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Sample records for female fabry patients

  1. [Foam cell nephropathy in heterozygous female with Fabry's disease].

    PubMed

    Vera-Sempere, F J; García, A; Sánchez, M A; Moll, J L; Pérez, A

    2002-01-01

    We describe the clinical and pathological characteristics of a 49 year-old heterozygous female carrier of Anderson-Fabry's disease. Light microscopy and ultrastructural study of a renal biopsy showed the presence of foam cell nephropathy and galactosylceramide deposits affecting podocytes, the parietal epithelium of Bowman's capsule and the distal tubular cells, endothelial cells and medullary interstitial elements. Retrospectively, the presence of storage disease was confirmed in a hysterectomy specimen obtained two years previously. Our observation shows that heterozygotes for this disorder can not only carry and transmit the disease but may also develop pathological deposits in various organs. A renal biopsy from these carriers allows precise identification of the disease, facilitates adequate genetic counseling and gives the option of enzyme replacement therapy in patients who have pathological deposits.

  2. A comprehensive Fabry-related pain questionnaire for adult patients.

    PubMed

    Üçeyler, Nurcan; Magg, Barbara; Thomas, Phillip; Wiedmann, Silke; Heuschmann, Peter; Sommer, Claudia

    2014-11-01

    Pain may be the earliest symptom in Fabry disease and presents with a distinct phenotype including triggerable pain attacks, evoked pain, pain crises, and chronic pain. Current pain questionnaires do not reflect the special phenotype of Fabry disease-associated pain, which hampers its systematic evaluation as the basis of correct diagnosis and effective treatment. A questionnaire specifically designed to assess Fabry disease-associated pain is thus urgently needed. At the Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), Germany, we developed and validated the first face-to-face Fabry Pain Questionnaire (FPQ) for adult patients. The initial version of the FPQ was tested in a pilot study with 20 consecutive Fabry disease patients. The performance of the revised FPQ was assessed in a first (n=56) and second (n=20) validation phase in consecutive Fabry disease patients. For this, patients were interviewed at baseline and 2 weeks later. We determined the test-retest reliability and validity of the FPQ in comparison to data obtained with the Neuropathic Pain Symptom Inventory. The FPQ contains 15 questions on the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain, chronic pain) in childhood and adulthood, on pain development during life with and without enzyme replacement therapy, and on everyday life impairment due to pain. This first disease-specific questionnaire is a valuable tool for baseline and follow-up assessment of pain in Fabry disease patients and may guide treatment in this distinct pain phenotype.

  3. Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

    PubMed

    Biancini, Giovana Brondani; Jacques, Carlos Eduardo; Hammerschmidt, Tatiane; de Souza, Heryk Motta; Donida, Bruna; Deon, Marion; Vairo, Filippo Pinto; Lourenço, Charles Marques; Giugliani, Roberto; Vargas, Carmen Regla

    2016-10-01

    Fabry disease (FD) is caused by deficient activity of the lysosomal enzyme α-galactosidase A. Its substrates, mainly globotriaosylceramide (Gb3), accumulate and seem to induce other pathophysiological findings of FD. Once enzyme replacement therapy (ERT) is not completely efficient on preventing disease progress in FD patients, elucidating the underlying mechanisms in FD pathophysiology is essential to the development of additional therapeutic strategies. We investigated 58 Fabry patients (23 male and 35 female) subdivided into two groups (at diagnosis and during long-term ERT) and compared them to healthy individuals. Fabry patients at diagnosis presented altered glutathione (GSH) metabolism (higher GSH levels, lower glutathione peroxidase - GPx - and normal glutathione reductase - GR - activities), higher lipid peroxidation levels (thiobarbituric acid reactive species - TBARS - and malondialdehyde - MDA), nitric oxide (NO(.)) equivalents and urinary Gb3. Fabry patients on ERT presented GSH metabolism similar to controls, although lipid peroxidation and urinary levels of NO(.) equivalents remained higher whereas Gb3 levels were lower than at diagnosis but still higher than controls. These data demonstrated that redox impairment occurs in Fabry patients before and after ERT, probably as a consequence of Gb3 accumulation, providing targets to future therapy approaches using antioxidants in combination with ERT in FD. PMID:27458128

  4. Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

    PubMed

    Biancini, Giovana Brondani; Jacques, Carlos Eduardo; Hammerschmidt, Tatiane; de Souza, Heryk Motta; Donida, Bruna; Deon, Marion; Vairo, Filippo Pinto; Lourenço, Charles Marques; Giugliani, Roberto; Vargas, Carmen Regla

    2016-10-01

    Fabry disease (FD) is caused by deficient activity of the lysosomal enzyme α-galactosidase A. Its substrates, mainly globotriaosylceramide (Gb3), accumulate and seem to induce other pathophysiological findings of FD. Once enzyme replacement therapy (ERT) is not completely efficient on preventing disease progress in FD patients, elucidating the underlying mechanisms in FD pathophysiology is essential to the development of additional therapeutic strategies. We investigated 58 Fabry patients (23 male and 35 female) subdivided into two groups (at diagnosis and during long-term ERT) and compared them to healthy individuals. Fabry patients at diagnosis presented altered glutathione (GSH) metabolism (higher GSH levels, lower glutathione peroxidase - GPx - and normal glutathione reductase - GR - activities), higher lipid peroxidation levels (thiobarbituric acid reactive species - TBARS - and malondialdehyde - MDA), nitric oxide (NO(.)) equivalents and urinary Gb3. Fabry patients on ERT presented GSH metabolism similar to controls, although lipid peroxidation and urinary levels of NO(.) equivalents remained higher whereas Gb3 levels were lower than at diagnosis but still higher than controls. These data demonstrated that redox impairment occurs in Fabry patients before and after ERT, probably as a consequence of Gb3 accumulation, providing targets to future therapy approaches using antioxidants in combination with ERT in FD.

  5. 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.

  6. Agalsidase benefits renal histology in young patients with Fabry disease.

    PubMed

    Tøndel, Camilla; Bostad, Leif; Larsen, Kristin Kampevold; Hirth, Asle; Vikse, Bjørn Egil; Houge, Gunnar; Svarstad, Einar

    2013-01-01

    The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown. Here, we evaluated the effect of 5 years of treatment with agalsidase alfa or agalsidase beta in 12 consecutive patients age 7-33 years (median age, 16.5 years). We performed renal biopsies at baseline and after 5 years of enzyme replacement therapy; 7 patients had additional biopsies after 1 and 3 years. After a median of 65 months, biopsy findings from all patients showed total clearance of glomerular endothelial and mesangial cell inclusions, and findings from 2 patients showed complete clearance of inclusions from epithelial cells of the distal tubule. The 4 patients who received the highest dose of agalsidase exhibited substantial clearance of podocyte inclusions, and the youngest patient had nearly complete clearance of these inclusions. Linear regression analysis showed a highly significant correlation between podocyte globotriaocylceramide clearance and cumulative agalsidase dose (r=0.804; P=0.002). Microalbuminuria normalized in five patients. In summary, long-term enzyme replacement therapy in young patients can result in complete globotriaocylceramide clearance of mesangial and glomerular endothelial cells across all dosage regimens, and clearance of podocyte inclusions is dose-dependent.

  7. 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

  8. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

    PubMed Central

    2011-01-01

    Background Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortage of agalsidase beta leading to involuntary dose reductions (approved dose 1 mg/kg/eow, reduced dose 0.5 mg/kg/m), or switch to agalsidase alpha (administered dose 0.2 mg/kg/eow). An assessment report from the European Medicines Agency (EMA) raised serious concerns about an increase in adverse events at lower dosages of agalsidase beta. We determined the influence of the shortage on clinical event incidence and the most sensitive biochemical marker (lysoGb3) in Dutch Fabry patients. Methods The incidence of clinical events per person per year was calculated from start of agalsidase beta treatment until the shortage, and was compared to the incidence of clinical events during the shortage period. In addition, plasma lysoGb3, eGFR, quality of life (SF-36) and brief pain inventory (BPI) questionnaires were analysed. Results All thirty-five Dutch Fabry patients using agalsidase beta (17 males) were included. Mean clinical event incidence was unchanged: 0.15 events per person per year before versus 0.15 during the shortage (p = 0.68). In total 28 clinical events occurred in 14 patients during 4.6 treatment years, compared to 7 events in 6 patients during the 1.3 year shortage period. eGFR and BPI scores were not significantly altered. Two SF-36 subscales were significantly but minimally reduced in females. In males, lysoGb3 increased with a median of 8.1 nM (range 2.5 - 29.2) after 1 year of shortage (p = 0.001). Increases in lysoGb3 were found in both patients switching to agalsidase alpha and on a reduced agalsidase beta dose. Antibody status, treatment duration or clinical event incidence showed no clear correlation to lysoGb3 increases. Conclusions No increase in clinical event incidence was found in the adult Dutch Fabry cohort during the agalsidase beta shortage

  9. Social-adaptive and psychological functioning of patients affected by Fabry disease.

    PubMed

    Laney, Dawn Alyssia; Gruskin, Daniel J; Fernhoff, Paul M; Cubells, Joseph F; Ousley, Opal Y; Hipp, Heather; Mehta, Ami J

    2010-12-01

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. In addition to the debilitating physical symptoms of FD, there are also under-recognized and poorly characterized psychiatric features. As a first step toward characterizing psychiatric features of FD, we administered the Achenbach adult self report questionnaire to 30 FD patients and the Achenbach adult behavior checklist questionnaire to 28 partners/parents/friends of FD patients. Data from at least one of the questionnaires were available on 33 subjects. Analysis focused on social-adaptive functioning in various aspects of daily life and on criteria related to the Diagnostic and statistical manual of mental disorders IV (DSM-IV). Adaptive functioning scale values, which primarily measure social and relationship functioning and occupational success, showed that eight FD patients (six female and two male) had mean adaptive functioning deficits as compared to population norms. Greater rates of depression (P < 0.01), anxiety (P = 0.05), depression and anxiety (P = 0.03), antisocial personality (P < 0.001), attention-deficit/hyperactivity (AD/H; P < 0.01), hyperactivity-impulsivity (P < 0.01), and aggressive behavior (P = 0.03) were associated with poorer adaptive functioning. Decreased social-adaptive functioning in this study was not statistically significantly associated to disease severity, pain, or level of vitality. This study shows for the first time that FD patients, particularly women, are affected by decreased social-adaptive functioning. Comprehensive treatment plans for FD should consider assessments and interventions to evaluate and improve social, occupational, and psychological functioning. Attention to the behavioral aspects of FD could lead to improved treatment outcome and improved quality of life. Individuals affected by Fabry disease exhibited social-adaptive functioning deficits that were significantly correlated with anxiety

  10. 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

  11. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    PubMed

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients. PMID:27225851

  12. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    PubMed

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients.

  13. DNA damage in Fabry patients: An investigation of oxidative damage and repair.

    PubMed

    Biancini, Giovana Brondani; Moura, Dinara Jaqueline; Manini, Paula Regina; Faverzani, Jéssica Lamberty; Netto, Cristina Brinckmann Oliveira; Deon, Marion; Giugliani, Roberto; Saffi, Jenifer; Vargas, Carmen Regla

    2015-06-01

    Fabry disease (FD) is a lysosomal storage disorder associated with loss of activity of the enzyme α-galactosidase A. In addition to accumulation of α-galactosidase A substrates, other mechanisms may be involved in FD pathophysiology, such as inflammation and oxidative stress. Higher levels of oxidative damage to proteins and lipids in Fabry patients were previously reported. However, DNA damage by oxidative species in FD has not yet been studied. We investigated basal DNA damage, oxidative DNA damage, DNA repair capacity, and reactive species generation in Fabry patients and controls. To measure oxidative damage to purines and pyrimidines, the alkaline version of the comet assay was used with two endonucleases, formamidopyrimidine DNA-glycosylase (FPG) and endonuclease III (EndoIII). To evaluate DNA repair, a challenge assay with hydrogen peroxide was performed. Patients presented significantly higher levels of basal DNA damage and oxidative damage to purines. Oxidative DNA damage was induced in both DNA bases by H2O2 in patients. Fabry patients presented efficient DNA repair in both assays (with and without endonucleases) as well as significantly higher levels of oxidative species (measured by dichlorofluorescein content). Even if DNA repair be induced in Fabry patients (as a consequence of continuous exposure to oxidative species), the repair is not sufficient to reduce DNA damage to control levels. PMID:26046974

  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. 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.

  16. Fabry disease.

    PubMed

    Schiffmann, Raphael

    2015-01-01

    Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Virtually all complications of Fabry disease are non-specific in nature and clinically indistinguishable from similar abnormalities that occur in the context of more common disorders in the general population. Recent studies suggested a much higher incidence of mutations of the GLA gene, suggesting that this disorder is under-diagnosed. However, some of the gene variants may be benign. Although the etiology of Fabry disease has been known for many years, the mechanism by which the accumulating α-D-galactosyl moieties cause this multi organ disorder has only recently been studied and is yet to be completely elucidated. Specific therapy for Fabry disease has been developed in the last few years but its role in the management of the disorder is still being investigated. Fortunately, standard 'non-specific' medical and surgical therapy is effective in slowing deterioration or compensating for organ failure in patients with Fabry disease. PMID:26564084

  17. 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

  18. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)

    PubMed Central

    Hoffmann, B; d Garcia; Mehta, A; Beck, M; Widmer, U; Ricci, R; on, b

    2005-01-01

    Background: Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all tissues, including the blood vessels, kidney, myocardium, and nervous system. Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites. Aims: This study set out to evaluate pain and its influence on quality of life in patients with Fabry disease receiving enzyme replacement therapy (ERT) with agalsidase alfa. Methods: Data were obtained from the Fabry Outcome Survey. Pain was measured using the Brief Pain Inventory (BPI), and health-related quality of life (HRQoL) was documented with the European Quality of Life Questionnaire (EQ-5D). Results: The mean (SD) score for "pain at its worst" on the BPI prior to ERT was 5.1 (2.7). One year after commencement of ERT, this had improved by 0.5, and improved by a further 0.6 after 2 years (p<0.05). Similar statistically significant improvements were seen for "pain on average" and "pain now" after 2 years of ERT. The mean HRQoL utility score prior to ERT was 0.66 (0.32). After 12 months of treatment with agalsidase alfa, this had improved to 0.74 (0.26; p<0.05); this improvement was maintained after 2 years. Conclusions: ERT with agalsidase alfa significantly reduces pain and improves quality of life in patients with Fabry disease. PMID:15744039

  19. 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

  20. Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?

    PubMed

    Politei, J; Schenone, A B; Cabrera, G; Heguilen, R; Szlago, M

    2016-01-01

    We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular functioning. Pain scale showed improvement in all male cases treated with agalsidasa beta. A mild improvement was detected in agalsidasa alfa-treated patients after 1 year with posterior increase. During the agalsidase beta shortage, two male patients were switched to agalsidasa alfa, after 1 year both cases presented an increase in scale values. Renal evolution showed a tendency toward a decrease in proteinuria in patients using agalsidase beta and worsening with agalsidase alfa. We found improvement in two females using agalsidase beta and no changes in the other cases regarding cardiac functioning. Brain magnetic resonance imaging (MRI) showed increase of white matter lesions in four patients. Improvement and stabilization in neuropathic pain, renal and cardiac functioning and brain MRI were found mainly in patients treated with agalsidase beta. Following the reported recommendations on reintroduction of agalsidase beta after the enzyme shortage, we decided to switch all patients to agalsidase beta.

  1. 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

  2. Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients

    PubMed Central

    Müller, Karen B.; Galdieri, Luciano C.; Pereira, Vanessa G.; Martins, Ana M.; D’Almeida, Vânia

    2012-01-01

    Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, but the mechanisms by which it produces cardiovascular damage are still poorly understood. Regarding the vascular involvement in FD patients, the analysis of factors related to thromboembolic events could be useful to improving our understanding of the disease. The aim of this study was to evaluate plasma Hcy and other parameters involved in the methionine cycle, as well as oxidative stress markers. The sample consisted of a group of 10 male FD patients and a control group of 8 healthy individuals, paired by age. Venous blood was collected for Hcy determination, molecular analysis, identification of thiobarbituric acid reactive substances, total glutathione and antioxidant enzymes activity, as well as vitamins quantification. Comparative analysis of FD patients versus the control group indicated hyperhomocysteinemia in 8 of the 10 FD patients, as well as a significant increase in overall glutathione levels and catalase activity. It is inferred that FD patients, apart from activation of the antioxidant system, present increased levels of plasma Hcy, although this is probably unrelated to common alterations in the methionine cycle. PMID:22888289

  3. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

    PubMed Central

    Redonnet-Vernhet, I; Ploos van Amstel, J K; Jansen, R P; Wevers, R A; Salvayre, R; Levade, T

    1996-01-01

    We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A. While one of the twins was clinically affected, the other was asymptomatic. Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation. The son of the unaffected twin sister was shown to be hemizygous. Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231. Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents. The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status. Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions. While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew. These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair. This is the first documented case of female twins discordant for Fabry disease. Images PMID:8863162

  4. 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

  5. Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.

    PubMed

    Uçeyler, 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.

  6. Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry's disease.

    PubMed

    Hirashio, S; Taguchi, T; Naito, T; Maki, K; Ogata, S; Taniyama, K; Taniguchi, Y; Yorioka, N

    2009-05-01

    A 38-year-old man underwent renal biopsy because of proteinuria. It revealed swelling and vacuolation of glomerular epithelial cells, as well as myelin-like structures characteristic of Fabry's disease. Detection of decreased plasma activity of alpha-galactosidase A confirmed the diagnosis. Enzyme replacement therapy was provided with recombinant agalsidase-beta, resulting in improvement of his symptoms. When renal biopsy was repeated, specific staining for globotriaosylceramide showed that renal deposits were decreased by enzyme therapy.

  7. The management and treatment of children with Fabry disease: A United States-based perspective.

    PubMed

    Hopkin, Robert J; Jefferies, John L; Laney, Dawn A; Lawson, Victoria H; Mauer, Michael; Taylor, Matthew R; Wilcox, William R

    2016-02-01

    Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease. The presence of symptoms in boys and girls of any age is an indication to begin therapy. Early treatment before the onset of potentially irreversible vital organ pathology is ideal. Asymptomatic children with Fabry mutations should be followed closely for the development of renal, cardiac, neurological, or gastrointestinal signs, symptoms, or laboratory changes, which would warrant treatment initiation. A comprehensive care plan should be implemented by the treating physicians to guide the management of children with Fabry disease. PMID:26546059

  8. 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

  9. 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.

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

    PubMed

    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

  11. 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

  12. 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

  13. 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

  14. 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

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

    PubMed

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

    2007-09-01

    Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular mechanism underlying alpha-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 K(m) and V(max) values. The degradation of all mutants (except E59K) was partially inhibited by treatment with kifunensine, a selective inhibitor of ER (endoplasmic reticulum) alpha-mannosidase I. Metabolic labelling and subcellular fractionation studies in COS-7 cells expressing the L166V and R301Q alpha-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 alpha-Gal A cDNAs effectively increased both enzyme activity and protein yield. DGJ was capable of normalizing intracellular processing of mutant alpha-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.

  16. 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

  17. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

    PubMed

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-10-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients. PMID:27679722

  18. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease

    PubMed Central

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-01-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R2 = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients. PMID:27679722

  19. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

    PubMed

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-10-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients.

  20. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease

    PubMed Central

    Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco

    2016-01-01

    Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R2 = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients.

  1. Malignant syphilis in an immunocompetent female patient*

    PubMed Central

    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

  2. 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

  3. 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

  4. 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

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

    PubMed

    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

  6. Caring for the elderly female psychiatric patient.

    PubMed

    Bashir, Mudhasir; Holroyd, Suzanne

    2010-06-01

    With the growth of the elderly population, and the female elderly population in particular, healthcare providers will see increasing numbers of elderly women with psychiatric disorders. To properly care for this group of patients, better understanding is needed not only of group differences in this patient population but also of the differences in each individual, as they age, given their unique life experiences, cohort effects, medical comorbidity, social situation, and personality traits. Understandably, these characteristics will interact with psychiatric disorders in ways that may increase the challenge to correctly diagnose and treat these patients. In addition, understanding late life changes, the prevalence of various mental disorders and the sometimes unique presentation of mental disorders in this age group is required to better diagnose and treat this population.

  7. 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

  8. Understanding Fertility in Young Female Cancer Patients

    PubMed Central

    Waimey, Kate E.; Smith, Brigid M.; Confino, Rafael; Jeruss, Jacqueline S.

    2015-01-01

    Abstract Young women diagnosed with cancer today have a greater chance of long-term survival than ever before. Successful survivorship for this group of patients includes maintaining a high quality of life after a cancer diagnosis and treatment; however, lifesaving treatments such as chemotherapy, radiation, and surgery can impact survivors by impairing reproductive and endocrine health. Studies demonstrate that future fertility is a concern for many women diagnosed with cancer, but physician knowledge and attitudinal barriers can still prevent females from receiving care. Today, fertility preservation is an option for girls and women facing a cancer diagnosis, and emerging research is providing clinicians with an increasing number of reproductive and hormonal management tools. Physicians can play an important role in fertility by working closely with oncologists, providing patients with information about fertility preservation options prior to the start of cancer treatment, monitoring reproductive capacity after treatment, and working with cancer survivors to explore potential avenues to parenthood. PMID:26075731

  9. 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

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

    PubMed

    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 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

  12. Managing the female patient with hereditary angioedema.

    PubMed

    Banerji, Aleena; Riedl, Marc

    2016-06-01

    Hereditary angioedema (HAE) is a rare disorder resulting from decreased functional levels of C1-inhibitor (C1-INH), which manifests as periodic episodes of localized edema which can be extremely painful, debilitating and even fatal if the swelling affects the larynx. HAE can complicate many aspects of obstetric/gynecologic care, and an awareness of the disease is critical for clinicians involved in the care of women because of potential HAE-related complications pertaining to pregnancy, labor and delivery, and other women's health issues. This article provides a review of published literature specific to HAE and its management in female patients, including important concerns regarding obstetric/gynecologic care. A growing body of relevant experience is presented to help guide the care of women with HAE.

  13. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.

    PubMed

    Beck, Michael; Hughes, Derralynn; Kampmann, Christoph; Larroque, Sylvain; Mehta, Atul; Pintos-Morell, Guillem; Ramaswami, Uma; West, Michael; Wijatyk, Anna; Giugliani, Roberto

    2015-06-01

    Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. Data were extracted from FOS, a Shire-sponsored database, for comparison with data from three published studies. Outcomes evaluated were the annualized rate of change in estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) as well as time to and ages at a composite morbidity endpoint and at death. FOS data were extracted for 740 treated patients who were followed for a median of ~ 5 years. Compared with no treatment, patients treated with agalsidase alfa demonstrated slower decline in renal function and slower progression of left ventricular hypertrophy. Treated male patients with baseline eGFR < 60 mL/min/1.73 m(2) had a mean (standard error of the mean [SEM]) annualized change in eGFR of - 2.86 (0.53) mL/min/1.73 m(2)/y compared with - 6.8 (1.5) in the published untreated cohort. The mean (SEM) rate of LVMI increase with treatment was 0.33 (0.10) g/m(2.7)/y in males and 0.48 (0.09) in females, compared with 4.07 (1.03) in untreated males and 2.31 (0.81) in untreated females. Morbidity occurred later in treated patients, with ~ 16% risk of a composite morbidity event (26% in males) after 24 months with ERT versus ~ 45% without treatment, with first events and deaths also occurring at older ages in patients administered ERT (e.g., estimated median survival in treated males was 77.5 years versus 60 years in untreated males). Findings from these retrospective comparisons of observational data and published literature support the long-term benefits of ERT with agalsidase alfa for Fabry disease in slowing the progression of renal impairment and cardiomyopathy. Treatment also appeared to delay the onset of morbidity and mortality. Interpretation of these findings should take

  14. 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.

  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. The Renal History of Fabry Disease.

    PubMed

    Gaggl, Martina; El-Hadi, Sarah; Aigner, Christof; Sunder-Plassmann, Gere

    2016-02-01

    In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia revealed sclerosis of glomeruli. At this time the presence of a thesaurismosis was also considered. The first renal needle biopsy in 1958 showed vacuolation and distension of the cells of the glomerular tufts and distal tubules suggestive of a storage disorder. The ability to concentrate the urine was also impaired in these patients. Sweely und Klionsky in 1963 demonstrated that the major storage component is a trihexoside. As of 1967 Roscoe Brady finally described the deficiency of the enzyme ceramidetrihexosidase/-galactosidase A characteristic in patients with Fabry disease. PMID:26913882

  17. Preselective gene therapy for Fabry disease

    PubMed Central

    Qin, Gangjian; Takenaka, Toshihiro; Telsch, Kimberly; Kelley, Leslie; Howard, Tazuko; Levade, Thierry; Deans, Robert; Howard, Bruce H.; Malech, Harry L.; Brady, Roscoe O.; Medin, Jeffrey A.

    2001-01-01

    Fabry disease is a lipid storage disorder resulting from mutations in the gene encoding the enzyme α-galactosidase A (α-gal A; EC 3.2.1.22). We previously have demonstrated long-term α-gal A enzyme correction and lipid reduction mediated by therapeutic ex vivo transduction and transplantation of hematopoietic cells in a mouse model of Fabry disease. We now report marked improvement in the efficiency of this gene-therapy approach. For this study we used a novel bicistronic retroviral vector that engineers expression of both the therapeutic α-gal A gene and the human IL-2Rα chain (huCD25) gene as a selectable marker. Coexpression of huCD25 allowed selective immunoenrichment (preselection) of a variety of transduced human and murine cells, resulting in enhanced intracellular and secreted α-gal A enzyme activities. Of particular significance for clinical applicability, mobilized CD34+ peripheral blood hematopoietic stem/progenitor cells from Fabry patients have low-background huCD25 expression and could be enriched effectively after ex vivo transduction, resulting in increased α-gal A activity. We evaluated effects of preselection in the mouse model of Fabry disease. Preselection of transduced Fabry mouse bone marrow cells elevated the level of multilineage gene-corrected hematopoietic cells in the circulation of transplanted animals and improved in vivo enzymatic activity levels in plasma and organs for more than 6 months after both primary and secondary transplantation. These studies demonstrate the potential of using a huCD25-based preselection strategy to enhance the clinical utility of ex vivo hematopoietic stem/progenitor cell gene therapy of Fabry disease and other disorders. PMID:11248095

  18. A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease

    PubMed Central

    Chang, Youn Hyuk

    2013-01-01

    We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperatively the patient recovered favorably without any neurological deficit. During her admission, the patient had a sign of proteinuria in urine analysis. The pathologic findings of kidney needle biopsy implied nephrosialidosis (mucolipidosis of lysosomal stroage disease), which is consistent with a Fabry's disease. It is uncommon that Fabry's disease is presented with aneurysmal SAH, especially in middle-aged patients, but could be a clinical concern. Further investigations are needed to reveal risk factors, vascular anatomy, and causative mechanisms of Fabry's disease with aneurysmal SAH. PMID:23634271

  19. Cardiac device implantation in Fabry disease

    PubMed Central

    Sené, Thomas; Lidove, Olivier; Sebbah, Joel; Darondel, Jean-Marc; Picard, Hervé; Aaron, Laurent; Fain, Olivier; Zenone, Thierry; Joly, Dominique; Charron, Philippe; Ziza, Jean-Marc

    2016-01-01

    Abstract The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD. Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy. Six patients (4M/2F) required a pacemaker (PM) for sinus node dysfunction (n = 4) or atrioventricular disease (n = 2). One female patient required an internal cardioverter-defibrillator (ICD) to prevent sudden cardiac death because of nonsustained ventricular tachycardia (nSVT). One female patient required PM-ICD for sinus node dysfunction and nSVT. One patient underwent CD implantation before the diagnosis of FD. The annual rate of CD implantation was estimated at 1.90 per 100 person years. On univariate analysis at the end of the follow-up period, the factors associated with ACAs requiring CD implantation were as follows: delayed diagnosis of FD, delayed initiation of enzyme replacement therapy, age at the last follow-up visit, and severe multiorgan phenotype (hypertrophic cardiomyopathy, chronic kidney disease, and/or sensorineural hearing loss). On multivariate analysis, age at diagnosis of FD and age at the last follow-up visit were independently associated with an increased risk of ACAs requiring CD (P < 0.05). Considering the high frequency of ACAs requiring CD implantation and the risk of sudden death in patients with FD, regular monitoring is mandatory, especially in patients with a late diagnosis of FD and/or with a severe phenotype. Regular Holter ECGs, therapeutic education of patients, and deliverance of an emergency card including a phenotype

  20. 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. PMID:26873218

  1. 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.

  2. 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.

  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. Renal involvement in Fabry disease.

    PubMed

    Abensur, Hugo; Reis, Marlene Antônia Dos

    2016-06-01

    Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders and renal involvement. Renal involvement occurs due to Gb3 accumulation in all types of renal cells. Therefore, patients may present glomerular and tubular function disorders. Podocytes are particularly affected, with pedicels effacement and development of proteinuria. The diagnosis is made by detection of reduced plasma or leukocyte α-galactosidase activity and genetic study for detecting the α-galactosidase gene mutation. Treatment with enzyme replacement contributes to delay the progression of kidney disease, especially if initiated early. PMID:27438980

  5. Primary mediastinal choriocarcinoma with brain metastasis in a female patient.

    PubMed

    Kuno, I; Matsumoto, Y; Kasai, M; Fukuda, T; Hashiguchi, Y; Ichimura, T; Yasui, T; Sumi, T

    2016-01-01

    Nongestational choriocarcinoma is very rare and carries a poor prognosis in female patients. In this report, the authors present a case of nongestational choriocarcinoma with brain metastasis in a female. A 58-year-old female with intermittent back pain was referred to a private hospital. On examination, a mediastinal tumor and a pancreatic tumor were detected. Endoscopic ultrasound-guided fine needle aspiration biopsy of the tumor was performed for histological evaluation. Pathological diagnosis was difficult because only a small amount of tissue was collected. Head MRI showed multiple metastatic tumors in the brain. The patient was diagnosed with primary mediastinal choriocarcinoma with brain metastasis. She was treated with one course of an etoposide, methotrexate, dactinomycin, cyclophosphamide, and vincristine regimen, but her general condition gradually deteriorated, and she died on day 41. Nongestational choriocarcinoma is drug resistant, whereas gestational choriocarcinoma has better chemotherapeutic sensitivity. PMID:27172760

  6. 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

  7. Multiple parapelvic cysts in Fabry disease.

    PubMed

    Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia

    2016-01-01

    Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis. PMID:27061865

  8. Multiple parapelvic cysts in Fabry disease.

    PubMed

    Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia

    2016-01-01

    Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.

