-ankle pulse wave velocity (ba-PWV). [Results] Compared to the control group; The metabolic syndrome risk factors (weight, % body fat, waist circumference, systolic blood pressure, diastolic blood pressure, and HDL-Cholesterol) were significantly improved in the exercise: resting heart rate was significantly decreased; VO2max, muscle strength and muscle endurance were significantly increased; and ba-PWV was significantly decreased. [Conclusion] Aerobic exercise had beneficial effects on the resting heart rate, physical fitness, and arterial stiffness of patients with metabolic syndrome. PMID:27390411

  18. Effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness of female patients with metabolic syndrome.

    PubMed

    Kang, Seol-Jung; Kim, Eon-Ho; Ko, Kwang-Jun

    2016-06-01

    [Purpose] The purpose of this study was to investigate the effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness or female patients with metabolic syndrome. [Subjects and Methods] Subjects were randomly assigned to an exercise group (n=12) or a control group (n=11). Subjects in the exercise group performed aerobic exercise at 60-80% of maximum heart rate for 40 min 5 times a week for 12 weeks. The changes in metabolic syndrome risk factors, resting heart rate, physical fitness, and arterial stiffness were measured and analyzed before and after initiation of the exercise program to determine the effect of exercise. Arterial stiffness was assessed based on brachial-ankle pulse wave velocity (ba-PWV). [Results] Compared to the control group; The metabolic syndrome risk factors (weight, % body fat, waist circumference, systolic blood pressure, diastolic blood pressure, and HDL-Cholesterol) were significantly improved in the exercise: resting heart rate was significantly decreased; VO2max, muscle strength and muscle endurance were significantly increased; and ba-PWV was significantly decreased. [Conclusion] Aerobic exercise had beneficial effects on the resting heart rate, physical fitness, and arterial stiffness of patients with metabolic syndrome. PMID:27390411

  19. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.

    PubMed

    Bhanushali, Aparna A; Mandsaurwala, A; Das, Bibhu R

    2016-03-01

    Rett syndrome is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of Rett syndrome. Sequencing of the MECP2 gene in a patient with clinical suspicion of Rett syndrome revealed c.1160C>T (P387L) in exon 4 of the MECP2 gene homozygously. Females with Rett syndrome are usually heterozygous for a mutation in MECP2. Uniparental disomy as a probable cause for the homozygous presence of this mutation was ruled out by quantitative fluorescence-polymerase chain reaction. Moreover to our knowledge this mutation has only been reported in males with X-linked mental retardation (MRX). We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. This novel report reveals for the first time the homozygous presence of a mutation which has hitherto only been reported in males with MRX. PMID:26755454

  20. Passive body heating improves sleep patterns in female patients with fibromyalgia

    PubMed Central

    Silva, Andressa; de Queiroz, Sandra Souza; Andersen, Monica Levy; Mônico-Neto, Marcos; da Silveira Campos, Raquel Munhoz; Roizenblatt, Suely; Tufik, Sergio; de Mello, Marco Túlio

    2013-01-01

    OBJECTIVE: To assess the effect of passive body heating on the sleep patterns of patients with fibromyalgia. METHODS: Six menopausal women diagnosed with fibromyalgia according to the criteria determined by the American College of Rheumatology were included. All women underwent passive immersion in a warm bath at a temperature of 36±1°C for 15 sessions of 30 minutes each over a period of three weeks. Their sleep patterns were assessed by polysomnography at the following time-points: pre-intervention (baseline), the first day of the intervention (acute), the last day of the intervention (chronic), and three weeks after the end of the intervention (follow-up). Core body temperature was evaluated by a thermistor pill during the baseline, acute, chronic, and follow-up periods. The impact of this treatment on fibromyalgia was assessed via a specific questionnaire termed the Fibromyalgia Impact Questionnaire. RESULTS: Sleep latency, rapid eye movement sleep latency and slow wave sleep were significantly reduced in the chronic and acute conditions compared with baseline. Sleep efficiency was significantly increased during the chronic condition, and the awakening index was reduced at the chronic and follow-up time points relative to the baseline values. No significant differences were observed in total sleep time, time in sleep stages 1 or 2 or rapid eye movement sleep percentage. The core body temperature and Fibromyalgia Impact Questionnaire responses did not significantly change over the course of the study. CONCLUSION: Passive body heating had a positive effect on the sleep patterns of women with fibromyalgia. PMID:23525306

  1. Proximal Femoral Geometry as Fracture Risk Factor in Female Patients with Osteoporotic Hip Fracture

    PubMed Central

    Han, Jun

    2016-01-01

    Background Proximal femoral geometry may be a risk factor of osteoporotic hip fractures. However, there existed great differences among studies depending on race, sex and age of subjects. The purpose of the present study is to analyze proximal femoral geometry and bone mineral density (BMD) in the osteoporotic hip fracture patients. Furthermore, we investigated proximal femoral geometric parameters affecting fractures, and whether the geometric parameters could be an independent risk factor of fractures regardless of BMD. Methods This study was conducted on 197 women aged 65 years or more who were hospitalized with osteoporotic hip fracture (femur neck fractures ; 84, intertrochanteric fractures; 113). Control group included 551 women who visited to check osteoporosis. Femur BMD and proximal femoral geometry for all subjects were measured using dual energy X-ray absorptiometry (DXA), and compared between the control and fracture groups. Besides, proximal femoral geometric parameters associated with fractures were statistically analyzed. Results There were statistically significant differences in the age and weight, cross-sectional area (CSA)/length/width of the femoral neck and BMD of the proximal femur between fracture group and control group. BMD of the proximal femur in the control group was higher than in the fracture group. For the femoral neck fractures group, the odds ratio (OR) for fractures decrease in the CSA and neck length (NL) of the femur increased by 1.97 times and 1.73 times respectively, regardless of BMD. The OR for fractures increase in the femoral neck width increased by 1.53 times. In the intertrochanteric fracture group, the OR for fractures increase in the femoral neck width increased by 1.45 times regardless of BMD. Conclusions We found that an increase of the femoral neck width could be a proximal femoral geometric parameter which plays important roles as a risk factor for fracture independently of BMD. PMID:27622182

  2. Body composition in young female eating-disorder patients with severe weight loss and controls: evidence from the four-component model and evaluation of DXA

    PubMed Central

    Wells, J C K; Haroun, D; Williams, J E; Nicholls, D; Darch, T; Eaton, S; Fewtrell, M S

    2015-01-01

    Background/Objectives: Whether fat-free mass (FFM) and its components are depleted in eating-disorder (ED) patients is uncertain. Dual energy X-ray absorptiometry (DXA) is widely used to assess body composition in pediatric ED patients; however, its accuracy in underweight populations remains unknown. We aimed (1) to assess body composition of young females with ED involving substantial weight loss, relative to healthy controls using the four-component (4C) model, and (2) to explore the validity of DXA body composition assessment in ED patients. Subjects/Methods: Body composition of 13 females with ED and 117 controls, aged 10–18 years, was investigated using the 4C model. Accuracy of DXA for estimation of FFM and fat mass (FM) was tested using the approach of Bland and Altman. Results: Adjusting for age, height and pubertal stage, ED patients had significantly lower whole-body FM, FFM, protein mass (PM) and mineral mass (MM) compared with controls. Trunk and limb FM and limb lean soft tissue were significantly lower in ED patients. However, no significant difference in the hydration of FFM was detected. Compared with the 4C model, DXA overestimated FM by 5±36% and underestimated FFM by 1±9% in ED patients. Conclusion: Our study confirms that ED patients are depleted not only in FM but also in FFM, PM and MM. DXA has limitations for estimating body composition in individual young female ED patients. PMID:26173868

  3. Hydrocarbon gas detection with microelectromechanical Fabry-Perot interferometer

    NASA Astrophysics Data System (ADS)

    Mannila, Rami; Tuohiniemi, Mikko; Mäkynen, Jussi; Näkki, Ismo; Antila, Jarkko

    2013-05-01

    VTT Technical Research Centre of Finland has developed microelectromechanical (MEMS) Fabry-Perot interferometer (FPI) for hydrocarbon measurements. Fabry-Perot interferometer is a structure where is two highly reflective surfaces separated by a tunable air gap. The MEMS FPI is a monolithic device, i.e. it is made entirely on one substrate in a batch process, without assembling separate pieces together. The gap is adjusted by moving the upper mirror with electrostatic force, so there are no actual moving parts. The manufactured MEMS FPIs have been characterized. The tuning wavelength range of the MEMS FPI is 2.8-3.5 μm and its spectral resolution is 50-60 nm. VTT has designed and manufactured a handheld size demonstrator device based on the technology presented in this abstract. This device demonstrates gas detecting by measuring cigarette lighter gas and various plastic materials transmission spectra. The demonstrator contains light source, gas cell, MEMS FPI, detector and control electronics. It is connected to a laptop by USB connection, additional power supply or connection is not needed.

  4. The IRAF Fabry-Perot analysis package: Ring fitting

    NASA Technical Reports Server (NTRS)

    Shopbell, P. L.; Bland-Hawthorn, J.; Cecil, G.

    1992-01-01

    As introduced at ADASSI, a Fabry-Perot analysis package for IRAF is currently under development as a joint effort of ourselves and Frank Valdes of the IRAF group. Although additional portions of the package were also implemented, we report primarily on the development of a robust ring fitting task, useful for fitting the calibration rings obtained in Fabry-Perot observations. The general equation of an ellipse is fit to the shape of the rings, providing information on ring center, ellipticity, and position angle. Such parameters provide valuable information on the wavelength response of the etalon and the geometric stability of the system. Appropriate statistical weighting is applied to the pixels to account for increasing numbers with radius, the Lorentzian cross-section, and uneven illumination. The major problems of incomplete, non-uniform, and multiple rings are addressed with the final task capable of fitting rings regardless of center, cross-section, or completion. The task requires only minimal user intervention, allowing large numbers of rings to be fit in an extremely automated manner.

  5. Evaluation of antioxidant status of female diabetic patients in Nnamdi Azikiwe University Teaching Hospital, Anambra State, Nigeria.

    PubMed

    Okuonghae, E O P; Onyenekwe, C C; Ahaneku, J E; Ukibe, N R; Nwani, P O; Asomugha, A L; Osakue, N O; Aidomeh, F; Awalu, C C

    2015-01-01

    Diabetes mellitus has become an onerous disease to developing countries such as Nigeria. Rapid acceptance of urbanisation and sedentary life styles pose an encumbrance to its prevention and management. Increased oxidative stress in diabetes mellitus has been implicated as a culprit in perpetuating antioxidant depletion and diabetic complications in diabetes mellitus individuals. This study aims to evaluate the level of antioxidant status in type 2 diabetes mellitus (DM) female participants visiting the out-patient diabetic clinic of Nnamdi Azikiwe University Teaching Hospital (NAUTH), Nnewi, Anambra State, Nigeria. A total of 86 participants aged 51±10 years were recruited for this study. The test group consists of 43 already confirmed type 2 diabetes mellitus females, while the control group consists of 43 apparently healthy females. The test subjects were further subgrouped into good and poor glycaemic control groups, using a cut-off of <7% for HbA1c. Whole blood was collected from participants and aliquoted into specified sample containers for analysis of the following parameters: random blood glucose (RBG; mg/dL), glycosylated haemoglobin (HbA1c; %), glutathione reductase (GR; U/L) and total antioxidant status (TAS; mmol/L). Results from this study showed that the mean differences in RBG (197.74±49.29 mg/dL) and HbA1c (9.86±1.44%) were significantly higher in the test group compared to the control group RBG (104.79±11.33 mg/dL) and HbA1c (5.21±1.23%) (P<0.05). The mean differences of GR (45.81±20.45 U/L) and TAS (1.81±1.04 mmol/L) were significantly lower in the test group compared to the control group GR (61.21±14.34 U/L) and TAS (2.73±2.08 mmol/L) (P<0.05). The poor glycaemic test group was observed to have the highest RBG (200.34±50.4 mg/dL) and HbA1c (10.23±1.33%) compared both to good glycaemic test group RBG (186.38±45.39 mg/dL), HbA1c (6.54±0.45%) and non-diabetic group RBG (104.79±11.33 mg/dL) and HbA1c (5.21±1.23%) (P<0.05). Glutathione

  6. [Normalization of hypercholesterolemia in a female stroke patient after switching from enteral tube feeding to oral feeding].

    PubMed

    Takahashi, R; Kanemaru, A; Yamanaka, T; Sakurai, Y; Mochizuki, N; Matsukura, T; Fujitomi, A; Ashikawa, S

    1996-02-01

    A 70-year-old female was admitted to a general hospital in a rural area due to left putamenal cerebral hemorrhage in December 1994. She had right hemiplegia and was totally aphasic. In May 1995, she was moved to Tokyo where her son lives, and she was admitted to Tokyo Metropolitan Geriatric Hospital in order to prepare a home care system. her family's support (serving her favorite dishes) allowed enteral tube feeding to be halted. After one month she could absorb enough energy to maintain her serum albumin level. The total calories ingested orally was comparable to that of enteral feeding but the fat composition was 62% of that of enteral feeding (fat was 19.6% and 31.7% of the total calories in the two diets, respectively). Her cholesterol level decreased from 286 mg/dl to 197 mg/dl. Nutrient-balanced tube feeding is useful, but may disturb lipid metabolism in patients used to having vegetable-rich diets. PMID:8656578

  7. Ectopic congenital bronchogenic cyst accompanied by infection appearing in the cervical region of an elderly female patient: A case report

    PubMed Central

    LIU, ZHONGLONG; TIAN, ZHUOWEI; ZHANG, CHENPING; HE, YUE

    2016-01-01

    Bronchogenic cysts (BCs) are rare congenital cystic lesions arising as a development malformation in the trachea-bronchial system during the embryonic period. The cysts mostly occur in the mediastinum, with an extremely low morbidity rate in the oromaxillofacial-head and neck region. The age distribution of patients who present with BCs shows a significant predominance towards young individuals compared with the elderly. The current study reports the case a 70-year-old female who presented with a painful mass in the right cervical region. Pre-operative computed tomography (CT) and ultrasound showed a heterogeneous hypodense cystic lesion accompanied by infection. A mass of gaseous density was observed on repeat CT following antibiotic therapy. The pathological examination after complete resection revealed a BC, which can also be easily misdiagnosed as common congenital cervical cysts, such as a branchial cleft cyst or a thyroglossal duct cyst, among others. There was no recurrence or any discomfort during the 34-month follow-up period. PMID:26893692

  8. CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

    PubMed Central

    Kramer, Jamie M.; Merkx, Gerard; Lugtenberg, Dorien; Smeets, Dominique F.; Oortveld, Merel A. W.; Blokland, Ellen A. W.; Agrawal, Jyoti; Schenck, Annette; van Bokhoven, Hans; Huys, Erik; Schoenmakers, Eric F.; van Kessel, Ad Geurts; van Nouhuys, C. Erik

    2010-01-01

    Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21. Fluorescence in situ hybridization analysis narrowed down the region around the breakpoints, and the breakpoint at 6q21 was found to disrupt the CDK19 gene. CDK19 was found to be expressed in a diverse range of tissues including fetal eye and fetal brain. Quantitative PCR of the CDK19 transcript from Epstein–Barr virus-transformed lymphoblastoid cell lines of the patient revealed ~50% reduction in the transcript (p = 0.02), suggesting haploinsufficiency of the gene. cdk8, the closest orthologue of human CDK19 in Drosophila has been shown to play a major role in eye development. Conditional knock-down of Drosophila cdk8 in multiple dendrite (md) neurons resulted in 35% reduced dendritic branching and altered morphology of the dendritic arbour, which appeared to be due in part to a loss of small higher order branches. In addition, Cdk8 mutant md neurons showed diminished dendritic fields revealing an important role of the CDK19 orthologue in the developing nervous system of Drosophila. This is the first time the CDK19 gene, a component of the mediator co-activator complex, has been linked to a human disease. PMID:20563892

  9. Association between estrogen receptor alpha gene polymorphisms and bone mineral density in Polish female patients with Graves' disease.

    PubMed

    Ignaszak-Szczepaniak, Magdalena; Horst-Sikorska, Wanda; Dytfeld, Joanna; Gowin, Ewelina; Słomski, Ryszard; Stajgis, Marek

    2011-01-01

    Graves' (GD) hyperthyroidism leads to reduced bone mineral density (BMD) accompanied by accelerated bone turnover. Ample studies have identified association between estrogen receptor (ESR1) gene polymorphism and decreased BMD and osteoporosis. In contrast, number of publications that link ESR1, BMD and Graves' disease is limited. The purpose of this study was to identify the association between ESR1 polymorphisms and BMD in premenopausal women with GD and to determine whether ESR1 polymorphic variants can predispose to GD. The study included 75 women aged 23-46 years with GD and 163 healthy controls. BMD was measured at lumbar spine and femoral neck. We investigated two SNPs in the ESR1 gene and analyzed genetic variants in the form of haplotypes reconstructed by statistical method. Three out of four possible haplotypes of the PvuII and XbaI restriction fragment length polymorphisms were found in GD patients: px (55.3 %), PX (33.3 %) and Px (11.4 %). Women homozygous for xx of XbaI and for pp of PvuII had the lowest BMD at lumbar spine. Moreover, the px haplotype predisposed to reduced lumbar BMD. No associations were observed for femoral neck BMD. No statistically significant relationship were found between ESR1 polymorphisms or their haplotypes and GD. These results indicate that the PvuII and the XbaI polymorphisms of ESR1 gene are associated with bone mineral density in premenopausal women with GD and may help to estimate the risk of bone loss particularly at lumbar spine. However, none of the ESR1 gene alleles predict the risk of GD in Polish female patients. PMID:21423915

  10. Risk of Second Non-Breast Primary Cancer in Male and Female Breast Cancer Patients: A Population-Based Cohort Study

    PubMed Central

    Teng, Chung-Jen; Hu, Yu-Wen; Yeh, Chiu-Mei; Chen, San-Chi; Chien, Sheng-Hsuan; Hung, Yi-Ping; Shen, Cheng-Che; Chen, Tzeng-Ji; Tzeng, Cheng-Hwai; Liu, Chun-Yu

    2016-01-01

    Female breast cancer patients have an increased risk of developing subsequent malignant diseases, but this issue is rarely discussed in regards to male breast cancer patients. Thus, we conducted a national survey that included 100,915 female and 578 male breast cancer patients to investigate the risk of second primary malignancy (SPM). During a follow-up period that included 529,782 person-years, 3,153 cases of SPM developed. Compared with the general population, the standardized incidence ratio (SIR) of SPM in breast cancer patients was 1.51 [95% confidence interval (CI): 1.46–1.56]. The observed risk was significantly higher in male patients (SIR 2.17, 95% CI 1.70–2.73) and in patients whose age at breast cancer diagnosis was 40 years or younger (SIR 3.39, 95% CI 2.80–4.07), comparing to age-matched general population. Compared with the overall female population, the SIRs of female breast cancer patients with uterine (SIR: 2.66, 95% CI: 2.37–2.98), thyroid (SIR: 2.30, 95% CI: 2.02–2.62), and bone and soft tissue (SIR: 2.16, 95% CI: 1.56–2.91) cancers were significantly increased. Male breast cancer patients also displayed significantly higher SIRs for thyroid (SIR: 13.2, 95% CI: 1.60–47.69), skin (SIR: 8.24, 95% CI: 3.02–17.94) and head and neck (SIR: 4.41, 95% CI: 2.35–7.54) cancers. Among breast cancer patients, risk factors significantly associated with SPM included male gender, older age, chemotherapy treatment and comorbidity with liver cirrhosis. From our analysis, we concluded that the risk of SPM was significantly higher for both male and female breast cancer patients compared with the general population, suggesting that more intensive surveillance may be needed, especially in high-risk patients. PMID:26894298

  11. Age-Group-Specific Associations between the Severity of Obstructive Sleep Apnea and Relevant Risk Factors in Male and Female Patients

    PubMed Central

    Deng, Xingqi; Gu, Wei; Li, Yanyan; Liu, Mei; Li, Yan; Gao, Xiwen

    2014-01-01

    Aim To seek accurate and credible correlation manner between gender, age, and obesity; and the severity of obstructive sleep apnea (OSA) in large-scale population. Methods Totals of 1,975 male and 378 female OSA patients were sequentially recruited. Centralized covariant tendencies between age, body mass index (BMI), and waist hip ratio (WHR); and OSA severity, were explored in a gender-specific manner via multiple statistical analyses. The accuracies of observed correlations were further evaluated by adaptive multiple linear regression. Results All of age, BMI, WHR, smoking, drinking, and OSA severity differed between males and females. BMI and WHR were positively and (approximately) linearly associated with OSA severity in both males and females. Restricted cubic spline analysis was more effective than was the Pearson correlation approach in correlating age with AHI, and provided age crossover points allowing further piecewise linear modeling for both males and females. Multiple linear regression showed that increasing age was associated with OSA exacerbation in males aged ≤40 years and in females aged 45–53 years. BMI, WHR, and diabetes were independently associated with OSA severity in males with age-group-specific pattern. In females, only BMI was associated with OSA severity at all ages. Conclusions In male patients, BMI and WHR are prominent risk factors for OSA exacerbation. Age and diabetes are associated with OSA severity in males of particular ages. In females, BMI is also a prominent risk factor for severe OSA, and OSA severity increased with age in the range 45–53 years. PMID:25211035

  12. A novel Michelson Fabry-Perot hybrid interference sensor based on the micro-structured fiber

    NASA Astrophysics Data System (ADS)

    Zhang, Yaxun; Zhang, Yu; Wang, Zhenzhen; Liu, Zhihai; Wei, Yong; Zhao, Enming; Yang, Xinghua; Zhang, Jianzhong; Yang, Jun; Yuan, Libo

    2016-09-01

    We propose and demonstrate a novel Michelson Fabry-Perot hybrid fiber interference sensor. By integrating a Michelson interferometer in a two-core fiber and a Fabry-Perot interferometer in a micro silica-capillary, we produce the Michelson Fabry-Perot hybrid interference sensor. Owing to the structure characteristic of the micro-structured fiber, this hybrid fiber interference sensor can achieve the measurement of the axial strain and radial bending simultaneously. The measurement sensitivity of the axial train is 0.015 nm/με and the measurement sensitivity of the radial bending is 1.393 nm/m-1.

