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  1. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  2. Turner Syndrome

    MedlinePlus

    ... turnersyndrome. html • Eunice Kennedy Shriver National Institutes of Child Health & Human Development (NIH): www. nichd. nih. gov/ health/ topics/ Turner_ Syndrome. cfm • Mayo Clinic: www. mayoclinic. com/ health/ turner- ...

  3. Turner syndrome

    MedlinePlus

    ... at birth is often smaller than average. A child with Turner syndrome is much shorter than children who are the ... Growth hormone may help a child with Turner syndrome grow taller. ... started when the girl is 12 or 13 years old. These help trigger ...

  4. Overlapping Numerical Cognition Impairments in Children with Chromosome 22q11.2 Deletion or Turner Syndromes

    ERIC Educational Resources Information Center

    Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.

    2008-01-01

    Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

  5. Genetic Features of Turner Syndrome

    MedlinePlus

    ... Current Studies Publications Lab Staff Contact Info Links Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  6. Turner syndrome with primary hyperparathyroidism

    PubMed Central

    Park, Jungmee; Kim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom Hee; Yoon, Jong Ho; Jeong, Woon-Young

    2013-01-01

    Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium and parathyroid hormone. Dual-energy X-ray absorptiometry showed severe osteopo-rosis (z score, -3.5). Ultrasound and 99mTc scintigraphy of parathyroid glands showed an adenoma in the right inferior gland. She was diagnosed with primary hyperparathyroidism due to an adenoma of the parathyroid gland. After excision of the adenoma, the patient's serum calcium and parathyroid hormone levels returned to normal. Although only a few cases of Turners syndrome with primary hyperparathyroidism have been reported, hyperparathyroidism should be considered in cases of Turner syndrome with severe osteoporosis and hypercalcemia. PMID:24904858

  7. Parsonage-Turner Syndrome

    PubMed Central

    Radecki, Jeffrey

    2010-01-01

    Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is reported in various clinical situations, including postoperatively, postinfectious, posttraumatic, and postvaccination. The identification of the syndrome in the postoperative patient remains a challenge as symptoms may easily be attributed to sequelae of surgical positioning, postoperative recovery, or postanesthetic block pain. The purpose of this review is to bring forth salient, identifiable factors which may assist the surgical clinician in identifying the condition sooner. An early and proper diagnosis affords the opportunity to treat the patient accordingly and to the satisfaction of both surgeon and patient. PMID:21886536

  8. Aortic dimensions in Turner syndrome.

    PubMed

    Quezada, Emilio; Lapidus, Jodi; Shaughnessy, Robin; Chen, Zunqiu; Silberbach, Michael

    2015-11-01

    In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. © 2015 Wiley Periodicals, Inc. PMID:26118429

  9. Anatomy of turner syndrome.

    PubMed

    Granger, Andre; Zurada, Anna; Zurada-Zielińska, Agnieszka; Gielecki, Jerzy; Loukas, Marios

    2016-07-01

    Turner syndrome (TS) is one of the most common sex chromosome abnormalities and results from total or partial monosomy of the X chromosome. It occurs in 1 in 2000 newborn girls and is also believed to be present in a larger proportion of conceptuses. There are various anatomic anomalies that have been associated with TS and the consequences of late recognition of these anomalies can be devastating. Aortic dilation and dissection occur at increased rates in TS patients and contribute to the decreased life expectancy of these patients. Such cases have prompted the need for early identification and continuous monitoring. Other anatomic variations increase morbidity in this population, and negatively impact the social and reproductive aspects of their lives. In this review, we summarize the cardiovascular, neurological, genitourinary, otolaryngolical, craniofacial, and skeletal defects associated with TS. To elucidate these morphological variations, novel illustrations have also been constructed. Clin. Anat. 29:638-642, 2016. © 2016 Wiley Periodicals, Inc. PMID:27087450

  10. Clinical Features of Turner Syndrome

    MedlinePlus

    ... growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights ... easily treated with thyroid hormone supplements. Cognitive Function/Educational Issues In general, individuals with Turner syndrome have ...

  11. Autoimmunity and Turner's syndrome.

    PubMed

    Lleo, Ana; Moroni, Luca; Caliari, Lisa; Invernizzi, Pietro

    2012-05-01

    Turner Syndrome (TS) is a common genetic disorder, affecting female individuals, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. TS is closely associated to the presence of autoantibodies and autoimmune diseases (AID), especially autoimmune thyroiditis and inflammatory bowel disease. Despite the fact that the strong association between TS and AID is well known and has been widely studied, the underlying immunopathogenic mechanism remains partially unexplained. Recent studies have displayed how TS patients do not show an excess of immunogenic risk markers. This is evocative for a higher responsibility of X-chromosome abnormalities in the development of AID, and particularly of X-genes involved in immune response. For instance, the long arm of the X chromosome hosts a MHC-locus, so the loss of that region may lead to a deficiency in immune regulation. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of autoimmune manifestations. Individuals with TS need life-long medical attention. As a consequence of these findings, early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients. PMID:22154619

  12. Fertility in Turner syndrome.

    PubMed

    Hewitt, Jacqueline K; Jayasinghe, Yasmin; Amor, David J; Gillam, Lynn H; Warne, Garry L; Grover, Sonia; Zacharin, Margaret R

    2013-11-01

    There is increasing interest in fertility and use of assisted reproductive technologies for women with Turner syndrome (TS). Current parenting options include adoption, surrogacy, and spontaneous and assisted reproduction. For women with TS, specific risks of pregnancy include higher than usual rates of spontaneous abortion, foetal anomaly, maternal morbidity and mortality. Heterologous fertility assistance using oocytes from related or unrelated donors is an established technique for women with TS. Homologous fertility preservation includes cryopreservation of the patient's own gametes prior to the progressive ovarian atresia known to occur: preserving either mature oocytes or ovarian tissue containing primordial follicles. Mature oocyte cryopreservation requires ovarian stimulation and can be performed only in postpubertal individuals, when few women with TS have viable oocytes. Ovarian tissue cryopreservation, however, can be performed in younger girls prior to ovarian atresia - over 30 pregnancies have resulted using this technique, however, none in women with TS. We recommend consideration of homologous fertility preservation techniques in children only within specialized centres, with informed consent using protocols approved by a research or clinical ethics board. It is essential that further research is performed to improve maternal and foetal outcomes for women with TS. PMID:23844676

  13. Turner's syndrome presenting as metabolic bone disease.

    PubMed

    Kamalanathan, Sadishkumar; Balachandran, Karthik; Ananthakrishnan, Ramesh; Hamide, Abdoul

    2012-07-01

    Turner's syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner's syndrome presenting with chronic kidney disease and renal osteodystrophy. PMID:22837932

  14. Cognitive Profile of Turner Syndrome

    ERIC Educational Resources Information Center

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2009-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

  15. Molecular diagnosis of Turner's syndrome.

    PubMed Central

    Gicquel, C; Cabrol, S; Schneid, H; Girard, F; Le Bouc, Y

    1992-01-01

    Turner's syndrome is a common disorder which occurs in around 1/3000 live births in girls. Diagnostic use of polymorphic DNA markers for the X chromosome could help to reduce the number of time consuming karyotype analyses needed. The M27 beta probe maps on the X chromosome to Xcen-Xp11-22 and in 83% of female subjects detects heterozygosity with multiallelic polymorphism. In Southern blotting, a single X chromosome yields a single hybridisation band. In this study, genomic DNA was extracted from leucocytes of 49 patients with Turner's syndrome (karyotypes: 45,XO, n = 29; 45,XO/46,XX, n = 4; 46,Xi(Xq), n = 1; 45,XO/46,Xi(Xq), n = 4; 45,XO/46,Xr(X), n = 4; 45,XO/46,XY, n = 4; 46,XXp-, n = 3), digested with EcoRI or HindIII, and analysed by Southern blotting. The molecular data for each patient were compared with DNA controls (homozygous 46,XX, heterozygous 46,XX and 46,XY DNA). A single band of reduced intensity compared to homozygous 46,XX control DNA was seen in 41 cases. Two hybridisation bands of different intensities were seen in four patients, in one of whom mosaicism was suspected on the basis of molecular analysis, despite a 45,XO karyotype. In four cases, Turner's syndrome failed to be detected: one 45,XO/46,XX mosaicism with only 4% of 45,XO cells and three distal Xp deletions. DNA analysis appears to be a useful and rapid tool in screening for Turner's syndrome and could be an alternative to cytogenetic analysis in diagnosing the disorder when severe growth retardation or delayed puberty are not accompanied by a Turner phenotype. Images PMID:1355559

  16. Reproductive Issues in Women with Turner Syndrome.

    PubMed

    Folsom, Lisal J; Fuqua, John S

    2015-12-01

    Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age. PMID:26568488

  17. Multimodality cardiac imaging in Turner syndrome.

    PubMed

    Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H

    2016-06-01

    Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome. PMID:26843123

  18. Language and Literacy in Turner Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  19. What Are the Symptoms of Turner Syndrome?

    MedlinePlus

    ... at higher risk for type 2 diabetes. Thyroid. Many people with Turner syndrome have thyroid problems. The most common one is hypothyroidism, or an underactive thyroid gland. Cognitive. People with ...

  20. Turner syndrome: contemporary thoughts and reproductive issues.

    PubMed

    Reindollar, Richard H

    2011-07-01

    Turner syndrome is a common genetic disorder that has been classically associated with a 45,X karyotype. Several X-chromosomal abnormalities have been identified in these patients, many of which involve mosaicism. These patients have variable but predictable phenotypic findings and are at risk for development of endocrine, autoimmune, and structural abnormalities. As many as 1.5% of the population with Turner syndrome may develop dissection and rupture of the ascending aorta; the presence of abnormalities of the cardiac tree and hypertension increase this risk, but their absence does not preclude it. Rupture has occurred at aortic diameters smaller than previously reported for other patient populations. Five percent or more of women with Turner syndrome may have abbreviated menstrual function before developing amenorrhea and hypergonadotropic hypogonadism. An estimated 1 to 2% of all patients may become pregnant. Only three patients with Turner syndrome (and two of them with streak ovaries) have ever been reported to become pregnant after developing amenorrhea and elevated gonadotropin levels. Pregnancy, either spontaneous or more commonly from donor oocyte, increases maternal mortality rate for these women by an estimated ≥100 fold. It appears that all Turner women are at risk of rupture; neither prior spontaneous menses nor age >30 years provides protection. In addition, the literature suggests that the physiological changes of pregnancy may increase the risk of rupture in future years after delivery for those Turner women who seemingly made it safely through pregnancy. The use of the term PRIMARY OVARIAN INSUFFICIENCY (POI) for Turner syndrome gives me some discomfort. For women with 46,XX hypergonadotropic hypogonadism, POI accurately provides the suggestion that follicular depletion is often not complete (although remissions are usually self-limiting and the vast majority of patients will not spontaneously become pregnant). I clearly understand the need to

  1. Challenging pain syndromes: Parsonage-Turner syndrome.

    PubMed

    Smith, Clark C; Bevelaqua, Anna-Christina

    2014-05-01

    Parsonage-Turner syndrome (PTS) is a rare disorder typically characterized by an abrupt onset of upper extremity pain followed by progressive neurologic deficits, including weakness, atrophy, and occasionally sensory abnormalities. The exact cause and pathophysiology of PTS are complex and incompletely understood. Autoimmune, genetic, infectious, and mechanical processes have all been implicated. No specific treatments have been proven to reduce neurologic impairment or improve the prognosis of PTS. Most patients with PTS are treated with a multidisciplinary approach that includes both physical therapy and pharmacologic treatment, often with multiple agents. Further research is needed. PMID:24787332

  2. Uterine Development in Turner Syndrome

    PubMed Central

    Bakalov, Vladimir K.; Shawker, Thomas; Ceniceros, Irene; Bondy, Carolyn A.

    2007-01-01

    Objective To evaluate uterine development of women with Turner syndrome (TS) receiving conventional medical care. Study design In a cross sectional study we used ultrasound for uterine evaluation in 86 women with TS aged 18–45 years participating in an intramural NIH study, and who had abnormal karyotypes in >70% of white blood cells. Outcomes were uterine dimensions and shape. Information on hormone treatment was obtained by personal interview. Results Twenty five percent had a mature in size and shape uterus, and 31% had an immature uterus, with the remainder in a transitional category. Twenty percent of all participants were not taking hormone replacement (HRT) in the preceding year. The majority on treatment were taking conjugated estrogens or oral contraceptives. Factors associated with uterine maturity were history of spontaneous puberty, and duration and type of HRT, with estradiol based treatment being the most effective. The age at starting HRT was not a critical factor. Conclusions Women with TS may develop a normal uterus even at a late start of HRT given adequate duration of treatment and regardless of karyotype. PMID:17961700

  3. Fertility preservation in Turner syndrome.

    PubMed

    Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel

    2016-01-01

    Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS 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 severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches. PMID:26677790

  4. Anterior segment dysgenesis in mosaic Turner syndrome

    PubMed Central

    Lloyd, I; Haigh, P; Clayton-Smith, J; Clayton, P; Price, D; Ridgway, A; Donnai, D

    1997-01-01

    AIMS/BACKGROUND—Females with Turner syndrome commonly exhibit ophthalmological abnormalities, although there is little information in the literature documenting findings specific to Turner syndrome mosaics. Ophthalmic findings are described in four patients with mosaic Turner syndrome. All had anterior chamber abnormalities and all four had karyotypic abnormalities with a 45, X cell line. The possible relation between the karyotypic and the phenotypic findings in these patients is discussed.
METHODS—Four girls with mosaic Turner syndrome underwent a full ophthalmological assessment, including examination under anaesthesia where indicated.
RESULTS—Three of the four patients presented with congenital glaucoma. Two had the karyotype 45, X/46, X, idic(Y) and one a 45, X/47, XXX karyotype. The remaining child had a Rieger malformation of the iris and the karyotype 45, X/46, X, r(X).
CONCLUSIONS—These findings suggest that Turner syndrome mosaicism (where there are two abnormal cell lines) is associated with anterior segment dysgenesis. The findings in these four patients are compared with those seen in other mosaic phenotypes and it is postulated that the presence of two or more genetically different cell lines may have an adverse effect on anterior segment development.

 PMID:9349149

  5. The forensic implications of Turner's syndrome.

    PubMed

    Power, Theresa; Langlois, Neil E I; Byard, Roger W

    2014-05-01

    Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing. PMID:24313855

  6. [Psychiatric symptoms can reveal Turner syndrome].

    PubMed

    Thusgaard, Helle; Arnfred, Sidse Marie H

    2013-02-01

    Turner syndrome is usually diagnosed by physical characteristics, i.e. low height and infertility. This case report presents a woman, who was referred to a chromosome analysis at the age of 35 years, due to a specific pattern of psychiatric symptoms. She felt childish, had strong emotional bonds to her family, yet lacked friendships and intimate relationships. She had moderate symptoms of obsessive-compulsive disorder with a sexual content. Confronted with this constellation of symptoms, psychiatrists and psychologists should be aware of Turner syndrome. PMID:23402244

  7. Turner's syndrome: challenges of late diagnosis.

    PubMed

    Lee, Marilyn Cheng; Conway, Gerard S

    2014-04-01

    Girls and women with Turner's syndrome who come to medical attention older than 12 years present a challenge of medical management. Puberty is already delayed and some compromises have to be made in adjusting the timing of artificially induced puberty to optimise overall outcome with respect to stature, secondary sex characteristics, and psychosocial endpoints. Additionally, individuals who present with primary amenorrhoea to adult services might miss the opportunity for effective growth hormone treatment. Further, induction of puberty regimens lack an evidence base or even clear guidelines for the timing and dose of oestrogen replacement. We have searched the scientific literature to inform management of Turner's syndrome. PMID:24703051

  8. Increasing School Nurse Awareness of Turner Syndrome

    ERIC Educational Resources Information Center

    Ardary, Darlene A.

    2007-01-01

    Turner syndrome, a genetic disorder that affects only females, can cause various physical, emotional, and educational disabilities. This disorder may go undiagnosed until school age or later. Short stature and lack of spontaneous puberty are common characteristics and can lead to teasing by peers. Some experience attention deficit and the…

  9. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    PubMed Central

    Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. PMID:8555850

  10. Ullrich-Turner syndrome and neurofibromatosis-1

    SciTech Connect

    Schorry, E.K.; Lovell, A.M.; Saal, H.M.; Milatovich, A.

    1996-12-30

    There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple cafe-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 cafe-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. 14 refs., 2 figs.

  11. Familial Turner syndrome: the importance of information.

    PubMed

    Periquito, Isabel; Carrusca, Catarina; Morgado, Joana; Robalo, Brígida; Pereira, Carla; de Lurdes Sampaio, Maria

    2016-05-01

    Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum. PMID:26824976

  12. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

    ERIC Educational Resources Information Center

    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  13. Turner Syndrome: Four Challenges Across the Lifespan

    PubMed Central

    Sutton, Erica J; McInerney-Leo, Aideen; Bondy, Carolyn A; Gollust, Sarah E; King, Donnice; Biesecker, Barbara

    2008-01-01

    Turner syndrome (TS) is a sex chromosome condition that occurs in approximately 1/2500 live female births. Despite the prevalence of this chromosomal condition, the challenges these women face throughout their lives are not fully understood. This qualitative research study aimed to characterize the subjective experiences of individuals with Turner syndrome throughout their lifespan, to investigate their concerns and obstacles, and to offer insight into the strengths and weaknesses of health care delivery, as they perceived them. Ninety-seven girls and women with TS and 21 parents consented to participate in this interview study. Interviews were semi-structured and open-ended in design. Questions sought to elicit responses relating to existing concerns associated with their condition and positive and negative health care experiences. Participants were divided into four age categories (childhood, adolescence, adulthood, and mature adulthood) to facilitate a comparative analysis across the age spectrum. Regardless of age, infertility was the most frequently cited concern followed closely by short stature. Sexual development and function and general health were also viewed as challenges by a number of participants in each age group. Although the relative weight of these four concerns tended to shift based upon the individual’s age and life experiences, all four issues remained significant throughout the lifespan. Enhanced awareness of the evolving physical and psychological challenges faced by girls and women with TS may help health care providers improve the quality of life for these individuals. PMID:16252273

  14. [X isochromosomes: delayed diagnosis of Turner's syndrome].

    PubMed

    Cuesta Hernández, M; Rueda Valencia, M E; Pérez Rodríguez, O; López de Lara, D

    2015-01-01

    Turner syndrome is diagnosed by the combination of certain phenotypic characteristics with the absence of one of the X chromosome. This absence may be total or partial, as occurs in isochromosomes Xq. The phenotypic consequences of these depend on two factors: the characteristics of the lost genes and the percentage of cells 45, X in mosaicisms. The clinical features also change with the cytogenetic pattern. Short stature is the most common phenotypic manifestation, as it is due to the haploinsufficiency of the SHOX gene on the short arm of X chromosomes. Thus, when there is isochromosomes on the long arms, short stature is always present. However, the typical features of this syndrome could be absent, and the diagnosis can be delayed. This occurred in our patients, who will not be able to obtain optimum benefits with growth hormone treatment. PMID:25475905

  15. Turner syndrome and genetic polymorphism: a systematic review

    PubMed Central

    de Marqui, Alessandra Bernadete Trovó

    2015-01-01

    Objective: To present the main results of the literature on genetic polymorphisms in Turner syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. Data sources: The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. Data synthesis: The polymorphisms investigated in patients with Turner syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner syndrome. The role of single nucleotide polymorphisms in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Conclusions: Genetic polymorphisms appear to be associated with Turner syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner syndrome. PMID:25765448

  16. The cognitive phenotype of Turner syndrome: Specific learning disabilities.

    PubMed

    Mazzocco, Michèle M M

    2006-10-01

    Global descriptors of the cognitive phenotype of Turner syndrome are well established and are thus commonly referred to. For example, Turner syndrome is a proposed etiology of the nonverbal learning disability - because of reported relative strengths in verbal skills, and relatively weaker nonverbal skills - particularly in arithmetic, select visuospatial skills, and processing speed. This profile is observed throughout and beyond the school age years. Reliance on this gross level description of the cognitive profile (e.g., nonverbal learning disability) may be helpful as a starting point when determining whether an individual with Turner syndrome has educational needs, but it carries limited practical significance when determining the specific nature of these needs. The limitations stem from the fact that the severity of the cognitive profile is highly variable among individuals with Turner syndrome; that the "nonverbal" difficulties are specific rather than widespread; and that any individual with Turner syndrome may also manifest cognitive characteristics independent of Turner syndrome. In view of the increased risk for specific cognitive difficulties, a detailed assessment prior to the onset of formal schooling (or at the time of diagnosis, when diagnosis occurs after 5 years of age) can play an important role in determining school readiness and potential need for educational support among individual girls with Turner syndrome. PMID:19750135

  17. Dentofacial morphology in Turner syndrome karyotypes.

    PubMed

    Rizell, Sara

    2012-01-01

    The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from Göteborg, Uppsala and Umeå were participating. Cephalometric analysis, cast model analysis concerning palatal height, dental arch morphology and dental crown width were performed. Eighteen primary teeth were analysed in polarized light microscopy, scanning electron microscopy, microradiography and X-ray microanalysis were performed. The TS females were divided according to karyotype into: 1 45,X; 2 45,X/46,XX; 3 isochromosome; 4 other. Compared to healthy females, TS were found to have a flattened cranial base as well as small and retrognathic jaws with a posterior inclination. The maxillary dentoalveolar arch was narrower and longer, while the mandibular dental arch was wider and longer in TS compared to controls. The palatal height did not differ comparing TS and healthy females. The dental crown width was smaller in TS for both permanent and primary teeth. Aberrant elemental composition, prism pattern and lower mineral density were found in TS primary enamel compared to enamel in primary teeth from healthy girls. Turner syndrome karyotype was found having an impact on craniofacial morphology, with the mosaic 45,X/46,XX exhibiting a milder mandibular retrognathism as well as fewer cephalometric variables differing from controls compared to other karyotypes. Also for the dentoalveolar arch morphology the 45,X/46,XX group had fewer variables differing from healthy females. The isochromosome TS group exhibited the smallest dental crown width for several teeth, while 45,X/46,XX hade the largest dental crown with for some teeth and fewer teeth than both 45,X and isochromosomes that differed from controls. Thus, the mosaic 45,X/46,XX seemed to exhibit a milder phenotype, possibly due to presence of healthy 46,XX cell lines. PMID:22834215

  18. Imaging of cardiovascular risk in patients with Turner's syndrome

    PubMed Central

    Marin, A.; Weir-McCall, J.R.; Webb, D.J.; van Beek, E.J.R.; Mirsadraee, S.

    2015-01-01

    Turner's syndrome is a disorder defined by an absent or structurally abnormal second X chromosome and affects around 1 in 2000 newborn females. The standardised mortality ratio in Turner's syndrome is around three-times higher than in the general female population, mainly as a result of cardiovascular disorders. Most striking is the early age at which Turner's syndrome patients develop the life-threatening complications of cardiovascular disorders compared to the general population. The cardiovascular risk stratification in Turner's syndrome is challenging and imaging is not systematically used. The aim of this article is to review cardiovascular risks in this group of patients and discuss a systematic imaging approach for early identification of cardiovascular disorders in these patients. PMID:25917542

  19. Imaging of cardiovascular risk in patients with Turner's syndrome.

    PubMed

    Marin, A; Weir-McCall, J R; Webb, D J; van Beek, E J R; Mirsadraee, S

    2015-08-01

    Turner's syndrome is a disorder defined by an absent or structurally abnormal second X chromosome and affects around 1 in 2000 newborn females. The standardised mortality ratio in Turner's syndrome is around three-times higher than in the general female population, mainly as a result of cardiovascular disorders. Most striking is the early age at which Turner's syndrome patients develop the life-threatening complications of cardiovascular disorders compared to the general population. The cardiovascular risk stratification in Turner's syndrome is challenging and imaging is not systematically used. The aim of this article is to review cardiovascular risks in this group of patients and discuss a systematic imaging approach for early identification of cardiovascular disorders in these patients. PMID:25917542

  20. How Do Health Care Providers Diagnose Turner Syndrome?

    MedlinePlus

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Turner syndrome? Skip sharing on social media links Share this: Page Content Health care providers use a combination of physical symptoms and ...

  1. [Vulvar lichen sclerosus in a girl with Turner syndrome].

    PubMed

    Ocampo, Dolores; González, Verónica

    2014-08-01

    Dermatological complications in Turner syndrome are infrequent but occasionally cause significant morbidity. Lichen sclerosus (LS) is a chronic inflammatory mucocutaneous affection characterized by pruritus in the anogenital area. It is yet not clear its pathophysiology but it's linked with genetic factors and autoimmunity. This is a case report of a girl with Turner syndrome with growth hormone treatment that started with vulvar pruritus and was diagnosed as lichen sclerosus. PMID:24955917

  2. An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.

    PubMed

    Dzenis, I G; Antipina, N N

    1979-01-01

    Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X/46,XX/47,XXX; 45,X/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed. PMID:535888

  3. Atypical Functional Brain Activation During a Multiple Object Tracking Task in Girls With Turner Syndrome: Neurocorrelates of Reduced Spatiotemporal Resolution

    PubMed Central

    Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.

    2010-01-01

    Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a multiple object tracking task during functional magnetic resonance (fMRI) imaging. Participants actively tracked a target among six distracters or passively viewed the animations. Neural activation in girls with Turner syndrome during object tracking overlapped with but was dissimilar to the canonical frontoparietal network evident in typically developing controls and included greater limbic activity. Task performance and atypical functional activation indicate anomalous development of cortical and subcortical temporal and spatial processing circuits in girls with Turner syndrome. PMID:20441384

  4. Mosaic Turner syndrome: cytogenetics versus FISH.

    PubMed

    Abulhasan, S J; Tayel, S M; al-Awadi, S A

    1999-05-01

    Twenty-two cases with Turner syndrome features were subjected to standard cytogenetic techniques using giemsa trypsin (GTG-) banding then fluorescence in situ hybridization (FISH) using a specific whole-X chromosome painting probe, Quint-Essential Y-specific DNA probe (AMELY) for Yp11.2, alpha-satellite (DYZ3) probe and X/Y cocktail-alpha satellite probe (ONCOR) for confirmation of the initial diagnosis and comparison of the two techniques. Eight cases (36%) showed the same karyotype results by both techniques [5 cases: 45,X/46,XX, 2 cases: 45,X/46,X,i(Xq) and one case with a triple cell line 45,X/46,XX/47,XXX]. In the other 14 cases (64%) the FISH technique has identified a third cell line in 7 cases (32%), delineated the origin of the marker in 5 cases (23%) to be derivative X and clarified the deletion of the Yp11.2 region in 2 cases (9%) with the 45,X/46,XY karyotype. The application of FISH has highlighted the differences between the initial diagnosis based on the standard cytogenetic technique and the final diagnosis determined by the application of DNA probes specific for the X and Y chromosomes. FISH proved useful in detection of the low frequency cell lines which need analysis of a large number of metaphase spreads by GTG-banding, helped in identifying the nature and the origin of the unknown markers which has an important implication in the development of gonadal tumours and delineated the deletion of the Yp11.2 region in the 45,X/46,XY Turner patients. PMID:10738532

  5. Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.

    PubMed

    Wolff, D J

    2000-11-01

    Turner syndrome is a clinically defined phenotype that is characterized by partial or complete X chromosome monosomy. A host of cytogenetic aberrations and mosaicism have been associated with this syndrome. Some individuals, Turner syndrome variants, have cytogenetic findings consistent with Turner syndrome, but exhibit atypical clinical phenotypes. Recently, several molecular tests have been presented to allow for the refined clinical study of Turner syndrome and its variants. PMID:11216383

  6. DESCRIBING LYMPHEDEMA IN FEMALES WITH TURNER SYNDROME.

    PubMed

    Rothbauer, J; Driver, S; Callender, L

    2015-09-01

    Turner syndrome (TS) is a chromosomal condition affecting an estimated 1 in 2,500 girls where the second X chromosome is missing, or partially formed. This abnormality affects multiple body systems and can lead to short stature, cardiac, neural, and renal abnormalities. Due to the chronic, non-life threatening nature of lymphedema in comparison to other symptoms of TS, it is often ignored by girls and women with TS and their physicians. Consequently, little is known about how lymphedema affects girls and women with TS across the lifespan. Therefore, the objective of the study was to deliver an online survey for females with TS and caregivers in the US, UK, and Canada to provide a worldwide perspective on their current experience with lymphedema within the spectrum of TS. There were 219 participants who completed the survey, and we were able to identify incidence and characteristics of lymphedema across the lifespan. In addition, we found that females with 45,X karyotyping were more likely to report lymphedema symptoms. Lymphedema is not the most significant concern of females with TS, but education, physician evaluation, and assistance with referrals for treatment and management would improve the ease of managing lymphedema in girls and women with TS. PMID:26939161

  7. [Turner Syndrome: what's new in medical care?].

    PubMed

    Zenaty, D; Laurent, M; Carel, J C; Léger, J

    2011-12-01

    Turner syndrome is a rare genetic disorder, affecting approximately one in 2500 live-born female, due to total or partial absence of the X chromosome. Typical clinical features are short stature and premature ovarian failure and less constantly phenotypic particularities such as congenital malformations, acquired cardiovascular, otological (hearing impairment), autoimmune and metabolic pathologies. The phenotype is highly variable with slight or even normal phenotype. Several studies have shown that growth hormone treatment improves adult height. The possibility of pregnancies after oocyte donation highlights the high risk of these pregnancies requiring a careful follow-up, especially in terms of cardiovascular issues. Although the quality of life seems similar to the normal population, the presence of cardiovascular and otological diseases, and delayed feminisation are associated with an impaired quality of life. Early diagnosis and regular screening for potentials associated complications are essential in the medical follow-up of these patients. The recent publication of recommendations should lead to an optimization and harmonisation of the medical practices and follow-up from paediatric age to adulthood, a lowering morbidity and self-esteem improvement. The interest of ovarian cryopreservation at an early age in these patients is under investigation. PMID:22041596

  8. Physical fitness of schoolgirls with Turner syndrome.

    PubMed

    Milde, Katarzyna; Tomaszewski, Pawel; Stupnicki, Romuald

    2013-02-01

    The aim of the study was to assess physical fitness of girls with Turner syndrome (TS) and to determine the relative contributions of age, body height, and body mass to performance in fitness tests. Girls with TS aged 10-18 years (n = 184), and age- and stature-matched healthy controls (n = 280) were studied with the use of the EUROFIT test battery. Girls with TS were significantly inferior to the control group in maintaining balance, standing broad jump, sit-ups, shuttle run, and endurance shuttle run (p < .001). No significant differences were found for plate tapping, but girls with TS were superior to their healthy mates (p < .001) in handgrip, sit-and-reach, and bent-arm hang. Unlike controls, body height in girls with TS had significant effects on handgrip strength (positive) and on plate tapping speed (negative), other contributions being relatively similar in both groups. It thus seems that the somatic specificity of girls with TS explains most differences in motor fitness. The identified motor deficiencies of girls with TS call for undertaking steps toward attracting those girls to motor activities. PMID:23406704

  9. Epigenetic Dysfunction in Turner Syndrome Immune Cells.

    PubMed

    Thrasher, Bradly J; Hong, Lee Kyung; Whitmire, Jason K; Su, Maureen A

    2016-05-01

    Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also associated with T cell immune alterations and chronic otitis media, suggestive of a possible immune deficiency. Recently, ubiquitously transcribed tetratricopeptide repeat on the X chromosome (UTX), a histone H3 lysine 27 (H3K27) demethylase, has been identified as a downregulated gene in TS immune cells. Importantly, UTX is an X-linked gene that escapes X-chromosome inactivation and thus is haploinsufficient in TS. Mice with T cell-specific UTX deficiency have impaired clearance of chronic viral infection due to decreased frequencies of T follicular helper (Tfh) cells, which are critical for B cell antibody generation. In parallel, TS patients have decreased Tfh frequencies in peripheral blood. Together, these findings suggest that haploinsufficiency of the X-linked UTX gene in TS T cells underlies an immune deficit, which may manifest as increased predisposition to chronic otitis media. PMID:27039394

  10. Prenatal diagnsis of intracardiac hamartoma and Turner syndrome.

    PubMed

    Gedikbasi, Ali; Oztarhan, Kazim; Yararbas, Kanay; Arslan, Oguz; Yildirim, Dogukan; Oztek, Ibrahim; Ceylan, Yavuz

    2010-01-01

    Turner syndrome is associated with a higher frequency of heart defects detected prenatally when compared to postnatal reports. The most common heart defects detected prenatally are hypoplastic left heart syndrome and coarctation of the aorta. We report a case involving a fetus at 16 gestational weeks with a septated cystic hygroma located on the neck and head, an interventricular septal mass, a hypoplastic left ventricle due to aortic stenosis, mitral stenosis, and a hypoplastic aortic arch with a karyotype of mos 45, X, [47 cells]/47, XXX [3 cells]. The autopsy findings confirmed our prenatal diagnosis with a final diagnosis of Turner syndrome and congenital cardiac vascular malformation. PMID:20704479

  11. Nested polymerase chain reaction study of 53 cases with Turner`s syndrome: Is cytogenetically undetected Y mosaicism common?

    SciTech Connect

    Binder, G.; Koch, A.; Ranke, M.B.

    1995-12-01

    Turner`s syndrome patients with Y mosaicism face a high risk of developing gonadoblastoma. Cytogenetic analysis can fail to detect rare cells bearing a normal or structurally abnormal Y chromosome (low level Y mosaicism). We screened 53 individuals with Turner`s syndrome for presence of sex-determining region Y (SRY), the testis-specific protein, Y encoded, gene, and the Y centromeric DYZ3 repeat using nested polymerase chain reaction (PCR). Thirty girls (57%) had the 45,X karyotype, determined through standard analysis of blood lymphocytes. The remaining 23 girls (43%) were mosaics and/or had structural abnormalities in 1 X-chromosome. Genomic DNA from blood leukocytes was amplified using 2 rounds of PCR. This method was sensitive enough to detect 0.0001% male DNA on a female background. None of 53 Turner`s syndrome cases was positive for Y-specific loci after the first round of PCR. After the second round, 2 of 53 Turner`s syndrome cases were positive for SRY mapping to the distal short arm of chromosome Y. In 1 SRY-positive subject, the karyotype was 45,X, and in the other, it was 46,Xi(Xq). None of 53 Turner`s syndrome individuals, including the 2 SRY-positive subjects, were positive for the testis-specific protein, Y encoded, gene on the proximal short arm of chromosome Y or the centromeric DYZ3 repeat. These data exclude low level Y mosaicism in almost all Turner`s syndrome cases tested. 35 refs., 3 figs., 1 tab.

  12. Arousal Modulation in Females with Fragile X or Turner Syndrome

    ERIC Educational Resources Information Center

    Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf

    2008-01-01

    The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…

  13. A rare case of Turner's syndrome presenting with Mullerian agenesis.

    PubMed

    Vaddadi, Suresh; Murthy, Ramana S V; Rahul, C H; Kumar, Vinod L

    2013-10-01

    Turner's syndrome also called as Ullrich Turner's syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner's syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina. PMID:24672170

  14. Recurrent vocal fold paralysis and parsonage-turner syndrome.

    PubMed

    Pinto, Marcus Vinicius; Joffily, Lucia; Vincent, Maurice Borges

    2013-01-01

    Background. Parsonage-Turner syndrome, or neuralgic amyotrophy (NA), is an acute brachial plexus neuritis that typically presents with unilateral shoulder pain and amyotrophy but also can affect other peripheral nerves, including the recurrent laryngeal nerve. Idiopathic vocal fold paralysis (VFP) represents approximately 12% of the VFP cases and recurrence is extremely rare. Methods and Results. We report a man with isolated recurrent unilateral right VFP and a diagnosis of NA years before. Conclusions. We emphasize that shoulder pain and amyotrophy should be inquired in any patient suffering from inexplicable dysphonia, and Parsonage-Turner syndrome should be considered in the differential diagnosis of idiopathic VFP. PMID:24288639

  15. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    ERIC Educational Resources Information Center

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  16. Cognitive Ability and Everyday Functioning in Women with Turner Syndrome.

    ERIC Educational Resources Information Center

    Downey, Jennifer; And Others

    1991-01-01

    Comparison of 23 Turner syndrome (TUS) women with 23 women with constitutional short stature (CSS) found significant group differences for Performance and Full Scale IQ, largely due to TUS women's deficits in spatial and mathematical ability. TUS individuals had significantly lower educational and occupational attainment than CSS controls but did…

  17. The Psychoeducational Characteristics of Children with Turner Syndrome.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.

    1993-01-01

    This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

  18. Communication Problems in Turner Syndrome: A Sample Survey.

    ERIC Educational Resources Information Center

    Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

    1999-01-01

    A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

  19. Pregnancy rate and outcome in Swedish women with Turner syndrome.

    PubMed

    Bryman, Inger; Sylvén, Lisskulla; Berntorp, Kerstin; Innala, Eva; Bergström, Ingrid; Hanson, Charles; Oxholm, Marianne; Landin-Wilhelmsen, Kerstin

    2011-06-30

    Pregnancies occurred in 57 (12%) of 482 Swedish women with Turner syndrome with a liveborn rate of 54% in 124 pregnancies. Spontaneous pregnancies occurred in 40%, mainly in women with 45,X/46,XX mosaicism, and oocyte donation in 53% where miscarriages were less frequent, odds ratio = 0.43 (95% confidence interval 0.17-1.04). PMID:21256486

  20. [Asthma-COPD overlap syndrome].

    PubMed

    Odler, Balázs; Müller, Veronika

    2016-08-01

    Obstructive lung diseases represent a major health problem worldwide due to their high prevalence associated with elevated socioeconomic costs. Bronchial asthma and chronic obstructive pulmonary disease are chronic obstructive ventilatory disorders with airway inflammation, however they are separate nosological entities based on thedifferent development, diagnostic and therapeutic approaches, and prognostic features. However, these diseases may coexist and can be defined as the coexistence of increased variability of airflow in a patient with incompletely reversible airway obstruction. This phenotype is called asthma - chronic obstructive pulmonary disease overlap syndrome. The syndrome is a clinical and scientific challenge as the majority of these patients have been excluded from the clinical and pharmacological trials, thus well-defined clinical characteristics and therapeutic approaches are lacking. The aim of this review is to summarize the currently available literature focusing on pathophysiological and clinical features, and discuss possible therapeutic approaches of patients with asthma - chronic obstructive pulmonary disease overlap syndrome. Orv. Hetil., 2016, 157(33), 1304-1313. PMID:27523313

  1. Math Achievement, Numerical Processing, and Executive Functions in Girls with Turner Syndrome: Do Girls with Turner Syndrome Have Math Learning Disability?

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.; Hanich, Laurie B.

    2010-01-01

    Turner syndrome is a common genetic disorder associated with select deficits in executive functions, working memory and mathematics. In Study 1, we examined growth trajectories of skills in these areas, from grades 1 to 6, among girls with or without Turner syndrome. Rates of growth and performance levels at 6th grade, on an untimed math…

  2. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

    PubMed Central

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Cinaz, Peyami

    2015-01-01

    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients. PMID:26831551

  3. Parsonage-Turner syndrome in second-degree contact burns.

    PubMed

    Zhao, Jing-Chun; Xian, Chun-Jing; Yu, Jia-Ao

    2014-01-01

    Literature on the complications of burns is abundant. However, there is a paucity of literature on Parsonage-Turner syndrome as a complication of contact burns. The authors described the case of a 27-year-old Chinese man who sustained contact burns on the left upper limb and the left side of the chest wall, presenting sharp intense pain and swelling of the left shoulder deriving from the diagnosis of Parsonage-Turner syndrome. On the basis of clinical findings, the authors selected conservative treatment both for the burns and brachial plexus injury. Approximately 10 days postinjury the patient was able to move his upper limb in the same range as the contralateral uninjured limb. The sensory function recovered and the numbness of the upper limb gradually disappeared. This case shows that Parsonage-Turner syndrome can occur even in second-degree burns with a small total body surface area. Therefore, careful physical examination, early recognition, and prompt treatment are essential for recovery of the injured limb. PMID:24879399

  4. Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

    PubMed Central

    Kuznetzova, T; Baranov, A; Schwed, N; Ivaschenko, T; Malet, P; Giollant, M; Savitsky, G A; Baranov, V

    1995-01-01

    Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter group. The X chromosome origin of the marker chromosome was proved by FISH technique with biotin labelled pericentromeric X chromosome specific probe in four other patients. These results show that patients with a number of Turner's syndrome stigmata usually do not have a typical XO karyotype but have some structural chromosomal aberrations involving the X or Y chromosomes. Combined application of cytogenetic, molecular cytogenetic (FISH), and PCR techniques significantly improves the precision of marker chromosome identification and thus might be of practical importance for the proper management and treatment of affected patients. Peculiarities of pathological manifestations of different karyotypes bearing structural abnormalities of the X or Y chromosomes in patients with Turner's syndrome stigmata, as well as feasible genetic mechanisms of sex determination and differentiation abnormalities in these subjects, are briefly discussed. Images PMID:8825925

  5. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    PubMed Central

    Mishra, Vineet V.; Pritti, Kumari; Aggarwal, Rohina; Choudhary, Sumesh

    2015-01-01

    We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP). The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH. PMID:26751945

  6. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome.

    PubMed

    Mishra, Vineet V; Pritti, Kumari; Aggarwal, Rohina; Choudhary, Sumesh

    2015-01-01

    We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP). The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH. PMID:26751945

  7. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  8. Mathematical Learning Disability in Girls with Turner Syndrome: A Challenge to Defining MLD and Its Subtypes

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2009-01-01

    Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

  9. Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.

    This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

  10. Leiomyosarcoma of the Oropharynx and Neurogenic Tumors in a Young Patient With Turner's Syndrome

    PubMed Central

    Apice, Gaetano; Silvestro, Giustino; Losito, Simona; Botti, Gerardo; Ionna, Francesco; De Rosa, Vincenzo; Borghese, Annamaria; Ninfo, Vito

    2001-01-01

    Patient: A case of Turner's syndrome developing a leiomyosarcoma of the oropharynx and metachronous neurogenic tumors (mediastinal ‘ganglioneuroblastoma intermixed’, subcutaneous neurilemoma) is described. Discussion: To our knowledge, this case is the second reported leiomyosarcoma in a patient with Turner's syndrome. Also the site of involvement (palate and oropharynx) is particularly unusual for the already rare leiomyosarcomas in the young age. PMID:18521442

  11. The other side of Turner's: Noonan's syndrome.

    PubMed

    Agarwal, Pankaj; Philip, Rajeev; Gutch, Manish; Gupta, K K

    2013-09-01

    Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the phenotype becomes less pronounced with increasing age. PMID:24083159

  12. The other side of Turner's: Noonan's syndrome

    PubMed Central

    Agarwal, Pankaj; Philip, Rajeev; Gutch, Manish; Gupta, K. K.

    2013-01-01

    Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the phenotype becomes less pronounced with increasing age. PMID:24083159

  13. Pediatric glioblastoma multiforme in association with Turner's syndrome: a case report.

    PubMed

    Hanaei, Sara; Habibi, Zohreh; Nejat, Farideh; Sayarifard, Fatemeh; Vasei, Mohammad

    2015-01-01

    The Ullrich-Turner syndrome (complete or partial X-chromosome monosomy) has been found to be associated with an increased rate of some extragonadal neoplasms. Sporadic reports of the Turner syndrome with various brain tumors, including few cases of glioblastoma multiforme, have been found in the literature. However, published data are insufficient to establish a definite relationship between these tumors and the Turner syndrome. Herein, a rare case of primary pediatric glioblastoma multiforme in a 7-year-old girl with Turner's syndrome is reported, and various aspects regarding clinical and pathophysiological issues have been discussed. Although Turner's syndrome is not one of the congenital chromosomal abnormalities which demand routine CNS screening, neurological assessment may be of value in those with relevant clinical findings. PMID:25720952

  14. Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

    2006-01-01

    Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

  15. Bone Fragility in Turner Syndrome: Mechanisms and Prevention Strategies

    PubMed Central

    Faienza, Maria Felicia; Ventura, Annamaria; Colucci, Silvia; Cavallo, Luciano; Grano, Maria; Brunetti, Giacomina

    2016-01-01

    Bone fragility is recognized as one of the major comorbidities in Turner syndrome (TS). The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone therapy to treat short stature, the efficacy of this treatment on bone mineral density is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies. PMID:27199891

  16. Bone Fragility in Turner Syndrome: Mechanisms and Prevention Strategies.

    PubMed

    Faienza, Maria Felicia; Ventura, Annamaria; Colucci, Silvia; Cavallo, Luciano; Grano, Maria; Brunetti, Giacomina

    2016-01-01

    Bone fragility is recognized as one of the major comorbidities in Turner syndrome (TS). The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone therapy to treat short stature, the efficacy of this treatment on bone mineral density is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies. PMID:27199891

  17. [Bilateral diaphragmatic paralysis due to Parsonage-Turner syndrome].

    PubMed

    Tissier-Ducamp, D; Martinez, S; Alagha, K; Charpin, D; Chanez, P; Palot, A

    2015-09-01

    We report the case of a 49-years-old patient who presented to the accident and emergency department with sudden onset dyspnea associated with acute shoulder pain. He was breathless at rest with supine hypoxemia. He had an amyotrophic left shoulder with localized paresis of the shoulder. Both hemi-diaphragms were elevated on chest X-rays. Pulmonary function tests showed a restrictive pattern and both phrenic nerve conduction velocities were decreased. At night, alveolar hypoventilation was evidenced by elevated mean capnography (PtcCO2: 57mmHg). Neuralgic amyotrophy, Parsonage-Turner syndrome was the final diagnosis. This syndrome is a brachial plexus neuritis with a predilection for the suprascapular and axillary nerves. Phrenic nerve involvement is rare but where present can be the most prominent clinical feature as in our case report. PMID:25534571

  18. Pulsatile growth hormone release in Turner's syndrome and short normal children.

    PubMed

    Ghizzoni, L; Lamborghini, A; Ziveri, M; Volta, C; Panza, C; Balestrazzi, P; Bernasconi, S

    1990-09-01

    To determine whether the quantitative and qualitative aspects of GH secretion in girls with Turner's syndrome are similar to those of short-normal children we studied the 24-h GH secretion of 10 patients with Turner's syndrome and 9 short-normal children with comparable auxological features. GH profiles, obtained by 30-min sampling, were analysed by the Pulsar programme. The pulsatile GH release over the 24 h in Turner's syndrome was similar to that in normal children. However, when the GH release over the 12 day and night hours were separately analysed, only normal children showed a night-time increase in the sum of peak amplitudes. Moreover, patients with Turner's syndrome had significantly decreased number and frequency of peaks in the night-time compared with short children. In short-normal children but not in Turner's syndrome, height velocity was related to the 24-h integrated concentration of GH, area under the curve over zero-line and over baseline, sum of peak areas, and amplitudes. Night-time GH area over zero-line and over baseline, mean peak amplitude, height area, sum of peak area and amplitudes were positively correlated with height velocity in short children, whereas in Turner's syndrome height velocity was related to daytime parameters only. In conclusion, girls with Turner's syndrome have a discrete pattern of pulsatile GH release. However, the relation of GH secretion to growth in these patients, is uncertain. PMID:2239077

  19. Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.

    PubMed

    Landin-Wilhelmsen, K; Bryman, I; Wilhelmsen, L

    2001-09-01

    Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women. PMID:11549644

  20. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report

    PubMed Central

    2014-01-01

    Introduction Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic–clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. Case presentation A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic–clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. Conclusions There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies. PMID:24694237

  1. Eye tracking and fear recognition deficits in Turner syndrome.

    PubMed

    Mazzola, Francesca; Seigal, Anna; MacAskill, Andrew; Corden, Ben; Lawrence, Kate; Skuse, David H

    2006-01-01

    Turner syndrome (TS) is a chromosomal disorder of X-monosomy in females. A minority have impaired social responsiveness, poor discrimination of facial emotions (especially fear), and abnormal amygdala-cortical connectivity. We tested the hypothesis that abnormal gaze fixation, especially with the eye region of faces, would be associated with these features, in a similar pattern to that seen in subjects with autism. Furthermore, since these features tend to be more striking in TS women whose X chromosome is maternal in origin, we also predicted that there may be a difference within the Turner's group according to parental origin of the single X. Adults with 45,X karyotype and age and IQ matched 46,XX women were recruited and tested. Facial fear recognition was significantly worse in 45,X females than controls, but there were no group differences according to parental origin of their single X chromosome. Subsequently, we tested 45,X and 46,XX women using a remote eye-tracking device, as they viewed photographs of emotional human faces. Striking differences in scanpaths were found between the TS and controls, and within the TS group, but not according to parental origin of the X chromosome. These findings provide novel evidence for abnormal face processing in some women with TS, and indicate a potential neural mechanism underlying the difficulties in some key aspects of social cognition. PMID:18633792

  2. Transitions in endocrinology: treatment of Turner's syndrome during transition.

    PubMed

    Gawlik, Aneta; Malecka-Tendera, Ewa

    2014-02-01

    Transition in health care for young patients with Turner's syndrome (TS) should be perceived as a staged but uninterrupted process starting in adolescence and moving into adulthood. As a condition associated with high risk of short stature, cardiovascular diseases, ovarian failure, hearing loss and hypothyroidism, TS requires the attention of a multidisciplinary team. In this review paper, we systematically searched the relevant literature from the last decade to discuss the array of problems faced by TS patients and to outline their optimal management during the time of transfer to adult service. The literature search identified 233 potentially relevant articles of which 114 were analysed. The analysis confirmed that all medical problems present during childhood should also be followed in adult life. Additionally, screening for hypertension, diabetes mellitus, dyslipidaemia, and osteoporosis is needed. After discharge from the paediatric clinic, there is still a long way to go. PMID:24225028

  3. Association of Turner Syndrome and Growth Hormone Deficiency: A Review.

    PubMed

    Marques, Jorge Sales; Aires, Sónia

    2015-09-01

    Turner syndrome (TS) is an important cause of short stature in girls. Patients with TS most often do not have growth hormone deficiency (GHD). Testing GH secretion is not indicated despite the presence of short stature. In the last 20 years only three cases were reported with this association in Pubmed. We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). Because her growth velocity was low (-3 SD), we evaluated the GH response with stimulating tests and the results were under the normal range. These findings were compatible with GHD. It is important to check for GHD in patients with TS whenever the growth velocity is low for age and sex. PMID:26540761

  4. Evaluating the biomechanics of the pediatric foot in Turner syndrome: a case report.

    PubMed

    Morrison, Stewart C; Izod, Alexander; Mahaffey, Ryan

    2012-01-01

    Turner syndrome is a genetic disorder that can present clinically with multiple concurrent comorbidities. This case report describes a 12-year-old girl with Turner syndrome who was referred for podiatric medical assessment and explores the application of optoelectronic stereophotogrammetry in the biomechanical assessment of the foot and lower limb. A four-segment kinematic foot model using 14-mm reflective markers was applied to the foot and lower limb of the patient to track motion at the tibia, rearfoot, forefoot, and hallux. Kinematic results presented in this case study illustrate evidence of excessive foot pronation throughout the stance phase of gait. Whether excessive pronation is a general characteristic of foot function in Turner syndrome remains to be confirmed, but the findings presented suggest that a comprehensive evaluation of foot biomechanics in patients with Turner syndrome may be warranted. PMID:22659771

  5. [A report of 2 cases of Turner's syndrome with a ring X chromosome].

    PubMed

    Migliori, M V; Bartolotta, E; Maurizi, M; Bonazzi, P; Cardinale, G; Manunza, V

    1991-09-01

    The authors report two cases of Turner syndrome with clinical evidence of only primitive hypogonadism and short stature. Karyotype analysis showed X ring mosaicism which is present only in 5% of cases of Turner syndrome. The authors agree with the hypothesis suggesting no relationship between break points on the X chromosome and phenotypical aspect. An earlier diagnosis is auspicious so that, using correct therapy, final height should be improved. PMID:1758399

  6. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

    PubMed

    Massingham, Lauren J; Johnson, Kirby L; Scholl, Thomas M; Slonim, Donna K; Wick, Heather C; Bianchi, Diana W

    2014-09-01

    Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play a role in Turner syndrome pathophysiology. Cell-free RNA from amniotic fluid of five mid-trimester Turner syndrome fetuses and five euploid female fetuses matched for gestational age was extracted, amplified, and hybridized onto Affymetrix(®) U133 Plus 2.0 arrays. Significantly differentially regulated genes were identified using paired t tests. Biological interpretation was performed using Ingenuity Pathway Analysis and BioGPS gene expression atlas. There were 470 statistically significantly differentially expressed genes identified. They were widely distributed across the genome. XIST was significantly down-regulated (p < 0.0001); SHOX was not differentially expressed. One of the most highly represented organ systems was the hematologic/immune system, distinguishing the Turner syndrome transcriptome from other aneuploidies we previously studied. Manual curation of the differentially expressed gene list identified genes of possible pathologic significance, including NFATC3, IGFBP5, and LDLR. Transcriptomic differences in the amniotic fluid of Turner syndrome fetuses are due to genome-wide dysregulation. The hematologic/immune system differences may play a role in early-onset autoimmune dysfunction. Other genes identified with possible pathologic significance are associated with cardiac and skeletal systems, which are known to be affected in females with Turner syndrome. The discovery-driven approach described here may be useful in elucidating novel mechanisms of disease in Turner syndrome. PMID:24850140

  7. Prosthodontic treatment and medical considerations for a patient with Turner syndrome: a clinical report.

    PubMed

    Nguyen, Caroline T; Hofstede, Theresa M

    2012-10-01

    This clinical report describes a multidisciplinary approach in the rehabilitation of a 23-year-old Caucasian woman affected with Turner's syndrome and subsequently diagnosed with T4 Giant cell reparative granuloma of the right maxillary sinus. The surgical treatment included a maxillectomy and infratemporal fossa dissection followed by a free fibula palatal reconstruction, fibula bone graft of the orbital floor, dental implant placement, and prosthodontic rehabilitation. Prosthodontic planning and treatment considerations in an adult patient with Turner Syndrome are discussed. PMID:22672559

  8. Type 1 diabetes mellitus in a 3 1/2 year-old girl with Turner's syndrome.

    PubMed

    Gonc, E Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun

    2002-01-01

    Turner's syndrome is associated with autoimmune disorders. Autoimmune endocrinopathy in Turner's syndrome seems to be limited to autoimmune thyroiditis. A small number of patients with Turner's syndrome has also been associated with celiac disease, inflammatory bowel disease and juvenile rheumatoid arthritis. Type 1 diabetes mellitus in Turner's syndrome has been rarely reported. We present here the youngest patient with Turner's syndrome who developed type 1 diabetes mellitus. At the age of 3.5 years she was hospitalized with diabetic ketoacidosis. Anti-islet cell and anti-insulin antibodies were positive and C-peptide level was low. When she was investigated for recurrent urinary tract infections, horseshoe kidney was detected by ultrasonography. Karyotype analysis revealed 45,XO. She has been followed for 2 years with an insulin dose of 0.9 U/kg per day. The prevalence of type 1 diabetes mellitus associated with Turner's syndrome is still unknown. PMID:12387520

  9. Parsonage-Turner syndrome following post-exposure prophylaxis

    PubMed Central

    2014-01-01

    Background The ‘Parsonage-Turner syndrome’ (PTS) is a rare but distinct disorder with an abrupt onset of shoulder pain, followed by weakness and atrophy of the upper extremity musculature, and a slow recovery requiring months to years. To our best knowledge, this is the first case describing symptoms and signs of PTS following the administration of a post-exposure prophylaxis (PEP) regimen against possible human immunodeficiency virus (HIV) and hepatitis B virus (HBV) infection. Case presentation A 25-year-old Caucasian man presented with pain and unilateral scapular winging following PEP against possible HIV and HBV infection. Although atrophy and weakness were observed for the right supraspinatus muscle, a full range of motion was achievable. Neurological examination, plain radiography of the right shoulder and electromyography showed no additional abnormalities. The patient was diagnosed with post-vaccination PTS and treated non-operatively. During the following 15 months the scapular winging receded and full muscle strength was regained. Conclusion Parsonage-Turner syndrome is a rare clinical diagnosis. The precise pathophysiological mechanism of PTS remains unclear, but it seems to involve an interaction between genetic predisposition, mechanical vulnerability and an autoimmune trigger. An immunological event, such as – in this case – a vaccination as part of PEP treatment, can trigger the onset of PTS. The clinical presentation is distinctive with acute severe pain followed by patchy paresis, atrophy and sensory symptoms that persist for months to years. No currently available tests can provide a definite confirmation or exclusion of PTS. Routine blood examination, electromyography (EMG), and computed tomography (CT) or magnetic resonance imaging (MRI) serve mainly to exclude other disorders. The recovery can be quite lengthy, non-operative treatment is the accepted practice. Supplementary administration of oral prednisolone could shorten the

  10. Mathematics Learning Disabilities in Girls with Fragile X or Turner Syndrome during Late Elementary School

    ERIC Educational Resources Information Center

    Murphy, Melissa M.; Mazzocco, Michele M. M.