  9. Positron emission tomography in female patients with borderline personality disorder.

    PubMed

    Juengling, F D; Schmahl, C; Hesslinger, B; Ebert, D; Bremner, J D; Gostomzyk, J; Bohus, M; Lieb, K

    2003-01-01

    The pathology of Borderline personality disorder (BPD) is poorly understood and its biological basis remains largely unknown. One functional brain imaging study using [(18)F]Deoxyglucose-PET previously reported frontal and prefrontal hypometabolism. We studied brain metabolism at baseline in 12 medication-free female patients with BPD without current substance abuse or depression and 12 healthy female controls by [(18)F]Deoxyglucose-PET and statistical parametric mapping. We found significant frontal and prefrontal hypermetabolism in patients with BPD relative to controls as well as significant hypometabolism in the hippocampus and cuneus. This study demonstrated limbic and prefrontal dysfunction under resting conditions in patients with BPD by FDG-PET. Dysfunction in this network of brain regions, which has been implicated in the regulation of emotion, may underlie symptoms of BPD.

  10. Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

    PubMed Central

    2012-01-01

    Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. Case presentation We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described. Conclusions Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making. PMID:22507244

  11. 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.

  12. 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

  13. Holographic Fabry-Perot spectrometer.

    PubMed

    Martínez-Matos, O; Rodrigo, José A; Vaveliuk, P; Calvo, M L

    2011-02-15

    We propose a spectrum analyzer based on the properties of a hologram recorded with the field transmitted by a Fabry-Perot etalon. The spectral response of this holographic Fabry-Perot spectrometer (HFPS) is analytically investigated in the paraxial approximation and compared with a conventional Fabry-Perot etalon of similar characteristics. We demonstrate that the resolving power is twice increased and the free spectral range (FSR) is reduced to one-half. The proposed spectrometer could improve the operational performance of the etalon because it can exhibit high efficiency and it would be insensible to environmental conditions such as temperature and vibrations. Our analysis also extends to another variant of the HFPS based on holographic multiplexing of the transmitted field of a Fabry-Perot etalon. This device increases the FSR, keeping the same HFPS performance.

  14. 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, ...

  15. [Liver failure in a 27 years old female patient].

    PubMed

    Gertsch, T; Pfammatter, T; Braun, M; Hechelhammer, L; Meyenberger, C; Semela, D; Sawatzki, M

    2012-08-01

    We report about a 27-years old female patient with acute liver failure due to an acute Budd Chiari Syndrom (thrombosis of all three liver veins an vena cava inferior) with caval web, birth control pills and after long distance flight. After successfull aspiration of the caval thrombus and dilatation of caval web liver transplantation could be bypassed. Two weeks after intervention the patient was in a good healthy condition with normal laboratory values, normal liver size, normal perfusion of the V. cava inferior and signs of reperfusion of the middle liver vein. PMID:22878949

  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. The older female patient with a complex chronic dissociative disorder.

    PubMed

    Kluft, Richard P

    2007-01-01

    Dissociative disorders are rarely considered in the diagnostic assessment of older women, despite the fact that the existence, appearance and characteristics of certain dissociative disorders in older populations has been known and described since the 1980s. This communication reviews the core phenomena of Dissociative Identity Disorder and related forms of Dissociative Disorder Not Otherwise Specified, the natural history of their phenomena from youth to old age, and describes common presentations of Dissociative Disorders in older women. It also reviews the treatment of complex chronic dissociative disorders and discusses alternative approaches to their psychotherapy in the older female patient. It is crucial to recognize and respect the importance of appreciating individual differences among older dissociative patients and to individualize their treatments accordingly.

  18. Preliminary Fabry Perot testing - 1986

    SciTech Connect

    Benner, D.E.

    1987-04-30

    Fabry Perot interferometry is a method of determining instantaneous velocities of an object in motion. The interferometer system is composed of the Fabry Perot interferometer, a laser, an electronic streak camera, and several focusing lenses. The first tests discussed were done on exploding bridgewire devices. During these tests, several system parameters were changed. These changes did not seem to affect the data, which appeared to be consistent. The second tests performed focused on slapper-type devices. It was determined that sandblasted, vapor-deposited aluminum on the slapper material would be required to yield quality data. Streak camera failure prevented much data from being collected. An effort is being made to replace the current streak camera. After it is replaced, a Fabry Perot and velocity interferometry system for any reflector comparison will be made. The results will be published as the conclusion to this report.

  19. Preliminary Fabry Perot testing - 1986

    NASA Astrophysics Data System (ADS)

    Benner, D. E.

    1987-04-01

    Fabry Perot interferometry is a method of determining instantaneous velocities of an object in motion. The interferometer system is composed of the Fabry Perot interferometer, a laser, an electronic streak camera, and several focusing lenses. The first tests discussed were done on exploding bridgewire devices. During these tests, several system parameters were changed. These changes did not seem to affect the data, which appeared to be consistent. The second tests performed focused on slapper-type devices. It was determined that sandblasted, vapor-deposited aluminum on the slapper material would be required to yield quality data. Streak camera failure prevented much data from being collected. An effort is being made to replace the current streak camera. After it is replaced, a Fabry Perot and velocity interferometry system for any reflector comparison will be made. The results will be published as the conclusion to this report.

  20. 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

  1. High Variability of Fabry Disease Manifestations in an Extended Italian Family

    PubMed Central

    Cammarata, Giuseppe; Fatuzzo, Pasquale; Rodolico, Margherita Stefania; Colomba, Paolo; Sicurella, Luigi; Iemolo, Francesco; Zizzo, Carmela; Bartolotta, Caterina; Duro, Giovanni

    2015-01-01

    Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease. PMID:25977923

  2. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

    PubMed Central

    2013-01-01

    Background Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear. Methods Renal, cardiac, and cerebral outcomes were prospectively studied in males and females with Fabry disease treated with ERT. Additionally, the occurrence of major cardiac events, stroke, end-stage renal disease and death was compared to a natural history (NH) cohort meeting treatment criteria. Results Of 75 patients on ERT (median treatment duration 5.2 years, range 0.05-11.0), prospective follow-up was available for 57 adult patients (30 males) and 6 adolescents. Renal function declined in males (-3.4 ml/min/1.73 m2 per year, SE 0.2; p < 0.001) despite ERT, but followed the normal course in females (-0.8 ml/min/1.73 m2 per year, SE 0.3; p = 0.001). Cardiac mass increased during ERT in males (+ 1.2 gram/m2.7, SE 0.3; p < 0.001), but remained stable in females (-0.3 gram/m2.7 per year, SE 0.4; p = 0.52). ERT did not prevent the occurrence of cerebral white matter lesions. Comparison of ERT treated to untreated patients revealed that the odds to develop a first complication increased with age (OR 1.05 (95% CI: 1.0-1.1) per year, p = 0.012). For development of a first or second complication the odds declined with longer treatment duration (OR 0.81 (95% CI: 0.68-0.96) per year of ERT, p = 0.015;OR 0.52 (0.31-0.88), p = 0.014 respectively). Conclusions Long term ERT does not prevent disease progression, but the risk of developing a first or second complication declines with increasing treatment duration. ERT in advanced Fabry disease seems of doubtful benefit. PMID:23531228

  3. Epilepsy, sex hormones and antiepileptic drugs in female patients.

    PubMed

    Verrotti, Alberto; D'Egidio, Claudia; Coppola, Giangennaro; Parisi, Pasquale; Chiarelli, Francesco

    2009-12-01

    Women with epilepsy have a higher incidence of reproductive endocrine disorders than the general female population. These alterations include polycystic ovary syndrome, hyperandrogenemia, infertility, hypothalamic amenorrhea and hyperprolactinemia. Reproductive dysfunction is attributed both to epilepsy itself and to antiepileptic drugs (AEDs). Focal epileptic discharges from the temporal lobe may have a direct influence on the function of the hypothalamic-pituitary axis, thus altering the release of sex steroid hormones, including the production of luteinizing hormone, follicle-stimulating hormone, gonadotropin-releasing hormone and prolactin. AEDs may modulate hormone release from the hypothalamic-pituitary-gonadal axis and they may alter the metabolism of sex hormones and their binding proteins. Hepatic enzyme-inducing AEDs, such as carbamazepine and phenytoin, may be most clearly linked to altered metabolism of sex steroid hormones, but valproic acid, an enzyme inhibitor, has also been associated with a frequent occurrence of polycystic ovary syndrome and hyperandrogenism in women with epilepsy. Therefore, treatment of epilepsy and selection of AEDs are important for reproductive health in female patients. The aim of the present review is to critically evaluate the recently published data concerning the interactions between sex hormones, epilepsy and AEDs.

  4. 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

  5. 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.

  6. 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.

  7. 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

  8. Pulmonary Kaposi's sarcoma in a female patient: Case report.

    PubMed

    Petribu, Natacha Calheiros de Lima; Cisneiros, Mayana Silva; Carvalho, Glauber Barbosa de; Baptista, Lucyana de Melo

    2016-01-01

    Kaposi's sarcoma (KS) is a multicentric lymphoproliferative malignancy. Most of the time this tumor is confined to the skin and subcutaneous tissue, but it can present with widespread visceral involvement, such as in the lung. Pulmonary KS is the most frequent form in young adult males, in a ratio of 15:1. The disease usually affects individuals with low CD4 lymphocyte counts (<150-200 cells/mm3). We report a case of a female patient aged 35 years, with the presence of skin lesions, self-limiting episodes of diarrhea and weight loss of 15 kg for nearly 9 months, progressing to persistent fever. AIDS was diagnosed and biopsy of the lesions revealed Kaposi's sarcoma. Computed tomography of the chest showed peribronchovascular thickening, areas of ground glass opacity, condensations with air bronchograms surrounded by ground glass opacity (halo sign) and bilateral pleural effusion. The diagnosis of pulmonary KS is still a challenge, especially due to the occurrence of other opportunistic diseases that may also occur concurrently. Therefore, suspecting this diagnosis based on clinical and laboratory manifestations, and even more with CT findings, is fundamental, especially in patients who already have the cutaneous form of the disease. PMID:27656847

  9. 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

  10. 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

  11. [Gaucher's and Fabry's diseases: biochemical and genetic aspects].

    PubMed

    Caillaud, Catherine; Poenaru, Livia

    2002-01-01

    Gaucher and Fabry's diseases are lysosomal storage disorders. They are due to glucocerebrosidase or alpha galactosidase deficiency, respectively. Gaucher disease, transmitted as an autosomal recessive trait, is frequent among Ashkenazi Jews. Cloning of the gene has allowed the characterization of few common mutations. Some of them have a prognosis value, in favour of either a non neurological form (type 1) or more severe forms (types 2 and 3). There mutations were found in 70% of the alleles, the other alleles carrying private mutations. Fabry disease is transmitted as an X-linked recessive trait. Genetic counselling in at-risk families relies on the detection of carrier females. As the alpha galactosidase gene shows various mutations, the establishment of phenotype-genotype correlations is limited. These two diseases, well defined at the biochemical and genetic level, are good models of inherited diseases for the development of specific therapies.

  12. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.

    PubMed

    Putko, Brendan N; Wen, Kevin; Thompson, Richard B; Mullen, John; Shanks, Miriam; Yogasundaram, Haran; Sergi, Consolato; Oudit, Gavin Y

    2015-03-01

    Anderson-Fabry disease (AFD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a deficiency in the enzyme α-galactosidase A (α-Gal A). Anderson-Fabry cardiomyopathy is characterized by structural, valvular, vascular and conduction abnormalities, and is now the most common cause of mortality in patients with AFD. Large-scale metabolic and genetic screening studies have revealed AFD to be prevalent in populations of diverse ethnic origins, and the variant form of AFD represents an unrecognized health burden. Anderson-Fabry disease is an X-linked disorder, and genetic testing is critical for the diagnosis of AFD in women. Echocardiography with strain imaging and cardiac magnetic resonance imaging using late enhancement and T1 mapping are important imaging tools. The current therapy for AFD is enzyme replacement therapy (ERT), which can reverse or prevent AFD progression, while gene therapy and the use of molecular chaperones represent promising novel therapies for AFD. Anderson-Fabry cardiomyopathy is an important and potentially reversible cause of heart failure that involves LVH, increased susceptibility to arrhythmias and valvular regurgitation. Genetic testing and cardiac MRI are important diagnostic tools, and AFD cardiomyopathy is treatable if ERT is introduced early.

  13. Pituitary function and morphology in Fabry disease.

    PubMed

    Maione, Luigi; Tortora, Fabio; Modica, Roberta; Ramundo, Valeria; Riccio, Eleonora; Daniele, Aurora; Belfiore, Maria Paola; Colao, Annamaria; Pisani, Antonio; Faggiano, Antongiulio

    2015-11-01

    Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate. We explored pituitary morphology and function in a cohort of FD patients through a prospectic, monocentric study at an Academic Tertiary Center. The study population included 28 FD patients and 42 sex and age-matched normal subjects. The protocol included a contrast enhancement pituitary MRI, the assessment of pituitary hormones, anti-pituitary, and anti-hypothalamus antibodies. At pituitary MRI, an empty sella was found in 11 (39%) FD patients, and in 2 (5%) controls (p < 0.001). Pituitary volume was significantly smaller in FD than in controls (p < 0.001). Determinants of pituitary volume were age and alpha-galactosidase enzyme activity. Both parameters resulted independently correlated at multivariate analysis. Pituitary function was substantially preserved in FD patients. Empty sella is a common finding in patients with FD. The major prevalence in the elderly supports the hypothesis of a progressive pituitary shrinkage overtime. Pituitary function seems not to be impaired in FD. An endocrine workup with pituitary hormone assessment should be periodically performed in FD patients, who are already at risk of cardiovascular complications.

  14. 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

  15. 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.

  16. 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

  17. 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

  18. Motivation of adult female patients seeking orthodontic treatment: an application of Q-methodology

    PubMed Central

    Tang, Xia; Cai, Jiaxin; Lin, Beibei; Yao, Linjie; Lin, Feiou

    2015-01-01

    Background Motivation is the impetus for patients to seek orthodontic treatment, affecting adherence, treatment outcomes, and satisfaction. The aim of this study was to assess the motivation of adult female patients seeking orthodontic treatment, and classify the patients according to their motivations. Methods This study used Q-methodology as the main tool. Q-samples were collected and categorized (35 items). Forty-two adult female patients were interviewed before treatment as the P-sample, and their responses were categorized into the Q-methodology grid. Participants were asked to rank-order a set of 35 statements (Q-sample) from “agree most” to “disagree most” (Q-sorting). The finished Q-grids were analyzed using PQ method 2.35. Results Four main factors were identified based on how adult female patients ranked statements: factor 1, patients who focus on their self-perception of their appearance; factor 2, patients who are concerned about the esthetics and function of their teeth; factor 3, patients who are easily influenced by others; factor 4, patients who want to improve their confidence and avoid negative thoughts caused by their teeth. The remaining patients who had other views did not match any of the above four groups. Conclusion The motivations of adult female patients seeking orthodontic treatment are complex. This study found that most adult female patients fell into one of four typical factor groups. Our findings may improve the adherence of adult female patients by developing a more ideal treatment program. PMID:25709410

  19. Endocrine disrupting chemicals (EDCs) and female cancer: Informing the patients.

    PubMed

    Rachoń, Dominik

    2015-12-01

    Breast and uterine cancer are the most frequent female gender related neoplasms whose growth is mostly estrogen dependent. Therefore, any EDC exhibiting estrogenic effects may increase the risk of these two malignancies. This review focuses on the potential role of EDCs with estrogenic potential on the risk of breast and uterine neoplasms but also points to the possible role of the exposure to EDCs in the pathogenesis of ovarian and cervical cancer. It also underlines the necessity of informing the public about the presence of EDCs in common consumer products, their detrimental health effects and methods of reducing the exposure risk.

  20. Reconsultation and Antimicrobial Treatment of Urinary Tract Infection in Male and Female Patients in General Practice

    PubMed Central

    Tandan, Meera; Duane, Sinead; Cormican, Martin; Murphy, Andrew W.; Vellinga, Akke

    2016-01-01

    Current antimicrobial prescribing guidelines indicate that male and female patients with urinary tract infections (UTIs) should be treated with same antimicrobials but for different durations. The aim of this study was to explore the differences in reconsultations and antimicrobial prescribing for UTI for both males and females. A total of 2557 adult suspected UTI patients participating in the Supporting the Improvement and Management of Prescribing for urinary tract infection (SIMPle) study from 30 general practices were analyzed. An antimicrobial was prescribed significantly more often to females (77%) than males (63%). Nitrofurantoin was prescribed more often for females and less often for males (58% vs. 41%), while fluoroquinolones were more often prescribed for males (11% vs. 3%). Overall, reconsultation was 1.4 times higher in females, and if the antimicrobial prescribed was not the recommended first-line (nitrofurantoin), reconsultation after empirical prescribing was significantly higher. However, the reconsultation was similar for males and females if the antimicrobial prescribed was first-line. When a urine culture was obtained, a positive culture was the most important predictor of reconsultation (Odds ratio 1.8 (95% CI 1.3–2.5)). This suggests, when prescribing empirically, that male and female UTI patients should initially be treated with first-line antimicrobials (nitrofurantoin) with different durations (50–100 mg four times daily for three days in females and seven days for males). However, the consideration of a culture test before prescribing antimicrobials may improve outcomes. PMID:27649253

  1. Reconsultation and Antimicrobial Treatment of Urinary Tract Infection in Male and Female Patients in General Practice.

    PubMed

    Tandan, Meera; Duane, Sinead; Cormican, Martin; Murphy, Andrew W; Vellinga, Akke

    2016-01-01

    Current antimicrobial prescribing guidelines indicate that male and female patients with urinary tract infections (UTIs) should be treated with same antimicrobials but for different durations. The aim of this study was to explore the differences in reconsultations and antimicrobial prescribing for UTI for both males and females. A total of 2557 adult suspected UTI patients participating in the Supporting the Improvement and Management of Prescribing for urinary tract infection (SIMPle) study from 30 general practices were analyzed. An antimicrobial was prescribed significantly more often to females (77%) than males (63%). Nitrofurantoin was prescribed more often for females and less often for males (58% vs. 41%), while fluoroquinolones were more often prescribed for males (11% vs. 3%). Overall, reconsultation was 1.4 times higher in females, and if the antimicrobial prescribed was not the recommended first-line (nitrofurantoin), reconsultation after empirical prescribing was significantly higher. However, the reconsultation was similar for males and females if the antimicrobial prescribed was first-line. When a urine culture was obtained, a positive culture was the most important predictor of reconsultation (Odds ratio 1.8 (95% CI 1.3-2.5)). This suggests, when prescribing empirically, that male and female UTI patients should initially be treated with first-line antimicrobials (nitrofurantoin) with different durations (50-100 mg four times daily for three days in females and seven days for males). However, the consideration of a culture test before prescribing antimicrobials may improve outcomes. PMID:27649253

  2. 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

  3. 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…

  4. 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

  5. What Do Clinicians Expect?: Comparing Envisioned and Reported Violence for Male and Female Patients

    ERIC Educational Resources Information Center

    Skeem, Jennifer L.; Mulvey, Edward P.; Odgers, Candice; Schubert, Carol; Stowman, Stephanie; Gardner, William; Lidz, Charles

    2005-01-01

    Mental health professionals' (MHPs') accuracy in assessing the risk of violence in female patients is particularly limited. Based on assessments made by 205 MHPs of 605 patients in an emergency room, this study explored potential causes of MHPs' poorer accuracy in assessing women's potential for violence. The dimensions that underlie MHPs'…

  6. A fe/male transsexual patient in psychoanalysis.

    PubMed

    Quinodoz, D

    1998-02-01

    The author describes the analysis of a transsexual who had undergone a vaginoplasty as a young man and had since been living as a woman. The complexity of the psychic reality is epitomised by the analyst's difficulty in deciding whether to use masculine or feminine grammatical forms to refer to this patient. The author tells how she assumed the fantasy role of parents expecting a baby whose sex they did not yet know. She discusses at length her hesitation about accepting a transsexual patient into analysis and reports how she overcame her misgivings after analysing her own countertransference and consulting the literature. Noting that this borderline analysand resorted to both psychotic and neurotic mechanisms, the analyst decided to rely on the capacity for symbolisation and mental representation evinced in the latter. On the psychotic level, the delusional neo-reality of the appearance of a woman sought to replace the unbearable reality of being a man, whereas the neurotic part was aware that s/he could never really be a woman. The author observes that in this analysand sexualisation served to conceal a fundamental narcissistic fault. She also describes how she worked with her own madness to help the patient emerge from a situation of paradoxical fusion with the mother in madness.

  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.

  8. Comparison of clinical and serological parameters in female and male patients with systemic sclerosis

    PubMed Central

    Majdan, Maria; Dryglewska, Magdalena; Suszek, Dorota

    2016-01-01

    Objectives The course of systemic sclerosis (SSc) can differ in female and male patients. According to the literature the incidence rates of diffuse cutaneous SSc, scleroderma renal crisis and digital ulceration are higher in male patients. The aim of the study was to compare selected clinical and serological parameters in male and female patients with SSc. Material and methods The study encompassed 101 European Caucasian patients with SSc, including 23 men, hospitalized in the Department of Rheumatology. Patients fulfilled the American Rheumatism Association (ARA) classification criteria for SSc. The study groups of men and women were assessed according to the SSc subtype, incidence of internal organ involvement and presence of antinuclear antibodies considered SSc markers. Results Diffuse cutaneous (dc) SSc was observed more commonly in men than in women (13/23 vs. 25/78; p = 0.03). The time from the development of Raynaud's phenomenon to the diagnosis was significantly shorter in male compared to female patients (3.2 ±4.7 vs. 7.5 ±7.1; p = 0.01). The incidence of scleroderma renal crisis (SRC) was significantly higher (3/23 vs. 2/78; p = 0.04) and of other calcifications significantly lower in the male group compared to the female group (1/23 vs. 20/78; p = 0.02). Conclusions We concluded that the incidence of dcSSc is higher in men compared to women. The time from the development of Raynaud's phenomenon to the diagnosis is shorter in the male compare to female group. The incidence of SRC is higher, whereas that of calcifications is lower in SSc men. The serological profiles of female and male patients with SSc are comparable. PMID:27407264

  9. Differences between morning and afternoon colonoscopies for adenoma detection in female and male patients

    PubMed Central

    Singh, Shailendra; Dhawan, Manish; Chowdhry, Monica; Babich, Michael; Aoun, Elie

    2016-01-01

    Background Colonoscopies performed in the afternoon (PM) have been shown to have lower adenoma detection rates (ADR) compared to those in the morning (AM). Endoscopist fatigue has been suggested as a possible reason. Colonoscopies tend to be technically more challenging in female patients. Furthermore, women have a lower incidence of adenomas then men. The impact of the timing of colonoscopy based on sex has not been studied. We hypothesized that any decrease in ADR in PM colonoscopies would be more pronounced in female patients when compared to male patients. Methods We retrospectively reviewed colonoscopies performed for screening or surveillance in our outpatient endoscopy center from January 2008 to December 2011. Complete colonoscopies with a documented cecal intubation were included. All patients with a history of colorectal cancer or colonic resection, inadequate bowel preparation, or incomplete data were excluded. Results A total of 2305 patients (1207 female) were included. Overall, ADR was significantly higher in AM than in PM procedures. Multivariate analysis demonstrated that ADR for females was lower in PM than in AM colonoscopies (odds ratio [OR] 0.63, 95% confidence interval [CI] 0.44-0.91, P=0.015). There was a non-significant trend towards a lower ADR for males in PM (OR 0.84, 95% CI 0.62-1.15, P=0.28). Females had a prolonged intubation time and a longer procedure time. Conclusion The difference in ADR between AM and PM procedures seems to apply mainly to female patients. No significant change in ADR was noted in male patients in the afternoon. PMID:27708517

  10. 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.

  11. 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

  12. 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

  13. Fabry disease, respiratory symptoms, and airway limitation – a systematic review

    PubMed Central

    Svensson, Camilla Kara; Feldt-Rasmussen, Ulla; Backer, Vibeke

    2015-01-01

    Background Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A, resulting in accumulation of glycosphingolipids in multiple organs, primarily heart, kidneys, skin, CNS, and lungs. Materials and method A systematic literature search was performed using the PubMed database, leading to a total number of 154 hits. Due to language restriction, this number was reduced to 135; 53 papers did not concern Fabry disease, 19 were either animal studies or gene therapy studies, and 36 papers did not have lung involvement in Fabry disease as a topic. The remaining 27 articles were relevant for this review. Results The current literature concerning lung manifestations describes various respiratory symptoms such as dyspnoea or shortness of breath, wheezing, and dry cough. These symptoms are often related to cardiac involvement in Fabry disease as respiratory examinations are seldom performed. Pulmonary function tests primarily show obstructive airway limitation, but a few articles also report of patients with restrictive limitation and a mixture of both. No significant association has been found between smoking and the development of symptoms or spirometry abnormalities in patients with Fabry disease. Electron microscopy of lung biopsy and induced sputum show lamellar inclusion bodies (Zebra bodies) in the cytoplasm of cells in the airway wall. X-ray and CT scan have shown patchy ground-glass pulmonary infiltrations, fibrosis, and air trapping. Fibrosis diagnosed by high-resolution CT has not been significantly correlated with lung spirometry. Conclusion Consistent findings have not been shown in the current literature. Pulmonary function tests and registration of symptoms showed various results; however, there is a trend towards obstructive airway limitation in patients with Fabry disease. Further studies are needed to evaluate pathogenesis, progression, and the effects of treatment. PMID:26557248

  14. Combined Subpectoral Implantation of Implantable Cardioverter-Defibrillator and Augmentation Mammoplasty in a Young Female Patient

    PubMed Central

    Kim, Dong-Jun; Park, Je Wook; Youn, Jong-Chan; Lee, Dong Won; Koo, Bon-Nyeo; Lee, Moon-Hyoung

    2016-01-01

    Subcutaneous implantation of a cardiac implantable electronic device is the standard method. Occasionally, subpectoral cardiac implantable electronic device (CIED) implantation via axillary incisions is performed in young female patients for cosmetic purposes. Because subpectoral CIED implantation and augmentation mammoplasty involve the same layer, it is feasible to perform both procedures simultaneously. We report a case of combined subpectoral implantation of an implantable cardioverter-defibrillator and augmentation mammoplasty via the axillary approach in a young female patient with dilated cardiomyopathy and small breasts. PMID:27721868

  15. 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.

  16. Analysis of Fabry-Perot Velocimeter Records

    SciTech Connect

    Avara, G

    2001-08-03

    Program demonstration and user instructions are presented for FabryVB5. This computer program was created for use in analyzing Fabry-Perot interferometer records that detail the velocity time histories of fast moving surfaces. Graphical curves representing peak fringe positions and fiducial timing dots are extracted from a digitized film record or from a CCD digital image. An analysis is demonstrated on a sample velocimeter record along with some mathematical formula and routine operations. Routines used to analyze calibration records on streak camera distortions are illustrated in an appendix. This is a Microsoft Visual Basic{trademark} version for the PC.

  17. The Relationship of Sexual Abuse and HIV Risk Behaviors among Heterosexual Adult Female STD Patients.

    ERIC Educational Resources Information Center

    Thompson, Nancy J.; And Others

    1997-01-01

    This study examined the relationship of childhood sexual abuse to high-risk sexual behavior and between sexual abuse and expectations for condom use. Among 83 female clinic patients with sexually transmitted diseases, those sexually abused in childhood had more sexual partners, more positive hedonic outcome expectations for condom use, and fewer…

  18. Primary care management of the female patient presenting with nipple discharge.

    PubMed

    Morgan, Hilary S

    2015-03-12

    Nipple discharge is a common primary care finding in female patients. The nurse practitioner must possess the skills and knowledge to correctly and safely manage this clinical finding. The following is a review of the etiology of nipple discharge, the differential diagnoses, and treatment modalities.

  19. 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

  20. 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

  1. 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.

  2. Prevalence of a history of sexual abuse among female psychiatric patients in a state hospital system.

    PubMed

    Craine, L S; Henson, C E; Colliver, J A; MacLean, D G

    1988-03-01

    Fifty-one percent of a sample of 105 female state hospital patients were found to have been sexually abused as children or adolescents. In the majority of cases, hospital staff were unaware that the patients had histories of sexual abuse, and only 20 percent of the abused patients believed they had been adequately treated for sexual abuse. Sixty-six percent of the abused patients met the diagnostic criteria for posttraumatic stress disorder, although none had received that diagnosis. Compared with patients who had not been sexually abused, abused patients were significantly more likely to have 17 of 32 symptoms commonly linked with sexual abuse. Every patient who was positive for six symptoms--compulsive sexual behavior, chemical dependency, sadomasochistic sexual fantasy, sexual identity issues, chronic fatigue, and loss of interest in sex--had been sexually abused.

  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. Characteristics of and outcomes for elderly patients with acute myocardial infarction: differences between females and males

    PubMed Central

    Thang, Nguyen Dang; Karlson, Björn Wilgot; Karlsson, Thomas; Herlitz, Johan

    2016-01-01

    Objectives This study analyzed age-adjusted sex differences among acute myocardial infarction (AMI) patients aged 75 years and above with regard to 7-year mortality (primary end point) and the frequency of angiograms and admission to the coronary care unit (CCU) as well as 1-year mortality (secondary end points). Methods A retrospective cohort study comprised 1,414 AMI patients (748 females and 666 males) aged at least 75 years, who were admitted to Sahlgrenska University Hospital in Gothenburg, Sweden, during two periods (2001/2002 and 2007). All comparisons between female and male patients were age adjusted. Results Females were older and their previous history included fewer AMIs, coronary artery bypass grafting procedures, and renal diseases, but more frequent incidence of hypertension. On the contrary, males had higher age-adjusted 7-year mortality in relation to females (hazard ratio [HR] 1.16 with corresponding 95% confidence interval [95% CI 1.03, 1.31], P=0.02). Admission to the CCU was more frequent among males than females (odds ratio [OR] 1.38 [95% CI 1.11, 1.72], P=0.004). There was a nonsignificant trend toward more coronary angiographies performed among males (OR 1.34 [95% CI 1.00, 1.79], P=0.05), as well as a nonsignificant trend toward higher 1-year mortality (HR 1.18 [95% CI 0.99, 1.39], P=0.06). Conclusion In an AMI population aged 75 years and above, males had higher age-adjusted 7-year mortality and higher rate of admission to the CCU than females. One-year mortality did not differ significantly between the sexes, nor did the frequency of performed coronary angiograms. PMID:27703339

  6. Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.