  13. Focused ion beam post-processing of optical fiber Fabry-Perot cavities for sensing applications.

    PubMed

    André, Ricardo M; Pevec, Simon; Becker, Martin; Dellith, Jan; Rothhardt, Manfred; Marques, Manuel B; Donlagic, Denis; Bartelt, Hartmut; Frazão, Orlando

    2014-06-01

    Focused ion beam technology is combined with chemical etching of specifically designed fibers to create Fabry-Perot interferometers. Hydrofluoric acid is used to etch special fibers and create microwires with diameters of 15 μm. These microwires are then milled with a focused ion beam to create two different structures: an indented Fabry-Perot structure and a cantilever Fabry-Perot structure that are characterized in terms of temperature. The cantilever structure is also sensitive to vibrations and is capable of measuring frequencies in the range 1 Hz - 40 kHz. PMID:24921506

  14. Superconducting electromagnetic actuators for astronomical Fabry-Perot interferometers

    NASA Technical Reports Server (NTRS)

    Nishimura, T.; Low, F. J.; Shivanandan, K.

    1985-01-01

    Two types of superconducting electromagnetic actuators linear and angular - for precise control of Fabry-Perot spectrometer etalons at liquid helium temperature were manufactured and tested successfully. The linear displacement unit (45 Newtons/Amp) has maximum travel of + or - 44 microns with off-axis deviation of less than 1.5 arcseconds for 15 microns path. The angular unit has maximum tilt of + or - 8 arcminutes and can maintain parallelism of two etalons to better than 0.3 arcsecond of angle by compensating the differential contraction upon cooling and off-axis deviation of the linear displacement unit. These actuators are proving especially useful in low temperature infrared instrumentation where other choices, such as piezoelectric crystals, fail and where essentially zero power dissipation permits low infrared backgrounds to be maintained along with long cryogenic lifetimes.

  15. Intrinsic Fabry-Pérot interferometric (IFPI) fiber pressure sensor

    NASA Astrophysics Data System (ADS)

    Ma, Cheng; Wang, Ning; Lally, Evan M.; Wang, Anbo

    2010-04-01

    An optical fiber Single/Multi-/Single-mode Intrinsic Fabry-Pérot Interferometer (SMS-IFPI) pressure sensor has been demonstrated using a silica tube-based pressure transducer hermetically sealed by thermal fusion bonding. The sensor, made entirely of fused silica, contains an IFPI strain sensor enclosed by a CO2 laser-bonded outer tube. A sensor prototype is constructed and demonstrated for single point pressure sensing at high temperature (600°C), with temperature compensation achieved through co-location of an SMS-IFPI temperature sensor. The inline geometry and low transmission loss of the SMS-IFPI sensor makes it suitable for frequency division multiplexing (FDM) in a single fiber branch. In future work, we envision multiplexing of up to eight such IFPI pressure sensors along a single fiber branch for quasi-distributed pressure measurement.

  16. Intrinsic Fabry-Perot optical fiber sensors and their multiplexing

    DOEpatents

    Wang, Anbo

    2007-12-11

    An intrinsic Fabry-Perot optical sensor includes a thin film sandwiched between two fiber ends. When light is launched into the fiber, two reflections are generated at the two fiber/thin film interfaces due to a difference in refractive indices between the fibers and the film, giving rise to the sensor output. In another embodiment, a portion of the cladding of a fiber is removed, creating two parallel surfaces. Part of the evanescent fields of light propagating in the fiber is reflected at each of the surfaces, giving rise to the sensor output. In a third embodiment, the refractive index of a small portion of a fiber is changed through exposure to a laser beam or other radiation. Interference between reflections at the ends of the small portion give rise to the sensor output. Multiple sensors along a single fiber are multiplexed using an optical time domain reflectometry method.

  17. Fourier transform spectrometer based on Fabry-Perot interferometer.

    PubMed

    Al-Saeed, Tarek A; Khalil, Diaa A

    2016-07-10

    We analyze the Fourier transform spectrometer based on a symmetric/asymmetric Fabry-Perot interferometer. In this spectrometer, the interferogram is obtained by recording the intensity as a function of the interferometer length. Then, we recover the spectrum by applying the discrete Fourier transform (DFT) directly on the interferogram. This technique results in spectral harmonic overlap and fictitious wavenumber components outside the original spectral range. For this purpose, in this work, we propose a second method to recover the spectrum. This method is based on expanding the DFT of the interferogram and the spectrum by a Haar or box function. By this second method, we recovered the spectrum and got rid of the fictitious spectral components and spectral harmonic overlap. PMID:27409306

  18. HTS Fabry-Perot resonators for the far infrared

    SciTech Connect

    Keller, P.; Prenninger, M.; Pechen, E.V.; Renk, K.F.

    1996-12-31

    The authors report on far infrared (FIR) Fabry-Perot resonators (FPR) with high temperature superconductor (HTS) thin films as mirrors. For the fabrication of FPR they use two parallel MgO plates covered with YBa{sub 2}Cu{sub 3}O{sub 7{minus}{delta}} thin films on adjacent sides. They have measured the far-infrared transmissivity at 10 K with a Fourier transform infrared spectrometer. Very sharp resonances can be observed for frequencies below 6 THz where the MgO is transparent. The finesse (width of the first order resonance) is comparable to the FPR with metallic meshes as reflectors that are applied in the FIR spectroscopy and astronomy. They have also shown that thin films of gold are not an adequate substitute to HTS thin films and not suitable for the fabrication of high-quality FPR due to the ohmic losses.

  19. Photoacoustic imaging using an 8-beam Fabry-Perot scanner

    NASA Astrophysics Data System (ADS)

    Huynh, Nam; Ogunlade, Olumide; Zhang, Edward; Cox, Ben; Beard, Paul

    2016-03-01

    The planar Fabry Perot (FP) photoacoustic scanner has been shown to provide exquisite high resolution 3D images of soft tissue structures in vivo to depths up to approximately 10mm. However a significant limitation of current embodiments of the concept is low image acquisition speed. To increase acquisition speed, a novel multi-beam scanner architecture has been developed. This enables a line of equally spaced 8 interrogation beams to be scanned simultaneously across the FP sensor and the photoacoustic signals detected in parallel. In addition, an excitation laser operating at 200Hz was used. The combination of parallelising the detection and the high pulse repetition frequency (PRF) of the excitation laser has enabled dramatic reductions in image acquisition time to be achieved. A 3D image can now be acquired in 10 seconds and 2D images at video rates are now possible.

  20. Optical tests of the LUTIN Fabry-Pérot prototype

    NASA Astrophysics Data System (ADS)

    Giovannelli, L.; Berrilli, F.; Del Moro, D.; Greco, V.; Piazzesi, R.; Sordini, A.; Stangalini, M.

    2014-12-01

    The soLar group University of Tor vergata fabry-perot INterferometer (LUTIN) is a narrow band filter based on an optical cavity resonator with Capacitance-Stabilised Etalon (CSE) control. The prototype, developed at the University of Rome Tor Vergata, is part of the study for the narrow band channel of the ADvanced Astronomy for HELIophysics (ADAHELI) mission designed to investigate the dynamics of solar atmosphere as part of the Italian Space Agency (ASI) Small Missions program. We developed the electro-mechanical control for the optical cavity, necessary for the tuning and the gap control of the instrument. We present the measures of the microroughness of the optical plates, performed with a Zygo interferometer, and the instrument spectral stability behaviour in on-optical-bench open-air mode. The measures refer to the upgraded version of the LUTIN prototype, which mounts the new λ/60 optical plates.

  1. Engineering photonic Floquet Hamiltonians through Fabry-Pérot resonators

    NASA Astrophysics Data System (ADS)

    Sommer, Ariel; Simon, Jonathan

    2016-03-01

    In this paper we analyze an optical Fabry-Pérot resonator as a time-periodic driving of the (2D) optical field repeatedly traversing the resonator, uncovering that resonator twist produces a synthetic magnetic field applied to the light within the resonator, while mirror aberrations produce relativistic dynamics, anharmonic trapping and spacetime curvature. We develop a Floquet formalism to compute the effective Hamiltonian for the 2D field, generalizing the idea that the intra-cavity optical field corresponds to an ensemble of non-interacting, massive, harmonically trapped particles. This work illuminates the extraordinary potential of optical resonators for exploring the physics of quantum fluids in gauge fields and exotic space-times.

  2. Millimeter-long fiber Fabry-Perot cavities.

    PubMed

    Ott, Konstantin; Garcia, Sebastien; Kohlhaas, Ralf; Schüppert, Klemens; Rosenbusch, Peter; Long, Romain; Reichel, Jakob

    2016-05-01

    We demonstrate fiber Fabry-Perot (FFP) cavities with concave mirrors that can be operated at cavity lengths as large as 1.5 mm without significant deterioration of the finesse. This is achieved by using a laser dot machining technique to shape spherical mirrors with ultralow roughness and employing single-mode fibers with large mode area for good mode matching to the cavity. Additionally, in contrast to previous FFPs, these cavities can be used over an octave-spanning frequency range with adequate coatings. We also show directly that shape deviations caused by the fiber's index profile lead to a finesse decrease as observed in earlier attempts to build long FFP cavities, and show a way to overcome this problem. PMID:27137597

  3. Micromachined fiber optic Fabry-Perot underwater acoustic probe

    NASA Astrophysics Data System (ADS)

    Wang, Fuyin; Shao, Zhengzheng; Hu, Zhengliang; Luo, Hong; Xie, Jiehui; Hu, Yongming

    2014-08-01

    One of the most important branches in the development trend of the traditional fiber optic physical sensor is the miniaturization of sensor structure. Miniature fiber optic sensor can realize point measurement, and then to develop sensor networks to achieve quasi-distributed or distributed sensing as well as line measurement to area monitoring, which will greatly extend the application area of fiber optic sensors. The development of MEMS technology brings a light path to address the problems brought by the procedure of sensor miniaturization. Sensors manufactured by MEMS technology possess the advantages of small volume, light weight, easy fabricated and low cost. In this paper, a fiber optic extrinsic Fabry-Perot interferometric underwater acoustic probe utilizing micromachined diaphragm collaborated with fiber optic technology and MEMS technology has been designed and implemented to actualize underwater acoustic sensing. Diaphragm with central embossment, where the embossment is used to anti-hydrostatic pressure which would largely deflect the diaphragm that induce interferometric fringe fading, has been made by double-sided etching of silicon on insulator. By bonding the acoustic-sensitive diaphragm as well as a cleaved fiber end in ferrule with an outer sleeve, an extrinsic Fabry-Perot interferometer has been constructed. The sensor has been interrogated by quadrature-point control method and tested in field-stable acoustic standing wave tube. Results have been shown that the recovered signal detected by the sensor coincided well with the corresponding transmitted signal and the sensitivity response was flat in frequency range from 10 Hz to 2kHz with the value about -154.6 dB re. 1/μPa. It has been manifest that the designed sensor could be used as an underwater acoustic probe.

  4. Oral Spironolactone in Post-teenage Female Patients with Acne Vulgaris: Practical Considerations for the Clinician Based on Current Data and Clinical Experience.

    PubMed

    Kim, Grace K; Del Rosso, James Q

    2012-03-01

    Oral spironolactone has been used for over two decades in the dermatological setting. Although it is not generally considered a primary option in the management of female patients with acne vulgaris, the increase in office visits by post-teenage women with acne vulgaris has recently placed a spotlight on the use of this agent in this subgroup of patients. This article reviews the literature focusing on the use of oral spironolactone in this subset of women with acne vulgaris, including discussions of the recommended starting dose, expected response time, adjustments in therapy, potential adverse effects, and patient monitoring. PMID:22468178

  5. Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.

    PubMed

    Delobel, Arnaud; Roy, Sandrine; Touboul, David; Gaudin, Karen; Germain, Dominique P; Baillet, Arlette; Brion, Françoise; Prognon, Patrice; Chaminade, Pierre; Laprévote, Olivier

    2006-01-01

    Globotriaosylceramides (Gb(3)) are biological compounds implicated in Fabry disease, a lysosomal storage disease due to the deficient activity of alpha-D-galactosidase A, which results in an accumulation of Gb(3) in many organs. The naturally occurring samples are composed of mixtures of several molecular species differing by the structure of the alkyl chains and the nature of the sphingoid base. Atmospheric pressure photoionization mass spectrometry (APPI-MS) proved to be an efficient method for the analysis of globotriaosylceramide molecular species, both in direct injection and by coupling with liquid chromatography (LC). In the positive ion mode, in-source fragmentations yield very precious information that can be used to determine the structure of the alkyl chains. In the negative ion mode, the chloroform solvent participates to the analyte ionization by forming an adduct with chloride ions generated in situ. Combination of LC on a Porous Graphitic Carbon stationary phase and APPI-MS allowed the detection of a great number of species from biological samples isolated from Fabry patients. This method could be an interesting analytical tool for the biochemical investigation of (sphingo) lipid metabolism. PMID:16287034

  6. [Female sexual disorders nowadays].

    PubMed

    Rajtman, Marta

    2013-01-01

    This article makes a brief overview of the most frequent female sexual disorders seen in our clinical practice. It highlights the increasing number of women presenting with hypoactive sexual desire and the efforts practitioners put on helping these female patients. The article also shows the pharmacological strategies that are investigated to solve these dysfuntions. PMID:24260752

  7. Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

    PubMed

    Odani, Keiko; Okumi, Masayoshi; Honda, Kazuho; Ishida, Hideki; Tanabe, Kazunari

    2016-07-01

    We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54-year-old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other than end stage renal disease. He underwent living-related kidney transplantation from his mother at age 40 years. Foam cells in the glomeruli were identified on histology assessment of a 0-hour allograft biopsy, with zebra bodies identified in the glomerular visceral epithelial cells by electron microscopy. These findings were indicative of Fabry disease in the donated kidney. As a definitive diagnosis of Fabry's disease could not be confirmed, enzyme replacement therapy was not initiated. Thirteen years after kidney transplantation, the patient underwent left nephrectomy for a left renal tumour, with pathological findings of clear cell carcinoma, foam cells and zebra bodies in the native kidney. Detailed examinations identified low α-galactosidase A activity and mutation of the α-Gal A gene, confirming a diagnosis of a renal variant phenotype of Fabry disease. Histology of several allograft biopsies performed over the 14 years from the time of kidney transplantation revealed only moderate interstitial fibrosis and tubular atrophy, with no evidence of disease progression on electron microscopy, despite the presence of zebra bodies in the glomerular visceral epithelial cells. PMID:26971403

  8. Demonstrations Using a Fabry-Perot. I. Multiple-Slit Interference

    ERIC Educational Resources Information Center

    Roychoudhuri, Chandrasekhar

    1975-01-01

    Describes a demonstration technique for showing multiple-slit interference patterns with the use of a Fabry-Perot etalon and a laser beam. A simple derivation of the analytical expression for such fringes is presented. (Author/CP)

  9. Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

    PubMed Central

    Kilarski, Laura L.; Rutten-Jacobs, Loes C. A.; Bevan, Steve; Baker, Rob; Hassan, Ahamad; Hughes, Derralynn A.; Markus, Hugh S.

    2015-01-01

    Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene, is the most common monogenic disorder causing lacunar stroke and cerebral small vessel disease (SVD). Fabry disease (FD) due to mutations in the GLA gene has been suggested as an underdiagnosed cause of stroke, and one feature is SVD. Previous studies reported varying prevalence of CADASIL and FD in stroke, likely due to varying subtypes studied; no studies have looked at a large cohort of younger onset SVD. We determined the prevalence in a well-defined, MRI-verified cohort of apparently sporadic patients with lacunar infarct. Methods Caucasian patients with lacunar infarction, aged ≤70 years (mean age 56.7 (SD8.6)), were recruited from 72 specialist stroke centres throughout the UK as part of the Young Lacunar Stroke DNA Resource. Patients with a previously confirmed monogenic cause of stroke were excluded. All MRI’s and clinical histories were reviewed centrally. Screening was performed for NOTCH3 and GLA mutations. Results Of 994 subjects five had pathogenic NOTCH3 mutations (R169C, R207C, R587C, C1222G and C323S) all resulting in loss or gain of a cysteine in the NOTCH3 protein. All five patients had confluent leukoaraiosis (Fazekas grade ≥2). CADASIL prevalence overall was 0.5% (95% CI 0.2%-1.1%) and among cases with confluent leukoaraiosis 1.5% (95% CI 0.6%-3.3%). No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD. Conclusion CADASIL cases are rare and only detected in SVD patients with confluent leukoaraiosis. No definite FD cases were detected. PMID:26305465

  10. Late onset variants in Fabry disease: Results in high risk population screenings in Argentina

    PubMed Central

    Serebrinsky, G.; Calvo, M.; Fernandez, S.; Saito, S.; Ohno, K.; Wallace, E.; Warnock, D.; Sakuraba, H.; Politei, J.

    2015-01-01

    Background Screening for Fabry disease (FD) in high risk populations yields a significant number of individuals with novel, ultra rare genetic variants in the GLA gene, largely without classic manifestations of FD. These variants often have significant residual α-galactosidase A activity. The establishment of the pathogenic character of previously unknown or rare variants is challenging but necessary to guide therapeutic decisions. Objectives To present 2 cases of non-classical presentations of FD with renal involvement as well as to discuss the importance of high risk population screenings for FD. Results Our patients with non-classical variants were diagnosed through FD screenings in dialysis units. However, organ damage was not limited to kidneys, since LVH, vertebrobasilar dolichoectasia and cornea verticillata were also present. Lyso-Gb3 concentrations in plasma were in the pathologic range, compatible with late onset FD. Structural studies and in silico analysis of p.(Cys174Gly) and p.(Arg363His), employing different tools, suggest that enzyme destabilization and possibly aggregation could play a role in organ damage. Conclusions Screening programs for FD in high risk populations are important as FD is a treatable multisystemic disease which is frequently overlooked in patients who present without classical manifestations. PMID:26937405

  11. [Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease].