    2008-01-01

    The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner…

  11. Hearing disorders in Turner's syndrome: a survey from Iran.

    PubMed

    Bakhshaee, Mehdi; Vakili, Rahim; Nourizadeh, Navid; Rajati, Mohsen; Ahrari, Asma; Movahed, Rahman

    2015-12-01

    Turner syndrome (TS) is one of the most frequently encountered sex-linked chromosomal abnormalities, occurring in one per 2,000 female births. These patients present with short stature and failure to begin puberty. In this syndrome, there are multiple organ abnormalities, including auditory disorders. TS patients were referred to the ENT clinic by a pediatric endocrinologist. A questionnaire was filled out and the patients went through a complete otologic examination. They were then referred to the audiology clinic to undergo audiologic test battery plus high-frequency pure tone audiometry. From a total of 48 ears examined, 11 (22.9 %) had a normal audiometry. Mid-frequency sensorineural hearing loss (SNHL), high-frequency SNHL, combined and mixed hearing loss were diagnosed in 6 (12/5 %), 20 (41/7 %), 6 (12/5 %) and 1 (2/1 %) ear, respectively. Tympanogram results showed normal compliance (A, As, Ad) in the majority of cases. B and C patterns were found in a few cases. Speech discrimination score was normal in all patients whereas speech reception threshold was normal in 92 % of the ears. Audiometry abnormality especially SNHL is common in TS patients, with the high-frequency pattern being the most frequent. PMID:25534285

  12. Postsurgical Parsonage-Turner syndrome: a challenging diagnosis.

    PubMed

    Verhasselt, Skrallan; Schelfaut, Sebastiaan; Bataillie, Filiep; Moke, Lieven

    2013-02-01

    Parsonage-Turner syndrome (PTS) is a distinct clinical syndrome, characterized by acute and severe (mostly) unilateral shoulder pain, followed by paresis and atrophy of the shoulder girdle, while the pain decreases. Most authors consider it as an immune-mediated disorder. PTS is notoriously unrecognised and is usually diagnosed with delay. A PTS may also occur following a surgical procedure. Postsurgical PTS is an under-recognised and challenging clinical entity, as illustrated in the case reported here of a 59-year-old man, 4 weeks after anterior discectomy and fusion C5C7. In such cases, the differential diagnosis must be made with a complication of surgery, such as postoperative C5 palsy due for instance to a migrated bone graft. Arguments for PTS are: a certain delay between surgery and symptoms, intolerable pain followed by weakness and improvement of pain complaints, divergent distribution of weakness, sensory deficit and pain, which may be confirmed by electrodiagnosis. Early recognition of postsurgical PTS may avoid unnecessary investigations or surgical exploration. It allows to treat the patient properly, leading to greater satisfaction of both surgeon and patient; pain management, physical therapy and reassurance are the cornerstones. PMID:23547510

  13. Turner syndrome: don't forget the vulva

    PubMed Central

    Haidopoulos, Dimitrios; Bakolas, George

    2016-01-01

    Summary Turner syndrome (TS) has been linked to a number of autoimmune conditions, including lichen sclerosus (LS), at an estimated prevalence of 17%. LS is a known precursor to vulvar cancer. We present a case of vulvar cancer in a 44-year-old woman, who had previously complained of pruritus in the area, a known symptom of LS. Histology confirmed a squamous cell carcinoma with underlying LS. Vulvar assessment for the presence of LS should be undertaken regularly as part of the routine assessments proposed for adult TS women. If LS is identified, then the patient should be warned of the increased risk of vulvar cancer progression and should be monitored closely for signs of the condition. Learning points Patients with TS are at increased risk of developing LS.LS is a known precursor to vulvar cancer.TS women with LS may be at risk of developing vulvar cancer and should be offered annual vulvar screening and also be aware of signs and symptoms of early vulvar cancer. PMID:27252865

  14. Turner syndrome with spinal hemorrhage due to vascular malformation

    PubMed Central

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Kim, Duk Hee; Kim, Ho-Seong

    2015-01-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS. PMID:26817012

  15. Reduced Functional Connectivity during Working Memory in Turner Syndrome

    PubMed Central

    Dunkin, Bria; Hong, David S.; Reiss, Allan L.

    2011-01-01

    Turner syndrome (TS) is a genetic disorder affecting females, resulting from the complete or partial absence of an X chromosome. The cognitive profile of TS shows relative strengths in the verbal domain and weaknesses in the procedural domain, including working memory. Neuroimaging studies have identified differences in the morphology of the parietal lobes, and white matter pathways linking frontal and parietal regions, as well as abnormal activation in dorsal frontal and parietal regions. Taken together these findings suggest that abnormal functional connectivity between frontal and parietal regions may be related to working memory impairments in TS, a hypothesis we tested in the present study. We scanned TS and typically developing participants with functional magnetic resonance imaging while they performed visuospatial and phonological working memory tasks. We generated a seed region in parietal cortex based on structural differences in TS and found that functional connectivity with dorsal frontal regions was reduced during working memory in TS. Finally, we found that connectivity was correlated with task performance in TS. These findings suggest that structural brain abnormalities in TS affect not only regional activity but also the functional interactions between regions and that this has important consequences for behavior. PMID:21441396

  16. Genetic analysis of mosaicism in 53 women with Turner syndrome.

    PubMed

    Hanson, L; Bryman, I; Barrenäs, M L; Janson, P O; Wahlström, J; Albertsson-Wikland, K; Hanson, C

    2001-01-01

    Mosaicism involving the sex chromosomes is a common finding in women with Turner syndrome (TS). It is especially important to detect Y-chromosomal material, since this is a risk factor for the development of gonadoblastoma. Recent studies have also indicated that the frequency of 45,X cells may be used to predict prognosis. As part of an ongoing multi-disciplinary study, we have examined the extent of Y-chromosomal material and sex chromosomal mosaicism and its tissue specificity in 53 women with TS. The results of lymphocyte karyotyping were compared with the use of interphase X/Y fluorescence in situ hybridisation (FISH) analysis of lymphocytes and buccal mucosal cells. As could be expected, an extended FISH analysis detected more Y-chromosomal material than karyotyping (in 15% vs. 11% of the women, respectively) and also detected more X-chromosomal mosaicism among the TS women (in 70% vs. 45 % of the women, respectively). In half of the women, tissue-specific differences between lymphocytes and buccal mucosal cells were found. Based on these results, we suggest the use of X/Y interphase FISH as a complement to karyotyping in order to obtain a more complete knowledge of the chromosome constitution of each individual with TS. PMID:11732852

  17. [Genetic analysis of Turner syndrome: 89 cases in Tunisia].

    PubMed

    Kammoun, I; Chaabouni, M; Trabelsi, M; Ouertani, I; Kraoua, L; Chelly, I; M'rad, R; Ben Jemaa, L; Maâzoul, F; Chaabouni, H

    2008-11-01

    Turner's syndrome (TS) affects about 1/2500 female infants born alive. The syndrome results from total or partial absence of one of the two X chromosomes normally present in females. We report the results of a retrospective analysis of 89 cases of TS observed during a six-year period (2000-2005). The patients' age ranged from two days to 51 years at the time of this analysis. Most patients were adults (48%). The aim of this study is to ascertain the principal clinical features leading to a request for a karyotype, searching for a possible relationship between chromosomal anomalies and clinical expression of TS. Pediatric patients were referred for statural retardation or dysmorphic features, while reproduction anomalies were the main indication for karyotyping in patients aged over 20 years. Mosaicism was prevalent (47%), whereas the homogeneous karyotype 45,X was found in only 32% of the patients; structural anomalies were found in 21%. Regarding the advanced age of our patients, we established a relationship between chromosome anomalies and the clinical expression of TS, based on an analysis of stature and reproduction disorders. Short stature and primary amenorrhea were correlated with total deletion of one chromosome X or imbalanced gene dosage due to structural X anomalies. Whereas cases of infertility, recurrent miscarriages and secondary amenorrhea were associated with a mosaic karyotype pattern (45,X/46,XX or 45,X/46,XX/47,XXX ...), with a slight mosaicism in most cases. Thus, chromosome investigations should be performed in cases of reproduction failure even for women with normal stature. PMID:18541220

  18. Behavioral Assessment of Social Anxiety in Females with Turner or Fragile X Syndrome.

    ERIC Educational Resources Information Center

    Lesniak-Karpiak, Katarzyna; Mazzocco, Michele M. M.; Ross, Judith L.

    2003-01-01

    This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…

  19. Deletions of Yq11 associated with short stature and the Turner syndrome. Tentative mapping of a region associated with specific Turner stigmata to proximal interval 5.

    SciTech Connect

    McElreavey, K.; Barbaux, S.; Vilain, E.

    1994-09-01

    Turner syndrome is a complex human phenotype, commonly associated with a 45,X karyotype. Mapping the Turner phenotype is difficult since hidden mosaicisms, partial monosomy and complex rearrangements are present in many affected individuals. In addition, attempts to map the genes involved to the X chromosome have failed to yield a consistent localisation. An alternative approach to map and identify Turner genes is to study XY individuals, with sex chromosome abnormalities, who present with or without characteristic Turner stigmata. We report the analysis of 4 individuals with terminal deletions of Yq. The individuals were azoospermic males without phenotypic abnormalities (2 cases) and azoospermic males presenting with a specific subset of Turner stigmata (2 cases). Breakpoints in each of the cytogenetically detectable Yq deletions were mapped by Southern analysis and Y chromosome-specific sequence tagged sites (STS). Correlation between the patients phenotypes and the extent of their deletion indicate a critical region associated with specific Turner stigmata (cubitus valgus, shield chest, short fourth metacarpals) and growth retardation at Yq at proximal interval 5. These data provide evidence that the somatic features of the Turner syndrome are most likely caused by haploinsufficiency of genes at several loci.

  20. Atypical Functional Brain Activation during a Multiple Object Tracking Task in Girls with Turner Syndrome: Neurocorrelates of Reduced Spatiotemporal Resolution

    ERIC Educational Resources Information Center

    Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.

    2010-01-01

    Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a…

  1. Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

    PubMed Central

    Jung, Jae Yeop; Yang, Sohyoung; Jeong, Eun-Hwan; Lee, Ho-Chang; Lee, Yong-Moon; Han, Heon-Seok

    2015-01-01

    Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal. PMID:26817010

  2. An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome.

    PubMed

    Chintanaboina, JayaKrishna; Shah, Pragnesh R; Riley, Thomas R

    2015-01-01

    Although abnormal liver function tests occur in 50-80% of cases with Turner syndrome, there are no previous reports of overt hepatic disease or hepatic granulomas associated with Turner's syndrome. We report three cases of Turner syndrome associated with hepatic granulomas with a wide range of liver dysfunction. Of the three patients, first patient underwent liver transplantation; second patient remained stable on immunosuppressants; and third patient died from complications of decompensated liver cirrhosis as she declined liver transplantation due to multiple comorbidities. One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. She had remarkably abnormal lipid panel that responded to ezetimibe and by stopping the β-sitosterol supplement. PMID:25705228

  3. Portal vein thrombosis in a patient with Turner's syndrome: a case report.

    PubMed

    Shedeed, Soad A

    2012-03-01

    This work aimed at reporting a case of Turner's syndrome with portal vein thrombosis and elevated levels of factor VIII and von Willebrand factor. A 14-year-old Libyan girl was admitted for evaluation of infantilism and pallor; meanwhile, she was found to be of short stature, with webbing of the neck. Chromosomal studies showed monosomy pattern Turner's syndrome (45XO). Abdominal ultrasound displayed a hugely enlarged spleen. Computed tomography (CT) imaging of the abdomen revealed portal vein thrombosis and dilated venous collaterals in porta hepatis. Thrombophilia screening demonstrated elevated levels of factor VIII (207 IU dl(-1)) and von Willebrand factor (450 IU dl(-1)). It was concluded that this was a case report on the unusual finding of portal vein thrombosis in a patient with Turner's syndrome in whom high levels of factor VIII and von Willebrand factor were found. Detailed molecular epidemiological study is recommended to clarify this finding and its underlying factors. PMID:22560822

  4. Otolaryngologic markers for the early diagnosis of Turner syndrome

    PubMed Central

    Makishima, Tomoko; King, Kelly; Brewer, Carmen C; Zalewski, Christopher K; Butman, John; Bakalov, Vladimir K; Bondy, Carolyn; Griffith, Andrew J

    2009-01-01

    Objective To identify and characterize otolaryngologic markers for the early diagnosis of Turner Syndrome (TS). Study Design Prospective cohort survey. Methods Setting Clinical Center of the National Institutes of Health (NIH). Patients Ninety-one females, 7 - 61 years old (average = 28.7 y), enrolled in a multidisciplinary study of karyotype-phenotype correlations in TS. Main Outcome Measures Age at diagnosis, X chromosome karyotype, history of chronic or recurrent otitis media (OM), sensorineural hearing loss (SNHL), palate dysmorphism, pinna deformity, pterygium colli, low posterior hairline, low-set ears, and micrognathia. Results Sixty-nine (76%) patients had a history of chronic or recurrent OM, 62 (68%) had a dysmorphic palate, 57 (63%) had SNHL, and 90 (99%) had one or more of these findings. 83 (91%; average age at diagnosis = 9.4 y) had one or more external craniofacial signs: pinna abnormalities, pterygium colli, low-set ears, micrognathia or a low posterior hairline. Eight patients (average age at diagnosis = 13.2 y) had no external craniofacial signs, although seven (88%) of these eight patients had a history of chronic or recurrent OM, dysmorphic palate or SNHL. The age at diagnosis was not significantly different between groups with or without external craniofacial signs (P = 0.126). Conclusions Patients with mild or incompletely penetrant TS phenotypes often present with otitis media, hearing loss, or both before the diagnosis of TS is established. Palatal dysmorphism, including ogival morphology, is another otolaryngologic marker for TS. Prompt recognition of these manifestations of TS could hasten its diagnosis and appropriate medical care. PMID:19732968

  5. Clinical care of adult Turner syndrome--new aspects.

    PubMed

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E; Cleemann, Line; Gravholt, Claus H

    2012-05-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mortality is increased, especially due to the risk of dissection of the aorta and other cardiovascular diseases, as well as the risk of type 2 diabetes, hypertension, osteoporosis, thyroid disease and other diseases. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. The transition period from paediatric to adult care seems to be especially vulnerable and the proper framework for transition has not yet been established. Likewise, no framework is in place for continuous follow-up during adult years in many countries. Today, most treatment recommendations are based on expert opinion and are unfortunately not evidence based, although more areas, such as growth hormone and oxandrolone treatment for increasing height, are becoming well founded. Osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrine diseases and conditions are seen more frequently in TS. Prevention, intervention and proper treatment is only just being recognized. Hypertension is frequent and can be a forerunner of cardiovascular disease. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied and a framework for care should be in place, since most morbidity potentially is amenable to intervention. In summary, TS is a condition associated with a number of diseases and conditions which need the attention of a multi-disciplinary team during

  6. Turner syndrome isochromosome karyotype correlates with decreased dental crown width.

    PubMed

    Rizell, S; Barrenäs, M-L; Andlin-Sobocki, A; Stecksén-Blicks, C; Kjellberg, H

    2012-04-01

    The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, and the number of intact X chromosomal p-arms were investigated. In comparisons between karyotypes, statistically significant differences were found for isochromosome karyotype maxillary second premolars, canines, laterals, mandibular first premolars, and canines, indicating that this karyotype was the most divergent as shown by the most reduced crown width. When each karyotype group were compared versus controls, all teeth in the isochromosome group were significantly smaller than controls (P < 0.01-0.001). The 45,X/46,XX karyotype expressed fewer and smaller differences from controls, while 45,X individuals seemed to display an intermediate tooth width compared with 45,X/46,XX and isochromosomes. No significant difference in crown width was found comparing the groups with one or two intact X chromosomal p-arms. Both primary and permanent teeth proved to have a significantly smaller crown width in the entire group of TS females compared to healthy females. We conclude that the isochromosome group deviates most from other karyotypes and controls, exhibiting the smallest dental crown width, while individuals with 45,X/46,XX mosaicism seemed to have a less affected crown width. An influence of the number of intact p-arms on crown width could not be demonstrated in this study. PMID:21303812

  7. Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

    PubMed

    Oktay, Kutluk; Bedoschi, Giuliano; Berkowitz, Karen; Bronson, Richard; Kashani, Banafsheh; McGovern, Peter; Pal, Lubna; Quinn, Gwendolyn; Rubin, Karen

    2016-10-01

    In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. PMID:26485320

  8. Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.

    PubMed

    Walter, E; Mazaika, P K; Reiss, A L

    2009-11-24

    Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine "experiments of nature" in which the deletion or alteration of one gene or a contiguous set of genes can be linked to aberrant brain structure or function. Converging evidence across multiple imaging modalities has now begun to highlight the abnormal neural circuitry characterizing many individual neurogenetic syndromes. Furthermore, there has been renewed interest in combining analyses across neurogenetic conditions in order to search for common organizing principles in development. In this review, we highlight converging evidence across syndromes from multiple neuroimaging modalities, with a particular emphasis on functional imaging. In addition, we discuss the commonalities and differences pertaining to selective deficits in visuospatial processing that occur across four neurogenetic syndromes. We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations. PMID:19376197

  9. Ocular Motor Indicators of Executive Dysfunction in Fragile X and Turner Syndromes

    ERIC Educational Resources Information Center

    Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.

    2007-01-01

    Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner…

  10. Hypertrophic scars in a patient with Turner's syndrome treated with recombinant growth hormone.

    PubMed

    Kędzia, Andrzej; Pawlaczyk, Mariola; Petriczko, Elżbieta

    2014-05-01

    Turner's syndrome is a common genetic disorder of girls and women, for which characteristic clinical symptoms encompass short stature, gonadal dysgenesis, systemic defects, multiple dysmorphic features and skin changes, including an increased number of melanocytic nevi, hypertrophic scars and keloids. The affected girls are treated with recombinant human growth hormone to improve the height. We present a case of a 15-year-old girl with Turner's syndrome, hypertrophic scars and a keloid. At the age of 12 years and 8 months, the girl started recombinant human growth hormone treatment. During the therapy, a surgical excision of 4 out of 42 benign melanocytic nevi was performed. After 2 months the hypertrophic scars as well as a keloid were noted at sites of excision. Parents of girls with Turner's syndrome undertake various attempts to improve not only the height and maturity of their daughters, but also their appearance by commonly performed surgical corrections of the webbed neck and pigmented nevi. The presented case suggests an increased risk of scars hypertrophy and keloid formations after surgical intervention in Turner's syndrome patients who are treated with recombinant human growth hormone at the same time. Due to that it should be advised to postpone all planned surgical procedures until the therapy has been completed. PMID:25097479

  11. Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

    ERIC Educational Resources Information Center

    Rovet, Joanne

    2004-01-01

    Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…

  12. Social Functioning among Girls with Fragile X or Turner Syndrome and Their Sisters.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.

    1998-01-01

    Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)

  13. Comparison of Visual-Spatial Performance Strategy Training in Children with Turner Syndrome and Learning Disabilities.

    ERIC Educational Resources Information Center

    Williams, Janet K.; And Others

    1992-01-01

    Thirteen females with Turner syndrome, 13 females with nonverbal learning disabilities, and 14 males with nonverbal learning disabilities, ages 7-14, were taught via a cognitive behavioral modification approach to verbally mediate a spatial matching task. All three groups showed significant task improvement after the training, with no significant…

  14. Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

    PubMed

    Tejada, M I; Mornet, E; Tizzano, E; Molina, M; Baiget, M; Boue, A

    1994-01-01

    A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. This report shows that molecular studies in conjunction with cytogenetic analysis can help in the clinical diagnosis of a rare case and can show the uniqueness of a case such as the one here described. PMID:8151646

  15. Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

    PubMed Central

    Tejada, M I; Mornet, E; Tizzano, E; Molina, M; Baiget, M; Boue, A

    1994-01-01

    A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. This report shows that molecular studies in conjunction with cytogenetic analysis can help in the clinical diagnosis of a rare case and can show the uniqueness of a case such as the one here described. Images PMID:8151646

  16. An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report.

    PubMed

    Yu, Tse-Ya; Lin, Huan-Sheng; Chen, Pei-Lung; Huang, Tien-Shang

    2015-01-01

    Isodicentric X chromosomes in general have phenotypes characteristic of the resultant X deletions. Gonadotropin levels in Turner's syndrome (TS) girls are high, but have a normal biphasic pattern. Here, we report a 21-year-old lady with primary amenorrhea. Clinical examination revealed a short neck but no other typical stigmata of Turner's syndrome. The levels of gonadotropin were not raised to post-menopausal levels. A chromosome study showed a 45,X/46,X,idic(X)(q22) karyotype. She was diagnosed as having Turner's syndrome. PMID:25618587

  17. [Turner's syndrome 45,X/46Xdel(X)(q21): a case report].

    PubMed

    Aiassa, Delia; Bosch, Beatriz; Castellano, Mónica

    2013-01-01

    Turner's syndrome was described by Otto Ullrich (1930) and Henry Turner (1938). An estimated 1 from 2,000 to 3,000 female babies and 1% of the conceptions of female embryos and fetuses have this condition, and 95 to 99% of them result in miscarriage during the first trimester. The case presented concerns a 15 y/o girl who consulted due to primary amenorrhea. The karyotype was 45,X[6]/46Xdel(X)(q21)[14]. Her mother had experienced premature ovarian failure and her karyotype was: 46Xdel(X)(q21)[3]/46,XX[35]. PMID:23381712

  18. [Turner's syndrome--case report of a female patient with chromosome mosaicism].

    PubMed

    Roglić, A; Kastelan, D; Kozić-Rukavina, B; Korsić, M

    1998-01-01

    A 45-year old woman with the typical Turner's phenotype (short stature, short and broad neck, shield chest and low hairline) and signs of ovarian failure started at the age of 37 with menopause at the age of 44, is presented. The cytogenetic analysis showed the presence of three different cell lines with 45,X, 46,XX and 47,XXX karyotypes. It is a rare type of mosaicism, combining Turner's and triple-X syndrome. Interestingly, the became pregnant and gave birth to a healthy child. Second pregnancy resulted in a miscarriage in the first trimester. PMID:9919878

  19. Genotype/phenotype correlation in women with nonmosaic X chromosome deletions and Turner syndrome

    SciTech Connect

    Zinn, A.R.

    1994-09-01

    Turner syndrome is a complex human developmental disorder associated with the absence of the second sex chromosome (monosomy X). Cardinal features of the Turner phenotype include high intrauterine lethality, growth retardation, gonadal failure, and the variable presence of specific somatic abnormalities such as webbed neck, lymphedema, and skeletal abnormalities. Recent observations support the hypothesis that the phenotype associated with monosomy X results from haploid dosage of genes common the X and Y chromosomes that escape X-inactivation ({open_quotes}Turner genes{close_quotes}). Apart from a locus causing short stature that maps to the pseudoautosomal region on the distal short arm, the location of X-linked Turner genes is not known. Karyotype/phenotype correlations in women with partial X deletions have been inconsistent. However, previous studies have focused on sporadic sex chromosome aberrations and may have been confounded by occult mosaicism. In addition, mapping of deletions was limited by the resolution of cytogenetic techniques. I am reexamining genotype/phenotype correlations in partial X monosomy, focusing on a subset of cases in which mosaicism is highly unlikely (e.g., unbalanced X-autosome translocations, familial X deletions), and using molecular techniques to map deletions. I have collected eight cases of nonmosaic X deletions in women with varied manifestations of Turner syndrome. Cytogenetic data suggests that genes responsible for Turner anatomic abnormalities may lie within a critical region of the very proximal portion of the short arm (Xp11). Molecular characterization of the deletions is in progress. Methods include (1) fluorescence in situ hybridization of metaphase spreads from patient-derived cell lines, using cosmid probes that map to known locations on Xp, and (2) sequence tagged site (STS) content mapping of somatic cell hybrids retaining the deleted X chromosomes derived from these cell lines.

  20. Serum LH and FSH Responses to Synthetic LH-RH in Normal Infants, Children and Patients With Turner's Syndrome

    ERIC Educational Resources Information Center

    Suwa, Seizo; And Others

    1974-01-01

    Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)

  1. [Autoimmune hepatitis and overlap syndrome: therapy].

    PubMed

    Löhr, H F

    2002-08-21

    Autoimmune Hepatitis (AIH), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) represent acute and chronic inflammatory liver diseases in which immune reactions against host antigens are found to be the major pathological mechanism. Only for AIH there is evidence of an autoimmune etiology and humoral and cellular immune reactions are found directed against various liver cell antigens. By diverse autoantibodies several subgroups of autoimmune hepatitis can be distinguished. A very important disease promoting factor seems to be the genetically determined background for autoimmunity characterized by the HLA haplotype A1, B8 and DR3, respectively DR4. Although the histopathology of AIH shows no pathognomonic features distinguishing this type of hepatitis from virus induced chronic hepatitis there are some distinct characteristic morphological lesions. If untreated the prognosis of AIH is unfavourable but the benefit from immunosuppressive therapy with prednisolone and azathioprin is well established. In the last years there was increasing evidence for an overlap syndrome between AIH and PBC and rarely AIH and PSC. These patients are characterized by PBC characteristic bileduct lesions and oftenly antimitochondrial antibodies (AMA). They also show AIH typical inflammatory hepatic lesions in the periportal areas and portal tracts and oftenly the typical genetical background, the HLA haplotype A1, B8, DR3 or DR4. Most of these patients respond probably to a combination therapy containing prednisolon, azathioprine and ursodesoxycholic acid that leads to the reduction of the inflammatory activity. PMID:12233265

  2. Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

    PubMed

    Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

    2016-07-01

    Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; P<0.05). Elevated systolic BP was positively associated with obesity (56% versus 31%; P<0.05). Because the prevalence of obesity in the studied population was similar to Center for Disease Control published data for obesity in all girls and the prevalence of increased BP is approximately twice that of the general population, the Turner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. PMID:27217413

  3. Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.

    PubMed

    Lee, K F; Chan, Angel O K; Fok, Juliana M C; Mak, Maria W H; Yu, K C; Lee, K M; Shek, C C

    2013-06-01

    Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material has been excluded. PMID:23732434

  4. Mechanisms of enhanced osteoclastogenesis in girls and young women with Turner's Syndrome.

    PubMed

    Faienza, Maria Felicia; Brunetti, Giacomina; Ventura, Annamaria; Piacente, Laura; Messina, Maria Francesca; De Luca, Filippo; Ciccarelli, Maria; Oranger, Angela; Mori, Giorgio; Natale, Maria Pia; Gigante, Margherita; Ranieri, Elena; Gesualdo, Loreto; Colucci, Silvia; Cavallo, Luciano; Grano, Maria

    2015-12-01

    Subjects with hypergonadotropic hypogonadism due to Turner's syndrome show low cortical mineral density, osteoporosis and risk of fractures. It is not clear if this bone fragility derives from chromosomal abnormalities or is the result of inadequate bone formation due to estrogen deficiency. The aim of this study was to investigate the cellular mechanisms underlying bone fragility in subjects with Turner's syndrome before induction of puberty and after hormonal replacement therapy (HRT). For this purpose, we have evaluated the osteoclastogenic potential of non-fractioned and T-cell depleted cultures of peripheral blood mononuclear cells (PBMCs) belonging to girls with Turner's syndrome who had not been treated with HRT yet, girls and young women who were on HRT and age-matched controls. Untreated subjects showed high FSH serum levels, whereas the other subjects displayed normal FSH serum levels. T-cell immunophenotype was analyzed through flow cytometry. Biochemical and DXA analyses were performed. Spontaneous osteoclastogenesis in non-fractioned and T-cell depleted cultures of PBMC belonging to girls with high FSH levels was more evident than in cultures of subjects with normal FSH levels. In the former, osteoclastogenesis was sustained by monocytes expressing high levels of c-fms, TNF-α and RANK, and T-cells producing high RANKL and TNF-α; in the latter it was supported by T-cells expressing high RANKL levels. CD4(+)CD25(high) T-cells were reduced in all subjects, whereas CD3(+)/CD16(+)/CD56(+) NKT-cells were increased in those with high FSH levels. High RANKL and CTX levels were detected in the sera. Bone impairment was already detectable by DXA in subjects aged under 10, although it became more evident with aging. In conclusion, our results demonstrated that bone fragility in subjects with Turner's syndrome is associated to enhanced osteoclastogenesis. This process seems to be due to high FSH serum levels before HRT, whereas it is caused by high RANKL during

  5. AB155. Clinical presentation and its relationship with chromosomal abnormalities in Turner syndrome

    PubMed Central

    Thao, Bui Phuong; Dung, Vu Chi; Khanh, Nguyen Ngoc; Ngoc, Can Thi Bich; Hoan, Nguyen Thi; Phuong, Nguyen Thi

    2015-01-01

    Background Turner syndrome is a relatively common chromosomal disorder. The disease affects only females, causing hypogonadism and short stature. Early treatment can improve short stature and hypogonadism. The study aims to describe chromosomal abnormalities, clinical characteristics and its relationship with chromosomal abnormalities in patients with Turner syndrome. Methods A total of 213 patients with Turner syndrome diagnosed in National Hospital of Pediatrics, Hanoi. A cross section study was used. Results Mean age on diagnosis was 12.2±4.9 years. Monosomy 45,XO occupied 54,31%; 45,X/46,XX was seen in 14.66%; 27.59% had structural disorders of chromosome X. Short stature was found in all patients aged more than 15 years. Severity of short stature and percentage of patients with short stature went up with age. There was no difference in term of height between karyotype groups. In group aged ≥12 years, 95.2% of cases had hypogonadism. Other symptoms frequently seen were nail hypoplasia (77.4%), cubitus valgus (74.7%), broad chest (69.2%)/abnormalities in face and neck were epicanthic fold (55.6%), low posterior line (51.3%), excessive skin in the back of the neck/webbed neck (42.5%). In a group aged <1 year, lymphoedema of hands/feet, epicanthic fold, broad chest, cubitus valgus were found in 100%. Majority of symptoms, congenital defects of heart/kidney were seen more frequently in 45,X group. Conclusions Lymphoedema of hands/feet in infants, low growth velocity, delayed puberty, abnormalities in face and neck, and other symptoms should be checked to early diagnose and treat Turner syndrome. Patients with 45,X had more severe presentation compared to patients with 45,X/46,XX and structural abnormalities of X chromosome.

  6. Sex chromosome analysis in Turner Syndrome by a pentaplex PCR assay.

    PubMed

    Pelotti, S; Bini, C; Ceccardi, S; Ferri, G; Abbondanza, A; Greggio, N A; Ponzano, E; Caenazzo, L

    2003-01-01

    In this study, we describe a pentaplex PCR to determine the parental origin of the X chromosome and the presence of mosaicism, via amplification of four polymorphic markers located along the X chromosome (DXS10011, DXS6807, HUMARA, DXS101) and the X-Y amelogenin marker, in 41 families having a daughter with Turner Syndrome. Our results confirmed the cytogenetic findings and we found that the parental origin of the single X chromosome to be maternal in 84% of cases. PMID:14642001

  7. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.

    PubMed

    Atton, Giles; Gordon, Kristiana; Brice, Glen; Keeley, Vaughan; Riches, Katie; Ostergaard, Pia; Mortimer, Peter; Mansour, Sahar

    2015-12-01

    Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function. PMID:25804399

  8. A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

    PubMed

    Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime

    2016-01-01

    Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype. PMID:26744914

  9. Evidence for epigenetic alterations in Turner syndrome opens up feasibility of new pharmaceutical interventions.

    PubMed

    Rajpathak, Shriram N; Deobagkar, Deepti D

    2014-01-01

    DNA methylation is an important regulatory component which influences phenotypes by modulating gene expression. Changes in DNA methylation may lead to altered phenotypes and ability of an organism to respond to stress leading to subsequent manifestation of life style diseases, cancer, etc. The human X chromosome represents a classical model for epigenetic processes governing differential regulation of homologous chromosomes. X monosomy (45, XO) leads to Turner's syndrome in human with mild to severe phenotypes. Using a novel cDNA based high throughput approach of assessing genome wide methylation; we have examined the methylation landscape in human fibroblasts in 45, XO and 46, XX individuals. We report here that as expected methylation of X linked genes is different in these two situations. It was observed that methylation of several autosomal genes is also affected in this X monosomy state. Genes involved in bone remodeling, glucose sensitivity and ovarian function appear to be altered in addition to genes involved in epigenetic regulatory processes. This opens up interesting possibility of misregulation of DNA methylation in the X monosomy state resulting in altered gene expression and altered phenotypes. This may be one of the reasons for the variance, differential severity and penetrance in case of Turner's syndrome. We propose that a systematic analysis of the molecular genetic mechanisms governing this epigenetic regulation will open up new therapeutic interventions which will certainly help in reducing severity of the disease and help in better management of X monosomy (Turner's syndrome). PMID:23888970

  10. Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.

    PubMed

    Zaki, M S; Kamel, A A; El-Ruby, M

    2005-01-01

    The co-occurrence of two numerical chromosomal abnormalities in same individual (double aneuploidy) is relatively rare and its clinical presentations are variable depending on the predominating aneuploidy or a combination effect of both. Furthermore, double aneuploidy involving both autosomal and sex chromosomes is seldom described. In this study, we present three patients with double aneuploidy involving chromosome 21 and sex chromosomes. They all had the classical non disjunction trisomy 21; that was associated with monosomy X in two of them and double X in the other. Clinically, they had most of the phenotypic features of Down syndrome as well as variable features characteristic of Turner or Klinefelter syndrome. Cytogenetic studies and fluorescence in situ hybridization (FISH) analysis were carried out for all patients and their parents. The first patient was a male, mosaic with 2 cell lines (45,X/47,XY,+21) by regular banding techniques and had an affected sib with Down syndrome (47,XY,+21). The second was a female, mosaic (46,X,+21/47,XX,+21) where monosomy X was detected only by FISH in 15 percentages of cells, nevertheless, stigmata of Turner syndrome was more obvious in this patient. The third patient had non mosaic double trisomy; Down-Klinefelter (48,XXY,+21) presented with Down syndrome phenotype. Parental karyotypes and FISH studies for these patients were normal with no evidence of mosaicism. In this report, we review the variable clinical presentations among the few reported cases with the same aneuploidy in relation to ours. Also, the proposed mechanisms of double aneuploidy and the occurrence of non-disjunction in more than one family member are discussed. This study emphasizes the importance of molecular cytogenetics studies for more than one tissue in cases with atypical features of characteristic chromosomal aberration syndromes. To our knowledge, this is the first report of double aneuploidy, Down-Turner and Down-Klinefelter syndromes in

  11. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: A national cohort study.

    PubMed

    Ji, Jianguang; Zöller, Bengt; Sundquist, Jan; Sundquist, Kristina

    2016-08-15

    The risk of solid and hematological malignancy in patients with Turner syndrome, characterized by X chromosome monosomy in women, and Klinefelter syndrome, characterized with two and more X chromosomes in men, is not well established, but such evidence may have etiological implications on cancer development. We identified a total of 1,409 women with Turner syndrome and 1,085 men with Klinefelter syndrome from the Swedish Hospital Discharge and Outpatient Register. These individuals were further linked to the Swedish Cancer Register to examine the standardized incidence ratios (SIRs) of cancer using the general population without Turner and Klinefelter syndromes as reference. The overall risk of cancer was 1.34 for women with Turner syndrome; it was increased only for solid tumors. For a specific type of tumor, the risk of melanoma and central nervous system tumor was significantly increased. For persons with Klinefelter syndrome, the risk of solid tumors was decreased (SIR = 0.66), whereas the risk of hematological malignancy was increased (SIR = 2.72). Non-Hodgkin lymphoma and leukemia showed an increased SIR of 3.02 and 3.62, respectively. Our study supported the hypothesis that X chromosome plays an important role in the etiology of solid tumors. The underlying mechanisms for the increased incidence of non-Hodgkin lymphoma and leukemia in persons with Klinefelter syndrome need to be investigated further. PMID:27061708

  12. Surgical Correction of a Webbed-Neck Deformity in Turner'S Syndrome.

    PubMed

    Zieliński, Tomasz; Lorenc-Podgórska, Katarzyna; Antoszewski, Bogusław

    2015-03-01

    Turner's syndrome occurs in approximately 1 out of every 2,000 to 2,500 live-born girls. This genetically determined pathology is characterised by multiple congenital anomalies. A typical form of this syndrome is associated with a lack of one of the sex chromosomes (karyotype 45, X). From the point of view of plastic surgery, one of the most important elements of the therapy is correction of the webbed neck deformity. The aim of the study was to present the possibilities of surgical treatment of a webbed neck of patients with Turner's syndrome and the evaluation of treatment results. In the years 2000-2012, six children with Turner's syndrome were treated because of the webbed neck deformity. The age of patients ranged from 9 to 17 years. In the case of all patients, the aim was to distribute the neck skin folds by using Z-plasty in conjunction with a shift to the back of glabrous skin flaps mobilised from the anterolateral surface of the neck. In the case of four operated patients, the folds were completely removed and a correct symmetrical outline of the neck was obtained. One patient was found to have unilateral moderate webbed neck recurrence after about 2 years of treatment. In one case, the correction was insufficient. The performed surgical procedures enabled correction of low hairline only in the lateral parts of the neck. The lower line of the scalp in the central part of the neck has remained unchanged. The lateral approach with a shift of glabrous skin flap to the back, which we performed, allows for effective reduction of the webbed neck, excision of bands of the connective tissue and correction of the low hairline on the side of the neck. Z-plasty enables an adequate extension of scars and improves the contour of the neck. PMID:26146109

  13. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

    PubMed Central

    2012-01-01

    Background Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. Case presentation Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype. The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells). However, the percentage of cells with monosomy X was low and variable in tissues. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. Conclusions The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence. PMID:22676896

  14. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome.

    PubMed

    Araújo, A; Ramos, E S

    2008-05-01

    The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome. PMID:18545811

  15. Melatonin secretion in Turner's syndrome: lack of effect of oestrogen administration.

    PubMed

    Schober, E; Waldhauser, F; Frisch, H; Schuster, E; Bieglmayer, C

    1989-10-01

    Melatonin secretion was investigated in 13 girls with Turner's syndrome before and after long-term oestrogen administration. Oestrogen treatment resulted in an increase in the serum levels of the hormone and a decrease in blood progesterone concentration. No change, however, was observed in the melatonin secretion pattern (in terms of peak values, time of peak level and total melatonin secretion) after oestrogen therapy. A distinct circadian rhythm in serum melatonin was evident in all subjects with peak occurring around 0200 h and concentration similar to those of normal subjects. PMID:2516784

  16. Major depressive disorder in an adolescent with Turner syndrome: a case report.

    PubMed

    Mao, Shujiong; Sun, Liying; Li, Rong; Zhao, Zhengyan; Yang, Rongwang

    2016-05-01

    Turner syndrome (TS) is a chromosomal abnormality, of which the presence and impact of coexisting psychiatric morbidity has received little attention. The present report describes an adolescent with mosaic karyotype TS who had major depressive disorder with the predisposing cause of psychosocial burden, and relieved with the treatment of sertraline and complete remission with combined use of estradiol valerate. The report suggests us to pay more attention on the mood disorders in children with TS, especially in adolescents. For treatment aspect, medications for improving the puberty development and short stature should be added to in addition to antidepressants if they had mood disorders. PMID:26698832

  17. [Asthma-COPD overlap syndrome among patients with stable COPD].

    PubMed

    Nguyen, M-S; Nguyen Dang, D; Schleich, F; Manise, M; Corhay, J-L; Louis, R

    2015-01-01

    The purpose of this research was to describe the frequency and characteristics of the overlap syndrome among stable COPD patients (stage 2 to 4 according to GOLD). Material and method: We studied 46 patients with stable COPD recruited from the outpatient clinic of the CHU of Liege from May 2013 to April 2014. Definition of the overlap syndrome was based on the coexistence of post-bronchodilation FEV1/FVC < 70% and, either, an asthmatic history before the age of 40, or, at least, two functional and immune-inflammatory asthmatic traits : 1) significant FEV1 reversibility to inhaled bronchodilator (FEVI change >/= 200 ml and >/= 12% after bronchodilation), 2) eosinophilic inflammation : sputum eosinophils ≥ 3%,blood eosinophils ≥ 400/μl, or FENO ≥ 45 ppb, 3) clinical history of airway allergy, or total serum IgE ≥ 113 KU/l, or RAST ≥ 0,35 KU/l against major aeroallergens. 37% patients had the COPD-asthma overlap syndrome and this group had a higher CAT score reflecting more severe symptoms (24,6 ± 8,1 vs 19,4 ± 8, p < 0,05) despite similar level of airway obstruction. The transfer coefficient DLCO/VA was preserved in the overlap group (97 ± 24%), but altered in the pure COPD group (80 ± 20%), p < 0,05. Approximately one third of COPD patients present with the overlap syndrome and they are more symptomatic without any evidence of more severe airway obstruction. PMID:25902605

  18. A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome

    PubMed Central

    Babu, Thirunavukkarasu Arun; Chandrasekaran, Venkatesh; Balachandran, Sathish

    2012-01-01

    A 14-month-old boy with overlapping features of Townes-Brocks syndrome (TBS) and single median maxillary incisor syndrome (SMMCIS) is being reported with brief review of the above syndromes and possible differential diagnosis. PMID:23716951

  19. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.

    PubMed

    Tanaka, Toshiaki; Igarashi, Yutaka; Ozono, Keiichi; Ohyama, Kenji; Ogawa, Masamichi; Osada, Hisao; Onigata, Kazumichi; Kanzaki, Susumu; Kohno, Hitoshi; Seino, Yoshiki; Takahashi, Hiroaki; Tajima, Toshihiro; Tachibana, Katsuhiko; Tanaka, Hiroyuki; Nishi, Yoshikazu; Hasegawa, Tomonobu; Fujita, Keinosuke; Yorifuji, Tohru; Horikawa, Reiko; Yokoya, Susumu

    2015-10-01

    The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty. PMID:26568657

  20. Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome

    PubMed Central

    Kohno, Hitoshi; Igarashi, Yutaka; Ozono, Keiichi; Ohyama, Kenji; Ogawa, Masamichi; Osada, Hisao; Onigata, Kazumichi; Kanzaki, Susumu; Seino, Yoshiki; Takahashi, Hiroaki; Tajima, Toshihiro; Tachibana, Katsuhiko; Tanaka, Hiroyuki; Nishi, Yoshikazu; Hasegawa, Tomonobu; Fujieda, Kenji; Fujita, Keinosuke; Horikawa, Reiko; Yokoya, Susumu; Yorifuji, Toru; Tanaka, Toshiaki

    2012-01-01

    Background: Patients with Turner syndrome (TS) are prone to having metabolic abnormalities, such as obesity, dyslipidemia, hypertension, hyperinsulinemia and type 2 diabetes mellitus, resulting in increased risks of developing atherosclerotic diseases. Objective: To determine the effect of growth hormone (GH) therapy on serum cholesterol levels in prepubertal girls with TS enrolled in the Turner syndrome Research Collaboration (TRC) in Japan. Patients and methods: Eighty-one girls with TS were enrolled in the TRC, and their total cholesterol (TC) levels before GH therapy were compared with reported levels of healthy school-aged Japanese girls. TC levels after 1, 2 and 3 yr of GH treatment were available for 28 of the 81 patients with TS. GH was administered by daily subcutaneous injections, 6 or 7 times/wk, with a weekly dose of 0.35 mg/kg body weight. Results: Baseline TC levels revealed an age-related increase in TS that was in contrast to healthy girls showing unchanged levels. During GH therapy, TC decreased significantly after 1 yr of GH treatment and remained low thereafter. Conclusions: Girls with untreated TS showed an age-related increase in TC that was a striking contrast to healthy girls, who showed unchanged levels. GH therapy in girls with TS brought about a favorable change in TC that indicates the beneficial impact of GH on atherogenic risk. PMID:23926408

  1. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

    PubMed Central

    Tanaka, Toshiaki; Igarashi, Yutaka; Ozono, Keiichi; Ohyama, Kenji; Ogawa, Masamichi; Osada, Hisao; Onigata, Kazumichi; Kanzaki, Susumu; Kohno, Hitoshi; Seino, Yoshiki; Takahashi, Hiroaki; Tajima, Toshihiro; Tachibana, Katsuhiko; Tanaka, Hiroyuki; Nishi, Yoshikazu; Hasegawa, Tomonobu; Fujita, Keinosuke; Yorifuji, Tohru; Horikawa, Reiko; Yokoya, Susumu

    2015-01-01

    Abstract. The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty. PMID:26568657

  2. Turner syndrome presented with tall stature due to overdosage of the SHOX gene

    PubMed Central

    Seo, Go Hun; Kang, Eungu; Cho, Ja Hyang; Lee, Beom Hee; Choi, Jin-Ho; Kim, Gu-Hwan; Seo, Eul-Ju

    2015-01-01

    Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2. PMID:26191517

  3. Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.

    PubMed

    Shahriari, Mahdi; Bazrafshan, Asghar; Moghadam, Mohamad; Karimi, Mehran

    2016-04-01

    A 6-month-old girl was referred by an ophthalmologist because of postoperative bleeding. She was scheduled for operation because of persistent hyperplastic primary vitreous. Workups were done and prolonged partial thromboplastin time with normal platelet count, normal bleeding time, and prothrombin time were detected. There was negative family history of bleeding tendency in both maternal and paternal family, so at the first step, Factor XI assay was requested which was normal. Then, von Willebrand factor and factor VIII were assayed which was 127% and less than 1%, respectively. Severe factor VIII deficiency was not suspected in a girl unless in siblings of a hemophilic patient who gets married with her carrier cousin. Chromosomal study and genetic testing were requested and mosaic Turner syndrome (45 XO) with ring X (p22, 2q13) along with inversion 22 (hemizygote) was detected. Abdominal and pelvic sonography showed absence of both ovaries with presence of infantile uterus. Maternal genetic study was in favor of carrier of hemophilia (heterozygote inversion 22). To the best of our knowledge, this is the first case of association of Turner syndrome with severe hemophilia A and persistent hyperplastic primary vitreous. PMID:26484646

  4. Visual integration difficulties in a 9-year-old girl with Turner syndrome: parallel verbal disabilities?

    PubMed

    Hepworth, S L; Rovet, J F

    2000-12-01

    Turner syndrome (TS) is a genetic disorder in females that arises from the loss of X chromosome material. Affected individuals demonstrate a characteristic neuropsychological profile of strengths in verbal processing and weaknesses in visuospatial processing, consistent with the Nonverbal Learning Disabilities syndrome. Previous research has described a wide range of visuospatial deficits in TS; however, their verbal abilities are less extensively studied. The present paper describes the processing difficulties of a 9-year-old girl with TS who demonstrated problems in integrating details of a complex visual display and using organizational terms to describe visual scenes or events. Her specific cognitive disabilities were thought to underlie some of the social and behavioral problems she was currently experiencing. Her pattern of results is consonant with the neuropsychological pattern that others have attributed to right hemisphere dysfunction and/or white matter abnormality. PMID:11992190

  5. Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

    PubMed Central

    Pivnick, E K; Furman, W L; Velagaleti, G V; Jenkins, J J; Chase, N A; Ribeiro, R C

    1998-01-01

    The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations. Images PMID:9598730

  6. White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging.

    PubMed

    Villalon-Reina, Julio; Jahanshad, Neda; Beaton, Elliott; Toga, Arthur W; Thompson, Paul M; Simon, Tony J

    2013-11-01

    Children with chromosome 22q11.2 deletion syndrome (22q11.2DS), Fragile X syndrome (FXS), or Turner syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders. PMID:23602925

  7. Turner syndrome

    MedlinePlus

    ... may be diagnosed before birth if a chromosome analysis is done during prenatal testing. The doctor will ... Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia, Pa: Saunders Elsevier; ...

  8. Turner Syndrome

    MedlinePlus

    ... with questions about grants, contracts & research areas Training, Education & Career Development Support for Training at Universities & Other Institutions Extramural training, fellowships & career development opportunities Training at ...

  9. Pregnancy outcome after oocyte donation in patients with Turner's syndrome: Clinical experience and management.

    PubMed

    Deligeoroglou, Efthimios; Stergioti, Evgenia; Dimopoulos, Konstantinos D; Karountzos, Vassileios; Prapas, Yannis

    2016-05-01

    Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome. Our objective is to report our experience in Greece with patients suffering from TS and trying to conceive; therefore, we present four patients with TS, who underwent In vitro fertilization (ICSI) with donor oocytes in order to get pregnant. Three out of four patients managed to conceive and bring pregnancy to completion. It was shown that patients diagnosed in childhood or adolescence with TS have the possibility to undergo hormone replacement therapy (HRT) and thus, secondary sexual characteristics as well as uterus of almost normal size can develop. Assisted reproduction techniques (ART), predominantly with donated oocytes, could give these patients the possibility to have children. PMID:26757887

  10. A girl with increased writing and painting activities associated with Turner's syndrome and autistic spectrum disorder.

    PubMed

    Ahouee, Shohreh Mohseni; Shooshtari, Mitra Hakim; Bidaki, Reza

    2015-01-01

    This report describes the findings on the evaluation of a 9-year-old girl with disabling and pronounced increased writing and painting activities associated with Turner's syndrome and autistic spectrum disorder. She spent most of the time doing these activities which affected not only her academic performance, but also social relationships. A comprehensive treatment plan consists of both biological and psychological aspects, is the main point of this case. Low dose of risperidone (0.5 mg/day) was started to decrease the patient's stereotypic behaviors. Sertraline (12.5 mg/day) was prescribed for her phobia. She was also referred to an occupational therapist in order to improve her social skills. PMID:26015917

  11. Transumbilical laparoendoscopic single-site gonadectomy for Turner's syndrome with Y-chromosome mosaicism.

    PubMed

    Mizuno, Kentaro; Kojima, Yoshiyuki; Nishio, Hidenori; Tozawa, Keiichi; Mizuno, Haruo; Kohri, Kenjiro; Hayashi, Yutaro

    2012-08-01

    Laparoendoscopic single-site surgery (LESS), a minimally invasive procedure, is gaining widespread acknowledgment in pediatric urology. We report the case of a 7-year-old girl with Turner's syndrome with 45,XO/46,XY mosaicism, for whom bilateral prophylactic gonadectomy using LESS was performed. Histopathological findings revealed bilateral streak gonads. The surgical and cosmetic outcome was excellent. Diagnostic and therapeutic laparoscopy is essential for accurate clinical management of patients with disorders of sex development. Although this is only a single case report, it supports the theory that LESS is an exceedingly practical and superior technique for such children, since it provides excellent magnification, as well as allowing normal psychological development owing to the concealed scar. Further studies and long-term follow-up are required to evaluate the benefits and limitations of applying LESS in pediatrics. PMID:22417680

  12. Periodontal manifestations of patients with Turner's syndrome: Report of 3 cases.

    PubMed

    Kasagani, Suresh Kumar; Jampani, Narendra Dev; Nutalapati, Rajasekhar; Mutthineni, Ramesh Babu; Ramisetti, Arpita

    2012-07-01

    Complete or partial absence of the second sex chromosome, with or without a mosaic karyotype, is detected in approximately 1 per 2,500 live-born females. Such a cytogenetic finding coupled with clinical features, such as short stature and ovarian failure, supports the diagnosis of Turner's syndrome (TS). It is typically characterized by the combination of physical features and cytogenetics in females. The presenting clinical features can vary widely among affected individuals. Consequently, whereas short stature and gonadal dysgenesis are almost universal in TS, many other organ systems are affected to varying degrees and at different stages of life. The periodontal status of three females diagnosed with TS has been reported here. PMID:23162346

  13. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences.

    PubMed

    Canto, Patricia; Kofman-Alfaro, Susana; Jiménez, Ana Luisa; Söderlund, Daniela; Barrón, Consuelo; Reyes, Edgardo; Méndez, Juan Pablo; Zenteno, Juan Carlos

    2004-04-01

    Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy. Studies in TS patients with different karyotypes have demonstrated the presence of Y-chromosome-derived sequences (4-61%). Early detection of Y-chromosome sequences in TS is of great importance because of the high risk of gonadal tumor development. We investigated the presence of Y-chromosome sequences in TS patients with a 45,X karyotype. One hundred seven unrelated 45,X Mexican TS patients recruited between 1992 and 2003 were included. Y-chromosome-derived sequences were found by polymerase chain reaction in 10 (9.3%) patients. Six subjects underwent gonadectomy and in one of them a gonadoblastoma was found; another developed a gonadoblastoma with dysgerminoma. Because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given. PMID:15041227

  14. Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome*

    PubMed Central

    Carvalho, Sandrina; Sanches, Madalena; Alves, Rosário; Selores, Manuela

    2015-01-01

    Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-yearold woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries. PMID:26131874

  15. Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome.