    PubMed

    Ko, Younhee; Lee, CheolHo; Moon, Myeong Hee; Hong, Geu-Ru; Cheon, Chong-Kun; Lee, Jin-Sung

    2016-02-01

    Fabry disease (FD) is a rare X-linked recessive glycosphingolipid-storage disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Intravenous enzyme replacement therapy (ERT) has been used to supplement deficient enzyme activity in patients with FD. Despite its clinical effect and manifestations, clear criteria for the clinical effectiveness and cost-effectiveness of ERT have not been well established. In this study, we investigated the pharmacodynamic actions and short-term effects of ERT in patients with FD through direct molecular profiling from blood samples of patients before and after ERT. Based on this comparison, we observed that immune/inflammation-related pathways and growth factor-related pathways such as innate/adaptive immune pathway, lymphocyte proliferation and leukocyte proliferation were actively regulated under ERT. We also found that TINAGL1, DAAM2, CDK5R1 and MYO5B known to be related with clinical symptoms of FD showed increased levels after ERT, leading to the amelioration of clinical manifestations. Especially the catabolic process-related genes, including USP15 and ERUN1, showed direct increasing after ERT in vivo in male patients. These results suggest that male patients with FD respond more actively to ERT than do female patients with FD. Pathway analysis revealed that oxidative phosphorylation pathway-related genes are downregulated under ERT. ERT has a role to protect the proteins from oxidative damage and such deactivation of oxidative phosphorylation is one of direct pharmacodynamic actions of ERT. These results extended our understanding of the pathophysiology of ERT. To our knowledge, this is the first study to observe the molecular basis for the mechanism of ERT in vivo through the comprehensive comparison of transcriptome study with next-generation sequencing data. PMID:26490183

  7. Correlation between female sex and allergy was significant in patients presenting with dysphonia.

    PubMed

    Lauriello, M; Angelone, A M; Businco, L Di Rienzo; Passali, D; Bellussi, L M; Passali, F M

    2011-06-01

    Aim of the present study was to investigate the prevalence of allergy in patients affected by both organic and/or functional vocal fold disorders. The secondary aim was to assess the correlation between sex and allergy in dysphonic patients. A retrospective chart review was performed on dysphonic patients. A total of 76 patients underwent fiberoptic endoscopy to assess the objective picture. Logistic regression analyses have been conducted to assess the association between sex and the outcome variables. The laryngoscopic examination revealed the presence of poor glottic closure in 32.9%, hyperkinesias in 11.8%, redness in 11.84%, polyps in 5.3%, oedema in 3.95%, vocal fold hypertrophy in 5.3%, nodules in 42.1%, cordectomy in 2.6%. Allergic rhinitis was present in 56.6%, milk intolerance in 13.2%, asthma in 9.2%, atopic dermatitis in 3.9%, drugs intolerance in 11.8%. A total of 76.32% patients presenting with dysphonia were allergic. A statistically significant association was found between female sex and presence of allergy. In conclusion, allergy testing should be performed routinely on female professional voice users. Mild respiratory disorders must be taken into serious consideration in female professional voice users, who may primarily complain of vocal dysfunction rather than upper and lower respiratory diseases.

  8. [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

  9. 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

  10. [Clinical case report of a female patient with type IV takayasu arteritis].

    PubMed

    Suiumov, A S

    2016-01-01

    Described in the article is a case report concerning a female patient presenting with aortic valve insufficiency, lesions of the pulmonary artery, aortic arch branches, visceral and renal arteries, aneurysm of the whole aorta on the background of nonspecific aortoarteritis (NAA). Lesions of the pulmonary artery, aorta and its branches were diagnosed by means of MSCT angiography, which is the most informative method of study in this cohort of patients, making it possible to accurately diagnose both the degree of the lesion and its extent, as well as to carry out dynamic follow up of patients. PMID:27626265

  11. De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.

    PubMed

    Hara, Munetsugu; Ohba, Chihiro; Yamashita, Yushiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Matsuishi, Toyojiro

    2015-07-01

    Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Females with the MECP2 mutations exhibit a broad spectrum of clinical manifestations ranging from classical Rett syndrome to asymptomatic carriers. Mutations of genes encoding cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FOXG1) are also found in early onset RTT variants. Here, we present the first report of a female patient with RTT-like phenotype caused by SHANK3 (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of SHANK3 mutations may extend to RTT-like phenotype in addition to (severe) developmental delay, absence of expressive speech, autistic behaviors and intellectual disability.

  12. Association between estrogen receptor polymorphism and pain susceptibility in female temporomandibular joint osteoarthritis patients.

    PubMed

    Kang, S-C; Lee, D-G; Choi, J-H; Kim, S T; Kim, Y-K; Ahn, H-J

    2007-05-01

    The purpose of this study was to investigate the possible association between estrogen receptor alpha (ERalpha) polymorphism and pain susceptibility in female symptomatic temporomandibular joint (TMJ) osteoarthritis (OA) patients. A patient group of 100 women, diagnosed as TMJ OA according to the research diagnostic criteria for temporomandibular disorders, were selected, and 74 women with no signs and symptoms of temporomandibular disorder were assigned to a control group. Pvu II and Xba I restriction fragment length polymorphisms were analyzed by direct haplotyping. The patient group was divided into three subgroups according to a visual analog scale (VAS): mild pain (0patient and control groups were compared, and the association between pain intensity and copy numbers of PX haplotype were evaluated using the chi-square test. No significant differences in genotype and haplotype frequencies were observed between the patient and control groups (p>.05). TMJ OA patients carrying the PX haplotype were found to have a significantly higher risk of moderate or severe pain compared to those without the PX haplotype, suggesting that ERalpha polymorphism may be associated with pain susceptibility in female TMJ OA patients. PMID:17391927

  13. Reliability and feasibility of physical fitness tests in female fibromyalgia patients.

    PubMed

    Carbonell-Baeza, A; Álvarez-Gallardo, I C; Segura-Jiménez, V; Castro-Piñero, J; Ruiz, J R; Delgado-Fernández, M; Aparicio, V A

    2015-02-01

    The aim of the present study was to determine the reliability and feasibility of physical fitness tests in female fibromyalgia patients. 100 female fibromyalgia patients (aged 50.6±8.6 years) performed the following tests twice (7 days interval test-retest): chair sit and reach, back scratch, handgrip strength, arm curl, chair stand, 8 feet up and go, and 6-min walk. Significant differences between test and retest were found in the arm curl (mean difference: 1.25±2.16 repetitions, Cohen d=0.251), chair stand (0.99±1.7 repetitions, Cohen d=0.254) and 8 feet up and go (-0.38±1.09 s, Cohen d=0.111) tests. Intraclass correlation coefficients (ICC) range from 0.92 in the arm curl test to 0.96 in the back scratch test. The feasibility of the tests (patients able to complete the test) ranged from 89% in the arm curl test to 100% in the handgrip strength test. Therefore, the reliability and feasibility of the physical fitness tests examined is acceptable for female fibromyalgia patients.

  14. Estrogen receptor gene polymorphism and craniofacial morphology in female TMJ osteoarthritis patients.

    PubMed

    Lee, D-G; Kim, T-W; Kang, S-C; Kim, S T

    2006-02-01

    The aim of this study was to investigate the possible influence of estrogen receptor alpha (ERalpha) polymorphism on the craniofacial skeleton in female patients suffering from symptomatic osteoarthritis (OA) of the temporomandibular joint (TMJ). The sample comprised 76 genetically unrelated Korean women diagnosed with OA by research diagnostic criteria for temporomandibular disorders (RDC-TMD). Direct haplotyping procedure was used to analyze the PvuII and XbaI RFLPs. Twelve cephalometric measurements were taken to evaluate the spatial position and dimensions of the mandible. Mann-Whitney's U-test was used to identify the potential differences in the cephalometric measurements between the subjects grouped according to their carrier status for Px haplotype. In addition, an association study was carried out using chi(2)-test to further examine the relationship between Px haplotype and the craniofacial morphology of the symptomatic OA patients. Female symptomatic TMJ OA patients carrying Px haplotype showed significantly smaller facial axis angle (P<0.05) and mandibular body length (P<0.05) than the non-carriers. The association between the presence of Px haplotype and short mandibular body length was also ascertained. This study suggests that ERa polymorphism contributes to the altered mandibular dimensions in female symptomatic TMJ OA patients. Further studies on the role of the genetic markers relevant to the craniofacial growth and adaptation are expected to broaden our understanding of determinants of the craniofacial morphology. PMID:16154319

  15. 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

  16. 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

  17. A Prospective Study of Depression and Anxiety in Female Fertility Preservation and Infertility Patients

    PubMed Central

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

    2014-01-01

    Objective To prospectively assess anxiety, depression, coping, and appraisal in female fertility preservation patients compared to infertile patients. Design Prospective pre- and post-treatment survey. Setting Academic medical center. Patients 47 women with cancer (FP) and 91 age-matched infertile patients. Interventions None. Main Outcome Measures Depression, anxiety, coping, infertility–related stress, appraisal of treatment, and medical outcomes. Results FP patients reported more symptoms of anxiety and depression than infertile patients, but infertile patients’ symptoms worsened over time. 44% of FP and 14% of infertile patients’ scores exceeded the clinical cut-off for depression at pre-treatment. The interval between surveys and medical treatment data did not predict changes in mood symptoms. Coping strategies and infertility-related stress did not differ between groups and avoidant coping predicted higher depression and anxiety scores. Conclusion FP patients reported more anxiety and depression than infertile patients at enrollment in treatment, with more than one third of FP patients reporting clinically significant depressive symptoms. However, infertile patients’ anxiety and depressive symptoms increased across treatment. This increase was not related to time between registration for IVF and oocyte retrieval or the medical aspects of treatment. FP and infertile patients should be provided psychological consultation prior to treatment to identify mood and anxiety symptoms and to refer patients for counseling as needed to prevent worsening of symptoms. PMID:25154674

  18. An unexpected affected female patient in a classical Lesch-Nyhan family.

    PubMed

    De Gregorio, L; Nyhan, W L; Serafin, E; Chamoles, N A

    2000-03-01

    Lesch-Nyhan disease is a genetic disorder of purine metabolism caused by defective activity of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26). The classical phenotype, which includes spasticity, involuntary movements, developmental disability, and self-injurious behavior, occurs exclusively in males, while heterozygous, carrier females are clinically normal. We analyzed an Argentine family in which there were male and female siblings with clinically identical classic features of Lesch-Nyhan disease. The mother and an older daughter were carriers and had normal phenotypes. We identified the HPRT mutation in the family. It is a C --> T transition at position 508 of the cDNA (c.508 C --> T) that changes the CGA codon for Arg(169) to the TGA stop codon (R169X). The female patient was karyotypically normal and heterozygous for the mutation. She inherited the HPRT mutation from her mother, but she also had unexpected nonrandom inactivation of the paternal X chromosome carrying the normal HPRT gene. This additional genetic alteration is the cause of the clinical expression of disease in this female patient.

  19. 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.

  20. MRI Assessment of Lean and Adipose Tissue Distribution in Female Patients with Cushing’s Disease

    PubMed Central

    Geer, Eliza B.; Shen, Wei; Gallagher, Dympna; Punyanitya, Mark; Looker, Helen C.; Post, Kalmon D.; Freda, Pamela U.

    2010-01-01

    Objective Chronic hypercortisolemia due to Cushing’s Disease (CD) results in abnormal adipose tissue (AT) distribution. Whole-body magnetic resonance imaging (MRI) was used to examine lean and AT distribution in female patients with CD to further understand the role of glucocorticoid excess in the development of abnormal AT distribution and obesity. Design Cross-sectional and case control study. Patients 15 females with CD and 12 healthy controls. Measurements Mass of skeletal muscle (SM) and AT in the visceral (VAT), subcutaneous (SAT), and inter-muscular (IMAT) compartments from whole-body MRI and serum levels of insulin, glucose, and leptin were measured. Results CD patients had leptin values that correlated to total AT (TAT) and SAT (p < 0.05) but not to VAT. CD patients had higher VAT/TAT ratios (p < 0.01) and lower SAT/TAT ratios (p < 0.05) compared to controls. TAT, VAT, and trunk SAT (TrSAT) were greater in CD patients (p < 0.01). SM was less in CD (p < 0.001) but IMAT was not different. Conclusions TAT, VAT, trSAT, and the proportion of AT in the visceral depot were greater in CD, though the proportion in the subcutaneous depot was less. SM was less but IMAT was not different. These findings have implications for understanding the role of cortisol in the abnormal AT distribution and metabolic risk seen in patients exposed to chronic excess glucocorticoids. PMID:20550536

  1. 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.

  2. 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

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

    PubMed

    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.

  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. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. Extrinsic Fabry-Perot ultrasonic detector

    NASA Astrophysics Data System (ADS)

    Kidwell, J. J.; Berthold, John W., III

    1996-10-01

    We characterized the performance of a commercial fiber optic extrinsic Fabry-Perot interferometer for use as an ultrasonic sensor, and compared the performance with a standard lead zirconate titanate (PZT) detector. The interferometer was unstabilized. The results showed that the fiber sensor was about 12 times less sensitive than the PZT detector. Ultrasonic frequency response near 100 kHz was demonstrated. We describe the design of the fiber sensor, the details of the tests performed, and potential applications.

  14. Increased serum levels of C21 steroids in female patients with multiple sclerosis.

    PubMed

    Kanceva, R; Stárka, L; Kancheva, L; Hill, M; Veliková, M; Havrdová, E

    2015-01-01

    Multiple sclerosis (MS) is one of the most common neurological diseases. This neurodegenerative autoimmune disease manifests as inflammatory and demyelinating impairment of the central nervous system (CNS). Although some studies demonstrated associations between altered steroidogenesis and pathophysiology of MS as well as the importance of steroids in the pathophysiology of MS, the knowledge concerning the steroid metabolome in female patients is limited. Hence, 51 steroids and steroid polar conjugates were measured in the serum of 12 women with MS, untreated with steroids and 6 age-corresponding female controls with the use of gas chromatography - mass spectrometry (GC-MS). The data were processed using age adjusted ANCOVA, receiver operating characteristics (ROC) analysis and orthogonal projections to latent structures (OPLS). Our data show higher levels of circulating C21 steroids including steroid modulators of ionotropic type A gamma-aminobutyric acid (GABA A) receptors and glutamate receptors. Furthermore, the levels of GABAergic androsterone and 5-androsten-3beta,7alpha,17beta-triol were also higher in the female MS patients. In conclusion, the data demonstrate higher levels of circulating C21 steroids and their polar conjugates and some bioactive C19 steroids in women with MS, which may influence neuronal activity and affect the balance between neuroprotection and excitotoxicity. PMID:26680486

  15. Increased serum levels of C21 steroids in female patients with multiple sclerosis.

    PubMed

    Kanceva, R; Stárka, L; Kancheva, L; Hill, M; Veliková, M; Havrdová, E

    2015-01-01

    Multiple sclerosis (MS) is one of the most common neurological diseases. This neurodegenerative autoimmune disease manifests as inflammatory and demyelinating impairment of the central nervous system (CNS). Although some studies demonstrated associations between altered steroidogenesis and pathophysiology of MS as well as the importance of steroids in the pathophysiology of MS, the knowledge concerning the steroid metabolome in female patients is limited. Hence, 51 steroids and steroid polar conjugates were measured in the serum of 12 women with MS, untreated with steroids and 6 age-corresponding female controls with the use of gas chromatography - mass spectrometry (GC-MS). The data were processed using age adjusted ANCOVA, receiver operating characteristics (ROC) analysis and orthogonal projections to latent structures (OPLS). Our data show higher levels of circulating C21 steroids including steroid modulators of ionotropic type A gamma-aminobutyric acid (GABA A) receptors and glutamate receptors. Furthermore, the levels of GABAergic androsterone and 5-androsten-3beta,7alpha,17beta-triol were also higher in the female MS patients. In conclusion, the data demonstrate higher levels of circulating C21 steroids and their polar conjugates and some bioactive C19 steroids in women with MS, which may influence neuronal activity and affect the balance between neuroprotection and excitotoxicity.

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. [Manifestation of malakoplakia in a urethral diverticulum in a female patient].

    PubMed

    Hatzinger, M; Vöge, D; Häfele, J; Alken, P; Sohn, M

    2008-01-01

    We report about a rare case of malakoplakia in a female urethral diverticulum. A 25-year-old patient with a long history of recurrent urinary tract infections and a plum-sized, painful swelling on the vaginal roof presented for operative treatment. In the anamnesis the patient reported about two spontaneous perforations, emptying several millilitres of pus each time. After total operative excision using a vaginal approach the histology showed malakoplakia in a urethral diverticulum. We found the typical intracytoplasmatic "Michaelis-Gutmann bodies" as well as "von Hansemann cells". Postoperatively we excluded an underlying tumour disease or a chronic infection. The further urological diagnostics (cystoscopy and MRI) were without any pathological findings. In patients with atypical cystic tumours of the urogenital tract, especially with an immune deficiency, malakoplakia should be taken in consideration. The preferred therapy is surgical management followed by long-term antibiosis as well as a close follow-up as recurrences are frequent. PMID:18228192

  1. 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.

  2. Acute Torsion of the Gallbladder in a 100-Year-Old Female Patient

    PubMed Central

    Taha, Assad M.; Welling, Richard E.

    1985-01-01

    Torsion of the gallbladder is rare. However, the surgeon should be aware of it and that unusual presentations in the elderly make early diagnosis very difficult. A 100-year-old white female presented with right-sided abdominal pain and was found to have acute torsion of the gallbladder. The clinical picture, diagnostic tests, and operative findings are outlined. Serial evaluations of the patient's condition and a high index of suspicion are essential elements for prompt recognition and early surgical management. PMID:3999156

  3. Cemento-ossifying fibroma of maxillary antrum in a young female patient.

    PubMed

    Singhal, A; Ram, R; Singhal, P; Bhatnagar, S; Das, U M

    2011-12-01

    The cemento-ossifying fibroma is classified as a fibro-osseous lesion of the jaws. It commonly presents as a progressively growing lesion that can attain an enormous size with resultant deformity if left untreated. The cemento-ossifying fibroma is a central neoplasm of bone as well as periodontium which has caused considerable controversy because of controversy regarding terminology and the criteria for its diagnosis. This case report describes a female patient with cemento-ossifying fibroma involving maxillary antrum. The clinical, radiographic and histological features as well as the surgical findings are presented.

  4. Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.

    PubMed

    Wakakuri, Hiroaki; Nakamura, Shunichi; Utsumi, Kouichi; Shimizu, Wataru; Yasutake, Masahiro

    2016-09-28

    Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-β after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes. PMID:27593536

  5. Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.

    PubMed

    Wakakuri, Hiroaki; Nakamura, Shunichi; Utsumi, Kouichi; Shimizu, Wataru; Yasutake, Masahiro

    2016-09-28

    Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-β after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes.

  6. Life events, anxiety, social support, personality, and alexithymia in female patients with chronic pain: A path analysis

    PubMed Central

    Zeng, Fanmin; Yang, Bangxiang; Fu, Xiaoqian

    2015-01-01

    Abstract Introduction This study sought to identify a model that explains the relationship between psychosocial factors and chronic pain in female patients, and to explore all of these constructs in a single study and provide a more holistic examination of the overall psychosocial factors that female patients with chronic pain encounter. Methods Female patients with chronic pain (n = 147), aged 20–65 (M = 34.9 years, SD = 11.25), from an outpatient pain clinic completed a cross‐sectional self‐report questionnaire on anxiety, life events, personality, social support, and alexithymia. Data were analyzed by means of path analysis. Results The direct effect of anxiety on female patients with chronic pain was greatest among all the paths. Personality and alexithymia led to chronic pain in female patients only indirectly, mediated by life events. The personality factors of neuroticism and extraversion were associated positively with social support, which had an indirect effect on the influence of life events on chronic pain. However, alexithymia was associated negatively with social support, which had an indirect effect on the influence of life events on chronic pain. Discussion Our findings provide evidence that life events are a mediator in the relationship between personality, social support, alexithymia, and chronic pain in female patients. PMID:26568558

  7. Acute Renal Failure, Microangiopathic Haemolytic Anemia, and Secondary Oxalosis in a Young Female Patient

    PubMed Central

    Stepien, Karolina M.; Prinsloo, Peter; Hitch, Tony; McCulloch, Thomas A.; Sims, Rebecca

    2011-01-01

    A 29-year old female presented with a one-week history of vomiting, diarrhoea, abdominal pain, and headache. On admission, she had acute renal failure requiring dialysis. Tests revealed a hemolytic anemia with thrombocytopenia. An initial diagnosis of thrombotic thrombocytopenic microangiopathy was made and plasma exchange was instigated. However, renal biopsy did not show thrombotic microangiopathy but instead revealed acute kidney injury with mild tubulointerstitial nephritis and numerous oxalate crystals, predominantly in the distal tubules. The patient had been taking large doses (>1100 mg daily) of vitamin C for many months. She also gave a history of sclerotherapy using injections of an ethylene glycol derivative for superficial leg veins. The patient completed five sessions of plasma exchange and was able to discontinue dialysis. She eventually achieved full renal recovery. She has now discontinued sclerotherapy and vitamin supplementation. PMID:21785726

  8. Glutamine supplementation favors weight loss in nondieting obese female patients. A pilot study.

    PubMed

    Laviano, A; Molfino, A; Lacaria, M T; Canelli, A; De Leo, S; Preziosa, I; Rossi Fanelli, F

    2014-11-01

    Glutamine supplementation improves insulin sensitivity in critically ill patients, and prevents obesity in animals fed a high-fat diet. We hypothesized that glutamine supplementation favors weight loss in humans. Obese and overweight female patients (n=6) were enrolled in a pilot, cross-over study. After recording anthropometric (that is, body weight, waist circumference) and metabolic (that is, glycemia, insulinemia, homeostatic model of insulin resistance (HOMA-IR)) characteristics, patients were randomly assigned to 4-week supplementation with glutamine or isonitrogenous protein supplement (0.5 g/KgBW/day). During supplementation, patients did not change their dietary habits nor lifestyle. At the end, anthropometric and metabolic features were assessed, and after 2 weeks of washout, patients were switched to the other supplement for 4 weeks. Body weight and waist circumference significantly declined only after glutamine supplementation (85.0±10.4 Kg vs 82.2±10.1 Kg, and 102.7±2.0 cm vs 98.9±2.9 cm, respectively; P=0.01). Insulinemia and HOMA-IR declined by 20% after glutamine, but not significantly so. This pilot study shows that glutamine is safe and effective in favoring weight loss and possibly enhancing glucose metabolism.

  9. Irony and Proverb Comprehension in Schizophrenia: Do Female Patients “Dislike” Ironic Remarks?

    PubMed Central

    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

  10. Identification and characterization of HPA-axis reactivity endophenotypes in a cohort of female PTSD patients.

    PubMed

    Zaba, Monika; Kirmeier, Thomas; Ionescu, Irina A; Wollweber, Bastian; Buell, Dominik R; Gall-Kleebach, Dominique J; Schubert, Christine F; Novak, Bozidar; Huber, Christine; Köhler, Katharina; Holsboer, Florian; Pütz, Benno; Müller-Myhsok, Bertram; Höhne, Nina; Uhr, Manfred; Ising, Marcus; Herrmann, Leonie; Schmidt, Ulrike

    2015-05-01

    Analysis of the function of the hypothalamic-pituitary-adrenal (HPA)-axis in patients suffering from posttraumatic stress disorder (PTSD) has hitherto produced inconsistent findings, inter alia in the Trier Social Stress Test (TSST). To address these inconsistencies, we compared a sample of 23 female PTSD patients with either early life trauma (ELT) or adult trauma (AT) or combined ELT and AT to 18 age-matched non-traumatized female healthy controls in the TSST which was preceded by intensive baseline assessments. During the TSST, we determined a variety of clinical, psychological, endocrine and cardiovascular parameters as well as expression levels of four HPA-axis related genes. Using a previously reported definition of HPA-axis responsive versus non-responsive phenotypes, we identified for the first time two clinically and biologically distinct HPA-axis reactivity subgroups of PTSD. One subgroup ("non-responders") showed a blunted HPA-axis response and distinct clinical and biological characteristics such as a higher prevalence of trauma-related dissociative symptoms and of combined AT and ELT as well as alterations in the expression kinetics of the genes encoding for the mineralocorticoid receptor (MR) and for FK506 binding protein 51 (FKBP51). Interestingly, this non-responder subgroup largely drove the relatively diminished HPA axis response of the total cohort of PTSD patients. These findings are limited by the facts that the majority of patients was medicated, by the lack of traumatized controls and by the relatively small sample size. The here for the first time identified and characterized HPA-axis reactivity endophenotypes offer an explanation for the inconsistent reports on HPA-axis function in PTSD and, moreover, suggest that most likely other factors than HPA-axis reactivity play a decisive role in determination of PTSD core symptom severity.

  11. 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

  12. Identification and characterization of HPA-axis reactivity endophenotypes in a cohort of female PTSD patients.

    PubMed

    Zaba, Monika; Kirmeier, Thomas; Ionescu, Irina A; Wollweber, Bastian; Buell, Dominik R; Gall-Kleebach, Dominique J; Schubert, Christine F; Novak, Bozidar; Huber, Christine; Köhler, Katharina; Holsboer, Florian; Pütz, Benno; Müller-Myhsok, Bertram; Höhne, Nina; Uhr, Manfred; Ising, Marcus; Herrmann, Leonie; Schmidt, Ulrike

    2015-05-01

    Analysis of the function of the hypothalamic-pituitary-adrenal (HPA)-axis in patients suffering from posttraumatic stress disorder (PTSD) has hitherto produced inconsistent findings, inter alia in the Trier Social Stress Test (TSST). To address these inconsistencies, we compared a sample of 23 female PTSD patients with either early life trauma (ELT) or adult trauma (AT) or combined ELT and AT to 18 age-matched non-traumatized female healthy controls in the TSST which was preceded by intensive baseline assessments. During the TSST, we determined a variety of clinical, psychological, endocrine and cardiovascular parameters as well as expression levels of four HPA-axis related genes. Using a previously reported definition of HPA-axis responsive versus non-responsive phenotypes, we identified for the first time two clinically and biologically distinct HPA-axis reactivity subgroups of PTSD. One subgroup ("non-responders") showed a blunted HPA-axis response and distinct clinical and biological characteristics such as a higher prevalence of trauma-related dissociative symptoms and of combined AT and ELT as well as alterations in the expression kinetics of the genes encoding for the mineralocorticoid receptor (MR) and for FK506 binding protein 51 (FKBP51). Interestingly, this non-responder subgroup largely drove the relatively diminished HPA axis response of the total cohort of PTSD patients. These findings are limited by the facts that the majority of patients was medicated, by the lack of traumatized controls and by the relatively small sample size. The here for the first time identified and characterized HPA-axis reactivity endophenotypes offer an explanation for the inconsistent reports on HPA-axis function in PTSD and, moreover, suggest that most likely other factors than HPA-axis reactivity play a decisive role in determination of PTSD core symptom severity. PMID:25745955

  13. 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

  14. An economic Fabry-Perot wavelength reference

    NASA Astrophysics Data System (ADS)

    Fżrész, Gábor; Glenday, Alex; Latham, Christian

    2014-07-01

    Precision radial velocity (PRV) measurements are key in studying exoplanets, and so are wavelength calibrators in PRV instruments. ThAr lamps offer an affordable but somewhat limited solution for the visible passband. Laser frequency combs are ideal calibrators, except the (still) narrow wavelength coverage and large price tag. White light Fabry-Perot (FP) calibrators offer frequency-comb like properties in a more affordable and less complicated package1. Using a commercial solid FP etalon and off-the shelf components we have constructed an economic FP calibrator suitable for observatories on a smaller budget.

  15. 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

  16. 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.

  17. 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

  18. Identification of novel serum peptides biomarkers for female breast cancer patients in Western China.

    PubMed

    Yang, Juan; Xiong, Xiaofan; Liu, Siyuan; Zhu, Jiang; Luo, Mai; Liu, Liying; Zhao, Lingyu; Qin, Yannan; Song, Tusheng; Huang, Chen

    2016-03-01

    This study aimed to identify novel serum peptides biomarkers for female breast cancer (BC) patients. We analyzed the serum proteomic profiling of 247 serum samples from 96 BC patients, 48 additional paired pre- and postoperative BC patients, 39 fibroadenoma patients as benign disease controls, and 64 healthy controls, using magnetic-bead-based separation followed by MALDI-TOF MS. ClinProTools software identified 78 m/z peaks that differed among all analyzed groups, ten peaks were significantly different (P < 0.0001), with Peaks 1-6 upregulated and Peaks 7-10 downregulated in BC. Moreover, three peaks of ten (Peak 1, m/z: 2660.11; Peak 2, m/z: 1061.09; Peak 10, m/z: 1041.25) showed a tendency to return to healthy control values after surgery. And these three peptide biomarkers were identified as FGA605-629, ITIH4 347-356, and APOA2 43-52. Methods used in this study could generate serum peptidome profiles of BC, and provide a new approach to identify potential biomarkers for diagnosis as well as prognosis of this malignancy. PMID:26705257

  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.

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

    PubMed Central

    von Tscharner, V.; Hutchison, C.; Ronsky, J. L.

    2015-01-01

    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/m2; 9 healthy control subjects, 61.4 ± 7.4 yr, BMI 25.6 ± 2.4 kg/m2] 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

  1. 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.

  2. 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

  3. 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

  4. Further validation of the IBS-QOL: female Mexican IBS patients have poorer quality of life than females from North Carolina.

    PubMed

    Schmulson, Max; Ortiz, Orianna; Mejia-Arangure, Juan Manuel; Hu, Yuming B; Morris, Carolyn; Arcila, Denise; Gutierrez-Reyes, Gabriela; Bangdiwala, Shrikant; Drossman, Douglas A

    2007-11-01

    The Irritable Bowel Syndrome (IBS)-Quality of Life (QOL) is the most extensively validated health-related quality of life (HRQOL)-specific instrument for IBS with appropriate evidence for psychometric validity. Our aim was to linguistically validate the IBS-QOL for Mexico according to standard guidelines, to conduct further psychometric validation, and to compare the HRQOL between IBS patients from Mexico and North Carolina (University of North Carolina). Construct validity was tested by correlating scores from the Mexican Spanish IBS-QOL with those for anxiety and depression obtained by the Hospital Anxiety and Depression scale. Also, HRQOL from Rome I female IBS patients who consulted a tertiary referral center in Mexico was compared with that of female patients from UNC matched by age and bowel habit. A general univariate linear model was done to determine the most important variable over HRQOL, place of origin, or bowel habit. The majority of the IBS-QOL items had a negative correlation with depression as well as with anxiety. Compared to patients from UNC, the Mexican ones reported significant lower scores on Body Image and Health Worry and a trend in Interference with activities and in the Overall score. There were some differences in Dysphoria and Interference that were related to bowel habit, independently of the place of origin. In conclusion, the IBS-QOL validated in Mexican Spanish has shown construct validity. Using this instrument we found that female IBS patients who consulted a tertiary referral center in Mexico have lower HRQOL than those in North Carolina at least in factors such as Body Image and Health Worry.