    PubMed

    Roy, S; Touboul, D; Brunelle, A; Germain, D-P; Prognon, P; Laprévote, O; Chaminade, P

    2006-09-01

    The advent of innovative techniques in mass spectrometry, especially in the area of imaging, prompted us to evaluate two promising techniques: secondary ion mass spectrometry (SIMS) and matrix-assisted laser desorption/ionization (MALDI) mass spectrometry. For this purpose, sections of cutaneous biopsies from patients affected by Fabry's disease and control patients were analyzed. In the course of this disease, two physiological glycosphingolipids [globotriasylceramide (Gb3) and the galabiosylceramide (Ga2)] accumulate in certain tissues owing to a catabolism failure. The ability of these techniques to localize sites of accumulation in body tissues and their capacity to identify the accumulated lipid structures by mass spectra were evaluated. Results demonstrated that these two techniques provide complementary information:-secondary ion mass spectrometry enabled precise localization of areas of accumulation with lateral resolution in the micrometer range;-the signal obtained with matrix-assisted laser desorption/ionization mass spectrometry was high enough to identify these structures according to their molecular weight. PMID:17095952

  12. Compact imaging spectrometer combining Fourier transform spectroscopy with a Fabry-Perot interferometer.

    PubMed

    Pisani, Marco; Zucco, Massimo

    2009-05-11

    An imaging spectrometer based on a Fabry-Perot interferometer is presented. The Fabry-Perot interferometer scans the mirror distance up to contact and the intensity modulated light signal is transformed using a Fourier Transform based algorithm, as the Michelson based Fourier Transform Spectrometers does. The resulting instrument has the advantage of a compact, high numerical aperture, high luminosity hyperspectral imaging device. Theory of operation is described along with one experimental realization and preliminary results. PMID:19434165

  13. High-precision velocimetry: optimization of a fabry-perot interferometer.

    PubMed

    Courteville, A; Salvadé, Y; Dändliker, R

    2000-04-01

    We present the optimization of a Fabry-Perot velocimeter designed to measure speed at a few millimeters per second with a relative uncertainty of 10(-8). We focus on the accuracy and the optimization of the Fabry-Perot, with a review of the uncertainties related to the geometry, the beam shape, and the Doppler frequency measurement. These errors are quantified to ensure that the required accuracy is reached. We then describe the practical implementation and show the results. PMID:18345045

  14. Method and apparatus for a Fabry-Perot multiple beam fringe sensor

    NASA Technical Reports Server (NTRS)

    James, Kenneth A. (Inventor); Quick, William H. (Inventor); Strahan, Virgil H. (Inventor)

    1986-01-01

    A method and, in one embodiment of the invention, the resulting apparatus for implementing a unique multiple beam fringe sensor that is adapted to be interfaced with a low cost, compact fiber optic transmission system in order to provide an accurate digital representation of a physical parameter (e.g. temperature) of a remote sample. The sensor is fabricated so as to include a Fabry-Perot gap formed between the ends of two mated optical fibers. By examining the optical characteristics of light that is transmitted through the Fabry-Perot sensor gap, an indication of gap width can be ascertained. Accordingly, a change in Fabry-Perot sensor gap width is related to a change in the particular physical parameter to be measured. In another embodiment of the invention, a second unique multiple beam fringe sensor having a Fabry-Perot gap is disclosed that is also adapted to provide an accurate digital representation of a physical parameter (e.g. temperature) of a remote sample. The sensor may be fabricated in two segments. A fiber containing segment includes each of a driving optical fiber for supplying incident light signals to the Fabry-Perot gap and a sensing optical fiber for receiving output light signals that have been transmitted twice through the Fabry-Perot gap, the optical characteristics of which output signals provide an indication of the parameter to be sensed. A transducer segment includes the Fabry-Perot gap formed therein and means responsive to the physical parameter for changing the width of the Fabry-Perot gap and, accordingly, the optical characteristics of the light signals passing therethrough.

  15. Experimental and Numerical Characterization of a Hybrid Fabry-Pérot Cavity for Temperature Sensing

    PubMed Central

    Lopez-Aldaba, Aitor; Pinto, Ana Margarida Rodrigues; Lopez-Amo, Manuel; Frazão, Orlando; Santos, José Luís; Baptista, José Manuel; Baierl, Hardy; Auguste, Jean-Louis; Jamier, Raphael; Roy, Philippe

    2015-01-01

    A hybrid Fabry-Pérot cavity sensing head based on a four-bridge microstructured fiber is characterized for temperature sensing. The characterization of this cavity is performed numerically and experimentally in the L-band. The sensing head output signal presents a linear variation with temperature changes, showing a sensitivity of 12.5 pm/°C. Moreover, this Fabry-Pérot cavity exhibits good sensitivity to polarization changes and high stability over time. PMID:25853404

  16. Tunable Fabry-Perot filter and grating hybrid modulator to improve dispersive spectrometer resolution

    NASA Astrophysics Data System (ADS)

    Fang, Liang; Li, Guojun; Yang, Huan; Zhou, Chongxi

    2016-05-01

    We describe a tunable Fabry-Perot filter and grating hybrid modulator to achieve a higher spectral resolution compared with that produced by a single grating with the same period. In the hybrid modulator, a tunable Fabry-Perot filter is designed with a long cavity to accommodate a multi-order narrowband pre-filter. A grating is then utilized to separate these multi-orders spatially. Scanning the air gap of the tunable Fabry-Perot filter within 1/2 wavelength, the entire spectrogram can be achieved by compositing each group of transmitted multi-orders. Light passes first through the Fabry-Perot cavity and then into the grating. Thus, all of the light is incident on the Fabry-Perot cavity at a given angle, which can reduce the requirement for incident beam alignment and simplify the operation of the hybrid modulator. The structural matching conditions of the tunable Fabry-Perot filter and grating were presented based on the operating law of the hybrid modulator. In terms of the Rayleigh criterion, the practical spectral resolution of the hybrid modulator can be increased by at least twice that of the single grating. Experiments with a neon lamp revealed that the spectral resolution of the hybrid modulator was nearly double that of a single grating.

  17. Predicted Risk of Radiation-Induced Cancers After Involved Field and Involved Node Radiotherapy With or Without Intensity Modulation for Early-Stage Hodgkin Lymphoma in Female Patients

    SciTech Connect

    Weber, Damien C.; Johanson, Safora; Peguret, Nicolas; Cozzi, Luca; Olsen, Dag R.

    2011-10-01

    Purpose: To assess the excess relative risk (ERR) of radiation-induced cancers (RIC) in female patients with Hodgkin lymphoma (HL) female patients treated with conformal (3DCRT), intensity modulated (IMRT), or volumetric modulated arc (RA) radiation therapy. Methods and Materials: Plans for 10 early-stage HL female patients were computed for 3DCRT, IMRT, and RA with involved field RT (IFRT) and involvednode RT (INRT) radiation fields. Organs at risk dose--volume histograms were computed and inter-compared for IFRT vs. INRT and 3DCRT vs. IMRT/RA, respectively. The ERR for cancer induction in breasts, lungs, and thyroid was estimated using both linear and nonlinear models. Results: The mean estimated ERR for breast, lung, and thyroid were significantly lower (p < 0.01) with INRT than with IFRT planning, regardless of the radiation delivery technique used, assuming a linear dose-risk relationship. We found that using the nonlinear model, the mean ERR values were significantly (p < 0.01) increased with IMRT or RA compared to those with 3DCRT planning for the breast, lung, and thyroid, using an IFRT paradigm. After INRT planning, IMRT or RA increased the risk of RIC for lung and thyroid only. Conclusions: In this comparative planning study, using a nonlinear dose--risk model, IMRT or RA increased the estimated risk of RIC for breast, lung, and thyroid for HL female patients. This study also suggests that INRT planning, compared to IFRT planning, may reduce the ERR of RIC when risk is predicted using a linear model. Observing the opposite effect, with a nonlinear model, however, questions the validity of these biologically parameterized models.

  18. Pelvic ultrasound immediately following MDCT in female patients with abdominal/pelvic pain: is it always necessary?

    PubMed

    Yitta, Silaja; Mausner, Elizabeth V; Kim, Alice; Kim, Danny; Babb, James S; Hecht, Elizabeth M; Bennett, Genevieve L

    2011-10-01

    To determine the added value of reimaging the female pelvis with ultrasound (US) immediately following multidetector CT (MDCT) in the emergent setting. CT and US exams of 70 patients who underwent MDCT for evaluation of abdominal/pelvic pain followed by pelvic ultrasound within 48 h were retrospectively reviewed by three readers. Initially, only the CT images were reviewed followed by evaluation of CT images in conjunction with US images. Diagnostic confidence was recorded for each reading and an exact Wilcoxon signed rank test was performed to compare the two. Changes in diagnosis based on combined CT and US readings versus CT readings alone were identified. Confidence intervals (95%) were derived for the percentage of times US reimaging can be expected to lead to a change in diagnosis relative to the diagnosis based on CT interpretation alone. Ultrasound changed the diagnosis for the ovaries/adnexa 8.1% of the time (three reader average); the majority being cases of a suspected CT abnormality found to be normal on US. Ultrasound changed the diagnosis for the uterus 11.9% of the time (three reader average); the majority related to the endometrial canal. The 95% confidence intervals for the ovaries/adnexa and uterus were 5-12.5% and 8-17%, respectively. Ten cases of a normal CT were followed by a normal US with 100% agreement across all three readers. Experienced readers correctly diagnosed ruptured ovarian cysts and tubo-ovarian abscesses (TOA) based on CT alone with 100% agreement. US reimaging after MDCT of the abdomen and pelvis is not helpful: (1) following a normal CT of the pelvic organs or (2) when CT findings are diagnostic and/or characteristic of certain entities such as ruptured cysts and TOA. Reimaging with ultrasound is warranted for (1) less-experienced readers to improve diagnostic confidence or when CT findings are not definitive, (2) further evaluation of suspected endometrial abnormalities. A distinction should be made between the need for

  19. Swift: A Widefield Imaging Fabry Perot for Sofia

    NASA Technical Reports Server (NTRS)

    Stacey, Gordon J.

    1999-01-01

    Contract was to pursue feasibility studies of the SOFIA Widefield Imaging Fabry-Perot (SWIFT). SWIFT was proposed as a two color 18 to 40 microns imaging Fabry-Perot that utilized two Rockwell/Boeing 256 x 256 pixel Si:Sb BIBs as detective devices. The colors were to be split between 26 and 30 microns using a MgO dichroic. The resolution achieving devices were to be a pair of cryogenic fully tunable scanning Fabry-Perot interferometers (FPIs), two in each band. For high resolving powers, a third, fixed FPI is inserted into the beam. The FPI mirrors were to be made of free standing metal mesh. We also proposed to look into a long wavelength (40 to 210 microns) band during the feasibility study period. We produced a proposal to USRA, submitted in July 1997 that substantially refined our ideas. We decided the long wavelength science was compelling, so the baseline wavelength coverage for SWIFT was widened to 17 to 205 microns. Under typical operations, we proposed to simultaneously image in two bands: 22 to 38 microns, and 50 to 205 microns. The bands were to be split by a cold CaF2 dichroic. The short wavelength (SW) band was to employ a 256 x 256 pixel Boeing/Rockwell Si:Sb BIB array, and the long wavelength (LW) band was to employ a Goddard 6 x 32 (upgradable to 32 x 32) element array of monolithic silicon "pop-up" bolometers as detective devices. The two color capability doubled the data taking efficiency, and ensured "perfect" registration between the images obtained in each band. For the SW band, the beam was to be fully sampled (0.7" pixels, 1.4 in. beam) at 17 microns, and over sampled at longer wavelengths. Even so, SWIFT has a very large (3 ft x 3 ft) field of view. To match the SW and LW fields of view (initially in one dimension only, but in 2-dimensions with 32 x 32 upgrade), SWIFT was to under sample at 63 microns (5.6 in pixels, 5.2 in beam) resulting in a 0.56 x 3 in (upgrade to 3 in x 3 in) field of view. Each band has both Lo-Res (R triple bond

  20. Influence of intensity loss in the cavity of a folded Fabry-Perot interferometer on interferometric signals

    SciTech Connect

    Shyu, Lih-Horng; Chang, Chung-Ping; Wang, Yung-Cheng

    2011-06-15

    Fabry-Perot interferometer is often used for the micro-displacement, because of its common optical path structure being insensitive to the environmental disturbances. Recently, the folded Fabry-Perot interferometer has been investigated for displacement measurements in large ranges. The advantages of a folded Fabry-Perot interferometer are insensitive to the tilt angle and higher optical resolution. But the design of the optical cavity has become more and more complicated. For this reason, the intensity loss in the cavity will be an important parameter for the distribution of the interferometric intensity. To obtain a more accurate result of such interferometer utilized for displacement measurements, the intensity loss of the cavity in the fabricated folded Fabry-Perot interferometer and the modified equation of the folded Fabry-Perot interferometer will be described. According to the theoretical and experimental results, the presented model is available for the analysis of displacement measurements by a folded Fabry-Perot interferometer.

  1. Association of pain intensity, pain-related disability, and depression with hypothalamus-pituitary-adrenal axis function in female patients with chronic temporomandibular disorders.

    PubMed

    Jo, Kyung B; Lee, Young J; Lee, Il G; Lee, Sang C; Park, Jai Y; Ahn, Ryun S

    2016-07-01

    Patients with temporomandibular disorders (TMD) commonly experience myofascial and joint pain, pain-related disability, and other pain conditions including depression. The present study was carried out to explore the function of the hypothalamus-pituitary-adrenal (HPA) axis in relation to variables of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis II and comorbid depression in female patients with TMD. Cortisol and dehydroepiandrosterone (DHEA) levels were determined in saliva samples that had been collected at various periods after waking (0, 30, and 60min) and at nighttime (2100-2200h) from 52 female patients with chronic TMD pain and age- and gender-matched controls (n=54, 20-40 years old). There were no significant differences in the levels and diurnal patterns of cortisol and DHEA secretion between groups of patients with TMD and controls. In patients, the cortisol awakening response (CAR) or diurnal cortisol rhythm were not associated with any variables of the RDC/TMD Axis II or the Beck Depression Inventory (BDI)-II total scores. However, the ratio of overall cortisol secretion within the first hour after waking (CARauc) to overall DHEA secretion during the post-waking period (Daucawk), defined as CARauc/Daucawk, was significantly associated with pain-related RDC/TMD variables (pain intensity and pain-related disability) and BDI-II total scores. Pain intensity and pain-related disability scores were also significantly associated with BDI-II total scores. These results indicated that an increase in molar cortisol/DHEA ratio due to the dissociation between cortisol and DHEA secretion was associated with pain intensity, pain-related disability, and depression in female patients with TMD. PMID:27082645

  2. Quality of life in women with female pattern hair loss and the impact of topical minoxidil treatment on quality of life in these patients.

    PubMed

    Zhuang, Xiao-Sheng; Zheng, You-You; Xu, Jia-Jia; Fan, Wei-Xin

    2013-08-01

    Female pattern hair loss (FPHL) is the most common hair loss disorder in women and it may impact on the psychological and social activities of patients, thereby reducing their quality of life (QoL). Topical minoxidil has been shown to be effective and safe in the treatment of patients with FPHL. The aim of this study was to assess the QoL of patients with FPHL and investigate whether topical minoxidil solution treatment improves the QoL of these patients. In this study, we enrolled 125 female patients aged 16-72 years to answer visual analog scale (VAS) and dermatology life quality index (DLQI) questionnaires. Of these patients, 31 were recruited for the follow-up study after 12 months of treatment with 2% minoxidil. Each index and the change in QoL prior to and following treatment were statistically analyzed. There was identified to be a correlation between clinical severity and the values of the indices in all patients. There was a statistically significant difference between the VAS and DLQI scores prior to and following treatment with 2% minoxidil. A comparison between the good responders (n=23) and the poor responders (n=8) revealed no significant difference in the improvement of VAS and DLQI scores. The QoL of the patients was severely impaired by FPHL. The DLQI and VAS used in this study were validated as useful indices for the evaluation of QoL due to their high reliability, sensitivity and simplicity. This evaluation is recommended for the management of FPHL treatment. The results of the study demonstrated that topical minoxidil improved the QoL of the patients. PMID:24137223

  3. EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients.

    PubMed

    Yang, Shi-Yi; Yang, Tsung-Ying; Li, Yao-Jen; Chen, Kun-Chieh; Liao, Kuo-Meng; Hsu, Kuo-Hsuan; Tsai, Chi-Ren; Chen, Chih-Yi; Hsu, Chung-Ping; Hsia, Jiun-Yi; Chuang, Cheng-Yen; Tsai, Ying-Huang; Chen, Kuan-Yu; Huang, Ming-Shyan; Su, Wu-Chou; Chen, Yuh-Min; Hsiung, Chao A; Shen, Chen-Yang; Chang, Gee-Chen; Yang, Pan-Chyr; Chen, Chien-Jen

    2013-01-15

    We explored potential associations between genetic polymorphisms in genes related to DNA repair and detoxification metabolism and epidermal growth factor receptor (EGFR) mutations in a cohort of 410 never-smoking patients with lung adenocarcinoma. Multivariate-adjusted odds ratios (aORs) and corresponding 95% confidence intervals (CI) of EGFR mutation status in association with the genotypes of DNA repair and detoxification metabolism genes were evaluated using logistic regression analysis. We found an association between in-frame deletion in EGFR exon 19 and a single nucleotide polymorphism (SNP) rs1800566C/T located in NQO1 (aOR, 2.2 with 95% CI, 1.0-4.8) in female never-smokers. The SNP rs744154C/G in ERCC4 was also associated with the EGFR exon 19 in-frame deletion both in never-smokers (aOR, 1.7 with 95% CI, 1.0-3.0) and female never-smokers (aOR, 1.9 with 95% CI, 1.0-3.6). Although the association was marginally significant in multivariate logistic regression analysis, the A/A genotype of rs1047840 in EXO1 was associated with a 7.6-fold increase in the occurrence of the EGFR exon 19 in-frame deletion in female never-smokers. Moreover, risk alleles in NQO1, ERCC4 and EXO1 were associated with an increasing aOR of the EGFR exon 19 in-frame deletion both in never-smokers (p = 0.007 for trend) and female never-smokers (p = 0.002 for trend). Our findings suggest that the in-frame deletion in EGFR exon 19 is associated with polymorphisms in DNA repair and detoxification metabolism genes in never-smoking lung adenocarcinoma patients, especially in females. PMID:22573488

  4. Design of broadband dielectric coatings for near-infrared Fabry-Perot interferometer

    NASA Astrophysics Data System (ADS)

    Wang, Jinfeng; Mao, Weijun; Cui, Xiangqun

    2007-12-01

    Fabry-Perot interferometer has an important effect on near-infrared high spectral resolution spectrograph. In 1896, Ch. Fabry and Alfred Perot designed and used the Fabry-Perot interferometer for the first time. Since then the instruments using Fabry-Perot interference phenomena have been applied broadly to multi-field, such as astronomy, laser, and fiber-optic transmission. Fabry-Perot interferometer has many advantages such as narrow passband, high spectral resolution, high throughput, easy wave-length adjustment, simple structure and large aperture. Comparing with traditional visible light, the solar observation in near-infrared has many advantages: for example, weaker magnetic field strength can be more precisely measured with near-infrared spectrum .So developing the key technology of near-infrared high spectral resolution spectrograph--Fabry-Perot interferometer has become urgent. For developing near-infrared Fabry-Perot interferometer, there are four difficulties: producing high quality optical plane: peak-to-valley surface flatness better than λ/100 coating Fabry-Perot interferometer plates with broadband multilayer dielectric films(including spectrum performance, thickness uniformity and stress effects); controlling the distance of interference cavity; keeping constant temperature. In this paper, the process of designing broadband dielectric reflective and antireflective coatings applied in near-infrared Fabry-Perot is described and some problems of designing Fabry-Perot interferometer are discussed: the design of broadband dielectric mirror is described with reflectivity of 93.9+/-1.0% over spectral ranges from 1.0μm to 1.7μm by reflective phase shifts in the design of mirror coating, computing the required film thickness uniformity atλ/100 of peak-to-valley surface flatness; degradation of surface figure is perhaps more thanλ/100 even if the soft coating materials-zinc sulfide and cryolite are used, and in order to reduce the degradation of surface

  5. Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease

    PubMed Central

    Giese, Anne Kathrin; Eichler, Sabrina; Sieweke, Nicole; Speth, Maria; Bauer, Timm; Hamm, Christian

    2016-01-01

    Objectives Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac troponin I (cTnI) in discriminating FD patients with cardiac involvement in a large FD patient cohort. Methods cTnI levels were measured with a contemporary sensitive assay in plasma samples taken routinely from FD patients. The assay was calibrated to measure cTnI levels ≥0.01 ng/ml. Elevated cTnI values (cut-off ≥0.04 ng/ml) were correlated with clinical data. Results cTnI was assessed in 62 FD patients (median age: 47 years, males: 36%). Elevated cTnI levels were detected in 23 (37%) patients. Patients with a cTnI elevation were older (median 55 years versus 36 years, p<0.001). Elevated cTnI levels were associated with the presence of a LVH (16/23 versus 1/39; OR 65.81, CI: 6.747–641.859; p<0.001). In almost all patients with a left ventricular hypertrophy (LVH) elevated cTnI levels were detected (16/17, 94%). Absolute cTnI levels in patients with LVH were higher than in those without (median 0.23 ng/ml versus 0.02 ng/ml; p<0.001). A cTnI level <0.04ng/ml had a high negative predictive value regarding the presence of a LVH (38/39, 97%). In a control group of non-FD patients (n = 17) with LVH (due to hypertension) none showed cTnI levels ≥0.01 ng/ml. Conclusions Elevated cTnI levels are common in FD patients, reflecting cardiac involvement. FD patients might benefit from a continuous cTnI monitoring. PMID:27322070