    PubMed

    Carvalho, Sandrina; Sanches, Madalena; Alves, Rosário; Selores, Manuela

    2015-01-01

    Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-year old woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900 mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries. PMID:26131874

  16. How do you monitor the patient with Turner's syndrome in adulthood?

    PubMed

    Conway, Gerard S; Band, Margaret; Doyle, Jacqueline; Davies, Melanie C

    2010-12-01

    Within endocrinology, the long-term management of Turner syndrome (TS) in adults is fast becoming a specialist subject in its own right. The complications of TS can affect every system in the body, and the main reason why it falls to endocrinologists to coordinate health care is that many features are clearly within the endocrine remit: hypothyroidism, diabetes, hypertension, osteoporosis, hypogonadism. Endocrinologists as general physicians can often cover surveillance of problems in other areas such as congenital heart disease, inflammatory bowel disease and deafness, calling upon specialist input only if the need arises. In this way, a simple 'one stop shop' can offer a well-woman service for women with TS in a cost-effective manner. Such a service requires a multidisciplinary approach. PMID:20718775

  17. Spontaneous procreation in Turner syndrome: report of two pregnancies in the same patient.

    PubMed

    Alves, Cresio; Silva, Sheila F

    2012-04-01

    Spontaneous procreation in Turner syndrome (TS) is a rare condition, and repeated gestation is even rarer. We report two spontaneous and successful pregnancies (at the age of 25 and 28 y) in a patient with TS (karyotype: 45,X/47,XXX, in 30 metaphases). Births were by caesarean section due to fetal-pelvic disproportion. Both children, a boy and a girl, were born at full term, with normal physical exam and karyotype. Despite the elevated pregnancy risks associated with TS co-morbidities, this report presents two successful spontaneous pregnancies with normal children in a patient with TS diagnosis after her deliveries. Gynecologists and obstetricians should be aware of this possibility when evaluating women with unusual short stature or dysmorphic features in order to implement a more cautious prenatal care in those being diagnosed with TS. PMID:22182369

  18. Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and inflammatory bowel disease.

    PubMed

    Sokol, Lubomir; Stueben, Eugen T; Jaikishen, Jay P; Lamarche, Maximo B

    2002-07-01

    We report a unique case of Turner syndrome associated with acquired von Willebrand disease (AvWD), primary biliary cirrhosis (PBC), and inflammatory bowel disease (IBD). During 7 years of close follow-up, the patient presented with multiple major episodes of upper and lower gastrointestinal bleeding caused by different pathogenic mechanisms, such as IBD, AvWD, gastric varices, and thrombocytopenia. AvWD mimicking familial vWD type III on laboratory testing was most probably triggered by autoimmune mechanism associated with PBC. Therapy of PBC with ursodeoxycholic acid (UDCA) resulted in significant decrease of liver enzymes followed by normalization of vWF and FVIII levels. Portosystemic shunt placement with ligation of gastric varices improved hypersplenism and severe thrombocytopenia and led to clinical stability for more than 24 months. The clinicopathological features of these disorders and of the recurrent bleeding episodes are discussed in the text along with a review of the literature. PMID:12116986

  19. PARSONAGE-TURNER SYNDROME: CASE REPORT OF A HIV-SEROPOSITIVE PATIENT

    PubMed Central

    Oliveira, Saulo Gomes de; Pombo, Eduardo Hosken; Batista, Priscila Rossi de; Cardoso, Igor Machado; Rezende, Rodrigo

    2015-01-01

    Parsonage-Turner Syndrome is a rare disease that affects the musculature of the scapular girdle, leading to muscle atrophy and large motor deficit. The etiology is uncertain, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic investigations, we perform laboratory tests, radiographs and MRI on the shoulders and cervical spine, with emphasis on electroneuromyography to help in making a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients. PMID:27022580

  20. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

    PubMed

    Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

    2015-04-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. PMID:25711203

  1. Phenotype of asthma-chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    2015-01-01

    Many patients with asthma or chronic obstructive pulmonary disease (COPD) have overlapping characteristics of both diseases. By spirometric definition, patients with both fixed airflow obstruction (AO) and bronchodilator reversibility or fixed AO and bronchial hyperresponsiveness can be considered to have asthma-COPD overlap syndrome (ACOS). However, patients regarded to have ACOS by spirometric criteria alone are heterogeneous and can be classified by phenotype. Eosinophilic inflammation, a history of allergic disease, and smoke exposure are important components in the classification of ACOS. Each phenotype has a different underlying pathophysiology, set of characteristics, and prognosis. Medical treatment for ACOS should be tailored according to phenotype. A narrower definition of ACOS that includes both spirometric and clinical criteria is needed. PMID:26161009

  2. Phenotype of asthma-chronic obstructive pulmonary disease overlap syndrome.

    PubMed

    Rhee, Chin Kook

    2015-07-01

    Many patients with asthma or chronic obstructive pulmonary disease (COPD) have overlapping characteristics of both diseases. By spirometric definition, patients with both fixed airflow obstruction (AO) and bronchodilator reversibility or fixed AO and bronchial hyperresponsiveness can be considered to have asthma-COPD overlap syndrome (ACOS). However, patients regarded to have ACOS by spirometric criteria alone are heterogeneous and can be classified by phenotype. Eosinophilic inflammation, a history of allergic disease, and smoke exposure are important components in the classification of ACOS. Each phenotype has a different underlying pathophysiology, set of characteristics, and prognosis. Medical treatment for ACOS should be tailored according to phenotype. A narrower definition of ACOS that includes both spirometric and clinical criteria is needed. PMID:26161009

  3. Severe tracheobronchial compression in a patient with Turner's syndrome undergoing repair of a complex aorto-subclavian aneurysm: anesthesia perspectives.

    PubMed

    Hudson, Christopher C C; Stewart, Jeremie; Dennie, Carole; Malas, Tarek; Boodhwani, Munir

    2014-01-01

    We present a case of severe tracheobronchial compression from a complex aorto-subclavian aneurysm in a patient with Turner's syndrome undergoing open surgical repair. Significant airway compression is a challenging situation and requires careful preoperative preparation, maintenance of spontaneous breathing when possible, and consideration of having an alternative source of oxygenation and circulation established prior to induction of general anesthesia. Cardiopulmonary monitoring is essential for safe general anesthesia and diagnosis of unexpected intraoperative events. PMID:25281630

  4. Nevus comedonicus in oral-facial-digital syndrome type 1: a new finding or overlapping syndromes?

    PubMed

    Baker, Lauren A; Agim, Nnenna G

    2014-01-01

    We report a patient with oral-facial-digital syndrome type 1 (OFDS1) who exhibited features overlapping those of nevus comedonicus syndrome, an unusual presentation that may potentially represent a new variant of OFDS1. OFDS1 and nevus comedonicus syndrome represent two rare syndromes with numerous overlapping features that have yet to be described in relation to one another. The features present in our patient led us to propose the possibility of a new variant of OFDS1 in which nevus comedonicus represents a cutaneous manifestation of the syndrome. Knowledge of this potential relationship is important for identification and management of the syndromes' accompanying manifestations in affected patients and may offer further insight into crossroads of pathogenesis. PMID:24517846

  5. 45,X/46,XY Turner Syndrome: A Psu dic(y) can appear normal by G-banding

    SciTech Connect

    Higgins, J.V.; Gutai, J.; Shreeve, J.

    1994-09-01

    Mosaic Turner syndrome is a common finding with 50% of the individuals with Turner syndrome having a second cell line. In rare cases, the additional chromosome is reported to be a Y or variant of the Y chromosome. We report a female with Turner Syndrome, who has a mosaic pattern, with the Y chromosome by GTL-banding appearing entirely normal, about the length of chromosome 22. Quinicrine-banding revealed no heterochromatic region. The father of the girl was unavailable for analysis. C-banding resulted in the determination of two centromeric regions, one active at the primary constriction and the second was inactive. The Y centromeric probe (Oncor) showed both the active and inactive centromeres to be of Y origin. Painting using whole chromosome Y paint (Imagenetics) revealed only Y material. In cases of males and females where 45,X/46,X,dic(Y) has been reported, a mosaic pattern has resulted from both centromeres being active in early embryogenesis. In this case the resulting chromosome looks to be a normal Y in both shape and size but with a mosaic pattern. Clearly, G-banding is not always adequate to determine a dic(Y). This suggests that any 45,X/46,SY mosaic pattern in either males or females should be evaluated for a possible dicentric Y chromosome.

  6. Sexual functioning and partner relationships in women with turner syndrome: some empirical data and theoretical considerations regarding sexual desire.

    PubMed

    Rolstad, Susanna Göthlin; Möller, Anders; Bryman, Inger; Boman, Ulla Wide

    2007-01-01

    The aim of this study was to describe marital status, sexual history, and sexual functioning in a group of women with Turner syndrome, and to compare the results with general Swedish population data. The sample consists of 57 women over 18 years of age. Data were collected from an interview, and using two self-report questionnaires: the McCoy Sexual Rating Scale and the Relationship Rating Scale (RS). Compared to population data, the women with Turner syndrome were less likely to have a partner and had had their sexual debut later. Single women differed more from the general population than did women with a partner, regarding sexual desire and sexual activity. Several women with a partner reported sexual problems, but unanimously reported being satisfied with their sex life and partner relationship. The level of sexual desire in women with Turner syndrome is discussed in relation to Levine's model of human sexual desire, where psychological and social motivational factors are considered in addition to a biologically based sexual drive (Levine, 1992). PMID:17454521

  7. A Case of Overlapping Choriocapillaritis Syndromes: Multimodal Imaging Appraisal

    PubMed Central

    Kuznetcova, Tatiana; Jeannin, Bruno; Herbort, Carl P

    2012-01-01

    Purpose: To present a patient with overlapping choriocapillaritis syndromes who first presented as a typical case of multiple evanescent white dot syndrome (MEWDS) and later with characteristic findings compatible with multifocal choroiditis (MFC). Case Report: A 40-year-old myopic woman presented with a paracentral scotoma OS. Fundus examination revealed pale discolored areas around the optic disc corresponding to faintly hyperfluorescent areas on fluorescein angiography (FA). On indocyanine green angiography (ICGA) there was extensive peripapillary hypofluorescence and confluent hypofluorescent dots superiorly. According to the clinical picture, a diagnosis of MEWDS was made. In 4 weeks, the visual field reverted to normal together with almost complete regression of hypofluorescence on ICGA. However, 4 months later fundus examination revealed some scars, a finding not typical for MEWDS. Besides, she developed another scotoma 12 months later accompanied by photopsia and the fundus illustrated more numerous scars than one year earlier. ICGA showed hypofluorescent areas corresponding to the scotoma delineated by visual field testing. The pattern of this recurrence clearly corresponded to MFC. Conclusion: This case illustrates an overlap between two entities, MEWDS and MFC in two sequential episodes. FA and fundus autofluorescence accounted for the lesions and optical coherence tomography showed damage to the photoreceptor outer segments, but only ICGA correlated well with functional evolution. PMID:22737390

  8. Psychological well-being in women with Turner syndrome: somatic and social correlates.

    PubMed

    Boman, U Wide; Bryman, I; Möller, A

    2004-01-01

    Our aim was to examine possible somatic and social correlates to psychological well-being in adult women with Turner Syndrome (TS), including hormone replacement treatment Sixty-three women with a diagnosis of TS (mean age, 31.5 years) participated in a cross-sectional study, using interview data, ratings on the Psychological General Well-being (PGWB) Index, and data from medical examinations and medical records. Statistical analysis was performed by bivariate and multivariate analyses. Lack of sex hormones during adult life and the presence of hearing impairment were related to lower psychological well-being, as were higher age at diagnosis, higher age at menarche or induced bleeding, higher chronological age and retrospectively reported difficulties with school subjects. Age at diagnosis and difficulties with school subjects explained 25% of the variation in psychological well-being. This study has identified some correlates to psychological well-being in women with TS, which are important when considering the clinical management of adult women with TS. PMID:15715020

  9. Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

    PubMed

    Hamza, Rasha T; Shalaby, Mennatallah H; Hamed, Laith S; Abdulla, Dunya B A; Elfekky, Sahar M; Sultan, Omar M

    2016-02-01

    Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients. Ninety TS patients were subjected to auxological assessment, measurement of serum creatinine; and renal U/S and scintigraphy. Renal U/S detected renal anomalies in 22.22% of patients versus 17.78 % detected by scintigraphy (P = 0.035). Scintigraphy detected renal functional abnormalities in 44.44% of patients in the form of subnormal total GFR, abnormal renogram curve pattern, improper tracer handling and perfusion; and difference in split renal function >10% between both kidneys. Patients with a 45,X karyotype had more renal functional abnormalities (56%) than those with mosaic karyotype (33.33%), P = 0.04. In conclusion, renal scintigraphy is not superior to U/S in detection of renal anomalies but is a reliable method for early detection of renal malfunction in TS patients especially those with 45,X to ensure early management to offer a better quality of life. PMID:26615819

  10. Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome.

    PubMed

    Lepage, Jean-François; Dunkin, Bria; Hong, David S; Reiss, Allan L

    2013-01-01

    Social deficits are prevalent in Turner syndrome (TS); however, the extent to which these difficulties are secondary to characteristic cognitive impairments is not well known. Here, we sought to establish the relative contribution of executive functions, visuospatial abilities, and IQ to social difficulties in young girls with TS. Forty TS girls and 19 typically developing (TD) children were assessed with the Social Responsiveness Scale (SRS), the Motor-Free Visual Spatial Test (MVPT-3), the Behavior Rating Inventory of Executive Function (BRIEF), and an IQ test. Hierarchical multiple regression analyses were conducted with the SRS subscales as outcome variables. In a first step, the cognitive factors were entered (verbal IQ, BRIEF global score, MVPT-3, and age), followed by the group variable in a second step. In comparison to TD, TS participants were significantly impaired on all main measures. All six regression models with the SRS subscales were significant and revealed that global executive functions explained the largest portion of the variance on all subscales and the total score. Even after controlling for cognitive elements, the group factor still explained a significant portion of the variance of the Social Cognition, Social Awareness, and Autistic Mannerisms subscales. In contrast, the group factor was not a significant predictor of Social Motivation and Social Communication scores. These results suggest that executive dysfunctions play a role in social impairments encountered in TS, but also that some specific aspects of social behavior are altered beyond what can be attributed to cognitive difficulties in this population. PMID:22372383

  11. Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome.

    PubMed

    El-Eshmawy, Mervat M; Yahia, Sohier; El-Dahtory, Faeza A; Hamed, Sahar; El Hadidy, El Hadidy M; Ragab, Mohamed

    2013-01-01

    Background. The presence of Y chromosome material in Turner's syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients. PMID:23984076

  12. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome.

    PubMed

    López, M; Canto, P; Aguinaga, M; Torres, L; Cervantes, A; Alfaro, G; Méndez, J P; Kofman-Alfaro, S

    1998-03-01

    Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has demonstrated a higher proportion of mosaicism, and studies in different populations have shown an extremely variable frequency of Y mosaicism of 0-61%. We used Southern blot analysis and polymerase chain reaction (PCR) to detect the presence of Ycen, ZFY, SRY, and Yqh in 50 Mexican patients with UTS and different karyotypes to determine the origin of marker chromosomes and the presence of Y sequences. Our results indicated the origin of the marker chromosome in 1 patient and detected the presence of Y sequences in 4 45,X patients. Taken together, we found a 12% incidence of Y sequences in individuals with UTS. The amount of Y-derived material was variable, making the correlation between phenotype and molecular data difficult. Only 1 patient had a gonadoblastoma. We discuss the presence of Y chromosomes or Y sequences in patients with UTS and compare our frequency with that previously reported. PMID:9511973

  13. Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.

    PubMed

    Mazzanti, Laura; Lovato, Luigi; Prandstraller, Daniela; Scarano, Emanuela; Tamburrino, Federica; Montanari, Francesca; Mineo, Gian Gaspero; Perri, Annamaria; Vestrucci, Benedetta; Giardini, Andrea

    2012-05-01

    Turner syndrome (TS) is at high risk for congenital heart diseases (CHD), aortic dilatation (AoDil) and dissection. New imaging techniques such as MRI have revealed the presence of vascular anomalies (VA) undetected at echo. MR angiography has shown a high prevalence of aortic and venous anomalies. The VA often coexist and interact to increase the risk of premature death in adulthood. AoDil and VA have been found also in asymptomatic individuals with no predisposing factors, but the prevalence is still unknown. We evaluated 100 TS subjects (15-35 yrs) with no aortic CHD at echocardiography with transthoracic MRA; 42 of them showed VA and 58 did not. Aortic diameters were indexed on BSA. At the sinuses of Valsalva a higher prevalence of AoDil was found in subjects with VA than without; 57% of them showed AoDil. The presence of VA (elongation of the transverse arch, bovine arch, left superior vena cava, PAPVD etc.) increased their relative risk of AoDil by more than 2 times. Excluding BSA influence, a severe phenotype influenced positively ascending AoDil. New imaging techniques enhance our ability to provide a prognosis for their adult age and in particular before they seek to become pregnant. PMID:22946280

  14. Chiropractic management of a 30-year-old patient with Parsonage-Turner syndrome

    PubMed Central

    Charles, Eugene

    2011-01-01

    Objectives The purpose of this case report is to describe the chiropractic management of a patient presenting with right arm paralysis and a diagnosis of Parsonage-Turner syndrome. Clinical Features After receiving nerve entrapment release surgery, a 30-year-old man presented with a right arm contracture, atrophy, and weakness with general paralysis of the forearm and index finger of 6 weeks' duration. Intervention and Outcome The patient was provided chiropractic care that included high-velocity/low-amplitude spinal manipulation based upon applied kinesiology manual muscle testing, soft tissue trigger point therapy, exercises, and stretches. The patient demonstrated improvement in range of motion after the first treatment session. By the eighth treatment, he was able to fully straighten his arm. Three years later, the patient reported that he was able to do mountain climbing and that his arm was fully functional and pain-free. Conclusion For this patient, chiropractic care seemed to be successful in relieving his right arm paralysis and restoring normal arm movement. PMID:22654689

  15. Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.

    PubMed

    Bispo, Adriana Valéria Sales; dos Santos, Luana Oliveira; de Barros, Juliana Vieira; Duarte, Andrea Rezende; Araújo, Jacqueline; Muniz, Maria Tereza Cartaxo; Santos, Neide

    2015-07-01

    Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction. TS is a useful model for this investigation because patients with TS show a high frequency of chromosome mosaicism. Here we investigated the possible association of polymorphisms of the MTHFR gene with TS risk, which has been previously investigated with controversial results. We also examined the effects of MTR, RFC1, and TYMS gene polymorphisms in TS for the first time. The risk was evaluated according to allelic and genotype (independent and combined) frequencies among 70 patients with TS and 144 age-matched healthy control subjects. Polymorphism genotyping was performed by PCR, PCR-RFLP, and PCR-ASA. The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. In conclusion, our present findings did not support a link between impaired folate metabolism and abnormal chromosome segregation leading to somatic nondisjunction in TS patients. PMID:25858821

  16. Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome

    PubMed Central

    de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto

    2016-01-01

    Abstract Objective: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data source: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. Data synthesis: The main results regarding the prevalence of Y-chromosome sequences in TS were: (1) about 60% of the studies were conducted by Brazilian researchers; (2) the prevalence varied from 4.6 to 60%; (3) the most frequently investigated genes were SRY, DYZ3 and TSPY; (4) seven studies used only polymerase chain reaction, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10–25%; in two of them it was zero. Conclusions: According to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. PMID:26525685

  17. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome.

    PubMed

    Rizell, Sara; Barrenäs, Marie-Louise; Andlin-Sobocki, Anna; Stecksén-Blicks, Christina; Kjellberg, Heidrun

    2013-08-01

    The aim of this project was to study the impact on craniofacial morphology from Turner syndrome (TS) karyotype, number of intact X chromosomal p-arms, and age as well as to compare craniofacial morphology in TS with healthy females. Lateral radiographs from 108 females with TS, ranging from 5.4 to 61.6 years, were analysed. The TS females were divided into four karyotype groups: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, as well as according to the number of intact X chromosomal p-arms. The karyotype was found to have an impact on craniofacial growth, where the mosaic group, with presence of 46,XX cell lines, seems to exhibit less mandibular retrognathism as well as fewer statistically significant differences compared to the reference group than the 45,X karyotype. Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X. To our knowledge, this is the first time the 45,X/46,XX and isochromosome karyotypes are divided into separate groups studying craniofacial morphology. Impact from p-arm was found on both maxillary and mandibular length. Compared to healthy females, TS expressed a shorter posterior and flattened cranial base, retrognathic, short and posteriorly rotated maxilla and mandible, increased height of ramus, and relatively shorter posterior facial height. The impact of age was found mainly on mandibular morphology since mandibular retrognathism and length were more discrepant in older TS females than younger. PMID:22531663

  18. Women with Turner syndrome: psychological well-being, self-rated health and social life.

    PubMed

    Boman, U W; Bryman, I; Halling, K; Möller, A

    2001-06-01

    Psychological well-being, self-rated health and social situation were investigated in a cross-sectional multidisciplinary study of 63 women with Turner syndrome (TS; mean age 31.5 years, range 18-59 years). The psychological examination included a semi-structured interview, and use of two standardized self-rating scales, the Psychological General Well-being Index (PGWB) and the Nottingham Health Profile (NHP). Psychological well-being and self-rated health were similar in the women with TS and Swedish female normative data, matched for age. However, the women with TS reported more social isolation than the normative group. Within the TS group, the oldest women reported more psychological distress and poorer health than the youngest. Those with impaired self-rated health reported more emotional distress. The women with TS were studying or in employment to the same degree as the general population, although fewer were cohabiting. In the interview, both negative and positive consequences of TS were reported. This study did not find any evidence for impaired psychological well-being, although it did indicate that women with TS experience more difficulties in the area of social and partner relationships. PMID:11446152

  19. Hypothyroidism is common in turner syndrome: results of a five-year follow-up.

    PubMed

    El-Mansoury, Mostafa; Bryman, Inger; Berntorp, Kerstin; Hanson, Charles; Wilhelmsen, Lars; Landin-Wilhelmsen, Kerstin

    2005-04-01

    Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS. PMID:15623818

  20. Influence of the X-Chromosome on Neuroanatomy: Evidence from Turner and Klinefelter Syndromes

    PubMed Central

    Hoeft, Fumiko; Marzelli, Matthew J.; Lepage, Jean-Francois; Roeltgen, David; Ross, Judith; Reiss, Allan L.

    2014-01-01

    Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY). As these disorders essentially represent copy number variants of the sex chromosomes, investigation of brain structure across these disorders allows us to determine whether sex chromosome gene dosage effects exist. We used voxel-based morphometry to investigate this hypothesis in a large sample of children in early puberty, to compare regional gray matter volumes among individuals with one (45X), two (typically developing 46XX females and 46XY males), and three (47XXY) sex chromosomes. Between-group contrasts of TS and KS groups relative to respective sex-matched controls demonstrated highly convergent patterns of volumetric differences with the presence of an additional sex chromosome being associated with relatively decreased parieto-occipital gray matter volume and relatively increased temporo-insular gray matter volumes. Furthermore, z-score map comparisons between TS and KS cohorts also suggested that this effect occurs in a linear dose-dependent fashion. We infer that sex chromosome gene expression directly influences brain structure in children during early stages of puberty, extending our understanding of genotype–phenotype mechanisms underlying sex differences in the brain. PMID:24599451

  1. Unusual Turner syndrome mosaic with a triple x cell line (47,X/49,XXX) in a western lowland gorilla (Gorilla gorilla gorilla).

    PubMed

    Bradford, Carol M; Tupa, Lynn; Wiese, Debbie; Hurley, Timothy J; Zimmerman, Ralph

    2013-12-01

    A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3-4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities. PMID:24450068

  2. Voriconazole-induced periostitis in a patient with overlap syndromes.

    PubMed

    Hirota, Keisho; Yasoda, Akihiro; Fujii, Toshihito; Inagaki, Nobuya

    2014-01-01

    A 52-year-old woman with overlap syndrome and interstitial pneumonia underwent immunosuppressive therapy and she was suspected to suffer from pulmonary aspergillosis. Oral voriconazole was initiated, and a rapid elevation of alkaline phosphatase (ALP) occurred after 4 weeks. After 2 months, the patient presented diffuse pain in bilateral skeletal regions, and bone scintigraphy revealed bilateral multiple areas of increased radiotracer uptake. We suspected the skeletal involvement as voriconazole-induced periostitis. Actually, the plasma fluoride level was increased. Voriconazole was replaced with itraconazole, and after 3 weeks, the patient stopped complaining of bone pain concomitant with the decrease in ALP. Voriconazole-induced periostitis is a rare condition but had previously been reported in solid organ or patients with bone marrow transplant who received a long-term voriconazole therapy. Our present case is distinctive of previous ones, because it occurred in a patient with connective tissue disease which had its rapid progression. PMID:24599432

  3. Metolazone Associated Stevens Johnson Syndrome-Toxic Epidermal Necrolysis Overlap

    PubMed Central

    Chauhan, Ajay; Charaniya, Riyaz; Ghosh, Anindya; Tandon, Vaibhav

    2016-01-01

    Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe mucocutaneous disease with high mortality rate. It is characterised by severe necrosis and detachment of the epidermis. Drugs are the most common triggering agent for SJS/TEN. These are commonly reported with the use of aromatic antiepileptics, antiretrovirals, allopurinol, NSAID’S and sulfonamide antibiotics. Non antibiotic sulfonamides rarely cause SJS/TEN. Metolazone is a well known diuretic and is extensively used by clinicians. Although this drug is in market for last several decades, no case of SJS/TEN has been reported till date. We report a rare case of metolazone induced SJS/TEN overlap in a 55-year-old lady. PMID:27134890

  4. The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome.

    PubMed

    Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioglu, Beray Selver; Alp, Hayrullah

    2015-06-01

    Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p < 0.001) (0.1694 ± 0.025 mm in the TS group and 0.1416 ± 0.014 mm in the CS group) In children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis. PMID:25601134

  5. Final height of girls with Turner's syndrome: correlation with karyotype and parental height.

    PubMed

    Cohen, A; Kauli, R; Pertzelan, A; Lavagetto, A; Roitmano, Y; Romano, C; Laron, Z

    1995-05-01

    Final height of 75 adults with Turner's syndrome (45 Israeli, 30 Italian), never treated with GH, was examined to see if a relationship with karyotype patterns and parental height existed. Patients were divided into five groups according to their chromosome pattern, as follows: group A = 45, X karyotype (34 patients); group B = mosaicism (11 with karyotype 45,X/46,XX and 7 with karyotype 45,X/46,XY); group C = deletion of all or part of Xp (19 patients); subgroup C1 = 6 with complete deletion of Xp; subgroup C2 = 9 with mosaicism 45,X/46,X,i(Xq); subgroup C3 = 4 with 45,X/46,X,ring(X); group D = deletion of Xq (4 patients); pure gonadal dysgenesis (PGD) group = 9 patients with pure 46,XX gonadal dysgenesis. No statistical difference was noted between the mean height of the two national populations studied (Italian 142.2 +/- 5.7 and Israeli 143.0 +/- 7.2 cm). The mean heights of group D (148.9 cm; range 147-166.2) and the PGD group (156.0 cm; 141-171.5) were found to be significantly higher than those observed in groups A, B and C (p < 0.03, p < 0.02 and p < 0.02, respectively), even though gonadal distinction existed in all five groups. Subgroup C1, where a deletion of the entire Xp segment [46,X,i(Xq)] was present, was found to be the shortest group (median height 134.5; range 131.9-138 cm).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7633152

  6. A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.

    PubMed

    Kendirci, Havva Nur Peltek; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-12-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant's weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m²/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient's electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative SRY. PMID:23261864

  7. Aberrant functional network recruitment of posterior parietal cortex in Turner syndrome.

    PubMed

    Bray, Signe; Hoeft, Fumiko; Hong, David S; Reiss, Allan L

    2013-12-01

    Turner syndrome is a genetic disorder caused by the complete or partial absence of an X chromosome in affected women. Individuals with TS show characteristic difficulties with executive functions, visual-spatial and mathematical cognition, with relatively intact verbal skills, and congruent abnormalities in structural development of the posterior parietal cortex (PPC). The functionally heterogeneous PPC has recently been investigated using connectivity-based clustering methods, which sub-divide a given region into clusters of voxels showing similar structural or functional connectivity to other brain regions. In the present study, we extended this method to compare connectivity-based clustering between groups and investigate whether functional networks differentially recruit the PPC in TS. To this end, we parcellated the PPC into sub-regions based on temporal correlations with other regions of the brain. fMRI data were collected from 15 girls with TS and 14 typically developing (TD) girls, aged 7-14, while they performed a visual-spatial task. Temporal correlations between voxels in the PPC and a set of seed regions were calculated, and the PPC divided into clusters of voxels showing similar connectivity. It was found that in general the PPC parcellates similarly in TS and TD girls, but that regions in bilateral inferior parietal lobules, and posterior right superior parietal lobule, were reliably recruited by different networks in TS relative to TD participants. These regions showed weaker correlation in TS with a set of regions involved in visual processing. These results suggest that abnormal development of visuospatial functional networks in TS may relate to the well documented cognitive difficulties in this disorder. PMID:22711287

  8. Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature.

    PubMed

    Kota, Sunil Kumar; Gayatri, Kotni; Pani, Jaya Prakash; Kota, Siva Krishna; Meher, Lalit Kumar; Modi, Kirtikumar D

    2012-05-01

    We report a 17-year-old girl evaluated for primary amenorrhea. Cytogenetic analysis of the peripheral blood lymphocytes revealed normal autosomes with 46X inv (Y) confirming the diagnosis of Turner's syndrome with Y cell line. Treatment was initiated with conjugated estrogen while recommending bilateral prophylactic oophorectomy to the patient. One year later the patient presented with abdominal mass, biopsy of the specimen following resection confirmed dysgerminoma originating from right ovary with no invasion or metastasis. The literature is reviewed with regard to the various pathogenetic mechanisms proposed for the development of germ cell tumors in ovary, the cytogenetic findings and recommendations to handle such scenario. PMID:22629515

  9. Lichen planus-like drug reaction associated with recombinant human growth hormone therapy in a child patient with Turner syndrome.

    PubMed

    Soares, Mariana Quirino Silveira; Mendonca, Elismauro Fancisco

    2016-01-01

    Turner syndrome (TS) is a genetic disease with an incidence rate of between 1:2000 and 1:5000 live female births. The treatment of TS differs according to age and Recombinant Human Growth Hormone (RHGH) therapy is usually given for the treatment of short stature in girls with TS in childhood. We describe the first case of a TS patient who presented with a clinical picture compatible with oral and palmoplantar lichen planus-like reaction during RHGH therapy; spontaneous remission occurred after therapy suspension. PMID:27136634

  10. Asthma-COPD overlap syndrome (ACOS): A diagnostic challenge.

    PubMed

    Tho, Nguyen Van; Park, Hye Yun; Nakano, Yasutaka

    2016-04-01

    Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD. ACOS may be a special phenotype of a spectrum of chronic obstructive airway diseases, in which asthma and COPD are at the two opposite ends. The prevalence of ACOS varies considerably due to differing criteria being applied for diagnosis. Patients with ACOS utilize a large proportion of medical resources. They are associated with more frequent adverse outcomes than those with asthma or COPD alone. ACOS is currently a diagnostic challenge for physicians because there are no specific biomarkers to differentiate ACOS from asthma or COPD. The approach to diagnosing ACOS depends on the population from which the patient originated. The management of ACOS should be individualized to ensure the most effective treatment with minimal side effects. In this paper, we review the diagnostic criteria of ACOS used in previous studies, propose practical approaches to diagnosing and managing ACOS and raise some research questions related to ACOS. PMID:26450153

  11. Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome.

    PubMed

    Meena, Alpana; Daga, Mradul Kumar; Dixit, Rashmi

    2016-01-01

    Gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) are the most common causes of primary amenorrhoea. Patients with gonadal dysgenesis present with primary amenorrhoea and lack of secondary sexual characteristics, which, in contrast, are present in patients with MRKHS. The coexistence of the 2 syndromes has been reported in only a few studies so far. We describe a case of a 15-year-old girl who presented with short stature and primary amenorrhoea. Investigations revealed hypergonadotropic hypogonadism, and absence of the uterus, and upper two-thirds of the vagina, with presence of the rudimentary lower third of the vagina and non-visualised bilateral ovaries on imaging. Karyotyping obtained by lymphocyte culture GTG banding revealed 45X/46XX. The patient was diagnosed as having a rare case of gonadal dysgenesis with MRKH. She was started on growth hormone therapy. The association of these syndromes is uncommon, and has further implications on fertility and pregnancy, affecting the quality of life. PMID:27207981

  12. A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome.

    PubMed

    Lin, Henry C; Fiorino, Kristin N; Blick, Carly; Anupindi, Sudha A

    2015-01-01

    We present a unique case of juvenile polyposis and hereditary hemorrhagic telangiectasia overlap syndrome. The patient was found to have polyps on colonoscopy leading to genetic testing revealing an SMAD4 mutation. In children with SMAD4 mutation and juvenile polyposis, this overlap syndrome needs to be considered in the differential diagnosis and prompt the clinician to look for telangiectasias on examination and consider surveillance imaging to look for arteriovenous malformations. Our case highlights this clinical relationship and shows how nontraditional imaging using computed tomography colonography (CTC) can provide complimentary information along with colonoscopy. Despite low-dose techniques, CTC does add a radiation burden in the evaluation of these children who are at high risk for malignancy and should be used cautiously. PMID:25432397

  13. Oocyte donation in Turner's syndrome: an analysis of the factors affecting the outcome.

    PubMed

    Khastgir, G; Abdalla, H; Thomas, A; Korea, L; Latarche, L; Studd, J

    1997-02-01

    A total of 29 women with Turner's syndrome (19 monosomy and 10 mosaic) had 68 cycles of oocyte donation that included 29 cycles of initial attempt and 39 cycles of subsequent attempts. Oral oestradiol valerate was used either in a variable dose (42 cycles) or in a constant dose (26 cycles) regimen for the endometrial preparation which was monitored by pelvic ultrasonography. The embryos/zygotes were transferred either fresh (50 cycles) or after cryopreservation (18 cycles) into the Fallopian tube (41 cycles) and uterine cavity (27 cycles) as appropriate. There were 28 clinical pregnancies including two sets of triplets resulting in a pregnancy rate of 41.2% per treatment cycle and an implantation rate of 17.1% per embryo transferred. The recipient's age, chromosomal constitution or associated uterine or tubal anomaly had no influence on the treatment outcome. The implantation and pregnancy rates were higher in the subsequent than initial cycles (22.6 versus 9.99%, P < 0.05; 51.3 versus 27.6%, P < 0.05). An endometrial thickness of > or = 6.5 mm was an important predictor of pregnancy but the endometrial echo pattern failed to predict the outcome. Although the total dose of oestradiol before embryo transfer was higher in the pregnant cycles than the non-pregnant ones and its gradation (< 50 mg, 50-100 mg, < 100 mg) influenced the implantation (3.4, 17.5, 26.3% respectively, P < 0.05) and pregnancy rates (10, 42.2, 61.5% respectively, P < 0.05), the effect was indirect by altering the endometrial thickness. The number of oocytes fertilized affected the pregnancy rate irrespective of the number of embryos transferred. The implantation and pregnancy rates were higher when fresh rather than frozen-thawed embryos were transferred (20.3 versus 8.2%, P < 0.05; 48 versus 22.2%, P < 0.05) but the route of transfer was of no statistical importance. The overall miscarriage rate was higher (50%), and was related to the presence of hypoplastic or bicornuate uterus and to a low

  14. Assessment of Turner's syndrome by molecular analysis of the X chromosome in growth-retarded girls.

    PubMed

    Gicquel, C; Gaston, V; Cabrol, S; Le Bouc, Y

    1998-05-01

    Turner's syndrome (TS) is a common disorder (1/2500 to 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood or at puberty for the rest. Growth retardation is the most frequent clinical feature of TS, so we systematically searched for TS in female patients referred to our center because of short stature. Three hundred seventy-five female patients, 1 month to 18 yr old (mean +/- SD = 9(7/12) +/- 3(9/12), with growth retardation (less than -2 SD) and/or decreased height velocity were included in the study. Mean growth retardation was -2.57 SD +/- 0.79 (range: -1 to -7). Thirty-two percent of the patients had reached puberty. GH provocative tests were performed in 329 patients (87.7%), and 36 of these patients (11%) had impaired GH secretion (5 complete and 31 partial GH deficiency). TS was evaluated by Southern blot analysis of leukocyte DNA using a multiallelic polymorphic X chromosome marker (88% heterozygosity rate). Y chromosome PCR analysis was carried out if a pattern indicative of TS was obtained. Leukocyte DNA analysis produced an abnormal restriction pattern for 20 of the 375 cases (5.3%). There was a single hybridizing band in 13 cases, an allelic disproportion indicative of mosaicism in 6 cases, and 3 hybridizing bands in 1 case. One patient tested positive in the Y chromosome PCR analysis. Cytogenetic analysis showed 47 XXX trisomy in the patient with a 3-hybridizing-band pattern and confirmed the diagnosis of TS for 17 of the 19 suspected cases: 45 X: n = 7; 45 X/46 Xi(Xq): n = 4; 45 X/46 XX: n = 2; 46 Xi(Xq): n = 1; 45 X/46 Xr(X): n = 1; 45 X/46 XX/47 XXX: n = 1; 45 X/46 XY: n = 1. Cytogenetic analysis was normal (46 XX) for the 2 other patients. The TS phenotype is variable: dysmorphism is often missing or mild (particularly in cases of mosaicism), but growth is reduced in virtually all patients. Screening of 375 growth-retarded girls identified 18 cases of TS, of which 17 were diagnosed by molecular

  15. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

    PubMed Central

    Yeşilkaya, Ediz; Bereket, Abdullah; Darendeliler, Feyza; Baş, Firdevs; Poyrazoğlu, Şükran; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Sarı, Erkan; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Abalı, Saygın; Akın, Leyla; Selver Eklioğlu, Beray; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Fidancı, Kürşat; Polat, Adem; Gül, Davut; Açıkel, Cengizhan; Demirbilek, Hüseyin; Cinaz, Peyami; Bondy, Carolyn

    2015-01-01

    Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. PMID:25800473

  16. What pulmonologists think about the asthma–COPD overlap syndrome

    PubMed Central

    Miravitlles, Marc; Alcázar, Bernardino; Alvarez, Francisco Javier; Bazús, Teresa; Calle, Myriam; Casanova, Ciro; Cisneros, Carolina; de-Torres, Juan P; Entrenas, Luis M; Esteban, Cristóbal; García-Sidro, Patricia; Cosio, Borja G; Huerta, Arturo; Iriberri, Milagros; Izquierdo, José Luis; López-Viña, Antolín; López-Campos, José Luis; Martínez-Moragón, Eva; Pérez de Llano, Luis; Perpiñá, Miguel; Ros, José Antonio; Serrano, José; Soler-Cataluña, Juan José; Torrego, Alfons; Urrutia, Isabel; Plaza, Vicente

    2015-01-01

    Background Some patients with COPD may share characteristics of asthma; this is the so-called asthma–COPD overlap syndrome (ACOS). There are no universally accepted criteria for ACOS, and most treatments for asthma and COPD have not been adequately tested in this population. Materials and methods We performed a survey among pulmonology specialists in asthma and COPD aimed at collecting their opinions about ACOS and their attitudes in regard to some case scenarios of ACOS patients. The participants answered a structured questionnaire and attended a face-to-face meeting with the Metaplan methodology to discuss different aspects of ACOS. Results A total of 26 pulmonologists with a mean age of 49.7 years participated in the survey (13 specialists in asthma and 13 in COPD). Among these, 84.6% recognized the existence of ACOS and stated that a mean of 12.6% of their patients might have this syndrome. In addition, 80.8% agreed that the diagnostic criteria for ACOS are not yet well defined. The most frequently mentioned characteristics of ACOS were a history of asthma (88.5%), significant smoking exposure (73.1%), and postbronchodilator forced expiratory volume in 1 second/forced vital capacity <0.7 (69.2%). The most accepted diagnostic criteria were eosinophilia in sputum (80.8%), a very positive bronchodilator test (69.2%), and a history of asthma before 40 years of age (65.4%). Up to 96.2% agreed that first-line treatment for ACOS was the combination of a long-acting β2-agonist and inhaled steroid, with a long-acting antimuscarinic agent (triple therapy) for severe ACOS. Conclusion Most Spanish specialists in asthma and COPD agree that ACOS exists, but the diagnostic criteria are not yet well defined. A previous history of asthma, smoking, and not fully reversible airflow limitation are considered the main characteristics of ACOS, with the most accepted first-line treatment being long-acting β2-agonist/inhaled corticosteroids. PMID:26270415

  17. [Multiple autoimmune syndrome. Reynolds-syndrome (acral scleroderma, primary biliary cirrhosis, Sjögren syndrome) associated with the lupus erythematosus/lichen planus overlap syndrome].

    PubMed

    Müller, F B; Groth, W; Mahrle, G

    2004-05-01

    A female patient presented with acral scleroderma, Sjögren syndrome, antibodies specific for primary biliary cirrhosis and clinical as well as histological features of lichen planus and subacute lupus erythematosus. In addition an euthyroid Hashimoto thyroiditis was found. Her findings correspond to type II of the multiple autoimmune syndrome (MAS) and can be described as an association of Reynolds syndrome and the lupus erythematosus/lichen planus-overlap syndrome. PMID:15138654

  18. Anti-AMPA-Receptor Encephalitis Presenting as a Rapid-Cycling Bipolar Disorder in a Young Woman with Turner Syndrome

    PubMed Central

    Quaranta, Giuseppe; Maremmani, Angelo Giovanni Icro; Perugi, Giulio

    2015-01-01

    Background. Autoimmune encephalitis is a disorder characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. Case Description. We describe a 20-year-old woman with Turner syndrome presenting with a treatment-resistant rapid cycling bipolar disorder with cognitive impairment. She was diagnosed with anti-AMPA-receptor encephalitis. She showed marked improvement after starting memantine and valproic acid. Conclusion. This case description emphasises the importance of timely recognition of autoimmune limbic encephalitis in patients with psychiatric manifestations and a possible predisposition to autoimmune conditions, in order to rule out malignancy and to quickly initiate treatment. PMID:26495149

  19. Ascites in the Puerperium in the Context of a Woman with Turner Syndrome Who Conceived through Assisted Reproductive Technology

    PubMed Central

    Tsagkas, Nikolaos; Valasoulis, George; Zikopoulos, Konstantinos; Zerzi, Calliope; Mitselos, Ioannis; Koutoulakis, Ioannis; Tzampouras, Nikolaos; Stefos, Theodor

    2015-01-01

    The case is about a young female who delivered twins by caesarean section (CS). On the 4th postoperative day, she presented with ascites which was resistant to empirical antibiotic and diuretic treatment. The woman was affected by Turner syndrome (TS); she had a medical background of chronic use of hormonal medication since puberty and conceived through ART- (assisted reproduction techniques-) IVF-oocyte donation. It is important to exhibit high suspicion for clot formation in the hepatic vasculature during the puerperium, especially in the case of history of chronic hormone treatment. Ascites albumin gradient and Doppler values lead to the diagnosis of thrombosis and the administration of high doses of anticoagulants is considered to be fundamental. PMID:26579320

  20. Renal denervation for severe hypertension in a small child with Turner syndrome: miniaturisation of the procedure and results.

    PubMed

    Bonanni, Alice; Pasetti, Francesco; Ghiggeri, Gian Marco; Gandolfo, Carlo

    2015-01-01

    Sympathetic nervous system hyperactivity plays a role in development and progression of hypertension. While renal denervation employing radiofrequency devices has been used therapeutically in treating severe hypertension with alternate results in adults, few data are available regarding children. We treated a 6-year-old girl affected by Turner syndrome presenting severe hypertension and an episode of stroke, in spite of treatment with four antihypertensive drugs, with sympathetic ablation. The Simplicity device (Medtronic, Minneapolis, USA) was adapted to the smaller vessels, allowing a tailored approach. After 3 and 6 months of treatment, and β-blocker discontinuation, blood pressure values were set between the 90th and 95th centiles for sex and age, and normalised at 12 months. We confirm that renal denervation can be used to treat severe hypertension in children; miniaturisation of catheter and tailoring the procedure for small vessels allowed a safe approach. Progressive improvement of blood pressure had a satisfactory clinical impact. PMID:25759273

  1. Ullrich-Turner Syndrome and Tumor Risk: Is There Another Chance to Early Gonadectomy in Positive TSPY and SRY Patients?

    PubMed

    Silveri, Massimiliano; Grossi, Armando; Bassani, Francesca; Orazi, Cinzia; Camassei, Francesca Diomedi; Zaccara, Antonio

    2016-06-01

    The presence of the Y chromosome in the karyotype of patients with disorders of sex differentiation is significantly associated with an increased risk to develop specific types of malignancies, predominantly type II germ cell tumors (GCTs). Gonadoblastoma in the gonads without an obvious testicular differentiation and intratubular germ cell neoplasia of unclassified type in testicular tissue are the precursor lesions of most GCTs. Gonadal dysgenesis, the characteristic feature of Ullrich-Turner syndrome (UTS), further contributes to increase this tumor risk. The reported incidence of Y chromosome material in UTS is 6 to 8% and in these cases an early gonadectomy is strongly recommended to prevent the risk of a malignancy. The aim of this work was to retrospectively analyze the clinical outcome and the histopathological and cytogenetic findings of our UTS patients who underwent gonadectomy to establish strict selection criteria aimed at promoting an organ-sparing surgery. PMID:25978024

  2. A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndrome

    PubMed Central

    Granata, Francesca; Morabito, Rosa; Grasso, Giovanni; Alafaci, Elisabetta; Salpietro, Francesco M.; Alafaci, Concetta

    2016-01-01

    Background: Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of cells with characteristics similar to bone marrow-derived Langerhans cells. The case of a young woman, affected by Turner syndrome and a solitary intraparenchymal LCH associated with an osteolytic lesion of the overlying skull, is presented. Case Description: The patient, with an insidious history of headache and a growing soft mass in the left frontal region, presented with a sudden generalized tonic-clonic epileptic seizure. Neuroradiological investigations showed an osteolytic lesion of the left frontal bone and an underlying brain lesion associated with recent signs of bleeding. The patient was operated on with a complete removal of the lesion. The postoperative course was uneventful. Conclusions: The clinical, neuroradiological, and intraoperative findings are presented, along with a review of the literature. Although rare, LCH should be considered in the differential diagnosis when a scalp lesion occurs with a progressive growing. PMID:27127696

  3. Spontaneous uterine rupture at 14 weeks gestation during a pregnancy consecutive to an oocyte donation in a woman with Turner's syndrome.

    PubMed

    Masia, Florent; Zoric, Lana; Ripart-Neveu, Sylvie; Marès, Pierre; Ripart, Jacques

    2015-04-01

    We describe a spontaneous uterine rupture at 14 weeks gestation in a Turner patient. A 39 year-old patient was admitted for abdominal pain and hypotension at 14 weeks of pregnancy. The pregnancy had been obtained by oocyte donation and in vitro fertilization (IVF) because of Turner's syndrome. The abdominal ultrasound scan showed a normal pregnancy and a conserved foetal cardiac activity. It also showed a large amount of free fluid in the perihepatic space. Haemoglobin was 11.2 g/dL. After hemodynamic degradation, urgent laparoscopy showed an unrepairable uterine rupture with partial exteriorisation of the pregnancy, and placenta percreta. Urgent conversion to laparotomy allowed haemostatic hysterectomy. Uterine rupture during pregnancy obtained by oocyte donation in Turner's syndrome may be life threatening. The possibility of such a complication should be considered before oocyte donation for IVF in Turner's patients. Early spontaneous uterine rupture (second trimester) is a challenging diagnostic that should be evoked in case of non-specific abdominal pain in the presence of risk factors. PMID:25858617

  4. Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

    PubMed Central

    van der Lelij, Petra; Oostra, Anneke B.; Rooimans, Martin A.; Joenje, Hans; de Winter, Johan P.

    2010-01-01

    Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA. In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known cohesinopathies, that is, Roberts syndrome (RBS) and Warsaw breakage syndrome (WABS). This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA. PMID:21490908

  5. A Case of Fisher-Bickerstaff Syndrome Overlapped by Guillain-Barré Syndrome

    PubMed Central

    Fujii, Daiki; Manabe, Yasuhiro; Takahasi, Yosiaki; Narai, Hisashi; Omori, Nobuhiko; Kusunoki, Susumu; Abe, Koji

    2012-01-01

    We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process. PMID:23275783

  6. Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.

    PubMed

    Sachdev, Manav; Rastogi, Anju; Singh, Ankur; Kumar, Kamlesh; Kapoor, Seema; Bansal, Yuvika; Goel, Shilpa

    2013-01-01

    We describe two siblings with epiphora, telecanthus, expressionless face, thick facial skin, bulky nose and profound sensorineural hearing loss. Constellation of these features presented a phenotypic overlap with Blepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition had posterior helical pits. The molecular basis of NMLS is known, while BNFS remains an elusive disorder. We report the first Indian family with features having significant overlap between the two but we attempt to summarize the frequency of reported features and bring out the most consistent features for these two syndromes for the treating clinician. PMID:22697357

  7. Gonadal mixed germ cell tumor combined with a large hemangiomatous lesion in a patient with Turner's syndrome and 45,X/46,X, +mar karyotype.

    PubMed

    Tanaka, Y; Sasaki, Y; Tachibana, K; Maesaka, H; Imaizumi, K; Nishihira, H; Nishi, T

    1994-11-01

    In this report, we describe bilateral gonadal tumors with characteristic histopathological findings in a patient with Turner's syndrome who had 45,X/46,X, +mar mosaicism. The left gonad contained a gonadoblastoma and a remnant of streak gonad. The right gonad was entirely replaced by a 15x11x7-cm solid and cystic tumor, which was revealed to be a combination of a mixed germ cell tumor and a cavernous hemangiomatous lesion. The latter occupied approximately half of the entire tumor volume, and there was an incomplete boundary between it and the mixed germ cell tumor lesion. To our knowledge, this is the first reported case of Turner's syndrome with a combination of a mixed germ cell tumor and a hemangiomatous lesion in the gonad. PMID:7979900

  8. Megacystis-microcolon-intestinal hypoperistalsis and prune belly: overlapping syndromes.

    PubMed

    Levin, Terry L; Soghier, Lamia; Blitman, Netta M; Vega-Rich, Carlos; Nafday, Suhas

    2004-12-01

    Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare, often fatal condition. Infants present with a functional obstruction of the gastrointestinal tract (GI), malrotation, microcolon, and a large nonobstructed bladder. Several features common to both MMIHS and Eagle-Barrett or prune belly syndrome (PBS) include hydronephrosis, bladder distension and laxity of the abdominal wall musculature. Additionally, MMIHS and PBS have been reported in the same family, suggesting the possibility of a common pathogenesis. MMIHS usually presents in female infants. We present a male infant diagnosed with both MMIHS and PBS. This is a unique case in which both MMIHS and true PBS are present in the same infant. PMID:15289943

  9. Prevalence of autoantibodies to endocrine organs in girls with Ullrich-Turner syndrome aged 5-14 years.

    PubMed

    Glück, M; Attanasio, A; Speer, U; Butenandt, O; Tietze, H U; Scherbaum, W A

    1992-01-01

    Endocrine function tests and a broad panel of autoantibodies to endocrine organs were assessed in 77 patients aged 5-14 years with Ullrich-Turner syndrome (UTS), who were included in the German UTS Multicenter Study. None of these patients had abnormal pituitary, thyroid or adrenocortical function, as assessed by the adequate hormone tests. Antibodies to thyroid microsomes were found in 3 of the 77 (3.9%), antibodies to thyroglobulin in 0/77, antibodies to adrenocortical cells in 1/77 (1.3%), gastric parietal cell antibodies in 2/77 (2.6%), and anterior pituitary cell antibodies in 3/77 (3.9%) probands. These prevalences were not significantly higher than those obtained in 154 age- and sex-matched normal control children when 2 control subjects were assigned to each patient with UTS. Our data do not show an increase in serological signs of endocrine autoimmunity in young patients with UTS suggesting that a putative association of these syndromes does not exist from birth and is not usually present in childhood. However, we cannot exclude the possibility that UTS is associated with factors that render these patients more susceptible to endocrine autoimmunity later in life. PMID:1306841

  10. The clinical and genetic features of the COPD asthma overlap syndrome

    PubMed Central

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J. R.; Make, Barry J.; Crapo, James D.; Silverman, Edwin K.; Hersh, Craig P.

    2014-01-01

    Background Individuals with COPD and asthma are an important but poorly characterized group. The genetic determinants of COPD-asthma overlap have not been studied. Objective Identify clinical features and genetic risk factors for COPD-asthma overlap. Methods Subjects were current or former smoking non-Hispanic whites (NHW) or African-Americans (AA) with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the NHW and AA populations, and combined these results in a meta-analysis. Results More women and African Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema, and greater airway wall thickness compared to subjects with COPD alone. The NHW GWAS identified SNPs in CSMD1 (rs11779254, P=1.57×10−6) and SOX5(rs59569785, P=1.61×10−6) and the meta-analysis identified SNPs in the gene GPR65 (rs6574978, P=1.18×10−7) associated with COPD-asthma overlap. Conclusions Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD-asthma overlap is an important syndrome and may require distinct clinical management. PMID:24876173

  11. Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients.