  5. Fosfomycin tromethamine. Antibiotic of choice in the female patient: A multicenter study

    PubMed Central

    Khan, Farzana Bashir; Dar, Tanveer Iqbal; Bhat, Arif Hameed; Wani, Mohd Saleem; Wazir, Baldev Singh

    2015-01-01

    Introduction The aim of this study was to evaluate oral single/multiple doses of Fosfomycin Trometamol with clinical and microbiological efficacy in:Asymptomatic bacteriuria in pregnancy.Endourological procedures.Lower urinary tract infections. Material and methods This prospective, uncontrolled, open label study was conducted in two tertiary hospitals over a period of three years. A total of 400 patients were included in the study. Group A (200 patients) with asymptomatic bacteriuria in pregnancy and Group B (200 Patients) with symptomatic lower urinary tract infections and with any day care endourological procedures were enrolled in our study. Efficacy end points like post- antibiotic urinalysis, microbiological efficacy and clinical improvement with adverse effects of the drug were evaluated. Results Of the 400 patients studied, 98% returned for follow-up. Out of the 304 urinary isolates in Table 2 (ASB and symptomatic LUTS) grown on urinary culture, majority of the isolates were Gram-negative Enterobacteriacae family. After oral single/multiple doses of fosfomycin, bacterial eradication, bacterial persistence, bacterial reinfection were 96.3%, 3.9%, 3.9% respectively (Figure 2). No isolates were grown in 8 cases (Table 2). However, on administration of the drug 23.5% patients noticed diarrhea (loose stools) followed by itching (19.7%) in genital area (Figure 1). Conclusions Fosfomycin Trometamol is a bactericidal antibiotic with a broad spectrum activity against Gram-positive also Gram-negative bacteriae. It has an advantage of oral single /multiple doses, higher eradication rate of bacteria after 48 hours, excellent tolerability and safety in pregnancy and other female age groups. We recommend Fosfomycin Trometamol as the drug of choice particularly in patients with poor drug compliance and for minor day care endourological procedures. PMID:26568884

  6. 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

  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. 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

  9. 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.

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

    PubMed

    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.

  11. 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.

  12. 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

  13. 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

  14. Nature and frequency of mutations in the [alpha]-galactosidase A gene that cause Fabry disease

    SciTech Connect

    Eng, C.M.; Resnick-Silverman, L.A.; Niehaus, D.J.; Astrin, K.H.; Desnick, R.J. )

    1993-12-01

    To determine the nature and frequency of the molecular lesions causing the classical and milder-variant Fabry phenotypes, and for precise carrier detection in Fabry families, the [alpha]-Gal A transcripts or genomic sequences from unrelated Fabry hemizygotes were analyzed. In patients with the classical phenotype, 18 new mutations were identified: N34S, C56G, W162R, R227Q, R227X, D264V, D266V, S297F, D313Y, G328A, W340X, E398X, IVS2+2, IVS5[delta]-2,3, 773[delta]2, 954[delta]5, 1016[delta]11, and 1123[delta]53. Unrelated asymptomatic or mildly affected patients with symptoms confined to the heart had a missense mutation, N215S, that expressed residual enzymatic activity. Related, moderately affected patients with late-onset cardiac and pulmonary manifestations had a small deletion, 1208[delta]3, that predicted the in-frame deletion of arginine 404 near the terminus of the 429 residue enzyme polypeptide. In addition, five small gene rearrangements involving exonic sequences were identified in unrelated classically affected patients. Two small deletions and one small duplication had short direct repeats at their respective breakpoint junctions and presumably resulted from slipped mispairing. A deletion occurred at a potential polymerase [alpha] arrest site, while the breakpoints of another deletion occurred at an inverted tetranucleotide repeat. Screening of unrelated Fabry patients with allele-specific oligonucleotides for seven mutations revealed that these were private, with the notable exception of N215S, R227Q, and R227X, which were each found in several unrelated families from different ethnic backgrounds. The CpG dinucleotide at codon 227 was the most common site of mutation, having been altered in 5% of the 148 unrelated Fabry alleles. These studies revealed that most [alpha]-Gal A lesions were private, that codon 227 was a mutational hot spot, and that certain mutations predicted a milder disease phenotype. 40 refs., 8 figs., 3 tabs.

  15. 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

  16. 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

  17. Ulcus vulvae acutum Lipschütz in two young female patients.

    PubMed

    Kinyó, Ágnes; Nagy, Nikoletta; Oláh, Judit; Kemény, Lajos; Bata-Csörgő, Zsuzsanna

    2014-01-01

    Ulcus vulvae acutum Lipschütz or acute genital ulcer is a distinct clinical entity characterized by sudden painful genital ulceration occurring mostly in young and virgin girls with malaise, fever and other systemic symptoms. This distressing syndrome is rare and may be presented to dermatologists, gynecologists or pediatricians. Its diagnosis and therapy can be challenging. We present two young female patients with ulcus vulvae acutum. The cause of the disease could not be confirmed in our patients, but, interestingly, both patients had partial IgA deficiency. In the last 100 years, after its first description by Lipschütz, many case reports and series have aimed to identify a specific cause of the disease, without success. These studies mainly focused on infectious agents as causative factors, however, in most cases connection with infection could not be confirmed. Our opinion is that the decreased level of IgA could be a possible explanation for the cause of this syndrome. With our cases we would like to emphasize the possible role of local immunological mechanisms rather than several infectious agents in the development of this little-known disease.

  18. [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

  19. A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy.

    PubMed

    Frousiakis, Starleen E; Pouw, Andrew E; Karanjia, Rustum; Sadun, Alfredo A

    2014-09-01

    We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history was significant for a known G11778A mutation in a maternal relative, consistent with LHON. The patient was also positive for the G11778A mutation; however, the genotype demonstrated low penetrance in the pedigree, with only 1 out of 10 adult male offspring showing signs or symptoms of the disease. Mitochondrial mutations implicated in LHON have been shown to impair complex I of the electron transport chain and thereby reducing the effective generation of adenosine triphosphate and increasing the production of toxic reactive oxygen species. Although the partial or complete triplicate of chromosome 21 constitutes the etiology of DS, some of the pleiotropic phenotypes of the syndrome have been attributed to oxidative stress and mitochondrial dysfunction. Given the low penetrance of the mutation and the patient's sex, this case illustrates the possibility that the mitochondrial mutation demonstrated increased penetrance due to pre-existing mitochondrial dysfunction related to DS.

  20. Alcohol Use Predicts Number of Sexual Partners for Female but not Male STI Clinic Patients.

    PubMed

    Carey, Kate B; Senn, Theresa E; Walsh, Jennifer L; Scott-Sheldon, Lori A J; Carey, Michael P

    2016-01-01

    This study tested the hypothesis that greater alcohol involvement will predict number of sexual partners to a greater extent for women than for men, and that the hypothesized sex-specific, alcohol-sexual partner associations will hold when controlling for alternative sex-linked explanations (i.e., depression and drug use). We recruited 508 patients (46 % female, 67 % African American) from a public sexually transmitted infections (STI) clinic. Participants reported number of sexual partners, drinks per week, maximum drinks per day, frequency of heavy drinking; they also completed the AUDIT-C and a measure of alcohol problems. As expected, men reported more drinking and sexual partners. Also as expected, the association between alcohol use and number of partners was significant for women but not for men, and these associations were not explained by drug use or depression. A comprehensive prevention strategy for women attending STI clinics might include alcohol use reduction.

  1. 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

  2. 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

  3. Primary plasmacytoma of the cervix in a 21-year-old female patient.

    PubMed

    Schor, Ana Paula T; Moraes, Marcelo P T; Bisson, Frank W; Bisson, Marcelo A M; Luiz, Orlando M R; Bacchi, Carlos E

    2010-05-01

    Extramedullary (extraosseous) plasmacytomas are localized, plasma cell neoplasms that arise in tissues other than bone and bone marrow, and constitute about 4% of all plasma cell neoplasms. Extramedullary (extraosseous) plasmacytomas rarely affects the female lower genital tract; only 6 cases of primary cervix plasmacytomas have been reported to date. Here we describe the case of an otherwise healthy 21-year-old woman who presented for a routine examination with no symptoms. A Pap smear showed an intense inflammatory process with some atypical cells. This was confirmed by microscopic examination of a biopsy, which revealed a metaplastic process of the cervix with a massive infiltration of plasma cells with mild atypia. The atypical plasma cells showed cytoplasmic lambda immunoglobulin light chain restriction with the absence of kappa light chains, indicative of monoclonality. The patient was extensively screened for systemic disease, including bone marrow biopsy, but the disease was restricted to the cervix.

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. [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.

  10. Research on quality of life in female patients with congenital adrenal hyperplasia and issues in developing nations.

    PubMed

    Zainuddin, Ani Amelia; Grover, Sonia R; Shamsuddin, Khadijah; Mahdy, Zaleha Abdullah

    2013-12-01

    Congenital adrenal hyperplasia (CAH) is the commonest cause of ambiguous genitalia for female newborns and is one of the conditions under the umbrella term of "Disorders of Sex Development" (DSD). Management of these patients require multidisciplinary collaboration and is challenging because there are many aspects of care, such as the most appropriate timing and extent of feminizing surgery required and attention to psychosexual, psychological, and reproductive issues, which still require attention and reconsideration, even in developed nations. In developing nations, however, additional challenges prevail: poverty, lack of education, lack of easily accessible and affordable medical care, traditional beliefs on intersex, religious, and cultural issues, as well as poor community support. There is a paucity of long-term outcome studies on DSD and CAH to inform on best management to achieve optimal outcome. In a survey conducted on 16 patients with CAH and their parents in a Malaysian tertiary center, 31.3% of patients stated poor knowledge of their condition, and 37.5% did not realize that their medications were required for life. This review on the research done on quality of life (QOL) of female patients with CAH aims: to discuss factors affecting QOL of female patients with CAH, especially in the developing population; to summarize the extant literature on the quality of life outcomes of female patients with CAH; and to offer recommendations to improve QOL outcomes in clinical practice and research.

  11. Fabry-Perot resonance of water waves.

    PubMed

    Couston, Louis-Alexandre; Guo, Qiuchen; Chamanzar, Maysamreza; Alam, Mohammad-Reza

    2015-10-01

    We show that significant water wave amplification is obtained in a water resonator consisting of two spatially separated patches of small-amplitude sinusoidal corrugations on an otherwise flat seabed. The corrugations reflect the incident waves according to the so-called Bragg reflection mechanism, and the distance between the two sets controls whether the trapped reflected waves experience constructive or destructive interference within the resonator. The resulting amplification or suppression is enhanced with increasing number of ripples and is most effective for specific resonator lengths and at the Bragg frequency, which is determined by the corrugation period. Our analysis draws on the analogous mechanism that occurs between two partially reflecting mirrors in optics, a phenomenon named after its discoverers Charles Fabry and Alfred Perot.

  12. Fabry-Perot resonance of water waves

    NASA Astrophysics Data System (ADS)

    Couston, Louis-Alexandre; Guo, Qiuchen; Chamanzar, Maysamreza; Alam, Mohammad-Reza

    2015-10-01

    We show that significant water wave amplification is obtained in a water resonator consisting of two spatially separated patches of small-amplitude sinusoidal corrugations on an otherwise flat seabed. The corrugations reflect the incident waves according to the so-called Bragg reflection mechanism, and the distance between the two sets controls whether the trapped reflected waves experience constructive or destructive interference within the resonator. The resulting amplification or suppression is enhanced with increasing number of ripples and is most effective for specific resonator lengths and at the Bragg frequency, which is determined by the corrugation period. Our analysis draws on the analogous mechanism that occurs between two partially reflecting mirrors in optics, a phenomenon named after its discoverers Charles Fabry and Alfred Perot.

  13. Dental implants inserted in male versus female patients: a systematic review and meta-analysis.

    PubMed

    Chrcanovic, B R; Albrektsson, T; Wennerberg, A

    2015-09-01

    The aim of this meta-analysis was to test the null hypothesis of no difference in the failure rates, marginal bone loss (MBL) and post-operative infection for implants inserted in male or female patients, against the alternative hypothesis of a difference. An electronic search without time or language restrictions was undertaken in December 2014. Eligibility criteria included clinical human studies, either randomized or not. Ninety-one publications were included, with a total of 27,203 implants inserted in men (1185 failures), and 25,154 implants inserted in women (1039 failures). The results suggest that the insertion of dental implants in male patients statistically affected the implant failure rates (RR 1.21, 95% CI 1.07-1.37, P = 0.002). Due to the limited number of studies reporting results on MBL, it is difficult to estimate the real effect of the insertion of implants in different sexes on the marginal bone level. Due to lack of satisfactory information, meta-analysis for the outcome 'post-operative infection' was not performed. The results have to be interpreted with caution due to the presence of several confounding factors in the included studies.

  14. Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 gene.

    PubMed

    Brender, Teva; Wallerstein, Donna; Sum, John; Wallerstein, Robert

    2015-01-01

    Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation. PMID:25789183

  15. Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

    PubMed Central

    Brender, Teva; Wallerstein, Donna; Sum, John; Wallerstein, Robert

    2015-01-01

    Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation. PMID:25789183

  16. Two Different Minimally Invasive Techniques for Female Patients with Atrial Septal Defects: Totally Thoracoscopic Technique and Right Anterolateral Thoracotomy Technique

    PubMed Central

    Xu, Ming; Zhu, Shaoping; Wang, Xianguo; Huang, Hua

    2015-01-01

    Background: To compare the outcomes of totally thoracoscopic technique (TTS) vs. right anterolateral thoracotomy technique (RALT) in female patients undergoing minimal invasive atrial septal defect (ASD) correction. Methods: From March 2011 to January 2013, 125 female patients underwent minimally invasive atrial septal defect closure, of whom 62 patients were in the TTS group and 63 were in the RALT group. Results: Procedures were performed successfully in all patients without in-hospital mortality or major complications. cardiopulmonary bypass (CPB) time were 48.95 ± 15.63 min in TTS group, 31.4 ± 8.04 min in RALT group (p <0.001); the cross-clamp time were 26.92 ± 11.84 min in TTS group and 18.51 ± 6.11 min in RALT group (p <0.001). The length of incision in RALT group (6.02 ± 1.03 cm) was longer than TTS group (5.31 ± 0.68 cm) and the difference was significant (p <0.001). The overall satisfaction rate for the cosmetic results of TTS was 100% and was 96.83% (61/63 patients) in RALT patients. During follow-up, all patients in TTS group were satisfied expect two patients complained that scar was too long at groin. Reasons for a lower score in RALT group included the long scar in the chest; a RALT incision that was located too medially (coming off the bra line) and asymmetrical breast development. Conclusions: Both TTS and RALT are valid and reliable cosmetic surgical techniques for repairing ASDs in female patients. Both techniques allow excellent cosmetic and functional results in most female patients. The totally thoracoscopic technique may gain shorter incision and cosmetic results compared with RALT. PMID:26004113

  17. 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

  18. Studies of HLA associations in male and female patients with Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

    PubMed

    McCombe, Pamela A; Csurhes, Peter A; Greer, Judith M

    2006-11-01

    HLA associations are found to differ with the gender of the patient in some autoimmune diseases. Here we have investigated whether there are gender-related HLA associations in Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), both of which occur more frequently in male patients than in females. In GBS, no particular HLA associations were noted, except for a slight negative association in both males and females for carriage of HLA-DR5. In CIDP, the gene frequency and the frequency of individuals positive for HLA-DR2 were greater in female patients than female controls, although this was statistically significant only for the gene frequency. Furthermore more female CIDP patients were homozygous for DR2, than male CIDP patients, or male or female controls and patients with GBS. This suggests that sex-related factors may interact with the risk associated with carriage of HLA-DR2 for development of CIDP.

  19. Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

    PubMed

    von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim

    2016-10-01

    Little is known about the experiences of women with Fabry disease. The aim of this study was to explore women's experiences of being heterozygous for Fabry disease. We used an explorative qualitative study design and selected ten Norwegian women who were known heterozygous for Fabry disease to participate. We conducted in-depth semi-structured interviews and analyzed the interviews using inductive thematic analysis. We found that learning about one's heterozygous status may be devastating for some. However, for most of the participants, heterozygous status, as well as doctors' acceptance of symptoms in women heterozygous for Fabry disease, provided an explanation and relief. Although many women did not consider themselves ill, they wished to be acknowledged as more than "just carriers." The participants were grateful for enzyme replacement therapy, although it had its burdens regarding time, planning, and absences from school or work. Women with Fabry disease felt that the lack of knowledge among healthcare professionals about Fabry disease was frustrating and worrisome. These findings suggest that healthcare professionals should acknowledge the different ways women react to their diagnosis, and be aware of the personal costs of receiving treatment. PMID:26948256

  20. Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

    PubMed

    von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim

    2016-10-01

    Little is known about the experiences of women with Fabry disease. The aim of this study was to explore women's experiences of being heterozygous for Fabry disease. We used an explorative qualitative study design and selected ten Norwegian women who were known heterozygous for Fabry disease to participate. We conducted in-depth semi-structured interviews and analyzed the interviews using inductive thematic analysis. We found that learning about one's heterozygous status may be devastating for some. However, for most of the participants, heterozygous status, as well as doctors' acceptance of symptoms in women heterozygous for Fabry disease, provided an explanation and relief. Although many women did not consider themselves ill, they wished to be acknowledged as more than "just carriers." The participants were grateful for enzyme replacement therapy, although it had its burdens regarding time, planning, and absences from school or work. Women with Fabry disease felt that the lack of knowledge among healthcare professionals about Fabry disease was frustrating and worrisome. These findings suggest that healthcare professionals should acknowledge the different ways women react to their diagnosis, and be aware of the personal costs of receiving treatment.

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

    PubMed Central

    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

  2. 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

  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.

  4. Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.

    PubMed

    Lemansky, P; Bishop, D F; Desnick, R J; Hasilik, A; von Figura, K

    1987-02-15

    The synthesis and processing of the human lysosomal enzyme alpha-galactosidase A was examined in normal and Fabry fibroblasts. In normal cells, alpha-galactosidase A was synthesized as an Mr = 50,500 precursor, which contained phosphate groups in oligosaccharide chains cleavable by endoglucosaminidase H. The precursor was processed via ill-defined intermediates to a mature Mr 46,000 form. Processing was complete within 3-7 days after synthesis. In the presence of NH4Cl and in I-cell fibroblasts, the majority of newly synthesized alpha-galactosidase A was secreted as an Mr = 52,000 form. For comparison, the processing and stability of alpha-galactosidase A were examined in fibroblasts from five unrelated patients with Fabry disease, which is caused by deficient alpha-galactosidase A activity. In one cell line, synthesis of immunologically cross-reacting polypeptides was not detectable. In another, the synthesis, processing, and stability of alpha-galactosidase A was indistinguishable from that in normal fibroblasts. In a third Fabry cell line, the mutation retarded the maturation of alpha-galactosidase A. Finally, in two cell lines, alpha-galactosidase A polypeptides were synthesized that were rapidly degraded following delivery to lysosomes. These results clearly indicate that Fabry disease comprises a heterogeneous group of mutations affecting synthesis, processing, and stability of alpha-galactosidase A. PMID:3029062

  5. 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

  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. [57-year-old female patient in early retirement with underweight and chronic-relapsing diarrhoea].

    PubMed

    Allgayer, H; Mainos, D; Dietrich, C F

    2007-02-01

    Underweight as a consequence of chronic diarrhoea may lead to fatigue, tiredness and impaired physical performance, especially when the underlying cause has not been evaluated. In spite of algorithms as a help in the differential diagnosis, an individual approach with critical consideration of diet history, laboratory data and imaging procedures is necessary. Additional difficulties may arise when the history of food intolerance is inconsistent and technical findings including endoscopy are inconclusive. We report on a 57-year-old female patient with underweight, chronic intermittent diarrhoea and cramp-like abdominal pain for more than 10 years following pelvic irradiation due to Hodgkin's disease of the ovary. A systematic diagnostic approach was not undertaken until very recently due to the deterioration of her clinical conditions pointing to jejunal malabsorption. In spite of the absence of a specific history of milk/milk product intolerance a lactose H (2)-breath test was performed showing lactase deficiency with lactose intolerance. The rapid improvement of all her symptoms after a lactose-poor diet had been started supported this diagnosis. Possible reasons for the long time period which had elapsed until the diagnosis was established and the discrepancy of the H (2)-breath test results with the absence of a clear-cut history for milk/milk product intolerance are discussed in terms of the importance of a structured history-taking with regard to nutrition and diet habits. In addition, potential explanations for radiation-induced functional damage in the absence of morphological abnormalities are provided. Based on the experience of this case and considerations regarding the consequences of radiation-induced jejunal damage, we recommend that a lactose-H (2) breath test be routinely included in the diagnostic work-up of patients with unclear chronic diarrhoea even if there is no defined history of milk/milk product intolerance. PMID:17304404

  8. 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

  9. Charles Fabry métrologue

    NASA Astrophysics Data System (ADS)

    Bouchareine, P.

    We describe the two main experimental results obtained by Charles Fabry in fundamental metrology. First, the measurement of the volume of a quartz cube was achieved with Macé de Lépinay, conducting to an enhanced value of the ratio between one "litre" and one cubic decimetre. The probably most important experimental result is the second measurement of the "metre" in optical wavelengths, made in "Conservatoire des arts et métiers”, some years after the first one achieved by Albert Michelson with Jean-René Benoît in the "Bureau international des poids et mesures" in Sèvres. We compare the two experimental devices and processes, the results and their uncertainties. The very good agreement between the two interferometrists was an argument to convince the international community that an atomic wavelength is a better standard for lengths measurements than the platinum Prototype, and lead to the two new definitions of the "mètre" in 1960 and1983. Nous décrivons les deux principaux résultats obtenus par Charles Fabry en métrologie fondamentale. Tout d'abord la mesure du volume d'un cube de quartz a été faite avec Macé de Lépinay, conduisant à une meilleure valeur du rapport du litre au décimètre cube. Le résultat expérimental le plus significatif est probablement la mesure du mètre en longueurs d'onde lumineuses, effectuée au Conservatoire des arts et métiers, quelques années après la première mesure de ce type faite par Albert Michelson avec Jean-René Benoît au Bureau international des poids et mesures à Sèvres. Nous comparons les deux dispositifs expérimentaux et leur exploitation, les résultats et leurs incertitudes. Le très bon accord entre les deux expérimentateurs fut décisif pour convaincre la communauté internationale que la longueur d'onde d'une radiation atomique est un meilleur étalon pour les mesures de longueur que le Prototype international en platine iridié, et conduisit aux deux nouvelles définitions du mètre de 1960

  10. 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.

  11. 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

  12. Oxidative Stress, DNA Damage and DNA Repair in Female Patients with Diabetes Mellitus Type 2

    PubMed Central

    Grindel, Annemarie; Guggenberger, Bianca; Eichberger, Lukas; Pöppelmeyer, Christina; Gschaider, Michaela; Tosevska, Anela; Mare, George; Briskey, David; Brath, Helmut; Wagner, Karl-Heinz

    2016-01-01

    Background Diabetes mellitus type 2 (T2DM) is associated with oxidative stress which in turn can lead to DNA damage. The aim of the present study was to analyze oxidative stress, DNA damage and DNA repair in regard to hyperglycemic state and diabetes duration. Methods Female T2DM patients (n = 146) were enrolled in the MIKRODIAB study and allocated in two groups regarding their glycated hemoglobin (HbA1c) level (HbA1c≤7.5%, n = 74; HbA1c>7.5%, n = 72). In addition, tertiles according to diabetes duration (DD) were created (DDI = 6.94±3.1 y, n = 49; DDII = 13.35±1.1 y, n = 48; DDIII = 22.90±7.3 y, n = 49). Oxidative stress parameters, including ferric reducing ability potential, malondialdehyde, oxidized and reduced glutathione, reduced thiols, oxidized LDL and F2-Isoprostane as well as the activity of antioxidant enzymes superoxide dismutase, catalase and glutathione peroxidase were measured. Damage to DNA was analyzed in peripheral blood mononuclear cells and whole blood with single cell gel electrophoresis. DNA base excision repair capacity was tested with the modified comet repair assay. Additionally, mRNA expressions of nine genes related to base excision repair were analyzed in a subset of 46 matched individuals. Results No significant differences in oxidative stress parameters, antioxidant enzyme activities, damage to DNA and base excision repair capacity, neither between a HbA1c cut off />7.5%, nor between diabetes duration was found. A significant up-regulation in mRNA expression was found for APEX1, LIG3 and XRCC1 in patients with >7.5% HbA1c. Additionally, we observed higher total cholesterol, LDL-cholesterol, LDL/HDL-cholesterol, triglycerides, Framingham risk score, systolic blood pressure, BMI and lower HDL-cholesterol in the hyperglycemic group. Conclusion BMI, blood pressure and blood lipid status were worse in hyperglycemic individuals. However, no major disparities regarding oxidative stress, damage to DNA and DNA repair were present which

  13. Scapular notching and osteophyte formation after reverse shoulder replacement: Radiological analysis of implant position in male and female patients.

    PubMed

    Roche, C P; Marczuk, Y; Wright, T W; Flurin, P-H; Grey, S; Jones, R; Routman, H D; Gilot, G; Zuckerman, J D

    2013-04-01

    This study provides recommendations on the position of the implant in reverse shoulder replacement in order to minimise scapular notching and osteophyte formation. Radiographs from 151 patients who underwent primary reverse shoulder replacement with a single prosthesis were analysed at a mean follow-up of 28.3 months (24 to 44) for notching, osteophytes, the position of the glenoid baseplate, the overhang of the glenosphere, and the prosthesis scapular neck angle (PSNA). A total of 20 patients (13.2%) had a notch (16 Grade 1 and four Grade 2) and 47 (31.1%) had an osteophyte. In patients without either notching or an osteophyte the baseplate was found to be positioned lower on the glenoid, with greater overhang of the glenosphere and a lower PSNA than those with notching and an osteophyte. Female patients had a higher rate of notching than males (13.3% vs 13.0%) but a lower rate of osteophyte formation (22.9% vs 50.0%), even though the baseplate was positioned significantly lower on the glenoid in females (p = 0.009) and each had a similar mean overhang of the glenosphere. Based on these findings we make recommendations on the placement of the implant in both male and female patients to avoid notching and osteophyte formation. PMID:23539706

  14. [Combined Chemotherapy with Radiation was Tolerable and Effective Treatment in Female Octogenarian Patients with Urethral Cancer -Two Case Reports].

    PubMed

    Tachibana, Takashi; Matsumoto, Kazumasa; Nagi, Shoji; Hagiwara, Masahiro; Kobayashi, Kentaro; Tsumura, Hideyasu; Yoshida, Kazunari; Iwamura, Masatsugu

    2016-07-01

    We report two octogenarian patients with primary urethral cancer treated with chemotherapy and external beam radiation therapy. An 85-year-old female presented with perineal bleeding. Magnetic resonance imaging (MRI) showed a locally advanced tumor in the urethra. Biopsy was performed and pathologic findings demonstrated squamous cell carcinoma. After receiving one cycle of a half dose of gemcitabine and nedaplatin, the patient received external beam radiation therapy with gemcitabine and nedaplatin treatment followed by two more cycles of chemotherapy. Complete response was achieved. An 87-year-old female presented with vaginal bleeding. MRIrevealed locally advanced urethral tumor with bilateral inguinal lymph node metastases. Scratch and urine cytology of tumor demonstrated squamous cell carcinoma. After the same treatment as in case 1, primary cancer and lymph node metastases were significantly decreased. There have been no signs of recurrence or progression after treatment, and no severe adverse events in either patient during 53 and 26 months'follow up, respectively. PMID:27569355

  15. 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.

  16. Surface Plasmons in Fabry-Perot Microcavities

    NASA Astrophysics Data System (ADS)

    Gregory, Stephen

    2000-05-01

    We have developed a technique for creating a tunable Fabry-Perot microcavity by flattening a tunneling microscope tip to create a mirror which is then opposed to a semitransparent metal-film mirror. The latter is deposited on a glass prism through which light can be directed into the cavity and which transmits light emitted by the cavity. With this arrangement we can reproducibly investigate behavior as the mirror separation is tuned down to contact. The modes usually associated with optical cavities are free-space solutions of Maxwell's equations and are populated by photons. However, in a microscopic cavity we must also consider near-field phenomena such as surface-plasmons at the surfaces of the mirrors. These can be excited by a laser beam incident on the prism at an appropriate angle. Surface-plasmon solutions include coupled modes involving both mirrors, which are radially confined in the microcavity. We are studying interconversion of photons and surface-plasmons and the lifetimes of both types of excitations, in particular as these are modified by cavity quantum electrodynamic effects.

  17. DNA methylation patterns of protein coding genes and long noncoding RNAs in female schizophrenic patients.

    PubMed

    Liao, Qi; Wang, Yunliang; Cheng, Jia; Dai, Dongjun; Zhou, Xingyu; Zhang, Yuzheng; Gao, Shugui; Duan, Shiwei

    2015-02-01

    Schizophrenia (SCZ) is a complex mental disorder contributed by both genetic and epigenetic factors. Long noncoding RNAs (lncRNAs) was recently found playing an important regulatory role in mental disorders. However, little was known about the DNA methylation of lncRNAs, although numerous SCZ studies have been performed on genetic polymorphisms or epigenetic marks in protein coding genes. We presented a comprehensive genome wide DNA methylation study of both protein coding genes and lncRNAs in female patients with paranoid and undifferentiated SCZ. Using the methyl-CpG binding domain (MBD) protein-enriched genome sequencing (MBD-seq), 8,163 and 764 peaks were identified in paranoid and undifferentiated SCZ, respectively (p < 1 × 10-5). Gene ontology analysis showed that the hypermethylated regions were enriched in the genes related to neuron system and brain for both paranoid and undifferentiated SCZ (p < 0.05). Among these peaks, 121 peaks were located in gene promoter regions that might affect gene expression and influence the SCZ related pathways. Interestingly, DNA methylation of 136 and 23 known lncRNAs in Refseq database were identified in paranoid and undifferentiated SCZ, respectively. In addition, ∼20% of intergenic peaks annotated based on Refseq genes were overlapped with lncRNAs in UCSC and gencode databases. In order to show the results well for most biological researchers, we created an online database to display and visualize the information of DNA methyation peaks in both types of SCZ (http://www.bioinfo.org/scz/scz.htm). Our results showed that the aberrant DNA methylation of lncRNAs might be another important epigenetic factor for SCZ.

  18. 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.

  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.

  20. 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

  1. Fabrication of Fabry-Perot Interferometer Sensors and Characterization of their Performances for Aircraft Inspection

    NASA Technical Reports Server (NTRS)

    Pendergrass, LeRuth Q.

    1995-01-01

    This work provides the information for fabricating Fabry-Perot Interferometer sensors and their performances. The Fabry-Perot Interferometer sensors developed here will be used for the detection of flaws in aircraft structures. The sequel also contains discussion of the experimental setups for the Ultrasonic technique and the Fabry-Perot Interferometer.

  2. 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

  3. 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

  4. 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

  5. Fabry-Pérot interferometry for long range displacement sensing.

    PubMed

    Thurner, Klaus; Braun, Pierre-François; Karrai, Khaled

    2013-09-01

    We investigate different optical configurations of a low-finesse Fabry-Pérot interferometer used for displacement sensing. The different configurations of the Fabry-Pérot cavity are selected in order to achieve large measurement ranges and angular alignment tolerances and to make the interferometer applicable for targets of various reflectivity ranges. The possible working ranges and angular alignment tolerances are characterized with respect to the interference contrast which is a measure for the signal quality. The use of a confocal arrangement enables a measurement range of up to about 0.4 m, or to work with an angular tolerance of more than ±0.2°. In order to predict the optical response of arbitrary configurations of the Fabry-Pérot interferometer, we introduce a simulation method based on the Airy formula and the fiber optic coupling efficiency.