  6. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

    PubMed Central

    Parenti, Ilaria; Rovina, Davide; Masciadri, Maura; Cereda, Anna; Azzollini, Jacopo; Picinelli, Chiara; Limongelli, Giuseppe; Finelli, Palma; Selicorni, Angelo; Russo, Silvia; Gervasini, Cristina; Larizza, Lidia

    2014-01-01

    Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, limb anomalies, and growth and cognitive deficits. Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of clinically diagnosed CdLS cases. The SMC1A gene (Xp11.22), responsible for 5% of CdLS cases, partially escapes X chromosome inactivation in humans and the allele on the inactive X chromosome is variably expressed. In this study, we evaluated overall and allele-specific SMC1A expression. Real-time PCR analysis conducted on 17 controls showed that SMC1A expression in females is 50% higher than in males. Immunoblotting experiments confirmed a 44% higher protein level in healthy females than in males, and showed no significant differences in SMC1A protein levels between controls and patients. Pyrosequencing was used to assess the reciprocal level of allelic expression in six female carriers of different SMC1A mutations and 15 controls who were heterozygous at a polymorphic transcribed SMC1A locus. The two alleles were expressed at a 1:1 ratio in the control group and at a 2:1 ratio in favor of the wild type allele in the test group. Since a dominant negative effect is considered the pathogenic mechanism in SMC1A-defective female patients, the level of allelic preferential expression might be one of the factors contributing to the wide phenotypic variability observed in these patients. An extension of this study to a larger cohort containing mild to borderline cases could enhance our understanding of the clinical spectrum of SMC1A-linked CdLS. PMID:24756084

  7. Increasing proportion of female patients with ankylosing spondylitis: a population-based study of trends in the incidence and prevalence of AS

    PubMed Central

    Haroon, Nisha N; Paterson, J Michael; Li, Ping; Haroon, Nigil

    2014-01-01

    Objective With the introduction of MRI in diagnosis and tumour necrosis factor inhibitors for treatment, the field of ankylosing spondylitis (AS) has undergone significant changes. We carried out a population-based study of the trends in incidence and prevalence of AS over the past 15 years. Methods This is a retrospective analysis of provincial health administrative databases. Residents of Ontario, Canada aged 15 years or older diagnosed with AS between 1995 and 2010 were included in the study. Crude as well as age-standardised and sex-standardised incidence and prevalence of AS between 1995 and 2010 were calculated. Trends in prevalence and incidence of male and female patients with AS were separately analysed. Results We identified 24 976 Ontarians with AS. Age/sex-standardised AS prevalence increased from 79/100 000 in 1995 to 213/100 000 in 2010. Men had higher prevalence than women, but the male/female prevalence ratio decreased from 1.70 in 1995 to 1.21 by 2010. A higher proportion of male compared with female patients with AS were diagnosed in the 15–45 age group. Annual incidence rates revealed increasing diagnosis of AS among women after 2003. Conclusions The prevalence of AS in Ontario has nearly tripled over the past two decades. The proportion of women with new diagnosis of AS is increasing, a trend that began around the year 2003. A higher proportion of male compared with female patients with AS are diagnosed at an earlier age. PMID:25510888

  8. GIFS Imaging Fabry--Perot Spectrometer: Measurement Technique and Intercomparison

    NASA Astrophysics Data System (ADS)

    Demajistre, R.; Yee, J.; Swartz, W. H.; Kelly, M. A.; Pitts, M. C.; Hostetler, C. A.

    2008-05-01

    A Geostationary Imaging Fabry--Perot Spectrometer (GIFS) prototype instrument has been developed and tested during a recent NASA P3B aircraft field campaign based at NASA/Wallops (Jan--Feb 2008). GIFS is a very high- resolution imaging spectrometer that resolves individual molecular oxygen lines for the inference of cloud height and other properties. Cloud properties are inferred by accurate measurement of the line shape of the backscattered light incident on the instrument. In particular, the line shape contains a record of the pressure broadening that occurs along the multiply scattered path of the light reaching the instrument. We present our initial analysis of the data collected during this campaign. We have identified several representative cases of cloud scenes in the dataset to validate the measurement concept. These cases include cloud-free measurements made over open ocean and thick unbroken cloud decks in areas where coincident high-precision cloud measurements are available from the NASA/Langley LIDAR onboard the Langley B200 research aircraft and CALIPSO. The data for these cases are analyzed in the context of standard radiation field modeling and instrument optical performance taken both during the flight and on the ground.

  9. Performance of a dual Fabry-Perot cavity refractometer.

    PubMed

    Egan, Patrick F; Stone, Jack A; Hendricks, Jay H; Ricker, Jacob E; Scace, Gregory E; Strouse, Gregory F

    2015-09-01

    We have built and characterized a refractometer that utilizes two Fabry-Perot cavities formed on a dimensionally stable spacer. In the typical mode of operation, one cavity is held at vacuum, and the other cavity is filled with nitrogen gas. The differential change in length between the cavities is measured as the difference in frequency between two helium-neon lasers, one locked to the resonance of each cavity. This differential change in optical length is a measure of the gas refractivity. Using the known values for the molar refractivity and virial coefficients of nitrogen, and accounting for cavity length distortions, the device can be used as a high-resolution, multi-decade pressure sensor. We define a reference value for nitrogen refractivity as n-1=(26485.28±0.3)×10(-8) at p=100.0000  kPa, T=302.9190  K, and λ(vac)=632.9908  nm. We compare pressure determinations via the refractometer and the reference value to a mercury manometer. PMID:26368682

  10. The GREGOR Fabry-Perot interferometer: status report and prospects

    NASA Astrophysics Data System (ADS)

    Puschmann, Klaus G.; Balthasar, Horst; Beck, Christian; Louis, Rohan E.; Popow, Emil; Seelemann, Thomas; Volkmer, Reiner; Woche, Manfred; Denker, Carsten

    2012-09-01

    The GREGOR Fabry-Ṕerot Interferometer (GFPI) is one of three first-light instruments of the German 1.5-meter GREGOR solar telescope at the Observatorio del Teide, Tenerife, Spain. The GFPI allows fast narrow-band imaging and post-factum image restoration. The retrieved physical parameters will be a fundamental building block for understanding the dynamic Sun and its magnetic field at spatial scales down to 50 km on the solar surface. The GFPI is a tunable dual-etalon system in a collimated mounting. It is designed for spectropolarimetric observations over the wavelength range from 530-860 nm with a theoretical spectral resolution of R ≍ 250,000. The GFPI is equipped with a full-Stokes polarimeter. Large-format, high-cadence CCD detectors with powerful computer hard- and software enable the scanning of spectral lines in time spans equivalent to the evolution time of solar features. The field-of-view of 50''×38'' covers a significant fraction of the typical area of active regions. We present the main characteristics of the GFPI including advanced and automated calibration and observing procedures. We discuss improvements in the optical design of the instrument and show first observational results. Finally, we lay out first concrete ideas for the integration of a second FPI, the Blue Imaging Solar Spectrometer, which will explore the blue spectral region below 530 nm.

  11. Fabry-Perot Interferometer for Column CO2

    NASA Technical Reports Server (NTRS)

    Heaps, William S.; Kawa, Randolph; Bhartia, P. K. (Technical Monitor)

    2002-01-01

    Global atmospheric CO2 measurements are essential to resolving significant discrepancies in our understanding of the global carbon budget and, hence, humankind's role in global climate change. The science measurement requirements for CO2 are extremely demanding (precision approx. 0.3%). No atmospheric chemical species has ever been measured from space with this precision. We are developing a novel application of a Fabry-Perot interferometer to detect spectral absorption of reflected sunlight by CO2 and O2 in the atmosphere. Preliminary design studies indicate that the method will be able to achieve the sensitivity and signal-to-noise detection required to measure column CO2 at the target specification. The objective of this program is to construct a prototype instrument for deployment on an aircraft to test the instrument performance and our ability to retrieve the data in the real atmosphere. To date we have assembled a laboratory bench system to begin testing the optical and electronic components. We are also measuring signal and noise levels in actual sunlight to evaluate component performance.

  12. Fabry-Perot microcavity for diamond-based photonics

    NASA Astrophysics Data System (ADS)

    Janitz, Erika; Ruf, Maximilian; Dimock, Mark; Bourassa, Alexandre; Sankey, Jack; Childress, Lilian

    2015-10-01

    Open Fabry-Perot microcavities represent a promising route for achieving a quantum electrodynamics (cavity-QED) platform with diamond-based emitters. In particular, they offer the opportunity to introduce high-purity, minimally fabricated material into a tunable, high quality factor optical resonator. Here, we demonstrate a fiber-based microcavity incorporating a thick (>10 μ m ) diamond membrane with a finesse of 17 000, corresponding to a quality factor Q ˜106 . Such minimally fabricated thick samples can contain optically stable emitters similar to those found in bulk diamond. We observe modified microcavity spectra in the presence of the membrane, and we develop analytic and numerical models to describe the effect of the membrane on cavity modes, including loss and coupling to higher-order transverse modes. We estimate that a Purcell enhancement of approximately 20 should be possible for emitters within the diamond in this device, and we provide evidence that better diamond surface treatments and mirror coatings could increase this value to 200 in a realistic system.

  13. Fabry-Perot Interferometer for Column CO2: Airborne

    NASA Technical Reports Server (NTRS)

    Kawa, S. R.; Heaps, W. S.; Mao, J.; Andrews, A. E.; Burris, J. F.; Miodek, M.; Georgieva, E.

    2002-01-01

    Global atmospheric CO2 measurements are essential to resolving significant discrepancies in our understanding of the global carbon budget and, hence, humankind's role in global climate change. The science measurement requirements for CO2 are, however, extremely demanding (precision approximately 0.3%). We are developing a novel application of a Fabry-Perot interferometer to detect spectral absorption of reflected sunlight by CO2 and O2 in the atmosphere that should be able to achieve sufficient sensitivity and signal-to-noise to measure column CO2 at the target specification. We are currently constructing a prototype instrument for deployment on aircraft. The aircraft version will measure total column CO2 and CO2 below the aircraft as well as O2, which allows normalization of CO2 column amounts for varying surface height and pressure. This instrument will be a valuable asset in carbon budget field studies as well as a useful tool for evaluating existing and future space-based CO2 measurements. We will present the instrument concept, sensitivity calculations, and the results of testing a bench system in the laboratory and outdoors on the ground. We will also discuss our plan for deployment on the aircraft and potential flight applications to the CO2 budget problem.

  14. Optical fiber Fabry-Perot interferometer for microorganism growth detection

    NASA Astrophysics Data System (ADS)

    Liu, Xiaohui; Jiang, Mingshun; Sui, Qingmei; Luo, Shuyang; Geng, Xiangyi

    2016-07-01

    An optical fiber Fabry-Perot interferometer (FPI) based on hollow-core photonic crystal fiber (HCPCF) for microorganism growth detection is proposed and demonstrated. The FPI is formed by splicing both ends of a short section of HCPCF to SMFs and cleaving the SMF pigtail to a proper length. By measuring the fringe contrast of interference pattern, the refractive index (RI) changes of analyte during microorganism growth can be obtained. RI response of the sensor was investigated theoretically and experimentally. It shows linear response with sensitivity of -136 dB/RIU and good repeatability. Temperature response was also tested and the result confirms the low temperature cross-sensitivity of the sensor. Detection of yeast growth in liquid medium by the FPI sensor was conducted and the result shows the characteristic of typical yeast growth curve. With its advantages of high RI sensitivity, low temperature cross-sensitivity, capability for real-time measurement and so on, this FPI sensor has great potential in biosensing.

  15. Fabry-Perot Interferometer for Column CO2

    NASA Technical Reports Server (NTRS)

    Heaps, William S.; Kawa, S. Randolph; Krebs, Carolyn A. (Technical Monitor)

    2002-01-01

    Global atmospheric CO2 measurements are essential to resolving significant discrepancies in our understanding of the global carbon budget and, hence, humankind's role in global climate change. The science measurement requirements for CO2 are extremely demanding (precision is less than .3%). No atmospheric chemical species has ever been measured from space with this precision. We are developing a novel application of a Fabry-Perot interferometer to detect spectral absorption of reflected sunlight by CO2 and O2 in the atmosphere. Preliminary design studies indicate that the method will be able to achieve the sensitivity and signal-to-noise detection required to measure column CO2 at the target specification. The objective of this program is to construct a prototype instrument for deployment on an aircraft to test the instrument performance and our ability to retrieve the data in the real atmosphere. To date we have assembled a laboratory bench system to begin testing the optical and electronic components. We are also undertaking some measurements of signal and noise levels for actual sunlight reflecting from the ground in order to evaluate the potential of some components to meet the exacting requirements of this measurement.

  16. Radiation for Hodgkin's Lymphoma in Young Female Patients: A New Technique to Avoid the Breasts and Decrease the Dose to the Heart

    SciTech Connect

    Dabaja, Bouthaina S.; Rebueno, Neal C.S.; Mazloom, Ali; Thorne, Scott; Perrin, Kelly J.; Tolani, Naresh; Das, Pragnan; Delclos, Marc E.; Iyengar, Puneeth; Reed, Valerie K.; Horace, Patrecia; Salehpour, Mohammad R.

    2011-02-01

    Purpose: To demonstrate how, in young female patients with Hodgkin's lymphoma, using an inclined board technique can further decrease the volume of breasts and heart in the treatment field. Methods and Materials: An inclined board was constructed with the ability to mount an Aquaplast face mask, a Vacu-Lock, and a hip stopper. Eight female patients with early-stage Hodgkin's lymphoma were planned and compared using the conventional flat position and the inclined board position. All patients on the inclined board were planned with 90{sup o} degree table position and 15{sup o} gantry angle rotation to compensate for the beam divergence resulting from the patient's position on the inclined board. Dose-volume histograms were generated, as well as the mean V30 and V5 of both breasts and heart using both treatment positions. Results: The mean value of V30 of the right breast, left breast, and heart decreased from 3%, 3%, and 13%, respectively, using the flat position to 0, 0.4%, and 5%, respectively, using the inclined board. The mean value of V5 of the right breast, left breast, and heart decreased from 6%, 13%, and 36%, respectively, using the flat position to 2%, 8%, and 29%, respectively, using the inclined board. Conclusions: Compared with conventional flat positioning, this simple device and technique allows better sparing of the breasts and the heart while maintaining comparable target coverage and total lung dose.

  17. Female circumcision.

    PubMed

    Abu Daia, J M

    2000-10-01

    It is uncertain when female circumcision was first practiced, but it certainly preceded the founding of both Christianity and Islam. A review of past and current historical, popular and professional literature was undertaken, and 4 types of female circumcision were identified. Typically female circumcision is performed by a local village practitioner, lay person or by untrained midwives. Female genital mutilation is not accepted by any religious or medical opinion, and is a violation of human rights against helpless individuals who are unable to provide informed consent and who must therefore be protected through education and legislation. Complications of female circumcision can present after many years. Any medical practitioner (either for adult or pediatric) can be confronted with this issue of female circumcision, even in countries where this custom is not present, thus mandating the understanding of this complex issue. PMID:11369952

  18. An implantable Fabry-Pérot pressure sensor fabricated on left ventricular assist device for heart failure.

    PubMed

    Zhou, Ming-Da; Yang, Chuan; Liu, Zhiwen; Cysyk, Joshua P; Zheng, Si-Yang

    2012-02-01

    Continuous flow left ventricular assist devices (LVADs) are commonly used as bridge-to-transplantation or destination therapy for heart failure patients. However, non-optimal pumping speeds can reduce the efficacy of circulatory support or cause dangerous ventricular arrhythmias. Optimal flow control for continuous flow LVADs has not been defined and calls for an implantable pressure sensor integrated with the LVAD for real-time feedback control of pump speed based on ventricular pressure. A MEMS pressure sensor prototype is designed, fabricated and seamlessly integrated with LVAD to enable real-time control, optimize its performance and reduce its risks. The pressure sensing mechanism is based on Fabry-Pérot interferometer principle. A biocompatible parylene diaphragm with a silicon mirror at the center is fabricated directly on the inlet shell of the LVAD to sense pressure changes. The sensitivity, range and response time of the pressure sensor are measured and validated to meet the requirements of LVAD pressure sensing. PMID:21997499

  19. Sex discrepancies in COPD patients and burden of the disease in females: a nationwide study in Greece (Greek Obstructive Lung Disease Epidemiology and health ecoNomics: GOLDEN study)

    PubMed Central

    Papaioannou, Andriana I; Bania, Eleni; Alexopoulos, Evangelos C; Mitsiki, Eirini; Malli, Foteini; Gourgoulianis, Konstantinos I

    2014-01-01

    Background The prevalence of chronic obstructive pulmonary disease (COPD) in females appears to be increasing. Recent studies have revealed that the percentage of women with COPD in Greece is approximately 12.5%. Aims To evaluate the burden of COPD among males and females in Greece through a nationwide cross-sectional survey and to explore sex differences regarding functional characteristics and exacerbation frequency. Methods Data collection was completed in a 6-month period. The present study followed a nationwide sampling approach of respiratory medicine physicians. The sampling approach included three steps: 1) estimation of expected incidence and prevalence of COPD cases in each prefecture of Greece and in total; 2) estimation of expected incidence of COPD cases per physician in each prefecture; and 3) creation of a frame of three different sampling zones. Following this sampling, data were provided by 199 respiratory physicians. Results The participating physicians provided data from 6,125 COPD patients. Female patients represented 28.7% of the study participants. Female COPD patients were, on average, 5 years younger than male COPD patients. Never smokers accounted for 9.4% within female patients, compared to 2.7% of males (P<0.001). Female patients were characterized by milder forms of the disease. Comorbidities were more prevalent in men, with the exception of gastroesophageal reflux (14.6% versus 17.1% for men and women, respectively, P=0.013). Female COPD patients had a higher expected number of outpatient visits per year (by 8.9%) than males (P<0.001), although hospital admissions did not differ significantly between sexes (P=0.116). Females had fewer absences from work due to COPD per year, by 19.0% (P<0.001), compared to males. Conclusion The differences observed between male and female COPD patients provide valuable information which could aid the prevention and management of COPD in Greece. PMID:24600217

  20. Changes in Female Support Network Systems and Adaptation after Breast Cancer Diagnosis: Differences between Older and Younger Patients

    ERIC Educational Resources Information Center

    Ashida, Sato; Palmquist, Aunchalee E. L.; Basen-Engquist, Karen; Singletary, S. Eva; Koehly, Laura M.

    2009-01-01

    Purpose: This study evaluates the changes in social networks of older and younger breast cancer patients over a 6-month period following their first diagnosis and how such modifications are associated with changes in the patients' mood state. Design and Methods: Newly diagnosed breast cancer patients were interviewed shortly after their diagnosis…

  1. Resolution improvement of grating spectrometer by using a tunable Fabry-Perot filter

    NASA Astrophysics Data System (ADS)

    Fang, Liang; Shi, Zhendong; Qiu, Chuankai; Zhou, Chongxi

    2015-10-01

    Aiming at the problem of the resolution reduction in a miniaturized grating spectrometer, we presented a method to improve its spectral resolution by inserting a tunable Fabry-Perot filter into its optical path before the grating. The Fabry-Perot filter was designed to filter out a partial spectrogram and separate the original undistinguishable spectral lines so as to make their actual wavelengths can be detected. The different cavity length of the Fabry-Perot filter is corresponding to the different separated partial spectrogram. Combining all the separated partial spectrograms, an entire spectrogram with improved resolution can be achieved. Experimentally, the spectral resolution of a grating dispersive system was improved from 2 nm to 1.2nm in a broad spectral range by insetting a homemade tunable Fabry-Perot filter, which demonstrated the feasibility of this scheme. The tunable Fabry-Perot filter is fit for miniaturization by using MEMS technology and is able to work as an independent module. The method proposed provides a potential way to improve the spectral resolution without reducing the spectral range of the existing miniaturized grating spectrometers.