    PubMed

    Prandstraller, D; Mazzanti, L; Picchio, F M; Magnani, C; Bergamaschi, R; Perri, A; Tsingos, E; Cacciari, E

    1999-01-01

    The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni. There are few studies about the different cardiologic problems stemming from different chromosomal patterns of X monosomies. We reviewed a large series of 136 patients with Turner syndrome without cardiologic preselection, 29 of whom had some kind of CHD (21.5%). Partial anomalous pulmonary venous drainage (PAPVD; 2.9%), aortic valve disease (stenosis and/or incompetence) (AoVD; 5. 1%), aortic coarctation (AoCo; 4.4%), and bicuspid aortic valve (BicAo; 14.7%) are much more frequent in Turner's syndrome than in the normal population, with the difference being statistically highly significant. In our cases, only the 45, X subjects showed severe CHD and multiple lesions, whereas the X-ring pattern was associated with an elevated prevalence of BicAo. Patients with X-deletion showed no signs of congenital heart malformations. Eleven patients, all with 45, X pattern, and significant CHD, underwent cardiac surgery at a mean age of 7.7 +/- 5.3 years (range 7 days-18 years) without complications. At follow-up of 3-18 years (8.6 +/- 5. 2), we were unable to observe any type of evolution of the remaining untreated cardiovascular anomalies. PMID:9986886

  12. Autoimmune thrombocytopenia (AITP) and thyroid autoimmune disease (TAD): overlapping syndromes?

    PubMed Central

    Cordiano, I; Betterle, C; Spadaccino, C A; Soini, B; Girolami, A; Fabris, F

    1998-01-01

    The pathogenesis of thrombocytopenia associated with TAD and the occurrence of overlapping traits between TAD and AITP are still a matter of debate. For this reason, we investigated for the presence and specificity of platelet and thyroid autoantibodies in 18 TAD patients with thrombocytopenia, 19 TAD patients without thrombocytopenia and in 22 patients with primary AITP without clinical signs of TAD. Platelet-associated IgG and/or specific circulating platelet autoantibodies were detected in 83% of patients with TAD and thrombocytopenia, in 10% of patients with TAD without thrombocytopenia and in 86% of patients with primary AITP. The reactivity of serum autoantibodies, assayed by MoAb immobilization of platelet antigens (MAIPA), was directed against platelet glycoproteins Ib and/or IIb/IIIa in 50% of the patients with TAD and thrombocytopenia, as in 46% of the patients with primary AITP. Thyroid autoantibodies were found in 89% of patients with TAD and thrombocytopenia, in 95% of patients with TAD without thrombocytopenia, and in 18% of patients with primary AITP. Thyrotropin (TSH) levels determined in three of four AITP patients with thyroid autoantibodies revealed a subclinical hyperthyroidism in one patient. The present study supports the autoimmune aetiology of thrombocytopenia associated with TAD, since the prevalence and specificity of platelet autoantibodies are similar in TAD and primary AITP. The results indicate also that there exists an overlap between thyroid and platelet autoimmunity with or without clinical manifestations. PMID:9737665

  13. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

    PubMed Central

    Greenhaw, G A; Hebert, A; Duke-Woodside, M E; Butler, I J; Hecht, J T; Cleaver, J E; Thomas, G H; Horton, W A

    1992-01-01

    Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair. Images Figure 1 Figure 1 Figure 2 Figure 3 PMID:1372469

  14. Therapeutic approaches in myelofibrosis and myelodysplastic/myeloproliferative overlap syndromes.

    PubMed

    Sochacki, Andrew L; Fischer, Melissa A; Savona, Michael R

    2016-01-01

    The discovery of JAK2 (V617F) a decade ago led to optimism for a rapidly developing treatment revolution in Ph(-) myeloproliferative neoplasms. Unlike BCR-ABL, however, JAK2 was found to have a more heterogeneous role in carcinogenesis. Therefore, for years, development of new therapies was slow, despite standard treatment options that did not address the overwhelming symptom burden in patients with primary myelofibrosis (MF), post-essential thrombocythemia MF, post-polycythemia vera MF, and myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) syndromes. JAK-STAT inhibitors have changed this, drastically ameliorating symptoms and ultimately beginning to show evidence of impact on survival. Now, the genetic foundations of myelofibrosis and MDS/MPN are rapidly being elucidated and contributing to targeted therapy development. This has been empowered through updated response criteria for MDS/MPN and refined prognostic scoring systems in these diseases. The aim of this article is to summarize concisely the current and rationally designed investigational therapeutics directed at JAK-STAT, hedgehog, PI3K-Akt, bone marrow fibrosis, telomerase, and rogue epigenetic signaling. The revolution in immunotherapy and novel treatments aimed at previously untargeted signaling pathways provides hope for considerable advancement in therapy options for those with chronic myeloid disease. PMID:27143923

  15. Therapeutic approaches in myelofibrosis and myelodysplastic/myeloproliferative overlap syndromes

    PubMed Central

    Sochacki, Andrew L; Fischer, Melissa A; Savona, Michael R

    2016-01-01

    The discovery of JAK2V617F a decade ago led to optimism for a rapidly developing treatment revolution in Ph− myeloproliferative neoplasms. Unlike BCR–ABL, however, JAK2 was found to have a more heterogeneous role in carcinogenesis. Therefore, for years, development of new therapies was slow, despite standard treatment options that did not address the overwhelming symptom burden in patients with primary myelofibrosis (MF), post-essential thrombocythemia MF, post-polycythemia vera MF, and myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) syndromes. JAK–STAT inhibitors have changed this, drastically ameliorating symptoms and ultimately beginning to show evidence of impact on survival. Now, the genetic foundations of myelofibrosis and MDS/MPN are rapidly being elucidated and contributing to targeted therapy development. This has been empowered through updated response criteria for MDS/MPN and refined prognostic scoring systems in these diseases. The aim of this article is to summarize concisely the current and rationally designed investigational therapeutics directed at JAK–STAT, hedgehog, PI3K–Akt, bone marrow fibrosis, telomerase, and rogue epigenetic signaling. The revolution in immunotherapy and novel treatments aimed at previously untargeted signaling pathways provides hope for considerable advancement in therapy options for those with chronic myeloid disease. PMID:27143923

  16. Direct acting antiviral therapy is curative for chronic hepatitis C/autoimmune hepatitis overlap syndrome

    PubMed Central

    Sahebjam, Farhad; Hajdu, Cristina H; Nortey, Esther; Sigal, Samuel H

    2016-01-01

    Autoimmune phenomena are common in patients with chronic hepatitis C. Management of chronic hepatitis C/autoimmune hepatitis syndrome has until recently been problematic due to the adverse effects of interferon on autoimmune processes and immunosuppression on viral replication. In this report we describe 3 patients with chronic hepatitis C/autoimmune hepatitis overlap syndrome who responded rapidly to direct acting anti-viral therapy. The resolution of the autoimmune process supports a direct viral role in its pathophysiology. PMID:27190580

  17. Neuroleptic malignant syndrome in an elderly patient with normal pressure hydrocephalus overlapping corticobasal degeneration.

    PubMed

    Isik, Ahmet Turan; Soysal, Pinar

    2015-06-01

    In this case report, neuroleptic malignant syndrome (NMS) in an elderly patient with normal pressure hydrocephalus overlapping corticobasal degeneration was reported. The case highlights the need for clinicians to be cautious when using dopaminergic medication in the elderly patients, since these agents have risks for NMS which is a life-threatening complication. Additionally, co-occurrence of primary and secondary parkinsonian dementia syndromes should be kept in mind to avoid additional complications in the elderly patients. PMID:25280791

  18. Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.

    PubMed

    Bispo, Adriana Valéria Sales; Burégio-Frota, Pollyanna; Oliveira dos Santos, Luana; Leal, Gabriela Ferraz; Duarte, Andrea Rezende; Araújo, Jacqueline; Cavalcante da Silva, Vanessa; Muniz, Maria Tereza Cartaxo; Liehr, Thomas; Santos, Neide

    2014-10-01

    Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype. PMID:25294360

  19. Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome.

    PubMed

    Kim, J W; Cho, E H; Kim, Y M; Kim, J M; Han, J Y; Park, S Y

    2000-03-31

    Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients. PMID:10762060

  20. Trends in age and anthropometric data at start of growth hormone treatment for girls with Turner syndrome in Japan.

    PubMed

    Isojima, Tsuyoshi; Yokoya, Susumu; Ito, Junko; Horikawa, Reiko; Tanaka, Toshiaki

    2008-12-01

    The purpose of this study is to evaluate the trends in age and anthropometric data for girls with Turner syndrome (TS) at start of growth hormone (GH) treatment in Japan. The data for analysis were obtained from a retrospective cohort, the Foundation for Growth Science, Japan. We analyzed trends in starting age of GH treatment for girls with TS in Japan after dividing subjects (n=1,478) into three registration periods: 1991-1994, 1995-1999 and 2000-2004. We also assessed the ratio of the subpopulation of subjects under five years of age. As results, the mean age (standard deviation (SD)) at start of GH treatment was significantly different among the three groups (10.95 (3.63), 10.15 (3.39) and 8.78 (3.61), p<0.0001). The proportion of the subjects under five years of age increased significantly over time (5.11%, 7.11% and 16.85%, p<0.0001). Mean (SD) height SD scores were also significantly different (-3.41 (0.87), -3.26 (0.81) and -3.17 (0.79), p<0.0001). However, the proportions of the karyotype of 45,X were not significantly different among the three groups (p=0.25). We concluded that age and shortness at initiation of GH treatment had been improving over time. However, these favorable trends have not fully met the conditions recommended by international clinical guidelines for TS. PMID:18753703

  1. Cortical Brain Morphology in Young, Estrogen-Naive, and Adolescent, Estrogen-Treated Girls with Turner Syndrome

    PubMed Central

    Lepage, Jean-Francois; Mazaika, Paul K.; Hong, David S.; Raman, Mira; Reiss, Allan L.

    2013-01-01

    Turner syndrome (TS) is a genetic condition that permits direct investigation of the complex interaction among genes, hormones, behavior, and brain development. Here, we used automated segmentation and surface-based morphometry to characterize the differences in brain morphology in children (n = 30) and adolescents (n = 16) with TS relative to age- and sex-matched control groups (n = 21 and 24, respectively). Our results show that individuals with TS, young and adolescent, present widespread reduction of gray matter volume, white matter volume and surface area (SA) over both parietal and occipital cortices bilaterally, as well as enlarged amygdala. In contrast to the young cohort, adolescents with TS showed significantly larger mean cortical thickness and significantly smaller total SA compared with healthy controls. Exploratory developmental analyses suggested aberrant regional brain maturation in the parahippocampal gyrus and orbitofrontal regions from childhood to adolescence in TS. These findings show the existence of abnormal brain morphology early in development in TS, but also suggest the presence of altered neurodevelopmental trajectories in some regions, which could potentially be the consequences of estrogen deficiency, both pre- and postnatally. PMID:22806268

  2. Overlapping demyelinating syndromes and anti-NMDA receptor encephalitis

    PubMed Central

    Titulaer, Maarten J.; Höftberger, Romana; Iizuka, Takahiro; Leypoldt, Frank; McCracken, Lindsey; Cellucci, Tania; Benson, Leslie A.; Shu, Huidy; Irioka, Takashi; Hirano, Makito; Singh, Gagandeep; Calvo, Alvaro Cobo; Kaida, Kenichi; Morales, Pamela S.; Wirtz, Paul W.; Yamamoto, Tomotaka; Reindl, Markus; Rosenfeld, Myrna R.; Graus, Francesc; Saiz, Albert; Dalmau, Josep

    2014-01-01

    Objective To report the clinical, radiological, and immunological association of demyelinating disorders with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Methods Clinical and radiological analysis of a cohort of 691 patients with anti-NMDAR encephalitis. Determination of antibodies to NMDAR, aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) was performed using brain immunohistochemistry and cell-based assays. Results Twenty-three of 691 patients with anti-NMDAR encephalitis had prominent MRI and/or clinical features of demyelination. Group 1 included 12 patients in whom anti-NMDAR encephalitis was preceded or followed by independent episodes of NMO-spectrum disorder (5 cases, 4 anti-AQP4-positive), or brainstem or multifocal demyelinating syndromes (7 cases, all anti-MOG-positive). Group 2 included 11 patients in whom anti-NMDAR encephalitis occurred simultaneously with MRI and symptoms compatible with demyelination (5 AQ4-positive, 2 MOG-positive). Group 3 (136 controls) included 50 randomly selected patients with typical anti-NMDAR encephalitis, 56 with NMO, and 30 with multiple sclerosis: NMDAR-antibodies were detected only in the 50 anti-NMDAR patients, MOG-antibodies in 3/50 anti-NMDAR and 1/56 NMO patients, and AQP4-antibodies in 48/56 NMO and 1/50 anti-NMDAR patients (p<0.0001 for all comparisons with Groups 1 and 2). Most patients improved with immunotherapy, but compared with anti-NMDAR encephalitis the demyelinating episodes required more intensive therapy and resulted in more residual deficits. Only 1/23 NMDAR patients with signs of demyelination had ovarian teratoma compared with 18/50 anti-NMDAR controls (p=0.011) Interpretation Patients with anti-NMDAR encephalitis may develop concurrent or separate episodes of demyelinating disorders, and conversely patients with NMO or demyelinating disorders with atypical symptoms (e.g., dyskinesias, psychosis) may have anti-NMDAR encephalitis. PMID:24700511

  3. The clinical and genetic features of COPD-asthma overlap syndrome.

    PubMed

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J R; Make, Barry J; Crapo, James D; Silverman, Edwin K; Hersh, Craig P

    2014-08-01

    Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an important but poorly characterised group. The genetic determinants of COPD and asthma overlap have not been studied. The aim of this study was to identify clinical features and genetic risk factors for COPD and asthma overlap. Subjects were current or former smoking non-Hispanic whites or African-Americans with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40 years. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the non-Hispanic whites and African-American populations, and combined these results in a meta-analysis. More females and African-Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema and greater airway wall thickness compared to subjects with COPD alone. The non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap. Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD and asthma overlap is an important syndrome and may require distinct clinical management. PMID:24876173

  4. Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome

    SciTech Connect

    Sawyer, J.R.; North, P.E.; Hassed, S.J.

    1997-04-14

    We describe the cytogenetic evolution of multiple cell lines in the gonadal tissue of a 10-year-old girl with mosaic Ullrich-Turner syndrome (UTS) involving clonal telomeric associations (tas) of the Y chromosome. G-band analysis of all tissues showed at least 2 cell lines; 45,X and 46,X,tas(Y;21)(q12;p13). However, analysis of left gonadal tissue of this patient showed the evolution of 2 additional cell lines, one designated 45,X,tas(Y;21)(q12;p13),-22 and the other 46,X,tas(Y;21)(q12;p13),+tas(Y;14)(q12;p13),-22. Fluorescence in situ hybridization (FISH) analysis of interphase nuclei from uncultured gonadal tissue confirmed the findings of aneuploidy in the left gonadal tissue and extended the findings of aneuploidy to the tissue of the right gonad. The chromosome findings in the gonadal tissue of this patient suggest a preneoplastic karyotype relating to several distinct tumor associations. The clonal evolution of telomeric fusions indicates chromosome instability and suggests the extra copy of the Y chromosome may have resulted from a fusion-related malsegregation. In addition, the extra Y suggests low-level amplification of a putative gonadoblastoma gene, while the loss of chromosome 22 suggests the loss of heterozygosity for genes on chromosome 22. This case demonstrates the utility of the study of gonadal tissue in 45X46,XY UTS patients, and provides evidence that clonal telomeric fusions may, in rare cases, be associated with chromosomal malsegregation and with the subsequent evolution of unstable karyotypes. 27 refs., 3 figs.

  5. Anti-natrium/iodide symporter antibodies and other anti-thyroid antibodies in children with Turner's syndrome.

    PubMed

    Kucharska, Anna M; Czarnocka, Barbara; Demkow, Urszula

    2013-01-01

    Antibodies against the Na/I symporter (anti-NIS ab) have been found in adult patients with autoimmune thyroid diseases. As easily available for the immune system, NIS can play a role in the initial stage of autoimmune thyroid diseases. Children with Turner's syndrome (TS) being at high risk of autoimmune thyroid disease development seem a valuable group for the investigation of the early autoimmune process. The aim of the study was to investigate the presence of anti-NIS ab and its potential clinical significance in TS children. Fifty four girls with TS were examined (age 11.9 ± 2.46 years), and 23 healthy girls with normal thyroid function, free of autoimmune diseases. Anti-NIS antibodies were measured by the in-house ELISA method and the Western blotting. Sera considered positive for anti-NIS ab were used for the iodide uptake bioassay using COS7 cells stably transfected with hNIS. In all patients the thyroid function, antithyroid antibodies presence and thyroid ultrasonography were evaluated. In 20% of the patients a subclinical hypothyroidism was diagnosed and 70.4% had antithyroid antibodies (anti-TPO - 64.8% and Anti-Tg - 24%). Anti-NISab were present in 14.8% girls with TS and in none of the control group. Their presence was unrelated to other antithyroid antibodies titre or patients' age. A positive correlation between the anti-NIS ab presence and the hypothyroidism was found (p < 0.04). Anti-NIS ab-positive sera did not suppress iodine uptake. In conclusion, anti-NIS antibodies were present in 14.8% of children with TS and they were related to the presence of hypothyroidism. PMID:22836628

  6. C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome

    PubMed Central

    Oliveira, Kelly C.; Verreschi, Ieda T.N.; Sugawara, Eduardo K.; Silva, Vanessa C.; Galera, Bianca B.; Galera, Marcial Francis; Bianco, Bianca

    2012-01-01

    Aims: To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls. Methods: This case–control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction–restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p<0.05 was considered to represent a significant difference. Results: The homocysteine levels change was 13.9+3.3 nM in patients with TS and 8.8+3.2 nM in the control group. No significant difference between groups was found (p=0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p=0.063) or allelic (p=0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p<0.0001) and allele (p<0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes—CC and TC—associated with TS (p<0.001 and p=0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk. Conclusion: The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS. PMID:22283972

  7. Aberrant parietal cortex developmental trajectories in girls with Turner syndrome and related visual-spatial cognitive development: a preliminary study.

    PubMed

    Green, Tamar; Chromik, Lindsay C; Mazaika, Paul K; Fierro, Kyle; Raman, Mira M; Lazzeroni, Laura C; Hong, David S; Reiss, Allan L

    2014-09-01

    Turner syndrome (TS) arises from partial or complete absence of the X-chromosome in females. Girls with TS show deficits in visual-spatial skills as well as reduced brain volume and surface area in the parietal cortex which supports these cognitive functions. Thus, measuring the developmental trajectory of the parietal cortex and the associated visual-spatial cognition in TS may provide novel insights into critical brain-behavior associations. In this longitudinal study, we acquired structural MRI data and assessed visual-spatial skills in 16 (age: 8.23 ± 2.5) girls with TS and 13 age-matched controls over two time-points. Gray and white matter volume, surface area and cortical thickness were calculated from surfaced based segmentation of bilateral parietal cortices, and the NEPSY Arrows subtest was used to assess visual-spatial ability. Volumetric and cognitive scalars were modeled to obtain estimates of age-related change. The results show aberrant growth of white matter volume (P = 0.011, corrected) and surface area (P = 0.036, corrected) of the left superior parietal regions during childhood in girls with TS. Other parietal sub-regions were significantly smaller in girls with TS at both time-points but did not show different growth trajectories relative to controls. Furthermore, we found that visual-spatial skills showed a widening deficit for girls with TS relative to controls (P = 0.003). Young girls with TS demonstrate an aberrant trajectory of parietal cortical and cognitive development during childhood. Elucidating aberrant neurodevelopmental trajectories in this population is critical for determining specific stages of brain maturation that are particularly dependent on TS-related genetic and hormonal factors. PMID:25044604

  8. Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

    PubMed

    Sari, Erkan; Bereket, Abdullah; Yeşilkaya, Ediz; Baş, Firdevs; Bundak, Rüveyde; Aydın, Banu Küçükemre; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Unuvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Fidancı, Kürşat; Gül, Davut; Polat, Adem; Acıkel, Cengizhan; Cinaz, Peyami; Darendeliler, Feyza

    2016-04-01

    To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc. PMID:26788866

  9. Novel karyotype in the Ullrich-Turner syndrome - 45,X/46,X,r(X)/46,X,dic(X) - investigated with fluorescence in situ hybridization

    SciTech Connect

    Robson, L.; Jackson, J.; Cowell, C.; Sillence, D.; Smith, A.

    1994-04-15

    A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the {alpha} satellite X centromere probe established the origin of the small ring chromosome. Scanning a large number of cells by interphase FISH showed that the dicentric (X) was the least prevalent cell line. The common breakpoint of Xp11 suggests a sequence of errors as the mechanism whereby these 3 distinct cell lines have arisen. 11 refs., 4 figs., 1 tab.

  10. Hybrid repair of ruptured type B aortic dissection extending into an aberrant right subclavian artery in a patient with Turner's syndrome.

    PubMed

    Hamidian-Jahromi, Alireza; Carroll, Jonathan D; Doucet, Linda D; Zhang, Wayne W

    2013-11-01

    Turner's syndrome (TS) has been documented as the most common cause of aortic dissection in young women. However, little attention from vascular surgery has been paid to these patients. We report the first case of ruptured type B aortic dissection with aberrant right subclavian artery treated successfully with hybrid endovascular and open procedures in a patient with TS. Left carotid to subclavian artery bypass, thoracic endovascular aortic repair, and coil embolization of the aberrant right subclavian and left subclavian arteries were performed in an emergency setting. Literature on epidemiology, causes, and management options of acute aortic dissection in TS patients are reviewed and discussed. PMID:24011806

  11. An evaluation of a novel mask in four patients with obstructive sleep apnea and overlap syndromes.

    PubMed

    Yarahmadi, Alireza; Nader, Nader D; Zadeii, Gino; Porhomayon, Jahan

    2013-01-01

    We present four cases of adults with obstructive sleep apnea in whom positive airway pressure therapy alone failed to provide adequate oxygenation. We have previously reported the use of dual mask for ventilatory support of a patient postoperatively (Porhomayon et al., 2013). Here, we report an evaluation of the dual mask in four patients with overlap syndromes. Application of dual mask provided adequate oxygenation with lower continuous positive airway pressure (CPAP)/bilevel positive airway pressure (BIPAP) pressure levels. PMID:23970903

  12. The Overlap Syndrome of Depression and Delirium in Older Hospitalized Patients

    PubMed Central

    Givens, Jane L.; Jones, Richard N.; Inouye, Sharon K.

    2009-01-01

    Objectives To measure the prevalence, predictors and post-hospitalization outcomes associated with the overlap syndrome of coexisting depression and incident delirium in older hospitalized patients. Design Secondary analysis of prospective cohort data from the control group of the Delirium Prevention Trial. Setting General medical service of an academic medical center. Follow-up interviews at one month and one year post-hospital discharge. Participants Four hundred and fifty nine patients aged 70 and over who were not delirious at hospital admission. Measurements Depressive symptoms assessed at hospital admission using the 15-item Geriatric Depression Scale (cutoff score of 6 used to define depression), daily assessments of incident delirium from admission to discharge using the Confusion Assessment Method. Activities of daily living at admission and one month post-discharge. New nursing home placement and mortality determined at one year. Results Of 459 participants, 23 (5%) had the overlap syndrome, 39 (9%) delirium alone, 121 (26%) depression alone and 276 (60%) neither condition. In adjusted analysis, patients with the overlap syndrome had higher odds of new nursing home placement or death at one year (adjusted odds ratio [AOR] 5.38, 95% confidence interval [CI] = 1.57– 18.38) and one month functional decline (AOR 3.30, 95% CI = 1.14–9.56) compared to patients with neither condition. Conclusion The overlap syndrome of depression and delirium is associated with significant risk of functional decline, institutionalization and death. Efforts to identify, prevent and treat this condition may reduce the risk of adverse outcomes in older hospitalized patients. PMID:19558475

  13. Chronic obstructive pulmonary disease and obstructive sleep apnoea—the overlap syndrome

    PubMed Central

    2016-01-01

    Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnoea (OSA) are highly prevalent disorders and the co-existence of both disorders, termed the overlap syndrome, affects at least 1% of the adult population. Patients with the overlap syndrome typically experience more pronounced nocturnal oxygen desaturation and there is a high prevalence of pulmonary hypertension in such patients. Recent evidence suggests that the prevalence of each disorder together is higher than might be predicted by simple prevalence statistics, although the evidence is not clear-cut in this regard. Sleep itself can have several negative effects in patients with COPD. Sleep quality is diminished with reduced amounts of slow wave and rapid-eye-movement (REM) sleep, which may contribute to daytime symptoms such as fatigue and lethargy. Furthermore, normal physiological adaptations during sleep that result in mild hypoventilation in normal subjects are more pronounced in COPD, which can result in clinically important nocturnal oxygen desaturation. Management of sleep disorders in patients with COPD should address both sleep quality and disordered gas exchange. Non-invasive pressure support is beneficial in selected cases, particularly during acute exacerbations associated with respiratory failure, and is particularly helpful in patients with the overlap syndrome. There is limited evidence of benefit from pressure support in the chronic setting in COPD patients without OSA. PMID:26904264

  14. Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

    SciTech Connect

    1996-07-12

    The gene for this syndrome of X-linked mental retardation with gynecomastia, obesity, speech difficulties, tapering fingers and small feet was mapped between Xp21.1 and Xq22. Linkage to DXS255 at Xp11 was firmly established, with no recombination. Subsequent characterization of numerous microsatellite markers and development of the background genetic map in this region of the X chromosome has enabled significant reduction to the localization of the gene for WTS in the one family so far reported. The new linkage data were obtained as described previously and are presented in Table I. The closest flanking markers are DXS426 at Xp11.3 and DXS990 at Xq21.3. The regional localization is significantly reduced from the previous interval of 66 cM to an interval of 25 cM. The maximum two-point lod score is now 6.07 at AR. 6 refs., 1 tab.

  15. Oocyte cryopreservation for fertility preservation in post-pubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner Syndrome or cancer treatments

    PubMed Central

    Oktay, K; Bedoschi, G

    2014-01-01

    Objective To preliminarily study the feasibility of oocyte cryopreservation in post-pubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner’s Syndrome or cancer treatments. Design Retrospective cohort and review of literature. Setting Academic fertility preservation unit. Participants Three girls diagnosed with Turner syndrome, one girl diagnosed with germ-cell tumor and one girl diagnosed with lymphoblastic leukemia. Interventions Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Main Outcome Measure Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Results Mean AMH, baseline FSH, Estradiol and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4–11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Conclusions Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. PMID:25214440

  16. Overlap of functional heartburn and gastroesophageal reflux disease with irritable bowel syndrome

    PubMed Central

    de Bortoli, Nicola; Martinucci, Irene; Bellini, Massimo; Savarino, Edoardo; Savarino, Vincenzo; Blandizzi, Corrado; Marchi, Santino

    2013-01-01

    Several studies indicate a significant degree of overlap between irritable bowel syndrome (IBS) and gastroesophageal reflux disease (GERD). Likewise, both functional heartburn (FH) and IBS are functional digestive disorders that may occur in the same patients. However, data establishing a solid link between FH and IBS are lacking, mainly because the clinical definition of FH has undergone substantial changes over the years. The available literature on the overlap between GERD or FH and IBS highlights considerable heterogeneity in terms of the criteria and diagnostic procedures used to assess heartburn and IBS. In particular, several epidemiological studies included patients with concomitant IBS and GERD without any attempt to distinguish FH (as defined by the Rome III criteria) from GERD via pathophysiological investigations. Independent of these critical issues, there is preliminary evidence supporting a significant degree of FH-IBS overlap. This underscores the need for studies based on updated diagnostic criteria and accurate pathophysiological classifications, particularly to distinguish FH from GERD. This distinction would represent an essential starting point to achieving a better understanding of pathophysiology in the subclasses of patients with GERD and FH and properly assessing the different degrees of overlap between IBS and the subcategories of heartburn.The present review article intends to appraise and critically discuss current evidence supporting a possible concomitance of GERD or FH with IBS in the same patients and to highlight the pathophysiological relationships between these disorders. PMID:24124323

  17. Respiratory mechanics and ventilatory control in overlap syndrome and obesity hypoventilation

    PubMed Central

    2013-01-01

    The overlap syndrome of obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD), in addition to obesity hypoventilation syndrome, represents growing health concerns, owing to the worldwide COPD and obesity epidemics and related co-morbidities. These disorders constitute the end points of a spectrum with distinct yet interrelated mechanisms that lead to a considerable health burden. The coexistence OSA and COPD seems to occur by chance, but the combination can contribute to worsened symptoms and oxygen desaturation at night, leading to disrupted sleep architecture and decreased sleep quality. Alveolar hypoventilation, ventilation-perfusion mismatch and intermittent hypercapnic events resulting from apneas and hypopneas contribute to the final clinical picture, which is quite different from the “usual” COPD. Obesity hypoventilation has emerged as a relatively common cause of chronic hypercapnic respiratory failure. Its pathophysiology results from complex interactions, among which are respiratory mechanics, ventilatory control, sleep-disordered breathing and neurohormonal disturbances, such as leptin resistance, each of which contributes to varying degrees in individual patients to the development of obesity hypoventilation. This respiratory embarrassment takes place when compensatory mechanisms like increased drive cannot be maintained or become overwhelmed. Although a unifying concept for the pathogenesis of both disorders is lacking, it seems that these patients are in a vicious cycle. This review outlines the major pathophysiological mechanisms believed to contribute to the development of these specific clinical entities. Knowledge of shared mechanisms in the overlap syndrome and obesity hypoventilation may help to identify these patients and guide therapy. PMID:24256627

  18. Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

    PubMed

    Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; Bowers, Naomi; Clayton-Smith, Jill; Newman, William G

    2015-12-01

    Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure, and a predisposition to allergies and eczema. There have been more than 150 individuals reported to have this diagnosis, but no unifying genetic alteration has been identified indicating genetic heterogeneity. We report on a pair of monozygotic twins diagnosed clinically with Dubowitz syndrome by Professor Dubowitz over 30 years ago and identified to have a de novo heterozygous 3.2-Mb deletion at 19q13.11q13.12. Exome sequencing did not identify either a putative pathogenic variant on the trans allele supporting recessive inheritance or any other causative sequence variants. Comparison of the phenotype in our cases shows considerable overlap with the 19q13.11 microdeletion syndrome, suggesting that a subset of individuals diagnosed with Dubowitz syndrome may be due to deletions at 19q13. Our finding further reinforces the genetic and phenotypic heterogeneity of Dubowitz syndrome. PMID:26377242

  19. Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome: Nothing New Under the Sun.

    PubMed

    Putcha, Nirupama; Wise, Robert A

    2016-08-01

    The debate about whether asthma and chronic obstructive pulmonary disease (COPD) are distinct clinical syndromes is not new; there is heightened interest in understanding the group of individuals with obstructive lung disease who seem to have elements of both conditions because recent studies have demonstrated increased risk for respiratory events and exacerbations. We describe the clinical characteristics of this subtype of disease and suggest 4 working definitions of individuals who would fall into the asthma-COPD overlap category. Understanding the mechanisms underlying these subtypes will hopefully lead into a better understanding of therapeutic strategies that can target specific pathobiologic pathways. PMID:27401623

  20. Two pregnancies in a 45,X/46,Xr(X)/46,XX Turner mosaic patient. A case report.

    PubMed

    Taga, M; Minaguchi, H; Saotome, K

    1996-01-01

    Turner's syndrome associated with an X ring chromosome, r (X), is rare and there has been no report on pregnancy in Turner's syndrome with 45,X/46,Xr (X)/46,XX mosaicism. A patient with this karyotype who lacked the clinical manifestation of characteristic phenotype of Turner's syndrome except for short stature had two pregnancies. This is the first case of successful pregnancy in patient with X,Xr(X),XX mosaic Turner's syndrome. PMID:8938476

  1. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome

    SciTech Connect

    Knoll, J.H.M.; Asamoah, A.; Wagstaff, J.

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome. 17 refs., 3 figs., 1 tab.

  2. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Zerres, K; Gencik, M; Spengler, S; Eggermann, T

    2015-01-01

    Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions. PMID:25339544

  3. Turner Syndrome (For Parents)

    MedlinePlus

    ... girls do have problems with body image or self-esteem and some also might be hyperactive. Despite these ... help build a more positive body image and self-esteem. Encourage participation in activities in which height isn' ...

  4. Turner Syndrome (For Teens)

    MedlinePlus

    ... girls may have problems with body image or self-esteem. People with TS are all different. Some may ... volunteer work. Helping other people can boost your self-esteem and your confidence, too. Consider talking to a ...

  5. Learning about Turner Syndrome

    MedlinePlus

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  6. Turner Syndrome: Other FAQs

    MedlinePlus

    ... Overview Condition Information What are common symptoms? How many people are affected? What causes it? How is it ... Overview Condition Information What are common symptoms? How many people are affected? What causes it? How is it ...

  7. A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

    PubMed Central

    Tatli, Ufuk; Yazicioglu, Iffet; Evlice, Ahmet; Oztunc, Haluk

    2013-01-01

    Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail. PMID:23807938

  8. Therapeutic approaches to asthma-chronic obstructive pulmonary disease overlap syndromes.

    PubMed

    Barnes, Peter J

    2015-09-01

    The recognition that there are some patients with features of asthma and chronic obstructive pulmonary disease (COPD) has highlighted the need to develop more specific treatments for these clinical phenotypes. Some patients with COPD have predominantly eosinophilic inflammation and might respond to high doses of inhaled corticosteroids and newly developed specific antieosinophil therapies, including blocking antibodies against IL-5, IL-13, IL-33, and thymic stromal lymphopoietin, as well as oral chemoattractant receptor-homologous molecule expressed on TH2 cells antagonists. Other patients have severe asthma or are asthmatic patients who smoke with features of COPD-induced inflammation and might benefit from treatments targeting neutrophils, including macrolides, CXCR2 antagonists, phosphodiesterase 4 inhibitors, p38 mitogen-activating protein kinase inhibitors, and antibodies against IL-1 and IL-17. Other patients appear to have largely fixed obstruction with little inflammation and might respond to long-acting bronchodilators, including long-acting muscarinic antagonists, to reduce hyperinflation. Highly selected patients with severe asthma might benefit from bronchial thermoplasty. Some patients with overlap syndromes can be conveniently treated with triple fixed-dose combination inhaler therapy with an inhaled corticosteroid, long-acting β2-agonist, and long-acting muscarinic antagonist, several of which are now in development. Corticosteroid resistance is a feature of asthma-COPD overlap syndrome, and understanding the various molecular mechanisms of this resistance has identified novel therapeutic targets and presented the prospect of therapies that can restore corticosteroid responsiveness. PMID:26343937

  9. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

    PubMed Central

    Fernandez, Thomas V; Sanders, Stephan J; Yurkiewicz, Ilana R; Ercan-Sencicek, A. Gulhan; Kim, Young-Shin; Fishman, Daniel O; Raubeson, Melanie J; Song, Youeun; Yasuno, Katsuhito; Ho, Winson SC; Bilguvar, Kaya; Glessner, Joseph; Chu, Su Hee; Leckman, James F.; King, Robert A; Gilbert, Donald L; Heiman, Gary A; Tischfield, Jay A; Hoekstra, Pieter J; Devlin, Bernie; Hakonarson, Hakon; Mane, Shrikant M; Günel, Murat; State, Matthew W

    2012-01-01

    Background Studies of copy number variation (CNV) have successfully characterized loci and molecular pathways involved in a range of neuropsychiatric conditions. We conducted an analysis of rare CNVs in Tourette Syndrome (TS) to identify novel risk regions and relevant molecular pathways, evaluate the burden of structural variation in cases versus controls, and to assess the overlap of identified variations with those implicated in other neuropsychiatric syndromes. Methods We conducted a case-control study of 460 individuals with TS, including 148 parent-child trios and 1131 controls. CNV analysis was undertaken using 370K to 1M probe arrays, and genome-wide genotyping data was used to match cases and controls for ancestry. Transmitted and de novo CNVs present in < 1% of the population were evaluated. Results While there was no significant increase in the number of de novo or transmitted rare CNVs in cases versus controls, pathway analysis using multiple algorithms showed enrichment of genes within histamine receptor (H1R and H2R) signaling pathways (p=5.8×10-4-1.6×10-2) as well as “axon guidance”, “cell adhesion”, “nervous system development” and “synaptic structure and function” processes. Genes mapping within rare CNVs in TS showed significant overlap with those previously identified in autism spectrum disorders (ASD), but not intellectual disability or schizophrenia. Three large, likely-pathogenic, de novo events were identified, including one disrupting multiple gamma-Aminobutyric acid (GABA) receptor genes. Conclusions We identify further evidence supporting recent findings regarding the involvement of histaminergic and GABAergic mechanisms in the etiology of TS and show an overlap of rare CNVs in TS and ASD. PMID:22169095

  10. Age-related perception of stature, acceptance of therapy, and psychosocial functioning in human growth hormone-treated girls with Turner's syndrome.

    PubMed

    Lagrou, K; Xhrouet-Heinrichs, D; Heinrichs, C; Craen, M; Chanoine, J P; Malvaux, P; Bourguignon, J P

    1998-05-01

    This study evaluated the perception of stature, acceptance of therapy, and psychosocial functioning in relation to age at onset and time on treatment during 2 yr of GH therapy in 31 girls with Turner's syndrome grouped by age (group A: 3.7-5.8 yr, n = 9; group B: 7.2-11.8 yr, n = 13; group C: 12.5-16.4 yr, n = 9). The growth response after 2 yr was significant in the 3 groups when calculated in terms of growth norms for untreated Turner girls (mean increase in height SD score: +1.2, +1.5, and +1.1, respectively). The effect was less marked in terms of growth norms for normal girls, particularly in group B (+0.5 SD score). Height was perceived as a problem by most patients, except in the youngest girls at the start of treatment (group A) and in the majority of the adolescents after 2 yr of GH therapy (group C), without evidence of relation to growth response during therapy. The GH injections were fairly well accepted by all patients, except those younger than 6 yr. In all patients, expected adult height was unrealistic and became more realistic with age, whereas no consistent changes were observed in relation to growth response to GH therapy. The Child Behavior Checklist revealed elevated mean scores at the behavioral subscales of attention problems (group A and B), social problems, withdrawal, and anxiety-depression (most obviously in group B). No significant changes were seen during GH therapy. In group C, an elevated mean social problem score at the Youth Self Report and a low mean social self-esteem score at the Self-Esteem Inventory were observed before therapy and showed a significant improvement during 2 yr of GH treatment. These results, however, might be biased due to an increase in social desirability during therapy. We conclude that the perception of height, acceptance of GH therapy, and psychosocial functioning in girls with Turner's syndrome show important differences between age groups, with only slight changes observed during GH therapy. PMID:9589645

  11. Are depression and frailty overlapping syndromes in mid- and late-life? A latent variable analysis

    PubMed Central

    Mezuk, Briana; Lohman, Matt; Dumenci, Levent; Lapane, Kate L.

    2012-01-01

    Background Depression and frailty both predict disability and morbidity in later life. However, it is unclear to what extent these common geriatric syndromes represent overlapping constructs. Objective To examine the joint relationship between the constructs of depression and frailty. Methods Data come from 2004/5 wave of the Baltimore Epidemiologic Catchment Area Study and analysis is limited to participants aged 40 and older with complete data on frailty and depression indicators (N = 683). Depression was measured using the Diagnostic Interview Schedule and frailty was indexed by modified Fried criteria. A series of confirmatory latent class analyses (LCA) were used to assess the degree to which depression and frailty syndromes identify the same populations. A latent Kappa coefficient (Кl) was also estimated between the constructs. Results Confirmatory LCA indicated that depression and frailty represent distinct syndromes rather than a single construct. The joint modeling of the two constructs supported a three class solution for depression and two class solution for frailty, with 2.9% categorized as severe depression, 19.4% as mild depression, and 77.7% as not depressed, and 21.1% categorized as frail and 78.9% as not frail. The chance-corrected agreement statistic indicated moderate correspondence between the depression and frailty constructs (Кl: 66, 95% CI: 0.58 – 0.74). Conclusions Results suggest that depression and frailty are interrelated concepts, yet their operational criteria identify substantively overlapping subpopulations. These findings have implications for understanding factors that contribute to the etiology and prognosis of depression and frailty in later life. PMID:23567406

  12. Systemic Lupus Erythematosus and Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Syndrome in Patients With Biopsy-Proven Glomerulonephritis

    PubMed Central

    Jarrot, Pierre-Andre; Chiche, Laurent; Hervier, Baptiste; Daniel, Laurent; Vuiblet, Vincent; Bardin, Nathalie; Bertin, Daniel; Terrier, Benjamin; Amoura, Zahir; Andrés, Emmanuel; Rondeau, Eric; Hamidou, Mohamed; Pennaforte, Jean-Loup; Halfon, Philippe; Daugas, Eric; Dussol, Bertrand; Puéchal, Xavier; Kaplanski, Gilles; Jourde-Chiche, Noemie

    2016-01-01

    Abstract The aim of the study was to report the clinical, biological, and pathological characteristics of patients with glomerulonephritis (GN) secondary to systemic lupus erythematosus (SLE)/antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) overlap syndrome. A nationwide survey was conducted to identify cases of SLE/AAV overlap syndrome. Data were collected from SLE and AAV French research groups. Inclusion criteria were diagnosis of both SLE and AAV according to international classification criteria and biopsy-proven GN between 1995 and 2014. Additional cases were identified through a systematic literature review. A cohort of consecutive biopsy-proven GN was used to study the prevalence of overlapping antibodies and/or overlap syndrome. The national survey identified 8 cases of SLE/AAV overlap syndrome. All patients were female; median age was 40 years. AAV occurred before SLE (n = 3), after (n = 3), or concomitantly (n = 2). Six patients had rapidly progressive GN and 3/8 had alveolar hemorrhage. All patients had antinuclear antibodies (ANA); 7/8 had p-ANCA antimyeloperoxidase (MPO) antibodies. Renal biopsies showed lupus nephritis (LN) or pauci-immune GN. Remission was obtained in 4/8 patients. A literature review identified 31 additional cases with a similarly severe presentation. In the GN cohort, ANCA positivity was found in 30% of LN, ANA positivity in 52% of pauci-immune GN, with no correlation with pathological findings. The estimated prevalence for SLE/AAV overlap syndrome was 2/101 (2%). In patients with GN, SLE/AAV overlap syndrome may occur but with a low prevalence. Most patients have an aggressive renal presentation, with usually both ANA and anti-MPO antibodies. Further studies are needed to assess shared pathogenesis and therapeutic options. PMID:27258503

  13. Systemic Lupus Erythematosus and Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Syndrome in Patients With Biopsy-Proven Glomerulonephritis.

    PubMed

    Jarrot, Pierre-Andre; Chiche, Laurent; Hervier, Baptiste; Daniel, Laurent; Vuiblet, Vincent; Bardin, Nathalie; Bertin, Daniel; Terrier, Benjamin; Amoura, Zahir; Andrés, Emmanuel; Rondeau, Eric; Hamidou, Mohamed; Pennaforte, Jean-Loup; Halfon, Philippe; Daugas, Eric; Dussol, Bertrand; Puéchal, Xavier; Kaplanski, Gilles; Jourde-Chiche, Noemie

    2016-05-01

    The aim of the study was to report the clinical, biological, and pathological characteristics of patients with glomerulonephritis (GN) secondary to systemic lupus erythematosus (SLE)/antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) overlap syndrome.A nationwide survey was conducted to identify cases of SLE/AAV overlap syndrome. Data were collected from SLE and AAV French research groups. Inclusion criteria were diagnosis of both SLE and AAV according to international classification criteria and biopsy-proven GN between 1995 and 2014. Additional cases were identified through a systematic literature review. A cohort of consecutive biopsy-proven GN was used to study the prevalence of overlapping antibodies and/or overlap syndrome.The national survey identified 8 cases of SLE/AAV overlap syndrome. All patients were female; median age was 40 years. AAV occurred before SLE (n = 3), after (n = 3), or concomitantly (n = 2). Six patients had rapidly progressive GN and 3/8 had alveolar hemorrhage. All patients had antinuclear antibodies (ANA); 7/8 had p-ANCA antimyeloperoxidase (MPO) antibodies. Renal biopsies showed lupus nephritis (LN) or pauci-immune GN. Remission was obtained in 4/8 patients. A literature review identified 31 additional cases with a similarly severe presentation. In the GN cohort, ANCA positivity was found in 30% of LN, ANA positivity in 52% of pauci-immune GN, with no correlation with pathological findings. The estimated prevalence for SLE/AAV overlap syndrome was 2/101 (2%).In patients with GN, SLE/AAV overlap syndrome may occur but with a low prevalence. Most patients have an aggressive renal presentation, with usually both ANA and anti-MPO antibodies. Further studies are needed to assess shared pathogenesis and therapeutic options. PMID:27258503

  14. The asthma–COPD overlap syndrome: do we really need another syndrome in the already complex matrix of airway disease?

    PubMed Central

    Kostikas, Konstantinos; Clemens, Andreas; Patalano, Francesco

    2016-01-01

    The term asthma–COPD overlap syndrome (ACOS) is one of multiple terms used to describe patients with characteristics of both COPD and asthma, representing ~20% of patients with obstructive airway diseases. The recognition of both sets of morbidities in patients is important to guide practical treatment decisions. It is widely recognized that patients with COPD and coexisting asthma present with a higher disease burden, despite the conceptual expectation that the “reversible” or “treatable” component of asthma would allow for more effective management and better outcomes. However, subcategorization into terms such as ACOS is complicated by the vast spectrum of heterogeneity that is encapsulated by asthma and COPD, resulting in different clinical clusters. In this review, we discuss the possibility that these different clusters are suboptimally described by the umbrella term “ACOS”, as this additional categorization may lead to clinical confusion and potential inappropriate use of resources. We suggest that a more clinically relevant approach would be to recognize the extreme variability and the numerous phenotypes encompassed within obstructive airway diseases, with various degrees of overlapping in individual patients. In addition, we discuss some of the evidence to be considered when making practical decisions on the treatment of patients with overlapping characteristics between COPD and asthma, as well as the potential options for phenotype and biomarker-driven management of airway disease with the aim of providing more personalized treatment for patients. Finally, we highlight the need for more evidence in patients with overlapping disease characteristics and to facilitate better characterization of potential treatment responders. PMID:27366057

  15. Asthma and chronic obstructive pulmonary disease overlap syndrome (ACOS): structured literature review and physician insights

    PubMed Central

    Ding, B.; Enstone, A

    2016-01-01

    ABSTRACT Objectives: To understand the key characteristics of Asthma and Chronic Obstructive Pulmonary Disease Overlap Syndrome (ACOS) and to identify evidence gaps relating to the identification, treatment and management of ACOS patients. Methods: A structured literature review and 1-hour telephone interviews with specialist respiratory physicians were conducted (n=10; China, France, Germany, Japan and the USA). Results: All 10 physicians used the term ACOS in clinical practice. ACOS was not clearly defined in the literature. Prevalence of ACOS among adult patients with COPD or asthma ranged from 12–55%. ACOS patients had severe disease, with increased exacerbations and hospitalisations compared to some asthma and COPD patients. ACOS represented a clinical challenge due to a lack of evidence-based guidelines distinguishing between asthma, COPD and ACOS. Published data quantifying ACOS costs were limited. Conclusions: There is a need for consensus evidence-based guidance to facilitate earlier diagnosis and to optimise the management of ACOS patients. PMID:26789845

  16. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

    PubMed

    Liu, Kaiming; Zhao, Hui; Ji, Kunqian; Yan, Chuanzhu

    2014-03-01

    We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome. PMID:24338029

  17. Development of systemic sclerosis in patients with autoimmune hepatitis: an emerging overlap syndrome

    PubMed Central

    Assandri, Roberto; Monari, Marta; Montanelli, Alessandro

    2016-01-01

    Aim: We described two case reports of AIH/SSc overlap syndrome and reviewed literatures regarding this issue. Background: AIH is a chronic hepatitis of unknown aetiology characterized by continuing hepatocellular necrosis and inflammation. AIH overlap syndromes have been reported with other autoimmune diseases. Patients and methods: According to the classification criteria for SSc, we conducted a retrospective chart review of 35 cases with biopsy-proven AIH over the past 5 years at our institution. We reviewed the MEDLINE database using the appropriate key-words. Results: A chart review of 35 cases (M/F ratio 1:2, mean age 47.6±10.3 years) revealed nine patients (9/35, 25.7%) with CTD (four males and three females with a mean age of 45.1±8.4 years). All patients had ANA. Four patients were SSA/Ro positive UCTD (1/35, 2.85%), and six patients developed SLE (6/35, 17.1%). Only two female patients (2/35, 5.7%) with specific SSc AAb developed a systemic sclerosis. We described a patient with AIH who was diagnosed with diffuse systemic sclerosis-sine scleroderma with positive anti-centromere B and SSA/Ro52 KDa antibodies. We also reported a patient with AIH who was diagnosed limited SSc with contemporary presence of anti-centromere A and anti-RNA polymerase III antibody. Conclusion: We suggest that SSc may be considered to be one of the manifestations associated with AIH. Patients with AIH may have an increased risk to develop SSc and should be followed, especially when Raynaud phenomenon was found. PMID:27458514

  18. Disease progression in systemic sclerosis-overlap syndrome is significantly different from limited and diffuse cutaneous systemic sclerosis

    PubMed Central

    Moinzadeh, Pia; Aberer, Elisabeth; Ahmadi-Simab, Keihan; Blank, Norbert; Distler, Joerg H W; Fierlbeck, Gerhard; Genth, Ekkehard; Guenther, Claudia; Hein, Ruediger; Henes, Joerg; Herich, Lena; Herrgott, Ilka; Koetter, Ina; Kreuter, Alexander; Krieg, Thomas; Kuhr, Kathrin; Lorenz, Hanns-Martin; Meier, Florian; Melchers, Inga; Mensing, Hartwig; Mueller-Ladner, Ulf; Pfeiffer, Christiane; Riemekasten, Gabriela; Sárdy, Miklós; Schmalzing, Marc; Sunderkoetter, Cord; Susok, Laura; Tarner, Ingo H; Vaith, Peter; Worm, Margitta; Wozel, Gottfried; Zeidler, Gabriele; Hunzelmann, Nicolas; Ahrazoglu, Nil Mona

    2015-01-01

    Background Systemic sclerosis (SSc)-overlap syndromes are a very heterogeneous and remarkable subgroup of SSc-patients, who present at least two connective tissue diseases (CTD) at the same time, usually with a specific autoantibody status. Objectives To determine whether patients, classified as overlap syndromes, show a disease course different from patients with limited SSc (lcSSc) or diffuse cutaneous SSc (dcSSc). Methods The data of 3240 prospectively included patients, registered in the database of the German Network for Systemic Scleroderma and followed between 2003 and 2013, were analysed. Results Among 3240 registered patients, 10% were diagnosed as SSc-overlap syndrome. Of these, 82.5% were female. SSc-overlap patients had a mean age of 48±1.2 years and carried significantly more often ‘other antibodies’ (68.0%; p<0.0001), including anti-U1RNP, -PmScl, -Ro, -La, as well as anti-Jo-1 and -Ku antibodies. These patients developed musculoskeletal involvement earlier and more frequently (62.5%) than patients diagnosed as lcSSc (32.2%) or dcSSc (43.3%) (p<0.0001). The onset of lung fibrosis and heart involvement in SSc-overlap patients was significantly earlier than in patients with lcSSc and occurred later than in patients with dcSSc. Oesophagus, kidney and PH progression was similar to lcSSc patients, whereas dcSSc patients had a significantly earlier onset. Conclusions These data support the concept that SSc-overlap syndromes should be regarded as a separate SSc subset, distinct from lcSSc and dcSSc, due to a different progression of the disease, different proportional distribution of specific autoantibodies, and of different organ involvement. PMID:24389298

  19. The Overlap between Irritable Bowel Syndrome and Non-Celiac Gluten Sensitivity: A Clinical Dilemma

    PubMed Central

    Makharia, Archita; Catassi, Carlo; Makharia, Govind K.

    2015-01-01

    The spectrum of gluten-related disorders has widened in recent times and includes celiac disease, non-celiac gluten sensitivity, and wheat allergy. The complex of symptoms associated with these diseases, such as diarrhea, constipation or abdominal pain may overlap for the gluten related diseases, and furthermore they can be similar to those caused by various other intestinal diseases, such as irritable bowel syndrome (IBS). The mechanisms underlying symptom generation are diverse for all these diseases. Some patients with celiac disease may remain asymptomatic or have only mild gastrointestinal symptoms and thus may qualify for the diagnosis of IBS in the general clinical practice. Similarly, the overlap of symptoms between IBS and non-celiac gluten sensitivity (NCGS) often creates a dilemma for clinicians. While the treatment of NCGS is exclusion of gluten from the diet, some, but not all, of the patients with IBS also improve on a gluten-free diet. Both IBS and NCGS are common in the general population and both can coexist with each other independently without necessarily sharing a common pathophysiological basis. Although the pathogenesis of NCGS is not well understood, it is likely to be heterogeneous with possible contributing factors such as low-grade intestinal inflammation, increased intestinal barrier function and changes in the intestinal microbiota. Innate immunity may also play a pivotal role. One possible inducer of innate immune response has recently been reported to be amylase-trypsin inhibitor, a protein present in wheat endosperm and the source of flour, along with the gluten proteins. PMID:26690475

  20. Overlapping gastroesophageal reflux disease and irritable bowel syndrome: Increased dysfunctional symptoms

    PubMed Central

    Yarandi, Shadi Sadeghi; Nasseri-Moghaddam, Siavosh; Mostajabi, Pardis; Malekzadeh, Reza

    2010-01-01

    AIM: To investigate the association of gastroesophageal reflux disease (GERD) and irritable bowel syndrome (IBS) in Iranian patients and examine the prevalence of functional symptoms of the gastrointestinal tract in patients presenting with either IBS, GERD or both. METHODS: Six thousand four hundred and seventy six patients presented to the Gastro-intestinal (GI) clinic with symptoms of functional dysfunction of GI tract, 1419 patients (62.0% women, 38.0% men; mean age: 37.4 ± 11.5 years) met Rome II or Rome III criteria (depending on the year of diagnosis) for IBS. 2658 patients were diagnosed with GERD based on clinical presentation and endoscopic findings. We assessed other functional symptoms (epigastric pain, nausea, vomiting, belching, constipation and diarrhea) in patients suffering from GERD, IBS or both. RESULTS: Among IBS subjects, 63.6% (69.0% women, 31.0% men; mean age: 36.4 ± 10.3 years) also had GERD, whereas 34.7% of the non-IBS patients had GERD [odds ratio (OR) = 3.2, 95% confidence interval (CI): 2.9-3.7, P < 0.0001]. Among patients with GERD, 33.9% of subjects met Rome criteria compared to 13.5% of non-GERD patients (OR = 3.6, 95% CI: 3.1-4.3, P < 0.0001). Prevalence of all functional symptoms was higher in overlapping GERD and IBS subjects, when compared with their prevalence in the IBS subjects without GERD or GERD only subjects (P < 0.05). CONCLUSION: This finding shows that in overlapping GERD and IBS, other functional abnormalities of the GI tract are also highly prevalent, suggesting a common underlying dysfunction. PMID:20222167

  1. The Overlap between Irritable Bowel Syndrome and Non-Celiac Gluten Sensitivity: A Clinical Dilemma.

    PubMed

    Makharia, Archita; Catassi, Carlo; Makharia, Govind K

    2015-12-01

    The spectrum of gluten-related disorders has widened in recent times and includes celiac disease, non-celiac gluten sensitivity, and wheat allergy. The complex of symptoms associated with these diseases, such as diarrhea, constipation or abdominal pain may overlap for the gluten related diseases, and furthermore they can be similar to those caused by various other intestinal diseases, such as irritable bowel syndrome (IBS). The mechanisms underlying symptom generation are diverse for all these diseases. Some patients with celiac disease may remain asymptomatic or have only mild gastrointestinal symptoms and thus may qualify for the diagnosis of IBS in the general clinical practice. Similarly, the overlap of symptoms between IBS and non-celiac gluten sensitivity (NCGS) often creates a dilemma for clinicians. While the treatment of NCGS is exclusion of gluten from the diet, some, but not all, of the patients with IBS also improve on a gluten-free diet. Both IBS and NCGS are common in the general population and both can coexist with each other independently without necessarily sharing a common pathophysiological basis. Although the pathogenesis of NCGS is not well understood, it is likely to be heterogeneous with possible contributing factors such as low-grade intestinal inflammation, increased intestinal barrier function and changes in the intestinal microbiota. Innate immunity may also play a pivotal role. One possible inducer of innate immune response has recently been reported to be amylase-trypsin inhibitor, a protein present in wheat endosperm and the source of flour, along with the gluten proteins. PMID:26690475

  2. Dysthymia: clinical picture, extent of overlap with chronic fatigue syndrome, neuropharmacological considerations, and new therapeutic vistas.