  6. 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

  7. 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.

  8. Novel tunable Fabry-Perot filters for FBG sensing system

    NASA Astrophysics Data System (ADS)

    Wu, Wei; Tong, Xinglin; Liu, Xin; Chen, Ting

    2008-12-01

    Tunable filters with a wide tunable rang have been found wide applications and be the key component in fiber optical communication system and fiber sensor system. It is hard to fabricate a fiber Fabry-Perot tunable filter. In this paper, the principles of Fabry-Perot filter is introduced, and a novel tunable Fabry-Perot filter is designed and fabricated. The fabricated process of the tunable filter is described and the transmission spectrum of tunable F-P filter in experiment is given and discussed. The tunable F-P filter has the advantages of simple structure, low modulated voltage and cost effectiveness. The filter can be applied to wavelength interrogation in fiber Bragg grating (FBG) sensing system to detect the drift of the fiber Bragg wavelength.

  9. Infanticide in female forensic patients: the view from the evolutionary standpoint.

    PubMed

    Stone, Michael H; Steinmeyer, Eckhard; Dreher, Jan; Krischer, Maya

    2005-01-01

    Evolutionary theory predicts that very young mothers would be more likely to kill an infant than older women, given that the younger mother has a much greater ability to "replace" the dead child through subsequent pregnancies and thus to produce offspring for the next generation. Evolutionary theory also predicts that a woman would be more likely to kill a child if the child was obviously defective, the pregnancy was the result of incest or rape, or if the mother's means of supporting the child were severely compromised. The authors hypothesized that mentally ill mothers would behave in a way that differed significantly from evolutionary expectations, i.e., that they would be more likely to kill children who were older than those killed by mothers in the general population and that the mothers themselves would be likely to be older than mothers in the general population when the murders occurred. To test this hypothesis, the authors compared infanticides (both filicides and neonaticides) committed by mentally ill mothers with those committed by mothers in the general population. They examined two samples: 1) all cases of maternal infanticide from the Mid-Hudson Forensic Psychiatric Hospital from 1978 (when the hospital began admitting female patients) through the year 2000 and 2) a general population sample from a 10-year Canadian study reported by Daly and Wilson in 1998. The authors focused on the following variables: ages of the mothers, ages of the child-victims, whether the pregnancy was the result of rape or incest, whether the child had significant behavioral or physical problems, and whether there were problems supporting the child (e.g., having no partner, poverty, mother's lack of education). The results of the analyses supported the authors' hypothesis about ages of mothers and children. The mentally ill mothers in the Mid-Hudson sample were generally older when they killed their children and the children who were killed were generally older than in the

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

    PubMed

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

    2016-05-01

    [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

  11. 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

  12. 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.

  13. Sapphire-fiber-based intrinsic Fabry-Perot interferometer

    NASA Technical Reports Server (NTRS)

    Wang, Anbo; Gollapudi, Sridhar; Murphy, Kent A.; May, Russell G.; Claus, Richard O.

    1992-01-01

    A sapphire optical fiber intrinsic Fabry-Perot interferometric sensor is demonstrated. A length of multimode sapphire fiber that functions as a Fabry-Perot cavity is spliced to a silica single-mode fiber. The interferometric signals of this sensor are produced by the interference between the reflection from the silica-sapphire fiber splice and the reflection from the free end face of the sapphire fiber. This sensor has been demonstrated for temperature measurement. A resolution of 0.2 C has been obtained over a measurement range of 310 C to 976 C.

  14. Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

    PubMed

    Sano, Shinichiro; Matsubara, Keiko; Nagasaki, Keisuke; Kikuchi, Toru; Nakabayashi, Kazuhiko; Hata, Kenichiro; Fukami, Maki; Kagami, Masayo; Ogata, Tsutomu

    2016-08-01

    Although recent studies have often revealed the presence of multilocus imprinting disturbance (MLID) at differentially methylated regions (DMRs) in patients with imprinting disorders (IDs), most patients exhibit clinical features of the original ID only. Here we report a Japanese female patient with Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib. Molecular studies revealed marked methylation defects (MDs) at the Kv-DMR and the GNAS-DMRs and variable MDs at four additional DMRs, in the absence of a mutation in ZFP57, NLRP2, NLRP7, KHDC3L and NLRP5. It is likely that the MDs at the Kv-DMR and the GNAS-DMRs were sufficient to cause clinically recognizable IDs, whereas the remaining MDs were insufficient to result in clinical consequences or took place at DMRs with no disease-causing imprinted gene(s). The development of MLID and the two IDs of this patient may be due to a mutation in a hitherto unknown gene for MLID, or to a reduced amount of DNA methyltransferase-1 (DNMT1) available for the methylation maintenance of DMRs because of the consumption of DNMT1 by the maintenance of X-inactivation. In support of the latter possibility, such co-existence of two IDs has primarily been identified in female patients, and MLID has predominantly been identified as loss of methylations.

  15. Cervical Cancer Screening for Patients on the Female-to-Male Spectrum: a Narrative Review and Guide for Clinicians.

    PubMed

    Potter, Jennifer; Peitzmeier, Sarah M; Bernstein, Ida; Reisner, Sari L; Alizaga, Natalie M; Agénor, Madina; Pardee, Dana J

    2015-12-01

    Guidelines for cervical cancer screening have evolved rapidly over the last several years, with a trend toward longer intervals between screenings and an increasing number of screening options, such as Pap/HPV co-testing and HPV testing as a primary screening. However, gynecological recommendations often do not include clinical considerations specific to patients on the female-to-male (FTM) spectrum. Both patients and providers may not accurately assess risk for HPV and other sexually transmitted infections, understand barriers to care, or be aware of recommendations for cervical cancer screening and other appropriate sexual and reproductive health services for this patient population. We review the evidence and provide guidance on minimizing emotional discomfort before, during, and after a pelvic exam, minimizing physical discomfort during the exam, and making adaptations to account for testosterone-induced anatomical changes common among FTM patients.

  16. 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

  17. Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.

    PubMed

    Arends, Maarten; Linthorst, Gabor E; Hollak, Carla E; Biegstraaten, Marieke

    2016-02-01

    Fabry disease (FD) is a progressive, multi-organ, lysosomal storage disease. Enzyme replacement therapy (ERT) is available for the treatment of the disease. While the reasons to initiate ERT have been frequently discussed, discontinuation of ERT is rarely reported. In this paper we describe our experiences with stopping ERT in FD. From 1999 through 2015, twenty-one patients discontinued ERT. These patients were generally older and more severely affected in comparison those who continued ERT. The reason to discontinue ERT switched from death or terminal illness in the first years towards treatment failure in more recent years. Three cases are described in more detail. We conclude that discontinuation of ERT should or may be considered in subgroups of FD patients although further studies on the effectiveness of ERT in subgroups of patients and the course of the disease after discontinuation of ERT are needed. PMID:26654842

  18. 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.

  19. Worse health-related quality of life and hip function in female patients with elevated chromium levels

    PubMed Central

    Hussey, Daniel K; Madanat, Rami; Donahue, Gabrielle S; Rolfson, Ola; Muratoglu, Orhun K; Malchau, Henrik

    2016-01-01

    Background and purpose Blood metal ion levels can be an indicator for detecting implant failure in metal-on-metal (MoM) hip arthroplasties. Little is known about the effect of bilateral MoM implants on metal ion levels and patient-reported outcomes. We compared unilateral patients and bilateral patients with either an ASR hip resurfacing (HR) or an ASR XL total hip replacement (THR) and investigated whether cobalt or chromium was associated with a broad spectrum of patient outcomes. Patients and methods From a registry of 1,328 patients enrolled in a multicenter prospective follow-up of the ASR Hip System, which was recalled in 2010, we analyzed data from 659 patients (311 HR, 348 THR) who met our inclusion criteria. Cobalt and chromium blood metal ion levels were measured and a 21-item patient-reported outcome measures (PROMs) questionnaire was used mean 6 years after index surgery. Results Using a minimal threshold of ≥7 ppb, elevated chromium ion levels were found to be associated with worse health-related quality of life (HRQoL) (p < 0.05) and hip function (p < 0.05) in women. These associations were not observed in men. Patients with a unilateral ASR HR had lower levels of cobalt ions than bilateral ASR HR patients (p < 0.001) but similar levels of chromium ions (p = 0.09). Unilateral ASR XL THR patients had lower chromium and cobalt ion levels (p < 0.005) than bilateral ASR XL THR patients. Interpretation Chromium ion levels of ≥7 ppb were associated with reduced functional outcomes in female MoM patients. PMID:27459602

  20. 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…

  1. 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

  2. Clinical and microscopic signs of cervicitis and urethritis: correlation with Chlamydia trachomatis infection in female STI patients.

    PubMed

    Berntsson, Matilda; Tunbäck, Petra

    2013-03-27

    Chlamydia trachomatis is among the most prevalent genital infections and is an important cause of tubal factor infertility. The majority of infected females are asymptomatic. Evidence on the reliability of signs of inflammation used to predict chlamydia in female patients is inconsistent. This study examined associations between criteria routinely used in many Scandinavian sexually transmitted infection (STI) clinics and a positive chlamydia test in a high-prevalence population. Clinical and microscopic signs of cervicitis and urethritis were recorded in 99 women attending due to chlamydia infection in a sexual partner. Mucopurulent cervical discharge, easily induced bleeding from the cervix, and more polymorpho-nuclear cells than epithelial cells in vaginal wet smear all correlated significantly with a positive Chlamydia trachomatis test (odds ratios: 3.4, 4.0 and 4.8, respectively). Increased numbers of polymorphonuclear leucocytes (>30 and ≥ 5 respectively) in stained cervical and urethral smears were not significantly correlated with chlamydia infection. Hence, routine collection of cervical and urethral smears in female STI patients is questionable.

  3. [Globosides as key players in the pathophysiology of Shiga toxin-associated acute kidney failure and Fabry disease].

    PubMed

    Porubsky, S

    2014-11-01

    Globosides and their isomeric counterparts isoglobosides belong to the class of neutral glycosphingolipids with an as yet undefined physiological function. In the pathogenesis of human diseases, globosides play an important role as cellular receptors for Shiga toxins which are produced by certain strains of S. dysenteriae and E. coli. In order to elucidate the pathogenesis of Shiga toxin-associated kidney failure, we studied human kidney biopsies and animal models. Our work showed that in patients suffering from Shiga toxin-elicited kidney failure, no complement activation could be demonstrated by immunohistochemical analysis of kidney biopsies. Therefore, complement activation is unlikely to play a major role in mediating thrombotic microangiopathy on exposure to Shiga toxin. Moreover, analysis of the human biopsies and of a murine model of Shiga toxin-associated disease pinpointed acute tubular damage as an important and previously neglected contributor to acute kidney failure in patients infected with Shiga toxin-producing E. coli. Furthermore, globosides play a decisive role in the pathogenesis of Fabry disease which results from a decreased or absent activity of the lysosomal enzyme α-galactosidase A. The results on transgenic mice showed that in vital organs, such as the heart, kidneys and liver, it was possible to revert the phenotype of Fabry disease by eliminating the synthesis of globosides. This implicates that substrate reduction therapy through inhibition of globosides might represent a new therapeutic option for Fabry disease, all the more so as globosides seem to be dispensable.

  4. 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.

  5. 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.

  6. 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)

  7. 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.

  8. 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

  9. 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.

  10. Production in yeast of alpha-galactosidase A, a lysosomal enzyme applicable to enzyme replacement therapy for Fabry disease.

    PubMed

    Chiba, Yasunori; Sakuraba, Hitoshi; Kotani, Masaharu; Kase, Ryoichi; Kobayashi, Kazuo; Takeuchi, Makoto; Ogasawara, Satoshi; Maruyama, Yutaka; Nakajima, Tasuku; Takaoka, Yuki; Jigami, Yoshifumi

    2002-12-01

    A mammalian-like sugar moiety was created in glycoprotein by Saccharomyces cerevisiae in combination with bacterial alpha-mannosidase to produce a more economic enzyme replacement therapy for patients with Fabry disease. We introduced the human alpha-galactosidase A (alpha-GalA) gene into an S. cerevisiae mutant that was deficient in the outer chains of N-linked mannan. The recombinant alpha-GalA contained both neutral (Man(8)GlcNAc(2)) and acidic ([Man-P](1-2)Man(8)GlcNAc(2)) sugar chains. Because an efficient incorporation of alpha-GalA into lysosomes of human cells requires mannose-6-phosphate (Man-6-P) residues that should be recognized by the specific receptor, we trimmed down the sugar chains of the alpha-GalA by a newly isolated bacterial alpha-mannosidase. Treatment of the alpha-GalA with the alpha-mannosidase resulted in the exposure of a Man-6-P residue on a nonreduced end of oligosaccharide chains after the removal of phosphodiester-linked nonreduced-end mannose. The treated alpha-GalA was efficiently incorporated into fibroblasts derived from patients with Fabry disease. The uptake was three to four times higher than that of the nontreated alpha-GalA and was inhibited by the addition of 5 mM Man-6-P. Incorporated alpha-GalA was targeted to the lysosome, and hydrolyzed ceramide trihexoside accumulated in the Fabry fibroblasts after 5 days. This method provides an effective and economic therapy for many lysosomal disorders, including Fabry disease.

  11. Surveillance of female patients with inherited bleeding disorders in United States Haemophilia Treatment Centres

    PubMed Central

    Byams, V. R.; Kouides, P. A.; Kulkarni, R.; Baker, J. R.; Brown, D. L.; Gill, J. C.; GRANT, A. M.; James, A. H.; Konkle, B. A.; Maahs, J.; Dumas, M. M.; McAlister, S.; Nance, D.; Nugent, D.; Philipp, C. S.; Soucie, J. M.; Stang, E.

    2015-01-01

    Summary Inherited bleeding disorders are especially problematic for affected girls and women due to the monthly occurrence of menstrual periods and the effects on reproductive health. Although heavy menstrual bleeding (HMB) is the most common manifestation, females with inherited bleeding disorders (FBD) experience other bleeding symptoms throughout the lifespan that can lead to increased morbidity and impairment of daily activities. The purpose of this article is to describe the utility of a female-focused surveillance effort [female Universal Data Collection (UDC) project] in the United States Haemophilia Treatment Centres (HTCs) and to describe the baseline frequency and spectrum of diagnoses and outcomes. All FBD aged 2 years and older receiving care at selected HTCs were eligible for enrolment. Demographic data, diagnoses and historical data regarding bleeding symptoms, treatments, gynaecological abnormalities and obstetrical outcomes were analysed. Analyses represent data collected from 2009 to 2010. The most frequent diagnoses were type 1 von Willebrand’s disease (VWD) (195/319; 61.1%), VWD type unknown (49/319; 15.4%) and factor VIII deficiency (40/319; 12.5%). HMB was the most common bleeding symptom (198/253; 78.3%); however, 157 (49.2%) participants reported greater than four symptoms. Oral contraceptives were used most frequently to treat HMB (90/165; 54.5%), followed by desmopressin [1–8 deamino-D-arginine vasopressin (DDAVP)] (56/165; 33.9%). Various pregnancy and childbirth complications were reported, including bleeding during miscarriage (33/43; 76.7%) and postpartum haemorrhage (PPH) (41/109; 37.6%). FBD experience multiple bleeding symptoms and obstetrical-gynaecological morbidity. The female UDC is the first prospective, longitudinal surveillance in the US focusing on FBD and has the potential to further identify complications and reduce adverse outcomes in this population. PMID:21692922

  12. 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

  13. 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.

  14. 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

  15. Risk factors for osteoporosis in female patients with systemic lupus erythematosus.

    PubMed

    Di Munno, O; Mazzantini, M; Delle Sedie, A; Mosca, M; Bombardieri, S

    2004-01-01

    In the last years it has been recognized that patients with systemic lupus erythematosus (SLE) are at high risk of osteoporosis (OP) and fractures, both occurring through disease-specific (chronic arthritis, reduced physical activity, induction of cytokines promoting bone resorption, renal impairment, endocrine factors) and nondisease-specific mechanisms (sunshine avoidance with consequent vitamin D deficiency, glucocorticoids, immunosuppressants and chronic anticoagulants). Regarding anticoagulants, subcutaneous heparin is crucial against the risk of recurrent thromboembolism or pregnancy loss, specifically in patients with SLE and anti-phospholipid syndrome (APS). Thus heparin-induced OP represents one of the hazards of this treatment, first because heparin must be used long-term and secondly because pregnancy and lactation themselves may predispose to OP and fractures. Current data suggest the use of prophylaxis with calcium and vitamin D in all patients treated with heparin during pregnancy. Nevertheless glucocorticoid-induced OP (GIOP) is considered the most serious risk factor for OP and fractures in SLE patients. All guidelines recommend general measures and supplementation with calcium and vitamin D in all patients. However when considering premenopausal patients, there is no generally recommended treatment. Bisphosphonates, which are considered the first choice therapy for the prevention and treatment of GIOP, should be used 'cautiously' in these patients. Therefore the potential risks and lack of efficacy data on fracture risk reduction in premenopausal patients must be weighed against their proven efficacy in postmenopausal patients.

  16. Breast cancer in male-to-female (MtF) transgender patients: is hormone receptor negativity a feature?

    PubMed

    Teoh, Zhi Hao; Archampong, David; Gate, Tim

    2015-05-20

    A 41-year-old male-to-female (MtF) transgender patient presented with a symptomatic tender lump in the left breast. There was no family history of breast cancer. She had been receiving estrogen therapy for 14 years to maintain her secondary sexual characteristics. Triple assessment revealed a 13 mm triple-negative grade 3 invasive ductal carcinoma. The tumour was completely excised following a left wide local excision and sentinel lymph node biopsy. There was no regional lymph node involvement. She was referred to the oncologist for adjuvant chemotherapy and radiotherapy.

  17. Peripheral ivory osteoma of the mandible in a young female patient.

    PubMed

    Mubeen, Khan; Vijayalakshmi, Konaajji Ramachandra; Abhishek, Pati Ranjan

    2012-05-01

    Osteoma is an uncommon benign neoplasm composed of mature bone. Growth is slow and continuous and located principally in the cranio-maxillo-facial region, and can be central (endosteal) or peripheral (periosteal). Osteomas can be solitary or multiple masses, and they are generally asymptomatic. We discuss a case of ivory osteoma of the mandible in a 35-year-old female, which was present at the left body of the mandible since she was 10 years old, and was gradually increasing in size. The osteoma was removed surgically through an intraoral approach, and no recurrence was observed.

  18. Eating attitudes of anorexia nervosa, bulimia nervosa, binge eating disorder and obesity without eating disorder female patients: differences and similarities.

    PubMed

    Alvarenga, M S; Koritar, P; Pisciolaro, F; Mancini, M; Cordás, T A; Scagliusi, F B

    2014-05-28

    The objective was to compare eating attitudes, conceptualized as beliefs, thoughts, feelings, behaviors and relationship with food, of anorexia nervosa (AN), bulimia nervosa (BN) and binge eating disorder (BED) patients and a group of obese (OBS) without eating disorders (ED). Female patients from an Eating Disorder (ED) Unit with AN (n=42), BN (n=52) and BED (n=53) and from an obesity service (n=37) in Brazil answered the Disordered Eating Attitude Scale (DEAS) which evaluate eating attitudes with 5 subscales: relationship with food, concerns about food and weight gain, restrictive and compensatory practices, feelings toward eating, and idea of normal eating. OBS patients were recruited among those without ED symptoms according to the Binge Eating Scale and the Questionnaire on Eating and Weight Patterns. ANOVA was used to compare body mass index and age between groups. Bonferroni test was used to analyze multiple comparisons among groups. AN and BN patients presented more dysfunctional eating attitudes and OBS patients less dysfunctional (p<0.001). For DEAS total score, AN and BN patients were similar and all other were different (p<0.001). Similarities suggested between BN and BED were true just for the "Relationship with food" and "Idea of normal eating." BED patients were worst than OBS for "Relationship with food" and as dysfunctional as AN patients - besides their behavior could be considered the opposite. Differences and similarities support a therapeutic individualized approach for ED and obese patients, call attention for the theoretical differences between obesity and ED, and suggest more research focused on eating attitudes.

  19. 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.

  20. Management of a rare case of idiopathic multiple unerupted impacted permanent teeth in an adult female patient.

    PubMed

    Shetty, Karunakar; Kumar, Mahesh; Amanna, Susan; Sridharan, Srirangarajan; Reddy, Satyanarayan

    2016-01-01

    This clinical case report describes the multi-disciplinary approach in the management of an unusual presentation of idiopathic multiple unerupted impacted permanent teeth in a 20-year-old female patient. The case was unique in that, not only were there multiple missing permanent teeth, but also over retained deciduous teeth and attrited existing permanent teeth with loss of vertical dimension of occlusion. Since the patient was young, it was decided to retain all the erupted permanent teeth and extract the infected deciduous teeth with the objective of fabricating overlay complete dentures. This is a simple, reversible and an economical treatment modality, which satisfies both the esthetic and functional demands where the extraction of teeth is not generally indicated and, in addition, provides a stable occlusion. PMID:27621553

  1. Correlation of sex steroid and gonadotropin levels with body mass index in underweight and overweight female patients.

    PubMed

    Chikvaidze, N; Khristesashvili, J; Gegechkori, M

    2014-11-01

    Both extreme underweight or overweight negatively affects reproductive health, but evidence is inconsistent in terms of mechanisms by which low or high BMI causes reproductive problems. The aim of our study was to investigate associations of sex steroids and gonadotropins with BMI in underweight and overweight patients since childhood. In this study 48 underweight and 55 overweight/obese females underwent full clinical-hormonal analyses. Polycystic ovarian syndrome and metabolic syndrome was the most frequent in overweight and obese patients, whilst non-classical congenital adrenal hyperplasia and ovarian dysfunction prevailed in underweight patients (P=.000). FSH (P=.013) and SHBG (P=.000) levels were higher in patients with low BMI, whilst FT (p=.019) and TT (p=.003) levels were higher in high BMI patients. No difference was found in terms of AMH (P>.05). BMI negatively correlated with FSH (P=.009) and SHBG (P=.001) and positively correlated with FT (P=.001) and TT (P=.002). So sex steroid and gonadotropin levels are determined by particular reproductive disorders, which are associated to childhood BMI and progression of BMI changes.

  2. 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

  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. 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.

  5. 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

  6. 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

  7. Indoor Tanning, Skin Cancer and the Young Female Patient: A Review of the Literature.

    PubMed

    Friedman, Blake; English, Joseph C; Ferris, Laura K

    2015-08-01

    Young, non-Hispanic white females represent the population most likely to use indoor tanning facilities. This population may be at increased risk of skin cancer as recent meta-analyses support a strong association between cutaneous malignancy and indoor tanning. Public perception of the purported health benefits of indoor tanning may be partially to blame for the popularity of tanning salons as a desire to prepare skin prior to sun exposure is among the most commonly cited motivations for indoor tanning. Improving education and counseling to address misconceptions regarding tanning safety will require the participation of healthcare providers for both physical and psychological screenings as well as for information dissemination. This review presents the association between tanning bed use and skin cancer, biological effects of UV radiation exposure, UV burden associated with tanning devices, public perception of tanning, demographic and psychological profile of indoor tanners, and current legislation regulating tanning bed use.

  8. [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.

  9. Deliberate self-harm in female patients with affective disorders: investigation of personality structure and affect regulation by means of operationalized psychodynamic diagnostics.

    PubMed

    Boeker, Heinz; Himmighoffen, Holger; Straub, Miriam; Schopper, Christian; Endrass, Jerome; Kuechenhoff, Bernhard; Weber, Silvan; Hell, Daniel

    2008-10-01

    This study investigated psychodynamically relevant dimensions in female depressive patients with and without deliberate self-harm (DSH). DSH is often observed in depressive patients and frequently shows a correlation with personality disorders. Forty female depressive patients with and without DSH were investigated after recovery from acute depressive pathology by means of "operationalized psychodynamic diagnostics" (OPD). Patients with DSH had a significantly lower level of integration in the OPD dimension "structure," and their "interpersonal relationships" showed dysfunctional interaction patterns. They also had a significantly higher rate of personality disorders. These results underline the significance of aspects of personality structure in female depressive patients with DSH, and enable a deeper understanding of their dysfunctional defense strategies, the connections with underlying disturbed affect regulation, and vicious circles in the therapeutic transference-countertransference relationship. OPD has been shown to be a useful tool for empirical research into therapeutically relevant dimensions of personality.

  10. Subjective Motives for Requesting In-Patient Treatment in Female with Anorexia Nervosa: A Qualitative Study

    PubMed Central

    Gorse, Pauline; Nordon, Clementine; Rouillon, Frederic; Pham-Scottez, Alexandra; Revah-Levy, Anne

    2013-01-01

    Background Anorexia nervosa is a severe psychiatric disorder mainly affecting women. Its treatment is long and accepted with much difficulty, in particular in-patient treatment. Aims To describe the subjective motives of women with anorexia nervosa for requesting in-patient admission, from a qualitative analysis of application letters. Methods Participants were adult women (18 years and older) with anorexia nervosa who were admitted as in-patients in a referral hospital unit in France from January 2008 to December 2010. The application letters, prerequisites to admission, were studied by the interpretative phenomenological method of content analysis. Results 63 letters have been analysed, allowing the identification of six themes related to requests for in-patient care: loss of control of behaviour, and of thoughts, mental exhaustion, isolation, inner struggle and fear of recovery. Conclusions Requests for in-patient admission were motivated by very personal, subjective experiences, unrelated to medical reasons for admission. These results may help improve pre-admission motivational work with individuals, by basing it on their subjective experience. PMID:24204951

  11. Micromolecular multiple myeloma with chronic kidney failure in a young female patient on continuous hemodialysis.

    PubMed

    Rotaru, Ionela; Badea, M; Tănase, Alina Daniela; Foarfă, Camelia

    2013-01-01

    The maximum incidence of multiple myeloma appears in the 6th-7th decade of life and although the number of patients aged les than 60 years is increasing in recent years, the diagnosis of a monoclonal gammopathy in a young patient, under the age of 40 years remains a rarity. Literature data cite an incidence of approximately 2.2% in patients less than 40-year-old and an incidence of 0.3% in patients less than 30-year-old of all cases diagnosed with multiple myeloma. We present the case of a 32-year-old patient, being on continuous hemodialysis for chronic kidney failure for about a year, at the Hematology Clinic of Craiova, Romania. We investigate the origin of a serum monoclonal component revealed when performing serum protein electrophoresis. Bone marrow examination revealed the presence of a plasma cell infiltrate of 18%, which associated with the presence of a serum monoclonal component and in the conditions of renal failure as a complication of the disease, has allowed the diagnosis of multiple myeloma.

  12. 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.

  13. 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

  14. 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

  15. 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.

  16. Curvature sensor based on a Fabry-Perot interferometer

    NASA Astrophysics Data System (ADS)

    Monteiro, Catarina; Ferreira, Marta S.; Kobelke, Jens; Schuster, Kay; Bierlich, Jörg; Frazão, Orlando

    2016-05-01

    A curvature sensor based on a Fabry-Perot interferometer is proposed. A capillary tube of silica is fusion spliced between two single mode fibers, producing a Fabry-Perot cavity. The light propagates in air, when passing through the capillary tube. Two different cavities are subjected to curvature and temperature. The cavity with shorter length shows insensitivity to both measurands. The larger cavity shows two operating regions for curvature measurement, where a linear response is shown, with a maximum sensitivity of 18.77pm/m-1 for the high curvature radius range. When subjected to temperature, the sensing head produces a similar response for different curvature radius, with a sensitivity of 0.87pm/°C.

  17. 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.

  18. 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.

  19. Principle and applications of Faraday-Fabry-Perot cavity

    NASA Astrophysics Data System (ADS)

    Di, Nan; Zhao, Jianlin

    2010-10-01

    A Faraday-Fabry-Perot (FFP) cavity, composed of an Fabry-Perot (FP) cavity and a piece of Faraday magneto-optical material, is presented. The principle of FFP cavity and its polarization modulation effect are described by use of optical matrix analysis. The result shows that the Faraday rotation is able to be magnified by more than two orders of magnitude in resonant FFP cavity, while different elliptically polarized lights are obtained in non-resonant cavity. Furthermore two novel applications, that is, optical isolator based on passive FFP cavity (FOI) and Faraday-Zeeman dual-frequency laser (FZDL) based on active FFP cavity whose eigen modes operate as circularly polarized lights and whose frequency difference can be adjusted continuously by magnetic field, are introduced. The principles, typical parameters and performance characteristics are analyzed in both applications.

  20. 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

  1. Orthogonal Fabry-Pérot sensors for photoacoustic tomography

    NASA Astrophysics Data System (ADS)

    Ellwood, R.; Ogunlade, O.; Zhang, E. Z.; Beard, P. C.; Cox, B. T.

    2016-03-01

    Fabry-Pérot (FP) sensors have been used to produce in-vivo photoacoustic images of exquisite quality. However, for simplicity of construction FP sensors are produced in a planar form. Planar sensors suffer from a limited detection aperture, due to their planarity. We present a novel sensor geometry that allowed a greater field of view by placing a second sensor orthogonal to the first. This captured data from the deeper lying regions of interest and mitigated the limited view.

  2. Radiological evaluation by magnetic resonance of the 'new anatomy' of transsexual patients undergoing male to female sex reassignment surgery.

    PubMed

    Brunocilla, E; Soli, M; Franceschelli, A; Schiavina, R; Borghesi, M; Gentile, G; Pultrone, C V; Martorana, G; Orrei, M G; Colombo, F

    2012-09-01

    Magnetic resonance (MR) is the best way to assess the new anatomy of the pelvis after male to female (MtF) sex reassignment surgery. The aim of the study was to evaluate the radiological appearance of the small pelvis after MtF surgery and to compare it with the normal women's anatomy. Fifteen patients who underwent MtF surgery were subjected to pelvic MR at least 6 months after surgery. The anthropometric parameters of the small pelvis were measured and compared with those of ten healthy women (control group). Our personal technique (creation of the mons Veneris under the pubic skin) was performed in all patients. In patients who underwent MtF surgery, the mean neovaginal depth was slightly superior than in women (P=0.009). The length of the inferior pelvic aperture and of the inlet of pelvis was higher in the control group (P<0.005). The inclination between the axis of the neovagina and the inferior pelvis aperture, the thickness of the mons Veneris and the thickness of the rectovaginal septum were comparable between the two study groups. MR consents a detailed assessment of the new pelvic anatomy after MtF surgery. The anthropometric parameters measured in our patients were comparable with those of women.