  2. Study on the structure of bridge surface of the micro Fabry-Perot cavity tunable filter

    NASA Astrophysics Data System (ADS)

    Meng, Qinghua; Luo, Huan; Bao, Shiwei; Zhou, Yifan; Chen, Sihai

    2011-02-01

    Micro Fabry-Perot cavity tunable filters are widely applied in the area of Pushbroom Hyperspectral imaging, DWDM optical communication system and self-adaptive optics. With small volume, lower consumption and cost, the Micro Fabry-Perot cavity tunable filter can realize superior response speed, large spectral range, high definition and high reliability. By deposition metal membrane on silicon chip by MEMS technology, the micro Fabry-Perot cavity has been achieved, which is actuated by electrostatic force and can realize the function of an optical filter. In this paper, the micro-bridge structure of the micro Fabry-Perot cavity tunable filter has been studied. Finite element analysis software COMSOL Multiphysics has been adopted to design the structure of the micro-bridge of the micro filter. In order to simulate the working mechanism of the micro Fabry-Perot cavity and study the electrical and mechanical characteristics of the micro tunable filter,the static and dynamic characteriastics are analyzed, such as stress, displacement, transient response, etc. The corresponding parameters of the structure are considered as well by optimizition the filter's sustain structure.

  3. Phase modulating two Fabry-Perot interferometry and its application to nanometrology

    NASA Astrophysics Data System (ADS)

    Gou, Bin; Zhu, Lei; Miao, Jian; Huang, Yu; Wei, Tao; Zhu, Ruogu

    2010-10-01

    We discuss how to expend the SPM of double beam interferometer to multi-beam interferometer or Fabry-Perot interferometer and deduce the corresponding theoretical results in this paper. Besides the introduction section 1 the principle of Fabry-Perot interferometer and how to simplify the representation of its intensity are described in section 2. Two typical conditions such as (1) nearby the maximum and fineness coefficient F, the light phase θ satisfied the condition F sin2θ < 1 or (2) offset the maximum and F θ satisfied the condition F sin2θ > 1 considered. Phase modulating Fabry-Perot interferometry and theoretical results for 1, ramp, 2, saw teeth, 3, sinusoidal voltage modulating or SPM Fabry-Perot interferometer are deduced in section 3. It should be noted that the construction of double Fabry-Perot interferometer for nanometrology and the experimental results are stated in section 4. Our measurement resolution could be arrived in <0.3nm using the method of time space difference.

  4. [Septic shock in 23 year old female patient after surgical correction of the nasal septum effectively treated in the intensive care unit].

    PubMed

    Greberski, Krzysztof; Kilanowska, Magdalena; Bugajski, Paweł; Rzymski, Stanisław; Jarząbek, Radosław; Kalawski, Ryszard

    2015-12-01

    A female patient 23 years old was admitted to the medical intensive care unit due to sudden loss of consciousness and seizures. At the time of admition observed lack of consciousness, seizures and severe critical condition was observed. Meningitis and septic shock were diagnosed. Based on computed tomography performed on the first day--inflammation of the sinuses soft tissues was diagnosed. Suspected cause of infection was performed 6 weeks earlier surgical correction of the nasal septum. In the next stage of treatment on the seventh day after admission the functional endoscopic sinus surgery was performed. Due to massive tissue hypoperfusion the necrosis in the skin of the lower limbs occurred. Due to the lack of effectiveness antimicrobial therapy use of intravenous ceftaroline was administrated. Effective treatment allowed in day 11 to wean the patient from the ventilator. At the day 26 the patient was transferred to a hospital in the place of residence. PMID:26802691

  5. Extensive ameloblastic fibroma of the mandibula in a female adult patient: A case report with a follow-up of 3 years

    PubMed Central

    Tozoglu, Sinan; Hatipoglu, Mukerrem; Aytekin, Zeliha; Gurer, Elif Inanc

    2016-01-01

    Ameloblastic fibroma (AF) is rare benign odontogenic tumour which usually occurs in the first two decades of life. It can occur either the mandible or maxilla but it is most frequently found in the posterior region of the mandible. Treatment of AF in usual is a conservative approach, such as enucleation and curettage but the aggressive lesions require a radical approach. A more radical approach should be considered in older patients who have likely high recurrence tendency. This report describes a case of AF in a 38-year-old female patient identified during a routine radiographic exam. Tomographic examination through three-dimensional reconstruction indicated vestibular fenestration of the cortical bone, with involvement of lingual cortical bone as the lession extended to the posterior region. We removed the tumor under local anesthesia. In this case patient has continued to be followed frequently and has been disease-free for 3 years. PMID:27011753

  6. Female genetic distribution bias in mitochondrial genome observed in Parkinson’s Disease patients in northern China

    PubMed Central

    Chu, Qiaohong; Luo, Xiaoguang; Zhan, Xiaoni; Ren, Yan; Pang, Hao

    2015-01-01

    Genetic polymorphisms associated with susceptibility to Parkinson’s disease (PD) have been described in mitochondrial DNA (mtDNA). To explore the potential contribution of mtDNA mutations to the risk of PD in a Chinese population, we examined the linkage relationship between several single nucleotide polymorphisms (SNPs) and haplotypes in mtDNA and PD. We genotyped 5 SNPs located on coding genes using PCR-RFLP analysis. A specific allele 10398G demonstrated an increased risk of PD (OR 1.30; 95% CI 0.95–1.76; P = 0.013). After stratification by gender, the increased risk appeared to be more significant in females (OR 1.91; 95% CI 1.16–3.16; P = 0.001). But the significance only appeared in females under Bonferroni correction. No significant differences were detected for other SNPs (T4336C, G5460A, G9055A, and G13708A). Individual haplotype composed of 4336T-5460G-9055G-10398A-13708G was found to be associated with protective effect regarding PD (P = 0.0025). The haplotypes 4336T-5460G-9055G-10398G-13708G and 4336T-5460G-9055G-10398A-13708G were more significantly associated in females (P = 0.0036 for risk and P = 0.0006 for protective effects). These data suggest that the A10398G and two haplotypes coupled with 10398A or 10398G are closely associated with susceptibility to PD in a northern Chinese population. This association demonstrated a female genetic distribution bias. PMID:26602989

  7. Factors predictive of clinical pregnancy in the first intrauterine insemination cycle of 306 couples with favourable female patient characteristics.

    PubMed

    Aydin, Yunus; Hassa, Hikmet; Oge, Tufan; Tokgoz, Vehbi Yavuz

    2013-12-01

    The objective of this study was to evaluate the factors predictive of clinical pregnancy in the first superovulation/intrauterine insemination (SO/IUI) cycle of couples with favourable female characteristics. We analyzed retrospectively the first SO/IUI cycle of 306 infertile couples with mild male factor infertility and unexplained infertility. The women had a favourable prognosis in terms of ovarian reserve. Univariate logistic regression analyses identified body mass index (BMI) [odds ratio (OR) = 0.9, P = 0.014], sperm concentration [OR = 1.007, P = 0.007] and inseminating motile sperm count (IMC) [OR = 1.007, P = 0.032] as significant predictive factors of clinical pregnancy. Multivariate logistic regression analysis identified BMI [OR = 0.87, P = 0.008] and sperm concentration [OR = 1.008, P = 0.011] as significant factors. Pregnant and non-pregnant groups did not differ significantly in terms of the age and smoking status of the woman, duration and type of infertility, length of the stimulation, total gonadotropin dosage or antral follicle count. Of the female characteristics investigated, BMI was the most significant predictive factor of clinical pregnancy in the first SO/IUI cycle of couples with unexplained or mild male factor infertility and favourable female characteristics. In overweight women, weight loss should be advised before starting SO/IUI. Sperm concentration and IMC were significant male predictive factors for clinical pregnancy in the first SO/IUI. PMID:24171641

  8. Spectral imaging characterization of MOEM tunable Fabry-Perot filter

    NASA Astrophysics Data System (ADS)

    Gupta, Neelam

    2012-03-01

    A miniature MOEM tunable Fabry-Perot (FP) filter development program to fabricate filters operating over spectral regions from the visible to the longwave infrared has recently succeeded in fabricating filters operating over visible/near infrared wavelength region from 400 to 800 nm. The main objective of this program is to design miniature hyperspectral imagers by placing such a miniature tunable FP filter in front of a commercial focal plane array with a suitable optical train. This novel MOEM filter design is based on using two semitransparent 30-nm thick silver-film mirrors-one fixed and one moving with application of an electrostatic force. The silver films were grown on low-cost thin commercial quartz wafers with low total thickness variation. The moving mirror is held in place by three leaf spring arm structures which were fabricated by wet etching of the quartz substrate. The size of the MOEM device is 18×24 mm2. The tunable FP filter has a 6-mm optical aperture. The fixed part has three electrodes to apply voltages and the moving mirror is used as a ground electrode. Au bumps were deposited in both parts in order to control the initial air gap distance and an Au-Au bonding was used to bond the two parts together. The electrostatic actuation changes the spacing between the two mirrors which changes the transmitted wavelength. The spectral imaging performance of MOEM filter was characterized using a tunable source and a CCD camera with suitable optics. This paper describes the MOEM filter, its characteristics and present spectral imaging characterization experiment and results.

  9. Fiber Fabry-Perot interferometer with controllable temperature sensitivity.

    PubMed

    Zhang, Xinpu; Peng, Wei; Zhang, Yang

    2015-12-01

    We proposed a fiber taper based on the Fabry-Perot (FP) interferometer structure with controllable temperature sensitivity. The FP interferometer is formed by inserting a segment of tapered fiber tip into the capillary and subsequently splicing the other end of the capillary to a single-mode fiber (SMF), the tapered fiber endface, and the spliced face form the FP cavity. Through controlling the inserted tapered fiber length, a series of FP interferometers were made. Because the inserted taper tip has the degree of freedom along the fiber axial, when the FP interferometer is subjected to temperature variation, the thermal expansion of the fiber taper tip will resist the FP cavity length change caused by the evolution of capillary length, and we can control the temperature sensitivity by adjusting the inserted taper length. In this structure, the equivalent thermal expansion coefficient of the FP interferometer can be defined; it was used to evaluate the temperature sensitivity of the FP interferometer, which provides an effective method to eliminate the temperature effect and to enhance other measurement accuracy. We fabricated the FP interferometers and calibrated their temperature characters by measuring the wavelength shift of the resonance dips in the reflection spectrum. In a temperature range of 50°C to 150°C, the corresponding temperature sensitivities can be controlled between 0 and 1.97 pm/°C when the inserted taper is between 75 and 160 μm. Because of its controllable temperature sensitivity, ease of fabrication, and low cost, this FP interferometer can meet different temperature sensitivity requirements in various application areas, especially in the fields which need temperature insensitivity. PMID:26625075

  10. Gamma radiation resistant Fabry-Perot fiber optic sensors

    NASA Astrophysics Data System (ADS)

    Liu, Hanying; Miller, Don W.; Talnagi, Joseph

    2002-08-01

    The Nuclear Regulatory Commission (NRC) in 1998 completed a study of emerging technologies that could be applicable to measurement systems in nuclear power plants [H. M. Hashemian [et al.], "Advanced Instrumentation and Maintenance Technologies for Nuclear Power Plants," NUREG/CR-5501 (1998)]. This study concluded that advanced fiber optic sensing technology is an emerging technology that should be investigated. It also indicated that there had been very little research related to performance evaluation of fiber optic sensors in nuclear plant harsh environments, although substantial research has been performed on nuclear radiation effects on optical fibers in the last two decades. A type of Fabry-Perot fiber optic temperature sensor, which is manufactured by Fiso Technologies in Canada, is qualified to be a candidate for potential applications in nuclear radiation environment due to its unique signal processing technique and its resistance to power loss. The gamma irradiation effects on this type of sensors are investigated in this article. Two sensors were irradiated in a gamma irradiation field and one of them was irradiated up to a total gamma dose of 133 Mrad. The sensor on-line performance was monitored during each gamma irradiation test. Furthermore, the sensor static and dynamic performance before and after each irradiation test were evaluated according to the Standard ISA-dS67.06.01 ("Performance Monitoring for Nuclear Safety-Related Instrument Channels in Nuclear Power Plants", Standard ISA-dS67.06.01, Draft 7, Instrument Society of America, 1999). Although several abnormal phenomena were observed, analysis shows that gamma irradiation is not accredited to the abnormal behavior, which implies that this type of sensor is suitable to a gamma irradiation environment with a high gamma dose.

  11. Wavelength calibration with Fabry Perot Interferometers - yes we can!

    NASA Astrophysics Data System (ADS)

    Franziskus Bauer, Florian; Zechmeister, Mathias; Reiners, Ansgar

    2015-08-01

    Hollow-cathode lamps (HCLs) are used as default wavelength standard for spectroscopic measurements but have a number of well-known shortcomings. Advancing to cm/s precision in radial velocity experiments requires more stable calibration sources with more uniform line distributions. Fabry Perot Interferometers (FPI) are a practical alternative with a well-suited line distribution at relatively low cost. We present a simple method to characterize FPIs using standard HCLs and including the FPI spectrum in the wavelength calibration process. We propose to use the HCL wavelength solution to define a rough wavelength scale that is used to approximate the FPI peak positions. We assume that the FPI mirror distance is a smooth function of wavelength and utilize the large number of FPI peaks (typically 10^4) to consistently model all FPI peak wavelengths. With this approach, we anchor the dense FPI lines with the absolute HCL-scale combining their precision and accuracy. We test our method with the HARPS spectrograph and compare our wavelength calibration to one derived from a laser frequency comb (LFC) spectrum. Our combined HCL/FPI wavelength calibration removes the known, large-amplitude distortions of 50 m/s that occur in the HCL solution. Direct comparison with the LFC solution bears only small differences between the LFC and the HCL/FPI solutions and demonstrates that the HCL/FPI solution can overcome the most important shortcomings in HCL wavelength solutions. An FPI can provide an economical alternative to LFCs in particular for smaller projects.

  12. Multiplexed extrinsic Fabry-Perot interferometers and applications

    NASA Astrophysics Data System (ADS)

    Murphy, Kent A.; Bhatia, Vikram; Claus, Richard O.; Duncan, Paul G.; Jones, Mark E.; Grace, Jennifer L.; Greene, Jonathan A.; Tran, Tuan A.

    1995-09-01

    Extrinsic Fabry-Perot interferometric (EFPI) sensors have previously been demonstrated for relative strain and temperature measurements for smart structure applications. Inherent difficulties in the signal processing of these devices has created the need for absolute measurement capabilities. In this paper, we present an absolute measurement technique based upon white-light interferometric path matching. The system matches a reference gap to the sensing gap of an EFPI. When the difference of these two lengths is within the coherence length of the source, an intensity envelope is created in the system output. Determination of the corresponding path mismatch indicates the size of the sensor gap and hence strain can be determined. This measurement technique is capable of multiplexing an array of EFPI sensors and data will be presented demonstrating four multiplexed devices. Theoretical considerations for system optimization are also presented. As the only fiber-optic sensors subcontractor to Northrop Corporation on the Navy/Air Force-sponsored Smart Metallic Structures (SMS) program, Fiber & Sensor Technologies (F&S) is developing the optical fiber fatigue gage instrumentation for a multiplexed, in situ structural health monitoring system for aging aircraft. In March, 1995, F&S successfully demonstrated the system on a full-size F/A-18 wing-box spar fully instrumented with 12 of F&S' patented EFPI optical fiber strain gages. F&S is now in process of up-scaling the signal processing system in addition to the optics and intends to demonstrate a second generation multipoint sensor system capable of simultaneously monitoring strains at up to 60 different sites throughout the aircraft later in 1995 or early 1996.

  13. Reliability of the ALPHA environmental questionnaire and its association with physical activity in female fibromyalgia patients: the al-Ándalus project.

    PubMed

    Herrador-Colmenero, Manuel; Ruiz, Jonatan R; Ortega, Francisco B; Segura-Jiménez, Víctor; Álvarez-Gallardo, Inmaculada C; Camiletti-Moirón, Daniel; Estévez-López, Fernando; Delgado-Fernández, Manuel; Chillón, Palma

    2015-01-01

    Physical activity attenuates the symptoms of fibromyalgia, and its level is oftentimes associated with the perceived environment of fibromyalgia patients. Within this context, we aimed to study the reliability of the Spanish version of the Assessing Levels of Physical Activity (ALPHA) environmental questionnaire and the mode of commuting questionnaire. We also studied the association between the perceived environment and mode of commuting with physical activity levels among female fibromyalgia patients in Spain. Test-retest reliability was judged by the intra-class correlation coefficient (ICC), weighted kappa statistic, Spearman correlations and the proportion of agreement. We calculated bivariate Pearson's correlations between environmental sum scores and physical activity measured by both International Physical Activity Questionnaire (IPAQ) and accelerometry. More than 70% of the scales and items showed a good reliability regarding the ICC, the weighted kappa, the Spearman correlation and the percentage of inter-agreement (higher than 50%). The perceived environment assessed with the ALPHA showed a low correlation with both IPAQ and accelerometry. The Spanish version of the ALPHA environmental questionnaire proved to be reliable and showed a weak degree of association with physical activity in female fibromyalgia patients. PMID:25357996

  14. Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

    PubMed

    Wei, Xiaoming; Dai, Yi; Yu, Ping; Qu, Ning; Lan, Zhangzhang; Hong, Xiafei; Sun, Yan; Yang, Guanghui; Xie, Shuqi; Shi, Quan; Zhou, Hanlin; Zhu, Qian; Chu, Yuxing; Yao, Fengxia; Wang, Jinming; He, Jingni; Yang, Yun; Liang, Yu; Yang, Yi; Qi, Ming; Yang, Ling; Wang, Wei; Wu, Haitao; Duan, Jing; Shen, Cheng; Wang, Jun; Cui, Liying; Yi, Xin

    2014-01-01

    Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited neuromuscular disease. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of the dystrophin gene and complex causative mutation spectrum. Such traditional methods as multiplex ligation-dependent probe amplification plus Sanger sequencing require multiple steps to fulfill the diagnosis of DMD/BMD. Here, we introduce a new single-step method for the genetic analysis of DMD patients and female carriers in real clinical settings and demonstrate the validation of its accuracy. A total of 89 patients, 18 female carriers and 245 non-DMD patients were evaluated using our targeted NGS approaches. Compared with traditional methods, our new method yielded 99.99% specificity and 98.96% sensitivity for copy number variations detection and 100% accuracy for the identification of single-nucleotide variation mutations. Additionally, this method is able to detect partial deletions/duplications, thus offering precise personal DMD gene information for gene therapy. We detected novel partial deletions of exons in nine samples for which the breakpoints were located within exonic regions. The results proved that our new method is suitable for routine clinical practice, with shorter turnaround time, higher accuracy, and better insight into comprehensive genetic information (detailed breakpoints) for ensuing gene therapy. PMID:23756440

  15. Coprescription of Chinese herbal medicine and Western medication among female patients with breast cancer in Taiwan: analysis of national insurance claims

    PubMed Central

    Wang, Bih-Ru; Chang, Yuh-Lih; Chen, Tzeng-Ji; Chiu, Jen-Hwey; Wu, Jing Chong; Wu, Min-Shan; Chou, Chia-Lin; Chou, Yueh-Ching

    2014-01-01

    Background Many female breast cancer (FBC) patients take Chinese herbal medicine (CHM) and Western medication (WM) concurrently in Taiwan. Despite the possibility of interactions between the CHM and WM mentioned in previous studies, the pattern of these coprescriptions in FBC patients remains unclear. Hence, the aim of the present study is to investigate the utilization of coprescriptions of CHM and WM among the FBC patients in Taiwan. Methods The study was a cross-sectional survey using the sampled cohort in 2009 obtained from the National Health Insurance Research Database in Taiwan. There were 3,507 FBC patients identified from the registry for catastrophic illness patients. Ambulatory visit records, corresponding prescriptions, and the data of beneficiaries belonging to the FBC patients were further extracted. A total of 1,086 FBC patients used CHM at least once. CHM and WM prescribed within any overlapping duration were defined as coprescriptions. Results There were 868 (80.0%) patients simultaneously receiving CHM and WM. A total of 4,927 CHM prescriptions and 6,358 WM prescriptions were prescribed concurrently. Among these coprescriptions, the most frequently used CHM was jia-wei-xiao-yao-san (21.2%), and the most frequently coprescribed WM was acetaminophen (38.9%), followed by tamoxifen (25.5%). There were 346 patients using systemic adjuvant therapy and CHM concurrently. The most commonly coprescribed CHM with chemotherapy, endocrine therapy, and trastuzumab was xiang-sha-liu-jun-zi-tang, jia-wei-xiao-yao-san, and zhi-gan-cao-tang, respectively. Conclusion The combined use of CHM with WM is prevalent. The main purpose of combining CHM with systemic cancer treatment is to alleviate the treatment-related adverse effects. However, the combination may result in the potential risk of drug–herb interactions. Further clinical studies are needed to evaluate the efficacy and safety of the CHM and WM coprescriptions for FBC patients. PMID:24855343