    PubMed

    Brunello, N; Akiskal, H; Boyer, P; Gessa, G L; Howland, R H; Langer, S Z; Mendlewicz, J; Paes de Souza, M; Placidi, G F; Racagni, G; Wessely, S

    1999-01-01

    Dysthymia, as defined in the American Psychiatric Association and International Classification of Mental Disorders, refers to a prevalent form of subthreshold depressive pathology with gloominess, anhedonia, low drive and energy, low self-esteem and pessimistic outlook. Although comorbidity with panic, social phobic, and alcohol use disorders has been described, the most significant association is with major depressive episodes. Family history is loaded with affective, including bipolar, disorders. The latter finding explains why dysthymia, especially when onset is in childhood, can lead to hypomanic switches, both spontaneously and upon pharmacologic challenge in as many as 30%. Indeed, antidepressants from different classes -tricyclic antidepressants (TCAs), monoamine oxidase inhibitors (MAOIs), reversible inhibitors of monoamine oxidase A (RIMAs), selective serotonin-reuptake inhibitors (SSRIs) and, more recently, amisulpride, and spanning noradrenergic, serotonergic as well as dopaminergic mechanisms of action - have been shown to be effective against dysthymia in an average of 65% of cases. This is a promising development because social and characterologic disturbances so pervasive in dysthymia often, though not always, recede with continued pharmacotherapy beyond acute treatment. Despite symptomatic overlap of dysthymia with chronic fatigue syndrome - especially with respect to the cluster of symptoms consisting of low drive, lethargy, lassitude and poor concentration - neither the psychopathologic status, nor the pharmacologic response profile of the latter syndrome is presently understood. Chronic fatigue today is where dysthymia was two decades ago. We submit that the basic science - clinical paradigm that has proven so successful in dysthymia could, before too long, crack down the conundrum of chronic fatigue as well. At a more practical level, we raise the possibility that a subgroup within the chronic fatigue group represents a variant of dysthymia

  3. Asthma and COPD Overlap Syndrome (ACOS): A Systematic Review and Meta Analysis

    PubMed Central

    Alshabanat, A.

    2015-01-01

    Background The combination of asthma and chronic obstructive pulmonary disease (COPD), or ACOS is a recently defined syndrome. The epidemiology of the condition is poorly described and previous research has suggested ACOS is associated with worse outcomes than either condition alone. We therefore decided to complete a systematic review of the published literature. Methods This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta- Analyses guidelines. A structured search was performed in the PubMed, Embase, and Medline databases up to Feb 2015 to identify studies reporting incidence, prevalence, health care utilization, morbidity, or mortality in COPD and asthma. Results A total of 19 studies were included in the present study. The pooled prevalence of overlap among COPD was 27% (95% CI: 0.16–0.38, p<0.0001) and 28% (95% CI: 0.09–0.47, p = 0.0032) in the population and hospital-based studies, respectively. We found no significant difference between ACOS and COPD in terms of gender, smoking status, lung function and 6mWD. However, in comparison to subject with only COPD, ACOS subjects were significantly younger, had higher BMI, healthcare utilization, and lower HRQoL. Conclusion ACOS is a common condition that exists in a substantial proportion of subjects with COPD. ACOS represents a distinct clinical phenotype with more frequent exacerbations, hospitalization, worse health-related quality of life, and higher healthcare costs than either disease alone. There is a critical need to better define the management and treatment of this syndrome. PMID:26336076

  4. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    SciTech Connect

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S.

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  5. The asthma–COPD overlap syndrome: how is it defined and what are its clinical implications?

    PubMed Central

    van den Berge, Maarten; Aalbers, René

    2016-01-01

    It is increasingly recognized that both asthma and chronic obstructive pulmonary disease (COPD) are heterogeneous diseases with a large inter-individual variability with respect to their clinical expression, disease progression, and responsiveness to the available treatments. The introduction of asthma–COPD overlap syndrome (ACOS) may lead to a better clinical characterization and improved treatment of patients with obstructive airways disease. However, it is still in its early phase and several improvements will have to be made. First, a clear definition of ACOS and preferably also its sub-phenotypes, eg, asthma–ACOS and COPD–ACOS, is urgently needed. That would also allow researchers to design clinical studies in well-defined patients. The latter is important since the interpretation of clinical studies performed so far is hampered by the use of many different definitions of ACOS. Second, future studies are needed to investigate the role of state-of-the-art techniques such as computed tomography, genetics, and genomics in the phenotyping of patients with obstructive airways disease, ie, asthma, COPD, and ACOS. Third, longitudinal studies are now needed to better define the clinical implications of ACOS with respect to the long-term outcome and treatment of ACOS and its sub-phenotypes compared to only asthma or COPD. PMID:26929652

  6. Asthma, COPD and overlap syndrome: a longitudinal study in young European adults.

    PubMed

    de Marco, Roberto; Marcon, Alessandro; Rossi, Andrea; Antó, Josep M; Cerveri, Isa; Gislason, Thorarinn; Heinrich, Joachim; Janson, Christer; Jarvis, Deborah; Kuenzli, Nino; Leynaert, Bénédicte; Probst-Hensch, Nicole; Svanes, Cecilie; Wjst, Matthias; Burney, Peter

    2015-09-01

    We compared risk factors and clinical characteristics, 9-year lung function change and hospitalisation risk across subjects with the asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS), asthma or COPD alone, or none of these diseases.Participants in the European Community Respiratory Health Survey in 1991-1993 (aged 20-44 years) and 1999-2001 were included. Chronic airflow obstruction was defined as pre-bronchodilator forced expiratory volume in 1 s (FEV1)/forced vital capacity

  7. Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

    PubMed Central

    Cetin, Z; Mendilcioglu, I; Yakut, S; Berker-Karauzum, S; Karaman, B; Luleci, G

    2011-01-01

    We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq). PMID:24052704

  8. The proportion of diploid 46,XX cells increases with time in women with Turner syndrome--a 10-year follow-up study.

    PubMed

    Denes, Anna-Maria; Landin-Wilhelmsen, Kerstin; Wettergren, Yvonne; Bryman, Inger; Hanson, Charles

    2015-02-01

    In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean±standard deviation: 42.0±11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7±13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS. PMID:25587646

  9. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome.

    PubMed

    Aso, Keiko; Koto, Shinobu; Higuchi, Asako; Ariyasu, Daisuke; Izawa, Masako; Miyamoto Igaki, Junko; Hasegawa, Yukihiro

    2010-01-01

    The gonadal function of patients with Turner syndrome (TS) is variable. Individuals with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX are more likely to experience spontaneous menarche compared with other karyotypes. Prepubertal gonadotropins of TS patients with spontaneous menarche are reportedly normal or significantly lower than those of patients with induced menarche. The present study investigated an index of spontaneous and cyclical menstruation at 10-12 years old in TS. Subjects comprised 50 patients with TS, divided into three groups: Group A (n=7), with spontaneous menarche before 16 years old and regular menstruation for at least 1 year and 6 months; Group B (n=6), with irregular menstruation since menarche leading to secondary amenorrhea despite spontaneous menarche before 16 years old; and Group C (n=37), without spontaneous breast budding before 14 years old or without spontaneous menarche before 16 years old. Karyotype, LH and FSH concentrations at 10 and 12 years old were analyzed retrospectively. Spontaneous and cyclical menstruation was more frequently observed in TS with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX than in TS with other karyotypes, as previously described. Spontaneous and cyclical menstruation in TS was observed when serum FSH level was <10 mIU/mL at 12 years old, suggesting this FSH level as an index of spontaneous and cyclical menstruation in TS. PMID:20798475

  10. Lupus erythematosus and lichen planus overlap syndrome:a case report with a rapid response to topical corticosteroid therapy

    PubMed Central

    Demirci, Gulsen Tukenmez; Altunay, Ilknur Kıvanç; Sarıkaya, Sezgi; Sakiz, Damlanur

    2011-01-01

    Lupus erythematosus (LE) and lichen planus (LP) may occur as an overlap syndrome. We report the clinical characteristics of a young man with lesions diagnosed as LE and LP by histopathological and direct immunoflurosence examinations. We achieved remarkable clinical response from the treatment with topical corticosteroids and no recurrence was seen in a 6 months of follow up time. We found this case interesting because of the rapid improvement with corticosteroid and discussed if there is a real overlap or a coexistence according to the literature. PMID:25386300

  11. Touched by Turner

    ERIC Educational Resources Information Center

    Adams, Jeff

    2015-01-01

    This is a personal reflection on an encounter with the works of the nineteenth-century painter J. M. W. Turner in London's Tate Britain exhibition "Late Turner: Painting Set Free". The article discusses the deeply subjective nature of engaging with artworks, and touches upon theories that might account for the ineffable but moving…

  12. Asthma COPD Overlap Syndrome on CT Densitometry: A Distinct Phenotype from COPD.

    PubMed

    Gao, Yanli; Zhai, Xiaoli; Li, Kun; Zhang, Hong; Wang, Ying; Lu, Yong; Pan, Zhenyu; Zhang, Lei; Huang, Kewu; Zhai, Renyou

    2016-08-01

    Patients with asthma COPD overlap syndrome (ACOS) are an important but poorly characterized group. This study sought to explore the distinct characteristics of ACOS on CT densitometry. The study population was randomly selected from communities via questionnaires. All participants underwent low-dose volumetric chest CT both before and after bronchodilator administration. Each CT scan was performed at full-inspiration and full-expiration for CT densitometry. Emphysema index (EI), air trapping (AT), mean lung density (MLD) and total lung volume (TLV) were measured and compared between the ACOS and COPD groups. The distributions of both EI and AT were compared between patients with ACOS and COPD. The variations between the pre- and post-BD measurements observed in patients with ACOS were compared with those in patients with COPD. A total of 71 patients completed the study, including 32 patients with COPD and 39 patients with ACOS. The patients with ACOS exhibited lower EI and more upper-zone-predominant EI distributions, compared with the patients with COPD. No significant differences were exhibited in AT and its distribution. Following bronchodilator administration, the variations in AT and expiratory MLD were greater in patients with ACOS than in patients with COPD. No differences were observed in the variations of EI and inspiratory MLD. Our results indicate that patients with ACOS have lower extent of emphysema and different emphysema distribution, as well as greater post-BD variations in air trapping, compared with patients with COPD. These findings suggest that CT densitometry characterizes ACOS as a distinct phenotype from COPD. PMID:26742511

  13. Clinical, physiological, and radiological features of asthma–chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Suzuki, Toshio; Tada, Yuji; Kawata, Naoko; Matsuura, Yukiko; Ikari, Jun; Kasahara, Yasunori; Tatsumi, Koichiro

    2015-01-01

    Background Asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is associated with rapid decline in lung function, poorer health-related quality-of-life outcomes, and frequent exacerbations, compared to COPD alone. Although the numbers of patients with ACOS have increased, there is little established evidence regarding diagnostic criteria and treatment options. Thus, the aim of our study was to clarify the clinical, physiological, and radiological features of patients with ACOS. Methods We examined a total of 100 patients with COPD and 40 patients with ACOS, who were selected based on clinical criteria. All patients underwent baseline testing, including a COPD assessment test, pulmonary function tests, and multidetector row computed tomography imaging. Percentage of low attenuation volume, percentage of wall area, and percentage of total cross-sectional area of pulmonary vessels less than 5 mm2 (%CSA <5) were determined using multidetector row computed tomography. ACOS patients were administered a fixed dose of budesonide/formoterol (160/4.5 μg, two inhalations; twice daily) for 12 weeks, after which the ACOS patients underwent multidetector row computed tomography to measure the same parameters. Results At baseline, the ACOS patients and COPD patients had a similar degree of airflow limitation, vital capacity, and residual volume. ACOS patients had higher COPD assessment test scores, percentage of wall area, and %CSA <5 than COPD patients. Compared to baseline, budesonide/formoterol treatment significantly increased the forced expiratory volume in 1 second and decreased the degree of airway wall thickness (percentage of wall area) as well as pulmonary microvascular density (%CSA <5) in ACOS patients. Conclusion Our results suggest that ACOS is characterized by an airway lesion–dominant phenotype, in contrast to COPD. Higher %CSA <5 might be a characteristic feature of ACOS. PMID:26028967

  14. Overlapping irritable bowel syndrome and inflammatory bowel disease: less to this than meets the eye?

    PubMed Central

    Quigley, Eamonn M. M.

    2016-01-01

    Though distinct in terms of pathology, natural history and therapeutic approach, irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD) have some features in common. These include shared symptomatology and largely similar demographics. However, in most instances, clinical presentation, together with laboratory, imaging and endoscopic findings will readily permit the differentiation of active IBD from IBS. More problematic is the situation where a subject with IBD, in apparent remission, continues to complain of symptoms which, in aggregate, satisfy commonly employed criteria for the diagnosis of IBS. Access to methodologies, such the assay for levels of calprotectin in feces, now allows identification of ongoing inflammation in some such individuals and prompts appropriate therapy. More challenging is the IBD patient with persisting symptoms and no detectable evidence of inflammation; is this coincident IBS, IBS triggered by IBD or an even more subtle level of IBD activity unrecognized by available laboratory or imaging methods? Arguments can be advanced for each of these proposals; lacking definitive data, this issue remains unresolved. The occurrence of IBS-type symptoms in the IBD patient, together with some data suggesting a very subtle level of ‘inflammation‘ or ‘immune activation‘ in IBS, raises other questions: is IBS a prodromal form of IBD; and are IBS and IBD part of the spectrum of the same disease? All of the available evidence indicates that the answer to both these questions should be a resounding ‘no’. Indeed, the whole issue of overlap between IBS and IBD should be declared moot given their differing pathophysiologies, contrasting natural histories and divergent treatment paths. The limited symptom repertoire of the gastrointestinal tract may well be fundamental to the apparent confusion that has, of late, bedeviled this area. PMID:26929782

  15. In antisynthetase syndrome, ACPA are associated with severe and erosive arthritis: an overlapping rheumatoid arthritis and antisynthetase syndrome.

    PubMed

    Meyer, Alain; Lefevre, Guillaume; Bierry, Guillaume; Duval, Aurélie; Ottaviani, Sébastien; Meyer, Olivier; Tournadre, Anne; Le Goff, Benoit; Messer, Laurent; Buchdahl, Anne Laure; De Bandt, Michel; Deligny, Christophe; Dubois, Matthieu; Coquerelle, Pascal; Falgarone, Géraldine; Flipo, René-Marc; Mathian, Alexis; Geny, Bernard; Amoura, Zahir; Benveniste, Olivier; Hachulla, Eric; Sibilia, Jean; Hervier, Baptiste

    2015-05-01

    follow-up, extra-articular outcomes and survival were not different. ACPA-positive ASS patients showed an overlapping RA-ASS syndrome, were at high risk of refractory erosive arthritis, and might experience ASS flare when treated with antitumor necrosis factor drugs. In contrast, other biologics such as anti-CD20 mAb were effective in this context, without worsening systemic involvements. PMID:25997035

  16. Women with Turner syndrome are at high risk of lifestyle-related disease -From questionnaire surveys by the Foundation for Growth Science in Japan.

    PubMed

    Hanew, Kunihiko; Tanaka, Toshiaki; Horikawa, Reiko; Hasegawa, Tomonobu; Fujita, Keinosuke; Yokoya, Susumu

    2016-05-31

    In this study, the prevalence of obesity and complications of lifestyle-related diseases, such as diabetes mellitus, hypertension, dyslipidemia and liver dysfunction, as well as the relationship with karyotypes, were investigated in 492 patients with Turner syndrome (TS) aged 17 years or older. Data were obtained through questionnaire surveys administered by attending physicians throughout Japan. Collected data were compared with data from the National Health and Nutrition Survey. Patient ages ranged from 17.1 to 42.5 years (mean ± standard error, 26.6±0.2). The prevalence of lifestyle-related diseases at age 20 or over was 6.3% for diabetes, 8.7% for hypertension, 20.2% for dyslipidemia and 12.4% for liver dysfunction. These four diseases were clearly associated with severity of obesity. Obesity (BMI ≥25 kg/m(2)) was observed in 106 out of 426 patients with TS aged 15 to 39 years (24.7%) and the prevalence was significantly higher than that of the general female population (9.4%). The mean BMI in age subgroups without any complications ranged from 21.2 to 22.7, which although was within normal ranges was significantly higher than that in the general female population (20.3-21.3). In this study population, patients with TS had more complications related to lifestyle-related diseases that were highly related to obesity. Few associations between complications and karyotypes were found. In the follow-up of patients with TS, the presence of lifestyle-related disease should be considered in the evaluation and treatment of the disease. PMID:26877182

  17. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome.

    PubMed

    Freriks, K; Verhaak, C M; Sas, T C J; Menke, L A; Wit, J M; Otten, B J; de Muinck Keizer-Schrama, S M P F; Smeets, D F C M; Netea-Maier, R T; Hermus, A R M M; Kessels, R P C; Timmers, H J L M

    2015-03-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-term psychological functioning after oxandrolone (Ox) therapy during childhood in adults with TS in terms of neurocognition, quality of life and social-emotional functioning. During the initial study, girls were treated with growth hormone (GH) combined with placebo (Pl), Ox 0.03 mg/kg/day, or Ox 0.06 mg/kg/day from the age of eight, and estrogen from the age of twelve. Sixty-eight women participated in the current double-blinded follow-up study (mean age 24.0 years, mean time since stopping GH/Ox 8.7 years). We found no effects on neurocognition. Concerning quality of life women treated with Ox had higher anxiety levels (STAI 37.4 ± 8.4 vs 31.8 ± 5.0, p=0.002) and higher scores on the depression subscale of the SCL-90-R (25.7 ± 10.7 vs 20.5 ± 4.7, p=0.01). Regarding social-emotional functioning, emotion perception for fearful faces was lower in the Ox-treated patients, without effect on interpersonal behavior. Our exploratory study is the first to suggest that androgen treatment in adolescence possibly has long-term effects on adult quality of life and social-emotional functioning. However, differences are small and clinical implications of our results seem limited. Therefore we would not recommend against the use of Ox in light of psychological consequences. PMID:25562712

  18. Pharmacological Management of Elderly Patients with Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome: Room for Speculation?

    PubMed

    Castiglia, Daniela; Battaglia, Salvatore; Benfante, Alida; Sorino, Claudio; Scichilone, Nicola

    2016-06-01

    Asthma and chronic obstructive pulmonary disease (COPD) are two distinct diseases that share a condition of chronic inflammation of the airways and bronchial obstruction. In clinical settings, it is not rare to come across patients who present with clinical and functional features of both diseases, posing a diagnostic dilemma. The overlap condition has been termed asthma-COPD overlap syndrome (ACOS), and mainly occurs in individuals with long-standing asthma, especially if they are also current or former smokers. Patients with ACOS have poorer health-related quality of life and a higher exacerbation rate than subjects with asthma or COPD alone. Whether ACOS is a distinct nosological entity with genetic variants or rather a condition of concomitant diseases that overlap is still a matter of debate. However, there is no doubt that extended life expectancy has increased the prevalence of asthma and COPD in older ages, and thus the probability that overlap conditions occur in clinical settings. In addition, age-associated changes of the lung create the basis for the two entities to converge on the same subject. ACOS patients may benefit from a stepwise treatment similar to that of asthma and COPD; however, the proposed therapeutic algorithms are only speculative and extrapolated from studies that are not representative of the ACOS population. Inhaled corticosteroids are the mainstay of therapy, and always in conjunction with long-acting bronchodilators. The potential heterogeneity of the overlap syndrome in terms of inflammatory features (T helper-1 vs. T helper-2 pathways) may be responsible for the different responses to treatments. The interaction between respiratory drugs and concomitant diseases should be carefully evaluated. Similarly, the effect of non-respiratory drugs, such as aspirin, statins, and β-blockers, on lung function needs to be properly assessed. PMID:27138954

  19. Primary sclerosing cholangitis, autoimmune hepatitis and overlap syndromes in inflammatory bowel disease

    PubMed Central

    Saich, Rebecca; Chapman, Roger

    2008-01-01

    in patients with IBD, with up to 16% of patients with AIH also having ulcerative colitis. A small subgroup of patients have a AIH-PSC overlap syndrome and the management of these patients depends on liver histology, serum IgM levels, autoantibodies, degree of biochemical cholestasis and cholangiography as some of these patients may respond to immunosupression. PMID:18200656

  20. Quantitative computed tomography measurements of emphysema for diagnosing asthma-chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Xie, Mengshuang; Wang, Wei; Dou, Shuang; Cui, Liwei; Xiao, Wei

    2016-01-01

    Background The diagnostic criteria of asthma–COPD overlap syndrome (ACOS) are controversial. Emphysema is characteristic of COPD and usually does not exist in typical asthma patients. Emphysema in patients with asthma suggests the coexistence of COPD. Quantitative computed tomography (CT) allows repeated evaluation of emphysema noninvasively. We investigated the value of quantitative CT measurements of emphysema in the diagnosis of ACOS. Methods This study included 404 participants; 151 asthma patients, 125 COPD patients, and 128 normal control subjects. All the participants underwent pulmonary function tests and a high-resolution CT scan. Emphysema measurements were taken with an Airway Inspector software. The asthma patients were divided into high and low emphysema index (EI) groups based on the percentage of low attenuation areas less than −950 Hounsfield units. The characteristics of asthma patients with high EI were compared with those having low EI or COPD. Results The normal value of percentage of low attenuation areas less than −950 Hounsfield units in Chinese aged >40 years was 2.79%±2.37%. COPD patients indicated more severe emphysema and more upper-zone-predominant distribution of emphysema than asthma patients or controls. Thirty-two (21.2%) of the 151 asthma patients had high EI. Compared with asthma patients with low EI, those with high EI were significantly older, more likely to be male, had more pack-years of smoking, had more upper-zone-predominant distribution of emphysema, and had greater airflow limitation. There were no significant differences in sex ratios, pack-years of smoking, airflow limitation, or emphysema distribution between asthma patients with high EI and COPD patients. A greater number of acute exacerbations were seen in asthma patients with high EI compared with those with low EI or COPD. Conclusion Asthma patients with high EI fulfill the features of ACOS, as described in the Global Initiative for Asthma and Global

  1. Vitamin D deficiency is associated with impaired disease control in asthma–COPD overlap syndrome patients

    PubMed Central

    Odler, Balázs; Ivancsó, István; Somogyi, Vivien; Benke, Kálmán; Tamási, Lilla; Gálffy, Gabriella; Szalay, Balázs; Müller, Veronika

    2015-01-01

    Introduction The association between vitamin D and clinical parameters in obstructive lung diseases (OLDs), including COPD and bronchial asthma, was previously investigated. As asthma–COPD overlap syndrome (ACOS) is a new clinical entity, the prevalence of vitamin D levels in ACOS is unknown. Aim Our aim was to assess the levels of circulating vitamin D (25-hydroxyvitamin D [25(OH)D]) in different OLDs, including ACOS patients, and its correlation with clinical parameters. Methods A total of 106 men and women (control, n=21; asthma, n=44; COPD, n=21; and ACOS, n=20) were involved in the study. All patients underwent detailed clinical examinations; disease control and severity was assessed by disease-specific questionnaires (COPD assessment test, asthma control test, and modified Medical Research Council); furthermore, 25(OH)D levels were measured in all patients. Results The 25(OH)D level was significantly lower in ACOS and COPD groups compared to asthma group (16.86±1.79 ng/mL and 14.27±1.88 ng/mL vs 25.66±1.91 ng/mL). A positive correlation was found between 25(OH)D level and forced expiratory volume in 1 second (r=0.4433; P<0.0001), forced vital capacity (FVC) (r=0.3741; P=0.0004), forced expiratory flow between 25% and 75% of FVC (r=0.4179; P<0.0001), and peak expiratory flow (r=0.4846; P<0.0001) in OLD patient groups. Asthma control test total scores and the 25(OH)D level showed a positive correlation in the ACOS (r=0.4761; P=0.0339) but not in the asthma group. Higher COPD assessment test total scores correlated with decreased 25(OH)D in ACOS (r=−0.4446; P=0.0495); however, this was not observed in the COPD group. Conclusion Vitamin D deficiency is present in ACOS patients and circulating 25(OH)D level may affect disease control and severity. PMID:26451099

  2. A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.

    PubMed

    Matsushita, Masaki; Kitoh, Hiroshi; Mishima, Kenichi; Nishida, Yoshihiro; Ishiguro, Naoki

    2014-12-01

    Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on a 3-year-old boy with severe PFFD, who showed almost completely absent femora and fibulae, malformed pelvis and ectrodactyly of the left foot. These features were partially overlapped with those of Al-Awadi-Raas-Rothschild syndrome or Fuhrmann syndrome, both of which are caused by WNT7A mutations. Molecular analysis of our case, however, demonstrated no disease-causing mutations in the WNT7A gene. PMID:24839142

  3. Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

    PubMed

    Ciccolella, Marianna; Catteruccia, Michela; Benedetti, Sabina; Moroni, Isabella; Uziel, Graziella; Pantaleoni, Chiara; Chiapparini, Luisa; Bizzi, Alberto; D'Amico, Adele; Fattori, Fabiana; Salsano, Maria Letizia; Pastore, Anna; Tozzi, Giulia; Piemonte, Fiorella; Bertini, Enrico

    2012-12-01

    Brown-Vialetto-van Laere (BVVL) and Fazio-Londe (FL) are rare and clinically overlapping motor neurons syndromes. Recently BVVL has been associated with mutations in C20orf54/hRFT2 and defective riboflavin transport. We compared clinical and laboratory features of 6 patients (age range 11-17 years), with features of BVVL and FL overlap syndromes. Patients were assessed as following: blood levels of riboflavin and redox status, electrophysiological, neuroradiological and pulmonary studies, ALS functional rating scale and molecular genetic analysis. Two patients manifested deafness at ages of 3 and 10 years, and developed later subacute progressive ponto-bulbar palsy. A third patient markedly improved after intravenous immunoglobulins (IVIG), but then relapsed remaining unresponsive to treatment; he was not deaf although had abnormal auditory evoked responses (BAERs). The remaining 3 patients had no deafness, although likewise manifested subacute progressive ponto-bulbar palsy. We found hRFT2 mutations in 3/6 patients manifesting deafness or abnormal BAERs. No patient had reduced riboflavin blood levels. However, on riboflavin supplementation (10mg/kg/day) the most severely affected BVVL patient stopped progression of symptoms following 8 months of treatment. BVVL and FL are severe progressive diseases with overlapping symptoms although only hRFT2 mutated patients manifest deafness. Riboflavin supplementation seems to stabilize and improve progression of the disease. PMID:22824638

  4. Parsonage–Turner syndrome☆

    PubMed Central

    Monteiro dos Santos, Ricardo Barreto; dos Santos, Saulo Monteiro; Carneiro Leal, Flávio José Câmara; Lins, Otávio Gomes; Magalhães, Carmem; Mertens Fittipaldi, Ricardo Bruno

    2015-01-01

    Objective To describe the clinical, electrophysiological and imaging findings from Parsonage–Turner syndrome and evaluate the results from conservative treatment. Methods Eight cases were studied between February 2010 and February 2012, with a minimum follow-up of one year (mean of 14 months). All the patients answered a clinical questionnaire and underwent functional evaluation using the Constant and Murley score. After clinical suspicion was raised, an electromyography examination was performed to confirm the diagnosis. Results Eight patients (mean age of 29 years) were evaluated. The right side was affected in 70% of the cases, and the dominant side in 80% of the cases. All the patients reported that their shoulder pain had started suddenly, lasting from one to five days in six cases and up to 15 days in two cases. In three cases, severe atrophy of the deltoid muscle was observed. Hypotrophy of the supraspinatus and infraspinatus muscles was observed in three cases. A winged scapula was observed in the two remaining cases. Electromyography demonstrated involvement of the long thoracic nerve in these last two cases and confirmed the involvement of the axillary and suprascapular nerves in the remaining six cases. The mean score on the Constant and Murley scale was 96 at the end of the conservative treatment with non-steroidal anti-inflammatory drugs and physiotherapy. Six of the eight patients presented good recovery of muscle strength. Conclusions In the majority of the cases, the functional recovery was good, although muscle strength was not completely restored in some of them. PMID:26229940

  5. Overlapping of Serotonin Syndrome with Neuroleptic Malignant Syndrome due to Linezolid-Fluoxetine and Olanzapine-Metoclopramide Interactions: A Case Report of Two Serious Adverse Drug Effects Caused by Medication Reconciliation Failure on Hospital Admission.

    PubMed

    Mazhar, Faizan; Akram, Shahzad; Haider, Nafis; Ahmed, Rafeeque

    2016-01-01

    Antipsychotic and antidepressant are often used in combination for the treatment of neuropsychiatric disorders. The concomitant use of antipsychotic and/or antidepressant with drugs that may interact can lead to rare, life-threatening conditions such as serotonin syndrome and neuroleptic malignant syndrome. We describe a patient who has a history of taking two offending drugs that interact with drugs given during the course of hospital treatment which leads to the development of serotonin syndrome overlapped with neuroleptic malignant syndrome. The physician should be aware that both NMS and SS can appear as overlapping syndrome especially when patients use a combination of both antidepressants and antipsychotics. PMID:27433163

  6. Overlapping of Serotonin Syndrome with Neuroleptic Malignant Syndrome due to Linezolid-Fluoxetine and Olanzapine-Metoclopramide Interactions: A Case Report of Two Serious Adverse Drug Effects Caused by Medication Reconciliation Failure on Hospital Admission

    PubMed Central

    Akram, Shahzad; Haider, Nafis; Ahmed, Rafeeque

    2016-01-01

    Antipsychotic and antidepressant are often used in combination for the treatment of neuropsychiatric disorders. The concomitant use of antipsychotic and/or antidepressant with drugs that may interact can lead to rare, life-threatening conditions such as serotonin syndrome and neuroleptic malignant syndrome. We describe a patient who has a history of taking two offending drugs that interact with drugs given during the course of hospital treatment which leads to the development of serotonin syndrome overlapped with neuroleptic malignant syndrome. The physician should be aware that both NMS and SS can appear as overlapping syndrome especially when patients use a combination of both antidepressants and antipsychotics. PMID:27433163

  7. Overlap between functional GI disorders and other functional syndromes: what are the underlying mechanisms?

    PubMed Central

    KIM, S. E.; CHANG, L.

    2013-01-01

    Background Irritable bowel syndrome and other gastrointestinal (GI) and non-GI disorders such as functional dyspepsia, fibromyalgia, temporomandibular joint disorder, interstitial cystitis/painful bladder syndrome, and chronic fatigue syndrome are known as functional pain syndromes. They commonly coexist within the same individual. The pathophysiologic mechanisms of these disorders are not well understood, but it has been hypothesized that they share a common pathogenesis. Purpose The objective of this review is to discuss the proposed pathophysiologic mechanisms, which have been similarly studied in these conditions. These mechanisms include enhanced pain perception, altered regional brain activation, infectious etiologies, dysregulations in immune and neuroendocrine function, and genetic susceptibility. Studies suggest that these functional disorders are multifactorial, but factors which increase the vulnerability of developing these conditions are shared. PMID:22863120

  8. [Functional somatic pain syndromes: summary of hypotheses of their overlap and etiology].

    PubMed

    Henningsen, P; Derra, C; Türp, J C; Häuser, W

    2004-04-01

    Currently it is unclear whether functional somatic syndromes can be explained by one common underlying functional syndrome. In any case it does not seem justified to view functional somatic syndromes as purely psychological disorders (somatized anxiety or depression). Psychiatric comorbidity and life time stress including traumatisations are mainly, but not exclusively responsible for triggering health care utilisation. The lowered pain threshold that can be demonstrated clinically and experimentally in fibromyalgia, irritable bowel syndrome, tension headache and temporomandibular disorders is currently seen primarily as result of an altered central nervous processing of nociceptive input. In addition some results also hint at a disturbance in the hypothalamus-pituitary-adrenal axis. The predominance of female patients can be due to gender specific illness behaviour as well as to estrogen-induced changes in pain sensitivity. In sum, functional somatic syndromes currently are best explained by a biopsychosocial model of predisposing, triggering and maintaining factors. More research is needed particularly to clarify the role of genetic and of cultural factors. PMID:15067534

  9. Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology.

    PubMed

    Pepmueller, Peri Hickman

    2016-01-01

    Autoimmune diseases often have overlapping symptoms and laboratory somewhat unfamiliar to the non-rheumatologist. Characteristic signs, symptoms, and autoantibodies define specific connective tissue diseases. Some patients have some characteristic symptoms, but cannot be definitively classified. Still other patients meet criteria for more than one specific connective tissue disease. These patients can be confusing with regard to diagnosis and prognosis. Clarification of each patient's condition can lead to improved patient care. PMID:27311225

  10. A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome.

    PubMed

    Baiardi, Simone; La Morgia, Chiara; Mondini, Susanna; Cirignotta, Fabio

    2015-01-01

    We report for the first time the association between restless abdomen, a phenotypic variant of restless legs syndrome in which symptoms are limited to the abdomen, and propriospinal myoclonus at sleep onset causing severe insomnia. The treatment with a low-dosage of dopaminergic drug (pramipexole) induced the immediate disappearance of both symptoms, which was documented by video-polysomnography. PMID:25820108

  11. Idiopathic Hypereosinophilic Syndrome With Cutaneous Manifestations and Flame Figures: A Spectrum of Eosinophilic Dermatoses Whose Features Overlap With Wells' Syndrome

    PubMed Central

    Kiracofe, Elizabeth A.; Clark, Lindsey N.; Gru, Alejandro A.

    2015-01-01

    Importance: Wells syndrome (WS) (eosinophilic cellulitis) is an uncommon eosinophilic dermatitis that has been rarely described in association with, but distinct from, hypereosinophilic syndrome (HES). Observations: We report a case of an eosinophilic dermatosis with flame figures in association with idiopathic HES, manifested by inflammatory myocarditis, asthma, and peripheral blood eosinophilia. Conclusions and Relevance: The diagnoses of WS and HES, rather than being distinct findings, may represent 2 entities on a spectrum of hypereosinophilic diseases. The diagnosis of WS should be made with caution and should prompt a thorough investigation that includes a work-up for a systemic eosinophilic disorder. PMID:25839890

  12. Effects of Low-Dose Estrogen Replacement During Childhood on Pubertal Development and Gonadotropin Concentrations in Patients With Turner Syndrome: Results of a Randomized, Double-Blind, Placebo-Controlled Clinical Trial

    PubMed Central

    Wan, Xiaohai; Garg, Sipi; Kowal, Karen; Cutler, Gordon B.; Ross, Judith L.

    2014-01-01

    Context: The optimal approach to estrogen replacement in girls with Turner syndrome has not been determined. Objective: The aim of the study was to assess the effects of an individualized regimen of low-dose ethinyl estradiol (EE2) during childhood from as early as age 5, followed by a pubertal induction regimen starting after age 12 and escalating to full replacement over 4 years. Design: This study was a prospective, randomized, double-blind, placebo-controlled clinical trial. Setting: The study was conducted at two US pediatric endocrine centers. Subjects: Girls with Turner syndrome (n = 149), aged 5.0–12.5 years, were enrolled; data from 123 girls were analyzable for pubertal onset. Intervention(s): Interventions comprised placebo or recombinant GH injections three times a week, with daily oral placebo or oral EE2 during childhood (25 ng/kg/d, ages 5–8 y; 50 ng/kg/d, ages >8–12 y); after age 12, all patients received escalating EE2 starting at a nominal dosage of 100 ng/kg/d. Placebo/EE2 dosages were reduced by 50% for breast development before age 12 years, vaginal bleeding before age 14 years, or undue advance in bone age. Main Outcome Measures: The main outcome measures for this report were median ages at Tanner breast stage ≥2, median age at menarche, and tempo of puberty (Tanner 2 to menarche). Patterns of gonadotropin secretion and impact of childhood EE2 on gonadotropins also were assessed. Results: Compared with recipients of oral placebo (n = 62), girls who received childhood low-dose EE2 (n = 61) had significantly earlier thelarche (median, 11.6 vs 12.6 y, P < 0.001) and slower tempo of puberty (median, 3.3 vs 2.2 y, P = 0.003); both groups had delayed menarche (median, 15.0 y). Among childhood placebo recipients, girls who had spontaneous breast development before estrogen exposure had significantly lower median FSH values than girls who did not. Conclusions: In addition to previously reported effects on cognitive measures and GH

  13. An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease

    PubMed Central

    Alganabi, Mashriq; Eter, Ahmad

    2016-01-01

    We report a case of a 48-year-old male who presented with hematuria of at least 10 years, and has a daughter with hematuria as well. The patient has a history of degenerative hearing loss, decreased vision and cataract formation, but no diabetes, hypertension or proteinuria. A full serology and urology workup was negative for any abnormality. A kidney biopsy for the patient revealed a diagnosis of Alport syndrome but was unable to rule out thin basement membrane disease. The biopsy was inconclusive in making the diagnosis but the patient’s clinical presentation led to the diagnosis of Alport syndrome. The patient’s 10-year-old daughter also has hematuria with no clear etiology but now can subsequently be anticipatorily managed for Alport syndrome progression. Due to the rarity of the disease, diagnosis is often missed or delayed by primary care providers especially when no associated proteinuria has yet developed. This can lead to confusion and misdiagnosis with thin basement membrane disease, a generally benign hematuria without kidney failure progression. Additionally, biopsy can be inconclusive in these patients, relying on the physician’s history and physical examination findings to diagnose. It is important to appropriately diagnose Alport syndrome not only to manage the patient’s rate of kidney failure progression but also allow for a higher degree of suspicion, screening and intervention in the patient’s family members. Both the inconclusive nature of kidney biopsies and the usefulness of diagnosis for family member screening are often overlooked in medical literature but are explored in this case.

  14. Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

    PubMed

    Kroes, Hester Y; Nievelstein, Rutger-Jan A J; Barth, Peter G; Nikkels, Peter G J; Bergmann, Carsten; Gooskens, Rob H J M; Visser, Gepke; van Amstel, Hans-Kristian Ploos; Beemer, Frits A

    2005-06-15

    We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly. A tentative diagnosis of JBS was made, and autosomal recessive inheritance considered most likely. In a subsequent pregnancy that occurred after artificial donor insemination, ultrasound in the 22nd week revealed a Dandy-Walker malformation and hydrocephaly. At autopsy at 34 weeks of gestation, the male infant showed cerebellar vermis aplasia and abnormalities of the brainstem and cerebral cortex. He was considered to have the same disorder as his two half-brothers. This renders the pedigree highly suggestive of X-linked inheritance. The clinical symptoms of this syndrome resemble JBS. However, the absence of the molar tooth sign and the X-linked inheritance do not support JBS. We propose the name X-linked cerebral-cerebellar-coloboma syndrome to distinguish the two disorders. Differentiation of the two disorders is especially important in genetic counseling, where artificial donor insemination may be considered as a means of reducing the recurrence risk, or when female relatives of the patient are concerned. PMID:15887274

  15. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... pregnancies that do not survive to term (miscarriages and stillbirths). Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  16. Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

    PubMed

    Stewart, Douglas R; Pemov, Alexander; Johnston, Jennifer J; Sapp, Julie C; Yeager, Meredith; He, Ji; Boland, Joseph F; Burdett, Laurie; Brown, Christina; Gatti, Richard A; Alter, Blanche P; Biesecker, Leslie G; Savage, Sharon A

    2014-01-01

    Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized and performed exome sequencing and high-density array SNP genotyping on three individuals with Dubowitz syndrome, including a pair of previously-described siblings (Patients 1 and 2, brother and sister) and an unpublished patient (Patient 3). Given the siblings' history of bone marrow abnormalities, we also evaluated telomere length and performed radiosensitivity assays. In the siblings, exome sequencing identified compound heterozygosity for a known rare nonsense substitution in the nuclear ligase gene LIG4 (rs104894419, NM_002312.3:c.2440C>T) that predicts p.Arg814X (MAF:0.0002) and an NM_002312.3:c.613delT variant that predicts a p.Ser205Leufs*29 frameshift. The frameshift mutation has not been reported in 1000 Genomes, ESP, or ClinSeq. These LIG4 mutations were previously reported in the sibling sister; her brother had not been previously tested. Western blotting showed an absence of a ligase IV band in both siblings. In the third patient, array SNP genotyping revealed a de novo ∼ 3.89 Mb interstitial deletion at chromosome 17q24.2 (chr 17:62,068,463-65,963,102, hg18), which spanned the known Carney complex gene PRKAR1A. In all three patients, a median lymphocyte telomere length of ≤ 1st centile was observed and radiosensitivity assays showed increased sensitivity to ionizing radiation. Our work suggests that, in addition to dyskeratosis congenita, LIG4 and 17q24.2 syndromes also feature shortened telomeres; to confirm this, telomere length testing should be considered in both disorders. Taken together, our work and other reports on Dubowitz syndrome, as currently recognized, suggest that it is not a unitary entity but instead a collection of phenotypically

  17. Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

    PubMed Central

    Stewart, Douglas R.; Pemov, Alexander; Johnston, Jennifer J.; Sapp, Julie C.; Yeager, Meredith; He, Ji; Boland, Joseph F.; Burdett, Laurie; Brown, Christina; Gatti, Richard A.; Alter, Blanche P.; Biesecker, Leslie G.; Savage, Sharon A.

    2014-01-01

    Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized and performed exome sequencing and high-density array SNP genotyping on three individuals with Dubowitz syndrome, including a pair of previously-described siblings (Patients 1 and 2, brother and sister) and an unpublished patient (Patient 3). Given the siblings' history of bone marrow abnormalities, we also evaluated telomere length and performed radiosensitivity assays. In the siblings, exome sequencing identified compound heterozygosity for a known rare nonsense substitution in the nuclear ligase gene LIG4 (rs104894419, NM_002312.3:c.2440C>T) that predicts p.Arg814X (MAF:0.0002) and an NM_002312.3:c.613delT variant that predicts a p.Ser205Leufs*29 frameshift. The frameshift mutation has not been reported in 1000 Genomes, ESP, or ClinSeq. These LIG4 mutations were previously reported in the sibling sister; her brother had not been previously tested. Western blotting showed an absence of a ligase IV band in both siblings. In the third patient, array SNP genotyping revealed a de novo ∼3.89 Mb interstitial deletion at chromosome 17q24.2 (chr 17:62,068,463–65,963,102, hg18), which spanned the known Carney complex gene PRKAR1A. In all three patients, a median lymphocyte telomere length of ≤1st centile was observed and radiosensitivity assays showed increased sensitivity to ionizing radiation. Our work suggests that, in addition to dyskeratosis congenita, LIG4 and 17q24.2 syndromes also feature shortened telomeres; to confirm this, telomere length testing should be considered in both disorders. Taken together, our work and other reports on Dubowitz syndrome, as currently recognized, suggest that it is not a unitary entity but instead a collection of phenotypically

  18. Prevalence of asthma–COPD overlap syndrome among primary care asthmatics with a smoking history: a cross-sectional study

    PubMed Central

    Kiljander, Toni; Helin, Timo; Venho, Kari; Jaakkola, Antero; Lehtimäki, Lauri

    2015-01-01

    Background: The overlap between asthma and chronic obstructive pulmonary disease (COPD) is an important clinical phenomenon. However, the prevalence of asthma–COPD overlap syndrome (ACOS) is not known. Aims: To investigate the prevalence of ACOS among asthmatic patients with a smoking history, and evaluate the factors predicting ACOS in this patient group. Methods: We investigated 190 primary care asthma patients with no previous diagnosis of COPD, but who were either current or ex-smokers, with a smoking history of at least 10 pack-years. Spirometry was performed on all the patients while they were taking their normal asthma medication. Patients were considered to have ACOS if their postbronchodilator forced expiratory volume in 1 s/forced vital capacity was <0.70. Results: Fifty-two (27.4%) of the patients were found to have ACOS. Age ⩾60 years and smoking for ⩾20 pack-years were the best predictors of ACOS. If both of these criteria were met, the odds ratio (95% confidence interval) for ACOS was 6.08 (2.11–17.49), compared with the situation where neither of these criteria were fulfilled. Conclusions: There is a high prevalence of ACOS among primary health care asthmatics with a positive smoking history but no previous diagnosis of COPD. In this population, age over 60 years and a smoking history of more than 20 pack-years were the best predictors of ACOS. PMID:26182124

  19. Lupus erythematosus and localized scleroderma coexistent at the same sites: a rare presentation of overlap syndrome of connective-tissue diseases.

    PubMed

    Pascucci, Anabella; Lynch, Peter J; Fazel, Nasim

    2016-05-01

    Overlap syndromes are known to occur with connective-tissue diseases (CTDs). Rarely, the overlap occurs at the same tissue site. We report the case of a patient with clinical and histopathologic findings consistent with the presence of discoid lupus erythematosus (DLE) and localized scleroderma within the same lesions. Based on our case and other reported cases in the literature, the following features are common in patients with an overlap of lupus erythematosus (LE) and localized scleroderma: predilection for young women, photodistributed lesions, DLE, linear morphology clinically, and positivity along the dermoepidermal junction on direct immunofluorescence. Most patients showed good response to antimalarials, topical steroids, or systemic steroids. PMID:27274545

  20. Eculizumab for rescue of thrombotic microangiopathy in PM-Scl antibody-positive autoimmune overlap syndrome

    PubMed Central

    Thomas, Christie P.; Nester, Carla M.; Phan, Andrew C.; Sharma, Manisha; Steele, Amanda L.; Lenert, Petar S.

    2015-01-01

    A 46-year-old female with interstitial lung disease presented with proximal muscle weakness, worsening hypertension, microangiopathic hemolysis, thrombocytopenia and deteriorating renal function. She had no sclerodactyly, but had abnormal capillaroscopy. She tested positive for PM-Scl antibodies, and a renal biopsy showed an acute thrombotic microangiopathy consistent with scleroderma renal crisis (SRC). She failed to respond to corticosteroids, plasmapheresis and renin–angiotensin pathway inhibitors. She recovered quickly with the anti-C5 antibody, eculizumab. She had no genetic abnormalities associated with atypical hemolytic uremic syndrome except a DNA variant of unknown significance in C3. This case suggests that eculizumab may be effective for SRC. PMID:26613027

  1. Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue.

    PubMed

    Hanson, Lars; Bryman, Inger; Janson, Per Olof; Jakobsen, Anne-Marie; Hanson, Charles

    2002-01-01

    The early detection of Y-chromosomal material in women with Turner syndrome (TS) is of great importance due to a relatively high risk of gonadal tumour development. Using fluorescence in situ hybridisation (FISH) analysis, we studied the presence of three different Y-specific sequences (SRY, Ycen and Yq12) in three different tissues (oral epithelial cells, lymphocytes and ovarian tissue) of twelve TS women. We have also described their ovarian histology. Two of the women (17%) had gonadal tumours. In five women where ovarian tissue was available, the presence of Y-chromosomal material in oral epithelial cells and lymphocytes correlated to the presence of Y-chromosomal material in the gonads. We therefore conclude that FISH analysis of oral epithelial cells and/or lymphocytes is a valuable complement to karyotyping for the early detection of Y-chromosomal material in TS women. PMID:12564626

  2. Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

    PubMed Central

    Patil, Bharat; Nayak, Bhagabat; Sharma, Reetika; Kumari, Sadhana; Dada, Tanuj

    2015-01-01

    Aim. To report a case of bilateral Sturge-Weber and Phakomatosis pigmentovascularis with secondary glaucoma in a child. Method. Case report. Results. A 4-year-old male child was referred to us for control of intraocular pressure (IOP). Sleeping IOP was 36 mm Hg in right eye and 28 mm Hg in the left eye. The sclera of both the eyes showed bluish black pigmentation—melanosis bulbi. Fundus examination of both eyes showed diffuse choroidal hemangiomas with glaucomatous cupping. Nevus flammeus was present on both sides of face along all the 3 divisions of trigeminal nerve with overlying hypertrophy of skin and on left forearm. Nevus fuscocaeruleus was present on upper trunk. All skin lesions were present since birth and were stationary in nature. CT scan of head revealed left-sided cerebral atrophy. Intraocular pressure was controlled after treatment with topical antiglaucoma medications. Pulsed Dye Laser has been advised by dermatologist for skin lesions. Patient has been advised for regular follow-up. Conclusion. The two overlapping dermatological disorders and their association with glaucoma are a rare entity. Management should be targeted both for dermatological and eye conditions. PMID:26064732

  3. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome

    SciTech Connect

    Gandelman, K.Y.; Gibson, L.; Meyn, M.S.; Yang-Feng, T.L. )

    1992-09-01

    Wolf-Hirschhorn syndrome (WHS), associated with a deletion of chromosome 4p, is characterized by mental and growth retardation and typical dysmorphism. A girl with clinical features of WHS was found to carry a subtle deletion of chromosome 4p. Initially suggested by high-resolution chromosome analysis, her deletion was confirmed by fluorescence in situ hybridization (FISH) with cosmid probes, E13, and Y2, of D4S113. To delineate this 4p deletion, the authors performed a series of FISH and pulsed-field gel electrophoresis analysis by using probes from 4p16.3. A deletion of [approximately]2.5 Mb with the breakpoint at [approximately]80 kb distal to D4S43 was defined in this patient and appears to be the smallest WHS deletion so far identified. To further refine the WHS critical region, they have studied three unrelated patients with presumptive 4p deletions, two resulting from unbalanced segregations of parental chromosomal translocations and one resulting from an apparently de novo unbalanced translocation. Larger deletions were identified in two patients with WHS. One patient who did not clinically present with WHS had a smaller deletion that thus eliminates the distal 100-300 kb from the telomere as being part of the WHS region. This study has localized the WHS region to [approximately]2 MB between D4S43 and D4S142. 37 refs., 4 figs., 1 tab.

  4. Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes

    PubMed Central

    Weinshenker, Brian; Akman-Demir, Gulsen; Asgari, Nasrin; Barnes, David; Boggild, Mike; Chaudhuri, Abhijit; D’hooghe, Marie; Evangelou, Nikos; Geraldes, Ruth; Illes, Zsolt; Jacob, Anu; Kim, Ho Jin; Kleiter, Ingo; Levy, Michael; Marignier, Romain; McGuigan, Christopher; Murray, Katy; Nakashima, Ichiro; Pandit, Lekha; Paul, Friedemann; Pittock, Sean; Selmaj, Krzysztof; de Sèze, Jérôme; Siva, Aksel; Tanasescu, Radu; Vukusic, Sandra; Wingerchuk, Dean; Wren, Damian; Leite, Isabel

    2016-01-01

    Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests. Diagnoses were categorized into four groups (NMO, MS, indeterminate, other) and management into three groups (MS drugs, immunosuppression, no treatment). The mean proportion of agreement for the diagnosis was low (po = 0.51) and ranged from 0.25 to 0.73 for individual patients. The majority opinion was divided between NMOSD versus: MS (nine cases), monophasic longitudinally extensive transverse myelitis (LETM) (1), acute disseminated encephalomyelitis (ADEM) (1) and recurrent isolated optic neuritis (RION) (1). Typical NMO features (e.g., LETM) influenced the diagnosis more than features more consistent with MS (e.g., short TM). Agreement on the treatment of patients was higher (po = 0.64) than that on the diagnosis with immunosuppression being the most common choice not only in patients with the diagnosis of NMO (98 %) but also in those indeterminate between NMO and MS (74 %). The diagnosis in AQP4-IgG-negative NMO/MS overlap syndromes is challenging and diverse. The classification of such patients currently requires new diagnostic categories, which incorporate lesser degrees of diagnostic confidence. Long-term follow-up may identify early features or biomarkers, which can more accurately distinguish the underlying disorder. PMID:26530512

  5. Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes.

    PubMed

    Juryńczyk, Maciej; Weinshenker, Brian; Akman-Demir, Gulsen; Asgari, Nasrin; Barnes, David; Boggild, Mike; Chaudhuri, Abhijit; D'hooghe, Marie; Evangelou, Nikos; Geraldes, Ruth; Illes, Zsolt; Jacob, Anu; Kim, Ho Jin; Kleiter, Ingo; Levy, Michael; Marignier, Romain; McGuigan, Christopher; Murray, Katy; Nakashima, Ichiro; Pandit, Lekha; Paul, Friedemann; Pittock, Sean; Selmaj, Krzysztof; de Sèze, Jérôme; Siva, Aksel; Tanasescu, Radu; Vukusic, Sandra; Wingerchuk, Dean; Wren, Damian; Leite, Isabel; Palace, Jacqueline

    2016-01-01

    Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests. Diagnoses were categorized into four groups (NMO, MS, indeterminate, other) and management into three groups (MS drugs, immunosuppression, no treatment). The mean proportion of agreement for the diagnosis was low (p o = 0.51) and ranged from 0.25 to 0.73 for individual patients. The majority opinion was divided between NMOSD versus: MS (nine cases), monophasic longitudinally extensive transverse myelitis (LETM) (1), acute disseminated encephalomyelitis (ADEM) (1) and recurrent isolated optic neuritis (RION) (1). Typical NMO features (e.g., LETM) influenced the diagnosis more than features more consistent with MS (e.g., short TM). Agreement on the treatment of patients was higher (p o = 0.64) than that on the diagnosis with immunosuppression being the most common choice not only in patients with the diagnosis of NMO (98 %) but also in those indeterminate between NMO and MS (74 %). The diagnosis in AQP4-IgG-negative NMO/MS overlap syndromes is challenging and diverse. The classification of such patients currently requires new diagnostic categories, which incorporate lesser degrees of diagnostic confidence. Long-term follow-up may identify early features or biomarkers, which can more accurately distinguish the underlying disorder. PMID:26530512

  6. Redox Proteomics Analysis to Decipher the Neurobiology of Alzheimer-like Neurodegeneration: Overlaps in Down Syndrome and Alzheimer Disease Brain

    PubMed Central

    Butterfield, D. Allan; Di Domenico, Fabio; Swomley, Aaron M.; Head, Elizabeth; Perluigi, Marzia

    2015-01-01

    Accumulation of oxidative damage is a common feature of neurodegeneration that together with mitochondrial dysfunction point to the fact that reactive oxygen species are major contributors to loss of neuronal homeostasis and cell death. Among several targets of oxidative stress, free radical-mediated damage to proteins is particularly important in aging and age-related neurodegenerative diseases. In the majority of cases, oxidative stress mediated post-translational modifications cause non-reversible modifications of protein structure that consistently lead to impaired function. Redox proteomics methods are powerful tools to unravel the complexity of neurodegeneration, by identifying brain proteins with oxidative post-translational modifications that are detrimental for protein function. The present review discusses the current literature showing evidence of impaired pathways linked to oxidative stress possibly involved in the neurodegenerative process leading to the development of Alzheimer-like dementia. In particular, we focus attention on dysregulated pathways that underlie neurodegeneration in both aging adults with Down syndrome (DS) and AD. Since AD pathology is age-dependent in DS and shows similarities with AD, identification of common oxidized proteins by redox proteomics in both DS and AD can improve our understanding of the overlapping mechanisms that lead from normal aging to development of AD. The most relevant proteomics findings highlight that disturbance of protein homeostasis and energy production are central mechanisms of neurodegeneration and overlap in aging DS and AD. Protein oxidation impacts crucial intracellular functions and may be considered a “leitmotif” of degenerating neurons. Therapeutic strategies aimed at preventing/reducing multiple components of processes leading to accumulation of oxidative damage will be critical in future studies. PMID:25242166

  7. Chronic fatigue syndrome and seasonal affective disorder: comorbidity, diagnostic overlap, and implications for treatment.