  3. 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

  4. Distribution of Risk Factors in Male and Female Primary Health Care Patients with Osteoarthritis in Albania

    PubMed Central

    Hoxha, Fatos; Tafaj, Argjent; Roshi, Enver; Burazeri, Genc

    2015-01-01

    Aim: We aimed to describe the distribution of the main risk factors among primary health care users diagnosed with osteoarthritis in Albania, a post-communist country in South Eastern Europe. Methods: Our study involved all individuals who were diagnosed with osteoarthritis over a two-year period (January 2013 – December 2014) in several primary health care centers in Tirana, the Albanian capital. On the whole, during this two-year period, 1179 adult individuals were diagnosed with osteoarthritis (521 men aged 60.1±10.6 years and 658 women aged 58.1±9.6 years). According to the criteria of the American College of Rheumatology, the diagnosis of osteoarthritis was based on the history of the disease, physical examination, laboratory findings and radiological findings. Binary logistic regression was used to assess the sex-differences regarding the major risk factors among individuals diagnosed with osteoarthritis. Results: In multivariable-adjusted logistic regression models, female gender was inversely associated with smoking (OR=0.39, 95%CI=0.27-0.56), alcohol intake (OR=0.08, 95%CI=0.06-0.10), overweight but not obesity (OR=0.65, 95%CI=0.46-0.91 and OR=0.74, 95%CI=0.46-1.18, respectively), weight lifting (OR=0.38, 95%CI=0.22-0.66) and heavy physical exercise (OR=0.69, 95%CI=0.46-1.03). Conversely, female gender was positively related to genetic factors (OR=2.17, 95%CI=1.55-3.04) and preexisting inflammatory diseases (OR=1.53, 95%CI=0.93-2.53). Conclusion: This study offers useful evidence about the distribution of the main risk factors for osteoarthritis in adult individuals diagnosed with osteoarthritis in Albania. This information may support health professionals and decision-makers in Albania for evidence-based health planning and policy formulation in order to control the toll of osteoarthritis in this transitional society. PMID:26261379

  5. 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

  6. 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

  7. Hashimoto's thyroiditis and acute chest syndrome revealing sickle cell anemia in a 32 years female patient.

    PubMed

    Igala, Marielle; Nsame, Daniela; Ova, Jennie Dorothée Guelongo Okouango; Cherkaoui, Siham; Oukkach, Bouchra; Quessar, Asmae

    2015-01-01

    Sickle cell anemia results from a single amino acid substitution in the gene encoding the β-globin subunit. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. Hashimoto's thyroiditis is a common thyroid disease now recognized as an auto-immune thyroid disorder, it is usually thought to be haemolytic autoimmune anemia. We report the case of a 32 years old women admitted for chest pain and haemolysis anemia in which Hashimoto's thyroiditis and sickle cell anemia were found. In our observation the patient is a young woman whose examination did not show signs of goitre but the analysis of thyroid function tests performed before an auto-immune hemolytic anemia (confirmed by a high level of unconjugated bilirubin and a Coombs test positive for IgG) has found thyroid stimulating hormone (TSH) and positive thyroid antibody at rates in excess of 4.5 times their normal value. In the same period, as the hemolytic anemia, and before the atypical chest pain and anguish they generated in the patient, the search for hemoglobinopathies was made despite the absence of a family history of haematological disease or painful attacks in childhood. Patient electrophoresis's led to research similar cases in the family. The mother was the first to be analyzed with ultimately diagnosed with sickle cell trait have previously been ignored. This case would be a form with few symptoms because the patient does not describe painful crises in childhood or adolescence. PMID:26327979

  8. 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.

  9. Hair thyroid hormones concentration in patients with depression changes with disease episodes in female Chinese.

    PubMed

    Wei, Jinxue; Sun, Guizhi; Zhao, Liansheng; Liu, Xiang; Lin, Dongtao; Li, Tao; Ma, Xiaohong

    2014-12-15

    Abnormal function of thyroid and deregulation of level of blood thyroid hormones, including triiodothyronine (T3) and thyroxine (T4), have been observed in patients with major depression. Nevertheless, no consistent conclusion can be drawn from previous reports. Hair hormones reflect average hormones levels in a certain period and have been involved in the studies of psychiatric diseases. However, no research has elucidated the relation between hair thyroid hormones level and depression. In the present study, we explored the correlation between thyroid hormones and major depression by analyzing and comparing the levels of hair thyroid hormones in patients with depression (n=30) and healthy controls (n=30). Our results showed that the levels of hair T3 and T4 were significantly lower in patients with depression in disease episode than that in pre-disease episode or in healthy controls. Moreover, patients with depression in pre-disease episode had a higher hair T4 level than healthy controls. No significant correlation was observed between hair T3 or T4 levels and the Hamilton depression rating scale and Hamilton anxiety rating scale scores. Our results indicate that hair thyroid hormones levels change with the episodes of depressions, which may be helpful for pathological studies of depression.

  10. Cardiac Surgery is Safe in Female Patients with a History of Breast Cancer

    PubMed Central

    Sommer, Stefanie; Aleksić, Ivan; Schimmer, Christoph; Schmidt-Hengst, Elisa; Leyh, Rainer G.; Sommer, Sebastian-Patrick

    2016-01-01

    Purpose: In cardiac surgery candidates, a concomitant history of breast cancer suggests adverse outcomes. The possibility of internal mammary artery (IMA) utilization and its patency rate is frequently discussed. Secondary, blood loss and wound related infections might be important issues. However, publications focusing on these issues are limited. Methods: We analyzed 32 patients with previously treated breast cancer undergoing cardiac bypass (CABG) and combined CABG surgery matched to 99 control subjects in a retrospective cohort study. Patients were analyzed regarding IMA utilization, blood loss and substitution and frequent perioperative complications as well as long-term mortality. Results: No significant differences between groups were observed regarding duration of surgery, IMA-utilization, incidence of infections and postoperative complications or mortality. A pronounced decline of hemoglobin/hematocrit was evident within the first 6 postoperative hours (3.3 ± 1.8 vs. 2.5 ± 1.8 mg/dl; p = 0.03) in breast cancer patients not related to an increased drainage loss but associated with an increase of international normalized ratio (INR) (0.39 ± 0.16 vs. 0.29 ± 0.24; p <0.01). Conclusion: In breast cancer patients, CABG and combined CABG procedures can safely be performed with comparable short- and long-term results. PMID:27181390

  11. 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.

  12. Clinical and biochemical determinants of bone metabolism and bone mass in adolescent female patients with anorexia nervosa.

    PubMed

    Audí, Laura; Vargas, Deisi M; Gussinyé, Miquel; Yeste, Diego; Martí, Gertrudis; Carrascosa, Antonio

    2002-04-01

    Among pathologies prevalent in western societies, anorexia nervosa has increased over the last decade. Its effects on bone mass need to be defined, and prognostic factors, either clinical or biochemical, could aid clinicians in individual patient management. To determine which clinical and/or biochemical parameters could be related to bone mass status in adolescent female anorexia nervosa patients, 73 female patients were classified according to different stages of their illness and studied in terms of clinical and biochemical parameters and bone densitometric mineral content at lumbar spine. Patients (age 17.2 +/- 1.7 y, mean +/- SD) with Tanner pubertal stage 5, regular menstruation for more than 3 mo before the onset of secondary amenorrhea, and diagnosed with anorexia nervosa were consecutively studied and classified in three clinical situations: I) active phase (34 patients): undernourished and amenorrheic; II) weight recovered but still amenorrheic (20 patients); III) fully recovered (19 patients). Clinical data were recorded at the time of bone density measurement, concomitant with blood sample extraction for study of IGF-I, IGF-binding protein 3 (IGFBP-3), IGFBP-1, estradiol, sex hormone-binding globulin, dehydroepiandrosterone sulfate, prealbumin, amino-terminal propeptide of procollagen III, osteocalcin, bone alkaline phosphatase, carboxy-terminal propeptide of procollagen I, amino-terminal propeptide of procollagen I, carboxy-terminal telopeptide of collagen I, 25-OH-vitamin D, 1,25(OH)(2)-vitamin D, and parathormone. In addition, a 24-h urine collection was made for cortisol, GH, deoxypyridinoline, amino-terminal telopeptide of collagen I, and calcium and creatinine content analysis. IGF-I, estradiol, and biochemical bone formation markers were higher and IGFBP-1, sex hormone-binding globulin, and biochemical bone resorption markers were lower in the weight-recovered stages (stages II and III) compared with the active phase (stage I). Bone formation

  13. 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

  14. [Acute painful crisis in a female Nigerian patient with sickle cell disease].

    PubMed

    Nin, Sayaka; Seki, Masanori; Maie, Koichiro; Kuroda, Akihiro; Miyamoto, Kana; Ogawa, Shinichi; Ito, Yufu; Kurita, Naoki; Yokoyama, Yasuhisa; Sakata Yanagimoto, Mamiko; Obara, Naoshi; Hasegawa, Yuichi; Ogino, Yasuko; Ito, Takayoshi; Chiba, Shigeru

    2015-01-01

    We report a 38-year-old Nigerian woman with sickle cell disease. Sickle cell disease had been diagnosed when she experienced her first sickle cell crisis episode at age 8 years. Thereafter, she had infrequent minor episodes. She visited a hospital presenting with fever, anemia, jaundice, and systemic pain, and was then transferred to our hospital. Together with rehydration and red blood cell transfusion, analgesics and antibiotics were prescribed, and produced gradual improvement of all symptoms and signs. The patient was discharged on day 9 of hospitalization. Sickle cell crisis is an acute painful episode caused by occlusion of arterioles. The degree of pain and accompanying symptoms, as well as the frequencies of crises, are variable. Moreover, one third of individuals with sickle cell disease never experience a crisis. As our society becomes increasingly globalized, the probabilities of encountering sickle cell disease patients will be higher. PMID:25745965

  15. 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

  16. [Sequential spontaneous coronary artery dissection in a female patient on oral ephedrine].

    PubMed

    Misuraca, Leonardo; Pasqualini, Paola; Baratta, Pasquale; Calabria, Paolo; Picchi, Andrea; Cresti, Alberto; Limbruno, Ugo; Severi, Silva

    2015-09-01

    Spontaneous coronary artery dissection (SCAD) is an infrequent, but not rare, cause of acute coronary syndrome. It mainly affects young women, often with few or no traditional cardiovascular risk factors. In the case described, a 57-year-old woman experienced a first episode of SCAD involving a distal branch of the circumflex coronary artery--treated conservatively--followed, after a few hours, by a second episode of SCAD involving the left anterior descending coronary artery, complicated by hemodynamic instability and treated with emergency angioplasty. During the previous months, the patient was taking a slimming drug containing ephedrine. Dual spontaneous coronary dissection of different type and involving two different vessels, which occurred in the same patient within a few hours, testifies the heterogeneity of the clinical picture of this syndrome and of the therapeutic approach.

  17. 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

  18. 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

  19. Anti-Yo antibody-mediated paraneoplastic cerebellar degeneration in a female patient with pleural malignant mesothelioma.

    PubMed

    Tanriverdi, Ozgur; Meydan, Nezih; Barutca, Sabri; Ozsan, Nazan; Gurel, Duygu; Veral, Ali

    2013-05-01

    Paraneoplastic cerebellar degeneration is a rare non-metastatic complication of malignancies. It presents with acute or subacute onset of ataxia, dysarthria and intention tremor. Paraneoplastic cerebellar degeneration is most commonly associated with malignancies of the ovary, breast and lung. The anti-Yo (anti-Purkinje cells) antibodies that specifically damage the Purkinje cells of the cerebellum are found in the serum and cerebrospinal fluid. Anti-Yo-related paraneoplastic cerebellar degeneration is most commonly found in women with gynecological and breast cancers, but it is reported in other malignancies. Patients with paraneoplastic syndromes most often present with neurologic symptoms before an underlying cancer is detected. We report a case of anti-Yo-related paraneoplastic cerebellar degeneration associated with pleural malignant mesothelioma in a 51-year-old female patient. She presented to our department with a 2-week history after the last chemotherapy of progressive dizziness related to head movement, nausea, vomiting, ataxia and unsteady gait. A western blot assay was negative for anti-Hu, anti-Ri, anti-Ma2, anti-CV2 and anti-amphiphysin paraneoplastic antibody markers but positive for anti-Yo. In conclusion, we report a case of paraneoplastic cerebellar degeneration in a patient with pleural malignant mesothelioma because of the rarity of this neurologic presentation after the diagnosis of malignant mesothelioma and of the association with anti-Yo antibodies.

  20. Spontaneous Bacterial Peritonitis and Anasarca in a Female Patient with Ovarian Hyperstimulation Syndrome Complicated by Respiratory and Kidney Failure

    PubMed Central

    Khalil, Muhammad Abdul Mabood; Ghazni, Muhammad Salman; Tan, Jackson; Naseer, Nazish; Khalil, Muhammad Ashhad Ullah

    2016-01-01

    Ovarian hyperstimulation syndrome (OHSS) was first described in 1960. It may occur as a complication of gonadotropin hormone therapy during assisted pregnancy or for primary infertility. A 26-year-old female patient with polycystic ovarian syndrome and primary infertility was treated to conceive. She received intravenous gonadotropin-releasing hormone (GnRH) along with follicle-stimulating hormone in an outside private clinic. She presented to the emergency department with abdominal and chest pain, loose stool, vomiting, shortness of breath and decreasing urine output. She was found to have edema, ascites, effusion and acute kidney injury (AKI). Considering the symptoms preceding the drug history and anasarca, a diagnosis of severe OHSS was made. Ascites was further complicated by spontaneous bacterial peritonitis (SBP), which had already been reported before. We speculate that low immunity due to decreased immunoglobulin in patients with OHSS makes them prone to SBP. In our case, septicemia secondary to SBP and fluid loss due to capillary leakage from OHSS resulted in AKI and respiratory failure. This critically ill patient was treated in a special care unit, and she fully recovered with supportive measures. Severe OHSS may present as anasarca including ascites which can develop SBP leading to sepsis and multiorgan failure. PMID:27721728

  1. Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research.

    PubMed

    Kaphingst, K A; Janoff, J M; Harris, L N; Emmons, K M

    2006-05-01

    Although social and ethical issues related to the storage and use of biologic specimens for genetic research have been discussed extensively in the medical literature, few empiric data exist describing patients' views. This qualitative study explored the views of 26 female breast cancer patients who had consented to donate blood or tissue samples for breast cancer research. Participants generally did not expect personal benefits from research and had few unprompted concerns. Few participants had concerns about use of samples for studies not planned at the time of consent. Some participants did express concerns about insurance or employment discrimination, while others believed that current privacy protections might actually slow breast cancer research. Participants were generally more interested in receiving individual genetic test results from research studies than aggregate results. Most participants did not want individual results of uncertain clinical significance, although others believed that they should be able to receive such information. These data examined the range of participants' views regarding the storage and use of biologic samples. Further research with different and diverse patient populations is critical to establishing an appropriate balance between protecting the rights of human subjects in genetic research and allowing research to progress.

  2. Patient-Reported Outcomes in Male and Female Collegiate Soccer Players During an Athletic Season

    PubMed Central

    Hoch, Johanna M.; Druvenga, Beth; Ferguson, Brittany A.; Houston, Megan N.; Hoch, Matthew C.

    2015-01-01

    Context  Clinicians are urged to document patient-based outcomes during rehabilitation to measure health-related quality of life (HRQOL) from the patient's perspective. It is unclear how scores on patient-reported outcome instruments (PROs) vary over the course of an athletic season because of normal athletic participation. Objective  Our primary purpose was to evaluate the effect of administration time point on HRQOL during an athletic season. Secondary purposes were to determine test-retest reliability and minimal detectable change scores of 3 PROs commonly used in clinical practice and if a relationship exists between generic and region-specific outcome instruments. Design  Cross-sectional study. Setting  Athletic facility. Patients or Other Participants  Twenty-three collegiate soccer athletes (11 men, 12 women). Main Outcome Measure(s)  At 5 time points over a spring season, we administered the Disablement in the Physically Active Scale (DPA), Foot and Ankle Ability Measure-Sport, and Knee Injury and Osteoarthritis Outcome Score (KOOS). Results  Time effects were observed for the DPA (P = .011) and KOOS Quality of Life subscale (P = .027). However, the differences between individual time points did not surpass the minimal detectable change for the DPA, and no post hoc analyses were significant for the KOOS-Quality of Life subscale. Test-retest reliability was moderate for the KOOS-Pain subscale (intraclass correlation coefficient = 0.71) and good for the remaining KOOS subscales, DPA, and Foot and Ankle Ability Measure-Sport (intraclass correlation coefficients > 0.79). The DPA and KOOS-Sport subscale demonstrated a significant moderate relationship (P = .018). Conclusions  Athletic participation during a nontraditional, spring soccer season did not affect HRQOL. All 3 PROs were reliable and could be used clinically to monitor changes in health status throughout an athletic season. Our results demonstrate that significant deviations in scores

  3. 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

  4. 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

  5. Increasing Obesity in Treated Female HIV Patients from Sub-Saharan Africa: Potential Causes and Possible Targets for Intervention

    PubMed Central

    McCormick, Claire L.; Francis, Arianne M.; Iliffe, Kim; Webb, Helen; Douch, Catherine J.; Pakianathan, Mark; Macallan, Derek C.

    2014-01-01

    Objectives: To investigate changing nutritional demographics of treated HIV-1-infected patients and explore causes of obesity, particularly in women of African origin. Methods: We prospectively reviewed nutritional demographics of clinic attenders at an urban European HIV clinic during four one-month periods at three-yearly intervals (2001, 2004, 2007, and 2010) and in two consecutive whole-year reviews (2010–2011 and 2011–2012). Risk-factors for obesity were assessed by multiple linear regression. A sub-study of 50 HIV-positive African female patients investigated body-size/shape perception using numerical, verbal, and pictorial cues. Results: We found a dramatic rise in the prevalence of obesity (BMI > 30 kg/m2), from 8.5 (2001) to 28% (2011–2012) for all clinic attenders, of whom 86% were on antiretroviral treatment. Women of African origin were most affected, 49% being obese, with a further 32% overweight (BMI 25–30 kg/m2) in 2012. Clinical factors strongly associated with obesity included female gender, black African ethnicity, non-smoking, age, and CD4 count (all P < 0.001); greater duration of cART did not predict obesity. Individual weight-time trends mostly showed slow long-term progressive weight gain. Investigating body-weight perception, we found that weight and adiposity were underestimated by obese subjects, who showed a greater disparity between perceived and actual adiposity (P < 0.001). Obese subjects targeted more obese target “ideal” body shapes (P < 0.01), but were less satisfied with their body shape overall (P = 0.02). Conclusion: Seropositive African women on antiretroviral treatment are at heightened risk of obesity. Although multifactorial, body-weight perception represents a potential target for intervention. PMID:25431572

  6. 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

  7. Female patient-specific finite element modeling of pelvic organ prolapse (POP).

    PubMed

    Chen, Zhuo-Wei; Joli, Pierre; Feng, Zhi-Qiang; Rahim, Mehdi; Pirró, Nicolas; Bellemare, Marc-Emmanuel

    2015-01-21

    Pelvic organ prolapse (POP) occurs only in women and becomes more common as women age. However, the surgical practices remain poorly evaluated. The realization of a simulator of the dynamic behavior of the pelvic organs is then identified as a need. It allows the surgeon to estimate the functional impact of his actions before his implementation. In this work, the simulation will be based on a patient-specific approach in which each geometrical model will be carried out starting from magnetic resonance image (MRI) acquisition of pelvic organs of one patient. To determine the strain and stress in the soft biological tissues, hyperelastic constitutive laws are used in the context of finite element analysis. The Yeoh model has been implemented into an in-house finite element code FER to model these organ tissues taking into account large deformations with multiple contacts. The 2D and 3D models are considered in this preliminary study and the results show that our method can help to improve the understanding of different forms of POP. PMID:25529137

  8. 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.

  9. Impact of female gender on prognosis in type 2 diabetic patients with ischemic stroke.

    PubMed

    Arboix, Adrià; Milian, Manel; Oliveres, Montserrat; García-Eroles, Luís; Massons, Juan

    2006-01-01

    This study assessed gender differences in diabetic patients with ischemic stroke with respect to vascular risk factors, clinical features and early outcome. Ischemic stroke was diagnosed in 261 diabetic women and 300 diabetic men of 2,446 ischemic stroke patients included in a prospective stroke registry over 17 years. Mean +/- SD age was 77.5 +/- 8.3 years in women and 71.8 +/- 9.7 years in men (p < 0.021). Risk factors for stroke including hypertension, atrial fibrillation, congestive heart failure and valvular heart disease were significantly more common in women. Cardioembolic infarction occurred in 29.5% of women and 15.3% of men (p < 0.001), and lacunar stroke in 40.3% of men and 29.9% of women (p < 0.006). In-hospital mortality was 14.9% in diabetic women, and 8.3% in diabetic men (p < 0.02). After multivariate analysis, congestive heart failure (OR = 4.59), frontal lobe involvement (OR = 2.67), hypertension (OR = 1.62) and age were independent variables for ischemic stroke in diabetic women. Diabetic women had a poor prognosis, which may be due to differences in age, comorbidity and stroke subtype distribution.

  10. 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

  11. 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

  12. [Microsurgical sterility operations in female patients with deficient contralateral tube--pros and cons].

    PubMed

    Römer, T; Lober, R; Nikschick, S

    1991-01-01

    Microsurgical operations of sterility on 39 women with only one remaining tube have been analysed in order to examine the justification of primary operations of sterility on these patients. 13 out of 26 women (50%), who had been followed up for at least 9 months after the operation, have become pregnant. Live birth rate was 30.8% abortion rate 7.7% and the rate of ectopic pregnancies 11.5%. The results correspond to these obtained from women bilaterally operated on, so that microsurgical operations are justified in sterile women with a lacking opposite tube, too. The removal of the opposite tube during the actual operation of sterility is prognostically more advantageous than the exstirpation before it. Salpingectomy has better results than salpingo-oophorectomy. PMID:1755259

  13. 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

  14. 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.

  15. 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

  16. Osler-Weber-Rendu disease presenting as recurrent portosystemic encephalopathy in a 75-year-old female patient.

    PubMed

    Ha, Junghoon; Son, Byoung Kwan; Ahn, Sang Bong; Jo, Young Kwan; Kim, Seong Hwan; Jo, Yun Ju; Park, Young Sook; Jung, Yoon Young

    2015-01-01

    Osler-Weber-Rendu disease is a rare autosomal dominant disorder of fibrovascular tissues, characterized by a classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and a familial occurrence. Portosystemic encephalopathy in a patient with Osler-Weber-Rendu disease is rare, but we experienced a case presenting with recurrent portosystemic encephalopathy in Osler-Weber-Rendu disease. We report on a case of a 75-year-old female presenting with an altered mentality. Initial studies including brain imaging study did not reveal any specific cause for her mental status. She was diagnosed with the rare disease after a series of tests and received conservative treatment. Her neurological status recovered fully without complication after conservative treatment and she was discharged after 18 hospital days. This case demonstrated an extremely rare case of Osler-Weber-Rendu disease presenting as portosystemic encephalopathy treated successfully with conservative treatment. For patients who have shown hepatic encephalopathy without a definite cause, we recommend evaluation for the possibility of Osler-Weber-Rendu disease. Conservative treatment based on treatment of advanced liver cirrhosis could be an alternative solution. PMID:25603856

  17. 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.

  18. 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

  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.

  20. 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

  1. Conjugate Fabry-Perot cavity pair for improved astro-comb accuracy.

    PubMed

    Li, Chih-Hao; Chang, Guoqing; Glenday, Alexander G; Langellier, Nicholas; Zibrov, Alexander; Phillips, David F; Kärtner, Franz X; Szentgyorgyi, Andrew; Walsworth, Ronald L

    2012-08-01

    We propose a new astro-comb mode-filtering scheme composed of two Fabry-Perot cavities (coined "conjugate Fabry-Perot cavity pair"). Simulations indicate that this new filtering scheme makes the accuracy of astro-comb spectral lines more robust against systematic errors induced by nonlinear processes associated with power-amplifying and spectral-broadening optical fibers.

  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. Gastrointestinal Symptoms in HIV-Infected Patients: Female Sex and Smoking as Risk Factors in an Outpatient Cohort in Brazil

    PubMed Central

    Santos, Annelisa Silva e Alves de Carvalho; Silveira, Erika Aparecida; Falco, Marianne de Oliveira

    2016-01-01

    This study aimed to estimate the incidence of gastrointestinal symptoms (GIS) and associated factors in an outpatient cohort of people living with HIV/AIDS (PLWHA) followed between October 2009 and July 2011. We evaluated nausea and/or vomiting, dyspepsia, heartburn, diarrhea, constipation, and flatulence. The outcome variable was the presence of three or more GIS. Sociodemographic (sex, skin color, age, income, years of schooling), lifestyle (smoking status, alcohol consumption, physical activity level), clinical (antiretroviral therapy, time of HIV infection, CD4 lymphocyte count, viral load), and anthropometric (nutritional status and waist circumference) variables were investigated. Data on sociodemographic and lifestyle variables were collected through a pre-tested and standardized questionnaire. CD4 count was determined by flow cytometry and viral load by branched DNA (bDNA) assays for HIV-1. All variables were analyzed at a p<0.05 significance level. Among 290 patients, the incidence of three or more GIS was 28.8% (95% CI 23.17 to 33.84) and 74.48% presented at least one symptom. Female gender (IR 2.29, 95% CI 1.63 to 3.22) and smoking status (IR 1.93, 95% CI 1.30 to 2.88) were risk factors for the presence of three or more GIS after multivariate Poisson regression. A high incidence of gastrointestinal symptoms was found among PLWHA, and it was significantly associated with female sex and tobacco use. Those results reinforce the relevance of investigating the presence of GIS in PLWHA as it may affect treatment adherence. PMID:27749931

  4. Temporomandibular disorder subtypes according to self-reported physical and psychosocial variables in female patients: a re-evaluation.

    PubMed

    Suvinen, T I; Reade, P C; Hanes, K R; Könönen, M; Kemppainen, P

    2005-03-01

    Several studies support the relevance of psychological and psychosocial factors in the assessment and management of chronic musculoskeletal pain disorders, including temporomandibular pain disorders (TMDs). The aim of this study was to re-evaluate subtyping approach used in an earlier study (TI Suvinen, KR Hanes, JA Gerschman, PC Reade. J Orofac Pain 1997;11:200) and to compare perceived physical symptoms, psychological, coping and psychosocial variables between subtypes of patients who seek treatment for their temporomandibular pain and dysfunction. A total of 41 consecutive female patients were assessed multiaxially for physical symptoms, coping style and effectiveness and illness behaviour by a previously validated Temporomandibular Pain Dysfunction Questionnaire (TI Suvinen, KR Hanes, JA Gerschman, PC Reade. J Orofac Pain 1997;11:200). Additional measures of psychosocial variables included the global scores of the Beck Depression and Anxiety Inventory and Part I of the Multidimensional Pain Inventory. Subtypes were generated using an iterative partitioning method, k-means cluster analysis. Three clusters were identified and termed as Simple (22%), Intermediate (41%) and Complex (37%) temporomandibular disorders subtypes. Significant differences (P < 0.05) were found between clusters in psychological (coping style and effectiveness, disease conviction and affective disturbance) and in psychosocial variables (daily interference and social, work and family satisfaction), but not between physical variables. The results support previous studies that have shown differences in psychosocial variables in the presentation and subtyping of TMDs and the biopsychosocial orientation in assessment. The findings need to be reverified in a larger sample along specific physical diagnoses, but it is tentatively proposed how the three subtypes could be used in the classification of temporomandibular pain patients to guide management, based on the constellation of predominant

  5. Marked Body Shape Concerns in Female Patients Suffering from Eating Disorders: Relevance of a Clinical Sub-Group

    PubMed Central

    Gailledrat, Lucie; Rousselet, Morgane; Venisse, Jean-Luc; Lambert, Sylvain; Rocher, Bruno; Remaud, Manon; Guilleux, Alice; Sauvaget, Anne; Eyzop, Emeline; Grall-Bronnec, Marie

    2016-01-01

    Concerns about body shape and weight are core diagnostic criteria for eating disorders although intensity varies between patients. Few studies have focused on the clinical differences relative to the intensity of these concerns. Nonetheless, they might have a prognostic value. This study was aimed at identifying the characteristics associated with marked body shape concerns in patients with an eating disorder. Data was collected from a systematic and standardized clinical assessment of outpatients seeking treatment in our department for eating disorders. Only female patients, suffering from anorexia nervosa or bulimia nervosa, and with “no / mild” or “marked” body shape concerns according to the Body Shape Questionnaire, were included for the present study. We focused on sociodemographic characteristics, eating disorder characteristics, axis 1 disorders, types of attachment, self-esteem and dissociation. A multiple logistic regression was performed to identify factors related to “marked” body shape concerns. In our sample (123 participants, with a mean age of 24.3 years [range 16–61]), 56.9% had marked concerns with body shape. Marked body shape concerns were associated with a major depressive episode (OR = 100.3), the use of laxatives (OR = 49.8), a high score on the item “body dissatisfaction” of the Eating Disorders Inventory scale (OR = 1.7), a higher minimum body mass index (OR = 1.73), and a high score on the item “loss of control over behavior, thoughts and emotions” from the dissociation questionnaire (OR = 10.74). These results are consistent with previous studies, and highlight the importance of denial. PMID:27776159

  6. Spontaneous serial fractures of metatarsal bones in female patient with rheumatoid arthritis on long-term steroid therapy.

    PubMed

    Avancini-Dobrović, Viviana; Vrbanić, Tea Schnurrer-Luke; Kukuljan, Melita; Stamenković, Doris; Cicvarić, Tedi; Jurdana, Harry; Dobrović, Dubravko

    2010-09-01

    Low-dose oral steroid therapies are very effective in active rheumatoid arthritis (RA), reducing disease activity in acute crisis either while waiting for disease-modifying antirheumatic drugs (DMARDs) to take effect or if it was slow in response to DMARDs. However, long-term steroid therapies are associated with serious side effects, such as osteoporotic reduction of bone mass and frequent fractures. This paper reports a female patient who has suffered RA treated with low-dose oral steroid therapy in a long-term period. Suddenly, she developed severe pain and oedema of forefeet during home distance level walking, with no history of trauma. The diagnosis of spontaneous serial fractures of the 2nd to 4th metatarsal (MT) bone bilaterally was performed by feet radiography. Furthermore, in widening the diagnostic approaches the authors had performed diagnostic musculoskeletal ultrasound to exclude metatarsophalangeal joint effusion and exacerbation of RA. They also made a static analysis of feet on the electronic baropodometer system in order to register biomechanical changes in bipedal standing. One year after, the same diagnostic procedures were done, on which occasion the healing of fractures were verified, with better results in biomechanical static analysis of the feet but without complete regression of static disbalance. This could lead to further disturbances during level walking and daily activities. This paper reports a unique case of the RA patient on long-term low-dose steroid therapy with previously unreported sites of spontaneous metatarsal fractures of feet which causes further static disbalance; consequently the patient might experience problems in every-day life activities.