  16. Association between fish and shellfish, and omega-3 PUFAs intake and CVD risk factors in middle-aged female patients with type 2 diabetes

    PubMed Central

    Kim, Hyesook; Park, Seokyung; Yang, Hyesu; Choi, Young Ju; Huh, Kap Bum

    2015-01-01

    BACKGROUND/OBJECTIVES This study was performed to investigate the association between the dietary intake of fish and shellfish, and omega-3 polyunsaturated fatty acids (PUFAs) and cardiovascular disease (CVD) risk factors in the middle-aged Korean female patients with Type 2 diabetes (T2D). SUBJECTS/METHODS A cross-sectional analysis was performed with 356 female patients (means age: 55.5 years), who were recruited from the Huh's Diabetes Clinic in Seoul, Korea between 2005 and 2011. The dietary intake was assessed by a validated semi-quantitative food frequency questionnaire and analyzed using the Computer Aided Nutritional Analysis program (CAN-Pro) version 4.0 software. RESULTS In a multiple regression analysis after the adjustment for confounding factors such as age, BMI, duration of diagnosed T2D, alcohol consumption, fiber intake, sodium intake, and total energy intake, fish and shellfish intake of the subjects was negatively associated with triglyceride and pulse wave velocity (PWV). Omega-3 PUFAs intake was negatively associated with triglyceride, systolic blood pressures, diastolic blood pressures, and PWV. The multiple logistic regression analysis with the covariates showed a significant inverse relationship between the omega-3 PUFAs consumption and prevalence of hypertriglyceridemia [OR (95% CI) for greater than the median compared to less than the median: 0.395 (0.207-0.753)]. CONCLUSIONS These results suggest that the consumption of fish and shellfish, good sources of omega-3 PUFAs, may reduce the risk factors for CVD in the middle-aged female patients with T2D. PMID:26425279

  17. Randomized Controlled Trial for Salvia sclarea or Lavandula angustifolia: Differential Effects on Blood Pressure in Female Patients with Urinary Incontinence Undergoing Urodynamic Examination

    PubMed Central

    Lee, Yun Hee; Kang, Purum; You, Ji Hye; Park, Mira; Min, Sun Seek

    2013-01-01

    Abstract Objectives The aim of this study was to investigate the effect of inhalation of Salvia sclarea (clary sage; clary) or Lavandula angustifolia (lavender) essential oil vapors on autonomic nervous system activity in female patients with urinary incontinence undergoing urodynamic assessment. Study design, location, and subjects This study was a double-blind, randomized, controlled trial carried out in 34 female patients with urinary incontinence. Outcome measure The subjects were randomized to inhale lavender, clary, or almond (control) oil at concentrations of 5% (vol/vol) each. Systolic blood pressure, diastolic blood pressure, pulse rate, respiratory rate, and salivary cortisol were measured before and after inhalation of these odors for 60 minutes. Results The clary oil group experienced a significant decrease in systolic blood pressure compared with the control (p=0.048) and lavender oil (p=0.026) groups, a significant decrease in diastolic blood pressure compared with the lavender oil group (p=0.034) and a significant decrease in respiratory rate compared with the control group (p<0.001). In contrast, the lavender oil group tended to increase systolic and diastolic blood pressure compared with the control group. Compared with the control group, inhalation of lavender oil (p=0.045) and clary oil (p<0.001) resulted in statistically significant reductions in respiratory rate. Conclusions These results suggest that lavender oil inhalation may be inappropriate in lowering stress during urodynamic examinations, despite its antistress effects, while clary oil inhalation may be useful in inducing relaxation in female urinary incontinence patients undergoing urodynamic assessments. PMID:23360656

  18. Müllerian Remnant Cyst as a Cause of Acute Abdomen in a Female Patient with Müllerian Agenesis: Radiologic and Pathologic Findings

    PubMed Central

    2016-01-01

    We report a case of a 17-year-old female with Müllerian agenesis who presented with right sided abdominal pain clinically suspicious for acute appendicitis. Multimodality imaging workup revealed a heterogeneous cystic right upper quadrant mass with surrounding fluid and inflammatory changes. Surgical resection of this mass was performed and a histopathologic diagnosis of a hemorrhagic Müllerian remnant cyst was made, which to the best of our knowledge has never been described in a patient with Müllerian agenesis. PMID:27446624

  19. Rayleigh Scattering Measurements Using a Tunable Liquid Crystal Fabry-Perot Interferometer

    NASA Technical Reports Server (NTRS)

    Mielke-Fagan, Amy F.; Clem, Michelle M.; Elam, Kristie A.

    2010-01-01

    Spectroscopic Rayleigh scattering is an established flow diagnostic that has the ability to provide simultaneous density, velocity, and temperature measurements. The Fabry-Perot interferometer or etalon is a commonly employed instrument for resolving the spectrum of molecular Rayleigh scattered light for the purpose of evaluating these flow properties. This paper investigates the use of a tunable liquid crystal (LC) Fabry-Perot etalon in Rayleigh scattering experiments at NASA Glenn Research Center. The LC etalon provides a robust interferometry system that can be tuned rapidly by adjusting the voltage applied to the liquid crystal interface. Tuning the interferometer is often necessary to control the physical locations of the concentric interference fringes when Rayleigh light is imaged through the LC etalon. The LC etalon diagnostic system was tested in a 1-cm diameter nozzle flow in two different scattering configurations to evaluate its usefulness for Rayleigh measurements compared to a traditional non-tunable fused silica Fabry-Perot etalon.

  20. Use of PZT's for adaptive control of Fabry-Perot etalon plate figure

    NASA Technical Reports Server (NTRS)

    Skinner, WIlbert; Niciejewski, R.

    2005-01-01

    A Fabry Perot etalon, consisting of two spaced and reflective glass flats, provides the mechanism by which high resolution spectroscopy may be performed over narrow spectral regions. Space based applications include direct measurements of Doppler shifts of airglow absorption and emission features and the Doppler broadening of spectral lines. The technique requires a high degree of parallelism between the two flats to be maintained through harsh launch conditions. Monitoring and adjusting the plate figure by illuminating the Fabry Perot interferometer with a suitable monochromatic source may be performed on orbit to actively control of the parallelism of the flats. This report describes the use of such a technique in a laboratory environment applied to a piezo-electric stack attached to the center of a Fabry Perot etalon.

  1. Method and apparatus for a Fabry-Perot multiple beam fringe sensor

    NASA Technical Reports Server (NTRS)

    James, Kenneth A. (Inventor); Quick, William H. (Inventor); Strahan, Virgil H. (Inventor)

    1982-01-01

    A method and the resulting apparatus for implementing a unique multiple beam fringe sensor that is adapted to be interfaced with a low cost, compact fiber optic transmission system in order to provide an accurate digital representation of a physical parameter (e.g. temperature) of a remote sample. The sensor is fabricated so as to include a Fabry-Perot gap formed between the ends of two mated optical fibers. By examining the optical characteristics of light that is transmitted through the Fabry-Perot sensor gap, an indication of gap width can be ascertained. Accordingly, a change in Fabry-Perot sensor gap width is related to a change in the particular physical parameter to be measured.

  2. Acid-etched Fabry-Perot micro-cavities in optical fibres

    NASA Astrophysics Data System (ADS)

    Machavaram, V. R.; Badcock, R. A.; Fernando, G. F.

    2007-07-01

    Significant progress has been made in recent years on the design and fabrication of optical fibre-based sensor systems for applications in structural health monitoring. Two sensor designs have tended to dominate namely, fibre Bragg gratings and extrinsic fibre Fabry-Perot sensors. However, the cost and time associated with these sensors is relatively high and as a consequence, the current paper describes a simple procedure to fabricate intrinsic fibre Fabry-Perot interferometric strain sensors. The technique involves the use of hydrofluoric acid to etch a cavity in a cleaved optical fibre. Two such etched cavities were fusion spliced to create an intrinsic fibre Fabry-Perot cavity. The feasibility of using this device for strain monitoring was demonstrated. Excellent correlation was obtained between the optical and surface-mounted electrical resistance strain gauge.

  3. The efficacy of oral isotretinoin versus cyproterone compound in female patients with acne and the triad of cutaneous hyperandrogenism: A randomized clinical trial

    PubMed Central

    Faghihi, Gita; Jamshidi, Kioumars; Tajmirriahi, Nabet; Abtahi-Naeini, Bahareh; Nilforoshzadeh, Mohamadali; Radan, Mohamadreza; Hosseini, Sayed Mohsen

    2014-01-01

    Background: SAHA (Seborrhea, Acne, Hirsutism and Androgenetic Alopecia) syndrome is a dermatologic disorder, with variant response to treatment. Triad of cutaneous hyperandrogenism included nodulocystic or severe acne, female pattern hair loss and hirsutism. Aim: The aim of this study is to compare the effectiveness of isotretinoin and cyproterone compound in the treatment of nodulocystic acne, in patients with SAHA syndrome or triad of cutaneous hyperandrogenism. Materials and Methods: 30 female patients with SAHA syndrome were divided randomly into two groups. Group A was treated with cyproterone compound from day 5 of menstrual cycle onwards for 3 weeks and a week without it and group B received isotretinoin, with a dose of 0.75 mg/kg per day from the beginning of menses onwards for 4 months. The results were evaluated by a blind dermatologist using Acne Severity Index (ASI) score at baseline and monthly for 4 months. Results: Despite a continuous reduction in ASI score in both the groups, according to both physician (P = 0.63) and patient (P = 0.25) assessment, cyproterone compound was not statistically more effective than conventional treatment of nodulocystic acne at the end of the study. Side-effects were reported in patients in both groups, generally being mild and tolerable except in two subjects. Conclusion: This study indicates that cyproterone compound is not superior to isotretinoin in the treatment of nodulocystic acne in patient with SAHA syndrome or triad of cutaneous hyperandrogenism. Indeed, other studies are needed to evaluate the effect of cyproterone compound (regardless of androgen level) and isotretinoin in subjects with only nodulocystic acne. PMID:25625101

  4. Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.

    PubMed

    Nguyen Dinh Cat, Aurelie; Escoubet, Brigitte; Agrapart, Vincent; Griol-Charhbili, Violaine; Schoeb, Trenton; Feng, Wenguang; Jaimes, Edgar; Warnock, David G; Jaisser, Frederic

    2012-01-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3-4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studies were consistent with early stages of cardiac remodeling. A single dose of agalsidase-beta (3 mg/kg) did not affect the LV hypertrophy, function or heart rate, but did improve the mRNA signals of early cardiac remodeling. In conclusion, the alpha-galactosidase A deficient mice at 3 to 4 months of age have cardiac and vascular alterations similar to that described in early clinical stage of Fabry disease in children and adolescents. Enzyme replacement therapy affects cardiac molecular remodeling after a single dose. PMID:22574107

  5. High-temperature fiber-optic Fabry-Perot interferometric sensors

    SciTech Connect

    Ding, Wenhui; Jiang, Yi; Gao, Ran; Liu, Yuewu

    2015-05-15

    A photonic crystal fiber (PCF) based high-temperature fiber-optic sensor is proposed and experimentally demonstrated. The sensor head is a Fabry-Perot cavity manufactured with a short section of endless single-mode photonic crystal fiber (ESM PCF). The interferometric spectrum of the Fabry-Perot interferometer is collected by a charge coupled device linear array based micro spectrometer. A high-resolution demodulation algorithm is used to interrogate the peak wavelengths. Experimental results show that the temperature range of 1200 °C and the temperature resolution of 1 °C are achieved.

  6. High-temperature fiber-optic Fabry-Perot interferometric sensors.

    PubMed

    Ding, Wenhui; Jiang, Yi; Gao, Ran; Liu, Yuewu

    2015-05-01

    A photonic crystal fiber (PCF) based high-temperature fiber-optic sensor is proposed and experimentally demonstrated. The sensor head is a Fabry-Perot cavity manufactured with a short section of endless single-mode photonic crystal fiber (ESM PCF). The interferometric spectrum of the Fabry-Perot interferometer is collected by a charge coupled device linear array based micro spectrometer. A high-resolution demodulation algorithm is used to interrogate the peak wavelengths. Experimental results show that the temperature range of 1200 °C and the temperature resolution of 1 °C are achieved. PMID:26026548

  7. Silk fibroin diaphragm-based fiber-tip Fabry-Perot pressure sensor.

    PubMed

    Cheng, Linghao; Wang, Cengzhong; Huang, Yunyun; Liang, Hao; Guan, Bai-Ou

    2016-08-22

    A miniature fiber-optic Fabry-Perot is built on the tip of a single mode fiber with a thin silk fibroin film as the diaphragm for pressure measurement. The silk fibroin film is regenerated from aqueous silk fibroin solution obtained by an environmentally benign fabrication process, which exhibits excellent optical and physicochemical properties, such as transparency in visible and near infrared region, membrane-forming ability, good adhesion, and high mechanical strength. The resulted Fabry-Perot pressure sensor is therefore highly biocompatible and shows good airtightness with a response of 12.3 nm/kPa in terms of cavity length change. PMID:27557238

  8. Nanocomposite polyacrylamide based open cavity fiber Fabry-Perot humidity sensor.

    PubMed

    Yao, Jun; Zhu, Tao; Duan, De-Wen; Deng, Ming

    2012-11-01

    A humidity sensor with a low temperature sensitivity is proposed and demonstrated by coating a nanocomposite hygrometer polyacrylamide in an open interferometric cavity of a fiber Fabry-Perot interferometer. In this paper the Fabry-Perot structure is formed by splicing one short section of single mode fiber between two sections of single mode fiber with a larger offset fusing method. Experimental results show that relative humidity (RH) sensitivity of the sensor is ∼0.1 nm/(1% RH) in the range of 38% to 78% RH and ∼5.868 nm/(1%RH) in the range of 88% to 98% RH, respectively. PMID:23128715

  9. In-fiber Fabry-Perot refractometer assisted by a long-period grating.

    PubMed

    Mosquera, L; Sáez-Rodriguez, D; Cruz, J L; Andrés, M V

    2010-02-15

    We present an optical fiber refractometer based on a Fabry-Perot interferometer defined by two fiber Bragg gratings and an intracavity long-period grating that makes the light confined in the resonator interact with the surrounding medium. The external refractive index is monitored by the resonant frequencies of the Fabry-Perot interferometer, which can be measured either in transmission or in reflection. In this first experiment, wavelength shifts measured with a resolution of 0.1 pm have allowed one to establish a refractive index detection limit of 2.1x10(-5). PMID:20160835

  10. Flat top liquid crystal tunable filter using coupled Fabry-Perot cavities.

    PubMed

    Alboon, Shadi A; Lindquist, Robert G

    2008-01-01

    In this paper, a coupled Fabry-Perot cavities filter, using the liquid crystal as the tunable medium, is investigate to achieve tunable flat top filtering performance across the C and L bands. A tandem coupled Fabry-Perot is presented for a tunable passband filter with flat top and minimum ripple in the passband. The overall tuning range of the filter is 172 nm. Several designs are shown with comparable performance to the commercial available 100 GHz fixed single channel filters. PMID:18521153

  11. Tunable Fabry-Perot filter for imaging spectroscopy in the infrared

    NASA Astrophysics Data System (ADS)

    Schwarze, Craig R.; Rentz, Julia R.; Carlson, David L.; Vaillancourt, Robert M.; Genetti, George J.; Engel, James R.

    2002-02-01

    We present a new hyperspectral imaging system for the long wave infrared (LWIR) based on a tunable first-order Fabry-Perot Scanning Spectrometer (FPSS). The FPSS operates over 8 O 12 micrometers with a spectral resolution of 1% of the wavelength. The FPSS has a 22 degree field of view and a spatial resolution of 0.11 degrees. The key components of the FPSS system are the collection optics, a tunable Fabry-Perot etalon, optical position sensors, a closed-loop positioning system, an uncooled microbolometer focal plane array, a digital frame grabber card, and a user-friendly Graphical User Interface (GUI).

  12. Robust Fabry-Perot interference in dual-gated Bi2Se3 devices

    NASA Astrophysics Data System (ADS)

    Finck, A. D. K.; Kurter, C.; Huemiller, E. D.; Hor, Y. S.; Van Harlingen, D. J.

    2016-05-01

    We study Fabry-Perot interference in hybrid devices, each consisting of a mesoscopic superconducting disk deposited on the surface of a three-dimensional topological insulator. Such structures are hypothesized to contain protected zero modes known as Majorana fermions bound to vortices. The interference manifests as periodic conductance oscillations of magnitude ˜ 0.1 e 2 / h . These oscillations show no strong dependence on bulk carrier density or sample thickness, suggesting that they result from phase coherent transport in surface states. However, the Fabry-Perot interference can be tuned by both top and back gates, implying strong electrostatic coupling between the top and bottom surfaces of topological insulator.

  13. Extrinsic fiber-optic Fabry-Perot interferometer sensor for refractive index measurement of optical glass

    SciTech Connect

    Chen Jihuan; Zhao Jiarong; Huang Xuguang; Huang Zhenjian

    2010-10-10

    A simple fiber-optic sensor based on Fabry-Perot interference for refractive index measurement of optical glass is investigated both theoretically and experimentally. A broadband light source is coupled into an extrinsic fiber Fabry-Perot cavity formed by the surfaces of a sensing fiber end and the measured sample. The interference signals from the cavity are reflected back into the same fiber. The refractive index of the sample can be obtained by measuring the contrast of the interference fringes. The experimental data meet with the theoretical values very well. The proposed technique is a new method for glass refractive index measurement with a simple, solid, and compact structure.

  14. Use of gamma ray radiation to parallel the plates of a Fabry-Perot interferometer

    NASA Technical Reports Server (NTRS)

    Skinner, Wilbert R.; Hays, Paul B.; Anderson, Sally M.

    1987-01-01

    The use of gamma radiation to parallel the plates of a Fabry-Perot etalon is examined. The method for determining the etalon parallelism, and the procedure for irradiating the posts are described. Changes in effective gap for the etalon over the surface are utilized to measure the parallelism of the Fabry-Perot etalon. An example in which this technique is applied to an etalon of fused silica plates, which are 132 mm in diameter and coded with zinc sulfide and cryolite, with Zerodur spaces 2 cm in length. The effect of the irradiation of the posts on the thermal performance of the etalon is investigated.

  15. Wide-Angle Spectral Imaging Using a Fabry-Pérot Interferometer

    NASA Astrophysics Data System (ADS)

    Strauch, M.; Livshits, I. L.; Bociort, F.; Urbach, H. P.

    2015-07-01

    We show that wide-angle spectral imaging can be achieved with compact and cost-effective devices using Fabry-Pérot interferometers. Designs with a full field of view of 90°, in which the Fabry-Pérot interferometer is mounted either in front of an imaging lens system or behind a telecentric lens system, are presented and analysed. We show the dependency of the spectral resolution on the numerical aperture of the lens system and demonstrate its value as a design criterion.

  16. CIV Polarization Measurements using a Vacuum Ultraviolet Fabry-Perot Interferometer

    NASA Technical Reports Server (NTRS)

    West, Edward; Gary, G. Allen; Cirtain, Jonathan; David, John; Kobayashi, Ken; Pietraszewski, Chris

    2009-01-01

    Marshall Space Flight Center's (MSFC) is developing a Vacuum Ultraviolet (VUV) Fabry-P rot Interferometer that will be launched on a sounding rocket for high throughput, high-cadence, extended field of view CIV (155nm) measurements. These measurements will provide (i) Dopplergrams for studies of waves, oscillations, explosive events, and mass motions through the transition region, and, (ii), polarization measurements to study the magnetic field in the transition region. This paper will describe the scientific goals of the instrument, a brief description of the optics and the polarization characteristics of the VUV Fabry P rot.

  17. Missed Opportunities in the Patient-Focused Drug Development Public Meeting and Scientific Workshop on Female Sexual Dysfunction Held at the FDA, October 2014.