    PubMed

    Terman, M; Levine, S M; Terman, J S; Doherty, S

    1998-09-28

    This study aimed to determine symptom patterns in patients with chronic fatigue syndrome (CFS), in summer and winter. Comparison data for patients with seasonal affective disorder (SAD) were used to evaluate seasonal variation in mood and behavior, atypical neurovegetative symptoms characteristic of SAD, and somatic symptoms characteristic of CFS. Rating scale questionnaires were mailed to patients previously diagnosed with CFS. Instruments included the Personal Inventory for Depression and SAD (PIDS) and the Systematic Assessment for Treatment Emergent Effects (SAFTEE), which catalogs the current severity of a wide range of somatic, behavioral, and affective symptoms. Data sets from 110 CFS patients matched across seasons were entered into the analysis. Symptoms that conform with the Centers for Disease Control and Prevention (CDC) case definition of CFS were rated as moderate to very severe during the winter months by varying proportions of patients (from 43% for lymph node pain or enlargement, to 79% for muscle, joint, or bone pain). Fatigue was reported by 92%. Prominent affective symptoms included irritability (55%), depressed mood (52%), and anxiety (51%). Retrospective monthly ratings of mood, social activity, energy, sleep duration, amount eaten, and weight change showed a coherent pattern of winter worsening. Of patients with consistent summer and winter ratings (n = 73), 37% showed high global seasonality scores (GSS) > or = 10. About half this group reported symptoms indicative of major depressive disorder, which was strongly associated with high seasonality. Hierarchical cluster analysis of wintertime symptoms revealed 2 distinct clinical profiles among CFS patients: (a) those with high seasonality, for whom depressed mood clustered with atypical neurovegetative symptoms of hypersomnia and hyperphagia, as is seen in SAD; and (b) those with low seasonality, who showed a primary clustering of classic CFS symptoms (fatigue, aches, cognitive disturbance

  8. Stevens Johnson Syndrome-Toxic Epidermal Necrolysis Overlap Secondary to Interaction Between Methotrexate and Etoricoxib: A Case Report

    PubMed Central

    Anuradha, HV; Mounika, Reddy

    2015-01-01

    Rheumatoid arthritis (RA) is an autoimmune disease affecting about 1% of people, with the highest incidence between 40 and 70 years. Methotrexate is an anti-folate analogue that has good efficacy and safety in the treatment of RA. Methotrexate (MTX) and non-steroidal anti inflammatory drugs are often concomitantly administered in clinical practice for the treatment of RA. In this case report, a 57-year-old female was treated with oral methotrexate 7.5 mg per week for a diagnosed case of RA. Since her pain persisted after completing six weeks of treatment with methotrexate, oral etoricoxib 60 mg once daily was added to the treatment regimen. Six weeks later, the patient complained of oral ulcerations and blisters on all fours limbs and trunk. The patient was re-evaluated and was diagnosed with Stevens-Johnson syndrome-Toxic epidermal necrolysis (SJS-TEN) overlap. This case highlights the possible pharmacokinetic interaction between methotrexate and etoricoxib that has a significant clinical implication. PMID:26417551

  9. COPD assessment test and severity of airflow limitation in patients with asthma, COPD, and asthma–COPD overlap syndrome

    PubMed Central

    Kurashima, Kazuyoshi; Takaku, Yotaro; Ohta, Chie; Takayanagi, Noboru; Yanagisawa, Tsutomu; Sugita, Yutaka

    2016-01-01

    Objective The COPD assessment test (CAT) consists of eight nonspecific scores of quality of life. The aim of this study was to compare the health-related quality of life and severity of airflow limitation in patients with asthma, COPD, and asthma–COPD overlap syndrome (ACOS) using the CAT. Methods We examined CAT and lung functions in 138 patients with asthma, 99 patients with COPD, 51 patients with ACOS, and 44 patients with chronic cough as a control. The CAT score was recorded in all subjects, and the asthma control test was also administered to patients with asthma and ACOS. The CAT scores were compared, and the relationships between the scores and lung function parameters were analyzed. Results The total CAT scores and scores for cough, phlegm, and dyspnea were higher in patients with ACOS than in patients with asthma and COPD. The total CAT scores were correlated with the percent predicted forced expiratory volume in 1 second only in patients with COPD. The total CAT scores and dyspnea scores adjusted by the percent predicted forced expiratory volume in 1 second were higher in patients with ACOS than in patients with COPD and asthma. The CAT scores and asthma control test scores were more closely correlated in patients with ACOS than in patients with asthma. Conclusion Patients with ACOS have higher disease impacts and dyspnea sensation unproportional to the severity of airflow limitation. PMID:27019598

  10. Asthma–Chronic Obstructive Pulmonary Diseases Overlap Syndrome Increases the Risk of Incident Tuberculosis: A National Cohort Study

    PubMed Central

    Yeh, Jun-Jun; Wang, Yu-Chiao; Kao, Chia-Hung

    2016-01-01

    Purpose The association between asthma–chronic obstructive pulmonary diseases (COPD) overlap syndrome (ACOS) and tuberculosis (TB) has yet to be studied. Methods The newly diagnosed TB patients (age > 20 y) treated from January 2000 to December 2008 were included (ACOS cohort, n = 10 751; non-ACOS cohort, n = 42 966). The non-ACOS cohort involved patients with confirmed absence of ACOS. We calculated incidence rate ratios (IRRs) for TB in the ACOS and non-ACOS cohorts by using poisson regression analysis. Cox proportional hazards regression models were used to determine the adjusted HR (aHR) for TB in the ACOS cohort compared with the non-ACOS cohort. Results The aHR for TB was 2.41 (95% confidence interval [CI], 2.19–2.66) in the ACOS cohort. The TB risk was significantly higher in the ACOS cohort than in the non-ACOS cohort when stratified by age, sex, comorbidities, and atopy. Within the ACOS cohort, the aHR was higher among patients receiving SABAs+SAMAs, LABAs+LAMAs, and ICSs (aHR [95% CI]: 3.06 [2.75–3.41], 3.68 [2.93–4.61], and 2.79 [1.25–6.22], respectively; all P < .05). Furthermore, patients with more than 15 outpatient visits and hospitalizations per year demonstrated the highest aHR (8.09; 95% CI, 6.85–9.56). Conclusions ACOS cohort potentially develop incident TB, regardless of the age,sex, comorbidities and atopy; even without receiving the inhalers.This risk is higher, especially in the ACOS cohort have a high frequency of medical services or receiving the inhalers such as SABAs+SAMAs, LABAs+LAMAs and ICSs. PMID:27448309

  11. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

    PubMed Central

    Zou, Yaqun; Zwolanek, Daniela; Izu, Yayoi; Gandhy, Shreya; Schreiber, Gudrun; Brockmann, Knut; Devoto, Marcella; Tian, Zuozhen; Hu, Ying; Veit, Guido; Meier, Markus; Stetefeld, Jörg; Hicks, Debbie; Straub, Volker; Voermans, Nicol C.; Birk, David E.; Barton, Elisabeth R.; Koch, Manuel; Bönnemann, Carsten G.

    2014-01-01

    Collagen VI-related myopathies are disorders of connective tissue presenting with an overlap phenotype combining clinical involvement from the muscle and from the connective tissue. Not all patients displaying related overlap phenotypes between muscle and connective tissue have mutations in collagen VI. Here, we report a homozygous recessive loss of function mutation and a de novo dominant mutation in collagen XII (COL12A1) as underlying a novel overlap syndrome involving muscle and connective tissue. Two siblings homozygous for a loss of function mutation showed widespread joint hyperlaxity combined with weakness precluding independent ambulation, while the patient with the de novo missense mutation was more mildly affected, showing improvement including the acquisition of walking. A mouse model with inactivation of the Col12a1 gene showed decreased grip strength, a delay in fiber-type transition and a deficiency in passive force generation while the muscle seems more resistant to eccentric contraction induced force drop, indicating a role for a matrix-based passive force-transducing elastic element in the generation of the weakness. This new muscle connective tissue overlap syndrome expands on the emerging importance of the muscle extracellular matrix in the pathogenesis of muscle disease. PMID:24334604

  12. Dystrophic calcinosis with both a huge calcified mass in the cervical spine and calcification in the chest wall in a patient with rheumatoid overlap syndrome.

    PubMed

    Nakamura, Tadashi; Hirakawa, Kei; Takaoka, Hirokazu; Iyama, Ken-Ichi

    2016-05-01

    Dystrophic calcinosis in soft tissue occurs in damaged or devitalized tissues in the presence of normal calcium and phosphorous metabolism. It is often noted in subcutaneous tissues in patients with collagen vascular diseases and may involve a relatively localized area or be widespread. A 74-year-old Japanese woman with an overlap of rheumatoid arthritis, Sjögren's syndrome, and systemic sclerosis developed a huge tumor-like mass at the atlanto-axial vertebral joint region that caused severe cervical pain and difficulty in activities of daily living. She also had subcutaneous dystrophic calcification in the soft tissue of the chest wall. Calcinosis associated with systemic sclerosis is a well-recognized phenomenon, but a destructive paraspinal tumor in the cervical spine associated with overlap syndrome is extremely unique. Because calcinosis in spinal locations can be complicated by neurological involvement, patients with progressive symptoms may require surgical intervention. Surgical resection and biological therapy improved this patient's life and activities of daily living. Calcinosis is common in the conditions reviewed here, and different agents have been used for treatment. However, calcinosis management is poorly organized and lacks an accepted classification, systematic studies, and clinical therapeutic trials. The association of calcinosis and collagen vascular diseases is clinically and etiologically important. Although a combination of calcinosis and rheumatoid overlap syndrome is rare, various collagen vascular diseases may occur simultaneously. A perceptive diagnostic approach toward these diseases is critical, and early diagnosis and treatment are needed to prevent dystrophic calcinosis. PMID:24894107

  13. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  14. Functional Dyspepsia: Subtypes, Risk Factors, and Overlap with Irritable Bowel Syndrome in a Population of African Patients

    PubMed Central

    Nwokediuko, Sylvester Chuks; Ijoma, Uchenna; Obienu, Olive

    2012-01-01

    Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs. PMID:23213327

  15. Characteristics of reversible and nonreversible COPD and asthma and COPD overlap syndrome patients: an analysis of salbutamol Easyhaler data

    PubMed Central

    Müller, Veronika; Gálffy, Gabriella; Orosz, Márta; Kováts, Zsuzsanna; Odler, Balázs; Selroos, Olof; Tamási, Lilla

    2016-01-01

    The choice of inhaler device for bronchodilator reversibility is crucial since suboptimal inhalation technique may influence the result. On the other hand, bronchodilator response also varies from time to time and may depend on patient characteristics. In this study, patients with airway obstruction (forced expiratory volume in 1 second [FEV1]/forced vital capacity [FVC] ratio <70% in chronic obstructive pulmonary disease [COPD]; <80% in asthma) were included (n=121, age: 57.8±17.3 years). Bronchodilator reversibility (American Thoracic Society/European Respiratory Society criteria) was tested in patients with COPD (n=63) and asthma and COPD overlap syndrome (ACOS; n=12). Forty-six asthmatics served as controls. Reversibility was tested with 400 µg salbutamol dry powder inhaler (Buventol Easyhaler, Orion Pharma Ltd, Espoo, Finland). Demographic data and patients’ perceptions of Easyhaler compared with β2-agonist pressurized metered dose inhalers (pMDIs) were analyzed. American Thoracic Society/European Respiratory Society guideline defined reversibility was found in 21 out of 63 COPD patients and in two out of 12 ACOS patients. Airway obstruction was more severe in COPD patients as compared with controls (mean FEV1 and FEV1% predicted both P<0.0001). Average response to salbutamol was significantly lower in COPD patients compared with asthma controls (P<0.0001). Reversibility was equally often found in smokers as in never-smokers (33% vs 34%). Nonreversible COPD patients had higher mean weight, body mass index, and FEV1/FVC compared with reversible COPD patients. Most patients preferred Easyhaler and defined its use as simpler and more effective than use of a pMDI. Never-smokers and patients with asthma experienced Easy-haler somewhat easier to use than smokers and patients with COPD. In conclusion, a substantial part of patients with COPD or ACOS showed reversibility to salbutamol dry powder inhaler. Nonreversible patients with COPD were characterized by

  16. Characteristics of reversible and nonreversible COPD and asthma and COPD overlap syndrome patients: an analysis of salbutamol Easyhaler data.

    PubMed

    Müller, Veronika; Gálffy, Gabriella; Orosz, Márta; Kováts, Zsuzsanna; Odler, Balázs; Selroos, Olof; Tamási, Lilla

    2016-01-01

    The choice of inhaler device for bronchodilator reversibility is crucial since suboptimal inhalation technique may influence the result. On the other hand, bronchodilator response also varies from time to time and may depend on patient characteristics. In this study, patients with airway obstruction (forced expiratory volume in 1 second [FEV1]/forced vital capacity [FVC] ratio <70% in chronic obstructive pulmonary disease [COPD]; <80% in asthma) were included (n=121, age: 57.8±17.3 years). Bronchodilator reversibility (American Thoracic Society/European Respiratory Society criteria) was tested in patients with COPD (n=63) and asthma and COPD overlap syndrome (ACOS; n=12). Forty-six asthmatics served as controls. Reversibility was tested with 400 µg salbutamol dry powder inhaler (Buventol Easyhaler, Orion Pharma Ltd, Espoo, Finland). Demographic data and patients' perceptions of Easyhaler compared with β2-agonist pressurized metered dose inhalers (pMDIs) were analyzed. American Thoracic Society/European Respiratory Society guideline defined reversibility was found in 21 out of 63 COPD patients and in two out of 12 ACOS patients. Airway obstruction was more severe in COPD patients as compared with controls (mean FEV1 and FEV1% predicted both P<0.0001). Average response to salbutamol was significantly lower in COPD patients compared with asthma controls (P<0.0001). Reversibility was equally often found in smokers as in never-smokers (33% vs 34%). Nonreversible COPD patients had higher mean weight, body mass index, and FEV1/FVC compared with reversible COPD patients. Most patients preferred Easyhaler and defined its use as simpler and more effective than use of a pMDI. Never-smokers and patients with asthma experienced Easy-haler somewhat easier to use than smokers and patients with COPD. In conclusion, a substantial part of patients with COPD or ACOS showed reversibility to salbutamol dry powder inhaler. Nonreversible patients with COPD were characterized by higher

  17. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

    PubMed

    Portnoï, Marie-France; Lebas, Fanny; Gruchy, Nicolas; Ardalan, Azarnouche; Biran-Mucignat, Valérie; Malan, Valérie; Finkel, Lina; Roger, Gilles; Ducrocq, Sarah; Gold, Francis; Taillemite, Jean-Louis; Marlin, Sandrine

    2005-08-15

    Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by interphase FISH and could have escaped identification and been missed by routine cytogenetic analysis. Here we report on two inherited cases, referred to us, to rule out 22q11 microdeletion diagnosis of VCFS. The first patient was a 2-month-old girl, who presented with cleft palate, minor dysmorphic features including short palpebral fissures, widely spaced eyes, long fingers, and hearing loss. Her affected mother had mild mental retardation and learning disabilities. The second patient was a 7(1/2)-year-old boy with velopharyngeal insufficiency and mild developmental delay. He had a left preauricular tag, bifida uvula, bilateral fifth finger clinodactyly, and bilateral cryptorchidism. His facial features appeared mildly dysmorphic with hypertelorism, large nose, and micro/retrognathia. The affected father had mild mental retardation and had similar facial features. FISH analysis of interphase cells showed three TUPLE1-probe signals with two chromosome-specific identification probes in each cell. FISH analysis did not show the duplication on the initial testing of metaphase chromosomes. On review, band q11.2 was brighter on one chromosome 22 in some metaphase spreads. The paucity of reported cases of 22q11.2 microduplication likely reflects a combination of phenotypic diversity and the difficulty of diagnosis by FISH analysis on metaphase spreads. These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders. PMID:16007629

  18. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi–Goutières and Singleton–Merten syndromes

    PubMed Central

    Bursztejn, A.-C.; Briggs, T.A.; del Toro Duany, Y.; Anderson, B.H.; O’Sullivan, J.; Williams, S.G.; Bodemer, C.; Fraitag, S.; Gebhard, F.; Leheup, B.; Lemelle, I.; Oojageer, A.; Raffo, E.; Schmitt, E.; Rice, G.I.; Hur, S.; Crow, Y.J.

    2016-01-01

    Summary Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi–Goutières syndrome. To date, seven genes related to Aicardi–Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I interferon signalling secondary to gain-of-function mutations in IFIH1 can result in a range of neuroinflammatory phenotypes including classical Aicardi–Goutières syndrome. It is of note that none of the patients with a neurological phenotype so far described with mutations in this gene was reported to demonstrate cutaneous involvement. We present a family segregating a heterozygous pathogenic mutation in IFIH1 showing dermatological involvement as a prominent feature, variably associated with neurological disturbance and premature tooth loss. All three affected individuals exhibited increased expression of interferon-stimulated genes in whole blood, and the mutant protein resulted in enhanced interferon signalling in vitro, both in the basal state and following ligand stimulation. Our results further extend the phenotypic spectrum associated with mutations in IFIH1, indicating that the disease can be confined predominantly to the skin, while also highlighting phenotypic overlap with both Aicardi–Goutières syndrome and Singleton–Merten syndrome. PMID:26284909

  19. Comparison of pulmonary function in patients with COPD, asthma-COPD overlap syndrome, and asthma with airflow limitation

    PubMed Central

    Kitaguchi, Yoshiaki; Yasuo, Masanori; Hanaoka, Masayuki

    2016-01-01

    Background This study was conducted in order to investigate the differences in the respiratory physiology of patients with chronic obstructive pulmonary disease (COPD), asthma-COPD overlap syndrome (ACOS), and asthma with airflow limitation (asthma FL+). Methods The medical records for a series of all stable patients with persistent airflow limitation due to COPD, ACOS, or asthma were retrospectively reviewed and divided into the COPD group (n=118), the ACOS group (n=32), and the asthma FL+ group (n=27). All the patients underwent chest high-resolution computed tomography (HRCT) and pulmonary function tests, including respiratory impedance. Results The low attenuation area score on chest HRCT was significantly higher in the COPD group than in the ACOS group (9.52±0.76 vs 5.09±1.16, P<0.01). The prevalence of bronchial wall thickening on chest HRCT was significantly higher in the asthma FL+ group than in the COPD group (55.6% vs 25.0%, P<0.01). In pulmonary function, forced expiratory volume in 1 second (FEV1) and peak expiratory flow rate were significantly higher in the asthma FL+ group than in the ACOS group (76.28%±2.54% predicted vs 63.43%±3.22% predicted, P<0.05 and 74.40%±3.16% predicted vs 61.08%±3.54% predicted, P<0.05, respectively). Although residual volume was significantly lower in the asthma FL+ group than in the COPD group (112.05%±4.34% predicted vs 137.38%±3.43% predicted, P<0.01) and the ACOS group (112.05%±4.34% predicted vs148.46%±6.25% predicted, P<0.01), there were no significant differences in functional residual capacity or total lung capacity. The increase in FEV1 in response to short-acting β2-agonists was significantly greater in the ACOS group than in the COPD group (229±29 mL vs 72±10 mL, P<0.01) and the asthma FL+ group (229±29 mL vs 153±21 mL, P<0.05). Regarding respiratory impedance, resistance at 5 Hz and resistance at 20 Hz, which are oscillatory parameters of respiratory resistance, were significantly higher in the

  20. AB031. Validation of claims approach to identify asthma and COPD overlap syndrome patients in the United States

    PubMed Central

    Ding, Bo; De Pietro, Michael; Wu, Bingcao; Tunceli, Ozgur; Turner, Ralph

    2016-01-01

    Background With the increasing recognition of asthma and chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) and its significant disease and economic burden, knowledge about real-world patient characteristics and how they are treated is needed to aid in better understanding this phenotype. However, ACOS patient identification is challenging. Currently, there is no validated claims-based ACOS patient selection algorithm available to assist this type of research. To assess the validity of a retrospective claims-based algorithm to identify high likelihood ACOS patients using patient medical records as the criterion. Methods Patients were identified from the US based HealthCore Integrated Research Database (HIRD) between January 1, 2006 and October 31, 2014. A claims-based algorithm to identify high likelihood ACOS patients was based on the following inclusion criteria: age ≥40 years, ≥2 ICD-9 diagnoses (≥30 days apart) for asthma, (ICD-9 CM: 493.xx), ≥2 diagnoses (≥30 days apart) for COPD (ICD-9 CM: 491.xx, 492.xx, and 496.xx), ≥2 ICD-9 procedure, Current Procedural Terminology (CPT), or Healthcare Common Procedure Coding System (HCPCS) codes (≥30 days apart) for COPD-related procedures, ≥3 prescription fills (≥30 days apart) for asthma/COPD medication, and ≥2 CPT codes for spirometry test. Patients were indexed on the earliest date when all of the inclusion criteria were met. Patients diagnosed with cancer (ICD-9 CM: 140.xx–209.3x, 230.xx–234.xx) during the 12-month pre-index period were excluded. Outpatient medical records closest to (before or after) the index date were abstracted. Based on the chart review, at least 2 features (positive history of allergic rhinitis, chronic sinusitis, eczema, positive skin test to environmental allergens or desensitization to environmental allergens, diagnosis of asthma or past medical history for asthma before 40 years of age, or family history of asthma) were needed to confirm the asthma

  1. Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome

    PubMed Central

    Spengler, S.; Oehl-Jaschkowitz, B.; Begemann, M.; Hennes, P.; Zerres, K.; Eggermann, T.

    2013-01-01

    Microdeletions in 16q24.3 are associated with intellectual disability and a specific phenotype, e.g. short stature and a prominent forehead. The 16q24.3 microdeletion syndrome shows a broad phenotypic overlap with the KBG syndrome, which is caused by mutations within the ANKRD11 gene. Furthermore, both KBG and the 16q24.3 microdeletion syndromes show clinical findings reminiscent of Silver-Russell syndrome (SRS), an imprinting disorder characterized by severe primordial growth retardation. In a cohort of patients referred as SRS, we previously identified a 16q24.3 deletion, but at that time, only patients with larger imbalances in 16q24.3 and intellectual disability had been published. Considering the recent description of the ANKRD11 gene as the causative factor for the 2 16q24.3-associated disorders, we now classified our patient as a 16q24.3 microdeletion syndrome patient exhibiting some characteristic features but normal intelligence. Our case illustrates the broad clinical spectrum associated with microdeletions, and we confirm that the 16q24.3 microdeletion syndrome is a further microdeletion syndrome with very variable expressivity. Indeed, our case is the first 16q24.3 patient of normal intelligence, but we assume that this variant is present in further mentally healthy probands which have not yet been tested. In conclusion, the detection of the 16q24.3 deletion in a proband of unremarkable intellectual capacities once again illustrates the need to perform molecular karyotyping in dysmorphic patients with normal intelligence. PMID:23885231

  2. Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

    PubMed

    Spengler, S; Oehl-Jaschkowitz, B; Begemann, M; Hennes, P; Zerres, K; Eggermann, T

    2013-06-01

    Microdeletions in 16q24.3 are associated with intellectual disability and a specific phenotype, e.g. short stature and a prominent forehead. The 16q24.3 microdeletion syndrome shows a broad phenotypic overlap with the KBG syndrome, which is caused by mutations within the ANKRD11 gene. Furthermore, both KBG and the 16q24.3 microdeletion syndromes show clinical findings reminiscent of Silver-Russell syndrome (SRS), an imprinting disorder characterized by severe primordial growth retardation. In a cohort of patients referred as SRS, we previously identified a 16q24.3 deletion, but at that time, only patients with larger imbalances in 16q24.3 and intellectual disability had been published. Considering the recent description of the ANKRD11 gene as the causative factor for the 2 16q24.3-associated disorders, we now classified our patient as a 16q24.3 microdeletion syndrome patient exhibiting some characteristic features but normal intelligence. Our case illustrates the broad clinical spectrum associated with microdeletions, and we confirm that the 16q24.3 microdeletion syndrome is a further microdeletion syndrome with very variable expressivity. Indeed, our case is the first 16q24.3 patient of normal intelligence, but we assume that this variant is present in further mentally healthy probands which have not yet been tested. In conclusion, the detection of the 16q24.3 deletion in a proband of unremarkable intellectual capacities once again illustrates the need to perform molecular karyotyping in dysmorphic patients with normal intelligence. PMID:23885231

  3. Asthma-COPD Overlap Syndrome (ACOS): Single disease entity or not? Could exhaled nitric oxide be a useful biomarker for the differentiation of ACOS, asthma and COPD?

    PubMed

    Karampitsakos, Theodoros; Gourgoulianis, Konstantinos I

    2016-06-01

    Asthma and chronic obstructive pulmonary disease (COPD) represent two major public health problems. However, there is a significant proportion of patients with a mixed asthma-COPD phenotype. This condition is defined as asthma-COPD overlap syndrome (ACOS). Since there are no internationally accepted criteria for the diagnosis of that syndrome, its management remains difficult. Given the fact that patients with ACOS have an increased risk of exacerbation and hospitalization, there is a pressing need for a more targeted approach and better management. We propose that fractional exhaled nitric oxide (FeNO), a marker of eosinophilic inflammation, could help clinicians differentiate ACOS from asthma and COPD. We evaluate this hypothesis, using data derived from the existing literature. PMID:27142135

  4. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

    PubMed

    Emmanuele, Valentina; Silvers, David S; Sotiriou, Evangelia; Tanji, Kurenai; DiMauro, Salvatore; Hirano, Michio

    2011-09-01

    A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome. PMID:21996807

  5. Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills

    ERIC Educational Resources Information Center

    Sumner, Emma; Leonard, Hayley C.; Hill, Elisabeth L.

    2016-01-01

    Motor and social difficulties are often found in children with an autism spectrum disorder (ASD) and with developmental coordination disorder (DCD), to varying degrees. This study investigated the extent of overlap of these problems in children aged 7-10 years who had a diagnosis of either ASD or DCD, compared to typically-developing controls.…

  6. Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

    PubMed

    Backeljauw, Philippe F; Bondy, Carolyn; Chernausek, Steven D; Cernich, Joseph T; Cole, David A; Fasciano, Laura P; Foodim, Joan; Hawley, Scott; Hong, David S; Knickmeyer, Rebecca C; Kruszka, Paul; Lin, Angela E; Lippe, Barbara M; Lorigan, Gary A; Maslen, Cheryl L; Mauras, Nelly; Page, David C; Pemberton, Victoria L; Prakash, Siddharth K; Quigley, Charmian A; Ranallo, Kelly C; Reiss, Allan L; Sandberg, David E; Scurlock, Cindy; Silberbach, Michael

    2015-09-01

    Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population. PMID:25920614

  7. Reverse genetic manipulation of the overlapping coding regions for structural proteins of the type II porcine reproductive and respiratory syndrome virus.

    PubMed

    Yu, Dandan; Lv, Jian; Sun, Zhi; Zheng, Haihong; Lu, Jiaqi; Yuan, Shishan

    2009-01-01

    The overlapping genomic regions coding for structural proteins of porcine reproductive and respiratory syndrome virus (PRRSV) poses problems for molecular dissection of the virus replication process. We constructed five mutant full-length cDNA clones with the overlapping regions unwound and 1 to 3 restriction sites inserted between two adjacent ORFs (ORF1/2, ORF4/5, ORF5/6, ORF 6/7 and ORF7/3' UTR), which generated the recombinant viruses. Our findings demonstrated that 1) the overlapping structural protein ORFs can be physically separated, and is dispensable for virus viability; 2) such ORF separations did not interrupt the subgenomic RNA synthesis; 3) the plaque morphology, growth kinetics, and antigenicity of these mutant viruses were virtually indistinguishable from those of the parental virus in cultured cells; and 4) these mutant viruses remained genetic stable in vitro. This study lays a foundation for further molecular dissection of PRRSV replication process, and development of genetically tagged vaccines against PRRS. PMID:18977502

  8. Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills.

    PubMed

    Sumner, Emma; Leonard, Hayley C; Hill, Elisabeth L

    2016-08-01

    Motor and social difficulties are often found in children with an autism spectrum disorder (ASD) and with developmental coordination disorder (DCD), to varying degrees. This study investigated the extent of overlap of these problems in children aged 7-10 years who had a diagnosis of either ASD or DCD, compared to typically-developing controls. Children completed motor and face processing assessments. Parents completed questionnaires concerning their child's early motor and current motor and social skills. There was considerable overlap between the ASD and DCD groups on the motor and social assessments, with both groups more impaired than controls. Furthermore, motor skill predicted social functioning for both groups. Future research should consider the relationships between core symptoms and their consequences in other domains. PMID:27126816

  9. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.

    PubMed

    Dipti, Subrahmanian; Childs, Anne-Marie; Livingston, John H; Aggarwal, A K; Miller, Mike; Williams, Chris; Crow, Yanick J

    2005-09-01

    We report four siblings showing features of a pontobulbar palsy, a mixed spinal and upper motor neuropathy and variable deafness. The observation of affected males and females born to consanguineous first cousin parents suggests autosomal recessive inheritance. Two children presented in the first 16 months of life with stridor and died of respiratory failure by the age of 2 years. Hearing loss was not apparent in these infants. In contrast, 2 further siblings developed a bulbar palsy in their sixth year followed by the onset of deafness and features of an anterior horn neuropathy with corticospinal tract involvement. They exhibited a relatively slow but relentless decline over a period of several years. These cases highlight the phenotypic overlap of Brown-Vialetto-Van Laere syndrome with Fazio-Londe disease. Rather than representing two separate disorders, our findings suggest the possibility of a single disease entity which may usefully be considered a form of juvenile amyotrophic lateral sclerosis. PMID:16122634

  10. Cullen Sign and Grey Turner Sign Revisited.

    PubMed

    Wright, William F

    2016-06-01

    Cullen sign and Grey Turner sign, named after Thomas Stephen Cullen, MB, and George Grey Turner, MBBS, respectively, are signs of abdominal wall hemorrhage and are generally associated with acute pancreatitis. However, the research from which these signs arose was documented long before Cullen and Grey Turner made their contributions. The present article examines the history, pathologic mechanisms, and clinical application of these signs in relation to acute pancreatitis and ectopic pregnancy. PMID:27214777

  11. Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.

    PubMed

    Alimi, Adebisi; Weeth-Feinstein, Lauren A; Stettner, Amy; Caldera, Freddy; Weiss, Jennifer M

    2015-06-01

    We describe a patient with a severe juvenile polyposis phenotype, due to a de novo deletion of chromosome 10q22.3-q24.1. He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps. He then re-presented at 23 years with recurrent hematochezia from juvenile polyps in his ileoanal pouch. He is one of the earliest reported cases of JPS associated with a large deletion of chromosome 10. Since his initial diagnosis of JPS further studies have confirmed an association between JPS and mutations in BMPR1A in chromosome band 10q23.2, which is in close proximity to PTEN. Mutations in PTEN cause Cowden syndrome (CS) and other PTEN hamartoma tumor syndromes. Due to the chromosome 10 deletion involving contiguous portions of BMPR1A and PTEN in our patient, he may be at risk for CS associated cancers and features, in addition to the polyps associated with JPS. This case presents new challenges in developing appropriate surveillance algorithms to account for the risks associated with each syndrome and highlights the importance of longitudinal follow-up and transitional care between pediatric and adult gastroenterology for patients with hereditary polyposis syndromes. PMID:25846706

  12. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

    PubMed

    Linhares, Natália Duarte; Freire, Maíra Cristina Menezes; Cardenas, Raony Guimarães Corrêa do Carmo Lisboa; Pena, Heloisa Barbosa; Lachlan, Katherine; Dallapiccola, Bruno; Bacino, Carlos; Delobel, Bruno; James, Paul; Thuresson, Ann-Charlotte; Annerén, Göran; Pena, Sérgio D J

    2016-08-01

    Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients. PMID:27494202

  13. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

    PubMed

    Linhares, Natália Duarte; Freire, Maíra Cristina Menezes; Cardenas, Raony Guimarães Corrêa do Carmo Lisboa; Pena, Heloisa Barbosa; Lachlan, Katherine; Dallapiccola, Bruno; Bacino, Carlos; Delobel, Bruno; James, Paul; Thuresson, Ann-Charlotte; Annerén, Göran; Pena, Sérgio D J

    2016-01-01

    Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients. PMID:27561113

  14. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

    PubMed Central

    Linhares, Natália Duarte; Freire, Maíra Cristina Menezes; Cardenas, Raony Guimarães Corrêa do Carmo Lisboa; Pena, Heloisa Barbosa; Lachlan, Katherine; Dallapiccola, Bruno; Bacino, Carlos; Delobel, Bruno; James, Paul; Thuresson, Ann-Charlotte; Annerén, Göran; Pena, Sérgio D. J.

    2016-01-01

    Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients. PMID:27561113

  15. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

    PubMed

    Woods, Susan A; Robinson, Haynes B; Kohler, Lisa J; Agamanolis, Dimitris; Sterbenz, George; Khalifa, Mohamed

    2014-01-01

    Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS. A diagnosis of RTS or CdLS is molecularly confirmed in only 65% of clinically identified cases, suggesting that additional causative genes exist for both conditions. In addition, although EP300 and CREBBP encode homologous proteins and perform similar functions, only eight EP300 positive RTS patients have been reported, suggesting that patients with EP300 mutations might be escaping clinical recognition. We report on a child with multiple congenital abnormalities and intellectual disability whose facial features and complex phenotype resemble CdLS. However, no mutations in CdLS-related genes were identified. Rather, a novel EP300 mutation was found on whole exome sequencing. Possible links between EP300 and genes causing CdLS are evident in the literature. Both EP300 and HDAC8 are involved in the regulation of TP53 transcriptional activity. In addition, p300 and other chromatin associated proteins, including NIPBL, SMCA1, and SMC3, have been found at enhancer regions in different cell types. It is therefore possible that EP300 and CdLS-related genes are involved in additional shared pathways, producing overlapping phenotypes. As whole exome sequencing becomes more widely utilized, the diverse phenotypes associated with EP300 mutations should be better understood. In the meantime, testing for EP300 mutations in those with features of CdLS may be warranted. PMID:24352918

  16. What Are Common Treatments for Turner Syndrome?

    MedlinePlus

    ... NICHD Research Information Research Goals Activities and Advances Scientific Articles Staff Contacts Clinical Trials Resources and Publications For Patients and Consumers For Researchers and Health ...

  17. Turner Syndrome: A Guide for Families

    MedlinePlus

    ... dysgenesis) of the ovaries (female organs that store eggs and produce sex hormones; also known as gonads ), ... another. The reproductive cells (sperm in men and eggs/ova in women) contain only 23 chromosomes, one ...

  18. Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed through Electroencephalography—What Can be Interpreted from the Available Information?

    PubMed Central

    Mc Devitt, Niamh; Gallagher, Louise; Reilly, Richard B.

    2015-01-01

    Autism Spectrum Disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with both rare and common genetic risk factors and likely genetic and environmental interaction effects. A comparison of the phenotypic presentation of the two disorders may highlight those symptoms that are more likely to be under direct genetic control, for example in FXS as opposed to shared symptoms that are likely to be under the control of multiple mechanisms. This review is focused on the application and analysis of electroencephalography data (EEG) in ASD and FXS. Specifically, Event Related Potentials (ERP) and resting state studies (rEEG) studies investigating ASD and FXS cohorts are compared. This review explores the electrophysiological similarities and differences between the two disorders in addition to the potentially associated neurobiological mechanisms at play. A series of pertinent research questions which are suggested in the literature are also posed within the review. PMID:25826237

  19. Effect of chromosome constitution variations on the expression of Turner phenotype.

    PubMed

    Bispo, A V S; Dos Santos, L O; Burégio-Frota, P; Galdino, M B; Duarte, A R; Leal, G F; Araújo, J; Gomes, B; Soares-Ventura, E M; Muniz, M T C; Santos, N

    2013-01-01

    Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis. Additionally, we found rare genetic and phenotypic abnormalities associated with this syndrome. To the best of our knowledge, this is the first case of 45,X,t(11;12)(q22;q22) described as a TS karyotype. Turner patients usually have normal intelligence; however, moderate to severe levels of mental retardation were found in 5 TS cases, which is considerate a very uncommon feature in this syndrome. PMID:23546984

  20. Proceedings From the Turner Resource Network Symposium: The Crossroads of Health Care Research and Health Care Delivery

    PubMed Central

    Backeljauw, Philippe F.; Bondy, Carolyn; Chernausek, Steven D.; Cernich, Joseph T.; Cole, David A.; Fasciano, Laura P.; Foodim, Joan; Hawley, Scott; Hong, David S.; Knickmeyer, Rebecca C.; Kruszka, Paul; Lin, Angela E.; Lippe, Barbara M.; Lorigan, Gary A.; Maslen, Cheryl L.; Mauras, Nelly; Page, David C.; Pemberton, Victoria L.; Prakash, Siddharth K.; Quigley, Charmian A.; Ranallo, Kelly C.; Reiss, Allan L.; Sandberg, David E.; Scurlock, Cindy; Silberbach, Michael

    2016-01-01

    Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural “Turner Resource Network (TRN) Symposium” brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome;investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population. PMID:25920614

  1. Overlap between differentially methylated DNA regions in blood B lymphocytes and genetic at-risk loci in primary Sjögren's syndrome

    PubMed Central

    Miceli-Richard, Corinne; Wang-Renault, Shu-Fang; Boudaoud, Saida; Busato, Florence; Lallemand, Céline; Bethune, Kevin; Belkhir, Rakiba; Nocturne, Gaétane; Mariette, Xavier; Tost, Jörg

    2016-01-01

    Background Beyond genetics, epigenetics alterations and especially those related to DNA methylation, play key roles in the pathogenesis of autoimmune diseases such as primary Sjögren's syndrome (pSS) and systemic lupus erythematosus. This study aimed to assess the role of methylation deregulation in pSS pathogeny through a genome-wide methylation approach. Patients and methods 26 female patients with pSS and 22 age-matched controls were included in this study. CD4+ T cells and CD19+ B cells were isolated from peripheral blood mononuclear cells by magnetic microbeads and their genome-wide DNA methylation profiles were analysed using Infinium Human Methylation 450 K BeadChips. Probes with a median DNA methylation difference of at least 7% and p<0.01 between patients and controls were considered significantly differentially methylated. Results Methylation alterations were mainly present in B cells compared with T cells. In B cells, an enrichment of genes with differentially methylated probes in genetic at-risk loci was observed, suggesting involvement of both genetic and epigenetic abnormalities in the same genes. Methylation alterations in B cells were more frequent in some specific pathways including Interferon Regulated Genes, mainly among patients who were autoantibody positive. Moreover, genes with differentially methylated probes were over-represented in B cells from patients with active disease. Conclusions This study demonstrated more important deregulation of DNA methylation patterns in B cells compared with T cells, emphasising the importance of B cells in the pathogenesis of the disease. Overlap between genes with differentially methylated probes in B lymphocytes and genetic at-risk loci is a new finding highlighting their importance in pSS. PMID:26183421

  2. Differences in the effects of Asian dust on pulmonary function between adult patients with asthma and those with asthma–chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Watanabe, Masanari; Noma, Hisashi; Kurai, Jun; Sano, Hiroyuki; Ueda, Yasuto; Mikami, Masaaki; Yamamoto, Hiroyuki; Tokuyasu, Hirokazu; Kato, Kazuhiro; Konishi, Tatsuya; Tatsukawa, Toshiyuki; Shimizu, Eiji; Kitano, Hiroya

    2016-01-01

    Background Asian dust (AD) exposure exacerbates pulmonary dysfunction in patients with asthma. Asthma–chronic obstructive pulmonary disease overlap syndrome (ACOS), characterized by coexisting symptoms of asthma and chronic obstructive pulmonary disease, is considered a separate disease entity. Previously, we investigated the effects of AD on pulmonary function in adult patients with asthma. Here, we present the findings of our further research on the differences in the effects of AD exposure on pulmonary function between patients with asthma alone and those with ACOS. Methods Between March and May 2012, we conducted a panel study wherein we monitored daily peak expiratory flow (PEF) values in 231 adult patients with asthma. These patients were divided into 190 patients with asthma alone and 41 patients with ACOS in this study. Daily AD particle levels were measured using light detection and ranging systems. Two heavy AD days (April 23 and 24) were determined according to the Japan Meteorological Agency definition. A linear mixed model was used to estimate the association between PEF and AD exposure. Results Increments in the interquartile range of AD particles (0.018 km−1) led to PEF changes of −0.50 L/min (95% confidence interval, −0.98 to −0.02) in patients with asthma alone and −0.11 L/min (−0.11 to 0.85) in patients with ACOS. The PEF changes after exposure to heavy AD were −2.21 L/min (−4.28 to −0.15) in patients with asthma alone and −2.76 L/min (−6.86 to 1.35) in patients with ACOS. In patients with asthma alone, the highest decrease in PEF values was observed on the heavy AD day, with a subsequent gradual increase over time. Conclusion Our results suggest that the effects of AD exposure on pulmonary function differ between patients with asthma alone and ACOS, with the former exhibiting a greater likelihood of decreased pulmonary function after AD exposure. PMID:26869784

  3. Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

    SciTech Connect

    Tarim, O.; Lieber, E. |

    1994-09-01

    A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

  4. Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

    SciTech Connect

    Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F.

    1996-03-01

    We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

  5. An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: a case report with review.

    PubMed

    Musarella, M A; Verma, R S

    2001-01-01

    We report on a case of double aneuploidy involving Down and Turner cell lines in a female child with a massive capillary hemangioma of the left orbit and mild clinical features of Down syndrome. Cytogenetic findings with G-banding revealed mosaicism in her peripheral blood, i.e. mos45,X[48]/47,XX,+21[28]/46,XX[12/47,XXX[12]. Mosaicism of such nature is rare and to our knowledge the present case is the first reported of Turner-Down double aneuploidy mosaicism associated with an orbital capillary hemangioma. An annotated bibliography of earlier reported cases with documented karyotyping is also included. PMID:11522243

  6. The Schmidt-Czerny-Turner spectrograph

    NASA Astrophysics Data System (ADS)

    McClure, Jason P.

    2014-09-01

    Since the invention of the CCD detector in 1969 by George Smith and Willard Boyle, incremental innovations to the dispersive imaging spectrograph have slowly materialized in response the abounding advances in CCD detector technology. The modern Czerny-Turner type spectrograph, arguably the most commonly used instrument in optical spectroscopy, fails to uphold the ever increasing needs today's researchers demand, let alone tomorrow's. This paper discusses an innovative solution to the Czerny-Turner imaging spectrograph bridging a more than 20 year gap in development and understanding. A manifold of techniques in optical spectroscopy both advantaged and enabled by this innovation are expounded upon.

  7. Overlap in Bibliographic Databases.

    ERIC Educational Resources Information Center

    Hood, William W.; Wilson, Concepcion S.

    2003-01-01

    Examines the topic of Fuzzy Set Theory to determine the overlap of coverage in bibliographic databases. Highlights include examples of comparisons of database coverage; frequency distribution of the degree of overlap; records with maximum overlap; records unique to one database; intra-database duplicates; and overlap in the top ten databases.…

  8. Clinical Syndromes among the Learning Disabled.

    ERIC Educational Resources Information Center

    Lewandowski, Lawrence J.

    1985-01-01

    Four physiological conditions associated with later learning disabilities are noted: Turner Syndrome (a chromosomal abnormality), preterm children with intracranial hemorrhage, children with incompletely developed connecting fibers between the cerebral hemispheres, and children with acquired brain injury. (CL)

  9. Do you know this syndrome? Noonan syndrome.

    PubMed

    Kondo, Rogerio Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

  10. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

    PubMed

    Harel, Tamar; Rabinowitz, Ronen; Hendler, Netta; Galil, Aharon; Flusser, Hagit; Chemke, Juan; Gradstein, Libe; Lifshitz, Tova; Ofir, Rivka; Elbedour, Khalil; Birk, Ohad S

    2005-01-01

    Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis. Homozygosity of a mutation in the COL11A2 gene was found in all affected individuals. This finding lends molecular support to the clinical notion that autosomal recessive WZS and OSMED are a single entity. PMID:15558753

  11. Noonan's Syndrome and Autoimmune Thyroiditis

    ERIC Educational Resources Information Center

    Vesterhus, Per; Aarskog, Dagfinn

    1973-01-01

    Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

  12. Detour behaviour in attack-trained dogs: left-turners perform better than right-turners.

    PubMed

    Siniscalchi, Marcello; Pergola, Gianluca; Quaranta, Angelo

    2013-01-01

    Detour behaviour was investigated in attack-trained dogs faced with a "U"-shaped vertical barrier behind which a figurant (target) was located. Left-turners took less time to detour the barrier than right-turners. The most logical explanation for the lateral asymmetries observed in dogs' detour behaviour is to assume that they reflect preferential use of the right or the left eye in visual analysis of the target. Given that the lateral field of each eye of dogs projects mainly to the contralateral side of the brain, shorter latencies to solve the task observed in left-turners (right visual hemifield) with respect to right-turners (left visual hemifield) are consistent with specialisation of the left hemisphere in prey-catching behaviour. Overall our results supported previous evidence that cerebral lateralisation in vertebrates can directly affect visually guided motor responses and have practical implications for personnel involved in the selection of dogs trained specifically to assist police and other law-enforcement personnel in their work. PMID:22713109

  13. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

    PubMed

    Fregeau, Brieana; Kim, Bum Jun; Hernández-García, Andrés; Jordan, Valerie K; Cho, Megan T; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rosenfeld, Jill A; Bhoj, Elizabeth; Zackai, Elaine H; Sacharow, Stephanie; Barañano, Kristin; Bosch, Daniëlle G M; de Vries, Bert B A; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R; van Haelst, Mieke M; van Gassen, Koen L I; van Binsbergen, Ellen; Barkovich, A James; Scott, Daryl A; Sherr, Elliott H

    2016-05-01

    Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling. Animal models suggest that RERE deficiency might contribute to many of the structural and developmental birth defects and medical problems seen in individuals with 1p36 deletion syndrome, although human evidence supporting this role has been lacking. In this report, we describe ten individuals with intellectual disability, developmental delay, and/or autism spectrum disorder who carry rare and putatively damaging changes in RERE. In all cases in which both parental DNA samples were available, these changes were found to be de novo. Associated features that were recurrently seen in these individuals included hypotonia, seizures, behavioral problems, structural CNS anomalies, ophthalmologic anomalies, congenital heart defects, and genitourinary abnormalities. The spectrum of defects documented in these individuals is similar to that of a cohort of 31 individuals with isolated 1p36 deletions that include RERE and are recapitulated in RERE-deficient zebrafish and mice. Taken together, our findings suggest that mutations in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions. PMID:27087320

  14. Mathematical Learning Disabilities in Children with 22q11.2 Deletion Syndrome: A Review

    ERIC Educational Resources Information Center

    De Smedt, Bert; Swillen, Ann; Verschaffel, Lieven; Ghesquiere, Pol

    2009-01-01

    Mathematical learning disabilities (MLD) occur frequently in children with specific genetic disorders, like Turner syndrome, fragile X syndrome and neurofibromatosis. This review focuses on MLD in children with chromosome 22q11.2 deletion syndrome (22q11DS). This syndrome is the most common known microdeletion syndrome with a prevalence of at…

  15. Turner's tooth with unique radiographic presentation: a case report.

    PubMed

    Lakshman, Anusha Rangare; Kanneppady, Sham Kishor; Castelino, Renita Lorina

    2014-01-01

    Hypoplasia--the result of a disruption in the enamel matrix formation process--causes a defect in the quality and thickness of enamel. Enamel formation is a complex and highly regulated process. Enamel defects have been associated with a broad spectrum of etiologies, including genetic, epigenetic, systemic, local, and environmental factors. An enamel defect in the permanent teeth caused by periapical inflammatory disease in the overlying primary tooth is referred to as Turner's tooth (also known as Turner's hypoplasia). This article presents a case of Turner's hypoplasia of the first mandibular premolar, with an unusual radiographic presentation. PMID:25184717

  16. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

    PubMed

    Ogata, Tsutomu; Muroya, Koji; Sasaki, Goro; Nishimura, Gen; Kitoh, Hiroshi; Hattori, Tadashi

    2002-03-01

    We report on clinical and molecular findings in a Japanese family consisting of a male infant with SHOX nullizygosity and his four family members with SHOX haploinsufficiency. The male infant had Langer mesomelic dysplasia, the prepubertal sister had idiopathic short stature phenotype with no discernible skeletal features, the father had mild Léri-Weill dyschondrosteosis (LWDC), and the mother and the maternal grandmother had moderate LWDC. The five subjects lacked clinically recognizable short metacarpals, cubitus valgus, high arched palate, short neck, and micrognathia, as well as recurrent otitis media and hearing loss. Fluorescence in situ hybridization and sequence analyses showed that the proband had a pseudoautosomal microdeletion involving SHOX and a C502T missense mutation in the homeobox domain at exon 4, and that the father was heterozygous for the SHOX deletion, and the sister, the mother, and the grandmother were heterozygous for the C502T mutation. The results, in conjunction with the previous findings, suggest that mesomelic skeletal features such as Langer mesomelic dysplasia and LWDC, which are absent or rare in Turner syndrome, are primarily caused by the SHOX dosage effect and the bone maturing effect of gonadal estrogens, whereas other skeletal features such as short metacarpals, cubitus valgus, and various craniofacial and cervical skeletal stigmata, which are common in Turner syndrome, are largely contributed by a compressive effect of distended lymphatics and lymphedema on the developing skeletal tissues. PMID:11889214

  17. Do you know this syndrome?*

    PubMed Central

    Kondo, Rogerio Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

  18. An unusual cause of Grey Turner's sign.

    PubMed

    Gosling, Oliver Burton; Hunter, Alison Emma; Edwards, Gray Alexander Dyfan; Squires, Benjamin

    2013-01-01

    A woman in her late 70s presented to the acute general surgical take with a 3-day history of worsening right leg pain and swelling. She had undergone right revision total hip arthroplasty 20 months previously and reported chronic postoperative right thigh pain attributed to a femoral deep venous thrombosis for which she had been warfarinised. On examination, Grey Turner's sign (bruising of the flanks indicating retroperitoneal haemorrhage) was present, as well as a large tender mass in the right iliac fossa and pitting oedema throughout the right lower limb. Urgent CT scan with intravenous contrast revealed a right retroperitoneal haematoma secondary to a right acetabular screw protruding into the right external iliac vein. The patient was successfully managed with warfarin reversal and surgical removal of the relevant acetabular screw. At 2-month follow-up, the patient's symptoms continue to resolve. PMID:23682085

  19. Peter J Turner: an inventive optometrist.

    PubMed

    Frederikson, Lesley G; Jacobs, Robert J

    2007-11-01

    Machines are Peter Turner's life. They always have been, are now and probably always will be. He can blame his parents for this because despite urging Peter to become an optometrist they gave him inventive genes, a love of technology and holiday work in a factory fitting and turning, and welding. In the 30 years since completing his State Diploma in Optics in New Zealand (SDONZ), Peter has designed and developed three key pieces of optical equipment: a Sun-Following Radio Telescope, a CCTV read/write system and the Berkeley Glare & Acuity Test (BEGAT). He has also completed myriad technological innovations for friends and family ranging from a motorised chair and stand unit for optometric rooms to components for venetian blind manufacturing. PMID:17958574

  20. 3. Historic American Buildings Survey Philip Turner, Photographer Summer 1967 ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    3. Historic American Buildings Survey Philip Turner, Photographer Summer 1967 CARRIAGE HOUSE, SOUTH (FRONT) AND EAST ELEVATIONS - Albert F. Madlener House, 4 West Burton Place, Chicago, Cook County, IL

  1. 2. Historic American Buildings Survey Philip Turner, Photographer Summer 1967 ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    2. Historic American Buildings Survey Philip Turner, Photographer Summer 1967 SOUTH (FRONT) FACADE OF HOUSE AND CARRIAGE HOUSE FROM SOUTHWEST - Albert F. Madlener House, 4 West Burton Place, Chicago, Cook County, IL

  2. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

    PubMed

    Mackenroth, Luisa; Fischer-Zirnsak, Björn; Egerer, Johannes; Hecht, Jochen; Kallinich, Tilmann; Stenzel, Werner; Spors, Birgit; von Moers, Arpad; Mundlos, Stefan; Kornak, Uwe; Gerhold, Kerstin; Horn, Denise

    2016-04-01

    Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are variable genetic disorders that overlap in different ways [Cole 1993; Grahame 1999]. Here, we describe a boy presenting with severe muscular hypotonia, multiple fractures, and joint hyperflexibility, features that are compatible with mild OI and hypermobility type EDS, respectively. By whole exome sequencing, we identified both a COL1A1 mutation (c.4006-1G > A) inherited from the patient's mildly affected mother and biallelic missense variants in TNXB (p.Val1213Ile, p.Gly2592Ser). Analysis of cDNA showed that the COL1A1 splice site mutation led to intron retention causing a frameshift (p.Phe1336Valfs*72). Type 1 collagen secretion by the patient's skin fibroblasts was reduced. Immunostaining of a muscle biopsy obtained from the patient revealed a clear reduction of tenascin-X in the extracellular matrix compared to a healthy control. These findings imply that the combination of the COL1A1 mutation with the TNXB variants might cause the patient's unique phenotype. PMID:26799614

  3. The putative imprinted locus D15S9 within the common deletion region for the Prader-Willi and Angelman syndromes encodes two overlapping mRNAs transcribed from opposite strands

    SciTech Connect

    Glenn, C.C.; Driscoll, D.J.; Saitoh, S.