  7. Effectiveness of acupressure versus isometric exercise on pain, stiffness, and physical function in knee osteoarthritis female patients

    PubMed Central

    Sorour, Amany S.; Ayoub, Amany S.; Abd El Aziz, Eman M.

    2013-01-01

    Osteoarthritis (OA) is the most common form of arthritis and a leading cause of disability in older adults. Conservative non-pharmacological strategies, particularly exercise, are recommended by clinical guidelines for its management. The aim of this study was to assess the effectiveness of acupressure versus isometric exercise on pain, stiffness, and physical function in knee OA female patients. This quasi experimental study was conducted at the inpatient and outpatient sections at Al-kasr Al-Aini hospital, Cairo University. It involved three groups of 30 patients each: isometric exercise, acupressure, and control. Data were collected by an interview form and the Western Ontario and McMaster Universities Osteoarthritis index (WOMAC) scale. The study revealed high initial scores of pain, stiffness, and impaired physical functioning. After the intervention, pain decreased in the two intervention groups compared to the control group (p < 0.001), while the scores of stiffness and impaired physical function were significantly lower in the isometric group (p < 0.001) compared to the other two groups. The decrease in the total WOMAC score was sharper in the two study groups compared to the control group. In multiple linear regression, the duration of illness was a positive predictor of WOMAC score, whereas the intervention is associated with a reduction in the score. In conclusion, isometric exercise and acupressure provide an improvement of pain, stiffness, and physical function in patients with knee OA. Since isometric exercise leads to more improvement of stiffness and physical function, while acupressure acts better on pain, a combination of both is recommended. The findings need further confirmation through a randomized clinical trial. PMID:25685487

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. 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

  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. Microlens optical fiber Fabry-Pérot tunable filter

    NASA Astrophysics Data System (ADS)

    Tang, Caijie; Jiang, Yi

    2009-11-01

    An optical fiber Fabry-Pérot tunable filter is constructed by fixing two microlensed mirror-coated fibers to the opposite ends of a piezoelectric transducer. A tunable filter with a free spectral range of 70 nm, a finesse of 175, an insertion loss of 1.05 dB, and a tuning frequency exceeding 1 kHz has been experimentally demonstrated. The filter is easy to construct at a low cost, and it is anticipated that it will be used in fiber-optic sensing systems, spectrometers, and tunable optical fiber lasers.

  15. Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.

    PubMed

    Marchesan, D; Cox, T M; Deegan, P B

    2012-11-01

    The success of enzymatic replacement in Gaucher disease has stimulated development of targeted protein replacement for other lysosomal disorders, including Anderson-Fabry disease, which causes fatal cardiac, cerebrovascular and renal injury: deficiency of lysosomal α-Galactosidase A induces accumulation of glycosphingolipids. Endothelial cell storage was the primary endpoint in a clinical trial that led to market authorization. Two α-Galactosidase A preparations are licensed worldwide, but fatal outcomes persist, with storage remaining in many tissues. We compare mechanisms of uptake of α -Galactosidase A into cells relevant to Fabry disease, in order to investigate if the enzyme is targeted to the lysosomes in a mannose-6-phosphate receptor dependent fashion, as generally believed. α -Galactosidase A uptake was examined in fibroblasts, four different endothelial cell models, and hepatic cells in vitro. Uptake of europium-labeled human α -Galactosidase A was measured by time-resolved fluorescence. Ligand-specific uptake was quantified in inhibitor studies. Targeting to the lysosome was determined by precipitation and by confocal microscopy. The quantity and location of cation-independent mannose-6-phosphate receptors in the different cell models were investigated using confocal microscopy. Uptake and delivery of α -Galactosidase A to lysosomes in fibroblasts is mediated by the canonical mannose-6-phosphate receptor pathway, but in endothelial cells in vitro this mechanism does not operate. Moreover, this observation is supported by a striking paucity of expression of cation independent mannose-6-phosphate receptors on the plasma membrane of the four endothelial cell models and by little delivery of enzyme to lysosomes, when compared with fibroblasts. If these observations are confirmed in vivo, alternative mechanisms will be needed to explain the ready clearance of storage from endothelial cells in patients undergoing enzyme replacement therapy. PMID:22450713

  16. Atrial Fibrillation is Associated With Morphine Treatment in Female Breast Cancer Patients: A Retrospective Population-Based Time-Dependent Cohort Study.

    PubMed

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

    2016-03-01

    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

  17. Cephalometric Analysis of the Facial Skeletal Morphology of Female Patients Exhibiting Skeletal Class II Deformity with and without Temporomandibular Joint Osteoarthrosis

    PubMed Central

    Chen, Shuo; Lei, Jie; Fu, Kai-Yuan; Wang, Xing; Yi, Biao

    2015-01-01

    Purpose This study evaluated the differences in the facial morphological characteristics of female patients exhibiting skeletal class II deformity with and without temporomandibular joint osteoarthrosis. Methods Eighty-three female patients with skeletal class II deformity were included in this study; these patients were classified into three groups on the basis of the condylar features shown in cone-beam computed tomography scans: normal group, indeterminate for osteoarthrosis group, and osteoarthrosis group. The cephalometric differences among the three groups were evaluated through one-way ANOVA. Results Of the 83 patients, 52.4% were diagnosed with osteoarthrosis, as indicated by the changes in the condylar osseous component. The cephalometric measurements that represented skeletal characteristics, including mandibular position relative to the cranial base, mandibular plane angle (MP-SN), posterior facial height (S-Go), and facial height ratio, were significantly different among the three groups (p < 0.05). The patients in the osteoarthrosis group yielded the smallest S-Go, the highest MP-SN, and the most retruded mandible. Conclusions Temporomandibular joint osteoarthrosis is commonly observed in female patients with skeletal class II deformity. The morphological characteristics of the facial skeleton in patients with bilateral condylar osteoarthrosis may be altered. PMID:26474490

  18. Atrial Fibrillation is Associated With Morphine Treatment in Female Breast Cancer Patients: A Retrospective Population-Based Time-Dependent Cohort Study.

    PubMed

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

    2016-03-01

    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.

  19. 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

  20. 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.

  1. Atmospheric spectra from a multiplex Fabry-Perot interferometer

    SciTech Connect

    Snell, H.E.; Cook, W.B.; Hays, P.B.

    1994-12-31

    Remote sensing of major and minor constituents in the earth`s atmosphere is of great importance to the study of climate and global change. Because much of remote sensing involves placing instrumentation in environments that are not easily accessible, such as balloons, spacecraft, or remote field stations, it is usually necessary that the instrumentation be compact, lightweight, and rugged. This paper describes the development of a new type of remote sensing instrument the authors have chosen to call the Multiplex Fabry-Perot Interferometer (MFPI). They will present atmospheric spectra obtained with the working prototype instrument. The MFPI is a Fabry-Perot interferometer for which the etalon plate separation is changed over a large optical distance during a measurement. When the resulting interferogram is Fourier transformed the multiple reflections within the etalon cavity produce a spectrum analogous to that which would be produced by an array of Michelson interferometers. However, for high spectral resolution measurements the scan distance required by the MFPI is much less than for the comparable Michelson. The MFPI will be ideal for remote sensing applications where weight, size, and mechanical reliability are primary considerations.

  2. 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.

  3. Fiber-coupled short Fabry-Perot resonators

    SciTech Connect

    Stone, J.; Marcuse, D. )

    1989-05-01

    Fabry-Perot resonators intended as filters in wavelength-multiplexed optical communications systems may have to be very short (on the order of 10 {mu}m) in order to increase their free spectral range. Short, yet tunable cavities can be designed as air gaps between two fibers placed in close proximity with highly reflecting mirrors deposited on their ends. However, an air-gap resonator with plane mirrors between closely spaced fiber ends may yield low throughout because of the poor match between the modes of typical single-mode fibers and the resonant mode in the air-gap cavity. The throughput can be improved by confining the resonant mode by means of a hollow dielectric tube placed inside the resonator. This paper compares short fiber-coupled Fabry-Parot resonators with and without an inserted hollow dielectric waveguide and derives expressions for their transmission losses. The authors show that the throughput of both types of resonator can be improved significantly by using a special fiber with large mode size to couple to the resonator. The special fiber is then spliced to a conventional single-mode fiber. They conclude that the resonator with an inserted hollow dielectric waveguide offers increased throughput for resonators with high finesse.

  4. 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

  5. Short-Term Pulmonary Rehabilitation for a Female Patient with Chronic Scleroderma under a Single-Case Research Design

    PubMed Central

    Leelarungrayub, Jirakrit; Pinkaew, Decha; Wonglangka, Khanittha; Eungpinichpong, Wichai; Klaphajone, Jakkrit

    2016-01-01

    Although previously proposed that chronic scleroderma should be cared for clinically and early rehabilitation should be performed in hospital by a chest physical therapist, little evidence is currently available on its benefits. Therefore, this study demonstrated the benefits of short-term pulmonary rehabilitation during hospitalization in a female patient with chronic scleroderma. The aim of rehabilitation was to improve ventilation and gas exchange by using airway clearance, chest mobilization, and breathing-relearning techniques, including strengthening the respiratory system and the muscles of the limbs by using the BreathMax® device and elastic bands. Gross motor function and activities of daily life were regained by balancing, sitting, and standing practices. Data on minimal chest expansion, high dyspnea, high respiratory rate, and low maximal inspiratory mouth pressure were recorded seven days before rehabilitation or at the baseline period. But there was a clinically significant improvement in dyspnea, chest expansion, maximal inspiratory mouth pressure, and respiratory rate, when compared to baseline data, which were recorded by a chest physical therapist during seven days of rehabilitation. Furthermore, physicians decided to stop using a mechanical ventilator, and improvement in functional capacity was noted. Therefore, in the case of chronic and stable scleroderma, short-term rehabilitation during hospitalization for chest physical therapy possibly shows clinical benefits by improving both pulmonary function and physical performance. PMID:27721661

  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. The reliability and validity of a sexual and physical abuse history questionnaire in female patients with gastrointestinal disorders.

    PubMed

    Leserman, J; Drossman, D A; Li, Z

    1995-01-01

    Although the literature on the psychological and medical sequelae of sexual and physical abuse has been growing, researchers have made few attempts to standardize the measurement of abuse history. The authors of this article report the first standardization of a screening instrument to identify sexual and physical abuse in a medical population. Reliability was assessed using test-retest methodology, and validity was supported by comparison with an interview (criterion validity). The sample included 139 female patients in a gastroenterology clinic. Data indicate acceptable test-retest reliability of the sexual abuse instrument (81%) and 81% overall agreement between the questionnaire and the interview on any sexual abuse. In comparison, the authors found 77% agreement in test-retest reliability of the physical abuse questionnaire and 70% agreement between the questionnaire and the interview on physical abuse. From their analyses, they concluded that the sexual abuse questionnaire and, to a lesser extent, the physical abuse instrument have acceptable levels of reliability and validity. As a screening tool, the abuse measures could be used to identify women in clinic settings for further study. PMID:8789650

  8. 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

  9. [Structural characteristics of Abies fabri forests at the upper reach of Yangtze River].

    PubMed

    Gao, Jiarong; Zhang, Dongsheng; Niu, Jianzhi; Yu, Xinxiao; Zhang, Wenjing

    2003-01-01

    The structural characteristics of Abies fabri forest under different succession stages in Gongga Mountains at the upper reach of Yangtze River were studied. The results showed that in the mature Abies fabri forest, there existed abundant seeds and a few saplings of Abies fabri younger than 20 years, but only Abies fabri was the dominant regeneration species. In the poplar-fir mixed forest, the height growth of poplar and birch was very fast during first 30 years, and poplar and birch dominated rapidly over the canopy. Abies fabri had a lower growth rate and a strong shade-tolerance in its first growth stage, and could replace other tree species gradually. The cycle of mud-rock flow occurrence was above 100 years in the Gongga montane areas from elevation of 2800 to 3200 m. After mud-rock flow, poplar and birch often occurred and dominated, and there were only a small number of Abies fabri saplings in slash. Under natural condition, to recover Abies fabri forest would demand a long time, but this process could be controlled and improved by human activities.

  10. Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease.

    PubMed

    Lenders, Malte; Stypmann, Jörg; Duning, Thomas; Schmitz, Boris; Brand, Stefan-Martin; Brand, Eva

    2016-01-01

    Fabry disease (FD) is a progressive multisystemic disorder, treatable with recombinant enzyme replacement therapy (agalsidase). However, recent studies suggest an endogenous inhibition of agalsidase in patients with FD, as reported for other lysosomal storage diseases. To assess the clinical consequences of serum-mediated agalsidase inhibition in affected patients, we determined the agalsidase inhibition status of 168 patients (68 male) with FD and compared outcomes of inhibition-positive patients with those of inhibition-negative patients. The assessment included clinical events during time on agalsidase, determination of renal and cardiac function, and evaluation of FD-related symptoms. The frequency of serum-mediated agalsidase inhibition was 40% in agalsidase-treated males. Inhibition did not depend on the compound initially used (agalsidase-α or -β). Agalsidase inhibition was associated with higher lyso-globotriaosylceramide levels and worse disease severity scores in patients. Compared with agalsidase inhibition-negative men, agalsidase inhibition-positive men showed greater left ventricular mass (P=0.02) and substantially lower renal function (difference in eGFR of about -30 ml/min per 1.73 m(2); P=0.04), which was confirmed by a longitudinal 5-year retrospective analysis. Additionally, affected patients presented more often with FD-typical symptoms, such as diarrhea, fatigue, and neuropathic pain, among others. Therefore, patients with poor clinical outcome on agalsidase should be tested for agalsidase inhibition. Future studies are warranted to determine if affected patients with FD benefit from acute reduction of anti-agalsidase antibodies or long-term immune modulation therapies to suppress agalsidase inhibition and to identify mechanisms that minimize antibody generation against agalsidase.

  11. 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.

  12. 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.

  13. Lifespan attention deficit/hyperactivity disorder and borderline personality disorder symptoms in female patients: a latent class approach.

    PubMed

    van Dijk, Fiona; Lappenschaar, Martijn; Kan, Cornelis; Verkes, Robbert-Jan; Buitelaar, Jan

    2011-12-30

    Attention-deficit/hyperactivity disorder (ADHD) and borderline personality disorder (BPD) are frequently comorbid. To contribute to a better understanding of the associations regularly found between ADHD and BPD, on the one hand, and the developmental pathways for these disorders, on the other hand, latent class analyses (LCA) were undertaken to identify classes differing in profiles of childhood symptoms of ADHD and adult symptoms of ADHD and BPD. Diagnostic interviews with 103 female outpatients meeting the criteria for ADHD and/or BPD were used to assess current DSM-IV symptoms; childhood symptoms of ADHD were assessed in parent interviews. The latent classes were examined in relation to the DSM-IV conceptualizations of ADHD and BPD. And relations between childhood and adult classes were examined to hypothesize about developmental trajectories. LCA revealed an optimal solution with four distinct symptom profiles: only ADHD symptoms; BPD symptoms and only ADHD symptoms of hyperactivity; BPD symptoms and ADHD symptoms of inattention and hyperactivity; BPD symptoms and ADHD symptoms of inattention, hyperactivity and impulsivity. All patients with BPD had some ADHD symptoms in both adulthood and childhood. Hyperactivity was least discriminative of adult classes. Adult hyperactivity was not always preceded by childhood hyperactivity; some cases of comorbid ADHD and BPD symptoms were not preceded by significant childhood ADHD symptoms; and some cases of predominantly BPD symptoms could be traced back to combined symptoms of ADHD in childhood. The results underline the importance of taking ADHD diagnoses into account with BPD. ADHD classification subtypes may not be permanent over time, and different developmental pathways to adult ADHD and BPD should therefore be investigated.

  14. Aspects of Health-Related Factors and Nutritional Care Needs by Survival Stage among Female Cancer Patients in South Korea

    PubMed Central

    Bae, Eunjoo; Lim, Hyunjung

    2016-01-01

    Purpose This study examined diet-related problems and needs associated with nutritional care according to survival stage in Korean female cancer survivors. Methods 186 outpatients (breast or gynecologic cancer survivors) recruited. Subjects were classified as (1) extended stage (ES, 2–5 years from diagnosis) and (2) long-term stage (LS, ≥5 years from diagnosis). Eating habits, changes in health related factors, nutritional needs, and quality of life were investigated. Results 43% of ES survivors had diet-related problems (p = .031); ES group reported dyspepsia and LS group reported anorexia/nausea as the major problem. Half of ES survivors had taste change, decreasing amount of intake, and reduced quality of life (p < .05). The LS group had a greater preference for sweet tastes than the ES group. According to their diagnosis, ES survivors with breast cancer gained weight (27.1%), whereas ES survivors with gynecologic cancer lost their body weight (34.5%) significantly. LS breast cancer patients showed great food preference for vegetables, whereas those with gynecologic cancer showed an increased preference for fish, meat and grain. Approximately 90% of survivors demanded nutritional care regarding restricted foods, preventing recurrence, particularly in ES survivors (p < .01). Moreover, main factors for nutritional care needs were body weight control for breast cancer and food environment for gynecologic cancer. Conclusion Survivors have different aspects of diet-related problems by survival stage as dyspepsia in ES and anorexia in LS. ES stage had changes in dietary patterns and their food consumption have decreased. Most of survivors have demanded nutritional care regardless of survival stage. These features of each stage should be considered to improve their health. PMID:27695041

  15. Effects of skin care and makeup under instructions from dermatologists on the quality of life of female patients with acne vulgaris.

    PubMed

    Matsuoka, Yoshie; Yoneda, Kozo; Sadahira, Chieko; Katsuura, Junko; Moriue, Tetsuya; Kubota, Yasuo

    2006-11-01

    Acne vulgaris significantly affects patients' quality of life (QOL) and their lives in various ways, including social behavior and body dissatisfaction. This may be heightened by acne's typical involvement of the face. We investigated whether the use of skin care and makeup could influence the QOL of affected patients without deteriorating conventional acne treatments. Fifty female patients with acne were recruited for our study. Twenty-five patients were instructed how to use skin care and cosmetics, while 25 patients received no specific instructions from dermatologists. Both groups received conventional topical and/or oral medication for acne during the study period for 4 weeks. Both groups did not show any significant difference in clinical improvement of acne severity. Two validated QOL questionnaires, World Health Organization (WHO)QOL26 and the Dermatology Life Quality Index (DLQI) were administered to all patients at first visit and 4 weeks later. The mean scores of psychological and overall domains in WHOQOL26 for patients with instructions were improved significantly, while only the overall score was significantly improved for patients without instructions. The total mean scores and all domains except work/school in DLQI for patients with instructions were improved significantly, while the total scores and all domains except discomfort for treatment in DLQI were significantly improved for patients without instructions. Thus, instructions on the use of skin care and cosmetics for female acne patients did not deteriorate acne treatment and influenced patients' QOL effectively. We therefore suggest that instructions for using skin care and cosmetics complement conventional medical treatments for acne.

  16. 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

  17. [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

  18. [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.

  19. [Treatment of Fabry disease: Successes, failures, and expectations].

    PubMed

    Lidove, Olivier; Barbey, Frédéric; Joly, Dominique

    2016-04-01

    Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors. PMID:26968478

  20. 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.

  1. 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.

  2. Fabry's disease as a differential diagnosis of MS.

    PubMed

    Callegaro, D; Kaimen-Maciel, D R

    2006-01-01

    Fabry's disease is a genetically inherited error of glycosphingolipid metabolism that results from the defective activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA). The enzymatic defect, caused by an X-linked recessive genes, leads to progressive deposition of neutral glycosphingolipids (predominantly globotriaosylceramide), with terminal alpha-galactosyl moieties, in most visceral tissues and fluids of the body. Cerebrovascular manifestations result from multifocal small-vessel involvement and may include thromboses, basilar arterial ischaemia and aneurysm, seizures, paroxystic hemiplegia or hemianaesthesia, vestibular disorders and frank cerebral haemorrhage. Severe neurological signs may be present without evidence of major thrombosis and are presumably due to multifocal small-vessel occlusive disease. Vascular ischaemia and lipid deposition in peripheral nerves may cause conduction abnormalities (slowed conduction velocities and distal latency). Sensory neurons in spinal ganglia and small myelinated and unmyelinated fibers are affected preferentially. PMID:16420782

  3. Fiber Fabry-Perot interferometer for curvature sensing

    NASA Astrophysics Data System (ADS)

    Monteiro, Catarina S.; Ferreira, Marta S.; Silva, Susana O.; Kobelke, Jens; Schuster, Kay; Bierlich, Jörg; Frazão, Orlando

    2016-07-01

    A curvature sensor based on an Fabry-Perot (FP) interferometer was proposed. A capillary silica tube was fusion spliced between two single mode fibers, producing an FP cavity. Two FP sensors with different cavity lengths were developed and subjected to curvature and temperature. The FP sensor with longer cavity showed three distinct operating regions for the curvature measurement. Namely, a linear response was shown for an intermediate curvature radius range, presenting a maximum sensitivity of 68.52 pm/m-1. When subjected to temperature, the sensing head produced a similar response for different curvature radii, with a sensitivity varying from 0.84 pm/°C to 0.89 pm/°C, which resulted in a small cross-sensitivity to temperature when the FP sensor was subjected to curvature. The FP cavity with shorter length presented low sensitivity to curvature.

  4. 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.

  5. 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.

  6. 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.

  7. Analysis and design of tunable fiber Fabry-Perot filter

    NASA Astrophysics Data System (ADS)

    Qi, Haibing; Yu, Yonglin

    2008-12-01

    The effective reflectivity of planar tunable filter fiber Fabry-Perot (TF-FFP) caused by coupling losses would led to the change of tuning range and the full width half maximum (FWHM) in the process of gap distance tuning. The general transfer function expression of FFP is developed by Gaussian beams model and coupling losses. A method that is by appropriate unsymmetrical reflectivity of fiber end can increase the tuning range and reduce the FWHM is proposed, the obtained parameters may be useful for the analysis and design of other TF-FFP. At last the initial gap position and reflectivities of both ends of TF-FFP are designed theoretically for C-band and C+L-band respectively.

  8. [Treatment of Fabry disease: Successes, failures, and expectations].

    PubMed

    Lidove, Olivier; Barbey, Frédéric; Joly, Dominique

    2016-04-01

    Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors.

  9. HTS Fabry-Perot resonators for the far infrared

    NASA Astrophysics Data System (ADS)

    Keller, Philipp; Prenninger, Martin; Pechen, Evgeny V.; Renk, Karl F.

    1996-06-01

    We report on far infrared (FIR) Fabry-Perot resonators (FPR) with high temperature superconductor (HTS) thin films as mirrors. For the fabrication of FPR we use two parallel MgO plates covered with YBa2Cu3O7-delta thin films on adjacent sides. We 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. We have also shown that thin films of gold are not adequate substitute to HTS thin films and not suitable for the fabrication of high-quality FPR due to the ohmic losses.

  10. Fabry-Perot observations of Comet Halley H2O(+)

    NASA Astrophysics Data System (ADS)

    Scherb, F.; Magee-Sauer, K.; Roesler, F. L.; Harlander, J.

    1990-07-01

    Fabry-Perot scanning spectrometer observations of Comet Halley's H2O(+) emissions have yielded 6158.64 and 6158.85 A spin doublet data at distances in the range of 0 to 2 million km from the comet heat in the antisunward direction. Cometary plasma outflow velocities were ascertained on the basis of the emissions' Doppler shifts, yielding results that were mostly but not exclusively consistent with the plasma's constant antisunward acceleration; the acceleration varied from night to night of observations over a 30-300 cm/sec range. The unusual plasma kinematics of December 14-15, 1985, and January 10, 1986, may be associated with the tail-disconnection activity observed by others.

  11. 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

  12. 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.

  13. A high-finesse fiber optic Fabry-Perot interferometer based magnetic-field sensor

    NASA Astrophysics Data System (ADS)

    Chen, Feifei; Jiang, Yi; Gao, Hongchun; Jiang, Lan

    2015-08-01

    A high-finesse extrinsic Fabry-Perot interferometric sensor for the measurement of weak dc magnetic fields is demonstrated. The Fabry-Perot cavity is formed by aligning the fiber end-face and the TbDyFe rod end-face, and each end-face is coated by a mirror with a micro-lens. The length of the TbDyFe rod is changed by the variation of an applied dc magnetic field, leading a change of the Fabry-Perot cavity length. By interrogating the white-light interferometric spectrum, the wavelength of the resonant peak is tracked and the length of the Fabry-Perot cavity is obtained. The sensor exhibits a high sensitivity of 1510 nm/mT with a magnetic resolution of 25 nT.

  14. Uses of Fabry-Perot velocimeters in studies of high explosives detonation

    SciTech Connect

    Breithaupt, R.D.; Tarver, C.M.

    1990-08-27

    The Fabry Perot has become an important and valuable tool by which explosive performance information can be obtained relatively easily and inexpensively. Principle uses of the Fabry Perot have been free surface, and particle velocity measurements in one dimensional studies of explosive performance. In the cylinder test, it has been very useful to resolve early wall motions. We have refined methods of characterizing new explosives i.e. equation of state, C-J pressure, via the cylinder shot, flat plate, and particle velocity techniques. All of these use Fabry Perot as one of the principle diagnostics. Each of these experimental techniques are discussed briefly and some of the results obtained. Modeling developed to fit Fabry-Perot results are described along with future testing.

  15. 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)

  16. 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

  17. 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

  18. 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.

  19. Experimental and numerical characterization of a hybrid Fabry-Pérot cavity for temperature sensing.

    PubMed

    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

    2015-04-07

    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.

  20. Engineering-reflected phase in Fabry-Perot sensors with resonant mirrors.

    PubMed

    Gellineau, Antonio; Wong, Yu-Po; Solgaard, Olav

    2013-12-01

    Fabry-Perot cavities made with photonic crystal (PC) mirrors and other resonant structures exhibit nontraditional characteristics due to the strong wavelength dependence of their reflected phase. This Letter describes how engineering the phase of PC mirrors enables sensors that are tolerant to variations in laser center frequency and line width. Reflection spectra measurements of Fabry-Perot cavities made with PC mirrors were collected as a function of wavelength and cavity length, providing experimental verification of theory and simulations.

  1. [Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome].

    PubMed

    Undas, Anetta; Ryś, Donata; Wegrzyn, Wojciech; Musiał, Jacek

    2002-11-01

    A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.

  2. Experimental and numerical characterization of a hybrid Fabry-Pérot cavity for temperature sensing.

    PubMed

    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

  3. 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.

  4. Fabry-Pérot interferometer utilized for displacement measurement in a large measuring range.

    PubMed

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

    2010-09-01

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

  5. Analyses of Donor-Derived Keratinocytes in Hairy and Nonhairy Skin Biopsies of Female Patients Following Allogeneic Male Bone Marrow Transplantation

    PubMed Central

    Nemeth, Krisztian; Key, Sharon; Bottlik, Gyula; Masszi, Tamas; Karpati, Sarolta

    2012-01-01

    Skin samples taken from 6 female patients receiving allogeneic bone marrow transplants (BMT) from male siblings (n=5) or from unrelated human leukocyte antigen (HLA)-matched male donor (n=1) due to hematological malignancies were studied for the presence of donor cells. One nontransplanted male and 1 female control that received female BM were used as further controls of the technique. Skin biopsies were taken from the scalp and the back from each patient 12–16 years after the successful BMT. We have found donor chimerism in all of the 6 patients in both of their biopsies. Using single and double immunostainings in combination with Y chromosome hybridization, we observed that there are cytokeratin-expressing donor-derived cells in the epidermis of all the 6 patients, the numbers being slightly higher in the scalp (0.37%–1.78%) than in the back (0.32%–1.08%) biopsies. The indication for BMT, and the age of the patient did not seem to have any effect on the numbers found. A few of the double-labeled cells also stained for Ki67, a marker of cellular proliferation, suggesting that the engrafted cells were able to further divide in the epidermis. In 2 patients we observed patches of donor keratinocytes within the epidermis, suggesting a clonal origin. We conclude that in agreement with some and in contrast to other published studies, BM-derived circulating cells are able to engraft in the human skin and to further proliferate there and thus contribute to tissue renewal. These data raise the possibility to use BM cells in regenerative medicine to help in extended injuries, large surface burns, or lack of skin due to other reasons. PMID:21288071

  6. 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

  7. 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.

  8. Influence of intensity loss in the cavity of a folded Fabry-Perot interferometer on interferometric signals.

    PubMed

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

    2011-06-01

    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.

  9. Experimental Studies of Alignment Tolerance and High Temperature Performance of A Fabry-Perot Interferometric Pressure Sensor

    NASA Astrophysics Data System (ADS)

    Padron, Ivan; Fiory, Anthony; Ravindra, Nuggehalli

    2008-03-01

    Fabry-Perot interferometry is one of the most reliable of the several optical techniques that can be utilized to facilitate the fabrication of an optical sensor. Devices based on this technique can provide high degree of sensitivity, versatility and immunity to environmental noise. The Fabry-Perot Interferometric Sensor (FPIS), to be discussed in this presentation, consists of a Fabry-Perot cavity formed between two bonded surfaces: a corrugated diaphragm with a center rigid body (or boss) which deflects under external pressure and keeps a high alignment tolerance and a glass surface with an optical fiber insert. The Fabry-Perot cavity and optical fiber have been used as the sensing element and interconnect, respectively. The Fabry-Perot cavity has been fabricated using the MEMS technology. Micromachining techniques make Fabry-Perot sensors very attractive by reducing the size and cost of the sensing element.

  10. 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

  11. 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

  12. Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.

    PubMed

    Takao, Masaki; Mori, Taisuke; Orikasa, Hideki; Oh, Haengphil; Suzuki, Kinuko; Koto, Atsuo; Yamazaki, Kazuto

    2007-09-01

    A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was conducted, which revealed abnormal accumulation or intracytoplasmic storage of lipid-rich material in the small blood vessels, kidney, heart, and nervous system. After postmortem pathologic studies, including light-microscopic histochemistry, electron microscopy, and biochemical analysis of the stored lipid contents, a final diagnosis of Fabry disease was made. Histopathologic examination revealed a unique vasculopathy characterized by the presence of abnormal intracytoplasmic lipid inclusions and vascular remodeling. With regard to the clinical presentation of acromegaly, hyperplasia but not adenomatous transformation of the acidophils of the anterior pituitary gland with immunohistochemical detection of growth hormone within the cells was noted. In this case, the complication of acromegaly with hyperplasia of the acidophilic cells of the anterior pituitary gland and the unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems, possibly as a result of microcirculatory failure, are considered to be not incidental findings but to be intimately involved in the pathogenesis of Farby disease.

  13. 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.

  14. 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…

  15. 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.