    PubMed

    Tiefer, Leonore; Laan, Ellen; Basson, Rosemary

    2015-01-01

    There were numerous missed opportunities at the October 2014 U.S. Food and Drug Administration (FDA) meeting on female sexual dysfunction (FSD). They included opportunities to hear from a diverse range of patients and to engage in evidence-based discussions of unmet medical needs, diagnostic instruments, trial end points, and inclusion criteria for clinical trials. Contributions of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) nomenclature, based on extensive research, were dismissed in favor of language favoring a seemingly clear but scientifically unsupportable distinction between women's sexual desire and arousal. Numerous participants, including patients recruited by their physicians, acknowledged travel expenses paid for by interested pharmaceutical companies. Conflicts of interest were manifold. The meeting did not advance the FDA's understanding of women's sexual distress and represents a setback for our field. PMID:26010838

  18. Prelamination of Neourethra with Uterine Mucosa in Radial Forearm Osteocutaneous Free Flap Phalloplasty in the Female-to-Male Transgender Patient

    PubMed Central

    Salgado, Christopher J.; Chim, Jimmy; Medina, Carlos A.; Demaso, Stephanie; Gomez, Christopher

    2016-01-01

    Radial forearm free flap phalloplasty is the most commonly performed flap for neophallus construction in the female-to-male (FtM) transgender patient. Urological complications, however, can arise quite frequently and can prevent the patient from urinating in the standing position, an important postsurgical goal for many. Using mucosa to construct the fixed urethra and to prelaminate the penile urethra has been successful in reducing urologic complications, particularly strictures and fistulas. Until now, only buccal, vaginal, colonic, and bladder sites have been described as sources for these mucosal grafts. We present the successful use of uterine mucosa for prelamination of the neourethra in an FtM patient who underwent hysterectomy and vaginectomy at the prelamination stage of a radial forearm phalloplasty. Three months postoperatively, the patient was able to void while standing and showed no evidence of stricture or fistula on retrograde cystogram. These results suggest that uterine mucosa may be used for prelamination of the penile neourethra in patients undergoing phalloplasty. PMID:27069708

  19. Female condoms

    MedlinePlus

    ... female condoms at most drugstores, STI clinics, and family planning clinics. You need to plan to have a ... Jensen JT, Mishell DR. Family planning: contraception, ... Katz VL, eds. Comprehensive Gynecology . 6th ed. Philadelphia, ...

  20. Female Infertility

    MedlinePlus

    Infertility means not being able to get pregnant after at least one year of trying (or 6 ... woman keeps having miscarriages, it is also called infertility. Female infertility can result from age, physical problems, ...

  1. Prevalence of intimate partner violence and its associated risk factors among Saudi female patients attending the primary healthcare centers in Western Saudi Arabia

    PubMed Central

    Alzahrani, Turki A.; Abaalkhail, Bahaa A.; Ramadan, Iman K.

    2016-01-01

    Objectives: To estimate the prevalence of intimate partner violence (IPV) among female patients, age 18-60 years, attending primary health care centers (PHCCs) and to measure its determinants, and reporting behavior. Methods: A cross-sectional study design using validated, translated, and self-administered questionnaire among 497 Saudi female patients attending PHCCs in Taif, Kingdom of Saudi Arabia (KSA) from January to February 2015 was employed. A 2-stage probability sampling was adopted for selection of PHCCs in the first stage, and then participants in the second stage. Results: The estimated prevalence of IPV during the last year was 11.9%. Predictors of IPV related to abused women included divorced status and divorced parents; while those related to abusers (husbands) included widowed parents, exposure to violence in childhood, and alcohol or drugs addiction. Most of the abused wives (56%) talked regarding their IPV to their families, their husbands’ families (15.2%), or their friends (11.8%); while only a minority (3.3%) complained to the police or to a judge, and no one reported this to a family physician, or to women protection agency. Conclusion: One out of 10 women is a victim of IPV in Taif, KSA. Intimate partner violence is significantly associated with a number of victim and abuser-related psychosocial factors, the detection of which might help screening for individuals at risk. PMID:26739983

  2. Cloning of the anhidrotic ectodermal dysplasia gene: Identification of cDNAs associated with CpG islands mapped near translocation breakpoint in two female patients

    SciTech Connect

    Srivastava, A.K.; Schlessinger, D.; Kere, J.

    1994-09-01

    The gene for the X chromosomal developmental disorder anhidrotic ectodermal dysplasia (EDA) has been mapped to Xq12-q13 by linkage analysis and is expressed in a few females with chromosomal translocations involving band Xq12-q13. A yeast artificial chromosome (YAC) contig (2.0 Mb) spanning two translocation breakpoints has been assembled by sequence-tagged site (STS)-based chromosomal walking. The two translocation breakpoints (X:autosome translocations from the affected female patients) have been mapped less than 60 kb apart within a YAC contig. Unique probes and intragenic STSs (mapped between the two translocations) have been developed and a somatic cell hybrid carrying the translocated X chromosome from the AK patient has been analyzed by isolating unique probes that span the breakpoint. Several STSs made from intragenic sequences have been found to be conserved in mouse, hamster and monkey, but we have detected no mRNAs in a number of tissues tested. However, a probe and STS developed from the DNA spanning the AK breakpoint is conserved in mouse, hamster and monkey, and we have detected expressed sequences in skin cells and cDNA libraries. In addition, unique sequences have been obtained from two CpG islands in the region that maps proximal to the breakpoints. cDNAs containing these sequences are being studied as candidates for the gene affected in the etiology of EDA.

  3. Antihypertensive Drug Use and New-Onset Diabetes in Female Patients with Coronary Artery Disease: A Population-based Longitudinal Cohort Study.

    PubMed

    Liou, Yi-Sheng; Chen, Hung-Yi; Tien, Lyun; Gu, Yi-Sian; Jong, Gwo-Ping

    2015-09-01

    Antihypertensives have been linked to new-onset diabetes (NOD) and different classes of antihypertensives may alter the risk for the development of NOD; however, the effect of different antihypertensives on the development of NOD in women with hypertension and coronary artery disease (CAD) has not been well studied. The purpose of this study is to investigate the association between usage of different antihypertensive drugs and the development of NOD in female patients with hypertension and CAD.Data in this retrospective cohort study were obtained from claim forms submitted to the Taiwan Bureau of National Health Insurance in central Taiwan during the period 2006-2011. We estimated the odds ratios (OR) to approximate the relative risk of NOD development associated with antihypertensive drug use.Of the 20,108 female patients with CAD at baseline, 2288 patients developed NOD during the 6-year follow-up. Subjects treated with angiotensin-converting enzyme (ACE) inhibitors (OR, 0.92; 95% confidence interval [CI], 0.84-1.00), angiotensin receptor blockers (OR, 0.92; 95% CI, 0.82-0.99), and alpha-blockers (OR, 0.88; 95% CI, 0.79-0.98) in the adjusted analyses had greater reductions of the risk than among nonusers. Patients who took diuretics (OR, 1.10; 95% CI, 1.01-1.20), beta-blockers (OR, 1.12; 95% CI, 1.04-1.21), and calcium channel blockers (OR, 1.10; 95% CI, 1.02-1.18) were at high risk of developing NOD than nonusers. Vasodilators were not associated with risk of NOD.We conclude that women with hypertension who take ACE inhibitors, angiotensin receptor blockers, and alpha-blockers are at lower risk of NOD and that use of diuretics, beta-blockers, and calcium channel blockers was associated with a significantly increased risk of developing NOD during the 6-year follow-up. PMID:26356715

  4. Solar CIV Vacuum-Ultraviolet Fabry-Perot Interferometers

    NASA Technical Reports Server (NTRS)

    Gary, G. Allen; West, Edward A.; Rees, David; McKay, Jack A.; Zukic, Maumer; Herman, Peter

    2006-01-01

    Aims: A tunable, high spectral resolution, high effective finesse, vacuum ultraviolet (VUV) Fabry-Perot interferometer (PPI) is designed for obtaining narrow-passband images, magnetograms, and Dopplergrams of the transition region emission line of CIV (155 nm). Methods: The integral part of the CIV narrow passband filter package (with a 2-10 pm FWHM) consists of a multiple etalon system composed of a tunable interferometer that provides high-spectral resolution and a static low-spectral resolution interferometer that allows a large effective free spectral range. The prefilter for the interferometers is provided by a set of four mirrors with dielectric high-reflective coatings. A tunable interferometer, a VUV piezoelectric-control etalon, has undergone testing using the surrogate F2 eximer laser line at 157 nm for the CIV line. We present the results of the tests with a description of the overall concept for a complete narrow-band CIV spectral filter. The static interferometer of the filter is envisioned as being hudt using a set of fixed MgF2 plates. The four-mirror prefilter is designed to have dielectric multilayer n-stacks employing the design concept used in the Ultraviolet Imager of NASA's Polar Spacecraft. A dual etalon system allows the effective free spectral range to be commensurate with the prefilter profile. With an additional etalon, a triple etalon system would allow a spectrographic resolution of 2 pm. The basic strategy has been to combine the expertise of spaceflight etalon manufacturing with VUV coating technology to build a VUV FPI which combines the best attributes of imagers and spectrographs into a single compact instrument. Results. Spectro-polarimetry observations of the transition region CIV emission can be performed to increase the understanding of the magnetic forces, mass motion, evolution, and energy release within the solar atmosphere at the base of the corona where most of the magnetic field is approximately force-free. The 2D imaging

  5. Hybrid computational phantoms of the male and female newborn patient: NURBS-based whole-body models

    NASA Astrophysics Data System (ADS)

    Lee, Choonsik; Lodwick, Daniel; Hasenauer, Deanna; Williams, Jonathan L.; Lee, Choonik; Bolch, Wesley E.

    2007-07-01

    Anthropomorphic computational phantoms are computer models of the human body for use in the evaluation of dose distributions resulting from either internal or external radiation sources. Currently, two classes of computational phantoms have been developed and widely utilized for organ dose assessment: (1) stylized phantoms and (2) voxel phantoms which describe the human anatomy via mathematical surface equations or 3D voxel matrices, respectively. Although stylized phantoms based on mathematical equations can be very flexible in regard to making changes in organ position and geometrical shape, they are limited in their ability to fully capture the anatomic complexities of human internal anatomy. In turn, voxel phantoms have been developed through image-based segmentation and correspondingly provide much better anatomical realism in comparison to simpler stylized phantoms. However, they themselves are limited in defining organs presented in low contrast within either magnetic resonance or computed tomography images—the two major sources in voxel phantom construction. By definition, voxel phantoms are typically constructed via segmentation of transaxial images, and thus while fine anatomic features are seen in this viewing plane, slice-to-slice discontinuities become apparent in viewing the anatomy of voxel phantoms in the sagittal or coronal planes. This study introduces the concept of a hybrid computational newborn phantom that takes full advantage of the best features of both its stylized and voxel counterparts: flexibility in phantom alterations and anatomic realism. Non-uniform rational B-spline (NURBS) surfaces, a mathematical modeling tool traditionally applied to graphical animation studies, was adopted to replace the limited mathematical surface equations of stylized phantoms. A previously developed whole-body voxel phantom of the newborn female was utilized as a realistic anatomical framework for hybrid phantom construction. The construction of a hybrid

  6. Development and validation of the Female Sexual Function Index adaptation for breast cancer patients (FSFI-BC).

    PubMed

    Bartula, Iris; Sherman, Kerry A

    2015-08-01

    Sexual dysfunction following breast cancer treatment is common and screening for this is recommended. This study determined the reliability, validity, and acceptability of a breast cancer-specific adaptation of the Female Sexual Function Index, the FSFI-BC. This new measure addresses limitations in the FSFI when assessing sexual dysfunction of women with breast cancer regarding applicability to non-sexually active women, measuring distress and changes after cancer. Female breast cancer survivors (n = 596; 429 sexually active, 166 non-sexually active) completed an online survey including demographic/medical information, the FSFI-BC, and scales measuring sexual functioning, fatigue, body image, physical and mental health, and relationship adjustment (Time 1). Three weeks later, 326 women (245 sexually active; 81 non-sexually active) completed the Time 2 survey including the FSFI-BC, and questions regarding its acceptability and perceived change in sexual functioning. Reliability, construct validity, and acceptability were examined using standard scale validation techniques. Exploratory factor analysis delineated seven factors: Changes after cancer, desire/arousal, lubrication, orgasm, pain, satisfaction, and distress, accounting for 79.98 % (sexually active) and 77.19 % (non-active) variance in responses. Acceptable internal consistencies (non-active: α = 0.71-0.96; sexually active: α = 0.89-0.96) and test-retest reliabilities (non-active: r = 0.63-0.86; sexually active: r = 0.71-0.88) were evident. Inter-scale correlations provided evidence for convergent and divergent validities of the FSFI-BC. Both sexually active and non-active women provided positive feedback about the FSFI-BC. The optional partner questions demonstrated clinical utility. With desirable psychometric properties and acceptability to participants, the FSFI-BC is suitable for screening for sexual dysfunction in women with breast cancer. PMID:26198992

  7. Hybrid computational phantoms of the 15-year male and female adolescent: Applications to CT organ dosimetry for patients of variable morphometry

    PubMed Central

    Lee, Choonsik; Lodwick, Daniel; Williams, Jonathan L.; Bolch, Wesley E.

    2008-01-01

    Currently, two classes of the computational phantoms have been developed for dosimetry calculation: (1) stylized (or mathematical) and (2) voxel (or tomographic) phantoms describing human anatomy through mathematical surface equations and three-dimensional labeled voxel matrices, respectively. Mathematical surface equations in stylized phantoms provide flexibility in phantom design and alteration, but the resulting anatomical description is, in many cases, not very realistic. Voxel phantoms display far better anatomical realism, but they are limited in terms of their ability to alter organ shape, position, and depth, as well as body posture. A new class of computational phantoms—called hybrid phantoms—takes advantage of the best features of stylized and voxel phantoms—flexibility and anatomical realism, respectively. In the current study, hybrid computational phantoms representing reference 15-year male and female body anatomy and anthropometry are presented. For the male phantom, organ contours were extracted from the University of Florida (UF) 14-year series B male voxel phantom, while for the female phantom, original computed tomography (CT) data from two 14-year female patients were used. Polygon mesh models for the major organs and tissues were reconstructed for nonuniform rational B-spline (NURBS) surface modeling. The resulting NURBS∕polygon mesh models representing body contour and internal anatomy were matched to anthropometric data and reference organ mass data provided by the Centers for Disease Control and Prevention (CDC) and the International Commission on Radiation Protection (ICRP), respectively. Finally, two hybrid 15-year male and female phantoms were completed where a total of eight anthropometric data categories were matched to standard values within 4% and organ masses matched to ICRP data within 1% with the exception of total skin. To highlight the flexibility of the hybrid phantoms, 10th and 90th weight percentile 15-year male and

  8. Hybrid computational phantoms of the 15-year male and female adolescent: Applications to CT organ dosimetry for patients of variable morphometry

    SciTech Connect

    Lee, Choonsik; Lodwick, Daniel; Williams, Jonathan L.; Bolch, Wesley E.

    2008-06-15

    Currently, two classes of the computational phantoms have been developed for dosimetry calculation: (1) stylized (or mathematical) and (2) voxel (or tomographic) phantoms describing human anatomy through mathematical surface equations and three-dimensional labeled voxel matrices, respectively. Mathematical surface equations in stylized phantoms provide flexibility in phantom design and alteration, but the resulting anatomical description is, in many cases, not very realistic. Voxel phantoms display far better anatomical realism, but they are limited in terms of their ability to alter organ shape, position, and depth, as well as body posture. A new class of computational phantoms - called hybrid phantoms - takes advantage of the best features of stylized and voxel phantoms - flexibility and anatomical realism, respectively. In the current study, hybrid computational phantoms representing reference 15-year male and female body anatomy and anthropometry are presented. For the male phantom, organ contours were extracted from the University of Florida (UF) 14-year series B male voxel phantom, while for the female phantom, original computed tomography (CT) data from two 14-year female patients were used. Polygon mesh models for the major organs and tissues were reconstructed for nonuniform rational B-spline (NURBS) surface modeling. The resulting NURBS/polygon mesh models representing body contour and internal anatomy were matched to anthropometric data and reference organ mass data provided by the Centers for Disease Control and Prevention (CDC) and the International Commission on Radiation Protection (ICRP), respectively. Finally, two hybrid 15-year male and female phantoms were completed where a total of eight anthropometric data categories were matched to standard values within 4% and organ masses matched to ICRP data within 1% with the exception of total skin. To highlight the flexibility of the hybrid phantoms, 10th and 90th weight percentile 15-year male and

  9. Effects of music therapy on pain among female breast cancer patients after radical mastectomy: results from a randomized controlled trial.

    PubMed

    Li, Xiao-Mei; Yan, Hong; Zhou, Kai-Na; Dang, Shao-Nong; Wang, Duo-Lao; Zhang, Yin-Ping

    2011-07-01

    Music therapy has been used in multiple health care settings to reduce patient pain, anxiety, and stress. However, few available studies have investigated its effect on pain among breast cancer patients after radical mastectomy. The aim of this study was to explore the effects of music therapy on pain reduction in patients with breast cancer after radical mastectomy. This randomized controlled trial was conducted at the Surgical Department of Oncology Center, First Affiliated Hospital of Xi'an Jiaotong University from March to November 2009. A total of 120 breast cancer patients who received Personal Controlled Analgesia (PCA) following surgery (mastectomy) were randomly allocated to two groups, an intervention group and a control group (60 patients in each group). The intervention group accepted music therapy from the first day after radical mastectomy to the third admission to hospital for chemotherapy in addition to the routine nursing care, while the control group received only routine nursing care. Pain scores were measured at baseline and three post-tests using the General Questionnaire and Chinese version of Short-Form of McGill Pain Questionnaire. The primary endpoint was the change in the Pain Rating Index (PRI-total) score from baseline. Music therapy was found to reduce the PRI-total score in the intervention group significantly compared with the control group with a mean difference (95% CI) of -2.38 (-2.80, -1.95), -2.41 (-2.85, -1.96), and -1.87 (-2.33, -1.42) for the 1st, 2nd, and 3rd post-tests, respectively. Similar results were found for Visual Analogue Scale (VAS) and Present Pain Intensity (PPI) scores. The findings of the study provide some evidence that music therapy has both short- and long-term positive effects on alleviating pain in breast cancer patients following radical mastectomy. PMID:21537935

  10. Desire and the female analyst.

    PubMed

    Schaverien, J

    1996-04-01

    The literature on erotic transference and countertransference between female analyst and male patient is reviewed and discussed. It is known that female analysts are less likely than their male colleagues to act out sexually with their patients. It has been claimed that a) male patients do not experience sustained erotic transferences, and b) female analysts do not experience erotic countertransferences with female or male patients. These views are challenged and it is argued that, if there is less sexual acting out by female analysts, it is not because of an absence of eros in the therapeutic relationship. The literature review covers material drawn from psychoanalysis, feminist psychotherapy, Jungian analysis, as well as some sociological and cultural sources. It is organized under the following headings: the gender of the analyst, sexual acting out, erotic transference, maternal and paternal transference, gender and power, countertransference, incest taboo--mothers and sons and sexual themes in the transference. PMID:8666556

  11. Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice

    PubMed Central

    Pacienza, Natalia; Yoshimitsu, Makoto; Mizue, Nobuo; Au, Bryan CY; Wang, James CM; Fan, Xin; Takenaka, Toshihiro; Medin, Jeffrey A

    2012-01-01

    Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity that results in progressive globotriaosylceramide (Gb3) deposition. We created a fully congenic nonobese diabetic (NOD)/severe combined immunodeficiency (SCID)/Fabry murine line to facilitate the in vivo assessment of human cell-directed therapies for Fabry disease. This pure line was generated after 11 generations of backcrosses and was found, as expected, to have a reduced immune compartment and background α-gal A activity. Next, we transplanted normal human CD34+ cells transduced with a control (lentiviral vector-enhanced green fluorescent protein (LV-eGFP)) or a therapeutic bicistronic LV (LV-α-gal A/internal ribosome entry site (IRES)/hCD25). While both experimental groups showed similar engraftment levels, only the therapeutic group displayed a significant increase in plasma α-gal A activity. Gb3 quantification at 12 weeks revealed metabolic correction in the spleen, lung, and liver for both groups. Importantly, only in the therapeutically-transduced cohort was a significant Gb3 reduction found in the heart and kidney, key target organs for the amelioration of Fabry disease in humans. PMID:22472949

  12. High-finesse fiber Fabry-Perot cavities: stabilization and mode matching analysis

    NASA Astrophysics Data System (ADS)

    Gallego, J.; Ghosh, S.; Alavi, S. K.; Alt, W.; Martinez-Dorantes, M.; Meschede, D.; Ratschbacher, L.

    2016-03-01

    Fiber Fabry-Perot cavities, formed by micro-machined mirrors on the end-facets of optical fibers, are used in an increasing number of technical and scientific applications, where they typically require precise stabilization of their optical resonances. Here, we study two different approaches to construct fiber Fabry-Perot resonators and stabilize their length for experiments in cavity quantum electrodynamics with neutral atoms. A piezo-mechanically actuated cavity with feedback based on the Pound-Drever-Hall locking technique is compared to a novel rigid cavity design that makes use of the high passive stability of a monolithic cavity spacer and employs thermal self-locking and external temperature tuning. Furthermore, we present a general analysis of the mode matching problem in fiber Fabry-Perot cavities, which explains the asymmetry in their reflective line shapes and has important implications for the optimal alignment of the fiber resonators. Finally, we discuss the issue of fiber-generated background photons. We expect that our results contribute toward the integration of high-finesse fiber Fabry-Perot cavities into compact and robust quantum-enabled devices in the future.