    1994-09-01

    Prader-Willi syndrome is typically caused by a deletion of paternal 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15, while Angelman syndrome is caused by a maternal deletion or paternal UPD of the same region. Therefore, these two clinically distinct neurobehavioral syndromes result from differential expression of imprinted genes within 15q11-q13. A 3.1 kb cDNA, DN34, from the D15S9 locus within 15q11-q13 was isolated from a human fetal brain library. We showed previously that DN34 probe detects a DNA methylation imprint and therefore may represent a candidate imprinted gene. Isolation of genomic clones and DNA sequencing demonstrated that the gene segment encoding the partial cDNA DN34 was split by a 2 kb intron, but did not encode a substantial open reading frame (ORF). Preliminary analysis of expression by RT-PCR suggests that this gene is expressed in fetal but not in tested tissue types from the adult, and thus its imprinting status has not been possible to assess at present. Surprisingly, we found an ORF on the antisense strand of the DN34 cDNA. This ORF encodes a putative polypeptide of 505 amino acid residues containing a RING C{sub 3}HC{sub 4} zinc-finger motif and other features of nuclear proteins. Subsequent characterization of this gene, ZNF127, and a mouse homolog, demonstrated expression of 3.2 kb transcript from all tested fetal and adult tissues. Transcripts initiate from within a CpG-island, shown to be differentially methylated on parental alleles in the human. Interestingly, functional imprinting of the mouse homolog was subsequently demonstrated in an F{sub 1} cross by analyzing a VNTR polymorphism in the mRNA. The ZNF127 gene is intronless, has significant overlap with the DN34 gene on the antisense strand, and a 1 kb 3{prime} end within the 2 kb DN34 intron.

  4. Illusion induced overlapped optics.

    PubMed

    Zang, XiaoFei; Shi, Cheng; Li, Zhou; Chen, Lin; Cai, Bin; Zhu, YiMing; Zhu, HaiBin

    2014-01-13

    The traditional transformation-based cloak seems like it can only hide objects by bending the incident electromagnetic waves around the hidden region. In this paper, we prove that invisible cloaks can be applied to realize the overlapped optics. No matter how many in-phase point sources are located in the hidden region, all of them can overlap each other (this can be considered as illusion effect), leading to the perfect optical interference effect. In addition, a singular parameter-independent cloak is also designed to obtain quasi-overlapped optics. Even more amazing of overlapped optics is that if N identical separated in-phase point sources covered with the illusion media, the total power outside the transformation region is N2I0 (not NI0) (I0 is the power of just one point source, and N is the number point sources), which seems violating the law of conservation of energy. A theoretical model based on interference effect is proposed to interpret the total power of these two kinds of overlapped optics effects. Our investigation may have wide applications in high power coherent laser beams, and multiple laser diodes, and so on. PMID:24515019

  5. Overlap among Environmental Databases.

    ERIC Educational Resources Information Center

    Miller, Betty

    1981-01-01

    Describes the methodology and results of a study comparing the overlap of Enviroline, Pollution, and the Environmental Periodicals Bibliography files through searches on acid rain, asbestos and water, diesel, glass recycling, Lake Erie, Concorde, reverse osmosis wastewater treatment cost, and Calspan. Nine tables are provided. (RBF)

  6. Torus mandibularis in 45,X females (Turner syndrome).

    PubMed

    Alvesalo, L; Mayhall, J T; Varrela, J

    1996-10-01

    Ninety-three Finnish females with a 45,X chromosome constitution, 78 first-degree female, and 37 first-degree male relatives were examined to determine the frequency and expression of torus mandibularis. The results indicate that among adults the frequency of the trait was significantly lower and the expression weaker in the 45,X females than in male control relatives. A similar trend was observed in comparison to normal females. In juveniles the trend was reversed. Our findings suggest that the sex chromosomes may have an influence on the occurrence, expression, and timing of development of the mandibular torus. Sexual dimorphism in the manifestation of torus mandibularis may result particularly from the effect of the Y chromosome on growth. PMID:8893081

  7. Plasma Inflammatory Cytokine IL-4, IL-8, IL-10, and TNF-α Levels Correlate with Pulmonary Function in Patients with Asthma-Chronic Obstructive Pulmonary Disease (COPD) Overlap Syndrome

    PubMed Central

    Huang, Ai-Xia; Lu, Li-Wen; Liu, Wen-Juan; Huang, Mao

    2016-01-01

    Background The aim of this study was to investigate the plasma inflammatory cytokine levels and their correlations with pulmonary function in patients with asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS). Material/Methods Between January 2013 and December 2014, a total of 96 patients with asthma, acute exacerbation of chronic obstructive pulmonary disease (AECOPD), or ACOS were enrolled, and 35 healthy people were included as a control group. Fasting plasma interleukin (IL)-4, IL-8, IL-10, and tumor necrosis factor alpha (TNF-α) levels were detected using enzyme-linked immunosorbent assay (ELISA). Correlations between the plasma inflammatory cytokine levels and forced expiratory volume in 1 second (FEV1), FEV1/predicted value ratio (FEV1%pred), and FEV1/forced vital capacity (FVC) were analyzed. Results IL-4 and IL-8 levels showed statistically significant differences among the 3 groups of patients (both P<0.001); IL-4 level was significantly lower, while IL-8 level was significantly higher in the AECOPD group and ACOS group than those in the asthma group (all P<0.05). IL-10 level and TNF-α level were significantly different among the 3 patient groups (both P<0.001). IL-10 level was significantly different between each of the 2 groups (all P<0.001). TNF-α level in the asthma group was higher than in the AECOPD group and ACOS group (both P<0.001). IL-4 and IL-10 were positively and IL-8 and TNF-α were negatively related with FEV1, FEV1%pred, and FEV1/FVC. Conclusions Plasma levels of inflammatory cytokines IL-4, IL-8, IL-10, and TNF-α are related with severity of airway diseases and could be potential markers for the evaluation of asthma, COPD, and ACOS. PMID:27501772

  8. HUNTing the Overlap

    SciTech Connect

    Iancu, Costin; Parry, Husbands; Hargrove, Paul

    2005-07-08

    Hiding communication latency is an important optimization for parallel programs. Programmers or compilers achieve this by using non-blocking communication primitives and overlapping communication with computation or other communication operations. Using non-blocking communication raises two issues: performance and programmability. In terms of performance, optimizers need to find a good communication schedule and are sometimes constrained by lack of full application knowledge. In terms of programmability, efficiently managing non-blocking communication can prove cumbersome for complex applications. In this paper we present the design principles of HUNT, a runtime system designed to search and exploit some of the available overlap present at execution time in UPC programs. Using virtual memory support, our runtime implements demand-driven synchronization for data involved in communication operations. It also employs message decomposition and scheduling heuristics to transparently improve the non-blocking behavior of applications. We provide a user level implementation of HUNT on a variety of modern high performance computing systems. Results indicate that our approach is successful in finding some of the overlap available at execution time. While system and application characteristics influence performance, perhaps the determining factor is the time taken by the CPU to execute a signal handler. Demand driven synchronization at execution time eliminates the need for the explicit management of non-blocking communication. Besides increasing programmer productivity, this feature also simplifies compiler analysis for communication optimizations.

  9. Familial deletion of 18p associated with Turner like clinical features

    SciTech Connect

    Say, B.; Gopal Rao, V.V.N.; Harris, S.

    1994-09-01

    The authors report the first occurrence to our knowledge of a familial deletion of the short arm of chromosome 18 in a mother and daughter. The proband is an 18-year-old female referred for chromosomal analysis because of mental retardation and short stature. She is the only offspring. Her birth weight was 3 pounds 10 ounces (below 5th percentile). As a child, she had delayed milestones. Her IQ is 69 and she is in classes for the educable mentally handicapped. Her height is 145.6 cm and weight 38.7 kg (both below 5th percentile). Physical examination revealed a low nuchal hairline. She has myopia. Chromosome analysis from peripheral blood lymphocytes revealed a 46,XX,del(18)(p11.21) karyotype. Since some of the same clinical features are also seen in the mother including short stature (157 cm), mental retardation, ocular problems like cataracts, exotropia and refractive error, chromosome analysis was performed which showed the same 46,XX,del(18)(p11.21) karyotype. A familial case like this has great implications in genetic counseling. Since the syndrome is not associated with sterility, the recurrence risk for the offspring is 50%. Patients with deletion (18p) syndrome are reported to have findings suggestive of Turner syndrome with varying degrees of mental retardation. We recommend that in patients with such clinical features associated with mental retardation, normal menstrual history and/or fertility, the possibility of deletion (18p) syndrome be considered.

  10. Scapular kinematics and muscle performance in a single case of Parsonage-Turner.

    PubMed

    Camargo, Paula R; Zanca, Gisele G; Okino, Patrícia S; Russo, Thiago L; Michener, Lori A

    2014-02-01

    This study characterized the impairments of range of motion, three-dimensional scapulo-thoracic kinematics, isokinetic muscle performance and disability in a patient with Parsonage-Turner Syndrome. The patient had a history of 2.5-years of shoulder pain, and electroneurodiagnostic testing indicative of suprascapular neuropathy. The patient-rated Disabilities of the Arm, Shoulder and Hand (DASH) score was 33.3% (0 = no symptoms/disability), and reduced shoulder internal rotation, external rotation, and flexion as compared bilaterally. There were deficits in isokinetic muscle performance at slow and fast speeds during abduction, lateral and medial rotations as compared to the uninvolved side. Alterations in scapular kinematics were decreased posterior tilt, increased internal rotation, and increased upward rotation during arm elevation and lowering. This information can be used to assist clinicians in developing treatment programs to address the alterations caused by this neuralgic amyotrophy. PMID:23845446

  11. Asthma-chronic obstructive pulmonary disease overlap syndrome in the urban Chinese population: prevalence and disease burden using the 2010, 2012, and 2013 China National Health and Wellness Surveys

    PubMed Central

    Ding, Bo; DiBonaventura, Marco; Karlsson, Niklas; Ling, Xia

    2016-01-01

    Background Research has suggested a significant burden for patients with asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS). However, few studies have studied this population in the People’s Republic of China, a region in the midst of rapid epidemiological change with respect to respiratory disease. The aim of this study was to assess the prevalence of ACOS and its association with patient outcomes in urban China. Methods Data from the 2010, 2012, and 2013 China National Health and Wellness Survey, an Internet-based survey of adults in urban China, were used (N=59,935). Respondents were categorized into one of four groups based on self-reported physician diagnoses: ACOS, asthma only, COPD only, or control (ie, no asthma or COPD). A propensity score matching procedure was conducted to cull the control group into a subgroup (ie, matched controls) who resembled patients with ACOS, asthma only, and COPD only. These four groups (ACOS, asthma only, COPD only, matched controls) were then compared with respect to health status (Short Form-12 version 2/Short Form-36 version 2), work productivity, and health care resource use using generalized linear models. Results Patients with ACOS (N=366) comprised 0.61% of the adult population, 30.73% of the asthma population, and 18.60% of the COPD population in the People’s Republic of China. Patients with ACOS reported significantly worse health status (eg, health utilities =0.63, 0.66, 0.63, and 0.69 for ACOS, COPD only, asthma only, and matched controls, respectively) and significantly greater work impairment (eg, overall work impairment =43.65%, 35.19%, 48.55%, and 29.80%, respectively) and health care resource use (eg, physician visits in the past 6 months =5.13, 3.84, 4.65, and 2.39, respectively) compared with matched controls and patients with COPD only. Few significant differences were observed between patients with ACOS and asthma only. Conclusion Patients with ACOS have a greater comorbidity

  12. Overlap extension PCR cloning.

    PubMed

    Bryksin, Anton; Matsumura, Ichiro

    2013-01-01

    Rising demand for recombinant proteins has motivated the development of efficient and reliable cloning methods. Here we show how a beginner can clone virtually any DNA insert into a plasmid of choice without the use of restriction endonucleases or T4 DNA ligase. Chimeric primers encoding plasmid sequence at the 5' ends and insert sequence at the 3' ends are designed and synthesized. Phusion(®) DNA polymerase is utilized to amplify the desired insert by PCR. The double-stranded product is subsequently employed as a pair of mega-primers in a PCR-like reaction with circular plasmids. The original plasmids are then destroyed in restriction digests with Dpn I. The product of the overlap extension PCR is used to transform competent Escherichia coli cells. Phusion(®) DNA polymerase is used for both the amplification and fusion reactions, so both steps can be monitored and optimized in the same way. PMID:23996437

  13. Arsia Mons Overlapping Flows

    NASA Technical Reports Server (NTRS)

    2005-01-01

    [figure removed for brevity, see original site]

    This VIS image shows overlapping flows with different suface textures. In the middle of the image there is a round, darker feature -- a small volcano. To the left of the volcano a graben cuts across the lava flows.

    Image information: VIS instrument. Latitude -18.5, Longitude 244.5 East (115.5 West). 17 meter/pixel resolution.

    Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.

  14. Overlapping clusters for distributed computation.

    SciTech Connect

    Mirrokni, Vahab; Andersen, Reid; Gleich, David F.

    2010-11-01

    Scalable, distributed algorithms must address communication problems. We investigate overlapping clusters, or vertex partitions that intersect, for graph computations. This setup stores more of the graph than required but then affords the ease of implementation of vertex partitioned algorithms. Our hope is that this technique allows us to reduce communication in a computation on a distributed graph. The motivation above draws on recent work in communication avoiding algorithms. Mohiyuddin et al. (SC09) design a matrix-powers kernel that gives rise to an overlapping partition. Fritzsche et al. (CSC2009) develop an overlapping clustering for a Schwarz method. Both techniques extend an initial partitioning with overlap. Our procedure generates overlap directly. Indeed, Schwarz methods are commonly used to capitalize on overlap. Elsewhere, overlapping communities (Ahn et al, Nature 2009; Mishra et al. WAW2007) are now a popular model of structure in social networks. These have long been studied in statistics (Cole and Wishart, CompJ 1970). We present two types of results: (i) an estimated swapping probability {rho}{infinity}; and (ii) the communication volume of a parallel PageRank solution (link-following {alpha} = 0.85) using an additive Schwarz method. The volume ratio is the amount of extra storage for the overlap (2 means we store the graph twice). Below, as the ratio increases, the swapping probability and PageRank communication volume decreases.

  15. Linkage mapping of a severe X-linked mental retardation syndrome

    SciTech Connect

    Malmgren, H.; Sundvall, M.; Steen-Bondeson, M.L.; Pettersson, U. ); Dahl, N. University Hospital, Uppsala ); Gustavson, K.H.; Anneren, G.; Wadelius, C. )

    1993-06-01

    A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity, seizures, and restricted joint motility. The patients die during infancy or early in childhood. Twenty-one family members, including two affected males, were available for study. Linkage analysis was conducted in the family by using 11 RFLP markers and 10 VNTR markers spread along the X chromosome. A hypervariable short tandem repeat of DXS294 at Xq26 showed a peak two-point lod score of 3.35 at zero recombination fraction. Calculations using the same markers revealed a multipoint peak lod score of 3.65 at DXS294. Crossover events with the centromeric marker DXS424 and the telomeric marker DXS297 delimit a probable region for the gene localization. It is noteworthy that the disease loci of two other syndromes with overlapping clinical manifestations recently were shown by Turner et al. and Pettigrew et al. to be linked to markers at Xq26. 29 refs., 2 figs., 1 tab.

  16. Genetics Home Reference: Cowden syndrome

    MedlinePlus

    ... conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had ... represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. ...

  17. Genetic obesity syndromes.

    PubMed

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

  18. On the Neuberger overlap operator

    NASA Astrophysics Data System (ADS)

    Boriçi, Artan

    1999-04-01

    We compute Neuberger's overlap operator by the Lanczos algorithm applied to the Wilson-Dirac operator. Locality of the operator for quenched QCD data and its eigenvalue spectrum in an instanton background are studied.

  19. A Study Guide for Stephen B. Oates' "The Fires of Jubilee: Nat Turner's Fierce Rebellion"

    ERIC Educational Resources Information Center

    Briley, Ron

    2006-01-01

    This document is a study guide for Stephen B. Oates biography of Nat Turner, "The Fires of Jubilee." The book is a practical reading vehicle for introducing Nat Turner to secondary students in grades 11 and 12. Oates divides his work into four parts, which could provide the basis for four reading assignments, although the sections are not of equal…

  20. 75 FR 38809 - Southern Turner Cimarron I, LLC; Notice of Filing

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-06

    ... Energy Regulatory Commission Southern Turner Cimarron I, LLC; Notice of Filing June 25, 2010. Take notice that on June 24, 2010, Southern Turner Cimarron I, LLC filed a supplement confirming passive ownership...-8659. Comment Date: 5 p.m. Eastern Time on July 6, 2010. Kimberly D. Bose, Secretary. BILLING CODE...

  1. The Rhetoric of Bishop Henry McNeal Turner, Renowned Speaker and Journalist.

    ERIC Educational Resources Information Center

    Cummings, Melbourne S.

    Bishop Henry McNeal Turner, a journalist and speaker, headed a back-to-Africa movement in the second half of the nineteenth century that was one of the first black rhetorical movements to meet the challenges of institutionalized racism in the United States. Turner was a preacher in the African Methodist Episcopal Church, becoming first an elder…

  2. Grey-Turner's sign after modified Kugel herniorrhaphy.

    PubMed

    Fan, Zhe; Tian, Xiaofeng; Zhang, Yingyi; Jing, Huirong; Pan, Jiyong; Wang, Shuang

    2014-01-01

    Tension-free hernia repairing techniques is a popular herniorrhaphy for open inguinal hernioplasty and the modified Kugel herniorrhaphy (MKH) is a kind of tension-free hernia repairing technique. The modified Kugel herniorrhaphy (MKH) is a minimally invasive, non-laparoscopic, conventional anterior approach, preperitoneal and sutureless technique. It is well accepted by most people because of few complications and low recurrence rate. A case of an 82-year-old man underwent MKH. After the third day of postoperation, a strange symptom of Grey-Turner's sign appeared and maintained for 10 days. PMID:25664136

  3. Improving the Efficient of Ernie Turner Center. Final Progress Report

    SciTech Connect

    Fredeen, Amy

    2011-03-21

    The objective of this project was to complete the specifications and drawings for a variable speed kitchen exhaust system and the boiler heating system which when implemented will improve the heating efficiency of the building. The design work was focused in two key areas: kitchen ventilation and heating for the Ernie Turner Center building (ETC). RSA completed design work and issued a set of 100% drawings. RSA also worked with a cost estimator to put together a detailed cost estimate for the project. The design components are summarized.

  4. Seeding for pervasively overlapping communities

    NASA Astrophysics Data System (ADS)

    Lee, Conrad; Reid, Fergal; McDaid, Aaron; Hurley, Neil

    2011-06-01

    In some social and biological networks, the majority of nodes belong to multiple communities. It has recently been shown that a number of the algorithms specifically designed to detect overlapping communities do not perform well in such highly overlapping settings. Here, we consider one class of these algorithms, those which optimize a local fitness measure, typically by using a greedy heuristic to expand a seed into a community. We perform synthetic benchmarks which indicate that an appropriate seeding strategy becomes more important as the extent of community overlap increases. We find that distinct cliques provide the best seeds. We find further support for this seeding strategy with benchmarks on a Facebook network and the yeast interactome.

  5. Severe Cutaneous Drug Reactions: Do Overlapping Forms Exist?

    PubMed

    Horcajada-Reales, C; Pulido-Pérez, A; Suárez-Fernández, R

    2016-01-01

    Acute generalized exanthematous pustulosis, Stevens-Johnson syndrome, toxic epidermal necrolysis, and drug reaction with eosinophilia and systemic symptoms are all severe hypersensitivity reactions to medications. While each of these reactions is a well-established entity with specific diagnostic criteria, clinicians see cases that fulfill criteria for more than one form, prompting discussion on the possibility of combined forms. Such overlapping clinical pictures meeting the criteria for 2 conditions have thus become a topic of debate in dermatology in recent years. We describe 2 patients with cutaneous drug reactions having the characteristics of both acute generalized exanthematous pustulosis and Stevens-Johnson syndrome -toxic epidermal necrolysis. We also review previously published cases and current thinking on such overlapping conditions. PMID:26520037

  6. Clique graphs and overlapping communities

    NASA Astrophysics Data System (ADS)

    Evans, T. S.

    2010-12-01

    It is shown how to construct a clique graph in which properties of cliques of a fixed order in a given graph are represented by vertices in a weighted graph. Various definitions and motivations for these weights are given. The detection of communities or clusters is used to illustrate how a clique graph may be exploited. In particular a benchmark network is shown where clique graphs find the overlapping communities accurately while vertex partition methods fail.

  7. Overlapping MERS and mild AESD caused by HHV-6 infection.

    PubMed

    Hatanaka, Mari; Kashiwagi, Mitsuru; Tanabe, Takuya; Nakahara, Hiroshi; Ohta, Kazumi; Tamai, Hiroshi

    2015-03-01

    We report the case of an overlapping encephalopathy syndrome consisting of clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) and a mild form of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) caused by human herpesvirus-6. A previously healthy 17-month-old girl was admitted to our hospital as a precaution because of seizures that had developed more than 25 hours (h) after fever. Brain diffusion-weighted images (DWI) showed high signal intensity in the central splenial region on Day 2. She regained consciousness 16 h after the second seizure. On Day 6, she had a secondary cluster of partial seizures. DWI showed resolution of the splenial lesion and revealed reduced diffusion in the fronto-subcortical white matter. She regained consciousness 36 h after the secondary cluster of seizures without any sequelae. A third DWI performed on Day 15 showed that the fronto-subcortical white matter lesions had completely disappeared. Based on the clinicoradiological findings, we diagnosed the patient with overlapping MERS and mild AESD. Our case, together with previous reports, suggests that patients can develop combined encephalopathy syndromes as a phenotype. Many encephalopathy syndromes have been established and classified; however, some may not present as independent syndromes. PMID:24856142

  8. Art, Technology, and the Holy: Reflections on the Work of J. M. W. Turner

    ERIC Educational Resources Information Center

    Murray, Michael

    1974-01-01

    The following reflections focus on one of the late works by Turner, Rain, Steam, and Speed: The Great Western Railway (1844), and its possible bearing on the three-fold theme of art, technology, and the holy. (Author)

  9. Allochthonous Ordovician eugeoclinal rocks on Turner Island, eastern Gulf of California, and their paleotectonic significance

    SciTech Connect

    Poole, F.G. ); Berry, W.B.N. . Dept. of Geology and Geophysics); Madrid, R.J. )

    1993-04-01

    A dark-gray meta-argillite unit within a strongly deformed allochthonous sequence of interbedded chert, siliceous argillite, siltite, and minor limestone or dolostone on the northern part of Turner Island contains poorly preserved, carbonized graptolites of late Middle to early Late Ordovician age. The Ordovician meta-argillite on Turner Island correlates with graptolitic Ordovician oceanic rocks in the Somoran orogen exposed on the mainland of Mexico about 90 km east-southeast of Hermosillo, in central Sonora. Turner Island lithofacies, together with fossil types and ages, indicate that the graptolitic meta-argillite unit is part of the Paleozoic eugeoclinal sequence that makes up the Somoran orogen, and is the westernmost sedimentary facies of this orogen within Mexico. Like other eugeoclinal rocks of the Sonoran orogen, the rocks on Turner Island were faulted and isoclinally folded. This assemblage of deformed Paleozoic rocks was tectonically emplaced and metamorphosed before intrusion by Mesozoic or Tertiary dikes and sills. Paleozoic rocks on Turner Island and the Mexican mainland to the east are located east of the East Pacific Rise and the transform faults that segment it in the Gulf of California. The Paleozoic rocks on Turner Island and mainland Mexico are dissimilar to Paleozoic rocks in Baja California, which lie west of the transform fault systems in the Gulf. Consequently, the author interpret the Paleozoic rocks in Baja California to represent displaced terranes that have no physical correlatives to the eugeoclinal rocks of Turner Island and mainland Mexico. The Ordovician rocks on Turner Island, therefore, indicate that the Sonoran orogen occurs as far west as the eastern Gulf of California but east of the transform fault systems.

  10. Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases

    PubMed Central

    Dittrich, Sven; Rüffer, André; Ekici, Arif B.; Toka, Okan

    2015-01-01

    Backround Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA. Methods We performed high-resolution genome-wide CNV analysis using the Affymetrix SNP 6.0 microarray platform for 70 individuals with sporadic CoA, 3 families with inherited CoA (n=13) and 605 controls. Our analysis comprised genome wide association, CNV burden and linkage. CNV was validated by multiplex ligation-dependent probe amplification. Results We identified a significant abundance of large (>100 kb) CNVs on the X chromosome in males with CoA (p=0.005). 11 out of 51 (~ 22%) male cases had these large CNVs. Association analysis in the sporadic cohort revealed 14 novel loci for CoA. The locus on 21q22.3 in the sporadic CoA cohort overlapped with a gene locus identified in all familial cases of CoA (candidate gene TRPM2). We identified one CNV locus within a locus with high multipoint LOD score from a linkage analysis of the familial cases (SEPT9); another locus overlapped with a region implicated in Kabuki syndrome. In the familial cases, we identified a total of 7 CNV loci that were exclusively present in cases but not in unaffected family members. Conclusion Of all candidate loci identified, the TRPM2 locus was the most frequently implicated autosomal locus in sporadic and familial cases. However, the abundance of large CNVs on the X chromosome of affected males suggests that gonosomal aberrations are not only responsible for syndromic CoA but also involved in the development of sporadic and non-syndromic CoA and their male dominance. PMID:25984793

  11. Hospital mergers and market overlap.

    PubMed Central

    Brooks, G R; Jones, V G

    1997-01-01

    OBJECTIVE: To address two questions: What are the characteristics of hospitals that affect the likelihood of their being involved in a merger? What characteristics of particular pairs of hospitals affect the likelihood of the pair engaging in a merger? DATA SOURCES/STUDY SETTING: Hospitals in the 12 county region surrounding the San Francisco Bay during the period 1983 to 1992 were the focus of the study. Data were drawn from secondary sources, including the Lexis/Nexis database, the American Hospital Association, and the Office of Statewide Health Planning and Development of the State of California. STUDY DESIGN: Seventeen hospital mergers during the study period were identified. A random sample of pairs of hospitals that did not merge was drawn to establish a statistically efficient control set. Models constructed from hypotheses regarding hospital and market characteristics believed to be related to merger likelihood were tested using logistic regression analysis. DATA COLLECTION: See Data Sources/Study Setting. PRINCIPAL FINDINGS: The analysis shows that the likelihood of a merger between a particular pair of hospitals is positively related to the degree of market overlap that exists between them. Furthermore, market overlap and performance difference interact in their effect on merger likelihood. In an analysis of individual hospitals, conditions of rivalry, hospital market share, and hospital size were not found to influence the likelihood that a hospital will engage in a merger. CONCLUSIONS: Mergers between hospitals are not driven directly by considerations of market power or efficiency as much as by the existence of specific merger opportunities in the hospitals' local markets. Market overlap is a condition that enables a merger to occur, but other factors, such as the relative performance levels of the hospitals in question and their ownership and teaching status, also play a role in influencing the likelihood that a merger will in fact take place. PMID

  12. Item Overlap Correlations: Definitions, Interpretations, and Implications.

    ERIC Educational Resources Information Center

    Hsu, Louis M.

    1994-01-01

    Item overlap coefficient (IOC) formulas are discussed, providing six warnings about their calculation and interpretation and some explanations of why item overlap influences the Minnesota Multiphasic Personality Inventory and the Millon Clinical Multiaxial Inventory factor structures. (SLD)

  13. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... overlap does not already exists, if: (1) The total area of overlap with that station would not be... modified NCE-FM station other than a Class D (secondary) station will not be accepted if the proposed operation would involve overlap of signal strength contours with any other station licensed by...

  14. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... overlap does not already exists, if: (1) The total area of overlap with that station would not be... modified NCE-FM station other than a Class D (secondary) station will not be accepted if the proposed operation would involve overlap of signal strength contours with any other station licensed by...

  15. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... overlap does not already exists, if: (1) The total area of overlap with that station would not be... modified NCE-FM station other than a Class D (secondary) station will not be accepted if the proposed operation would involve overlap of signal strength contours with any other station licensed by...

  16. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... overlap does not already exists, if: (1) The total area of overlap with that station would not be... modified NCE-FM station other than a Class D (secondary) station will not be accepted if the proposed operation would involve overlap of signal strength contours with any other station licensed by...

  17. Hemodynamics in coronary arteries with overlapping stents.

    PubMed

    Rikhtegar, Farhad; Wyss, Christophe; Stok, Kathryn S; Poulikakos, Dimos; Müller, Ralph; Kurtcuoglu, Vartan

    2014-01-22

    Coronary artery stenosis is commonly treated by stent placement via percutaneous intervention, at times requiring multiple stents that may overlap. Stent overlap is associated with increased risk of adverse clinical outcome. While changes in local blood flow are suspected to play a role therein, hemodynamics in arteries with overlapping stents remain poorly understood. In this study we analyzed six cases of partially overlapping stents, placed ex vivo in porcine left coronary arteries and compared them to five cases with two non-overlapping stents. The stented vessel geometries were obtained by micro-computed tomography of corrosion casts. Flow and shear stress distribution were calculated using computational fluid dynamics. We observed a significant increase in the relative area exposed to low wall shear stress (WSS<0.5 Pa) in the overlapping stent segments compared both to areas without overlap in the same samples, as well as to non-overlapping stents. We further observed that the configuration of the overlapping stent struts relative to each other influenced the size of the low WSS area: positioning of the struts in the same axial location led to larger areas of low WSS compared to alternating struts. Our results indicate that the overlap geometry is by itself sufficient to cause unfavorable flow conditions that may worsen clinical outcome. While stent overlap cannot always be avoided, improved deployment strategies or stent designs could reduce the low WSS burden. PMID:24275438

  18. Overlapping Structures in Sensory-Motor Mappings

    PubMed Central

    Earland, Kevin; Lee, Mark; Shaw, Patricia; Law, James

    2014-01-01

    This paper examines a biologically-inspired representation technique designed for the support of sensory-motor learning in developmental robotics. An interesting feature of the many topographic neural sheets in the brain is that closely packed receptive fields must overlap in order to fully cover a spatial region. This raises interesting scientific questions with engineering implications: e.g. is overlap detrimental? does it have any benefits? This paper examines the effects and properties of overlap between elements arranged in arrays or maps. In particular we investigate how overlap affects the representation and transmission of spatial location information on and between topographic maps. Through a series of experiments we determine the conditions under which overlap offers advantages and identify useful ranges of overlap for building mappings in cognitive robotic systems. Our motivation is to understand the phenomena of overlap in order to provide guidance for application in sensory-motor learning robots. PMID:24392118

  19. Depression-Burnout Overlap in Physicians

    PubMed Central

    Wurm, Walter; Vogel, Katrin; Holl, Anna; Ebner, Christoph; Bayer, Dietmar; Mörkl, Sabrina; Szilagyi, Istvan-Szilard; Hotter, Erich; Kapfhammer, Hans-Peter; Hofmann, Peter

    2016-01-01

    Background Whether burnout is a distinct phenomenon rather than a type of depression and whether it is a syndrome, limited to three “core” components (emotional exhaustion, depersonalization and low personal accomplishment) are subjects of current debate. We investigated the depression-burnout overlap, and the pertinence of these three components in a large, representative sample of physicians. Methods In a cross-sectional study, all Austrian physicians were invited to answer a questionnaire that included the Major Depression Inventory (MDI), the Hamburg Burnout Inventory (HBI), as well as demographic and job-related parameters. Of the 40093 physicians who received an invitation, a total of 6351 (15.8%) participated. The data of 5897 participants were suitable for analysis. Results Of the participants, 10.3% were affected by major depression. Our study results suggest that potentially 50.7% of the participants were affected by symptoms of burnout. Compared to physicians unaffected by burnout, the odds ratio of suffering from major depression was 2.99 (95% CI 2.21–4.06) for physicians with mild, 10.14 (95% CI 7.58–13.59) for physicians with moderate, 46.84 (95% CI 35.25–62.24) for physicians with severe burnout and 92.78 (95% CI 62.96–136.74) for the 3% of participants with the highest HBI_sum (sum score of all ten HBI components). The HBI components Emotional Exhaustion, Personal Accomplishment and Detachment (representing depersonalization) tend to correlate more highly with the main symptoms of major depression (sadness, lack of interest and lack of energy) than with each other. A combination of the HBI components Emotional Exhaustion, Helplessness, Inner Void and Tedium (adj.R2 = 0.92) explained more HBI_sum variance than the three “core” components (adj.R2 = 0.85) of burnout combined. Cronbach’s alpha for Emotional Exhaustion, Helplessness, Inner Void and Tedium combined was 0.90 compared to α = 0.54 for the combination of the three

  20. Identity, influence, and change: rediscovering John Turner's vision for social psychology.

    PubMed

    Haslam, S Alexander; Reicher, Stephen D; Reynolds, Katherine J

    2012-06-01

    John Turner, whose pioneering work on social identity and self-categorization theories changed the face of modern social psychology, died in July 2011. This unique virtual special issue celebrates Turner's life and work by reproducing a number of key articles that were published in the British Journal of Social Psychology and the European Journal of Social Psychology over the course of his career. These articles are of three types: first, key position papers, on which Turner was the leading or sole author; second, papers that he published with collaborators (typically PhD students) that explored key theoretical propositions; third, short commentary papers, in which Turner engaged in debate around key issues within social psychology. Together, these papers map out a clear and compelling vision. This seeks to explain the distinctly social nature of the human mind by showing how all important forms of social behaviour - and in particular, the propensity for social influence and social change -are grounded in the sense of social identity that people derive from their group memberships. As we discuss in this editorial, Turner's great contribution was to formalize this understanding in terms of testable hypotheses and generative theory and then to work intensively but imaginatively with others to take this vision forward. PMID:22390752

  1. 75 FR 59259 - Turner Energy, LLC; Supplemental Notice That Initial Market-Based Rate Filing Includes Request...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-27

    ... notice in the above-referenced proceeding of Turner Energy, LLC's application for market-based rate... Energy Regulatory Commission Turner Energy, LLC; Supplemental Notice That Initial Market-Based Rate... Street, NE., Washington, DC 20426, in accordance with Rules 211 and 214 of the Commission's Rules...

  2. Solving Partial Differential Equations on Overlapping Grids

    SciTech Connect

    Henshaw, W D

    2008-09-22

    We discuss the solution of partial differential equations (PDEs) on overlapping grids. This is a powerful technique for efficiently solving problems in complex, possibly moving, geometry. An overlapping grid consists of a set of structured grids that overlap and cover the computational domain. By allowing the grids to overlap, grids for complex geometries can be more easily constructed. The overlapping grid approach can also be used to remove coordinate singularities by, for example, covering a sphere with two or more patches. We describe the application of the overlapping grid approach to a variety of different problems. These include the solution of incompressible fluid flows with moving and deforming geometry, the solution of high-speed compressible reactive flow with rigid bodies using adaptive mesh refinement (AMR), and the solution of the time-domain Maxwell's equations of electromagnetism.

  3. Overlap in Facebook Profiles Reflects Relationship Closeness.

    PubMed

    Castañeda, Araceli M; Wendel, Markie L; Crockett, Erin E

    2015-01-01

    We assessed the association between self-reported Inclusion of Other in the Self (IOS) and Facebook overlap. Ninety-two participants completed online measures of IOS and investment model constructs. Researchers then recorded Facebook data from participants' profile pages. Results from multilevel models revealed that IOS predicted Facebook overlap. Furthermore, Facebook overlap was associated with commitment and investment in ways comparable to self-reported IOS. These findings suggest that overlap in Facebook profiles can be used to measure relationship closeness. PMID:25635533

  4. Editors' overview for the Alan Turner Memorial volume

    NASA Astrophysics Data System (ADS)

    O'Regan, Hannah J.; Elton, Sarah; Schreve, Danielle

    2014-07-01

    The papers presented here, in this special volume dedicated to the memory of Alan Turner (1947-2012), provide a glimpse of the multi-faceted ways in which the mammalian fossil record can be investigated. The authors of contributions in this Special Issue are by no means an exhaustive list of his international collaborators and colleagues, and indeed, many are not represented here, but the contents cover many of the topics and issues that were of central archaeological and wider Quaternary mammalian interest to Alan. Although the papers are not intended to provide a comprehensive overview of all techniques that can be applied, the set nevertheless reveals a snapshot of the state-of-the-art and of some of the methods that have the potential to bring much more of the past to life. Alan always sought to move beyond the 'stamp-collecting' approach of simply listing which taxa were present at a site, attempting to elucidate what the presence of those animals might mean in terms of palaeoecology. In particular, the span of Alan's career has seen major advances in our understanding of Quaternary mammalian biostratigraphy and palaeobiogeography, the widespread application of novel techniques such as ancient DNA, the development of high-precision geochronology and the discovery of new hominin species. The papers presented here reflect those developments and highlight interdisciplinary approaches, from examination of sediments to careful measurements of the fossils themselves, from modelling the presence of taxa at particular points in the Quaternary to examination of the similarities and differences in fauna within and between sites.

  5. The A, B, C's of Factitious Disorder: A Response to Turner

    PubMed Central

    Hamilton, James C.; Feldman, Marc D.; Janata, Jeffrey W.

    2009-01-01

    The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) is being prepared, but little attention has been accorded the category of factitious disorder, despite its presence in the manual for almost 30 years. Among relevant articles that have appeared, Turner's publication advocates retention of the category, but with new criteria. In the current paper, we reject Turner's reformulation but use the identified diagnostic dilemmas to illuminate the phenomenology of factitious disorder. We also offer a reconceptualization of the diagnosis that should better inform the preparations for DSM-V. PMID:19295948

  6. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 47 Telecommunication 4 2014-10-01 2014-10-01 false Prohibited overlap. 73.509 Section 73.509 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) BROADCAST RADIO SERVICES RADIO BROADCAST SERVICES Noncommercial Educational FM Broadcast Stations § 73.509 Prohibited overlap. (a) An application for a new or modified NCE-FM station...

  7. Restoration and reconstruction from overlapping images

    NASA Technical Reports Server (NTRS)

    Reichenbach, Stephen E.; Kaiser, Daniel J.; Hanson, Andrew L.; Li, Jing

    1997-01-01

    This paper describes a technique for restoring and reconstructing a scene from overlapping images. In situations where there are multiple, overlapping images of the same scene, it may be desirable to create a single image that most closely approximates the scene, based on all of the data in the available images. For example, successive swaths acquired by NASA's planned Moderate Imaging Spectrometer (MODIS) will overlap, particularly at wide scan angles, creating a severe visual artifact in the output image. Resampling the overlapping swaths to produce a more accurate image on a uniform grid requires restoration and reconstruction. The one-pass restoration and reconstruction technique developed in this paper yields mean-square-optimal resampling, based on a comprehensive end-to-end system model that accounts for image overlap, and subject to user-defined and data-availability constraints on the spatial support of the filter.

  8. Neural overlap in processing music and speech

    PubMed Central

    Peretz, Isabelle; Vuvan, Dominique; Lagrois, Marie-Élaine; Armony, Jorge L.

    2015-01-01

    Neural overlap in processing music and speech, as measured by the co-activation of brain regions in neuroimaging studies, may suggest that parts of the neural circuitries established for language may have been recycled during evolution for musicality, or vice versa that musicality served as a springboard for language emergence. Such a perspective has important implications for several topics of general interest besides evolutionary origins. For instance, neural overlap is an important premise for the possibility of music training to influence language acquisition and literacy. However, neural overlap in processing music and speech does not entail sharing neural circuitries. Neural separability between music and speech may occur in overlapping brain regions. In this paper, we review the evidence and outline the issues faced in interpreting such neural data, and argue that converging evidence from several methodologies is needed before neural overlap is taken as evidence of sharing. PMID:25646513

  9. Neural overlap in processing music and speech.

    PubMed

    Peretz, Isabelle; Vuvan, Dominique; Lagrois, Marie-Élaine; Armony, Jorge L

    2015-03-19

    Neural overlap in processing music and speech, as measured by the co-activation of brain regions in neuroimaging studies, may suggest that parts of the neural circuitries established for language may have been recycled during evolution for musicality, or vice versa that musicality served as a springboard for language emergence. Such a perspective has important implications for several topics of general interest besides evolutionary origins. For instance, neural overlap is an important premise for the possibility of music training to influence language acquisition and literacy. However, neural overlap in processing music and speech does not entail sharing neural circuitries. Neural separability between music and speech may occur in overlapping brain regions. In this paper, we review the evidence and outline the issues faced in interpreting such neural data, and argue that converging evidence from several methodologies is needed before neural overlap is taken as evidence of sharing. PMID:25646513

  10. Motor Protein Accumulation on Antiparallel Microtubule Overlaps

    NASA Astrophysics Data System (ADS)

    Kuan, Hui-Shun; Betterton, Meredith D.

    2016-05-01

    Biopolymers serve as one-dimensional tracks on which motor proteins move to perform their biological roles. Motor protein phenomena have inspired theoretical models of one-dimensional transport, crowding, and jamming. Experiments studying the motion of Xklp1 motors on reconstituted antiparallel microtubule overlaps demonstrated that motors recruited to the overlap walk toward the plus end of individual microtubules and frequently switch between filaments. We study a model of this system that couples the totally asymmetric simple exclusion process (TASEP) for motor motion with switches between antiparallel filaments and binding kinetics. We determine steady-state motor density profiles for fixed-length overlaps using exact and approximate solutions of the continuum differential equations and compare to kinetic Monte Carlo simulations. Overlap motor density profiles and motor trajectories resemble experimental measurements. The phase diagram of the model is similar to the single-filament case for low switching rate, while for high switching rate we find a new low density-high density-low density-high density phase. The overlap center region, far from the overlap ends, has a constant motor density as one would naively expect. However, rather than following a simple binding equilibrium, the center motor density depends on total overlap length, motor speed, and motor switching rate. The size of the crowded boundary layer near the overlap ends is also dependent on the overlap length and switching rate in addition to the motor speed and bulk concentration. The antiparallel microtubule overlap geometry may offer a previously unrecognized mechanism for biological regulation of protein concentration and consequent activity.

  11. Motor Protein Accumulation on Antiparallel Microtubule Overlaps.

    PubMed

    Kuan, Hui-Shun; Betterton, Meredith D

    2016-05-10

    Biopolymers serve as one-dimensional tracks on which motor proteins move to perform their biological roles. Motor protein phenomena have inspired theoretical models of one-dimensional transport, crowding, and jamming. Experiments studying the motion of Xklp1 motors on reconstituted antiparallel microtubule overlaps demonstrated that motors recruited to the overlap walk toward the plus end of individual microtubules and frequently switch between filaments. We study a model of this system that couples the totally asymmetric simple exclusion process for motor motion with switches between antiparallel filaments and binding kinetics. We determine steady-state motor density profiles for fixed-length overlaps using exact and approximate solutions of the continuum differential equations and compare to kinetic Monte Carlo simulations. Overlap motor density profiles and motor trajectories resemble experimental measurements. The phase diagram of the model is similar to the single-filament case for low switching rate, while for high switching rate we find a new (to our knowledge) low density-high density-low density-high density phase. The overlap center region, far from the overlap ends, has a constant motor density as one would naïvely expect. However, rather than following a simple binding equilibrium, the center motor density depends on total overlap length, motor speed, and motor switching rate. The size of the crowded boundary layer near the overlap ends is also dependent on the overlap length and switching rate in addition to the motor speed and bulk concentration. The antiparallel microtubule overlap geometry may offer a previously unrecognized mechanism for biological regulation of protein concentration and consequent activity. PMID:27166811

  12. Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

    PubMed Central

    Al Kaissi, Ali; Ben Ghachem, Maher; Ben Chehida, Farid; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

    2016-01-01

    Background We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. Methods Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects. The rest of the family subjects manifested with normal height, and yet multiple exostoses. In this family, the skeletal manifestations were sufficiently variable for the presentation to be with either short stature or scoliosis, a Madelung’ deformity, or with severe hallux valgus associated with exostosis and with Leri-Weill dyschondrosteosis syndrome. Results Subjects with structural chromosomal aberrations of the proband IV-7, who manifested with normal height but with multiple exostoses were excluded via 20 CAG-banded mitoses (there were no microdeletions or microduplication after performing Array-CGH-analysis). In addition, DNA examination for subject IV-8 (male cousin of the proband showed short stature and Leri-Weill dyschondrosteosis syndrome) revealed no evidence of SHOX deletions. Conclusion We described a multigenerational non-consanguineous North African family , in which mesomelic dysplasia, whose clinical and radiological phenotypes resembled dyschondrosteosis, was a prominent feature in three family subjects. Multiple exostoses were evident in several other family subjects (most were with normal height). We would like to emphasize the variability in the phenotypic expression of multiple exostosis, especially the confusion that might arise when the condition appears both clinically and radiologically to be more complicated, and the overall picture might then be overlapped with one of the other bone dysplasias such as Leri-Weill dyschondrosteosis syndrome. PMID:27429682

  13. FORTRAN PROCESSING OF FLUOROMETRIC DATA LOGGED BY A TURNER DESIGNS FIELD FLUOROMETER

    EPA Science Inventory

    Continuous recording of dye fluorescence using field fluorometers at selected sampling sites facilitate acquisition of real-time dye-tracing data. The Turner Designs Model 10-AU-005 Field Fluorometer allows for frequent fluorescence readings, data logging, and easy downloading t...

  14. Rapid Processing of Turner Designs Model 10-Au-005 Internally Logged Fluorescence Data

    EPA Science Inventory

    Continuous recording of dye fluorescence using field fluorometers at selected sampling sites facilitates acquisition of real-time dye tracing data. The Turner Designs Model 10-AU-005 field fluorometer allows for frequent fluorescence readings, data logging, and easy downloading t...

  15. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

    PubMed

    Schaefer, Elise; Durand, Myriam; Stoetzel, Corinne; Doray, Bérénice; Viville, Brigitte; Hellé, Sophie; Danse, Jean-Marc; Hamel, Christian; Bitoun, Pierre; Goldenberg, Alice; Finck, Sonia; Faivre, Laurence; Sigaudy, Sabine; Holder, Muriel; Vincent, Marie-Claire; Marion, Vincent; Bonneau, Dominique; Verloes, Alain; Nisand, Israël; Mandel, Jean-Louis; Dollfus, Hélène

    2011-01-01

    Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. PMID:21044901

  16. A device to improve the Schleger and Turner method for sweating rate measurements

    NASA Astrophysics Data System (ADS)

    Pereira, Alfredo Manuel Franco; Alves, Alexandre; Infante, Paulo; Titto, Evaldo A. L.; Baccari, Flávio; Almeida, J. A. Afonso

    2010-01-01

    The objective of this study was to test a device developed to improve the functionality, accuracy and precision of the original technique for sweating rate measurements proposed by Schleger and Turner [Schleger AV, Turner HG (1965) Aust J Agric Res 16:92-106]. A device was built for this purpose and tested against the original Schleger and Turner technique. Testing was performed by measuring sweating rates in an experiment involving six Mertolenga heifers subjected to four different thermal levels in a climatic chamber. The device exhibited no functional problems and the results obtained with its use were more consistent than with the Schleger and Turner technique. There was no difference in the reproducibility of the two techniques (same accuracy), but measurements performed with the new device had lower repeatability, corresponding to lower variability and, consequently, to higher precision. When utilizing this device, there is no need for physical contact between the operator and the animal to maintain the filter paper discs in position. This has important advantages: the animals stay quieter, and several animals can be evaluated simultaneously. This is a major advantage because it allows more measurements to be taken in a given period of time, increasing the precision of the observations and diminishing the error associated with temporal hiatus (e.g., the solar angle during field studies). The new device has higher functional versatility when taking measurements in large-scale studies (many animals) under field conditions. The results obtained in this study suggest that the technique using the device presented here could represent an advantageous alternative to the original technique described by Schleger and Turner.

  17. Correlated edge overlaps in multiplex networks.

    PubMed

    Baxter, Gareth J; Bianconi, Ginestra; da Costa, Rui A; Dorogovtsev, Sergey N; Mendes, José F F

    2016-07-01

    We develop the theory of sparse multiplex networks with partially overlapping links based on their local treelikeness. This theory enables us to find the giant mutually connected component in a two-layer multiplex network with arbitrary correlations between connections of different types. We find that correlations between the overlapping and nonoverlapping links markedly change the phase diagram of the system, leading to multiple hybrid phase transitions. For assortative correlations we observe recurrent hybrid phase transitions. PMID:27575144

  18. Correlated edge overlaps in multiplex networks

    NASA Astrophysics Data System (ADS)

    Baxter, Gareth J.; Bianconi, Ginestra; da Costa, Rui A.; Dorogovtsev, Sergey N.; Mendes, José F. F.

    2016-07-01

    We develop the theory of sparse multiplex networks with partially overlapping links based on their local treelikeness. This theory enables us to find the giant mutually connected component in a two-layer multiplex network with arbitrary correlations between connections of different types. We find that correlations between the overlapping and nonoverlapping links markedly change the phase diagram of the system, leading to multiple hybrid phase transitions. For assortative correlations we observe recurrent hybrid phase transitions.

  19. X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.

    PubMed

    Donti, E; Nicoletti, I; Venti, G; Filipponi, P; Gerli, R; Spinozzi, F; Cernetti, C; Rambotti, P

    1989-04-01

    A rare association of chromosomal, immunological and endocrine defects is described in a young woman with short stature, recurrent pulmonary infections and primary amenorrhea. Cytogenetic studies showed a 45, X karyotype in 65% of peripheral blood lymphocytes and 46,Xr(X) (p22q27) karyotype in the remaining 35%. Severe immunodeficiency was revealed by phenotypical and functional studies and a selective gonadotropin defect was disclosed by endocrinological investigations. An attempt is made to explain the coexistence of the three abnormal pictures. PMID:2745937

  20. Incidence of Neuralgic Amyotrophy (Parsonage Turner Syndrome) in a Primary Care Setting - A Prospective Cohort Study

    PubMed Central

    van Alfen, Nens; van Eijk, Jeroen J. J.; Ennik, Tessa; Flynn, Sean O.; Nobacht, Inge E. G.; Groothuis, Jan T.; Pillen, Sigrid; van de Laar, Floris A.

    2015-01-01

    Objective Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a primary care setting. Methods In a prospective cohort study during the year 2012 we registered all new cases of neck, shoulder or arm complaints from two large primary care centers serving a population of 14,118. Prior to study, general practitioners received a short training on how to diagnose classic neuralgic amyotrophy. Neuralgic amyotrophy was defined according to published criteria irrespective of family history. Only patients with a classic phenotype were counted as definite cases. After inclusion, patients with suspected neuralgic amyotrophy who had not yet seen a neurologist were offered neurologic evaluation for diagnostic confirmation. Results Of the 492 patients identified with new onset neck, shoulder or arm complaints, 34 were suspected of having neuralgic amyotrophy. After neurologic evaluation the diagnosis was confirmed in 14 patients. This amounts to a one-year incidence rate for classic neuralgic amyotrophy of 1 per 1000. Conclusions Our findings suggest that neuralgic amyotrophy is 30-50 times more common than previously thought. Unawareness of the disorder and its clinical presentation seems the most likely explanation for this difference. An incidence rate of 1 per 1000 and the long-term sequelae many patients suffer warrant more vigilance in diagnosing the disorder, to pave the way for timely treatment and prevent complications. PMID:26016482

  1. Automatic segmentation of overlapping and touching chromosomes

    NASA Astrophysics Data System (ADS)

    Yuan, Zhiqiang; Chen, Xiaohua; Zhang, Renli; Yu, Chang

    2001-09-01

    This paper describes a technique to segment overlapping and touching chromosomes of human metaphase cells. Automated chromosome classification has been an important pattern recognition problem for decades, numerous attempts were made in the past to characterize chromosome band patterns. But successful separation between touching and overlapping chromosomes is vital for correct classification. Since chromosomes are non-rigid objects, common methods for separation between touching chromosomes are not usable. We proposed a method using shape concave and convex information, topology analysis information, and band pale paths for segmentation of touching and overlapping chromosomes. To detect shape concave and convex information, we should first pre-segment the chromosomes and get the edge of overlapping and touching chromosomes. After filtering the original image using edge-preserving filter, we adopt the Otsu's segmentation method and extract the boundary of chromosomes. Hence the boundary can be used for segment the overlapping and touching chromosomes by detecting the concave and convex information based on boundary information. Most of the traditional boundary-based algorithms detect corners based on two steps: the first step is to acquire the smoothed version of curvature at every point along the contour, and the second step is to detect the positions where curvature maximal occur and threshold the curvature as corner points. Recently wavelet transform has been adopted into corner detection algorithms. Since the metaphase overlapping chromosomes has multi-scale corners, we adopt a multi-scale corner detection method based on Hua's method for corner detection. For touching chromosomes, it is convenient to split them using pale paths. Starting from concave corner points, a search algorithm is represented. The searching algorithm traces three pixels into the object in the direction of the normal vector in order to avoid stopping at the initial boundary until it

  2. Sources in the history of occupational health: the Turner & Newall archive.

    PubMed

    Tweedale, G

    2000-12-01

    Sources in the History of occupational health are scanty-a reflection perhaps of the contentious nature of the documentation. In the UK, asbestos company records have until recently been unavailable and consequently historians and policy-makers have been hindered from exploring a major public health issue. In 1995, however, Chase Manhattan Bank in New York sued the leading British asbestos producer, Turner & Newall, in a property-damage claim. During pre-trial discovery, Chase had copied a large proportion of Turner & Newall's vast archive and under American law was able to put the records in the public domain. This article describes how this collection of records-perhaps the largest anywhere on the history of an occupational health hazard-was generated. It also suggests ways of navigating the documents; discusses the nature of the material; and the archive's uses to medical and industrial historians. PMID:14535275

  3. Detecting overlapping communities in massive networks

    NASA Astrophysics Data System (ADS)

    Sun, Bing-Jie; Shen, Hua-Wei; Cheng, Xue-Qi

    2014-12-01

    Community detection is an essential work for network analysis. However, few methods could be used as off-the-shelf tools to detect communities in real-world networks for two main reasons: Real networks often contain millions of nodes or even hundreds of millions of nodes while most methods cannot handle networks at this scale. One node often belongs to multiple communities, posing another big challenge. In this paper, we circumvent the tricky problem of detecting overlapping communities using a two-stage framework, balancing efficiency and accuracy. Given a network, we first focus on efficiently finding its coarse-grained communities. Starting from them, we next obtain overlapping communities by optimizing a principled objective function. In this divide-and-conquer way, the framework achieves a much better performance than detecting overlapping communities from scratch. Extensive tests on synthetic and real networks demonstrate that it outperforms state-of-the-art methods in terms of both efficiency and accuracy.

  4. Generating Composite Overlapping Grids on CAD Geometries

    SciTech Connect

    Henshaw, W.D.

    2002-02-07

    We describe some algorithms and tools that have been developed to generate composite overlapping grids on geometries that have been defined with computer aided design (CAD) programs. This process consists of five main steps. Starting from a description of the surfaces defining the computational domain we (1) correct errors in the CAD representation, (2) determine topology of the patched-surface, (3) build a global triangulation of the surface, (4) construct structured surface and volume grids using hyperbolic grid generation, and (5) generate the overlapping grid by determining the holes and the interpolation points. The overlapping grid generator which is used for the final step also supports the rapid generation of grids for block-structured adaptive mesh refinement and for moving grids. These algorithms have been implemented as part of the Overture object-oriented framework.

  5. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  6. Temporal niche overlap among insectivorous small mammals.