  16. Monolithic Fabry-Perot Wavelength Tunable Filter with Electrothermal Actuation

    NASA Astrophysics Data System (ADS)

    Kim, Chang Kyu; Lee, Myung Lae; Jun, Chi-Hoon; Choi, Chang Auck

    2005-02-01

    We report on a micromachined monolithic Fabry-Perot wavelength tunable filter with a thick moving structure operated by an electrothermal actuation. The monolithic structure simplifies the fabrication process and the electrothermal actuation mechanism reduces the required operation voltage. For the wet etching of the AlGaAs sacrificial layer, an HCl-based solution rather than a HF-based one was used because it results in a larger selectivity between the AlxGa1-xAs layers and less damage to the suspended structure. The wavelength tuning range of the 7.64-μm-thick structure was 47 nm for the power consumption of 5 mW, which results in the high tuning efficiency of ˜9.9 nm/mW. The wide tuning range of 81.2 nm for the 5.2-μm-thick structure, that is not possible with an electrostatic actuation mechanism due to the occurrence of breakdown, is achieved at the driving voltage below 5.7 V. Due to the simplicity of fabrication and the ease of integration, this structure is advantageous for use in wavelength tunable light sources and photodetectors.

  17. 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.

  18. Fabry's disease: an example of cardiorenal syndrome type 5.

    PubMed

    Sharma, Aashish; Sartori, Marco; Zaragoza, Jose J; Villa, Gianluca; Lu, Renhua; Faggiana, Elena; Brocca, Alessandra; Di Lullo, Luca; Feriozzi, Sandro; Ronco, Claudio

    2015-11-01

    Cardiorenal syndrome type 5 (CRS-5) includes conditions where there is a simultaneous involvement of the heart and kidney from a systemic disorder. This is a bilateral organ cross talk. Fabry's disease (FD) is a devastating progressive inborn error of metabolism with lysosomal glycosphingolipid deposition in variety of cell types, capillary endothelial cells, renal, cardiac and nerve cells. Basic effect is absent or deficient activity of lysosomal exoglycohydrolase a-galactosidase A. Renal involvement consists of proteinuria, isosthenuria, altered tubular function, presenting in second or third decade leading to azotemia and end-stage renal disease in third to fifth decade mainly due to irreversible changes to glomerular, tubular and vascular structures, especially highlighted by podocytes foot process effacement. Cardiac involvement consists of left ventricular hypertrophy, right ventricular hypertrophy, arrhythmias (sinus node and conduction system impairment), diastolic dysfunction, myocardial ischemia, infarction, transmural replacement fibrosis, congestive heart failure and cardiac death. Management of FD is based on enzymatic replacement therapy and control of renal (with anti-proteinuric agents such as angiotensin-converting enzyme inhibitors-and/or angiotensin II receptor blockers), brain (coated aspirin, clopidogrel and statin to prevent strokes) and heart complications (calcium channel blockers for ischemic cardiomyopathy, warfarin and amiodarone or cardioverter device for arrhythmias). PMID:26232292

  19. 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.

  20. 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

  1. Optical fiber Fabry-Perot sensors for smart structures

    NASA Astrophysics Data System (ADS)

    Lee, C. E.; Alcoz, J. J.; Yeh, Y.; Gibler, W. N.; Atkins, R. A.; Taylor, H. F.

    1992-06-01

    The paper describes the operation principles and the construction, performance, and application of optical fiber Fabry-Perot interferometers (FFPIs) utilizing internal mirrors, developed for sensing temperature, strain, acoustic waves, and other physical perturbations in structural materials. It is shown that the internal-mirror FFPI sensors have a good mechanical strength which make it possible for the sensors to endure mechanical stresses experienced during the embedding process, and provide high sensitivity and point-sensing and ultrasound pressure. A digital signal processor is described. the 29th International Conference on the Applications of the Mössbauer Effect (ICAME 2007) held in Kanpur, India, 14-19 October 2007, PART IV/VII 30 2008 11 19 2008 11 18 2008 7 2008 Springer Science+Business Media B.V. 2008 9819 10.1007/s10751-008-9819-1 17 57Fe-Mössbauer study of electrically conducting barium iron vanadate glass after heat treatment 115 121 2008 9 17 2008 10 9 Spr

  2. 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.

  3. Extensive ameloblastic fibroma of the mandibula in a female adult patient: A case report with a follow-up of 3 years.

    PubMed

    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.

  4. 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

  5. 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

  6. Laser micromachined and acid-etched Fabry-Perot cavities in silica fibres

    NASA Astrophysics Data System (ADS)

    Machavaram, V. R.; Tuck, C. J.; Teagle, M. C.; Badcock, R. A.; Fernando, G. F.

    2006-01-01

    This paper reports on two techniques for creating Fabry-Perot cavities in conventional single- and multi-mode optical fibres. The authors have reported previously on the design and fabrication of extrinsic fibre Fabry-Perot interferometric multi-functional sensors. Here, the authors report on two novel techniques for creating intrinsic fibre optic sensors based on the Fabry-Perot etalon. The first technique involved the use of hydrofluoric acid to preferentially etch the core of the optical fibre. This technique is simple to carry out and provides a cost-effective means for manufacturing intrinsic fibre Fabry-Perot sensors. In the second technique, a 157 nm excimer laser along with a custom-designed beam delivery system was used to ablate (micro-machine) near-paralleled walled cavities through the diameter of the optical fibre (outer diameter of 125 μm). The paper details the experimental methodology and the associated instrumentation for the two techniques. The acid etched and laser ablated cavities were characterised using a 3-D surface profiler, optical and scanning electron microscopy. The feasibility of using these cavities as intrinsic fibre Fabry-Perot strain sensors is demonstrated. This was achieved by surface-mounting the acid etched cavities on to composite tensile test specimens. The output from the optical fibre devices was compared with surface-mounted electrical resistance strain gauges.

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. 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

  12. 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

  13. 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

  14. Deciding Factors for the Referral of a Female Patient to a Specific Hospital from the Viewpoint of Practice-Based Specialists

    PubMed Central

    Baum, S.; Meyberg-Solomayer, G.; Baum, A.; Radosa, J.; Hamza, A.; Gronwald, B.; Friedrich, M.; Solomayer, E. F.; Joukhadar, R.

    2015-01-01

    Background: One of the key points of patient care is the cooperation between practice-based specialists and clinical facilities. The present study was undertaken in order to illustrate the deciding factors, from the viewpoint of practice-based specialists, for the referral of a female patient to a specific hospital. Methods: Altogether a total of 322 practice-based specialists from various disciplines were contacted in writing and sent a questionnaire. In this survey the recipients were questioned about the criteria, in order of importance, applied for the referral of a (female) patient to a specific clinical facility. Results: In the foreground for the referral of a patient to a specific hospital are the aspects of medical quality and competence. On a closer look we find the surgical spectrum, especially the availability of endoscopic and special operations as a main factor. Further factors are a low rate of complications and the availability of modern diagnostic methods. Also evaluated as an important aspect was the easy reachability of a competent consultant. Factors of lower relevance for referral behaviour were personal familiarity with the colleagues employed in the hospital, specific further training events and the course of previous cooperation. Conclusions: A modern diagnostic and therapeutic spectrum coupled with an easy reachability of competent contact partners are the main factors for cooperation from the viewpoint of the practice-based specialist. Of lowest relevance, among others, was the aspect of previous cooperation. Thus, it can be seen that by means of changes in cooperation an improvement in patient care can be achieved at any time. PMID:26097249

  15. 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.

  16. 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.

  17. Distributed torsion sensor based on cascaded coaxial cable Fabry-Perot interferometers

    NASA Astrophysics Data System (ADS)

    Cheng, Baokai; Zhu, Wenge; Hua, Liwei; Liu, Jie; Li, Yurong; Nygaard, Runar; Xiao, Hai

    2016-07-01

    Cascaded coaxial cable Fabry-Perot interferometers (FPI) are studied and demonstrated for distributed torsion measurement. Multiple weak reflectors are implemented on a coaxial cable so that any two consecutive reflectors can form a Fabry-Perot cavity. By fixing the cable sensor in a helical form on a shaft, the distributed torsion of the shaft can be measured by the cascaded Fabry-Perot cavities. A test on a single section shows that the sensor has a linear response with a sensitivity of 1.834 MHz (rad/m)-1 in the range of twisted rate from 0 to 8.726 rad m-1. The distributed torsion sensing capability is useful in drilling process monitoring, structure health monitoring and machine failure detection.

  18. Biochemical sensing with a polymer-based micromachined Fabry-Perot sensor.

    PubMed

    Zhang, Tianhua; Talla, Shantan; Gong, Zhongcheng; Karandikar, Sukrut; Giorno, Rebecca; Que, Long

    2010-08-16

    A white-light source operated polymer-based micromachined Fabry-Perot biochemical sensor is reported. As a refractive-index sensitive optical sensor, its transducing signal varies upon the changes of the effective refractive index in the Fabry-Perot cavity. This sensor is fabricated from PDMS and glass. More specifically, this sensor is a micromachined Fabry-Perot interferometer (microFPI) and is fabricated by bonding a glass substrate and the soft-lithographically patterned PDMS. Several biochemicals have been detected with the microFPI biochemical sensors. Measurements show that rabbit IgG at a concentration of as low as 5 to 50 ng/ml can be detected even without any performance optimization of the devices.

  19. Enhanced random lasing in ZnO nanocombs assisted by Fabry-Perot resonance.

    PubMed

    Chen, Yungting; Chen, Yangfang

    2011-04-25

    The ultraviolet random lasing behavior of an ensemble of ZnO nanocombs has been demonstrated. It is found that the Fabry-Perot resonance induced by nanocomb geometry can greatly enhance random lasing action with a low threshold condition. Besides, the emission spectra exhibit few sharp lasing peaks with a full width at half maximum (FWHM) of less than 0.3 nm and a narrow background emission with a FWHM of about 5 nm. Cathodoluminescence mapping images are utilized to analyze the Fabry-Perot resonance phenomenon. The resonant effect on the lasing system is further confirmed by nanocombs with different resonant cavity lengths. The unique lasing behavior induced by the simultaneous occurrence of Fabry-Perot resonance and random laser action shown here may open up a new possibility for the creation of highly efficient light emitting devices.

  20. Two-dimensional photonic-crystal-based Fabry-Perot etalon.

    PubMed

    Ho, Chong Pei; Pitchappa, Prakash; Kropelnicki, Piotr; Wang, Jian; Cai, Hong; Gu, Yuandong; Lee, Chengkuo

    2015-06-15

    We demonstrate the design, fabrication, and characterization of a polycrystalline-silicon-based photonic crystal Fabry-Perot etalon, which is aimed to work in the mid-infrared wavelengths. The highly reflective mirrors required in a Fabry-Perot etalon are realized by freestanding polycrystalline-silicon-based photonic crystal membranes with etched circular air holes. A peak reflection of 96.4% is observed at 3.60 μm. We propose a monolithic CMOS-compatible fabrication process to configure two such photonic crystal mirrors to be in parallel to form a Fabry-Perot etalon; a filtered transmission centered at 3.51 μm is observed. The quality factor measured is around 300, which is significantly higher than in existing works. This creates the possibility of using such devices for high-resolution applications such as gas sensing and hyperspectral imaging.

  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. 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.

  3. 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

  4. 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.

  5. Axis-I comorbidity in female patients with dissociative identity disorder and dissociative identity disorder not otherwise specified.

    PubMed

    Rodewald, Frauke; Wilhelm-Göling, Claudia; Emrich, Hinderk M; Reddemann, Luise; Gast, Ursula

    2011-02-01

    The aim of this study was to investigate axis-I comorbidity in patients with dissociative identity disorder (DID) and dissociative disorder not otherwise specified (DDNOS). Using the Diagnostic Interview for Psychiatric Disorders, results from patients with DID (n = 44) and DDNOS (n = 22) were compared with those of patients with posttraumatic stress disorder (PTSD) (n = 13), other anxiety disorders (n = 14), depression (n = 17), and nonclinical controls (n = 30). No comorbid disorders were found in nonclinical controls. The average number of comorbid disorders in patients with depression or anxiety was 0 to 2. Patients with dissociative disorders averagely suffered from 5 comorbid disorders. The most prevalent comorbidity in DDNOS and DID was PTSD. Comorbidity profiles of patients with DID and DDNOS were very similar to those in PTSD (high prevalence of anxiety, somatoform disorders, and depression), but differed significantly from those of patients with depression and anxiety disorders. These findings confirm the hypothesis that PTSD, DID, and DDNOS are phenomenologically related syndromes that should be summarized within a new diagnostic category.

  6. 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.

  7. Management of third molar removal with doses of native plasma-derived factor IX (Octanine) and local measures in a female patient with severe hemophilia B: a case report.

    PubMed

    Peisker, Andre; Kentouche, Karim; Raschke, Gregor Franziskus; Schultze-Mosgau, Stefan

    2014-03-01

    Patients with hemophilia are at high risk of bleeding following oral surgery. As an X-linked recessive chromosomal bleeding disorder it is very rare in female patients. This is the first described case of management of third molar removal in a female patient suffering from severe hemophilia B. Excellent hemostasis was achieved by following a protocol using defined pre- and postoperative doses of factor IX and local hemostatic measures of collagen fleece, fibrin glue, primary suture, and tranexamic acid solution. Following defined protocols is essential in the management of oral surgery in patients with hemophilia and helps to prevent postoperative hemorrhages.

  8. 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

  9. 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

  10. 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, ...

  11. Epiglottis cross-sectional area and oropharyngeal airway length in male and female obstructive sleep apnea patients

    PubMed Central

    Ma, Melinda A; Kumar, Rajesh; Macey, Paul M; Yan-Go, Frisca L; Harper, Ronald M

    2016-01-01

    Introduction Obstructive sleep apnea (OSA) is a male-predominant condition, characterized by repeated upper-airway collapse with continued diaphragmatic efforts during sleep, and is accompanied by severe physiological consequences. Multiple morphological aspects, including epiglottis cross-sectional area (CSA) and oropharyngeal airway length (OPAL), can contribute to airway collapsibility in the condition. This study focused on the effects of OSA severity, sex, and race on OPA dimensions. Materials and methods Two high-resolution T1-weighted image series were collected from 40 mild-to-severe OSA subjects (age 46.9±9 years, body mass index 30.4±5.4 kg/m2, Apnea–Hypopnea Index score 32.8±22.5, 28 males) and 54 control subjects (47±9 years, 24.7±3.8 kg/m2, 32 males) using a 3 T magnetic resonance-imaging scanner. Caucasian, Asian, African-American, and “other” subjects constituted the study pool. Both image series were realigned and averaged, and reoriented to a common space. CSA and OPAL were measured, normalized for subject height, and compared between sexes and disease-severity levels in OSA and control subjects. Results Significantly reduced epiglottis CSA appeared only in severe OSA vs controls (P=0.009). OPAL increased significantly with OSA severity vs controls (mild, P=0.027; moderate, P<0.001; severe, P<0.001). OSA males showed increased CSA and greater OPAL than OSA females, which may underlie the increased proportion of affected males with higher apnea–hypopnea index scores. However, no significant differences appeared between CSA and OPAL measures for male and female controls, suggesting that airway morphology may not be the sole contributor for airway collapse. No ethnic or racial differences appeared for CSA or OPAL measures. Conclusion Sex-based reductions in epiglottis CSA and increased OPAL in OSA subjects may enhance airway-collapse vulnerability, more so with greater disease severity, and partially underlie male vs female susceptibility

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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).

  1. Limits of DWDM with gratings and Fabry-Perots and alternate solutions

    NASA Astrophysics Data System (ADS)

    Roychoudhuri, Chandrasekhar; Lee, DongIk; Jiang, Yongyuan; Kittaka, Shigeo; Nara, Masatoshi; Serikov, Vladimir V.; Oikawa, Masahiro

    2003-08-01

    High resolution DWDM devices based on the principles of gratings (planar, Bragg, AWG, etc.) and Fabry-Perots (etalon, Lummer-Gehrke plate, etc.) suffer from inherent limitations due to (i) temporal pulse stretching of data, and (ii) broadening of time integrated spectral (demuxed) fringes. While the relation, dνFdt >1, can account for these limitations, our analysis imply that dnF does not represent real, physical frequencies. We explain the broader implications of this interpretation in designing DWDM devices based on gratings and Fabry-Perots and illustrate how to use prisms, photonic crystals and non-linear devices for very high data rate per channel.

  2. 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

  3. 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

  4. 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.

  5. Polymeric optofluidic Fabry-Perot sensor by direct laser machining and hot embossing.

    PubMed

    Wu, Jing; Day, Daniel; Gu, Min

    2011-05-01

    We present a polymeric-based Fabry-Perot optofluidic sensor fabricated by combining direct laser machining and hot embossing. This technique provides a more elegant solution to conventional hot embossing by increasing the production rate, improving the reproducibility, and further reducing the cost, providing a large working area and flexibility in design modification and customization. As a proof of concept, a Fabry-Perot (F-P) optofluidic sensor was fabricated in polymethyl methacrylate (PMMA) from a micromachined stamp. The experimental results of the sensor agree well with analytical calculations and show a sensitivity of 2.13×10⁻³ RIU/nm for fluid refractive index change.

  6. All-fiber, long-active-length Fabry-Perot strain sensor

    NASA Astrophysics Data System (ADS)

    Pevec, Simon; Donlagic, Denis

    2011-08-01

    This paper presents a high-sensitivity, all-silica, all-fiber Fabry-Perot strain-sensor. The proposed sensor provides a long active length, arbitrary length of Fabry-Perot cavity, and low intrinsic temperature sensitivity. The sensor was micro-machined from purposely-developed sensor-forming fiber that is etched and directly spliced to the lead-in fiber. This manufacturing process has good potential for cost-effective, high-volume production. Its measurement range of over 3000 μɛ, and strain-resolution better than 1 μɛ were demonstrated by the application of a commercial, multimode fiber-based signal processor.

  7. 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

  8. 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.

  9. High temperature Fabry-Perot-based strain sensor for ceramic barrier filters

    SciTech Connect

    Weinstein, S.J.; Vuppala, V.; Gunther, M.; Wang, A.; Murphy, K.; Claus, R.O.

    1993-11-01

    We report results from a program to develop fiber-optic sensor-based instrumentation methods to allow in-situ analysis of ceramic barrier filters. The sensor was an extrinsic Fabry-Perot cavity created between ends of two longitudinally aligned fibers. Filters instrumented with these fiber sensors were tested in a combustor simulator. These tests were performed using silica optical fibers capable of withstanding the high temperature and harsh chemical environment of the combustor. The single-ended approach of the reflective Fabry-Perot sensors is well suited for thermal strain measurements. Results from several tests are presented

  10. Velocimetry of fast surfaces at LLNL using Fabry-Perot interferometry

    SciTech Connect

    McMillan, C.F.; Goosman, D.R.; Parker, N.L.; Steinmetz, L.L.; Chau, H.H.; Huen, T.; Whipkey, R.K.; Perry, S.J.

    1987-05-20

    This report describes the use of the Fabry-Perot interferometer in the fringe mode to measure velocities of fast moving reflecting surfaces. The Doppler shift theory applicable to this situation is described. Formulae are derived for the analysis of the effects of shocked, dispersive, moving transparent media on velocity measurements, including expressions for the velocity of light in a moving medium with moving boundaries. The Fabry-Perot method is compared with other techniques such as VISAR interferometry. A standard configuration is described in detail. Methods of alignment, calibration, and operation are included. Several methods of analysis are compared. (JDH)

  11. The multibeam Fabry-Perot velocimeter: Efficient measurement of high velocities

    SciTech Connect

    1996-07-01

    In support of the Laboratory`s scientific stockpile stewardship mission, we have developed a multibeam Fabry-Perot velocimetry system to more efficiently measure continuous velocities during our experiments. These data are invaluable for testing the adequacy of our hydrodynamic computer modeling codes. A new fiber optic system and Laboratory-designed optical devices allow us to obtain five or even ten continuous velocity records from an experiment using just one Fabry-Perot interferometer. Before the advent of this system, we could obtain only one record per interferometer. We have also developed a dual-cavity interferometer that greatly facilitates reading the interference fringes recorded during our experiments.

  12. 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

  13. 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

  14. 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

  15. 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

  16. Cytomegalovirus-associated splenic infarcts in a female patient with Factor V Leiden mutation: a case report

    PubMed Central

    Atzmony, Lihi; Saar, Nili; Chundadze, Tamar; Arbel, Yaron; Justo, Dan; Mashav, Noa

    2008-01-01

    Introduction Cytomegalovirus-associated thrombosis has rarely been reported in the medical literature, and if so, mainly in immunocompromized patients. Case presentation We report the case of a 36-year-old Caucasian woman with acute cytomegalovirus infection presenting with spontaneous splenic infarcts. Trans-esophageal echocardiography did not show any vegetations or mural thrombi. The patient was also found to be heterozygous for the Factor V Leiden mutation. Anticoagulation treatment was considered but ruled out since cytomegalovirus was the obvious trigger for thrombosis in this patient. To the best of our knowledge, this is only the third report to date of cytomegalovirus-associated splenic infarcts. Conclusion This case report serves as additional evidence for the role of cytomegalovirus in thrombosis. PMID:19087249

  17. 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.

  18. Clinical usefulness of the transobturator sub-urethral tape in the treatment of stress urinary incontinence in female patients with spinal cord lesion

    PubMed Central

    Pannek, Juergen; Bartel, Peter; Gocking, Konrad

    2012-01-01

    Objectives To evaluate the clinical usefulness of transobturator sub-urethral tapes for the treatment of stress urinary incontinence in women with spinal cord injury. Method and subjects Chart review for all female patients with spinal cord injury who underwent implantation of a transobturator sub-urethral tape for treatment of stress urinary incontinence at our institution. Results Nine women, median age 45.1 years, received a sub-urethral transobturator tape in the period November 2007 to September 2010. Four patients had paraplegia and five had tetraplegia. Seven women performed intermittent catheterization. At follow up, three of the nine patients were either cured or vastly improved. One major late complication (urethral erosion) occurred. Five of the six patients without treatment success underwent second-line treatment (artificial sphincter or urinary diversion). Conclusion In our case series, implantation of transobturator sub-urethral tapes in women with stress urinary continence due to intrinsic sphincter deficiency and a low leak point pressure led to unfavorable results. PMID:22525323

  19. 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

  20. 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.

  1. 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

  2. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

    PubMed

    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

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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

  14. The effects of aquatic, isometric strength-stretching and aerobic exercise on physical and psychological parameters of female patients with fibromyalgia syndrome

    PubMed Central

    Sevimli, Dilek; Kozanoglu, Erkan; Guzel, Rengin; Doganay, Ahmet

    2015-01-01

    [Purpose] There are various treatment modalities for fibromyalgia syndrome (FMS), which is characterized by widespread pain and fatigue. The aim of this study was to investigate the effects of aquatic, aerobic and isometric strength-stretching exercises on the physical and psychological parameters of patients with FMS. [Subjects and Methods] Seventy five female patients with FMS were randomly selected and divided into three groups. Patients (18–50 years) were treated for 3 months using one of three methods: a home-based isometric strength and stretching exercise program (ISSEP), a gym-based aerobic exercise program (AEP), and a pool-based aquatic aerobic exercise program (AAEP). Items evaluated were: the number of tender points, Visual Analog Scale (VAS), Fibromyalgia Impact Questionnaire (FIQ), the Six-Minute Walk Test (6MWT), SF-36 physical and mental health scores, and the Beck Depression Inventory (BDI). [Results] The results revealed that AAEP was the most effective treatment of the three. All of the groups showed significant improvements in all variables between pre-and post-test, except the mean values of VAS and BDI in ISSEP. [Conclusion] The results suggest that aquatic aerobic exercise program is more effective than AEP and ISSEP in the treatment of FMS. PMID:26180320

  15. 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

  16. A case-control study about the association between vascular endothelial growth inhibitor gene polymorphisms and breast cancer risk in female patients in Northeast China

    PubMed Central

    Han, Shaoli; Liu, Lei; Xu, Fengyan; Chen, Shuang; Yuan, Weiguang; Fu, Zhenkun; Li, Dalin; Li, Dianjun

    2016-01-01

    Objective The inhibition of the neovascularization in tumors is a potential therapeutic target of cancer. Vascular endothelial growth inhibitor (VEGI) is a member of the TNF superfamily which has the ability to suppress the formation of new vessels in tumors. In order to study the association between VEGI gene polymorphisms and breast cancer risk, a case-control study was conducted in Chinese Han women in Northeast China. Methods Our study involved 708 female breast cancer patients and 685 healthy volunteers. Four SNPs of VEGI gene were analyzed through the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The association between VEGI gene polymorphisms and breast cancer risk was analyzed in our study. The relation between VEGI gene variants and clinical features of breast cancer including lymph node (LN) metastasis, estrogen receptor (ER), progestrogen receptor (PR), tumor protein 53 (p53), human epidermal growth factor receptor 2 (Her-2) and triple negative (ER-/PR-/Her-2-) status was analyzed as well. Results We found that the CT genotype and T allele of rs6478106 were more frequent in patients than in controls. There was also a statistical difference in the distribution of Crs6478106Grs4263839 haplotype between patients and controls. In addition, SNP rs6478106 and rs4979462 were related with the Her-2 status. Conclusions Our results suggest that VEGI gene variants may be related to the breast cancer risk and the clinical features of breast cancer in Chinese Han women in Northeast China. PMID:27647972

  17. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.

    PubMed

    Salem, Nabeel J M; Hempel, Maja; Heiliger, Katrin-Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad

    2013-06-01

    A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.

  18. Analgesic Response to Intravenous Ketamine Is Linked to a Circulating microRNA Signature in Female Patients With Complex Regional Pain Syndrome.

    PubMed

    Douglas, Sabrina R; Shenoda, Botros B; Qureshi, Rehman A; Sacan, Ahmet; Alexander, Guillermo M; Perreault, Marielle; Barrett, James E; Aradillas-Lopez, Enrique; Schwartzman, Robert J; Ajit, Seena K

    2015-09-01

    Although ketamine is beneficial in treating complex regional pain syndrome (CRPS), a subset of patients respond poorly to therapy. We investigated treatment-induced microRNA (miRNA) changes and their predictive validity in determining treatment outcome by assessing miRNA changes in whole blood from patients with CRPS. Blood samples from female patients were collected before and after 5 days of intravenous ketamine administration. Seven patients were responders and 6 were poor responders. Differential miRNA expression was observed in whole blood before and after treatment. In addition, 33 miRNAs differed between responders and poor responders before therapy, suggesting the predictive utility of miRNAs as biomarkers. Investigation of the mechanistic significance of hsa-miR-548d-5p downregulation in poor responders showed that this miRNA can downregulate UDP-glucuronosyltransferase UGT1A1 mRNA. Poor responders had a higher conjugated/unconjugated bilirubin ratio, indicating increased UGT1A1 activity. We propose that lower pretreatment levels of miR-548d-5p may result in higher UDP-GT activity, leading to higher levels of inactive glucuronide conjugates, thereby minimizing the therapeutic efficacy of ketamine in poor responders. Differences in miRNA signatures can provide molecular insights distinguishing responders from poor responders. Extending this approach to other treatment and outcome assessments might permit stratification of patients for maximal therapeutic outcome. Perspective: This study suggests the usefulness of circulating miRNAs as potential biomarkers. Assessing miRNA signatures before and after treatment demonstrated miRNA alterations from therapy; differences in miRNA signature in responders and poor responders before therapy indicate prognostic value. Mechanistic studies on altered miRNAs can provide new insights into disease.

  19. Acupressure versus dilution of fentanyl to reduce incidence of fentanyl-induced cough in female cancer patients: a prospective randomized controlled study

    PubMed Central

    Doctor, Jeson Rajan; Kapila, Savi J; Gehdoo, Raghbirsingh P; Divatia, Jigeeshu V

    2016-01-01

    Background Fentanyl-induced cough (FIC) is a transient condition with a reported incidence of 18% to 65% depending on the dose and route of administration of fentanyl. Nonpharmacological methods to prevent FIC are more cost-effective than medications. Dilution of fentanyl has a proven role in the prevention of FIC. Acupressure can also prevent FIC because it has a proven role in the treatment of cough. Methods This study included 225 female patients with an American Society of Anesthesiologists physical status of I or II who were randomly divided into 3 groups of 75 patients each. Patients in the control group received undiluted fentanyl at 3 µg/kg, patients in the acupressure group received undiluted fentanyl at 3 µg/kg with acupressure, and patients in the dilution group received diluted fentanyl at 3 µg/kg. Coughing was noted within 2 min of fentanyl administration. The severity of FIC was graded as mild (1–2 coughs), moderate (3–4 coughs), or severe (≥5 coughs). The timing of coughs was also noted. Results The incidence of FIC was 12.7% in the control group, 6.8% in the dilution group, and 1.3% in the acupressure group. The difference in the incidence of cough was statistically significant (P = 0.008) between the control and acupressure groups. The difference in the severity of cough among the groups was not statistically significant. The median onset time of cough among all groups was 9 to 12 seconds. Conclusions The application of acupressure prior to administration of fentanyl significantly reduces the incidence of FIC. Dilution of fentanyl also reduces the incidence of FIC, but the difference is not statistically significant. PMID:27274367

  20. Comparison of Clinicopathological Features and Treatments between Young (≤40 Years) and Older (>40 Years) Female Breast Cancer Patients in West China: A Retrospective, Epidemiological, Multicenter, Case Only Study.

    PubMed

    Wang, Ke; Ren, Yu; Li, Hongyuan; Zheng, Ke; Jiang, Jun; Zou, Tianning; Ma, Binlin; Li, Hui; Liu, Qilun; Ou, Jianghua; Wang, Ling; Wei, Wei; He, Jianjun; Ren, Guosheng

    2016-01-01

    The incidence of young cases of breast cancer is higher in China compared to the western world. We aimed to explore differences in risk factors, clinicopathological features and treatment modes of young female breast cancer compared to older patients in West China. We collected clinical information from 12,209 female breast cancer patients in West China, including risk factors, clinicopathological features and treatment modes, from January 2010 to December 2012. Chi-square tests and the multivariate logistic regression analysis were applied for statistical analysis. There were 2,682 young (≤40 years) cases and 9,527 older cases at the time of breast cancer diagnosis. Young patients had a greater tumor diameter at diagnosis, and a higher probability of axillary lymph node and distant metastasis (P < 0.05). The progesterone receptor positive expression rate, estrogen receptor/progesterone receptor double positive expression rate, and human epidermal growth factor receptor 2 (HER2) negative expression rate was higher in young patients compared to older patients (P < 0.05). For young patients, the age at menarche was earlier, they had lower marriage rates, fewer pregnancies and births, and a lower breastfeeding rate (P < 0.05). A higher proportion of young patients underwent advanced operations, neoadjuvant and adjuvant chemotherapy, radiotherapy, and endocrine therapy compared to older patients (P < 0.05). We found significant differences in the clinicopathological features, risk factors and treatment modes between young (≤40 years) and older (>40 years) female breast cancer patients in West China. As some of these results differ from those found in the western female population, it is likely that the mechanism of tumorigenesis of young female breast cancer patients in West China may differ from that in western developed countries. Further investigation into the regional differences in breast cancer tumorigenesis is warranted.