  13. Transfer functions of double- and multiple-cavity Fabry Perot filters driven by Lorentzian sources

    NASA Astrophysics Data System (ADS)

    Marti, Javier; Capmany, Jose

    1996-12-01

    We derive expressions for the transfer functions of double- and multiple-cavity Fabry Perot filters driven by laser sources with Lorentzian spectrum. These are of interest because of their applications in sensing and channel filtering in optical frequency-division multiplexing networks.

  14. APPLICATION OF A FABRY-PEROT INTERFEROMETRY TO REMOTE SENSING OF GASEOUS POLLUTANTS

    EPA Science Inventory

    A method for the remote sensing of molecular species via the rotational Raman effect was developed. The method uses the properties of a scanning Fabry-Perot interferometer to multiplex the spectra in a manner specific for a given species. Furthermore, the method allows the 'in pr...

  15. Development of tunable Fabry-Perot spectral camera and light source for medical applications

    NASA Astrophysics Data System (ADS)

    Kaarre, M.; Kivi, S.; Panouillot, P. E.; Saari, H.; Mäkynen, J.; Sorri, I.; Juuti, M.

    2013-05-01

    VTT has developed a fast, tunable Fabry-Perot (FP) filter component and applied it in making small, lightweight spectral cameras and light sources. One application field where this novel technology is now tested is medical field. A demonstrator has been made to test the applicability of FP based spectral filtering in the imaging of retina in visible light wavelength area.

  16. A new fiber-tip Fabry-Perot interferometer and its application for pressure measurement

    NASA Astrophysics Data System (ADS)

    Wang, Guanjun; Liu, Shen; Zhao, Jing; Liao, Changrui; Xu, Xizhen; Wang, Yiping

    2015-07-01

    This paper reports a new silica fiber-tip Fabry-Perot interferometer with thin film and large surface area characteristic for high pressure and vacuum degree detection simultaneously, which is fabricated by etching a flat fiber tip into concave surface firstly, with subsequent arc jointing the concave fiber into a inline Fabry-Perot cavity, then drawing one surface of the F-P cavity into several micrometers scale by arc discharge and finally etching the surface into sub-micrometer scale integrally. As the silica fiber-tip Fabry-Perot interferometer film thickness could be tailored very thinly by HF acid solution, plus the surface area of thin film could be expanded during the chemical etching process, the variation of the bubble cavity length is very sensitive to the inner/outer pressure difference of the fiber-tip Fabry-Perot interferometer. Experimental result shows an high sensitivity of 780nm/MPa is feasible. Such configuration has the advantages of lowcost, ease of fabrication and compact size, which make it a promising candidate for pressure and vacuum measurement.

  17. Low-Cost, Single-Frequency Sources for Spectroscopy Using Conventional Fabry-Perot Diode Lasers

    NASA Technical Reports Server (NTRS)

    Krainak, Michael A.; Duerksen, Gary L.

    1999-01-01

    Commercial (uncoated) Fabry-Perot laser diodes are converted to single-frequency spectroscopy sources by passively locking the laser frequency to the band edge of a fiber Bragg grating, which phase-locks the laser oscillations through self-injection seeding.

  18. Low-Cost, Single-Frequency Sources for Spectroscopy using Conventional Fabry-Perot Diode Lasers

    NASA Technical Reports Server (NTRS)

    Duerksen, Gary L.; Krainak, Michael A.

    1999-01-01

    Commercial (uncoated) Fabry-Perot laser diodes are converted to single-frequency spectroscopy sources by passively locking the laser frequency to the band edge of a fiber Bragg grating, which phase-locks the laser oscillations through self-injection seeding.

  19. Fabry disease and Factor V Leiden: a potent vascular risk combination.

    PubMed

    Tchan, M; Sillence, D

    2011-05-01

    A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio. Subsequent investigation revealed a second genetic diagnosis of Fabry disease. He then had an acute myocardial infarction whilst on aspirin and warfarin. PMID:21605293

  20. Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis.

    PubMed

    Aguilar-Moncayo, M; Takai, T; Higaki, K; Mena-Barragán, T; Hirano, Y; Yura, K; Li, L; Yu, Y; Ninomiya, H; García-Moreno, M I; Ishii, S; Sakakibara, Y; Ohno, K; Nanba, E; Ortiz Mellet, C; García Fernández, J M; Suzuki, Y

    2012-07-01

    Competitive inhibitors of either α-galactosidase (α-Gal) or β-galactosidase (β-Gal) with high affinity and selectivity have been accessed by exploiting aglycone interactions with conformationally locked sp(2)-iminosugars. Selected compounds were profiled as potent pharmacological chaperones for mutant lysosomal α- and β-Gal associated with Fabry disease and GM(1) gangliosidosis. PMID:22618082

  1. Study of H-alpha emission from solar limb prominences using Fabry-Perot interferometry

    NASA Astrophysics Data System (ADS)

    Jarrett, A. H.; Stapelberg, J.; Lategan, A. H.

    1981-02-01

    The Fabry-Perot interferometer is an effective dispersing element for studying H-alpha emission from solar limb prominences. Having a reflecting coefficient in the range 0.85-0.95, the Fabry-Perot multiple beam interferometer behaves as an angular filter, forming circular interference fringes. Results from an investigation performed at the solar installation at Boyden Observatory in South Africa are presented, where a photographic Fabry-Perot interferometer was used to obtain fringes from the 656.3-nm H-alpha emission during April and May 1980. Successful scans were made with air admitted to the interferometer pressure chamber, and reduction of the data on photon count and chamber pressure was made by a UNIVAC 1108 computer. Sketches and profiles from the limb prominences are shown; a table of fringe half-widths, corrected for the instrumental width of the interferometer, were obtained by matching a Voigt function by a least-squares computer fit to the observed scanned Fabry-Perot fringe profiles.

  2. Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice.

    PubMed

    Pacienza, Natalia; Yoshimitsu, Makoto; Mizue, Nobuo; Au, Bryan C Y; Wang, James C M; Fan, Xin; Takenaka, Toshihiro; Medin, Jeffrey A

    2012-07-01

    Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition. We created a fully congenic nonobese diabetic (NOD)/severe combined immunodeficiency (SCID)/Fabry murine line to facilitate the in vivo assessment of human cell-directed therapies for Fabry disease. This pure line was generated after 11 generations of backcrosses and was found, as expected, to have a reduced immune compartment and background α-gal A activity. Next, we transplanted normal human CD34(+) cells transduced with a control (lentiviral vector-enhanced green fluorescent protein (LV-eGFP)) or a therapeutic bicistronic LV (LV-α-gal A/internal ribosome entry site (IRES)/hCD25). While both experimental groups showed similar engraftment levels, only the therapeutic group displayed a significant increase in plasma α-gal A activity. Gb(3) quantification at 12 weeks revealed metabolic correction in the spleen, lung, and liver for both groups. Importantly, only in the therapeutically-transduced cohort was a significant Gb(3) reduction found in the heart and kidney, key target organs for the amelioration of Fabry disease in humans. PMID:22472949

  3. Dosimetric Comparison of Involved-Field Three-Dimensional Conformal Photon Radiotherapy and Breast-Sparing Proton Therapy for the Treatment of Hodgkin's Lymphoma in Female Pediatric Patients

    SciTech Connect

    Andolino, David L.; Hoene, Ted; Xiao, Lu; Buchsbaum, Jeffrey; Chang, Andrew L.

    2011-11-15

    Purpose: To assess the potential reduction in breast dose for young girls with Hodgkin's lymphoma (HL) treated with breast-sparing proton therapy (BS-PT) as compared with three-dimensional conformal involved-field photon radiotherapy (3D-CRT). Methods and Materials: The Clarian Health Cancer Registry was queried for female pediatric patients with the diagnosis of HL who received radiotherapy at the Indiana University Simon Cancer Center during 2006-2009. The original CT simulation images were obtained, and 3D-CRT and BS-PT plans delivering 21 Gy or cobalt gray equivalent (CGE) in 14 fractions were created for each patient. Dose-volume histogram data were collected for both 3D-CRT and BS-PT plans and compared by paired t test for correlated samples. Results: The cancer registry provided 10 female patients with Ann Arbor Stage II HL, aged 10-18 years at the time of treatment. Both mean and maximum breast dose were significantly less with BS-PT compared with 3D-CRT: 0.95 CGE vs. 4.70 Gy (p < 0.001) and 21.07 CGE vs. 23.11 Gy (p < 0.001), respectively. The volume of breast receiving 1.0 Gy/CGE and 5.0 Gy/CGE was also significantly less with BS-PT, 194 cm{sup 3} and 93 cm{sup 3}, respectively, compared with 790 cm{sup 3} and 360 cm{sup 3} with 3D-CRT (p = 0.009, 0.013). Conclusion: Breast-sparing proton therapy has the potential to reduce unnecessary breast dose in young girls with HL by as much as 80% relative to involved-field 3D-CRT.

  4. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

    PubMed Central

    2010-01-01

    Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II heterozygotes are asymptomatic in most instances, in Fabry disease most of female carriers show some disease manifestation, which is sometimes severe. It is known that there is a major difference among X-linked diseases depending on the cell autonomy of the gene product involved and, therefore, on the occurrence of cross-correction. Since lysosomal enzymes are usually secreted and uptaken by neighbor cells, the different findings between MPS II and Fabry disease heterozygotes can also be due to different efficiency of cross-correction (higher in MPS II and lower in Fabry disease). In this paper, we review these two X-linked LD in order to discuss the mechanisms that could explain the different rates of penetrance and expressivity observed in the heterozygotes; this could be helpful to better understand the expression of X-linked traits. PMID:20509947

  5. Emotion regulation choice in female patients with borderline personality disorder: Findings from self-reports and experimental measures.

    PubMed

    Sauer, Christina; Sheppes, Gal; Lackner, Helmut Karl; Arens, Elisabeth A; Tarrasch, Ricardo; Barnow, Sven

    2016-08-30

    Emotion dysregulation is a core feature of borderline personality disorder (BPD). So far, many studies have tested the consequences of the implementation of certain emotion regulation (ER) strategies, but there have been no investigations about ER choices in BPD. Thus, the aim of this study was to investigate habitual ER choices by self-report questionnaires and experimentally by testing the preference to select between distraction and reappraisal when facing different emotional intensities (high vs. low) and contents (borderline-specific vs. unspecific negative) in patients with BPD (n=24) compared with clinical controls (patients with major depression, n=19) and a healthy control group (n=32). Additionally, heart rate (HR) responses were continuously assessed. Main results revealed that both patient groups showed maladaptive self-reported ER choice profiles compared with HC. We found, however, no differences between the groups in the choice of distraction and reappraisal on the behavioral level and in HR responses. In BPD, within-group analyses revealed a positive correlation between symptom severity and the preference for distraction under high-intensity borderline-specific stimuli. Our findings provide preliminary evidence of ER choices in BPD and show the robustness of the choice effect in patients with affective disorders. PMID:27344452

  6. Female circumcision: obstetric issues.

    PubMed

    Baker, C A; Gilson, G J; Vill, M D; Curet, L B

    1993-12-01

    Female circumcision is a problem unfamiliar to most Western obstetrician-gynecologists. We present a case illustrative of the unique management problems posed by these patients during labor. A method of releasing the anterior vulvar scar tissue to allow vaginal delivery is described. Sensitivity and a nonjudgmental approach as to what is culturally appropriate care for these women are of paramount importance. PMID:8267074

  7. Dietary and Lifestyle Changes in the Treatment of a 23-Year-Old Female Patient With Migraine

    PubMed Central

    Martin, Brett R.; Seaman, David R.

    2015-01-01

    Objective The purpose of this case report is to describe the chiropractic management of a patient with atypical migraine headache. Clinical Features A 23-year-old woman experienced migraines for 3 months. She had no previous history of migraines and was unresponsive to pharmaceutical and musculoskeletal therapies. The migraine headaches could not be classified according to the common categories associated with migraines. She had a change in diet due to severe gastroesophageal reflux causing her to reduce or avoid consuming foods. She also had a history of smoking and alcohol consumption. Intervention and Outcome Dietary and lifestyle changes were recommended in conjunction with the administration of a multivitamin, magnesium oxide, and Ulmus rubra. Her migraine headaches improved with the resolution of her gastroesophageal reflux symptoms. Conclusion This patient with atypical migraines and a history of poor dietary and lifestyle choices improved using nutritional changes and supplementing with a multivitamin and magnesium oxide. PMID:26778934

  8. Application of (1)H NMR-based serum metabolomic studies for monitoring female patients with rheumatoid arthritis.

    PubMed

    Zabek, Adam; Swierkot, Jerzy; Malak, Anna; Zawadzka, Iga; Deja, Stanisław; Bogunia-Kubik, Katarzyna; Mlynarz, Piotr

    2016-01-01

    Rheumatoid arthritis is a chronic autoimmune-based inflammatory disease that leads to progressive joint degeneration, disability, and an increased risk of cardiovascular complications, which is the main cause of mortality in this population of patients. Although several biomarkers are routinely used in the management of rheumatoid arthritis, there is a high demand for novel biomarkers to further improve the early diagnosis of rheumatoid arthritis, stratification of patients, and the prediction of a better response to a specific therapy. In this study, the metabolomics approach was used to provide relevant biomarkers to improve diagnostic accuracy, define prognosis and predict and monitor treatment efficacy. The results indicated that twelve metabolites were important for the discrimination of healthy control and rheumatoid arthritis. Notably, valine, isoleucine, lactate, alanine, creatinine, GPC  APC and histidine relative levels were lower in rheumatoid arthritis, whereas 3-hydroxyisobutyrate, acetate, NAC, acetoacetate and acetone relative levels were higher. Simultaneously, the analysis of the concentration of metabolites in rheumatoid arthritis and 3 months after induction treatment revealed that L1, 3-hydroxyisobutyrate, lysine, L5, acetoacetate, creatine, GPC+APC, histidine and phenylalanine were elevated in RA, whereas leucine, acetate, betaine and formate were lower. Additionally, metabolomics tools were employed to discriminate between patients with different IL-17A genotypes. Metabolomics may provide relevant biomarkers to improve diagnostic accuracy, define prognosis and predict and monitor treatment efficacy in rheumatoid arthritis. PMID:26476882

  9. Recognition and management of BPPV for an elderly female patient referred for low back pain: a resident's case study.

    PubMed

    Massey, B James; Osborne, Raine; Beneciuk, Jason M; Rowe, Robert H

    2014-08-01

    Benign paroxysmal positional vertigo (BPPV) is common among older adults and frequently misdiagnosed or unidentified. Undiagnosed BPPV has been associated with depression, falls and ADL limitations. This case study describes the diagnostic process and management of BPPV for a 65-year-old patient with a primary complaint of chronic low back pain (LBP) in an outpatient orthopedic physical therapy setting. Following routine screening performed on initial evaluation, the patient was educated about examination findings that indicated the potential for BPPV and given the option to proceed with further assessment or defer until LBP was under control. The patient attended 16 visits over the course of care and the complaint of vertigo, described as a true spinning sensation, was assessed further on the visit 5. Continued assessment confirmed BPPV and the canalith repositioning procedure was administered. Following positive response to this intervention, the maneuver was re-administered on visit 6. Complete resolution of symptoms was reported on visit 7 and for the remainder of physical therapy services over the following month. Physical therapists may play a vital role in reducing healthcare expenses associated with cost to arrive at the diagnosis of BPPV, as well as improving the quality of life and safety of the older adult population affected by BPPV. PMID:24597728

  10. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

    PubMed Central

    Georgiou, Theodoros; Mavrikiou, Gavriella; Alexandrou, Angelos; Spanou-Aristidou, Elena; Savva, Isavella; Christodoulides, Theodoros; Krasia, Maria; Christophidou-Anastasiadou, Violetta; Sismani, Carolina; Drousiotou, Anthi; Tanteles, George A.

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascular systems, kidneys, and heart. Heterozygous females typically exhibit milder symptoms and a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. We report on a 17-year-old female in whom cornea verticillata was found during a routine ophthalmological examination but with no other clinical symptoms. Leucocyte α-galactosidase activity was within the overlap range between Fabry heterozygotes and normal controls. Sanger sequencing of the GLA gene failed to reveal any pathogenic variants. Multiplex Ligation-dependent Probe Amplification (MLPA) analysis revealed a deletion of exon 7. Using a long-range PCR walking approach, we managed to identify the deletion breakpoints. The deletion spans 1182 bp, with its 5′ end located within exon 6 of the GLA gene and its 3′ end located 612 bp downstream of exon 7. This finding represents a novel deletion identified in the first reported Cypriot female carrier of Fabry disease. PMID:27123349

  11. A Rare Cause of Bowel Obstruction: Peritoneal Metastases in Osteosarcoma at the Tibia in a Young Female Patient with Brain Metastasis. Case Report.

    PubMed

    Badiu, Dumitru Cristinel; Manea, Cristina Alexandra; Porojan, Vlad; Paraschiv, Marius; Mehedintu, Claudia; Coman, Ionut Simion; Grigorean, Valentin Titus

    2016-01-01

    Osteosarcomas are the most frequent primary malignant bone tumors in children and adolescents. Like brain metastases in osteosarcomas, the bowel metastases are very rare. We present the case of a 23-year-old female patient, diagnosed and operated in 2008 of osteosarcoma at the tibia, for which she had sessions of neoadjuvant and adjuvant chemotherapy, but presented lungs metastases for which she underwent surgery in 2014. Then, in March 2015, she was diagnosed with an intracranial expansive process, an osteosarcoma metastasis, for which a total ablation of the tumor was performed during the early postoperatory period, being transferred to the General Surgery Clinic for abdominal pain, abdominal distention, vomiting, and lack of intestinal transit regarding faeces and intestinal gas. Both clinically and imagistically, the diagnosis was of bowel obstruction. This was the reason for performing surgery, thus discovering a bowel obstruction secondary to a metastasis of the terminal ileum and liver metastases that were confirmed as osteosarcoma metastases from an anatomopathological and immunohistochemical point of view. The bowel metastases and the osteosarcoma brain metastases are very rare entities and, their association, most often with young patients, is exceptional. However, bowel metastases must be taken into account as a possible cause of bowel obstruction in patients with osteosarcoma. PMID:27452942

  12. Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.

    PubMed

    Mekkawy, Mona K; Mazen, Inas M; Kamel, Alaa K; Vater, Inga; Zaki, Maha S

    2016-04-01

    Many chromosomal rearrangements that lead to copy-number gains or losses have been shown to cause distinctive and recognizable clinical phenotypes. Conventional cytogenetic analysis can detect many, but not all, rearrangements depending on its power of resolution. The wide use of whole-genome array-based comparative genomic hybridization (array-CGH) techniques has allowed the detection of novel syndromes and to establish genotype-phenotype correlations by delineating at high resolution the regions involved in specific chromosomal aberrations. We report on a two and half-year-old female patient with intellectual disability and distinctive phenotypic features resulting from a de novo duplication of about 0.3 Mb in 21q22.3 associated with duplication of about 0.3 Mb in 12p13.33. The patient's chromosomal abnormalities were identified at the cytogenetic molecular level, using SNP array analysis, while GTG banding technique revealed a normal karyotype. Clinical findings of the patient were compared with Down syndrome and 12p duplication syndrome. This study suggests that an area of contiguous genes on the distal part of chromosome 21 (21q22.3) contribute to the Down syndrome phenotype and indicates that genes in the distal region of 12p (12p13.33) account for many facial characteristics and hypotonia of trisomy 12p syndrome. PMID:26749249

  13. Effects of psychotherapy in combination with pharmacotherapy, when compared to pharmacotherapy only on blood pressure, depression, and anxiety in female patients with hypertension.

    PubMed

    Ahmadpanah, Mohammad; Paghale, Somaye Jamali; Bakhtyari, Azadeh; Kaikhavani, Sattar; Aghaei, Elham; Nazaribadie, Marzieh; Holsboer-Trachsler, Edith; Brand, Serge

    2016-07-01

    We investigated effects of metacognitive detached mindfulness therapy and stress management training on hypertension and symptoms of depression and anxiety, as compared to a control condition. A total of 45 female patients (mean age: M = 36.49 years) were randomly assigned to one of three conditions: metacognitive detached mindfulness therapy, stress man