    PubMed

    Vieira, Emerson M; Paise, Gabriela

    2011-12-01

    Being active in the same environment at different times exposes animals to the effects of very different environmental factors, both biotic and abiotic. In the present study, we used live traps equipped with timing devices to evaluate the potential role of biotic factors (competition and food abundance) on overall overlap in the temporal niche axis of 4 insectivorous small mammals in high-elevation grassland fields ('campos de altitude') of southern Brazil. Based on resources availability (invertebrates), data on animal captures were pooled in 2 seasons: 'scarcity' (June 2001-September 2001) and 'abundance' (November 2001-May 2002) seasons. We tested for non-random structure in temporal niche overlap among the species in each season. These species were the rodents Oxymycterus nasutus (Waterhouse, 1837), Deltamys sp., Akodon azarae (Fischer, 1829), and the marsupial Monodelphis brevicaudis Olfers, 1818. The studied community was mainly diurnal with crepuscular peaks. Simulations using the Pianka index of niche overlap indicated that the empirical assemblage-wide overlap was not significantly different from randomly generated patterns in the abundance season but significantly greater than expected by chance alone in the scarcity season. All the species showed an increase in temporal niche breadth during the abundance season, which appears to be related to longer daylength and high nocturnal temperatures. Patterns on both temporal niche overlap and temporal niche breadth were the opposite to those that we were expecting in the case of diel activity patterns determined by competition for dietary resources. Therefore, we conclude that competition did not seem to be preponderant for determining patterns of temporal niche overlap by the studied community. PMID:22182329

  7. Retroperitoneal Haematom due to Spontaneous Rupture and Haemorrhage of Adrenal Cyst Presenting with Grey Turner's Sign.

    PubMed

    Sonmez, Bedriye Muge; Yilmaz, Fevzi; Özkan, Fevzi Bircan; Ongar, Murat; Özturk, Derya; Cesur, Fatma

    2015-07-01

    Spontaneous retroperitoneal haemorrhage is a rare entity and a potentially life-threatening condition. A 41-year-old woman presented to our emergency department with left flank pain and dysuria. Her physical examination disclosed left abdominal and costovertebral angle tenderness, left flank ecchymosis (Grey Turner sign). Abdominal computerised tomography revealed spontaneous retroperitoneal haemorrhage. She was discharged after 10 days with recommendation of urology follow-up. PMID:26160093

  8. Sub-Plate Overlap Code Documentation

    NASA Technical Reports Server (NTRS)

    Taff, L. G.; Bucciarelli, B.; Zarate, N.

    1997-01-01

    An expansion of the plate overlap method of astrometric data reduction to a single plate has been proposed and successfully tested. Each plate is (artificially) divided into sub-plates which can then be overlapped. This reduces the area of a 'plate' over which a plate model needs to accurately represent the relationship between measured coordinates and standard coordinates. Application is made to non-astrographic plates such as Schmidt plates and to wide-field astrographic plates. Indeed, the method is completely general and can be applied to any type of recording media.

  9. Dynamics of overlapping structures in modular networks.

    PubMed

    Almendral, J A; Leyva, I; Li, D; Sendiña-Nadal, I; Havlin, S; Boccaletti, S

    2010-07-01

    Modularity is a fundamental feature of real networks, being intimately bounded to their functionality, i.e., to their capability of performing parallel tasks in a coordinated way. Although the modular structure of real graphs has been intensively studied, very little is known on the interactions between functional modules of a graph. Here, we present a general method based on synchronization of networking oscillators, that is able to detect overlapping structures in multimodular environments. We furthermore report the full analytical and theoretical description on the relationship between the overlapping dynamics and the underlying network topology. The method is illustrated by means of a series of applications. PMID:20866697

  10. Power divergences in overlapping Wilson lines

    NASA Astrophysics Data System (ADS)

    Berwein, Matthias

    2016-01-01

    We discuss the divergence structure of Wilson line operators with partially overlapping segments on the basis of the cyclic Wilson loop as an explicit example. The generalized exponentiation theorem is used to show the exponentiation and factorization of power divergences for certain linear combinations of associated loop functions.

  11. Overlapping Community Detection based on Network Decomposition

    NASA Astrophysics Data System (ADS)

    Ding, Zhuanlian; Zhang, Xingyi; Sun, Dengdi; Luo, Bin

    2016-04-01

    Community detection in complex network has become a vital step to understand the structure and dynamics of networks in various fields. However, traditional node clustering and relatively new proposed link clustering methods have inherent drawbacks to discover overlapping communities. Node clustering is inadequate to capture the pervasive overlaps, while link clustering is often criticized due to the high computational cost and ambiguous definition of communities. So, overlapping community detection is still a formidable challenge. In this work, we propose a new overlapping community detection algorithm based on network decomposition, called NDOCD. Specifically, NDOCD iteratively splits the network by removing all links in derived link communities, which are identified by utilizing node clustering technique. The network decomposition contributes to reducing the computation time and noise link elimination conduces to improving the quality of obtained communities. Besides, we employ node clustering technique rather than link similarity measure to discover link communities, thus NDOCD avoids an ambiguous definition of community and becomes less time-consuming. We test our approach on both synthetic and real-world networks. Results demonstrate the superior performance of our approach both in computation time and accuracy compared to state-of-the-art algorithms.

  12. Liberal Education: An Overlapping Pragmatic Consensus.

    ERIC Educational Resources Information Center

    Paris, David C.; Kimball, Bruce A.

    2000-01-01

    Suggests in Bruce Kimball's thesis that a pragmatic consensus was emerging about the understanding of liberal education offers that it might be best understood by comparing it to J. Rawl's idea of an "overlapping consensus." States that by comparing and contrasting these ideas that the emerging consensus is pragmatic in nature. (CMK)

  13. Overlapping Community Detection based on Network Decomposition

    PubMed Central

    Ding, Zhuanlian; Zhang, Xingyi; Sun, Dengdi; Luo, Bin

    2016-01-01

    Community detection in complex network has become a vital step to understand the structure and dynamics of networks in various fields. However, traditional node clustering and relatively new proposed link clustering methods have inherent drawbacks to discover overlapping communities. Node clustering is inadequate to capture the pervasive overlaps, while link clustering is often criticized due to the high computational cost and ambiguous definition of communities. So, overlapping community detection is still a formidable challenge. In this work, we propose a new overlapping community detection algorithm based on network decomposition, called NDOCD. Specifically, NDOCD iteratively splits the network by removing all links in derived link communities, which are identified by utilizing node clustering technique. The network decomposition contributes to reducing the computation time and noise link elimination conduces to improving the quality of obtained communities. Besides, we employ node clustering technique rather than link similarity measure to discover link communities, thus NDOCD avoids an ambiguous definition of community and becomes less time-consuming. We test our approach on both synthetic and real-world networks. Results demonstrate the superior performance of our approach both in computation time and accuracy compared to state-of-the-art algorithms. PMID:27066904

  14. Autism and ADHD: Overlapping and Discriminating Symptoms

    ERIC Educational Resources Information Center

    Mayes, Susan Dickerson; Calhoun, Susan L.; Mayes, Rebecca D.; Molitoris, Sarah

    2012-01-01

    Children with ADHD and autism have some similar features, complicating a differential diagnosis. The purpose of our study was to determine the degree to which core ADHD and autistic symptoms overlap in and discriminate between children 2-16 years of age with autism and ADHD. Our study demonstrated that 847 children with autism were easily…

  15. Overlapping Community Detection based on Network Decomposition.

    PubMed

    Ding, Zhuanlian; Zhang, Xingyi; Sun, Dengdi; Luo, Bin

    2016-01-01

    Community detection in complex network has become a vital step to understand the structure and dynamics of networks in various fields. However, traditional node clustering and relatively new proposed link clustering methods have inherent drawbacks to discover overlapping communities. Node clustering is inadequate to capture the pervasive overlaps, while link clustering is often criticized due to the high computational cost and ambiguous definition of communities. So, overlapping community detection is still a formidable challenge. In this work, we propose a new overlapping community detection algorithm based on network decomposition, called NDOCD. Specifically, NDOCD iteratively splits the network by removing all links in derived link communities, which are identified by utilizing node clustering technique. The network decomposition contributes to reducing the computation time and noise link elimination conduces to improving the quality of obtained communities. Besides, we employ node clustering technique rather than link similarity measure to discover link communities, thus NDOCD avoids an ambiguous definition of community and becomes less time-consuming. We test our approach on both synthetic and real-world networks. Results demonstrate the superior performance of our approach both in computation time and accuracy compared to state-of-the-art algorithms. PMID:27066904

  16. Stochastic Cooling with Schottky Band Overlap

    SciTech Connect

    Lebedev, Valeri

    2006-03-20

    Optimal use of stochastic cooling is essential to maximize the antiproton stacking rate for Tevatron Run II. Good understanding and characterization of the cooling is important for the optimization. The paper is devoted to derivation of the Fokker-Plank equations justified in the case of near or full Schottky base overlap for both longitudinal and transverse coolings.

  17. Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts.

    PubMed Central

    Hoshi, N; Fujita, M; Mikuni, M; Fujino, T; Okuyama, K; Handa, Y; Yamada, H; Sagawa, T; Hareyama, H; Nakahori, Y; Fujieda, K; Kant, J A; Nagashima, K; Fujimoto, S

    1998-01-01

    We report an unusual case of a 55 year old Japanese woman with a seminoma but relatively normal menses. The patient was a phenotypic female with late onset menarche (18 years of age), who was amenorrhoeic for the first year, followed by menses of one to three days' slight flow with dysmenorrhoea, but an otherwise normal menstrual history. A typical seminoma was removed from the left adnexal region and an immature testis was identified separately as an associated right adnexal mass. Repeated karyotypic studies on peripheral blood lymphocyte cultures showed only 46,X,-Y,t(Y;15)(q12;p13). Cytogenetic examination of the patient's younger brother, who had fathered three healthy children, showed an identical karyotype. Mosaicism of 46,X,-Y,t(Y;15)(q12;p13)/45,X cell lines was found in skin samples from the patient's elbow and genital regions, although there were no clinical stigmata of Turner syndrome. An androgen receptor binding assay of cultured genital skin fibroblasts was negative. Molecular analysis using Southern blot hybridisation, PCR, and direct DNA sequencing showed that neither the patient nor her brother had a detectable deletion or other abnormalities of Y chromosome sequences, including the SRY (sex determining region of the Y chromosome) gene sequence. These findings suggest that Turner mosaicism of the 45,X cell line may have contributed to this atypical presentation in an XY female, although we cannot exclude abnormalities of other genes related to sex differentiation. Images PMID:9783712

  18. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  19. Genetic Syndromes Associated with Craniosynostosis

    PubMed Central

    2016-01-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  20. Vacuum structure as seen by overlap fermions

    SciTech Connect

    Ilgenfritz, E.-M.; Koller, K.; Koma, Y.; Schierholz, G.; Streuer, T.; Weinberg, V.

    2007-02-27

    Three complementary views on the QCD vacuum structure, all based on eigenmodes of the overlap operator, are reported in their interrelation: (i) spectral density, localization and chiral properties of the modes, (ii) the possibility of filtering the field strength with the aim to detect selfdual and antiselfdual domains and (iii) the various faces of the topological charge density, with and without a cutoff {lambda}cut = O({lambda}QCD). The techniques are tested on quenched SU(3) configurations.

  1. Function approximation using adaptive and overlapping intervals

    SciTech Connect

    Patil, R.B.

    1995-05-01

    A problem common to many disciplines is to approximate a function given only the values of the function at various points in input variable space. A method is proposed for approximating a function of several to one variable. The model takes the form of weighted averaging of overlapping basis functions defined over intervals. The number of such basis functions and their parameters (widths and centers) are automatically determined using given training data and a learning algorithm. The proposed algorithm can be seen as placing a nonuniform multidimensional grid in the input domain with overlapping cells. The non-uniformity and overlap of the cells is achieved by a learning algorithm to optimize a given objective function. This approach is motivated by the fuzzy modeling approach and a learning algorithms used for clustering and classification in pattern recognition. The basics of why and how the approach works are given. Few examples of nonlinear regression and classification are modeled. The relationship between the proposed technique, radial basis neural networks, kernel regression, probabilistic neural networks, and fuzzy modeling is explained. Finally advantages and disadvantages are discussed.

  2. Burnout-depression overlap: a review.

    PubMed

    Bianchi, Renzo; Schonfeld, Irvin Sam; Laurent, Eric

    2015-03-01

    Whether burnout is a form of depression or a distinct phenomenon is an object of controversy. The aim of the present article was to provide an up-to-date review of the literature dedicated to the question of burnout-depression overlap. A systematic literature search was carried out in PubMed, PsycINFO, and IngentaConnect. A total of 92 studies were identified as informing the issue of burnout-depression overlap. The current state of the art suggests that the distinction between burnout and depression is conceptually fragile. It is notably unclear how the state of burnout (i.e., the end stage of the burnout process) is conceived to differ from clinical depression. Empirically, evidence for the distinctiveness of the burnout phenomenon has been inconsistent, with the most recent studies casting doubt on that distinctiveness. The absence of consensual diagnostic criteria for burnout and burnout research's insufficient consideration of the heterogeneity of depressive disorders constitute major obstacles to the resolution of the raised issue. In conclusion, the epistemic status of the seminal, field-dominating definition of burnout is questioned. It is suggested that systematic clinical observation should be given a central place in future research on burnout-depression overlap. PMID:25638755

  3. Turner's hypoplasia and non-vitality: a case report of sequelae in permanent tooth.

    PubMed

    Geetha Priya, P R; John, John B; Elango, Indumathi

    2010-10-01

    Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner's hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis. PMID:22114432

  4. Influence of slice overlap on positron emission tomography image quality

    NASA Astrophysics Data System (ADS)

    McKeown, Clare; Gillen, Gerry; Dempsey, Mary Frances; Findlay, Caroline

    2016-02-01

    PET scans use overlapping acquisition beds to correct for reduced sensitivity at bed edges. The optimum overlap size for the General Electric (GE) Discovery 690 has not been established. This study assesses how image quality is affected by slice overlap. Efficacy of 23% overlaps (recommended by GE) and 49% overlaps (maximum possible overlap) were specifically assessed. European Association of Nuclear Medicine (EANM) guidelines for calculating minimum injected activities based on overlap size were also reviewed. A uniform flood phantom was used to assess noise (coefficient of variation, (COV)) and voxel accuracy (activity concentrations, Bq ml-1). A NEMA (National Electrical Manufacturers Association) body phantom with hot/cold spheres in a background activity was used to assess contrast recovery coefficients (CRCs) and signal to noise ratios (SNR). Different overlap sizes and sphere-to-background ratios were assessed. COVs for 49% and 23% overlaps were 9% and 13% respectively. This increased noise was difficult to visualise on the 23% overlap images. Mean voxel activity concentrations were not affected by overlap size. No clinically significant differences in CRCs were observed. However, visibility and SNR of small, low contrast spheres (⩽13 mm diameter, 2:1 sphere to background ratio) may be affected by overlap size in low count studies if they are located in the overlap area. There was minimal detectable influence on image quality in terms of noise, mean activity concentrations or mean CRCs when comparing 23% overlap with 49% overlap. Detectability of small, low contrast lesions may be affected in low count studies—however, this is a worst-case scenario. The marginal benefits of increasing overlap from 23% to 49% are likely to be offset by increased patient scan times. A 23% overlap is therefore appropriate for clinical use. An amendment to EANM guidelines for calculating injected activities is also proposed which better reflects the effect overlap size has

  5. Autosomal Trisomies and Partial Trisomy Syndromes

    PubMed Central

    Zaleski, W. A.

    1963-01-01

    The establishing of 46 chromosomes as the normal complement in man and the report of the sex chromatin bodies in buccal smears were followed by reports of trisomies and other abnormal patterns of the X and Y chromosomes in Klinefelter's and Turner's syndromes. Abnormal autosomal complements were described in mongolism, in the E-trisomy syndrome, the D-trisomy syndrome, in the Sturge-Weber syndrome, Waldenstrom's macroglobulinemia, benign congenital hypotonia, atrial septal defect and in the schizoid personality. Certain of these conditions, as well as the “oral-facial-digital” syndrome, were also found to exist as partial trisomies. The mechanism of a trisomy is one of non-disjunction and of partial trisomy translocation or insertion. Two cases of the partial trisomy in the E group are described; these are of especial interest because of the familial incidence, longer survival and male sex occurrence, features which are rarely seen in the full E-trisomy syndrome. ImagesFig. 4Fig. 5Fig. 6 PMID:20327419

  6. Restoration of incisal half with edge-up technique using ceramic partial crown in turner's hypoplasia: A case report.

    PubMed

    Hegde, Shreya; Kundabala, M

    2014-01-01

    This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement. PMID:24554869

  7. Cenozoic Motion of Greenland - Overlaps and Seaways

    NASA Astrophysics Data System (ADS)

    Lawver, L. A.; Norton, I. O.; Gahagan, L.

    2014-12-01

    Using the seafloor magnetic anomalies found in the Labrador Sea, North Atlantic and Eurasian basin to constrain the Cenozoic motion of Greenland, we have produced a new model for the tectonic evolution of the region. The aeromagnetic data collected by the Naval Research Lab [Brozena et al., 2003] in the Eurasian Basin and Canadian data from the Labrador Sea have been re-evaluated using new gridding algorithms and profile modeling using ModMag (Mendel et al., 2005). As a consequence, we have changed the published correlations, mostly prior to Chron C6 [19.05 Ma]. Presently published seafloor magnetic anomalies from the Labrador Sea assume that seafloor spreading ceased at C13 [33.06 Ma] but such an assumption produces an unacceptable overlap of Kronprins Christian Land of northeast Greenland with Svalbard, up to 140 km of overlap in some models. Our new model does not need any "unacceptable" overlap but does produce a slight amount of Eocene compression on Svalbard as is found on land there. Our model allows for an Early Eocene seaway between Ellesmere Island and northwest Greenland that may have connected the Labrador Sea through Baffin Bay and ultimately to the nascent Eurasian Basin, although its depth or even its essential existence is unknowable. During the Miocene, there is no room for a deepwater seaway in Fram Strait until at least the very end of the Early Miocene and perhaps not until Middle Miocene. Brozena, J. and six others, 2003. New aerogeophysical study of the Eurasia Basin and Lomonosov Ridge: Implications for basin development. Geology 31, 825-828. Mendel, V., M. Munschy and D.Sauter, 2005, MODMAG, a MATLAB program to model marine magnetic anomalies, Comp. Geosci., 31, .589-597

  8. Shaft drill bit with overlapping cutter arrangement

    SciTech Connect

    Cunningham, R.A.; Pessier, R.C.

    1981-02-03

    An earth boring drill bit for large diameter shafts has an improved cutter arrangement. The drill bit has a cutter support member with a number of cutters mounted to it for disintegrating the earth formation face. At least one inner cutter is mounted near the center for cutting the center area. A number of gage cutters are mounted at the periphery to cut the gage area of the shaft. A number of intermediate cutters are spaced between the inner and gage cutters. Each intermediate cutter overlaps onehalf of its width with an adjacent intermediate cutter.

  9. Technology initiatives with government/business overlap

    NASA Astrophysics Data System (ADS)

    Knapp, Robert H., Jr.

    2015-03-01

    Three important present-day technology development settings involve significant overlap between government and private sectors. The Advanced Research Project Agency for Energy (ARPA-E) supports a wide range of "high risk, high return" projects carried out in academic, non-profit or private business settings. The Materials Genome Initiative (MGI), based in the White House, aims at radical acceleration of the development process for advanced materials. California public utilities such as Pacific Gas & Electric operate under a structure of financial returns and political program mandates that make them arms of public policy as much as independent businesses.

  10. Malabsorption Syndromes

    MedlinePlus

    ... syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. This happens after surgery to ...

  11. The Proportion of Diploid 46,XX Cells Increases with Time in Women with Turner Syndrome—A 10-Year Follow-Up Study

    PubMed Central

    Denes, Anna-Maria; Landin-Wilhelmsen, Kerstin; Wettergren, Yvonne; Bryman, Inger

    2015-01-01

    In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26–66 years (mean±standard deviation: 42.0±11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7±13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS. PMID:25587646

  12. Rowell's syndrome induced by terbinafine.

    PubMed

    Murad, Aizuri; Shudell, Emma; Mulligan, Niall

    2015-01-01

    Terbinafine, a systemic antifungal commonly prescribed for onychomycosis (fungal infection involving the nails) has been reported to cause various cutaneous adverse effects. We describe an overlap syndrome between cutaneous lupus and erythaema multiforme induced by this medication with a review of other reported cases. PMID:26021384

  13. Overgrowth syndromes with vascular malformations.

    PubMed

    Hagen, Solveig L; Hook, Kristen P

    2016-03-01

    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. PMID:27607325

  14. Kindlin-1 and -2 Have Overlapping Functions in Epithelial Cells

    PubMed Central

    He, Yinghong; Esser, Philipp; Heinemann, Anja; Bruckner-Tuderman, Leena; Has, Cristina

    2011-01-01

    Kindlins are a novel family of intracellular adaptor proteins in integrin-containing focal adhesions. Kindlin-1 and -2 are expressed in the skin, but whether and how they cooperate in adult epithelial cells have remained elusive. We uncovered the overlapping roles of kindlin-1 and -2 in maintaining epithelial integrity and show that the phenotype of kindlin-1-deficient cells can be modulated by regulating kindlin-2 gene expression and vice versa. The experimental evidence is provided by use of human keratinocyte cell lines that express both kindlins, just kindlin-1 or kindlin-2, or none of them. Double deficiency of kindlin-1 and -2 had significant negative effects on focal adhesion formation and actin cytoskeleton organization, cell adhesion, survival, directional migration, and activation of β1 integrin, whereas deficiency of one kindlin only showed variable perturbation of these functions. Cell motility and formation of cell-cell contacts were particularly affected by lack of kindlin-2. These results predict that kindlin-1 and -2 can functionally compensate for each other, at least in part. The high physiologic and pathologic significance of the compensation was emphasized by the discovery of environmental regulation of kindlin-2 expression. UV-B irradiation induced loss of kindlin-2 in keratinocytes. This first example of environmental regulation of kindlin expression has implications for phenotype modulation in Kindler syndrome, a skin disorder caused by kindlin-1 deficiency. PMID:21356350

  15. Improvement of overlapping nuclear track densitometry.

    PubMed

    Ghergherehchi, M; Kim, S Y; Afarideh, H; Kim, Y S; Chai, J S

    2015-03-01

    Detection of tracks produced by α particles, protons or nuclear fission fragments in plastic detectors, viz., solid-state nuclear track detectors, constitutes a very important tool in various areas. It is not easy for humans to count CR-39 nuclear tracks manually, especially when the track density is very high. An automated computer program called KTTMS2, written in C++ and running with a user friendly interface, has been developed for recognition and parametric measurements of etched tracks in images captured from the surface of solid-state nuclear track detectors. Well-known edge detection methods were applied to estimate the precision and accuracy of nuclear track densitometry using the CR-39 detector. Among the various routine edge detection methods, the Canny method was chosen because it was the most accurate technique. Because accuracy becomes more important as the track density increases, this allows more overlapping tracks to be detected. KTTMS2 (the proposed system) has an efficiency of 95% and can identify the noise as a background track (5%). Experimental results showed that the error percentage was reduced from 7.63% to 3.23% for high-density tracks when the count was adjusted by the estimated overlapping tracks. PMID:25581623

  16. Serial FBG sensor network allowing overlapping spectra

    NASA Astrophysics Data System (ADS)

    Abbenseth, S.; Lochmann, S.; Ahrens, A.; Rehm, B.

    2016-05-01

    For structure or material monitoring low impact serial fiber Bragg grating (FBG) networks have attracted increasing research interest. Common sensor networks using wavelength division multiplexing (WDM) for FBG interrogation are limited in their efficiency by the spectral width of their light source, the FBG tuning range and the spectral guard bands. Overlapping spectra are strictly forbidden in this case. Applying time division multiplexing (TDM) or active resonator schemes may overcome these restrictions. However, they introduce other substantial disadvantages like signal roundtrip dependency or sophisticated control of active resonating structures. Code division multiplexing (CDM) as a means of FBG interrogation by simple autocorrelation of appropriate codes has been shown to be superior in this respect. However, it came at the cost of a second spectrometer introducing additional equalization efforts. We demonstrate a new serial FBG sensor network utilizing CDM signal processing for efficient sensor interrogation without the need of a second spectrometer and additional state of polarization (SOP) controlling components. It allows overlapping spectra even when all sensing FBGs are positioned at the same centre wavelength and it shows a high degree of insensitivity to SOP. Sequence inversed keyed (SIK) serial signal processing utilizing quasi-orthogonal balanced codes ensures simple and quick sensor interrogation with high signal-to-interference/noise ratio.

  17. [Wavelength calibration research on the automatic grating monochromator for orthogonal Czerny-Turner structure].

    PubMed

    Kou, Jie-ting; Bayanheshig; Tang, Yu-guo; Qi, Xiang-dong; Yu, Hong-zhu

    2012-04-01

    The wavelength calibration research on the automatic grating monochromator for orthogonal Czerny-Turner structure was investigated. Combined with the structure parameters and characteristic of this monochromator, the sinusoid that accords with the grating equation was proposed as the function of the wavelength calibration. Based on the principle of the least square method, the formula of the fitting residual error of the wavelength calibration was given. Using the Nelder-Mead simplex method, the undetermined coefficient of the fitting residual error was solved, which founded the precise formula between the wavelength and the grating turning angle. The accuracy of the method was verified through the experiment. The calibrated wavelength precision of the monochromator is less than 0.1 nm, which satisfies the application requirement. Applied in the wavelength calibration of the automatic grating monochromator with orthogonal Czerny-Turner structure, this method is simple to apply and easy for implementation. Using this method, the wavelength calibration can be realized quickly and real-timely, but it is only needed to modify the control program of the stepping motor slightly, which shows a better practicability. PMID:22715800

  18. Design of imaging spectrometer based on Czerny-Turner in FUV

    NASA Astrophysics Data System (ADS)

    Liu, Jianpeng; Tang, Yi; Wu, Yan; Zhang, Zhige; Ni, Guoqiang

    2010-11-01

    It is the astigmatism that leads the traditional imaging spectrometer based on Czerny-Turner to have low spatial resolution. And it is discovered that when the distance between concave mirror and grating, x, is equal to the twice of focal length, ?, of the mirror, SII = SIII = 0 and the aberration is the least as well as the astigmatism is eliminated greatly. Meanwhile the toroidal mirror is presented to correct the astigmatism, and as well the aberration caused by the large FOV is corrected by optimizing the surface tilt. Then both of the spatial and spectral resolutions are improved. Finally a Czerny-Turner imaging spectrometer working in FUV (120 nm { 180 nm) with 2.5° FOV is designed, and its focal length is 147.61 mm, its F number is 3.93. MTF of this imaging spectrometer is more than 0.39 at 20 lp/mm in the total wavelength band of FOV, which satisfied the requirements of imaging spectrometer working on satellite in FUV.

  19. Symptom burden and consulting behavior in patients with overlapping functional disorders in the US population

    PubMed Central

    Stelwagon, Margie; Shea, Elizabeth P; Miller, Steve

    2015-01-01

    Background Regulatory and treatment guidelines focus on individual conditions, yet clinicians often see patients with overlapping conditions. Objective This cross-sectional survey study assesses the impact of overlapping functional dyspepsia (FD), gastroesophageal reflux disease (GERD), irritable bowel syndrome with constipation (IBS-C), and chronic idiopathic constipation (CIC) on symptom burden and consulting behavior. Methods Survey participants met Rome III criteria for FD, IBS-C, and/or CIC, and/or reported GERD; participants answered questions about symptom frequency and bothersomeness, work and productivity, and consulting behavior. Results Of 2641 respondents, 1592 (60.3%) had one condition; 832 (31.5%) had two; and 217 (8.2%) had three; 57.3% of 1690 FD, 54.6% of 1337 GERD, 82.6% of 328 IBS-C, and 62.5% of 552 CIC respondents had condition overlap. Overall GI symptoms were very/extremely bothersome in 28.6% of single-condition respondents, 50.7% of two-condition, and 69.6% of three-condition respondents (p < 0.001, chi square). Symptom frequency and productivity losses both increased with condition overlap. Over 12 months, 43.7% of single-condition, 49.9% of two-condition, and 66.5% of three-condition respondents consulted a physician about GI symptoms (p < 0.001, chi square). Conclusion Functional GI disorders frequently overlap with each other and with GERD. Condition overlap is associated with greater symptom burden and increased physician consultations. PMID:27403308

  20. Isaac's Syndrome

    MedlinePlus

    ... syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of ... which include progressive muscle stiffness, continuously contracting ...

  1. Phonological and Orthographic Overlap Effects in Fast and Masked Priming

    PubMed Central

    Frisson, Steven; Bélanger, Nathalie N.; Rayner, Keith

    2014-01-01

    We investigated how orthographic and phonological information is activated during reading, using a fast priming task, and during single word recognition, using masked priming. Specifically, different types of overlap between prime and target were contrasted: high orthographic and high phonological overlap (track-crack), high orthographic and low phonological overlap (bear-gear), or low orthographic and high phonological overlap (fruit-chute). In addition, we examined whether (orthographic) beginning overlap (swoop-swoon) yielded the same priming pattern as end (rhyme) overlap (track-crack). Prime durations were 32 and 50ms in the fast priming version, and 50ms in the masked priming version, and mode of presentation (prime and target in lower case) was identical. The fast priming experiment showed facilitatory priming effects when both orthography and phonology overlapped, with no apparent differences between beginning and end overlap pairs. Facilitation was also found when prime and target only overlapped orthographically. In contrast, the masked priming experiment showed inhibition for both types of end overlap pairs (with and without phonological overlap), and no difference for begin overlap items. When prime and target only shared principally phonological information, facilitation was only found with a long prime duration in the fast priming experiment, while no differences were found in the masked priming version. These contrasting results suggest that fast priming and masked priming do not necessarily tap into the same type of processing. PMID:24365065

  2. Phonological and orthographic overlap effects in fast and masked priming.

    PubMed

    Frisson, Steven; Bélanger, Nathalie N; Rayner, Keith

    2014-01-01

    We investigated how orthographic and phonological information is activated during reading, using a fast priming task, and during single-word recognition, using masked priming. Specifically, different types of overlap between prime and target were contrasted: high orthographic and high phonological overlap (track-crack), high orthographic and low phonological overlap (bear-gear), or low orthographic and high phonological overlap (fruit-chute). In addition, we examined whether (orthographic) beginning overlap (swoop-swoon) yielded the same priming pattern as end (rhyme) overlap (track-crack). Prime durations were 32 and 50 ms in the fast priming version and 50 ms in the masked priming version, and mode of presentation (prime and target in lower case) was identical. The fast priming experiment showed facilitatory priming effects when both orthography and phonology overlapped, with no apparent differences between beginning and end overlap pairs. Facilitation was also found when prime and target only overlapped orthographically. In contrast, the masked priming experiment showed inhibition for both types of end overlap pairs (with and without phonological overlap) and no difference for begin overlap items. When prime and target only shared principally phonological information, facilitation was only found with a long prime duration in the fast priming experiment, while no differences were found in the masked priming version. These contrasting results suggest that fast priming and masked priming do not necessarily tap into the same type of processing. PMID:24365065

  3. 75 FR 16098 - Southern Turner Cimarron I, LLC; Supplemental Notice That Initial Market-Based Rate Filing...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-31

    ... From the Federal Register Online via the Government Publishing Office ] DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Southern Turner Cimarron I, LLC; Supplemental Notice That Initial Market-Based Rate Filing Includes Request for Blanket Section 204 Authorization March 24, 2010. This is a supplemental notice in the...

  4. The Role of Students in Data Use: Commentary on Coburn and Turner's "Research on Data Use: A Framework and Analysis"

    ERIC Educational Resources Information Center

    Hamilton, Laura S.

    2011-01-01

    Cynthia Coburn and Erica Turner have made an important contribution by developing a framework to synthesize the various strands of research and theory related to data use in schools. The framework illustrates the complexity of the pathways between the adoption of a data-use intervention and the attainment of desired outcomes, and it clarifies the…

  5. Rethinking "Turner v. Keefe": The Parallel Mobilization of African-American and White Teachers in Tampa, Florida, 1936-1946

    ERIC Educational Resources Information Center

    Shircliffe, Barbara J.

    2012-01-01

    In 1941, members of the local unit of the Florida State Teachers Association (FSTA) met in Tampa to plan a lawsuit against Hillsborough County's school board for paying African-American teachers less than white teachers. Hilda Turner, who taught history and economics at Tampa's historically black high school, agreed to serve as plaintiff; she was…

  6. A Review of Journal Coverage Overlap with an Extension to the Definition of Overlap.

    ERIC Educational Resources Information Center

    Gluck, Myke

    1990-01-01

    Examines the definition of journal coverage overlap in abstracting and indexing services during the past 30 years of research and expands the definition using a matrix of dissimilarity values. Multidimensional scaling analysis is applied to graphically demonstrate this definition and a naive secondary tool selection algorithm is presented. (43…

  7. Grid adaptation using chimera composite overlapping meshes

    NASA Technical Reports Server (NTRS)

    Kao, Kai-Hsiung; Liou, Meng-Sing; Chow, Chuen-Yen

    1994-01-01

    The objective of this paper is to perform grid adaptation using composite overlapping meshes in regions of large gradient to accurately capture the salient features during computation. The chimera grid scheme, a multiple overset mesh technique, is used in combination with a Navier-Stokes solver. The numerical solution is first converged to a steady state based on an initial coarse mesh. Solution-adaptive enhancement is then performed by using a secondary fine grid system which oversets on top of the base grid in the high-gradient region, but without requiring the mesh boundaries to join in any special way. Communications through boundary interfaces between those separated grids are carried out using trilinear interpolation. Application to the Euler equations for shock reflections and to shock wave/boundary layer interaction problem are tested. With the present method, the salient features are well-resolved.

  8. Grid adaptation using Chimera composite overlapping meshes

    NASA Technical Reports Server (NTRS)

    Kao, Kai-Hsiung; Liou, Meng-Sing; Chow, Chuen-Yen

    1993-01-01

    The objective of this paper is to perform grid adaptation using composite over-lapping meshes in regions of large gradient to capture the salient features accurately during computation. The Chimera grid scheme, a multiple overset mesh technique, is used in combination with a Navier-Stokes solver. The numerical solution is first converged to a steady state based on an initial coarse mesh. Solution-adaptive enhancement is then performed by using a secondary fine grid system which oversets on top of the base grid in the high-gradient region, but without requiring the mesh boundaries to join in any special way. Communications through boundary interfaces between those separated grids are carried out using tri-linear interpolation. Applications to the Euler equations for shock reflections and to a shock wave/boundary layer interaction problem are tested. With the present method, the salient features are well resolved.

  9. Parkinsonism and frontotemporal dementia: the clinical overlap.

    PubMed

    Espay, Alberto J; Litvan, Irene

    2011-11-01

    Frontotemporal dementia is commonly associated with parkinsonism in several sporadic (i.e., progressive supranuclear palsy, corticobasal degeneration) and familial neurodegenerative disorders (i.e., frontotemporal dementia associated with parkinsonism and MAPT or progranulin mutations in chromosome 17). The clinical diagnosis of these disorders may be challenging in view of overlapping clinical features, particularly in speech, language, and behavior. The motor and cognitive phenotypes can be viewed within a spectrum of clinical, pathologic, and genetic disorders with no discrete clinicopathologic correlations but rather lying within a dementia-parkinsonism continuum. Neuroimaging and cerebrospinal fluid analysis can be helpful, but the poor specificity of clinical and imaging features has enormously challenged the development of biological markers that could differentiate these disorders premortem. This gap is critical to bridge in order to allow testing of novel biological therapies that may slow the progression of these proteinopathies. PMID:21892619

  10. Competitive STDP Learning of Overlapping Spatial Patterns.

    PubMed

    Krunglevicius, Dalius

    2015-08-01

    Spike-timing-dependent plasticity (STDP) is a set of Hebbian learning rules firmly based on biological evidence. It has been demonstrated that one of the STDP learning rules is suited for learning spatiotemporal patterns. When multiple neurons are organized in a simple competitive spiking neural network, this network is capable of learning multiple distinct patterns. If patterns overlap significantly (i.e., patterns are mutually inclusive), however, competition would not preclude trained neuron's responding to a new pattern and adjusting synaptic weights accordingly. This letter presents a simple neural network that combines vertical inhibition and Euclidean distance-dependent synaptic strength factor. This approach helps to solve the problem of pattern size-dependent parameter optimality and significantly reduces the probability of a neuron's forgetting an already learned pattern. For demonstration purposes, the network was trained for the first ten letters of the Braille alphabet. PMID:26079753

  11. Recombining overlapping BACs into single large BACs.

    PubMed

    Kotzamanis, George; Kotsinas, Athanassios

    2015-01-01

    BAC clones containing the entire genomic region of a gene including the long-range regulatory elements are very useful for gene functional analysis. However, large genes often span more than the insert of a BAC clone, and single BACs covering the entire region of interest are not available. Here, we describe a general system for linking two or more overlapping BACs into a single clone. Two rounds of homologous recombination are used. In the first, the BAC inserts are subcloned into the pBACLink vectors. In the second, the two BACs are combined together. Multiple BACs in a contig can be combined by alternating use of the pBACLInk vectors, resulting in several BAC clones containing as much of the genomic region of a gene as required. Such BACs can then be used in gene expression studies and/or gene therapy applications. PMID:25239744

  12. Overlapped Fourier coding for optical aberration removal

    PubMed Central

    Horstmeyer, Roarke; Ou, Xiaoze; Chung, Jaebum; Zheng, Guoan; Yang, Changhuei

    2014-01-01

    We present an imaging procedure that simultaneously optimizes a camera’s resolution and retrieves a sample’s phase over a sequence of snapshots. The technique, termed overlapped Fourier coding (OFC), first digitally pans a small aperture across a camera’s pupil plane with a spatial light modulator. At each aperture location, a unique image is acquired. The OFC algorithm then fuses these low-resolution images into a full-resolution estimate of the complex optical field incident upon the detector. Simultaneously, the algorithm utilizes redundancies within the acquired dataset to computationally estimate and remove unknown optical aberrations and system misalignments via simulated annealing. The result is an imaging system that can computationally overcome its optical imperfections to offer enhanced resolution, at the expense of taking multiple snapshots over time. PMID:25321982

  13. Grid adaption using Chimera composite overlapping meshes

    NASA Technical Reports Server (NTRS)

    Kao, Kai-Hsiung; Liou, Meng-Sing; Chow, Chuen-Yen

    1993-01-01

    The objective of this paper is to perform grid adaptation using composite over-lapping meshes in regions of large gradient to capture the salient features accurately during computation. The Chimera grid scheme, a multiple overset mesh technique, is used in combination with a Navier-Stokes solver. The numerical solution is first converged to a steady state based on an initial coarse mesh. Solution-adaptive enhancement is then performed by using a secondary fine grid system which oversets on top of the base grid in the high-gradient region, but without requiring the mesh boundaries to join in any special way. Communications through boundary interfaces between those separated grids are carried out using tri-linear interpolation. Applications to the Euler equations for shock reflections and to a shock wave/boundary layer interaction problem are tested. With the present method, the salient features are well resolved.

  14. A Case of Reticulate Acropigmentation of Kitamura: Dowling Degos Disease Overlap with Unusual Clinical Manifestations

    PubMed Central

    Vasudevan, Biju; Verma, Rajesh; Badwal, Sonia; Pragasam, Vijendran; Moorchung, Nikhil; Badad, Ambresh

    2014-01-01

    Reticulate hyperpigmentary disorders are a group of rare genetic pigmentary abnormalities which includes reticulate acropigmentation of Kitamura (RAPK), Dowling-Degos disease (DD), reticulate acropigmentation of Dohi (RAPD), Haber's syndrome, and Galli-Galli disease. A 25-year-old male presented with asymptomatic dark-colored lesions on his hands and feet with light-colored skin lesions involving the trunk since three years. Dermatological examination revealed hyperpigmented macules in a reticulate pattern involving the dorsa of the hands and feet, front and sides of the neck, axillae, periorbital region, and groin. Multiple pits were present over both palms, with breaks in dermatoglyphics. He also had multiple nonacne facial scars predominantly on the nose and malar areas. The patient had overlapping features of RAPK and DDD. In addition, he also had hypopigmented macules and acneiform facial scars. Such an overlap of features of reticulate pigmentation has not been previously reported in the literature. PMID:24891663

  15. Geometrical constraint experimental determination of Raman lidar overlap profile.

    PubMed

    Li, Jian; Li, Chengcai; Zhao, Yiming; Li, Jing; Chu, Yiqi

    2016-06-20

    A simple experimental method to determine the overlap profile of Raman lidar is presented in this paper. Based on Mie and Raman backscattering signals and a geometrically constrained condition, the overlap profile of a Raman lidar system can be determined. Our approach simultaneously retrieves the lidar ratio of aerosols, which is one of the most important sources of uncertainty in the overlap profile determination. The results indicate that the overlap factor is significantly influenced by the lidar ratio in experimental methods. A representative case study indicates that the correction of the overlap profile obtained by this method is practical and feasible. PMID:27409119

  16. Diverticular Disease and IBS: Overlapping or Misunderstanding?

    PubMed

    Spiller, Robin

    2016-10-01

    Although over half of patients over 65 years old will have diverticulosis, only a minority experience symptoms. These are often similar to those of irritable bowel syndrome with pain and disordered bowel habit, but differ in having an onset in the sixth to seventh decade. The underlying mechanisms include visceral hypersensitivity which maybe postinflammatory, but may also be due to altered central pain processing. Somatization is a useful clue to a predominantly central pathology, while its absence points to local causes including altered enteric nerves and mucosal immune activation. Treatments should be tailored to the individual patient who shows either predominantly peripheral or central abnormalities. PMID:27622357

  17. Advanced astigmatism-corrected Czerny-Turner imaging spectrometer in spectral broadband

    NASA Astrophysics Data System (ADS)

    Cong, Hai-fang

    2014-12-01

    This paper reports an advanced Czerny-Turner optical structure which is used for the application in imaging spectrometers. To obtain the excellent imaging quality, a cylindrical lens with a wedge angle is used between the focusing mirror and the imaging plane to remove astigmatism in broadband. It makes the advanced optical system presents high resolution over the full bandwidth and decreases the cost. An example of the imaging spectrometer in the waveband of 260nm~520nm has been designed to prove our theory. It yields the excellent modulation transfer functions (MTF) of all fields of view which are more than 0.75 over the broadband under the required Nyquist frequency (20lp/mm).

  18. High performance Czerny-Turner imaging spectrometer with aberrations corrected by tilted lenses

    NASA Astrophysics Data System (ADS)

    Zhong, Xing; Zhang, Yuan; Jin, Guang

    2015-03-01

    The design of the high performance imaging spectrometer using low-cost plane grating is researched in this paper. In order to correct the aberrations well, under the guidance of the vector aberration theory, the modification of Czerny-Turner system with inserted tilt lenses is proposed. The novel design of a short-wave infrared imaging spectrometer working at between wavelengths of 1-2.5 μm is shown as an example, whose numerical aperture achieves 0.15 in image space. The aberrations are corrected well and the Modulation Transfer Function (MTF) performance is the same as the convex gratings systems. The smiles and keystones of the spectral image are acceptable. Advantages of the proposed design with a plane grating are obviously that the diffraction efficiency is high while the cost is very low.

  19. EVOG: a database for evolutionary analysis of overlapping genes.

    PubMed

    Kim, Dae-Soo; Cho, Chi-Young; Huh, Jae-Won; Kim, Heui-Soo; Cho, Hwan-Gue

    2009-01-01

    Overlapping genes are defined as a pair of genes whose transcripts are overlapped. Recently, many cases of overlapped genes have been investigated in various eukaryotic organisms; however, their origin and transcriptional control mechanism has not yet been clearly determined. In this study, we implemented evolutionary visualizer for overlapping genes (EVOG), a Web-based DB with a novel visualization interface, to investigate the evolutionary relationship between overlapping genes. Using this technique, we collected and analyzed all overlapping genes in human, chimpanzee, orangutan, marmoset, rhesus, cow, dog, mouse, rat, chicken, Xenopus, zebrafish and Drosophila. This integrated database provides a manually curated database that displays the evolutionary features of overlapping genes. The EVOG DB components included a number of overlapping genes (10074 in human, 10,009 in chimpanzee, 67,039 in orangutan, 51,001 in marmoset, 219 in rhesus, 3627 in cow, 209 in dog, 10,700 in mouse, 7987 in rat, 1439 in chicken, 597 in Xenopus, 2457 in zebrafish and 4115 in Drosophila). The EVOG database is very effective and easy to use for the analysis of the evolutionary process of overlapping genes when comparing different species. Therefore, EVOG could potentially be used as the main tool to investigate the evolution of the human genome in relation to disease by comparing the expression profiles of overlapping genes. EVOG is available at http://neobio.cs.pusan.ac.kr/evog/. PMID:18986995

  20. Enzymatic assembly of overlapping DNA fragments.

    PubMed

    Gibson, Daniel G

    2011-01-01

    Three methods for assembling multiple, overlapping DNA molecules are described. Each method shares the same basic approach: (i) an exonuclease removes nucleotides from the ends of double-stranded (ds) DNA molecules, exposing complementary single-stranded (ss) DNA overhangs that are specifically annealed; (ii) the ssDNA gaps of the joined molecules are filled in by DNA polymerase, and the nicks are covalently sealed by DNA ligase. The first method employs the 3'-exonuclease activity of T4 DNA polymerase (T4 pol), Taq DNA polymerase (Taq pol), and Taq DNA ligase (Taq lig) in a two-step thermocycled reaction. The second method uses 3'-exonuclease III (ExoIII), antibody-bound Taq pol, and Taq lig in a one-step thermocycled reaction. The third method employs 5'-T5 exonuclease, Phusion® DNA polymerase, and Taq lig in a one-step isothermal reaction and can be used to assemble both ssDNA and dsDNA. These assembly methods can be used to seamlessly construct synthetic and natural genes, genetic pathways, and entire genomes and could be very useful for molecular engineering tools. PMID:21601685

  1. Effects of overlapping strings in pp collisions

    DOE PAGESBeta

    Bierlich, Christian; Gustafson, Gösta; Lönnblad, Leif; Tarasov, Andrey

    2015-03-26

    In models for hadron collisions based on string hadronization, the strings are usually treated as independent, allowing no interaction between the confined colour fields. In studies of nucleus collisions it has been suggested that strings close in space can fuse to form "colour ropes." Such ropes are expected to give more strange particles and baryons, which also has been suggested as a signal for plasma formation. Overlapping strings can also be expected in pp collisions, where usually no phase transition is expected. In particular at the high LHC energies the expected density of strings is quite high. To investigate possiblemore » effects of rope formation, we present a model in which strings are allowed to combine into higher multiplets, giving rise to increased production of baryons and strangeness, or recombine into singlet structures and vanish. Also a crude model for strings recombining into junction structures is considered, again giving rise to increased baryon production. The models are implemented in the DIPSY MC event generator, using PYTHIA8 for hadronization, and comparison to pp minimum bias data, reveals improvement in the description of identified particle spectra.« less

  2. Base drive and overlap protection circuit

    DOEpatents

    Gritter, David J.

    1983-01-01

    An inverter (34) which provides power to an A. C. machine (28) is controlled by a circuit (36) employing PWM control strategy whereby A. C. power is supplied to the machine at a preselectable frequency and preselectable voltage. This is accomplished by the technique of waveform notching in which the shapes of the notches are varied to determine the average energy content of the overall waveform. Through this arrangement, the operational efficiency of the A. C. machine is optimized. The control circuit includes a microcomputer and memory element which receive various parametric inputs and calculate optimized machine control data signals therefrom. The control data is asynchronously loaded into the inverter through an intermediate buffer (38). A base drive and overlap protection circuit is included to insure that both transistors of a complimentary pair are not conducting at the same time. In its preferred embodiment, the present invention is incorporated within an electric vehicle (10) employing a 144 VDC battery pack (32) and a three-phase induction motor (18).

  3. Effects of overlapping strings in pp collisions

    SciTech Connect

    Bierlich, Christian; Gustafson, Gösta; Lönnblad, Leif; Tarasov, Andrey

    2015-03-26

    In models for hadron collisions based on string hadronization, the strings are usually treated as independent, allowing no interaction between the confined colour fields. In studies of nucleus collisions it has been suggested that strings close in space can fuse to form "colour ropes." Such ropes are expected to give more strange particles and baryons, which also has been suggested as a signal for plasma formation. Overlapping strings can also be expected in pp collisions, where usually no phase transition is expected. In particular at the high LHC energies the expected density of strings is quite high. To investigate possible effects of rope formation, we present a model in which strings are allowed to combine into higher multiplets, giving rise to increased production of baryons and strangeness, or recombine into singlet structures and vanish. Also a crude model for strings recombining into junction structures is considered, again giving rise to increased baryon production. The models are implemented in the DIPSY MC event generator, using PYTHIA8 for hadronization, and comparison to pp minimum bias data, reveals improvement in the description of identified particle spectra.

  4. Parkinsonian Syndromes

    PubMed Central

    Williams, David R.; Litvan, Irene

    2013-01-01

    Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

  5. A Lower Bound for Quantifying Overlap Effects: An Empirical Approach

    SciTech Connect

    Bassetti, Federico

    1997-12-31

    Among the many features that are implemented in today`s microprocessors there are some that have the capability of reducing the execution time via overlapping of different operations. Overlapping of instructions with other instructions, and overlapping of computation with memory activities are the main way in which execution time is reduced. In this paper we will introduce a notion of overlap and its definition, and a few different ways to capture its effects. We will characterize some of the DOE Accelerated Strategic Computing Initiative (ASCI) benchmarks using the overlap and some other quantities related to it. Also, we will present a characterization of the overlap effects using a lower bound derived empirically from measured data. We will conclude by using the lower bound to estimate other components of the overall execution time.

  6. Solving Fluid Flow Problems on Moving and Adaptive Overlapping Grids

    SciTech Connect

    Henshaw, W

    2005-07-28

    Solution of fluid dynamics problems on overlapping grids will be discussed. An overlapping grid consists of a set of structured component grids that cover a domain and overlap where they meet. Overlapping grids provide an effective approach for developing efficient and accurate approximations for complex, possibly moving geometry. Topics to be addressed include the reactive Euler equations, the incompressible Navier-Stokes equations and elliptic equations solved with a multigrid algorithm. Recent developments coupling moving grids and adaptive mesh refinement and preliminary parallel results will also be presented.

  7. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary.

    PubMed

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  8. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary

    PubMed Central

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  9. Dravet Syndrome

    MedlinePlus

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  10. Williams syndrome

    MedlinePlus

    Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

  11. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  12. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  13. Cushing syndrome

    MedlinePlus

    ... Cushing disease Cushing syndrome due to adrenal tumor Diabetes Ectopic Cushing syndrome Exogenous Cushing syndrome Kidney stones Pituitary tumor Rheumatoid arthritis Tumor Update Date 10/28/2015 Updated by: ...

  14. A reexamination of the small overlap frontal crash.

    PubMed

    Scullion, Paul; Morgan, Richard M; Mohan, Pradeep; Kan, Cing-Dao; Shanks, Kurt; Jin, Wook; Tangirala, Ravi

    2010-01-01

    The objective of this study was to examine and rank the Small Overlap Frontal Crash as one of the eight-group taxonomy proposed by Ford. The Ford taxonomy classifies real-world frontal-impact crashes based on the National Automotive Sampling System (NASS). Frontally-impacted vehicles were identified for 1985 - 2008 model year passenger vehicles with Collision Deformation Classification (CDC) data from the 1995 - 2008 years of NASS. Small overlap frontal cases were identified where there was no engagement of the vehicle frame rails, and the direct damage was located entirely outside of the vehicle frame rails. The results are that full engagement and offset (offset category means the direct damage overlaps the vehicle frame rail, with the center of direct damage between the frame rails) were the most frequent crashes contributing 35% each. The frequency of the small overlap frontal was 6%. The risks of injury (AIS ≥ 2) for the full engagement, offset, and small overlap were 8%, 6%, and 3% respectively. For this study, the number of small overlap vehicles was 1,118 and the number of injured nearside occupants was 100. This study-following the Ford approach and reasonably identifying the location of the longitudinal rails based on CDC-suggests that the small overlap is at worst a moderately dangerous crash in the overall scheme of frontal crashes. The implications of this study are that the safety community should reexamine the significance of the small overlap frontal crash against an overall taxonomy of crashes. PMID:21050598

  15. An Exposition of Fischer's Model of Overlapping Contracts.

    ERIC Educational Resources Information Center

    Fields, T. Windsor; Hart, William R.

    1992-01-01

    Suggests how the classic model of overlapping contracts can be incorporated into the contract wage model of aggregate supply. Illustrates dynamics of macroeconomic adjustment following a shock to aggregate demand. Concludes that overlapping contracts do not prolong the adjustment process; rather, the longest remaining contract determines the time…

  16. Overlaps and Accumulation in the Use of Rehabilitation Services

    ERIC Educational Resources Information Center

    Pulkki, Jutta M.; Rissanen, Pekka; Raitanen, Jani A.; Viitanen, Elina A.

    2011-01-01

    The Finnish rehabilitation system is considered fragmented and multisectoral, and thus it may produce "multiclients" receiving inefficient and overlapping services. This paper addresses the overlaps and accumulation in the delivery of rehabilitation services in Finnish rehabilitation subsystems. Data were drawn from several administrative…

  17. Identifying Cluster Overlap with NORMIX Population Membership Probabilities.

    ERIC Educational Resources Information Center

    Price, Lydia J.

    1993-01-01

    The ability of the NORMIX algorithm to recover overlapping population structures was compared to the OVERCLUS procedure and another clustering procedure in a Monte Carlo study. NORMIX is found to be more accurate than other procedures in recovering overlapping population structure when appropriate implementation options are specified. (SLD)

  18. "Listenership" in Japanese: An Examination of Overlapping Listener Response

    ERIC Educational Resources Information Center

    Ikeda, Keiko

    2004-01-01

    This study focuses on a particular listening pattern in Japanese which occurs by overlapping with the current speaker's incrementing utterance. Applying the Conversational Analysis approach to conversational data, the study delineates how native speakers utilize overlapping listener responses to indicate their strong alignment, and why learners of…

  19. Shake for Sigma, Pray for Pi: Classroom Orbital Overlap Analogies

    ERIC Educational Resources Information Center

    Dicks, Andrew P.

    2011-01-01

    An introductory organic classroom demonstration is discussed where analogies are made between common societal hand contact and covalent bond formation. A handshake signifies creation of a [sigma] bond ("head-on" orbital overlap), whereas the action of praying illustrates "sideways" overlap and generation of a [pi] bond. The nature of orbital and…

  20. AREA OVERLAP METHOD FOR DETERMINING ADEQUATE CHROMATOGRAPHIC RESOLUTION

    EPA Science Inventory

    The Area Overlap method for evaluating analytical chromatograms is evaluated and compared with the Depth-of-the-Valley, IUPAC and Purnell criteria. The method is a resolution criterion based on the fraction of area contributed by an adjacent, overlapping peak. It accounts for bot...